| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |