| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 3 | g.38550961T>A | CA352141168 | SCN5A | c.5408A>T (p.Glu1803Val) c.5411A>T (p.Glu1804Val) c.5357A>T (p.Glu1786Val) c.5249A>T (p.Glu1750Val) c.5312A>T (p.Glu1771Val) c.5282A>T (p.Glu1761Val) c.5354A>T (p.Glu1785Val) | |
| 3 | g.38550961T>C | CA352141169 | SCN5A | c.5408A>G (p.Glu1803Gly) c.5411A>G (p.Glu1804Gly) c.5357A>G (p.Glu1786Gly) c.5249A>G (p.Glu1750Gly) c.5312A>G (p.Glu1771Gly) c.5282A>G (p.Glu1761Gly) c.5354A>G (p.Glu1785Gly) | |
| 3 | g.38550961T>G | CA352141170 | SCN5A | c.5408A>C (p.Glu1803Ala) c.5411A>C (p.Glu1804Ala) c.5357A>C (p.Glu1786Ala) c.5249A>C (p.Glu1750Ala) c.5312A>C (p.Glu1771Ala) c.5282A>C (p.Glu1761Ala) c.5354A>C (p.Glu1785Ala) | |
| 3 | g.38550962C>A | CA352141171 | SCN5A | c.5407G>T (p.Glu1803Ter) c.5410G>T (p.Glu1804Ter) c.5356G>T (p.Glu1786Ter) c.5248G>T (p.Glu1750Ter) c.5311G>T (p.Glu1771Ter) c.5281G>T (p.Glu1761Ter) c.5353G>T (p.Glu1785Ter) | dbSNP |
| 3 | g.38550962C= | CA1358557007 | SCN5A | c.5407G= (p.Glu1803=) c.5410G= (p.Glu1804=) c.5356G= (p.Glu1786=) c.5248G= (p.Glu1750=) c.5311G= (p.Glu1771=) c.5281G= (p.Glu1761=) c.5353G= (p.Glu1785=) | |
| 3 | g.38550962C>G | CA352141172 | SCN5A | c.5407G>C (p.Glu1803Gln) c.5410G>C (p.Glu1804Gln) c.5356G>C (p.Glu1786Gln) c.5248G>C (p.Glu1750Gln) c.5311G>C (p.Glu1771Gln) c.5281G>C (p.Glu1761Gln) c.5353G>C (p.Glu1785Gln) | ClinVar |
| 3 | g.38550962C>T | CA352141173 | SCN5A | c.5407G>A (p.Glu1803Lys) c.5410G>A (p.Glu1804Lys) c.5356G>A (p.Glu1786Lys) c.5248G>A (p.Glu1750Lys) c.5311G>A (p.Glu1771Lys) c.5281G>A (p.Glu1761Lys) c.5353G>A (p.Glu1785Lys) | |
| 3 | g.38550963T>A | CA433331704 | SCN5A | c.5406A>T (p.Pro1802=) c.5409A>T (p.Pro1803=) c.5355A>T (p.Pro1785=) c.5247A>T (p.Pro1749=) c.5310A>T (p.Pro1770=) c.5280A>T (p.Pro1760=) c.5352A>T (p.Pro1784=) | |
| 3 | g.38550963T>C | CA433331703 | SCN5A | c.5406A>G (p.Pro1802=) c.5409A>G (p.Pro1803=) c.5355A>G (p.Pro1785=) c.5247A>G (p.Pro1749=) c.5310A>G (p.Pro1770=) c.5280A>G (p.Pro1760=) c.5352A>G (p.Pro1784=) | |
| 3 | g.38550963T>G | CA433331702 | SCN5A | c.5406A>C (p.Pro1802=) c.5409A>C (p.Pro1803=) c.5355A>C (p.Pro1785=) c.5247A>C (p.Pro1749=) c.5310A>C (p.Pro1770=) c.5280A>C (p.Pro1760=) c.5352A>C (p.Pro1784=) | |
| 3 | g.38550964G>A | CA72937927 | SCN5A | c.5405C>T (p.Pro1802Leu) c.5408C>T (p.Pro1803Leu) c.5354C>T (p.Pro1785Leu) c.5246C>T (p.Pro1749Leu) c.5309C>T (p.Pro1770Leu) c.5279C>T (p.Pro1760Leu) c.5351C>T (p.Pro1784Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550964G>C | CA352141174 | SCN5A | c.5405C>G (p.Pro1802Arg) c.5408C>G (p.Pro1803Arg) c.5354C>G (p.Pro1785Arg) c.5246C>G (p.Pro1749Arg) c.5309C>G (p.Pro1770Arg) c.5279C>G (p.Pro1760Arg) c.5351C>G (p.Pro1784Arg) | |
| 3 | g.38550964G= | CA1358557009 | SCN5A | c.5405C= (p.Pro1802=) c.5408C= (p.Pro1803=) c.5354C= (p.Pro1785=) c.5246C= (p.Pro1749=) c.5309C= (p.Pro1770=) c.5279C= (p.Pro1760=) c.5351C= (p.Pro1784=) | |
| 3 | g.38550964G>T | CA352141175 | SCN5A | c.5405C>A (p.Pro1802Gln) c.5408C>A (p.Pro1803Gln) c.5354C>A (p.Pro1785Gln) c.5246C>A (p.Pro1749Gln) c.5309C>A (p.Pro1770Gln) c.5279C>A (p.Pro1760Gln) c.5351C>A (p.Pro1784Gln) | |
| 3 | g.38550965G>A | CA352141176 | SCN5A | c.5404C>T (p.Pro1802Ser) c.5407C>T (p.Pro1803Ser) c.5353C>T (p.Pro1785Ser) c.5245C>T (p.Pro1749Ser) c.5308C>T (p.Pro1770Ser) c.5278C>T (p.Pro1760Ser) c.5350C>T (p.Pro1784Ser) | dbSNP |
| 3 | g.38550965G>C | CA72937929 | SCN5A | c.5404C>G (p.Pro1802Ala) c.5407C>G (p.Pro1803Ala) c.5353C>G (p.Pro1785Ala) c.5245C>G (p.Pro1749Ala) c.5308C>G (p.Pro1770Ala) c.5278C>G (p.Pro1760Ala) c.5350C>G (p.Pro1784Ala) | dbSNP gnomAD v4 |
| 3 | g.38550965G= | CA1358557013 | SCN5A | c.5404C= (p.Pro1802=) c.5407C= (p.Pro1803=) c.5353C= (p.Pro1785=) c.5245C= (p.Pro1749=) c.5308C= (p.Pro1770=) c.5278C= (p.Pro1760=) c.5350C= (p.Pro1784=) | |
| 3 | g.38550965G>T | CA352141177 | SCN5A | c.5404C>A (p.Pro1802Thr) c.5407C>A (p.Pro1803Thr) c.5353C>A (p.Pro1785Thr) c.5245C>A (p.Pro1749Thr) c.5308C>A (p.Pro1770Thr) c.5278C>A (p.Pro1760Thr) c.5350C>A (p.Pro1784Thr) | |
| 3 | g.38550966G>A | CA433331712 | SCN5A | c.5403C>T (p.Asp1801=) c.5406C>T (p.Asp1802=) c.5352C>T (p.Asp1784=) c.5244C>T (p.Asp1748=) c.5307C>T (p.Asp1769=) c.5277C>T (p.Asp1759=) c.5349C>T (p.Asp1783=) | |
| 3 | g.38550966G>C | CA352141178 | SCN5A | c.5403C>G (p.Asp1801Glu) c.5406C>G (p.Asp1802Glu) c.5352C>G (p.Asp1784Glu) c.5244C>G (p.Asp1748Glu) c.5307C>G (p.Asp1769Glu) c.5277C>G (p.Asp1759Glu) c.5349C>G (p.Asp1783Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550966G= | CA1358557017 | SCN5A | c.5403C= (p.Asp1801=) c.5406C= (p.Asp1802=) c.5352C= (p.Asp1784=) c.5244C= (p.Asp1748=) c.5307C= (p.Asp1769=) c.5277C= (p.Asp1759=) c.5349C= (p.Asp1783=) | |
| 3 | g.38550966G>T | CA352141179 | SCN5A | c.5403C>A (p.Asp1801Glu) c.5406C>A (p.Asp1802Glu) c.5352C>A (p.Asp1784Glu) c.5244C>A (p.Asp1748Glu) c.5307C>A (p.Asp1769Glu) c.5277C>A (p.Asp1759Glu) c.5349C>A (p.Asp1783Glu) | |
| 3 | g.38550967T>A | CA352141180 | SCN5A | c.5402A>T (p.Asp1801Val) c.5405A>T (p.Asp1802Val) c.5351A>T (p.Asp1784Val) c.5243A>T (p.Asp1748Val) c.5306A>T (p.Asp1769Val) c.5276A>T (p.Asp1759Val) c.5348A>T (p.Asp1783Val) | |
| 3 | g.38550967T>C | CA019212 | SCN5A | c.5402A>G (p.Asp1801Gly) c.5405A>G (p.Asp1802Gly) c.5351A>G (p.Asp1784Gly) c.5243A>G (p.Asp1748Gly) c.5306A>G (p.Asp1769Gly) c.5276A>G (p.Asp1759Gly) c.5348A>G (p.Asp1783Gly) | ClinVar dbSNP |
| 3 | g.38550967T>G | CA352141181 | SCN5A | c.5402A>C (p.Asp1801Ala) c.5405A>C (p.Asp1802Ala) c.5351A>C (p.Asp1784Ala) c.5243A>C (p.Asp1748Ala) c.5306A>C (p.Asp1769Ala) c.5276A>C (p.Asp1759Ala) c.5348A>C (p.Asp1783Ala) | dbSNP |
| 3 | g.38550967T= | CA1358557025 | SCN5A | c.5402A= (p.Asp1801=) c.5405A= (p.Asp1802=) c.5351A= (p.Asp1784=) c.5243A= (p.Asp1748=) c.5306A= (p.Asp1769=) c.5276A= (p.Asp1759=) c.5348A= (p.Asp1783=) | |
| 3 | g.38550968C>A | CA352141182 | SCN5A | c.5401G>T (p.Asp1801Tyr) c.5404G>T (p.Asp1802Tyr) c.5350G>T (p.Asp1784Tyr) c.5242G>T (p.Asp1748Tyr) c.5305G>T (p.Asp1769Tyr) c.5275G>T (p.Asp1759Tyr) c.5347G>T (p.Asp1783Tyr) | |
| 3 | g.38550968C>G | CA352141183 | SCN5A | c.5401G>C (p.Asp1801His) c.5404G>C (p.Asp1802His) c.5350G>C (p.Asp1784His) c.5242G>C (p.Asp1748His) c.5305G>C (p.Asp1769His) c.5275G>C (p.Asp1759His) c.5347G>C (p.Asp1783His) | |
| 3 | g.38550968C>T | CA352141184 | SCN5A | c.5401G>A (p.Asp1801Asn) c.5404G>A (p.Asp1802Asn) c.5350G>A (p.Asp1784Asn) c.5242G>A (p.Asp1748Asn) c.5305G>A (p.Asp1769Asn) c.5275G>A (p.Asp1759Asn) c.5347G>A (p.Asp1783Asn) | |
| 3 | g.38550969A>C | CA352141185 | SCN5A | c.5400T>G (p.Phe1800Leu) c.5403T>G (p.Phe1801Leu) c.5349T>G (p.Phe1783Leu) c.5241T>G (p.Phe1747Leu) c.5304T>G (p.Phe1768Leu) c.5274T>G (p.Phe1758Leu) c.5346T>G (p.Phe1782Leu) | |
| 3 | g.38550969A>G | CA433331724 | SCN5A | c.5400T>C (p.Phe1800=) c.5403T>C (p.Phe1801=) c.5349T>C (p.Phe1783=) c.5241T>C (p.Phe1747=) c.5304T>C (p.Phe1768=) c.5274T>C (p.Phe1758=) c.5346T>C (p.Phe1782=) | |
| 3 | g.38550969A>T | CA352141186 | SCN5A | c.5400T>A (p.Phe1800Leu) c.5403T>A (p.Phe1801Leu) c.5349T>A (p.Phe1783Leu) c.5241T>A (p.Phe1747Leu) c.5304T>A (p.Phe1768Leu) c.5274T>A (p.Phe1758Leu) c.5346T>A (p.Phe1782Leu) | |
| 3 | g.38550970A= | CA1358557030 | SCN5A | c.5399T= (p.Phe1800=) c.5402T= (p.Phe1801=) c.5348T= (p.Phe1783=) c.5240T= (p.Phe1747=) c.5303T= (p.Phe1768=) c.5273T= (p.Phe1758=) c.5345T= (p.Phe1782=) | |
| 3 | g.38550970A>C | CA352141189 | SCN5A | c.5399T>G (p.Phe1800Cys) c.5402T>G (p.Phe1801Cys) c.5348T>G (p.Phe1783Cys) c.5240T>G (p.Phe1747Cys) c.5303T>G (p.Phe1768Cys) c.5273T>G (p.Phe1758Cys) c.5345T>G (p.Phe1782Cys) | |
| 3 | g.38550970A>G | CA352141187 | SCN5A | c.5399T>C (p.Phe1800Ser) c.5402T>C (p.Phe1801Ser) c.5348T>C (p.Phe1783Ser) c.5240T>C (p.Phe1747Ser) c.5303T>C (p.Phe1768Ser) c.5273T>C (p.Phe1758Ser) c.5345T>C (p.Phe1782Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38550970A>T | CA352141188 | SCN5A | c.5399T>A (p.Phe1800Tyr) c.5402T>A (p.Phe1801Tyr) c.5348T>A (p.Phe1783Tyr) c.5240T>A (p.Phe1747Tyr) c.5303T>A (p.Phe1768Tyr) c.5273T>A (p.Phe1758Tyr) c.5345T>A (p.Phe1782Tyr) | |
| 3 | g.38550971A>C | CA352141190 | SCN5A | c.5398T>G (p.Phe1800Val) c.5401T>G (p.Phe1801Val) c.5347T>G (p.Phe1783Val) c.5239T>G (p.Phe1747Val) c.5302T>G (p.Phe1768Val) c.5272T>G (p.Phe1758Val) c.5344T>G (p.Phe1782Val) | |
| 3 | g.38550971A>G | CA352141191 | SCN5A | c.5398T>C (p.Phe1800Leu) c.5401T>C (p.Phe1801Leu) c.5347T>C (p.Phe1783Leu) c.5239T>C (p.Phe1747Leu) c.5302T>C (p.Phe1768Leu) c.5272T>C (p.Phe1758Leu) c.5344T>C (p.Phe1782Leu) | |
| 3 | g.38550971A>T | CA352141192 | SCN5A | c.5398T>A (p.Phe1800Ile) c.5401T>A (p.Phe1801Ile) c.5347T>A (p.Phe1783Ile) c.5239T>A (p.Phe1747Ile) c.5302T>A (p.Phe1768Ile) c.5272T>A (p.Phe1758Ile) c.5344T>A (p.Phe1782Ile) | |
| 3 | g.38550972T>A | CA352141193 | SCN5A | c.5397A>T (p.Lys1799Asn) c.5400A>T (p.Lys1800Asn) c.5346A>T (p.Lys1782Asn) c.5238A>T (p.Lys1746Asn) c.5301A>T (p.Lys1767Asn) c.5271A>T (p.Lys1757Asn) c.5343A>T (p.Lys1781Asn) | |
| 3 | g.38550972T>C | CA064381 | SCN5A | c.5397A>G (p.Lys1799=) c.5400A>G (p.Lys1800=) c.5346A>G (p.Lys1782=) c.5238A>G (p.Lys1746=) c.5301A>G (p.Lys1767=) c.5271A>G (p.Lys1757=) c.5343A>G (p.Lys1781=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550972T>G | CA352141194 | SCN5A | c.5397A>C (p.Lys1799Asn) c.5400A>C (p.Lys1800Asn) c.5346A>C (p.Lys1782Asn) c.5238A>C (p.Lys1746Asn) c.5301A>C (p.Lys1767Asn) c.5271A>C (p.Lys1757Asn) c.5343A>C (p.Lys1781Asn) | |
| 3 | g.38550972T= | CA1358557034 | SCN5A | c.5397A= (p.Lys1799=) c.5400A= (p.Lys1800=) c.5346A= (p.Lys1782=) c.5238A= (p.Lys1746=) c.5301A= (p.Lys1767=) c.5271A= (p.Lys1757=) c.5343A= (p.Lys1781=) | |
| 3 | g.38550973T>A | CA352141197 | SCN5A | c.5396A>T (p.Lys1799Ile) c.5399A>T (p.Lys1800Ile) c.5345A>T (p.Lys1782Ile) c.5237A>T (p.Lys1746Ile) c.5300A>T (p.Lys1767Ile) c.5270A>T (p.Lys1757Ile) c.5342A>T (p.Lys1781Ile) | |
| 3 | g.38550973T>C | CA352141195 | SCN5A | c.5396A>G (p.Lys1799Arg) c.5399A>G (p.Lys1800Arg) c.5345A>G (p.Lys1782Arg) c.5237A>G (p.Lys1746Arg) c.5300A>G (p.Lys1767Arg) c.5270A>G (p.Lys1757Arg) c.5342A>G (p.Lys1781Arg) | |
| 3 | g.38550973T>G | CA352141196 | SCN5A | c.5396A>C (p.Lys1799Thr) c.5399A>C (p.Lys1800Thr) c.5345A>C (p.Lys1782Thr) c.5237A>C (p.Lys1746Thr) c.5300A>C (p.Lys1767Thr) c.5270A>C (p.Lys1757Thr) c.5342A>C (p.Lys1781Thr) | |
| 3 | g.38550974T>A | CA352141198 | SCN5A | c.5395A>T (p.Lys1799Ter) c.5398A>T (p.Lys1800Ter) c.5344A>T (p.Lys1782Ter) c.5236A>T (p.Lys1746Ter) c.5299A>T (p.Lys1767Ter) c.5269A>T (p.Lys1757Ter) c.5341A>T (p.Lys1781Ter) | dbSNP |
| 3 | g.38550974T>C | CA352141199 | SCN5A | c.5395A>G (p.Lys1799Glu) c.5398A>G (p.Lys1800Glu) c.5344A>G (p.Lys1782Glu) c.5236A>G (p.Lys1746Glu) c.5299A>G (p.Lys1767Glu) c.5269A>G (p.Lys1757Glu) c.5341A>G (p.Lys1781Glu) | |
| 3 | g.38550974T>G | CA352141200 | SCN5A | c.5395A>C (p.Lys1799Gln) c.5398A>C (p.Lys1800Gln) c.5344A>C (p.Lys1782Gln) c.5236A>C (p.Lys1746Gln) c.5299A>C (p.Lys1767Gln) c.5269A>C (p.Lys1757Gln) c.5341A>C (p.Lys1781Gln) | |
| 3 | g.38550974T= | CA1358557038 | SCN5A | c.5395A= (p.Lys1799=) c.5398A= (p.Lys1800=) c.5344A= (p.Lys1782=) c.5236A= (p.Lys1746=) c.5299A= (p.Lys1767=) c.5269A= (p.Lys1757=) c.5341A= (p.Lys1781=) | |
| 3 | g.38550975C>A | CA352141201 | SCN5A | c.5394G>T (p.Glu1798Asp) c.5397G>T (p.Glu1799Asp) c.5343G>T (p.Glu1781Asp) c.5235G>T (p.Glu1745Asp) c.5298G>T (p.Glu1766Asp) c.5268G>T (p.Glu1756Asp) c.5340G>T (p.Glu1780Asp) | |
| 3 | g.38550975C= | CA1358557042 | SCN5A | c.5394G= (p.Glu1798=) c.5397G= (p.Glu1799=) c.5343G= (p.Glu1781=) c.5235G= (p.Glu1745=) c.5298G= (p.Glu1766=) c.5268G= (p.Glu1756=) c.5340G= (p.Glu1780=) | |
| 3 | g.38550975C>G | CA352141202 | SCN5A | c.5394G>C (p.Glu1798Asp) c.5397G>C (p.Glu1799Asp) c.5343G>C (p.Glu1781Asp) c.5235G>C (p.Glu1745Asp) c.5298G>C (p.Glu1766Asp) c.5268G>C (p.Glu1756Asp) c.5340G>C (p.Glu1780Asp) | |
| 3 | g.38550975C>T | CA433331748 | SCN5A | c.5394G>A (p.Glu1798=) c.5397G>A (p.Glu1799=) c.5343G>A (p.Glu1781=) c.5235G>A (p.Glu1745=) c.5298G>A (p.Glu1766=) c.5268G>A (p.Glu1756=) c.5340G>A (p.Glu1780=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38550976T>A | CA352141205 | SCN5A | c.5393A>T (p.Glu1798Val) c.5396A>T (p.Glu1799Val) c.5342A>T (p.Glu1781Val) c.5234A>T (p.Glu1745Val) c.5297A>T (p.Glu1766Val) c.5267A>T (p.Glu1756Val) c.5339A>T (p.Glu1780Val) | |
| 3 | g.38550976T>C | CA352141203 | SCN5A | c.5393A>G (p.Glu1798Gly) c.5396A>G (p.Glu1799Gly) c.5342A>G (p.Glu1781Gly) c.5234A>G (p.Glu1745Gly) c.5297A>G (p.Glu1766Gly) c.5267A>G (p.Glu1756Gly) c.5339A>G (p.Glu1780Gly) | ClinVar dbSNP |
| 3 | g.38550976T>G | CA352141204 | SCN5A | c.5393A>C (p.Glu1798Ala) c.5396A>C (p.Glu1799Ala) c.5342A>C (p.Glu1781Ala) c.5234A>C (p.Glu1745Ala) c.5297A>C (p.Glu1766Ala) c.5267A>C (p.Glu1756Ala) c.5339A>C (p.Glu1780Ala) | |
| 3 | g.38550977C>A | CA352141206 | SCN5A | c.5392G>T (p.Glu1798Ter) c.5395G>T (p.Glu1799Ter) c.5341G>T (p.Glu1781Ter) c.5233G>T (p.Glu1745Ter) c.5296G>T (p.Glu1766Ter) c.5266G>T (p.Glu1756Ter) c.5338G>T (p.Glu1780Ter) | dbSNP |
| 3 | g.38550977C= | CA1358557046 | SCN5A | c.5392G= (p.Glu1798=) c.5395G= (p.Glu1799=) c.5341G= (p.Glu1781=) c.5233G= (p.Glu1745=) c.5296G= (p.Glu1766=) c.5266G= (p.Glu1756=) c.5338G= (p.Glu1780=) | |
| 3 | g.38550977C>G | CA352141207 | SCN5A | c.5392G>C (p.Glu1798Gln) c.5395G>C (p.Glu1799Gln) c.5341G>C (p.Glu1781Gln) c.5233G>C (p.Glu1745Gln) c.5296G>C (p.Glu1766Gln) c.5266G>C (p.Glu1756Gln) c.5338G>C (p.Glu1780Gln) | |
| 3 | g.38550977C>T | CA352141208 | SCN5A | c.5392G>A (p.Glu1798Lys) c.5395G>A (p.Glu1799Lys) c.5341G>A (p.Glu1781Lys) c.5233G>A (p.Glu1745Lys) c.5296G>A (p.Glu1766Lys) c.5266G>A (p.Glu1756Lys) c.5338G>A (p.Glu1780Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38550978C>A | CA352141209 | SCN5A | c.5391G>T (p.Trp1797Cys) c.5394G>T (p.Trp1798Cys) c.5340G>T (p.Trp1780Cys) c.5232G>T (p.Trp1744Cys) c.5295G>T (p.Trp1765Cys) c.5265G>T (p.Trp1755Cys) c.5337G>T (p.Trp1779Cys) | |
| 3 | g.38550978C>G | CA352141210 | SCN5A | c.5391G>C (p.Trp1797Cys) c.5394G>C (p.Trp1798Cys) c.5340G>C (p.Trp1780Cys) c.5232G>C (p.Trp1744Cys) c.5295G>C (p.Trp1765Cys) c.5265G>C (p.Trp1755Cys) c.5337G>C (p.Trp1779Cys) | |
| 3 | g.38550978C>T | CA352141211 | SCN5A | c.5391G>A (p.Trp1797Ter) c.5394G>A (p.Trp1798Ter) c.5340G>A (p.Trp1780Ter) c.5232G>A (p.Trp1744Ter) c.5295G>A (p.Trp1765Ter) c.5265G>A (p.Trp1755Ter) c.5337G>A (p.Trp1779Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38550979C>A | CA352141212 | SCN5A | c.5390G>T (p.Trp1797Leu) c.5393G>T (p.Trp1798Leu) c.5339G>T (p.Trp1780Leu) c.5231G>T (p.Trp1744Leu) c.5294G>T (p.Trp1765Leu) c.5264G>T (p.Trp1755Leu) c.5336G>T (p.Trp1779Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38550979C= | CA1358557049 | SCN5A | c.5390G= (p.Trp1797=) c.5393G= (p.Trp1798=) c.5339G= (p.Trp1780=) c.5231G= (p.Trp1744=) c.5294G= (p.Trp1765=) c.5264G= (p.Trp1755=) c.5336G= (p.Trp1779=) | |
| 3 | g.38550979C>G | CA352141213 | SCN5A | c.5390G>C (p.Trp1797Ser) c.5393G>C (p.Trp1798Ser) c.5339G>C (p.Trp1780Ser) c.5231G>C (p.Trp1744Ser) c.5294G>C (p.Trp1765Ser) c.5264G>C (p.Trp1755Ser) c.5336G>C (p.Trp1779Ser) | |
| 3 | g.38550979C>T | CA72937936 | SCN5A | c.5390G>A (p.Trp1797Ter) c.5393G>A (p.Trp1798Ter) c.5339G>A (p.Trp1780Ter) c.5231G>A (p.Trp1744Ter) c.5294G>A (p.Trp1765Ter) c.5264G>A (p.Trp1755Ter) c.5336G>A (p.Trp1779Ter) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38550980A>C | CA352141214 | SCN5A | c.5389T>G (p.Trp1797Gly) c.5392T>G (p.Trp1798Gly) c.5338T>G (p.Trp1780Gly) c.5230T>G (p.Trp1744Gly) c.5293T>G (p.Trp1765Gly) c.5263T>G (p.Trp1755Gly) c.5335T>G (p.Trp1779Gly) | |
| 3 | g.38550980A>G | CA352141215 | SCN5A | c.5389T>C (p.Trp1797Arg) c.5392T>C (p.Trp1798Arg) c.5338T>C (p.Trp1780Arg) c.5230T>C (p.Trp1744Arg) c.5293T>C (p.Trp1765Arg) c.5263T>C (p.Trp1755Arg) c.5335T>C (p.Trp1779Arg) | |
| 3 | g.38550980A>T | CA352141216 | SCN5A | c.5389T>A (p.Trp1797Arg) c.5392T>A (p.Trp1798Arg) c.5338T>A (p.Trp1780Arg) c.5230T>A (p.Trp1744Arg) c.5293T>A (p.Trp1765Arg) c.5263T>A (p.Trp1755Arg) c.5335T>A (p.Trp1779Arg) | |
| 3 | g.38550981G>A | CA433331768 | SCN5A | c.5388C>T (p.Ile1796=) c.5391C>T (p.Ile1797=) c.5337C>T (p.Ile1779=) c.5229C>T (p.Ile1743=) c.5292C>T (p.Ile1764=) c.5262C>T (p.Ile1754=) c.5334C>T (p.Ile1778=) | |
| 3 | g.38550981G>C | CA352141217 | SCN5A | c.5388C>G (p.Ile1796Met) c.5391C>G (p.Ile1797Met) c.5337C>G (p.Ile1779Met) c.5229C>G (p.Ile1743Met) c.5292C>G (p.Ile1764Met) c.5262C>G (p.Ile1754Met) c.5334C>G (p.Ile1778Met) | |
| 3 | g.38550981G>T | CA433331769 | SCN5A | c.5388C>A (p.Ile1796=) c.5391C>A (p.Ile1797=) c.5337C>A (p.Ile1779=) c.5229C>A (p.Ile1743=) c.5292C>A (p.Ile1764=) c.5262C>A (p.Ile1754=) c.5334C>A (p.Ile1778=) | |
| 3 | g.38550982A>C | CA352141218 | SCN5A | c.5387T>G (p.Ile1796Ser) c.5390T>G (p.Ile1797Ser) c.5336T>G (p.Ile1779Ser) c.5228T>G (p.Ile1743Ser) c.5291T>G (p.Ile1764Ser) c.5261T>G (p.Ile1754Ser) c.5333T>G (p.Ile1778Ser) | |
| 3 | g.38550982A>G | CA352141220 | SCN5A | c.5387T>C (p.Ile1796Thr) c.5390T>C (p.Ile1797Thr) c.5336T>C (p.Ile1779Thr) c.5228T>C (p.Ile1743Thr) c.5291T>C (p.Ile1764Thr) c.5261T>C (p.Ile1754Thr) c.5333T>C (p.Ile1778Thr) | |
| 3 | g.38550982A>T | CA352141219 | SCN5A | c.5387T>A (p.Ile1796Asn) c.5390T>A (p.Ile1797Asn) c.5336T>A (p.Ile1779Asn) c.5228T>A (p.Ile1743Asn) c.5291T>A (p.Ile1764Asn) c.5261T>A (p.Ile1754Asn) c.5333T>A (p.Ile1778Asn) | |
| 3 | g.38550983T>A | CA352141221 | SCN5A | c.5386A>T (p.Ile1796Phe) c.5389A>T (p.Ile1797Phe) c.5335A>T (p.Ile1779Phe) c.5227A>T (p.Ile1743Phe) c.5290A>T (p.Ile1764Phe) c.5260A>T (p.Ile1754Phe) c.5332A>T (p.Ile1778Phe) | |
| 3 | g.38550983T>C | CA064371 | SCN5A | c.5386A>G (p.Ile1796Val) c.5389A>G (p.Ile1797Val) c.5335A>G (p.Ile1779Val) c.5227A>G (p.Ile1743Val) c.5290A>G (p.Ile1764Val) c.5260A>G (p.Ile1754Val) c.5332A>G (p.Ile1778Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550983T>G | CA352141222 | SCN5A | c.5386A>C (p.Ile1796Leu) c.5389A>C (p.Ile1797Leu) c.5335A>C (p.Ile1779Leu) c.5227A>C (p.Ile1743Leu) c.5290A>C (p.Ile1764Leu) c.5260A>C (p.Ile1754Leu) c.5332A>C (p.Ile1778Leu) | |
