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.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) | |
| 3 | g.38550917C>A | CA352141073 | SCN5A | c.5452G>T (p.Asp1818Tyr) c.5455G>T (p.Asp1819Tyr) c.5401G>T (p.Asp1801Tyr) c.5293G>T (p.Asp1765Tyr) c.5356G>T (p.Asp1786Tyr) c.5326G>T (p.Asp1776Tyr) c.5398G>T (p.Asp1800Tyr) | gnomAD v4 |
| 3 | g.38550917C= | CA1358556916 | SCN5A | c.5452G= (p.Asp1818=) c.5455G= (p.Asp1819=) c.5401G= (p.Asp1801=) c.5293G= (p.Asp1765=) c.5356G= (p.Asp1786=) c.5326G= (p.Asp1776=) c.5398G= (p.Asp1800=) | |
| 3 | g.38550917C>G | CA352141072 | SCN5A | c.5452G>C (p.Asp1818His) c.5455G>C (p.Asp1819His) c.5401G>C (p.Asp1801His) c.5293G>C (p.Asp1765His) c.5356G>C (p.Asp1786His) c.5326G>C (p.Asp1776His) c.5398G>C (p.Asp1800His) | |
| 3 | g.38550917C>T | CA019238 | SCN5A | c.5452G>A (p.Asp1818Asn) c.5455G>A (p.Asp1819Asn) c.5401G>A (p.Asp1801Asn) c.5293G>A (p.Asp1765Asn) c.5356G>A (p.Asp1786Asn) c.5326G>A (p.Asp1776Asn) c.5398G>A (p.Asp1800Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550918G>A | CA064428 | SCN5A | c.5451C>T (p.Ala1817=) c.5454C>T (p.Ala1818=) c.5400C>T (p.Ala1800=) c.5292C>T (p.Ala1764=) c.5355C>T (p.Ala1785=) c.5325C>T (p.Ala1775=) c.5397C>T (p.Ala1799=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38550918G>C | CA433331572 | SCN5A | c.5451C>G (p.Ala1817=) c.5454C>G (p.Ala1818=) c.5400C>G (p.Ala1800=) c.5292C>G (p.Ala1764=) c.5355C>G (p.Ala1785=) c.5325C>G (p.Ala1775=) c.5397C>G (p.Ala1799=) | |
| 3 | g.38550918G= | CA1358556922 | SCN5A | c.5451C= (p.Ala1817=) c.5454C= (p.Ala1818=) c.5400C= (p.Ala1800=) c.5292C= (p.Ala1764=) c.5355C= (p.Ala1785=) c.5325C= (p.Ala1775=) c.5397C= (p.Ala1799=) | |
| 3 | g.38550918G>T | CA433331573 | SCN5A | c.5451C>A (p.Ala1817=) c.5454C>A (p.Ala1818=) c.5400C>A (p.Ala1800=) c.5292C>A (p.Ala1764=) c.5355C>A (p.Ala1785=) c.5325C>A (p.Ala1775=) c.5397C>A (p.Ala1799=) | |
| 3 | g.38550919G>A | CA352141074 | SCN5A | c.5450C>T (p.Ala1817Val) c.5453C>T (p.Ala1818Val) c.5399C>T (p.Ala1800Val) c.5291C>T (p.Ala1764Val) c.5354C>T (p.Ala1785Val) c.5324C>T (p.Ala1775Val) c.5396C>T (p.Ala1799Val) | ClinVar |
| 3 | g.38550919G>C | CA352141075 | SCN5A | c.5450C>G (p.Ala1817Gly) c.5453C>G (p.Ala1818Gly) c.5399C>G (p.Ala1800Gly) c.5291C>G (p.Ala1764Gly) c.5354C>G (p.Ala1785Gly) c.5324C>G (p.Ala1775Gly) c.5396C>G (p.Ala1799Gly) | |
| 3 | g.38550919G>T | CA352141076 | SCN5A | c.5450C>A (p.Ala1817Asp) c.5453C>A (p.Ala1818Asp) c.5399C>A (p.Ala1800Asp) c.5291C>A (p.Ala1764Asp) c.5354C>A (p.Ala1785Asp) c.5324C>A (p.Ala1775Asp) c.5396C>A (p.Ala1799Asp) | |
| 3 | g.38550920C>A | CA352141077 | SCN5A | c.5449G>T (p.Ala1817Ser) c.5452G>T (p.Ala1818Ser) c.5398G>T (p.Ala1800Ser) c.5290G>T (p.Ala1764Ser) c.5353G>T (p.Ala1785Ser) c.5323G>T (p.Ala1775Ser) c.5395G>T (p.Ala1799Ser) | |
| 3 | g.38550920C= | CA1358556927 | SCN5A | c.5449G= (p.Ala1817=) c.5452G= (p.Ala1818=) c.5398G= (p.Ala1800=) c.5290G= (p.Ala1764=) c.5353G= (p.Ala1785=) c.5323G= (p.Ala1775=) c.5395G= (p.Ala1799=) | |
| 3 | g.38550920C>G | CA352141078 | SCN5A | c.5449G>C (p.Ala1817Pro) c.5452G>C (p.Ala1818Pro) c.5398G>C (p.Ala1800Pro) c.5290G>C (p.Ala1764Pro) c.5353G>C (p.Ala1785Pro) c.5323G>C (p.Ala1775Pro) c.5395G>C (p.Ala1799Pro) | |
| 3 | g.38550920C>T | CA352141079 | SCN5A | c.5449G>A (p.Ala1817Thr) c.5452G>A (p.Ala1818Thr) c.5398G>A (p.Ala1800Thr) c.5290G>A (p.Ala1764Thr) c.5353G>A (p.Ala1785Thr) c.5323G>A (p.Ala1775Thr) c.5395G>A (p.Ala1799Thr) | dbSNP |
| 3 | g.38550921A>C | CA352141080 | SCN5A | c.5448T>G (p.Phe1816Leu) c.5451T>G (p.Phe1817Leu) c.5397T>G (p.Phe1799Leu) c.5289T>G (p.Phe1763Leu) c.5352T>G (p.Phe1784Leu) c.5322T>G (p.Phe1774Leu) c.5394T>G (p.Phe1798Leu) | |
| 3 | g.38550921A>G | CA433331581 | SCN5A | c.5448T>C (p.Phe1816=) c.5451T>C (p.Phe1817=) c.5397T>C (p.Phe1799=) c.5289T>C (p.Phe1763=) c.5352T>C (p.Phe1784=) c.5322T>C (p.Phe1774=) c.5394T>C (p.Phe1798=) | |
| 3 | g.38550921A>T | CA352141081 | SCN5A | c.5448T>A (p.Phe1816Leu) c.5451T>A (p.Phe1817Leu) c.5397T>A (p.Phe1799Leu) c.5289T>A (p.Phe1763Leu) c.5352T>A (p.Phe1784Leu) c.5322T>A (p.Phe1774Leu) c.5394T>A (p.Phe1798Leu) | |
| 3 | g.38550922A>C | CA352141082 | SCN5A | c.5447T>G (p.Phe1816Cys) c.5450T>G (p.Phe1817Cys) c.5396T>G (p.Phe1799Cys) c.5288T>G (p.Phe1763Cys) c.5351T>G (p.Phe1784Cys) c.5321T>G (p.Phe1774Cys) c.5393T>G (p.Phe1798Cys) | |
| 3 | g.38550922A>G | CA352141083 | SCN5A | c.5447T>C (p.Phe1816Ser) c.5450T>C (p.Phe1817Ser) c.5396T>C (p.Phe1799Ser) c.5288T>C (p.Phe1763Ser) c.5351T>C (p.Phe1784Ser) c.5321T>C (p.Phe1774Ser) c.5393T>C (p.Phe1798Ser) | |
| 3 | g.38550922A>T | CA352141084 | SCN5A | c.5447T>A (p.Phe1816Tyr) c.5450T>A (p.Phe1817Tyr) c.5396T>A (p.Phe1799Tyr) c.5288T>A (p.Phe1763Tyr) c.5351T>A (p.Phe1784Tyr) c.5321T>A (p.Phe1774Tyr) c.5393T>A (p.Phe1798Tyr) | |
| 3 | g.38550923A>C | CA352141087 | SCN5A | c.5446T>G (p.Phe1816Val) c.5449T>G (p.Phe1817Val) c.5395T>G (p.Phe1799Val) c.5287T>G (p.Phe1763Val) c.5350T>G (p.Phe1784Val) c.5320T>G (p.Phe1774Val) c.5392T>G (p.Phe1798Val) | |
| 3 | g.38550923A>G | CA352141085 | SCN5A | c.5446T>C (p.Phe1816Leu) c.5449T>C (p.Phe1817Leu) c.5395T>C (p.Phe1799Leu) c.5287T>C (p.Phe1763Leu) c.5350T>C (p.Phe1784Leu) c.5320T>C (p.Phe1774Leu) c.5392T>C (p.Phe1798Leu) | |
| 3 | g.38550923A>T | CA352141086 | SCN5A | c.5446T>A (p.Phe1816Ile) c.5449T>A (p.Phe1817Ile) c.5395T>A (p.Phe1799Ile) c.5287T>A (p.Phe1763Ile) c.5350T>A (p.Phe1784Ile) c.5320T>A (p.Phe1774Ile) c.5392T>A (p.Phe1798Ile) | |
| 3 | g.38550925_38550928del | CA2573136262 | SCN5A | c.5443_5446del (p.Asp1815LeufsTer17) c.5446_5449del (p.Asp1816LeufsTer17) c.5392_5395del (p.Asp1798LeufsTer17) c.5284_5287del (p.Asp1762LeufsTer17) c.5347_5350del (p.Asp1783LeufsTer17) c.5317_5320del (p.Asp1773LeufsTer17) c.5389_5392del (p.Asp1797LeufsTer17) | ClinVar dbSNP |
| 3 | g.38550924G>A | CA433331583 | SCN5A | c.5445C>T (p.Asp1815=) c.5448C>T (p.Asp1816=) c.5394C>T (p.Asp1798=) c.5286C>T (p.Asp1762=) c.5349C>T (p.Asp1783=) c.5319C>T (p.Asp1773=) c.5391C>T (p.Asp1797=) | gnomAD v4 |
| 3 | g.38550924G>C | CA064422 | SCN5A | c.5445C>G (p.Asp1815Glu) c.5448C>G (p.Asp1816Glu) c.5394C>G (p.Asp1798Glu) c.5286C>G (p.Asp1762Glu) c.5349C>G (p.Asp1783Glu) c.5319C>G (p.Asp1773Glu) c.5391C>G (p.Asp1797Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550924G= | CA1358556932 | SCN5A | c.5445C= (p.Asp1815=) c.5448C= (p.Asp1816=) c.5394C= (p.Asp1798=) c.5286C= (p.Asp1762=) c.5349C= (p.Asp1783=) c.5319C= (p.Asp1773=) c.5391C= (p.Asp1797=) | |
| 3 | g.38550924G>T | CA352141088 | SCN5A | c.5445C>A (p.Asp1815Glu) c.5448C>A (p.Asp1816Glu) c.5394C>A (p.Asp1798Glu) c.5286C>A (p.Asp1762Glu) c.5349C>A (p.Asp1783Glu) c.5319C>A (p.Asp1773Glu) c.5391C>A (p.Asp1797Glu) | |
| 3 | g.38550925T>A | CA352141089 | SCN5A | c.5444A>T (p.Asp1815Val) c.5447A>T (p.Asp1816Val) c.5393A>T (p.Asp1798Val) c.5285A>T (p.Asp1762Val) c.5348A>T (p.Asp1783Val) c.5318A>T (p.Asp1773Val) c.5390A>T (p.Asp1797Val) | |
| 3 | g.38550925T>C | CA352141090 | SCN5A | c.5444A>G (p.Asp1815Gly) c.5447A>G (p.Asp1816Gly) c.5393A>G (p.Asp1798Gly) c.5285A>G (p.Asp1762Gly) c.5348A>G (p.Asp1783Gly) c.5318A>G (p.Asp1773Gly) c.5390A>G (p.Asp1797Gly) | |
| 3 | g.38550925T>G | CA352141091 | SCN5A | c.5444A>C (p.Asp1815Ala) c.5447A>C (p.Asp1816Ala) c.5393A>C (p.Asp1798Ala) c.5285A>C (p.Asp1762Ala) c.5348A>C (p.Asp1783Ala) c.5318A>C (p.Asp1773Ala) c.5390A>C (p.Asp1797Ala) | |
| 3 | g.38550925_38550929delinsTCAGA | CA1358556933 | SCN5A | c.5440_5444delinsTCTGA (p.Ser1814=) c.5443_5447delinsTCTGA (p.Ser1815=) c.5389_5393delinsTCTGA (p.Ser1797=) c.5281_5285delinsTCTGA (p.Ser1761=) c.5344_5348delinsTCTGA (p.Ser1782=) c.5314_5318delinsTCTGA (p.Ser1772=) c.5386_5390delinsTCTGA (p.Ser1796=) | |
| 3 | g.38550926C>A | CA352141092 | SCN5A | c.5443G>T (p.Asp1815Tyr) c.5446G>T (p.Asp1816Tyr) c.5392G>T (p.Asp1798Tyr) c.5284G>T (p.Asp1762Tyr) c.5347G>T (p.Asp1783Tyr) c.5317G>T (p.Asp1773Tyr) c.5389G>T (p.Asp1797Tyr) | |
| 3 | g.38550926C= | CA1358556940 | SCN5A | c.5443G= (p.Asp1815=) c.5446G= (p.Asp1816=) c.5392G= (p.Asp1798=) c.5284G= (p.Asp1762=) c.5347G= (p.Asp1783=) c.5317G= (p.Asp1773=) c.5389G= (p.Asp1797=) | |
| 3 | g.38550926C>G | CA352141093 | SCN5A | c.5443G>C (p.Asp1815His) c.5446G>C (p.Asp1816His) c.5392G>C (p.Asp1798His) c.5284G>C (p.Asp1762His) c.5347G>C (p.Asp1783His) c.5317G>C (p.Asp1773His) c.5389G>C (p.Asp1797His) | |
| 3 | g.38550926C>T | CA352141094 | SCN5A | c.5443G>A (p.Asp1815Asn) c.5446G>A (p.Asp1816Asn) c.5392G>A (p.Asp1798Asn) c.5284G>A (p.Asp1762Asn) c.5347G>A (p.Asp1783Asn) c.5317G>A (p.Asp1773Asn) c.5389G>A (p.Asp1797Asn) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550929_38550932del | CA1139657961 | SCN5A | c.5440_5443del (p.Ser1814ThrfsTer18) c.5443_5446del (p.Ser1815ThrfsTer18) c.5389_5392del (p.Ser1797ThrfsTer18) c.5281_5284del (p.Ser1761ThrfsTer18) c.5344_5347del (p.Ser1782ThrfsTer18) c.5314_5317del (p.Ser1772ThrfsTer18) c.5386_5389del (p.Ser1796ThrfsTer18) | ClinVar dbSNP |