| 3 | g.38550983T= | CA1358557053 | SCN5A | c.5386A= (p.Ile1796=) c.5389A= (p.Ile1797=) c.5335A= (p.Ile1779=) c.5227A= (p.Ile1743=) c.5290A= (p.Ile1764=) c.5260A= (p.Ile1754=) c.5332A= (p.Ile1778=) | |
| 3 | g.38550984C>A | CA352141223 | SCN5A | c.5385G>T (p.Glu1795Asp) c.5388G>T (p.Glu1796Asp) c.5334G>T (p.Glu1778Asp) c.5226G>T (p.Glu1742Asp) c.5289G>T (p.Glu1763Asp) c.5259G>T (p.Glu1753Asp) c.5331G>T (p.Glu1777Asp) | ClinVar dbSNP |
| 3 | g.38550984C= | CA1358557057 | SCN5A | c.5385G= (p.Glu1795=) c.5388G= (p.Glu1796=) c.5334G= (p.Glu1778=) c.5226G= (p.Glu1742=) c.5289G= (p.Glu1763=) c.5259G= (p.Glu1753=) c.5331G= (p.Glu1777=) | |
| 3 | g.38550984C>G | CA352141224 | SCN5A | c.5385G>C (p.Glu1795Asp) c.5388G>C (p.Glu1796Asp) c.5334G>C (p.Glu1778Asp) c.5226G>C (p.Glu1742Asp) c.5289G>C (p.Glu1763Asp) c.5259G>C (p.Glu1753Asp) c.5331G>C (p.Glu1777Asp) | dbSNP |
| 3 | g.38550984C>T | CA433331774 | SCN5A | c.5385G>A (p.Glu1795=) c.5388G>A (p.Glu1796=) c.5334G>A (p.Glu1778=) c.5226G>A (p.Glu1742=) c.5289G>A (p.Glu1763=) c.5259G>A (p.Glu1753=) c.5331G>A (p.Glu1777=) | |
| 3 | g.38550985T>A | CA352141225 | SCN5A | c.5384A>T (p.Glu1795Val) c.5387A>T (p.Glu1796Val) c.5333A>T (p.Glu1778Val) c.5225A>T (p.Glu1742Val) c.5288A>T (p.Glu1763Val) c.5258A>T (p.Glu1753Val) c.5330A>T (p.Glu1777Val) | |
| 3 | g.38550985T>C | CA352141226 | SCN5A | c.5384A>G (p.Glu1795Gly) c.5387A>G (p.Glu1796Gly) c.5333A>G (p.Glu1778Gly) c.5225A>G (p.Glu1742Gly) c.5288A>G (p.Glu1763Gly) c.5258A>G (p.Glu1753Gly) c.5330A>G (p.Glu1777Gly) | |
| 3 | g.38550985T>G | CA352141227 | SCN5A | c.5384A>C (p.Glu1795Ala) c.5387A>C (p.Glu1796Ala) c.5333A>C (p.Glu1778Ala) c.5225A>C (p.Glu1742Ala) c.5288A>C (p.Glu1763Ala) c.5258A>C (p.Glu1753Ala) c.5330A>C (p.Glu1777Ala) | |
| 3 | g.38550986_38550988dup | CA025554 | SCN5A | c.5382_5384dup (p.Tyr1794_Glu1795insAsp) c.5385_5387dup (p.Tyr1795_Glu1796insAsp) c.5331_5333dup (p.Tyr1777_Glu1778insAsp) c.5223_5225dup (p.Tyr1741_Glu1742insAsp) c.5286_5288dup (p.Tyr1762_Glu1763insAsp) c.5256_5258dup (p.Tyr1752_Glu1753insAsp) c.5328_5330dup (p.Tyr1776_Glu1777insAsp) | ClinVar dbSNP |
| 3 | g.38550986C>A | CA352141228 | SCN5A | c.5383G>T (p.Glu1795Ter) c.5386G>T (p.Glu1796Ter) c.5332G>T (p.Glu1778Ter) c.5224G>T (p.Glu1742Ter) c.5287G>T (p.Glu1763Ter) c.5257G>T (p.Glu1753Ter) c.5329G>T (p.Glu1777Ter) | ClinVar dbSNP |
| 3 | g.38550986C= | CA1358557066 | SCN5A | c.5383G= (p.Glu1795=) c.5386G= (p.Glu1796=) c.5332G= (p.Glu1778=) c.5224G= (p.Glu1742=) c.5287G= (p.Glu1763=) c.5257G= (p.Glu1753=) c.5329G= (p.Glu1777=) | |
| 3 | g.38550986C>G | CA352141229 | SCN5A | c.5383G>C (p.Glu1795Gln) c.5386G>C (p.Glu1796Gln) c.5332G>C (p.Glu1778Gln) c.5224G>C (p.Glu1742Gln) c.5287G>C (p.Glu1763Gln) c.5257G>C (p.Glu1753Gln) c.5329G>C (p.Glu1777Gln) | |
| 3 | g.38550986C>T | CA352141230 | SCN5A | c.5383G>A (p.Glu1795Lys) c.5386G>A (p.Glu1796Lys) c.5332G>A (p.Glu1778Lys) c.5224G>A (p.Glu1742Lys) c.5287G>A (p.Glu1763Lys) c.5257G>A (p.Glu1753Lys) c.5329G>A (p.Glu1777Lys) | |
| 3 | g.38550986_38550988delinsCAT | CA1358557065 | SCN5A | c.5381_5383delinsATG (p.Tyr1794=) c.5384_5386delinsATG (p.Tyr1795=) c.5330_5332delinsATG (p.Tyr1777=) c.5222_5224delinsATG (p.Tyr1741=) c.5285_5287delinsATG (p.Tyr1762=) c.5255_5257delinsATG (p.Tyr1752=) c.5327_5329delinsATG (p.Tyr1776=) | |
| 3 | g.38550987A>C | CA352141231 | SCN5A | c.5382T>G (p.Tyr1794Ter) c.5385T>G (p.Tyr1795Ter) c.5331T>G (p.Tyr1777Ter) c.5223T>G (p.Tyr1741Ter) c.5286T>G (p.Tyr1762Ter) c.5256T>G (p.Tyr1752Ter) c.5328T>G (p.Tyr1776Ter) | gnomAD v4 |
| 3 | g.38550987A>G | CA433331787 | SCN5A | c.5382T>C (p.Tyr1794=) c.5385T>C (p.Tyr1795=) c.5331T>C (p.Tyr1777=) c.5223T>C (p.Tyr1741=) c.5286T>C (p.Tyr1762=) c.5256T>C (p.Tyr1752=) c.5328T>C (p.Tyr1776=) | ClinVar gnomAD v4 |
| 3 | g.38550987A>T | CA352141232 | SCN5A | c.5382T>A (p.Tyr1794Ter) c.5385T>A (p.Tyr1795Ter) c.5331T>A (p.Tyr1777Ter) c.5223T>A (p.Tyr1741Ter) c.5286T>A (p.Tyr1762Ter) c.5256T>A (p.Tyr1752Ter) c.5328T>A (p.Tyr1776Ter) | |
| 3 | g.38550988_38550989del | CA891843408 | SCN5A | c.5381_5382del (p.Tyr1794Ter) c.5384_5385del (p.Tyr1795Ter) c.5330_5331del (p.Tyr1777Ter) c.5222_5223del (p.Tyr1741Ter) c.5285_5286del (p.Tyr1762Ter) c.5255_5256del (p.Tyr1752Ter) c.5327_5328del (p.Tyr1776Ter) | ClinVar dbSNP |
| 3 | g.38550988T>A | CA352141234 | SCN5A | c.5381A>T (p.Tyr1794Phe) c.5384A>T (p.Tyr1795Phe) c.5330A>T (p.Tyr1777Phe) c.5222A>T (p.Tyr1741Phe) c.5285A>T (p.Tyr1762Phe) c.5255A>T (p.Tyr1752Phe) c.5327A>T (p.Tyr1776Phe) | |
| 3 | g.38550988T>C | CA019196 | SCN5A | c.5381A>G (p.Tyr1794Cys) c.5384A>G (p.Tyr1795Cys) c.5330A>G (p.Tyr1777Cys) c.5222A>G (p.Tyr1741Cys) c.5285A>G (p.Tyr1762Cys) c.5255A>G (p.Tyr1752Cys) c.5327A>G (p.Tyr1776Cys) | ClinVar dbSNP |
| 3 | g.38550988T>G | CA352141233 | SCN5A | c.5381A>C (p.Tyr1794Ser) c.5384A>C (p.Tyr1795Ser) c.5330A>C (p.Tyr1777Ser) c.5222A>C (p.Tyr1741Ser) c.5285A>C (p.Tyr1762Ser) c.5255A>C (p.Tyr1752Ser) c.5327A>C (p.Tyr1776Ser) | |
| 3 | g.38550988T= | CA1358557075 | SCN5A | c.5381A= (p.Tyr1794=) c.5384A= (p.Tyr1795=) c.5330A= (p.Tyr1777=) c.5222A= (p.Tyr1741=) c.5285A= (p.Tyr1762=) c.5255A= (p.Tyr1752=) c.5327A= (p.Tyr1776=) | |
| 3 | g.38550989A= | CA1358557082 | SCN5A | c.5380T= (p.Tyr1794=) c.5383T= (p.Tyr1795=) c.5329T= (p.Tyr1777=) c.5221T= (p.Tyr1741=) c.5284T= (p.Tyr1762=) c.5254T= (p.Tyr1752=) c.5326T= (p.Tyr1776=) | |
| 3 | g.38550989A>C | CA352141235 | SCN5A | c.5380T>G (p.Tyr1794Asp) c.5383T>G (p.Tyr1795Asp) c.5329T>G (p.Tyr1777Asp) c.5221T>G (p.Tyr1741Asp) c.5284T>G (p.Tyr1762Asp) c.5254T>G (p.Tyr1752Asp) c.5326T>G (p.Tyr1776Asp) | |
| 3 | g.38550989A>G | CA019191 | SCN5A | c.5380T>C (p.Tyr1794His) c.5383T>C (p.Tyr1795His) c.5329T>C (p.Tyr1777His) c.5221T>C (p.Tyr1741His) c.5284T>C (p.Tyr1762His) c.5254T>C (p.Tyr1752His) c.5326T>C (p.Tyr1776His) | ClinVar dbSNP |
| 3 | g.38550989A>T | CA352141236 | SCN5A | c.5380T>A (p.Tyr1794Asn) c.5383T>A (p.Tyr1795Asn) c.5329T>A (p.Tyr1777Asn) c.5221T>A (p.Tyr1741Asn) c.5284T>A (p.Tyr1762Asn) c.5254T>A (p.Tyr1752Asn) c.5326T>A (p.Tyr1776Asn) | |