| 3 | g.38550927A= | CA1358556943 | SCN5A | c.5442T= (p.Ser1814=) c.5445T= (p.Ser1815=) c.5391T= (p.Ser1797=) c.5283T= (p.Ser1761=) c.5346T= (p.Ser1782=) c.5316T= (p.Ser1772=) c.5388T= (p.Ser1796=) | |
| 3 | g.38550927A>C | CA433331592 | SCN5A | c.5442T>G (p.Ser1814=) c.5445T>G (p.Ser1815=) c.5391T>G (p.Ser1797=) c.5283T>G (p.Ser1761=) c.5346T>G (p.Ser1782=) c.5316T>G (p.Ser1772=) c.5388T>G (p.Ser1796=) | |
| 3 | g.38550927A>G | CA064413 | SCN5A | c.5442T>C (p.Ser1814=) c.5445T>C (p.Ser1815=) c.5391T>C (p.Ser1797=) c.5283T>C (p.Ser1761=) c.5346T>C (p.Ser1782=) c.5316T>C (p.Ser1772=) c.5388T>C (p.Ser1796=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550927A>T | CA433331593 | SCN5A | c.5442T>A (p.Ser1814=) c.5445T>A (p.Ser1815=) c.5391T>A (p.Ser1797=) c.5283T>A (p.Ser1761=) c.5346T>A (p.Ser1782=) c.5316T>A (p.Ser1772=) c.5388T>A (p.Ser1796=) | |
| 3 | g.38550927dup | CA2586965765 | SCN5A | c.5442dup (p.Asp1815Ter) c.5445dup (p.Asp1816Ter) c.5391dup (p.Asp1798Ter) c.5283dup (p.Asp1762Ter) c.5346dup (p.Asp1783Ter) c.5316dup (p.Asp1773Ter) c.5388dup (p.Asp1797Ter) | |
| 3 | g.38550928G>A | CA352141095 | SCN5A | c.5441C>T (p.Ser1814Phe) c.5444C>T (p.Ser1815Phe) c.5390C>T (p.Ser1797Phe) c.5282C>T (p.Ser1761Phe) c.5345C>T (p.Ser1782Phe) c.5315C>T (p.Ser1772Phe) c.5387C>T (p.Ser1796Phe) | |
| 3 | g.38550928G>C | CA352141096 | SCN5A | c.5441C>G (p.Ser1814Cys) c.5444C>G (p.Ser1815Cys) c.5390C>G (p.Ser1797Cys) c.5282C>G (p.Ser1761Cys) c.5345C>G (p.Ser1782Cys) c.5315C>G (p.Ser1772Cys) c.5387C>G (p.Ser1796Cys) | |
| 3 | g.38550928G>T | CA352141097 | SCN5A | c.5441C>A (p.Ser1814Tyr) c.5444C>A (p.Ser1815Tyr) c.5390C>A (p.Ser1797Tyr) c.5282C>A (p.Ser1761Tyr) c.5345C>A (p.Ser1782Tyr) c.5315C>A (p.Ser1772Tyr) c.5387C>A (p.Ser1796Tyr) | COSMIC |
| 3 | g.38550929A>C | CA352141099 | SCN5A | c.5440T>G (p.Ser1814Ala) c.5443T>G (p.Ser1815Ala) c.5389T>G (p.Ser1797Ala) c.5281T>G (p.Ser1761Ala) c.5344T>G (p.Ser1782Ala) c.5314T>G (p.Ser1772Ala) c.5386T>G (p.Ser1796Ala) | |
| 3 | g.38550929A>G | CA352141100 | SCN5A | c.5440T>C (p.Ser1814Pro) c.5443T>C (p.Ser1815Pro) c.5389T>C (p.Ser1797Pro) c.5281T>C (p.Ser1761Pro) c.5344T>C (p.Ser1782Pro) c.5314T>C (p.Ser1772Pro) c.5386T>C (p.Ser1796Pro) | |
| 3 | g.38550929A>T | CA352141098 | SCN5A | c.5440T>A (p.Ser1814Thr) c.5443T>A (p.Ser1815Thr) c.5389T>A (p.Ser1797Thr) c.5281T>A (p.Ser1761Thr) c.5344T>A (p.Ser1782Thr) c.5314T>A (p.Ser1772Thr) c.5386T>A (p.Ser1796Thr) | ClinVar |
| 3 | g.38550930C>A | CA433331605 | SCN5A | c.5439G>T (p.Leu1813=) c.5442G>T (p.Leu1814=) c.5388G>T (p.Leu1796=) c.5280G>T (p.Leu1760=) c.5343G>T (p.Leu1781=) c.5313G>T (p.Leu1771=) c.5385G>T (p.Leu1795=) | |
| 3 | g.38550930C>G | CA433331606 | SCN5A | c.5439G>C (p.Leu1813=) c.5442G>C (p.Leu1814=) c.5388G>C (p.Leu1796=) c.5280G>C (p.Leu1760=) c.5343G>C (p.Leu1781=) c.5313G>C (p.Leu1771=) c.5385G>C (p.Leu1795=) | |
| 3 | g.38550930C>T | CA433331607 | SCN5A | c.5439G>A (p.Leu1813=) c.5442G>A (p.Leu1814=) c.5388G>A (p.Leu1796=) c.5280G>A (p.Leu1760=) c.5343G>A (p.Leu1781=) c.5313G>A (p.Leu1771=) c.5385G>A (p.Leu1795=) | |
| 3 | g.38550931A>C | CA352141103 | SCN5A | c.5438T>G (p.Leu1813Arg) c.5441T>G (p.Leu1814Arg) c.5387T>G (p.Leu1796Arg) c.5279T>G (p.Leu1760Arg) c.5342T>G (p.Leu1781Arg) c.5312T>G (p.Leu1771Arg) c.5384T>G (p.Leu1795Arg) | |
| 3 | g.38550931A>G | CA352141101 | SCN5A | c.5438T>C (p.Leu1813Pro) c.5441T>C (p.Leu1814Pro) c.5387T>C (p.Leu1796Pro) c.5279T>C (p.Leu1760Pro) c.5342T>C (p.Leu1781Pro) c.5312T>C (p.Leu1771Pro) c.5384T>C (p.Leu1795Pro) | |
| 3 | g.38550931A>T | CA352141102 | SCN5A | c.5438T>A (p.Leu1813Gln) c.5441T>A (p.Leu1814Gln) c.5387T>A (p.Leu1796Gln) c.5279T>A (p.Leu1760Gln) c.5342T>A (p.Leu1781Gln) c.5312T>A (p.Leu1771Gln) c.5384T>A (p.Leu1795Gln) | |
| 3 | g.38550932G>A | CA433331608 | SCN5A | c.5437C>T (p.Leu1813=) c.5440C>T (p.Leu1814=) c.5386C>T (p.Leu1796=) c.5278C>T (p.Leu1760=) c.5341C>T (p.Leu1781=) c.5311C>T (p.Leu1771=) c.5383C>T (p.Leu1795=) | gnomAD v4 |
| 3 | g.38550932G>C | CA352141104 | SCN5A | c.5437C>G (p.Leu1813Val) c.5440C>G (p.Leu1814Val) c.5386C>G (p.Leu1796Val) c.5278C>G (p.Leu1760Val) c.5341C>G (p.Leu1781Val) c.5311C>G (p.Leu1771Val) c.5383C>G (p.Leu1795Val) | gnomAD v4 |
| 3 | g.38550932G>T | CA352141105 | SCN5A | c.5437C>A (p.Leu1813Met) c.5440C>A (p.Leu1814Met) c.5386C>A (p.Leu1796Met) c.5278C>A (p.Leu1760Met) c.5341C>A (p.Leu1781Met) c.5311C>A (p.Leu1771Met) c.5383C>A (p.Leu1795Met) | |
| 3 | g.38550933G>A | CA433331614 | SCN5A | c.5436C>T (p.Val1812=) c.5439C>T (p.Val1813=) c.5385C>T (p.Val1795=) c.5277C>T (p.Val1759=) c.5340C>T (p.Val1780=) c.5310C>T (p.Val1770=) c.5382C>T (p.Val1794=) | dbSNP |
| 3 | g.38550933G>C | CA433331616 | SCN5A | c.5436C>G (p.Val1812=) c.5439C>G (p.Val1813=) c.5385C>G (p.Val1795=) c.5277C>G (p.Val1759=) c.5340C>G (p.Val1780=) c.5310C>G (p.Val1770=) c.5382C>G (p.Val1794=) | ClinVar dbSNP |
| 3 | g.38550933G>T | CA433331615 | SCN5A | c.5436C>A (p.Val1812=) c.5439C>A (p.Val1813=) c.5385C>A (p.Val1795=) c.5277C>A (p.Val1759=) c.5340C>A (p.Val1780=) c.5310C>A (p.Val1770=) c.5382C>A (p.Val1794=) | |
| 3 | g.38550934A>C | CA352141106 | SCN5A | c.5435T>G (p.Val1812Gly) c.5438T>G (p.Val1813Gly) c.5384T>G (p.Val1795Gly) c.5276T>G (p.Val1759Gly) c.5339T>G (p.Val1780Gly) c.5309T>G (p.Val1770Gly) c.5381T>G (p.Val1794Gly) | |
| 3 | g.38550934A>G | CA352141107 | SCN5A | c.5435T>C (p.Val1812Ala) c.5438T>C (p.Val1813Ala) c.5384T>C (p.Val1795Ala) c.5276T>C (p.Val1759Ala) c.5339T>C (p.Val1780Ala) c.5309T>C (p.Val1770Ala) c.5381T>C (p.Val1794Ala) | |
| 3 | g.38550934A>T | CA352141108 | SCN5A | c.5435T>A (p.Val1812Asp) c.5438T>A (p.Val1813Asp) c.5384T>A (p.Val1795Asp) c.5276T>A (p.Val1759Asp) c.5339T>A (p.Val1780Asp) c.5309T>A (p.Val1770Asp) c.5381T>A (p.Val1794Asp) | |
| 3 | g.38550935C>A | CA352141109 | SCN5A | c.5434G>T (p.Val1812Phe) c.5437G>T (p.Val1813Phe) c.5383G>T (p.Val1795Phe) c.5275G>T (p.Val1759Phe) c.5338G>T (p.Val1780Phe) c.5308G>T (p.Val1770Phe) c.5380G>T (p.Val1794Phe) | |
| 3 | g.38550935C>G | CA352141110 | SCN5A | c.5434G>C (p.Val1812Leu) c.5437G>C (p.Val1813Leu) c.5383G>C (p.Val1795Leu) c.5275G>C (p.Val1759Leu) c.5338G>C (p.Val1780Leu) c.5308G>C (p.Val1770Leu) c.5380G>C (p.Val1794Leu) | |
| 3 | g.38550935C>T | CA352141111 | SCN5A | c.5434G>A (p.Val1812Ile) c.5437G>A (p.Val1813Ile) c.5383G>A (p.Val1795Ile) c.5275G>A (p.Val1759Ile) c.5338G>A (p.Val1780Ile) c.5308G>A (p.Val1770Ile) c.5380G>A (p.Val1794Ile) | |
| 3 | g.38550936C>A | CA433331621 | SCN5A | c.5433G>T (p.Ser1811=) c.5436G>T (p.Ser1812=) c.5382G>T (p.Ser1794=) c.5274G>T (p.Ser1758=) c.5337G>T (p.Ser1779=) c.5307G>T (p.Ser1769=) c.5379G>T (p.Ser1793=) | |
| 3 | g.38550936C= | CA1358556948 | SCN5A | c.5433G= (p.Ser1811=) c.5436G= (p.Ser1812=) c.5382G= (p.Ser1794=) c.5274G= (p.Ser1758=) c.5337G= (p.Ser1779=) c.5307G= (p.Ser1769=) c.5379G= (p.Ser1793=) | |
| 3 | g.38550936C>G | CA433331623 | SCN5A | c.5433G>C (p.Ser1811=) c.5436G>C (p.Ser1812=) c.5382G>C (p.Ser1794=) c.5274G>C (p.Ser1758=) c.5337G>C (p.Ser1779=) c.5307G>C (p.Ser1769=) c.5379G>C (p.Ser1793=) | |
| 3 | g.38550936C>T | CA019225 | SCN5A | c.5433G>A (p.Ser1811=) c.5436G>A (p.Ser1812=) c.5382G>A (p.Ser1794=) c.5274G>A (p.Ser1758=) c.5337G>A (p.Ser1779=) c.5307G>A (p.Ser1769=) c.5379G>A (p.Ser1793=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550937G>A | CA019218 | SCN5A | c.5432C>T (p.Ser1811Leu) c.5435C>T (p.Ser1812Leu) c.5381C>T (p.Ser1794Leu) c.5273C>T (p.Ser1758Leu) c.5336C>T (p.Ser1779Leu) c.5306C>T (p.Ser1769Leu) c.5378C>T (p.Ser1793Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550937G>C | CA352141113 | SCN5A | c.5432C>G (p.Ser1811Trp) c.5435C>G (p.Ser1812Trp) c.5381C>G (p.Ser1794Trp) c.5273C>G (p.Ser1758Trp) c.5336C>G (p.Ser1779Trp) c.5306C>G (p.Ser1769Trp) c.5378C>G (p.Ser1793Trp) | |
| 3 | g.38550937G= | CA1358556956 | SCN5A | c.5432C= (p.Ser1811=) c.5435C= (p.Ser1812=) c.5381C= (p.Ser1794=) c.5273C= (p.Ser1758=) c.5336C= (p.Ser1779=) c.5306C= (p.Ser1769=) c.5378C= (p.Ser1793=) | |
| 3 | g.38550937G>T | CA352141112 | SCN5A | c.5432C>A (p.Ser1811Ter) c.5435C>A (p.Ser1812Ter) c.5381C>A (p.Ser1794Ter) c.5273C>A (p.Ser1758Ter) c.5336C>A (p.Ser1779Ter) c.5306C>A (p.Ser1769Ter) c.5378C>A (p.Ser1793Ter) | dbSNP gnomAD v4 |
| 3 | g.38550938A>C | CA352141114 | SCN5A | c.5431T>G (p.Ser1811Ala) c.5434T>G (p.Ser1812Ala) c.5380T>G (p.Ser1794Ala) c.5272T>G (p.Ser1758Ala) c.5335T>G (p.Ser1779Ala) c.5305T>G (p.Ser1769Ala) c.5377T>G (p.Ser1793Ala) | |
| 3 | g.38550938A>G | CA352141115 | SCN5A | c.5431T>C (p.Ser1811Pro) c.5434T>C (p.Ser1812Pro) c.5380T>C (p.Ser1794Pro) c.5272T>C (p.Ser1758Pro) c.5335T>C (p.Ser1779Pro) c.5305T>C (p.Ser1769Pro) c.5377T>C (p.Ser1793Pro) | |
| 3 | g.38550938A>T | CA352141116 | SCN5A | c.5431T>A (p.Ser1811Thr) c.5434T>A (p.Ser1812Thr) c.5380T>A (p.Ser1794Thr) c.5272T>A (p.Ser1758Thr) c.5335T>A (p.Ser1779Thr) c.5305T>A (p.Ser1769Thr) c.5377T>A (p.Ser1793Thr) | |
| 3 | g.38550939A>C | CA352141117 | SCN5A | c.5430T>G (p.Tyr1810Ter) c.5433T>G (p.Tyr1811Ter) c.5379T>G (p.Tyr1793Ter) c.5271T>G (p.Tyr1757Ter) c.5334T>G (p.Tyr1778Ter) c.5304T>G (p.Tyr1768Ter) c.5376T>G (p.Tyr1792Ter) | |