| 3 | g.38550990G>A | CA433331803 | SCN5A | c.5379C>T (p.Phe1793=) c.5382C>T (p.Phe1794=) c.5328C>T (p.Phe1776=) c.5220C>T (p.Phe1740=) c.5283C>T (p.Phe1761=) c.5253C>T (p.Phe1751=) c.5325C>T (p.Phe1775=) | |
| 3 | g.38550990G>C | CA352141237 | SCN5A | c.5379C>G (p.Phe1793Leu) c.5382C>G (p.Phe1794Leu) c.5328C>G (p.Phe1776Leu) c.5220C>G (p.Phe1740Leu) c.5283C>G (p.Phe1761Leu) c.5253C>G (p.Phe1751Leu) c.5325C>G (p.Phe1775Leu) | |
| 3 | g.38550990G>T | CA352141238 | SCN5A | c.5379C>A (p.Phe1793Leu) c.5382C>A (p.Phe1794Leu) c.5328C>A (p.Phe1776Leu) c.5220C>A (p.Phe1740Leu) c.5283C>A (p.Phe1761Leu) c.5253C>A (p.Phe1751Leu) c.5325C>A (p.Phe1775Leu) | |
| 3 | g.38550990_38550991delinsGA | CA1358557086 | SCN5A | c.5378_5379delinsTC (p.Phe1793=) c.5381_5382delinsTC (p.Phe1794=) c.5327_5328delinsTC (p.Phe1776=) c.5219_5220delinsTC (p.Phe1740=) c.5282_5283delinsTC (p.Phe1761=) c.5252_5253delinsTC (p.Phe1751=) c.5324_5325delinsTC (p.Phe1775=) | |
| 3 | g.38550991A>C | CA352141239 | SCN5A | c.5378T>G (p.Phe1793Cys) c.5381T>G (p.Phe1794Cys) c.5327T>G (p.Phe1776Cys) c.5219T>G (p.Phe1740Cys) c.5282T>G (p.Phe1761Cys) c.5252T>G (p.Phe1751Cys) c.5324T>G (p.Phe1775Cys) | |
| 3 | g.38550991A>G | CA352141240 | SCN5A | c.5378T>C (p.Phe1793Ser) c.5381T>C (p.Phe1794Ser) c.5327T>C (p.Phe1776Ser) c.5219T>C (p.Phe1740Ser) c.5282T>C (p.Phe1761Ser) c.5252T>C (p.Phe1751Ser) c.5324T>C (p.Phe1775Ser) | |
| 3 | g.38550991A>T | CA352141241 | SCN5A | c.5378T>A (p.Phe1793Tyr) c.5381T>A (p.Phe1794Tyr) c.5327T>A (p.Phe1776Tyr) c.5219T>A (p.Phe1740Tyr) c.5282T>A (p.Phe1761Tyr) c.5252T>A (p.Phe1751Tyr) c.5324T>A (p.Phe1775Tyr) | |
| 3 | g.38550992del | CA916079918 | SCN5A | c.5378del (p.Phe1793SerfsTer?) c.5381del (p.Phe1794SerfsTer?) c.5327del (p.Phe1776SerfsTer?) c.5219del (p.Phe1740SerfsTer?) c.5282del (p.Phe1761SerfsTer?) c.5252del (p.Phe1751SerfsTer?) c.5324del (p.Phe1775SerfsTer?) | ClinVar dbSNP |
| 3 | g.38550992A>C | CA352141242 | SCN5A | c.5377T>G (p.Phe1793Val) c.5380T>G (p.Phe1794Val) c.5326T>G (p.Phe1776Val) c.5218T>G (p.Phe1740Val) c.5281T>G (p.Phe1761Val) c.5251T>G (p.Phe1751Val) c.5323T>G (p.Phe1775Val) | |
| 3 | g.38550992A>G | CA352141243 | SCN5A | c.5377T>C (p.Phe1793Leu) c.5380T>C (p.Phe1794Leu) c.5326T>C (p.Phe1776Leu) c.5218T>C (p.Phe1740Leu) c.5281T>C (p.Phe1761Leu) c.5251T>C (p.Phe1751Leu) c.5323T>C (p.Phe1775Leu) | gnomAD v4 |
| 3 | g.38550992A>T | CA352141244 | SCN5A | c.5377T>A (p.Phe1793Ile) c.5380T>A (p.Phe1794Ile) c.5326T>A (p.Phe1776Ile) c.5218T>A (p.Phe1740Ile) c.5281T>A (p.Phe1761Ile) c.5251T>A (p.Phe1751Ile) c.5323T>A (p.Phe1775Ile) | |
| 3 | g.38550993C>A | CA352141247 | SCN5A | c.5376G>T (p.Met1792Ile) c.5379G>T (p.Met1793Ile) c.5325G>T (p.Met1775Ile) c.5217G>T (p.Met1739Ile) c.5280G>T (p.Met1760Ile) c.5250G>T (p.Met1750Ile) c.5322G>T (p.Met1774Ile) | |
| 3 | g.38550993C= | CA1358557091 | SCN5A | c.5376G= (p.Met1792=) c.5379G= (p.Met1793=) c.5325G= (p.Met1775=) c.5217G= (p.Met1739=) c.5280G= (p.Met1760=) c.5250G= (p.Met1750=) c.5322G= (p.Met1774=) | |
| 3 | g.38550993C>G | CA352141246 | SCN5A | c.5376G>C (p.Met1792Ile) c.5379G>C (p.Met1793Ile) c.5325G>C (p.Met1775Ile) c.5217G>C (p.Met1739Ile) c.5280G>C (p.Met1760Ile) c.5250G>C (p.Met1750Ile) c.5322G>C (p.Met1774Ile) | dbSNP |
| 3 | g.38550993C>T | CA352141245 | SCN5A | c.5376G>A (p.Met1792Ile) c.5379G>A (p.Met1793Ile) c.5325G>A (p.Met1775Ile) c.5217G>A (p.Met1739Ile) c.5280G>A (p.Met1760Ile) c.5250G>A (p.Met1750Ile) c.5322G>A (p.Met1774Ile) | ClinVar dbSNP |
| 3 | g.38550994A= | CA1358557095 | SCN5A | c.5375T= (p.Met1792=) c.5378T= (p.Met1793=) c.5324T= (p.Met1775=) c.5216T= (p.Met1739=) c.5279T= (p.Met1760=) c.5249T= (p.Met1750=) c.5321T= (p.Met1774=) | |
| 3 | g.38550994A>C | CA352141248 | SCN5A | c.5375T>G (p.Met1792Arg) c.5378T>G (p.Met1793Arg) c.5324T>G (p.Met1775Arg) c.5216T>G (p.Met1739Arg) c.5279T>G (p.Met1760Arg) c.5249T>G (p.Met1750Arg) c.5321T>G (p.Met1774Arg) | |
| 3 | g.38550994A>G | CA352141249 | SCN5A | c.5375T>C (p.Met1792Thr) c.5378T>C (p.Met1793Thr) c.5324T>C (p.Met1775Thr) c.5216T>C (p.Met1739Thr) c.5279T>C (p.Met1760Thr) c.5249T>C (p.Met1750Thr) c.5321T>C (p.Met1774Thr) | |
| 3 | g.38550994A>T | CA019186 | SCN5A | c.5375T>A (p.Met1792Lys) c.5378T>A (p.Met1793Lys) c.5324T>A (p.Met1775Lys) c.5216T>A (p.Met1739Lys) c.5279T>A (p.Met1760Lys) c.5249T>A (p.Met1750Lys) c.5321T>A (p.Met1774Lys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38550995T>A | CA352141250 | SCN5A | c.5374A>T (p.Met1792Leu) c.5377A>T (p.Met1793Leu) c.5323A>T (p.Met1775Leu) c.5215A>T (p.Met1739Leu) c.5278A>T (p.Met1760Leu) c.5248A>T (p.Met1750Leu) c.5320A>T (p.Met1774Leu) | |
| 3 | g.38550995T>C | CA352141251 | SCN5A | c.5374A>G (p.Met1792Val) c.5377A>G (p.Met1793Val) c.5323A>G (p.Met1775Val) c.5215A>G (p.Met1739Val) c.5278A>G (p.Met1760Val) c.5248A>G (p.Met1750Val) c.5320A>G (p.Met1774Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550995T>G | CA352141252 | SCN5A | c.5374A>C (p.Met1792Leu) c.5377A>C (p.Met1793Leu) c.5323A>C (p.Met1775Leu) c.5215A>C (p.Met1739Leu) c.5278A>C (p.Met1760Leu) c.5248A>C (p.Met1750Leu) c.5320A>C (p.Met1774Leu) | |
| 3 | g.38550995T= | CA1358557098 | SCN5A | c.5374A= (p.Met1792=) c.5377A= (p.Met1793=) c.5323A= (p.Met1775=) c.5215A= (p.Met1739=) c.5278A= (p.Met1760=) c.5248A= (p.Met1750=) c.5320A= (p.Met1774=) | |
| 3 | g.38550996A= | CA1358557101 | SCN5A | c.5373T= (p.Asp1791=) c.5376T= (p.Asp1792=) c.5322T= (p.Asp1774=) c.5214T= (p.Asp1738=) c.5277T= (p.Asp1759=) c.5247T= (p.Asp1749=) c.5319T= (p.Asp1773=) | |
| 3 | g.38550996A>C | CA352141253 | SCN5A | c.5373T>G (p.Asp1791Glu) c.5376T>G (p.Asp1792Glu) c.5322T>G (p.Asp1774Glu) c.5214T>G (p.Asp1738Glu) c.5277T>G (p.Asp1759Glu) c.5247T>G (p.Asp1749Glu) c.5319T>G (p.Asp1773Glu) | |
| 3 | g.38550996A>G | CA433331812 | SCN5A | c.5373T>C (p.Asp1791=) c.5376T>C (p.Asp1792=) c.5322T>C (p.Asp1774=) c.5214T>C (p.Asp1738=) c.5277T>C (p.Asp1759=) c.5247T>C (p.Asp1749=) c.5319T>C (p.Asp1773=) | gnomAD v4 |