| 3 | g.38550939A>G | CA433331632 | SCN5A | c.5430T>C (p.Tyr1810=) c.5433T>C (p.Tyr1811=) c.5379T>C (p.Tyr1793=) c.5271T>C (p.Tyr1757=) c.5334T>C (p.Tyr1778=) c.5304T>C (p.Tyr1768=) c.5376T>C (p.Tyr1792=) | |
| 3 | g.38550939A>T | CA352141118 | SCN5A | c.5430T>A (p.Tyr1810Ter) c.5433T>A (p.Tyr1811Ter) c.5379T>A (p.Tyr1793Ter) c.5271T>A (p.Tyr1757Ter) c.5334T>A (p.Tyr1778Ter) c.5304T>A (p.Tyr1768Ter) c.5376T>A (p.Tyr1792Ter) | |
| 3 | g.38550940T>A | CA352141119 | SCN5A | c.5429A>T (p.Tyr1810Phe) c.5432A>T (p.Tyr1811Phe) c.5378A>T (p.Tyr1793Phe) c.5270A>T (p.Tyr1757Phe) c.5333A>T (p.Tyr1778Phe) c.5303A>T (p.Tyr1768Phe) c.5375A>T (p.Tyr1792Phe) | |
| 3 | g.38550940T>C | CA352141120 | SCN5A | c.5429A>G (p.Tyr1810Cys) c.5432A>G (p.Tyr1811Cys) c.5378A>G (p.Tyr1793Cys) c.5270A>G (p.Tyr1757Cys) c.5333A>G (p.Tyr1778Cys) c.5303A>G (p.Tyr1768Cys) c.5375A>G (p.Tyr1792Cys) | |
| 3 | g.38550940T>G | CA352141121 | SCN5A | c.5429A>C (p.Tyr1810Ser) c.5432A>C (p.Tyr1811Ser) c.5378A>C (p.Tyr1793Ser) c.5270A>C (p.Tyr1757Ser) c.5333A>C (p.Tyr1778Ser) c.5303A>C (p.Tyr1768Ser) c.5375A>C (p.Tyr1792Ser) | |
| 3 | g.38550941A>C | CA352141122 | SCN5A | c.5428T>G (p.Tyr1810Asp) c.5431T>G (p.Tyr1811Asp) c.5377T>G (p.Tyr1793Asp) c.5269T>G (p.Tyr1757Asp) c.5332T>G (p.Tyr1778Asp) c.5302T>G (p.Tyr1768Asp) c.5374T>G (p.Tyr1792Asp) | |
| 3 | g.38550941A>G | CA352141123 | SCN5A | c.5428T>C (p.Tyr1810His) c.5431T>C (p.Tyr1811His) c.5377T>C (p.Tyr1793His) c.5269T>C (p.Tyr1757His) c.5332T>C (p.Tyr1778His) c.5302T>C (p.Tyr1768His) c.5374T>C (p.Tyr1792His) | gnomAD v4 |
| 3 | g.38550941A>T | CA352141124 | SCN5A | c.5428T>A (p.Tyr1810Asn) c.5431T>A (p.Tyr1811Asn) c.5377T>A (p.Tyr1793Asn) c.5269T>A (p.Tyr1757Asn) c.5332T>A (p.Tyr1778Asn) c.5302T>A (p.Tyr1768Asn) c.5374T>A (p.Tyr1792Asn) | |
| 3 | g.38550942C>A | CA352141125 | SCN5A | c.5427G>T (p.Glu1809Asp) c.5430G>T (p.Glu1810Asp) c.5376G>T (p.Glu1792Asp) c.5268G>T (p.Glu1756Asp) c.5331G>T (p.Glu1777Asp) c.5301G>T (p.Glu1767Asp) c.5373G>T (p.Glu1791Asp) | |
| 3 | g.38550942C>G | CA352141126 | SCN5A | c.5427G>C (p.Glu1809Asp) c.5430G>C (p.Glu1810Asp) c.5376G>C (p.Glu1792Asp) c.5268G>C (p.Glu1756Asp) c.5331G>C (p.Glu1777Asp) c.5301G>C (p.Glu1767Asp) c.5373G>C (p.Glu1791Asp) | |
| 3 | g.38550942C>T | CA433331638 | SCN5A | c.5427G>A (p.Glu1809=) c.5430G>A (p.Glu1810=) c.5376G>A (p.Glu1792=) c.5268G>A (p.Glu1756=) c.5331G>A (p.Glu1777=) c.5301G>A (p.Glu1767=) c.5373G>A (p.Glu1791=) | |
| 3 | g.38550943T>A | CA352141128 | SCN5A | c.5426A>T (p.Glu1809Val) c.5429A>T (p.Glu1810Val) c.5375A>T (p.Glu1792Val) c.5267A>T (p.Glu1756Val) c.5330A>T (p.Glu1777Val) c.5300A>T (p.Glu1767Val) c.5372A>T (p.Glu1791Val) | ClinVar |
| 3 | g.38550943T>C | CA352141129 | SCN5A | c.5426A>G (p.Glu1809Gly) c.5429A>G (p.Glu1810Gly) c.5375A>G (p.Glu1792Gly) c.5267A>G (p.Glu1756Gly) c.5330A>G (p.Glu1777Gly) c.5300A>G (p.Glu1767Gly) c.5372A>G (p.Glu1791Gly) | |
| 3 | g.38550943T>G | CA352141127 | SCN5A | c.5426A>C (p.Glu1809Ala) c.5429A>C (p.Glu1810Ala) c.5375A>C (p.Glu1792Ala) c.5267A>C (p.Glu1756Ala) c.5330A>C (p.Glu1777Ala) c.5300A>C (p.Glu1767Ala) c.5372A>C (p.Glu1791Ala) | |
| 3 | g.38550944C>A | CA16611373 | SCN5A | c.5425G>T (p.Glu1809Ter) c.5428G>T (p.Glu1810Ter) c.5374G>T (p.Glu1792Ter) c.5266G>T (p.Glu1756Ter) c.5329G>T (p.Glu1777Ter) c.5299G>T (p.Glu1767Ter) c.5371G>T (p.Glu1791Ter) | ClinVar dbSNP |
| 3 | g.38550944C= | CA1358556965 | SCN5A | c.5425G= (p.Glu1809=) c.5428G= (p.Glu1810=) c.5374G= (p.Glu1792=) c.5266G= (p.Glu1756=) c.5329G= (p.Glu1777=) c.5299G= (p.Glu1767=) c.5371G= (p.Glu1791=) | |
| 3 | g.38550944C>G | CA352141130 | SCN5A | c.5425G>C (p.Glu1809Gln) c.5428G>C (p.Glu1810Gln) c.5374G>C (p.Glu1792Gln) c.5266G>C (p.Glu1756Gln) c.5329G>C (p.Glu1777Gln) c.5299G>C (p.Glu1767Gln) c.5371G>C (p.Glu1791Gln) | |
| 3 | g.38550944C>T | CA352141131 | SCN5A | c.5425G>A (p.Glu1809Lys) c.5428G>A (p.Glu1810Lys) c.5374G>A (p.Glu1792Lys) c.5266G>A (p.Glu1756Lys) c.5329G>A (p.Glu1777Lys) c.5299G>A (p.Glu1767Lys) c.5371G>A (p.Glu1791Lys) | |
| 3 | g.38550944_38550948delinsCAATA | CA1358556963 | SCN5A | c.5421_5425delinsTATTG (p.Phe1807=) c.5424_5428delinsTATTG (p.Phe1808=) c.5370_5374delinsTATTG (p.Phe1790=) c.5262_5266delinsTATTG (p.Phe1754=) c.5325_5329delinsTATTG (p.Phe1775=) c.5295_5299delinsTATTG (p.Phe1765=) c.5367_5371delinsTATTG (p.Phe1789=) | |
| 3 | g.38550945A= | CA1358556971 | SCN5A | c.5424T= (p.Ile1808=) c.5427T= (p.Ile1809=) c.5373T= (p.Ile1791=) c.5265T= (p.Ile1755=) c.5328T= (p.Ile1776=) c.5298T= (p.Ile1766=) c.5370T= (p.Ile1790=) | |
| 3 | g.38550945A>C | CA064391 | SCN5A | c.5424T>G (p.Ile1808Met) c.5427T>G (p.Ile1809Met) c.5373T>G (p.Ile1791Met) c.5265T>G (p.Ile1755Met) c.5328T>G (p.Ile1776Met) c.5298T>G (p.Ile1766Met) c.5370T>G (p.Ile1790Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550945A>G | CA433331649 | SCN5A | c.5424T>C (p.Ile1808=) c.5427T>C (p.Ile1809=) c.5373T>C (p.Ile1791=) c.5265T>C (p.Ile1755=) c.5328T>C (p.Ile1776=) c.5298T>C (p.Ile1766=) c.5370T>C (p.Ile1790=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550945A>T | CA433331650 | SCN5A | c.5424T>A (p.Ile1808=) c.5427T>A (p.Ile1809=) c.5373T>A (p.Ile1791=) c.5265T>A (p.Ile1755=) c.5328T>A (p.Ile1776=) c.5298T>A (p.Ile1766=) c.5370T>A (p.Ile1790=) | |
| 3 | g.38550947_38550950del | CA1358556969 | SCN5A | c.5421_5424del (p.Phe1807LeufsTer25) c.5424_5427del (p.Phe1808LeufsTer25) c.5370_5373del (p.Phe1790LeufsTer25) c.5262_5265del (p.Phe1754LeufsTer25) c.5325_5328del (p.Phe1775LeufsTer25) c.5295_5298del (p.Phe1765LeufsTer25) c.5367_5370del (p.Phe1789LeufsTer25) | dbSNP |
| 3 | g.38550946A>C | CA352141132 | SCN5A | c.5423T>G (p.Ile1808Ser) c.5426T>G (p.Ile1809Ser) c.5372T>G (p.Ile1791Ser) c.5264T>G (p.Ile1755Ser) c.5327T>G (p.Ile1776Ser) c.5297T>G (p.Ile1766Ser) c.5369T>G (p.Ile1790Ser) | |
| 3 | g.38550946A>G | CA352141133 | SCN5A | c.5423T>C (p.Ile1808Thr) c.5426T>C (p.Ile1809Thr) c.5372T>C (p.Ile1791Thr) c.5264T>C (p.Ile1755Thr) c.5327T>C (p.Ile1776Thr) c.5297T>C (p.Ile1766Thr) c.5369T>C (p.Ile1790Thr) | |
| 3 | g.38550946A>T | CA352141134 | SCN5A | c.5423T>A (p.Ile1808Asn) c.5426T>A (p.Ile1809Asn) c.5372T>A (p.Ile1791Asn) c.5264T>A (p.Ile1755Asn) c.5327T>A (p.Ile1776Asn) c.5297T>A (p.Ile1766Asn) c.5369T>A (p.Ile1790Asn) | |
| 3 | g.38550947T>A | CA352141135 | SCN5A | c.5422A>T (p.Ile1808Phe) c.5425A>T (p.Ile1809Phe) c.5371A>T (p.Ile1791Phe) c.5263A>T (p.Ile1755Phe) c.5326A>T (p.Ile1776Phe) c.5296A>T (p.Ile1766Phe) c.5368A>T (p.Ile1790Phe) | |
| 3 | g.38550947T>C | CA352141136 | SCN5A | c.5422A>G (p.Ile1808Val) c.5425A>G (p.Ile1809Val) c.5371A>G (p.Ile1791Val) c.5263A>G (p.Ile1755Val) c.5326A>G (p.Ile1776Val) c.5296A>G (p.Ile1766Val) c.5368A>G (p.Ile1790Val) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550947T>G | CA352141137 | SCN5A | c.5422A>C (p.Ile1808Leu) c.5425A>C (p.Ile1809Leu) c.5371A>C (p.Ile1791Leu) c.5263A>C (p.Ile1755Leu) c.5326A>C (p.Ile1776Leu) c.5296A>C (p.Ile1766Leu) c.5368A>C (p.Ile1790Leu) | |
| 3 | g.38550947T= | CA1358556976 | SCN5A | c.5422A= (p.Ile1808=) c.5425A= (p.Ile1809=) c.5371A= (p.Ile1791=) c.5263A= (p.Ile1755=) c.5326A= (p.Ile1776=) c.5296A= (p.Ile1766=) c.5368A= (p.Ile1790=) | |
| 3 | g.38550948A= | CA1358556982 | SCN5A | c.5421T= (p.Phe1807=) c.5424T= (p.Phe1808=) c.5370T= (p.Phe1790=) c.5262T= (p.Phe1754=) c.5325T= (p.Phe1775=) c.5295T= (p.Phe1765=) c.5367T= (p.Phe1789=) | |
| 3 | g.38550948A>C | CA352141138 | SCN5A | c.5421T>G (p.Phe1807Leu) c.5424T>G (p.Phe1808Leu) c.5370T>G (p.Phe1790Leu) c.5262T>G (p.Phe1754Leu) c.5325T>G (p.Phe1775Leu) c.5295T>G (p.Phe1765Leu) c.5367T>G (p.Phe1789Leu) | |
| 3 | g.38550948A>G | CA433331662 | SCN5A | c.5421T>C (p.Phe1807=) c.5424T>C (p.Phe1808=) c.5370T>C (p.Phe1790=) c.5262T>C (p.Phe1754=) c.5325T>C (p.Phe1775=) c.5295T>C (p.Phe1765=) c.5367T>C (p.Phe1789=) | |
| 3 | g.38550948A>T | CA352141139 | SCN5A | c.5421T>A (p.Phe1807Leu) c.5424T>A (p.Phe1808Leu) c.5370T>A (p.Phe1790Leu) c.5262T>A (p.Phe1754Leu) c.5325T>A (p.Phe1775Leu) c.5295T>A (p.Phe1765Leu) c.5367T>A (p.Phe1789Leu) | ClinVar dbSNP |
| 3 | g.38550949A>C | CA352141141 | SCN5A | c.5420T>G (p.Phe1807Cys) c.5423T>G (p.Phe1808Cys) c.5369T>G (p.Phe1790Cys) c.5261T>G (p.Phe1754Cys) c.5324T>G (p.Phe1775Cys) c.5294T>G (p.Phe1765Cys) c.5366T>G (p.Phe1789Cys) | gnomAD v4 |
| 3 | g.38550949A>G | CA352141142 | SCN5A | c.5420T>C (p.Phe1807Ser) c.5423T>C (p.Phe1808Ser) c.5369T>C (p.Phe1790Ser) c.5261T>C (p.Phe1754Ser) c.5324T>C (p.Phe1775Ser) c.5294T>C (p.Phe1765Ser) c.5366T>C (p.Phe1789Ser) | |
| 3 | g.38550949A>T | CA352141140 | SCN5A | c.5420T>A (p.Phe1807Tyr) c.5423T>A (p.Phe1808Tyr) c.5369T>A (p.Phe1790Tyr) c.5261T>A (p.Phe1754Tyr) c.5324T>A (p.Phe1775Tyr) c.5294T>A (p.Phe1765Tyr) c.5366T>A (p.Phe1789Tyr) | |
| 3 | g.38550950A>C | CA352141143 | SCN5A | c.5419T>G (p.Phe1807Val) c.5422T>G (p.Phe1808Val) c.5368T>G (p.Phe1790Val) c.5260T>G (p.Phe1754Val) c.5323T>G (p.Phe1775Val) c.5293T>G (p.Phe1765Val) c.5365T>G (p.Phe1789Val) | |