| 3 | g.38550996A>T | CA72937945 | SCN5A | c.5373T>A (p.Asp1791Glu) c.5376T>A (p.Asp1792Glu) c.5322T>A (p.Asp1774Glu) c.5214T>A (p.Asp1738Glu) c.5277T>A (p.Asp1759Glu) c.5247T>A (p.Asp1749Glu) c.5319T>A (p.Asp1773Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38550997T>A | CA064366 | SCN5A | c.5372A>T (p.Asp1791Val) c.5375A>T (p.Asp1792Val) c.5321A>T (p.Asp1774Val) c.5213A>T (p.Asp1738Val) c.5276A>T (p.Asp1759Val) c.5246A>T (p.Asp1749Val) c.5318A>T (p.Asp1773Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38550997T>C | CA352141254 | SCN5A | c.5372A>G (p.Asp1791Gly) c.5375A>G (p.Asp1792Gly) c.5321A>G (p.Asp1774Gly) c.5213A>G (p.Asp1738Gly) c.5276A>G (p.Asp1759Gly) c.5246A>G (p.Asp1749Gly) c.5318A>G (p.Asp1773Gly) | dbSNP gnomAD v4 |
| 3 | g.38550997T>G | CA352141255 | SCN5A | c.5372A>C (p.Asp1791Ala) c.5375A>C (p.Asp1792Ala) c.5321A>C (p.Asp1774Ala) c.5213A>C (p.Asp1738Ala) c.5276A>C (p.Asp1759Ala) c.5246A>C (p.Asp1749Ala) c.5318A>C (p.Asp1773Ala) | |
| 3 | g.38550997T= | CA1358557109 | SCN5A | c.5372A= (p.Asp1791=) c.5375A= (p.Asp1792=) c.5321A= (p.Asp1774=) c.5213A= (p.Asp1738=) c.5276A= (p.Asp1759=) c.5246A= (p.Asp1749=) c.5318A= (p.Asp1773=) | |
| 3 | g.38550998C>A | CA352141256 | SCN5A | c.5371G>T (p.Asp1791Tyr) c.5374G>T (p.Asp1792Tyr) c.5320G>T (p.Asp1774Tyr) c.5212G>T (p.Asp1738Tyr) c.5275G>T (p.Asp1759Tyr) c.5245G>T (p.Asp1749Tyr) c.5317G>T (p.Asp1773Tyr) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38550998C= | CA1358557113 | SCN5A | c.5371G= (p.Asp1791=) c.5374G= (p.Asp1792=) c.5320G= (p.Asp1774=) c.5212G= (p.Asp1738=) c.5275G= (p.Asp1759=) c.5245G= (p.Asp1749=) c.5317G= (p.Asp1773=) | |
| 3 | g.38550998C>G | CA352141257 | SCN5A | c.5371G>C (p.Asp1791His) c.5374G>C (p.Asp1792His) c.5320G>C (p.Asp1774His) c.5212G>C (p.Asp1738His) c.5275G>C (p.Asp1759His) c.5245G>C (p.Asp1749His) c.5317G>C (p.Asp1773His) | |
| 3 | g.38550998C>T | CA019179 | SCN5A | c.5371G>A (p.Asp1791Asn) c.5374G>A (p.Asp1792Asn) c.5320G>A (p.Asp1774Asn) c.5212G>A (p.Asp1738Asn) c.5275G>A (p.Asp1759Asn) c.5245G>A (p.Asp1749Asn) c.5317G>A (p.Asp1773Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550999G>A | CA16604463 | SCN5A | c.5370C>T (p.Phe1790=) c.5373C>T (p.Phe1791=) c.5319C>T (p.Phe1773=) c.5211C>T (p.Phe1737=) c.5274C>T (p.Phe1758=) c.5244C>T (p.Phe1748=) c.5316C>T (p.Phe1772=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38550999G>C | CA352141259 | SCN5A | c.5370C>G (p.Phe1790Leu) c.5373C>G (p.Phe1791Leu) c.5319C>G (p.Phe1773Leu) c.5211C>G (p.Phe1737Leu) c.5274C>G (p.Phe1758Leu) c.5244C>G (p.Phe1748Leu) c.5316C>G (p.Phe1772Leu) | dbSNP |
| 3 | g.38550999G= | CA1358557119 | SCN5A | c.5370C= (p.Phe1790=) c.5373C= (p.Phe1791=) c.5319C= (p.Phe1773=) c.5211C= (p.Phe1737=) c.5274C= (p.Phe1758=) c.5244C= (p.Phe1748=) c.5316C= (p.Phe1772=) | |
| 3 | g.38550999G>T | CA352141258 | SCN5A | c.5370C>A (p.Phe1790Leu) c.5373C>A (p.Phe1791Leu) c.5319C>A (p.Phe1773Leu) c.5211C>A (p.Phe1737Leu) c.5274C>A (p.Phe1758Leu) c.5244C>A (p.Phe1748Leu) c.5316C>A (p.Phe1772Leu) | |
| 3 | g.38551000A>C | CA352141260 | SCN5A | c.5369T>G (p.Phe1790Cys) c.5372T>G (p.Phe1791Cys) c.5318T>G (p.Phe1773Cys) c.5210T>G (p.Phe1737Cys) c.5273T>G (p.Phe1758Cys) c.5243T>G (p.Phe1748Cys) c.5315T>G (p.Phe1772Cys) | |
| 3 | g.38551000A>G | CA352141261 | SCN5A | c.5369T>C (p.Phe1790Ser) c.5372T>C (p.Phe1791Ser) c.5318T>C (p.Phe1773Ser) c.5210T>C (p.Phe1737Ser) c.5273T>C (p.Phe1758Ser) c.5243T>C (p.Phe1748Ser) c.5315T>C (p.Phe1772Ser) | |
| 3 | g.38551000A>T | CA352141262 | SCN5A | c.5369T>A (p.Phe1790Tyr) c.5372T>A (p.Phe1791Tyr) c.5318T>A (p.Phe1773Tyr) c.5210T>A (p.Phe1737Tyr) c.5273T>A (p.Phe1758Tyr) c.5243T>A (p.Phe1748Tyr) c.5315T>A (p.Phe1772Tyr) | |
| 3 | g.38551001A>C | CA352141263 | SCN5A | c.5368T>G (p.Phe1790Val) c.5371T>G (p.Phe1791Val) c.5317T>G (p.Phe1773Val) c.5209T>G (p.Phe1737Val) c.5272T>G (p.Phe1758Val) c.5242T>G (p.Phe1748Val) c.5314T>G (p.Phe1772Val) | COSMIC COSMIC COSMIC |
| 3 | g.38551001A>G | CA352141264 | SCN5A | c.5368T>C (p.Phe1790Leu) c.5371T>C (p.Phe1791Leu) c.5317T>C (p.Phe1773Leu) c.5209T>C (p.Phe1737Leu) c.5272T>C (p.Phe1758Leu) c.5242T>C (p.Phe1748Leu) c.5314T>C (p.Phe1772Leu) | |
| 3 | g.38551001A>T | CA352141265 | SCN5A | c.5368T>A (p.Phe1790Ile) c.5371T>A (p.Phe1791Ile) c.5317T>A (p.Phe1773Ile) c.5209T>A (p.Phe1737Ile) c.5272T>A (p.Phe1758Ile) c.5242T>A (p.Phe1748Ile) c.5314T>A (p.Phe1772Ile) | |
| 3 | g.38551002G>A | CA433331836 | SCN5A | c.5367C>T (p.Asp1789=) c.5370C>T (p.Asp1790=) c.5316C>T (p.Asp1772=) c.5208C>T (p.Asp1736=) c.5271C>T (p.Asp1757=) c.5241C>T (p.Asp1747=) c.5313C>T (p.Asp1771=) | ClinVar |
| 3 | g.38551002G>C | CA352141266 | SCN5A | c.5367C>G (p.Asp1789Glu) c.5370C>G (p.Asp1790Glu) c.5316C>G (p.Asp1772Glu) c.5208C>G (p.Asp1736Glu) c.5271C>G (p.Asp1757Glu) c.5241C>G (p.Asp1747Glu) c.5313C>G (p.Asp1771Glu) | |
| 3 | g.38551002G>T | CA352141267 | SCN5A | c.5367C>A (p.Asp1789Glu) c.5370C>A (p.Asp1790Glu) c.5316C>A (p.Asp1772Glu) c.5208C>A (p.Asp1736Glu) c.5271C>A (p.Asp1757Glu) c.5241C>A (p.Asp1747Glu) c.5313C>A (p.Asp1771Glu) | |
| 3 | g.38551005_38551007del | CA2586965777 | SCN5A | c.5365_5367del (p.Asp1789del) c.5368_5370del (p.Asp1790del) c.5314_5316del (p.Asp1772del) c.5206_5208del (p.Asp1736del) c.5269_5271del (p.Asp1757del) c.5239_5241del (p.Asp1747del) c.5311_5313del (p.Asp1771del) | |
| 3 | g.38551003T>A | CA352141268 | SCN5A | c.5366A>T (p.Asp1789Val) c.5369A>T (p.Asp1790Val) c.5315A>T (p.Asp1772Val) c.5207A>T (p.Asp1736Val) c.5270A>T (p.Asp1757Val) c.5240A>T (p.Asp1747Val) c.5312A>T (p.Asp1771Val) | |
| 3 | g.38551003T>C | CA019174 | SCN5A | c.5366A>G (p.Asp1789Gly) c.5369A>G (p.Asp1790Gly) c.5315A>G (p.Asp1772Gly) c.5207A>G (p.Asp1736Gly) c.5270A>G (p.Asp1757Gly) c.5240A>G (p.Asp1747Gly) c.5312A>G (p.Asp1771Gly) | ClinVar dbSNP |
| 3 | g.38551003T>G | CA352141269 | SCN5A | c.5366A>C (p.Asp1789Ala) c.5369A>C (p.Asp1790Ala) c.5315A>C (p.Asp1772Ala) c.5207A>C (p.Asp1736Ala) c.5270A>C (p.Asp1757Ala) c.5240A>C (p.Asp1747Ala) c.5312A>C (p.Asp1771Ala) | |