| 3 | g.38550950A>G | CA352141144 | SCN5A | c.5419T>C (p.Phe1807Leu) c.5422T>C (p.Phe1808Leu) c.5368T>C (p.Phe1790Leu) c.5260T>C (p.Phe1754Leu) c.5323T>C (p.Phe1775Leu) c.5293T>C (p.Phe1765Leu) c.5365T>C (p.Phe1789Leu) | |
| 3 | g.38550950A>T | CA352141145 | SCN5A | c.5419T>A (p.Phe1807Ile) c.5422T>A (p.Phe1808Ile) c.5368T>A (p.Phe1790Ile) c.5260T>A (p.Phe1754Ile) c.5323T>A (p.Phe1775Ile) c.5293T>A (p.Phe1765Ile) c.5365T>A (p.Phe1789Ile) | |
| 3 | g.38550951C>A | CA352141146 | SCN5A | c.5418G>T (p.Gln1806His) c.5421G>T (p.Gln1807His) c.5367G>T (p.Gln1789His) c.5259G>T (p.Gln1753His) c.5322G>T (p.Gln1774His) c.5292G>T (p.Gln1764His) c.5364G>T (p.Gln1788His) | |
| 3 | g.38550951C>G | CA352141147 | SCN5A | c.5418G>C (p.Gln1806His) c.5421G>C (p.Gln1807His) c.5367G>C (p.Gln1789His) c.5259G>C (p.Gln1753His) c.5322G>C (p.Gln1774His) c.5292G>C (p.Gln1764His) c.5364G>C (p.Gln1788His) | |
| 3 | g.38550951C>T | CA433331676 | SCN5A | c.5418G>A (p.Gln1806=) c.5421G>A (p.Gln1807=) c.5367G>A (p.Gln1789=) c.5259G>A (p.Gln1753=) c.5322G>A (p.Gln1774=) c.5292G>A (p.Gln1764=) c.5364G>A (p.Gln1788=) | |
| 3 | g.38550951_38550955delinsCTGAG | CA1358556987 | SCN5A | c.5414_5418delinsCTCAG (p.Thr1805=) c.5417_5421delinsCTCAG (p.Thr1806=) c.5363_5367delinsCTCAG (p.Thr1788=) c.5255_5259delinsCTCAG (p.Thr1752=) c.5318_5322delinsCTCAG (p.Thr1773=) c.5288_5292delinsCTCAG (p.Thr1763=) c.5360_5364delinsCTCAG (p.Thr1787=) | |
| 3 | g.38550952T>A | CA352141150 | SCN5A | c.5417A>T (p.Gln1806Leu) c.5420A>T (p.Gln1807Leu) c.5366A>T (p.Gln1789Leu) c.5258A>T (p.Gln1753Leu) c.5321A>T (p.Gln1774Leu) c.5291A>T (p.Gln1764Leu) c.5363A>T (p.Gln1788Leu) | |
| 3 | g.38550952T>C | CA352141149 | SCN5A | c.5417A>G (p.Gln1806Arg) c.5420A>G (p.Gln1807Arg) c.5366A>G (p.Gln1789Arg) c.5258A>G (p.Gln1753Arg) c.5321A>G (p.Gln1774Arg) c.5291A>G (p.Gln1764Arg) c.5363A>G (p.Gln1788Arg) | |
| 3 | g.38550952T>G | CA352141148 | SCN5A | c.5417A>C (p.Gln1806Pro) c.5420A>C (p.Gln1807Pro) c.5366A>C (p.Gln1789Pro) c.5258A>C (p.Gln1753Pro) c.5321A>C (p.Gln1774Pro) c.5291A>C (p.Gln1764Pro) c.5363A>C (p.Gln1788Pro) | |
| 3 | g.38550952dup | CA2739279198 | SCN5A | c.5417dup (p.Phe1807ValfsTer3) c.5420dup (p.Phe1808ValfsTer3) c.5366dup (p.Phe1790ValfsTer3) c.5258dup (p.Phe1754ValfsTer3) c.5321dup (p.Phe1775ValfsTer3) c.5291dup (p.Phe1765ValfsTer3) c.5363dup (p.Phe1789ValfsTer3) | ClinVar |
| 3 | g.38550954_38550957del | CA16611455 | SCN5A | c.5414_5417del (p.Thr1805SerfsTer27) c.5417_5420del (p.Thr1806SerfsTer27) c.5363_5366del (p.Thr1788SerfsTer27) c.5255_5258del (p.Thr1752SerfsTer27) c.5318_5321del (p.Thr1773SerfsTer27) c.5288_5291del (p.Thr1763SerfsTer27) c.5360_5363del (p.Thr1787SerfsTer27) | ClinVar dbSNP |
| 3 | g.38550953G>A | CA352141151 | SCN5A | c.5416C>T (p.Gln1806Ter) c.5419C>T (p.Gln1807Ter) c.5365C>T (p.Gln1789Ter) c.5257C>T (p.Gln1753Ter) c.5320C>T (p.Gln1774Ter) c.5290C>T (p.Gln1764Ter) c.5362C>T (p.Gln1788Ter) | dbSNP |
| 3 | g.38550953G>C | CA352141152 | SCN5A | c.5416C>G (p.Gln1806Glu) c.5419C>G (p.Gln1807Glu) c.5365C>G (p.Gln1789Glu) c.5257C>G (p.Gln1753Glu) c.5320C>G (p.Gln1774Glu) c.5290C>G (p.Gln1764Glu) c.5362C>G (p.Gln1788Glu) | |
| 3 | g.38550953G= | CA1358556995 | SCN5A | c.5416C= (p.Gln1806=) c.5419C= (p.Gln1807=) c.5365C= (p.Gln1789=) c.5257C= (p.Gln1753=) c.5320C= (p.Gln1774=) c.5290C= (p.Gln1764=) c.5362C= (p.Gln1788=) | |
| 3 | g.38550953G>T | CA352141153 | SCN5A | c.5416C>A (p.Gln1806Lys) c.5419C>A (p.Gln1807Lys) c.5365C>A (p.Gln1789Lys) c.5257C>A (p.Gln1753Lys) c.5320C>A (p.Gln1774Lys) c.5290C>A (p.Gln1764Lys) c.5362C>A (p.Gln1788Lys) | |
| 3 | g.38550954A= | CA1358556997 | SCN5A | c.5415T= (p.Thr1805=) c.5418T= (p.Thr1806=) c.5364T= (p.Thr1788=) c.5256T= (p.Thr1752=) c.5319T= (p.Thr1773=) c.5289T= (p.Thr1763=) c.5361T= (p.Thr1787=) | |
| 3 | g.38550954A>C | CA433331678 | SCN5A | c.5415T>G (p.Thr1805=) c.5418T>G (p.Thr1806=) c.5364T>G (p.Thr1788=) c.5256T>G (p.Thr1752=) c.5319T>G (p.Thr1773=) c.5289T>G (p.Thr1763=) c.5361T>G (p.Thr1787=) | |
| 3 | g.38550954A>G | CA433331679 | SCN5A | c.5415T>C (p.Thr1805=) c.5418T>C (p.Thr1806=) c.5364T>C (p.Thr1788=) c.5256T>C (p.Thr1752=) c.5319T>C (p.Thr1773=) c.5289T>C (p.Thr1763=) c.5361T>C (p.Thr1787=) | |