| 3 | g.38551003T= | CA1358557127 | SCN5A | c.5366A= (p.Asp1789=) c.5369A= (p.Asp1790=) c.5315A= (p.Asp1772=) c.5207A= (p.Asp1736=) c.5270A= (p.Asp1757=) c.5240A= (p.Asp1747=) c.5312A= (p.Asp1771=) | |
| 3 | g.38551004C>A | CA352141270 | SCN5A | c.5365G>T (p.Asp1789Tyr) c.5368G>T (p.Asp1790Tyr) c.5314G>T (p.Asp1772Tyr) c.5206G>T (p.Asp1736Tyr) c.5269G>T (p.Asp1757Tyr) c.5239G>T (p.Asp1747Tyr) c.5311G>T (p.Asp1771Tyr) | |
| 3 | g.38551004C= | CA1358557135 | SCN5A | c.5365G= (p.Asp1789=) c.5368G= (p.Asp1790=) c.5314G= (p.Asp1772=) c.5206G= (p.Asp1736=) c.5269G= (p.Asp1757=) c.5239G= (p.Asp1747=) c.5311G= (p.Asp1771=) | |
| 3 | g.38551004C>G | CA352141271 | SCN5A | c.5365G>C (p.Asp1789His) c.5368G>C (p.Asp1790His) c.5314G>C (p.Asp1772His) c.5206G>C (p.Asp1736His) c.5269G>C (p.Asp1757His) c.5239G>C (p.Asp1747His) c.5311G>C (p.Asp1771His) | |
| 3 | g.38551004C>T | CA064352 | SCN5A | c.5365G>A (p.Asp1789Asn) c.5368G>A (p.Asp1790Asn) c.5314G>A (p.Asp1772Asn) c.5206G>A (p.Asp1736Asn) c.5269G>A (p.Asp1757Asn) c.5239G>A (p.Asp1747Asn) c.5311G>A (p.Asp1771Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551005G>A | CA019169 | SCN5A | c.5364C>T (p.Asp1788=) c.5367C>T (p.Asp1789=) c.5313C>T (p.Asp1771=) c.5205C>T (p.Asp1735=) c.5268C>T (p.Asp1756=) c.5238C>T (p.Asp1746=) c.5310C>T (p.Asp1770=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551005G>C | CA352141273 | SCN5A | c.5364C>G (p.Asp1788Glu) c.5367C>G (p.Asp1789Glu) c.5313C>G (p.Asp1771Glu) c.5205C>G (p.Asp1735Glu) c.5268C>G (p.Asp1756Glu) c.5238C>G (p.Asp1746Glu) c.5310C>G (p.Asp1770Glu) | |
| 3 | g.38551005G= | CA1358557140 | SCN5A | c.5364C= (p.Asp1788=) c.5367C= (p.Asp1789=) c.5313C= (p.Asp1771=) c.5205C= (p.Asp1735=) c.5268C= (p.Asp1756=) c.5238C= (p.Asp1746=) c.5310C= (p.Asp1770=) | |
| 3 | g.38551005G>T | CA352141272 | SCN5A | c.5364C>A (p.Asp1788Glu) c.5367C>A (p.Asp1789Glu) c.5313C>A (p.Asp1771Glu) c.5205C>A (p.Asp1735Glu) c.5268C>A (p.Asp1756Glu) c.5238C>A (p.Asp1746Glu) c.5310C>A (p.Asp1770Glu) | |
| 3 | g.38551006T>A | CA352141274 | SCN5A | c.5363A>T (p.Asp1788Val) c.5366A>T (p.Asp1789Val) c.5312A>T (p.Asp1771Val) c.5204A>T (p.Asp1735Val) c.5267A>T (p.Asp1756Val) c.5237A>T (p.Asp1746Val) c.5309A>T (p.Asp1770Val) | |
| 3 | g.38551006T>C | CA352141275 | SCN5A | c.5363A>G (p.Asp1788Gly) c.5366A>G (p.Asp1789Gly) c.5312A>G (p.Asp1771Gly) c.5204A>G (p.Asp1735Gly) c.5267A>G (p.Asp1756Gly) c.5237A>G (p.Asp1746Gly) c.5309A>G (p.Asp1770Gly) | |
| 3 | g.38551006T>G | CA352141276 | SCN5A | c.5363A>C (p.Asp1788Ala) c.5366A>C (p.Asp1789Ala) c.5312A>C (p.Asp1771Ala) c.5204A>C (p.Asp1735Ala) c.5267A>C (p.Asp1756Ala) c.5237A>C (p.Asp1746Ala) c.5309A>C (p.Asp1770Ala) | |
| 3 | g.38551007C>A | CA352141277 | SCN5A | c.5362G>T (p.Asp1788Tyr) c.5365G>T (p.Asp1789Tyr) c.5311G>T (p.Asp1771Tyr) c.5203G>T (p.Asp1735Tyr) c.5266G>T (p.Asp1756Tyr) c.5236G>T (p.Asp1746Tyr) c.5308G>T (p.Asp1770Tyr) | COSMIC COSMIC COSMIC |
| 3 | g.38551007C>G | CA352141278 | SCN5A | c.5362G>C (p.Asp1788His) c.5365G>C (p.Asp1789His) c.5311G>C (p.Asp1771His) c.5203G>C (p.Asp1735His) c.5266G>C (p.Asp1756His) c.5236G>C (p.Asp1746His) c.5308G>C (p.Asp1770His) | |
| 3 | g.38551007C>T | CA352141279 | SCN5A | c.5362G>A (p.Asp1788Asn) c.5365G>A (p.Asp1789Asn) c.5311G>A (p.Asp1771Asn) c.5203G>A (p.Asp1735Asn) c.5266G>A (p.Asp1756Asn) c.5236G>A (p.Asp1746Asn) c.5308G>A (p.Asp1770Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38551007_38551011delinsCCTCA | CA1358557150 | SCN5A | c.5358_5362delinsTGAGG (p.Ser1786=) c.5361_5365delinsTGAGG (p.Ser1787=) c.5307_5311delinsTGAGG (p.Ser1769=) c.5199_5203delinsTGAGG (p.Ser1733=) c.5262_5266delinsTGAGG (p.Ser1754=) c.5232_5236delinsTGAGG (p.Ser1744=) c.5304_5308delinsTGAGG (p.Ser1768=) | |
| 3 | g.38551008C>A | CA352141281 | SCN5A | c.5361G>T (p.Glu1787Asp) c.5364G>T (p.Glu1788Asp) c.5310G>T (p.Glu1770Asp) c.5202G>T (p.Glu1734Asp) c.5265G>T (p.Glu1755Asp) c.5235G>T (p.Glu1745Asp) c.5307G>T (p.Glu1769Asp) | |
| 3 | g.38551008C= | CA1358557156 | SCN5A | c.5361G= (p.Glu1787=) c.5364G= (p.Glu1788=) c.5310G= (p.Glu1770=) c.5202G= (p.Glu1734=) c.5265G= (p.Glu1755=) c.5235G= (p.Glu1745=) c.5307G= (p.Glu1769=) | |
| 3 | g.38551008C>G | CA352141283 | SCN5A | c.5361G>C (p.Glu1787Asp) c.5364G>C (p.Glu1788Asp) c.5310G>C (p.Glu1770Asp) c.5202G>C (p.Glu1734Asp) c.5265G>C (p.Glu1755Asp) c.5235G>C (p.Glu1745Asp) c.5307G>C (p.Glu1769Asp) | |
| 3 | g.38551008C>T | CA433331855 | SCN5A | c.5361G>A (p.Glu1787=) c.5364G>A (p.Glu1788=) c.5310G>A (p.Glu1770=) c.5202G>A (p.Glu1734=) c.5265G>A (p.Glu1755=) c.5235G>A (p.Glu1745=) c.5307G>A (p.Glu1769=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551012_38551015del | CA891843409 | SCN5A | c.5358_5361del (p.Ser1786ArgfsTer?) c.5361_5364del (p.Ser1787ArgfsTer?) c.5307_5310del (p.Ser1769ArgfsTer?) c.5199_5202del (p.Ser1733ArgfsTer?) c.5262_5265del (p.Ser1754ArgfsTer?) c.5232_5235del (p.Ser1744ArgfsTer?) c.5304_5307del (p.Ser1768ArgfsTer?) | ClinVar dbSNP |
| 3 | g.38551009T>A | CA352141285 | SCN5A | c.5360A>T (p.Glu1787Val) c.5363A>T (p.Glu1788Val) c.5309A>T (p.Glu1770Val) c.5201A>T (p.Glu1734Val) c.5264A>T (p.Glu1755Val) c.5234A>T (p.Glu1745Val) c.5306A>T (p.Glu1769Val) | |
| 3 | g.38551009T>C | CA352141287 | SCN5A | c.5360A>G (p.Glu1787Gly) c.5363A>G (p.Glu1788Gly) c.5309A>G (p.Glu1770Gly) c.5201A>G (p.Glu1734Gly) c.5264A>G (p.Glu1755Gly) c.5234A>G (p.Glu1745Gly) c.5306A>G (p.Glu1769Gly) | |
| 3 | g.38551009T>G | CA352141289 | SCN5A | c.5360A>C (p.Glu1787Ala) c.5363A>C (p.Glu1788Ala) c.5309A>C (p.Glu1770Ala) c.5201A>C (p.Glu1734Ala) c.5264A>C (p.Glu1755Ala) c.5234A>C (p.Glu1745Ala) c.5306A>C (p.Glu1769Ala) | |
| 3 | g.38551010C>A | CA352141291 | SCN5A | c.5359G>T (p.Glu1787Ter) c.5362G>T (p.Glu1788Ter) c.5308G>T (p.Glu1770Ter) c.5200G>T (p.Glu1734Ter) c.5263G>T (p.Glu1755Ter) c.5233G>T (p.Glu1745Ter) c.5305G>T (p.Glu1769Ter) | dbSNP |
| 3 | g.38551010C= | CA1358557161 | SCN5A | c.5359G= (p.Glu1787=) c.5362G= (p.Glu1788=) c.5308G= (p.Glu1770=) c.5200G= (p.Glu1734=) c.5263G= (p.Glu1755=) c.5233G= (p.Glu1745=) c.5305G= (p.Glu1769=) | |