| 3 | g.38550954A>T | CA064386 | SCN5A | c.5415T>A (p.Thr1805=) c.5418T>A (p.Thr1806=) c.5364T>A (p.Thr1788=) c.5256T>A (p.Thr1752=) c.5319T>A (p.Thr1773=) c.5289T>A (p.Thr1763=) c.5361T>A (p.Thr1787=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550955G>A | CA352141154 | SCN5A | c.5414C>T (p.Thr1805Ile) c.5417C>T (p.Thr1806Ile) c.5363C>T (p.Thr1788Ile) c.5255C>T (p.Thr1752Ile) c.5318C>T (p.Thr1773Ile) c.5288C>T (p.Thr1763Ile) c.5360C>T (p.Thr1787Ile) | ClinVar dbSNP |
| 3 | g.38550955G>C | CA352141155 | SCN5A | c.5414C>G (p.Thr1805Ser) c.5417C>G (p.Thr1806Ser) c.5363C>G (p.Thr1788Ser) c.5255C>G (p.Thr1752Ser) c.5318C>G (p.Thr1773Ser) c.5288C>G (p.Thr1763Ser) c.5360C>G (p.Thr1787Ser) | |
| 3 | g.38550955G= | CA1358557002 | SCN5A | c.5414C= (p.Thr1805=) c.5417C= (p.Thr1806=) c.5363C= (p.Thr1788=) c.5255C= (p.Thr1752=) c.5318C= (p.Thr1773=) c.5288C= (p.Thr1763=) c.5360C= (p.Thr1787=) | |
| 3 | g.38550955G>T | CA352141156 | SCN5A | c.5414C>A (p.Thr1805Asn) c.5417C>A (p.Thr1806Asn) c.5363C>A (p.Thr1788Asn) c.5255C>A (p.Thr1752Asn) c.5318C>A (p.Thr1773Asn) c.5288C>A (p.Thr1763Asn) c.5360C>A (p.Thr1787Asn) | |
| 3 | g.38550956T>A | CA352141158 | SCN5A | c.5413A>T (p.Thr1805Ser) c.5416A>T (p.Thr1806Ser) c.5362A>T (p.Thr1788Ser) c.5254A>T (p.Thr1752Ser) c.5317A>T (p.Thr1773Ser) c.5287A>T (p.Thr1763Ser) c.5359A>T (p.Thr1787Ser) | dbSNP |
| 3 | g.38550956T>C | CA352141159 | SCN5A | c.5413A>G (p.Thr1805Ala) c.5416A>G (p.Thr1806Ala) c.5362A>G (p.Thr1788Ala) c.5254A>G (p.Thr1752Ala) c.5317A>G (p.Thr1773Ala) c.5287A>G (p.Thr1763Ala) c.5359A>G (p.Thr1787Ala) | |
| 3 | g.38550956T>G | CA352141157 | SCN5A | c.5413A>C (p.Thr1805Pro) c.5416A>C (p.Thr1806Pro) c.5362A>C (p.Thr1788Pro) c.5254A>C (p.Thr1752Pro) c.5317A>C (p.Thr1773Pro) c.5287A>C (p.Thr1763Pro) c.5359A>C (p.Thr1787Pro) | |
| 3 | g.38550956T= | CA1358557005 | SCN5A | c.5413A= (p.Thr1805=) c.5416A= (p.Thr1806=) c.5362A= (p.Thr1788=) c.5254A= (p.Thr1752=) c.5317A= (p.Thr1773=) c.5287A= (p.Thr1763=) c.5359A= (p.Thr1787=) | |
| 3 | g.38550957G>A | CA433331688 | SCN5A | c.5412C>T (p.Ala1804=) c.5415C>T (p.Ala1805=) c.5361C>T (p.Ala1787=) c.5253C>T (p.Ala1751=) c.5316C>T (p.Ala1772=) c.5286C>T (p.Ala1762=) c.5358C>T (p.Ala1786=) | |
| 3 | g.38550957G>C | CA433331689 | SCN5A | c.5412C>G (p.Ala1804=) c.5415C>G (p.Ala1805=) c.5361C>G (p.Ala1787=) c.5253C>G (p.Ala1751=) c.5316C>G (p.Ala1772=) c.5286C>G (p.Ala1762=) c.5358C>G (p.Ala1786=) | |
| 3 | g.38550957G>T | CA433331690 | SCN5A | c.5412C>A (p.Ala1804=) c.5415C>A (p.Ala1805=) c.5361C>A (p.Ala1787=) c.5253C>A (p.Ala1751=) c.5316C>A (p.Ala1772=) c.5286C>A (p.Ala1762=) c.5358C>A (p.Ala1786=) | |
| 3 | g.38550958G>A | CA352141160 | SCN5A | c.5411C>T (p.Ala1804Val) c.5414C>T (p.Ala1805Val) c.5360C>T (p.Ala1787Val) c.5252C>T (p.Ala1751Val) c.5315C>T (p.Ala1772Val) c.5285C>T (p.Ala1762Val) c.5357C>T (p.Ala1786Val) | ClinVar dbSNP |
| 3 | g.38550958G>C | CA352141161 | SCN5A | c.5411C>G (p.Ala1804Gly) c.5414C>G (p.Ala1805Gly) c.5360C>G (p.Ala1787Gly) c.5252C>G (p.Ala1751Gly) c.5315C>G (p.Ala1772Gly) c.5285C>G (p.Ala1762Gly) c.5357C>G (p.Ala1786Gly) | |
| 3 | g.38550958G>T | CA352141162 | SCN5A | c.5411C>A (p.Ala1804Asp) c.5414C>A (p.Ala1805Asp) c.5360C>A (p.Ala1787Asp) c.5252C>A (p.Ala1751Asp) c.5315C>A (p.Ala1772Asp) c.5285C>A (p.Ala1762Asp) c.5357C>A (p.Ala1786Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38550959C>A | CA352141163 | SCN5A | c.5410G>T (p.Ala1804Ser) c.5413G>T (p.Ala1805Ser) c.5359G>T (p.Ala1787Ser) c.5251G>T (p.Ala1751Ser) c.5314G>T (p.Ala1772Ser) c.5284G>T (p.Ala1762Ser) c.5356G>T (p.Ala1786Ser) | |
| 3 | g.38550959C>G | CA352141164 | SCN5A | c.5410G>C (p.Ala1804Pro) c.5413G>C (p.Ala1805Pro) c.5359G>C (p.Ala1787Pro) c.5251G>C (p.Ala1751Pro) c.5314G>C (p.Ala1772Pro) c.5284G>C (p.Ala1762Pro) c.5356G>C (p.Ala1786Pro) | |
| 3 | g.38550959C>T | CA352141165 | SCN5A | c.5410G>A (p.Ala1804Thr) c.5413G>A (p.Ala1805Thr) c.5359G>A (p.Ala1787Thr) c.5251G>A (p.Ala1751Thr) c.5314G>A (p.Ala1772Thr) c.5284G>A (p.Ala1762Thr) c.5356G>A (p.Ala1786Thr) | |
| 3 | g.38550960C>A | CA352141167 | SCN5A | c.5409G>T (p.Glu1803Asp) c.5412G>T (p.Glu1804Asp) c.5358G>T (p.Glu1786Asp) c.5250G>T (p.Glu1750Asp) c.5313G>T (p.Glu1771Asp) c.5283G>T (p.Glu1761Asp) c.5355G>T (p.Glu1785Asp) | |
| 3 | g.38550960C>G | CA352141166 | SCN5A | c.5409G>C (p.Glu1803Asp) c.5412G>C (p.Glu1804Asp) c.5358G>C (p.Glu1786Asp) c.5250G>C (p.Glu1750Asp) c.5313G>C (p.Glu1771Asp) c.5283G>C (p.Glu1761Asp) c.5355G>C (p.Glu1785Asp) | |
| 3 | g.38550960C>T | CA433331691 | SCN5A | c.5409G>A (p.Glu1803=) c.5412G>A (p.Glu1804=) c.5358G>A (p.Glu1786=) c.5250G>A (p.Glu1750=) c.5313G>A (p.Glu1771=) c.5283G>A (p.Glu1761=) c.5355G>A (p.Glu1785=) |