| 3 | g.38551010C>G | CA352141293 | SCN5A | c.5359G>C (p.Glu1787Gln) c.5362G>C (p.Glu1788Gln) c.5308G>C (p.Glu1770Gln) c.5200G>C (p.Glu1734Gln) c.5263G>C (p.Glu1755Gln) c.5233G>C (p.Glu1745Gln) c.5305G>C (p.Glu1769Gln) | |
| 3 | g.38551010C>T | CA352141295 | SCN5A | c.5359G>A (p.Glu1787Lys) c.5362G>A (p.Glu1788Lys) c.5308G>A (p.Glu1770Lys) c.5200G>A (p.Glu1734Lys) c.5263G>A (p.Glu1755Lys) c.5233G>A (p.Glu1745Lys) c.5305G>A (p.Glu1769Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551011A>C | CA352141298 | SCN5A | c.5358T>G (p.Ser1786Arg) c.5361T>G (p.Ser1787Arg) c.5307T>G (p.Ser1769Arg) c.5199T>G (p.Ser1733Arg) c.5262T>G (p.Ser1754Arg) c.5232T>G (p.Ser1744Arg) c.5304T>G (p.Ser1768Arg) | |
| 3 | g.38551011A>G | CA433331860 | SCN5A | c.5358T>C (p.Ser1786=) c.5361T>C (p.Ser1787=) c.5307T>C (p.Ser1769=) c.5199T>C (p.Ser1733=) c.5262T>C (p.Ser1754=) c.5232T>C (p.Ser1744=) c.5304T>C (p.Ser1768=) | |
| 3 | g.38551011A>T | CA352141299 | SCN5A | c.5358T>A (p.Ser1786Arg) c.5361T>A (p.Ser1787Arg) c.5307T>A (p.Ser1769Arg) c.5199T>A (p.Ser1733Arg) c.5262T>A (p.Ser1754Arg) c.5232T>A (p.Ser1744Arg) c.5304T>A (p.Ser1768Arg) | |
| 3 | g.38551012C>A | CA352141302 | SCN5A | c.5357G>T (p.Ser1786Ile) c.5360G>T (p.Ser1787Ile) c.5306G>T (p.Ser1769Ile) c.5198G>T (p.Ser1733Ile) c.5261G>T (p.Ser1754Ile) c.5231G>T (p.Ser1744Ile) c.5303G>T (p.Ser1768Ile) | |
| 3 | g.38551012C= | CA1358557165 | SCN5A | c.5357G= (p.Ser1786=) c.5360G= (p.Ser1787=) c.5306G= (p.Ser1769=) c.5198G= (p.Ser1733=) c.5261G= (p.Ser1754=) c.5231G= (p.Ser1744=) c.5303G= (p.Ser1768=) | |
| 3 | g.38551012C>G | CA019163 | SCN5A | c.5357G>C (p.Ser1786Thr) c.5360G>C (p.Ser1787Thr) c.5306G>C (p.Ser1769Thr) c.5198G>C (p.Ser1733Thr) c.5261G>C (p.Ser1754Thr) c.5231G>C (p.Ser1744Thr) c.5303G>C (p.Ser1768Thr) | ClinVar dbSNP |
| 3 | g.38551012C>T | CA019158 | SCN5A | c.5357G>A (p.Ser1786Asn) c.5360G>A (p.Ser1787Asn) c.5306G>A (p.Ser1769Asn) c.5198G>A (p.Ser1733Asn) c.5261G>A (p.Ser1754Asn) c.5231G>A (p.Ser1744Asn) c.5303G>A (p.Ser1768Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551013T>A | CA352141307 | SCN5A | c.5356A>T (p.Ser1786Cys) c.5359A>T (p.Ser1787Cys) c.5305A>T (p.Ser1769Cys) c.5197A>T (p.Ser1733Cys) c.5260A>T (p.Ser1754Cys) c.5230A>T (p.Ser1744Cys) c.5302A>T (p.Ser1768Cys) | gnomAD v4 |
| 3 | g.38551013T>C | CA352141309 | SCN5A | c.5356A>G (p.Ser1786Gly) c.5359A>G (p.Ser1787Gly) c.5305A>G (p.Ser1769Gly) c.5197A>G (p.Ser1733Gly) c.5260A>G (p.Ser1754Gly) c.5230A>G (p.Ser1744Gly) c.5302A>G (p.Ser1768Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551013T>G | CA352141310 | SCN5A | c.5356A>C (p.Ser1786Arg) c.5359A>C (p.Ser1787Arg) c.5305A>C (p.Ser1769Arg) c.5197A>C (p.Ser1733Arg) c.5260A>C (p.Ser1754Arg) c.5230A>C (p.Ser1744Arg) c.5302A>C (p.Ser1768Arg) | |
| 3 | g.38551013T= | CA1358557171 | SCN5A | c.5356A= (p.Ser1786=) c.5359A= (p.Ser1787=) c.5305A= (p.Ser1769=) c.5197A= (p.Ser1733=) c.5260A= (p.Ser1754=) c.5230A= (p.Ser1744=) c.5302A= (p.Ser1768=) | |
| 3 | g.38551014C>A | CA433331885 | SCN5A | c.5355G>T (p.Leu1785=) c.5358G>T (p.Leu1786=) c.5304G>T (p.Leu1768=) c.5196G>T (p.Leu1732=) c.5259G>T (p.Leu1753=) c.5229G>T (p.Leu1743=) c.5301G>T (p.Leu1767=) | |
| 3 | g.38551014C= | CA1358557172 | SCN5A | c.5355G= (p.Leu1785=) c.5358G= (p.Leu1786=) c.5304G= (p.Leu1768=) c.5196G= (p.Leu1732=) c.5259G= (p.Leu1753=) c.5229G= (p.Leu1743=) c.5301G= (p.Leu1767=) | |
| 3 | g.38551014C>G | CA433331889 | SCN5A | c.5355G>C (p.Leu1785=) c.5358G>C (p.Leu1786=) c.5304G>C (p.Leu1768=) c.5196G>C (p.Leu1732=) c.5259G>C (p.Leu1753=) c.5229G>C (p.Leu1743=) c.5301G>C (p.Leu1767=) | gnomAD v4 |
| 3 | g.38551014C>T | CA433331890 | SCN5A | c.5355G>A (p.Leu1785=) c.5358G>A (p.Leu1786=) c.5304G>A (p.Leu1768=) c.5196G>A (p.Leu1732=) c.5259G>A (p.Leu1753=) c.5229G>A (p.Leu1743=) c.5301G>A (p.Leu1767=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551014_38551016delinsCAG | CA1358557173 | SCN5A | c.5353_5355delinsCTG (p.Leu1785=) c.5356_5358delinsCTG (p.Leu1786=) c.5302_5304delinsCTG (p.Leu1768=) c.5194_5196delinsCTG (p.Leu1732=) c.5257_5259delinsCTG (p.Leu1753=) c.5227_5229delinsCTG (p.Leu1743=) c.5299_5301delinsCTG (p.Leu1767=) | |
| 3 | g.38551015A= | CA1358557177 | SCN5A | c.5354T= (p.Leu1785=) c.5357T= (p.Leu1786=) c.5303T= (p.Leu1768=) c.5195T= (p.Leu1732=) c.5258T= (p.Leu1753=) c.5228T= (p.Leu1743=) c.5300T= (p.Leu1767=) | |
| 3 | g.38551015A>C | CA352141313 | SCN5A | c.5354T>G (p.Leu1785Arg) c.5357T>G (p.Leu1786Arg) c.5303T>G (p.Leu1768Arg) c.5195T>G (p.Leu1732Arg) c.5258T>G (p.Leu1753Arg) c.5228T>G (p.Leu1743Arg) c.5300T>G (p.Leu1767Arg) | |
| 3 | g.38551015A>G | CA352141314 | SCN5A | c.5354T>C (p.Leu1785Pro) c.5357T>C (p.Leu1786Pro) c.5303T>C (p.Leu1768Pro) c.5195T>C (p.Leu1732Pro) c.5258T>C (p.Leu1753Pro) c.5228T>C (p.Leu1743Pro) c.5300T>C (p.Leu1767Pro) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38551015A>T | CA019153 | SCN5A | c.5354T>A (p.Leu1785Gln) c.5357T>A (p.Leu1786Gln) c.5303T>A (p.Leu1768Gln) c.5195T>A (p.Leu1732Gln) c.5258T>A (p.Leu1753Gln) c.5228T>A (p.Leu1743Gln) c.5300T>A (p.Leu1767Gln) | ClinVar dbSNP |
| 3 | g.38551015_38551016del | CA10586350 | SCN5A | c.5353_5354del (p.Leu1785GlufsTer2) c.5356_5357del (p.Leu1786GlufsTer2) c.5302_5303del (p.Leu1768GlufsTer2) c.5194_5195del (p.Leu1732GlufsTer2) c.5257_5258del (p.Leu1753GlufsTer2) c.5227_5228del (p.Leu1743GlufsTer2) c.5299_5300del (p.Leu1767GlufsTer2) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551016G>A | CA433331891 | SCN5A | c.5353C>T (p.Leu1785=) c.5356C>T (p.Leu1786=) c.5302C>T (p.Leu1768=) c.5194C>T (p.Leu1732=) c.5257C>T (p.Leu1753=) c.5227C>T (p.Leu1743=) c.5299C>T (p.Leu1767=) | gnomAD v4 |
| 3 | g.38551016G>C | CA352141319 | SCN5A | c.5353C>G (p.Leu1785Val) c.5356C>G (p.Leu1786Val) c.5302C>G (p.Leu1768Val) c.5194C>G (p.Leu1732Val) c.5257C>G (p.Leu1753Val) c.5227C>G (p.Leu1743Val) c.5299C>G (p.Leu1767Val) | |
| 3 | g.38551016G>T | CA352141322 | SCN5A | c.5353C>A (p.Leu1785Met) c.5356C>A (p.Leu1786Met) c.5302C>A (p.Leu1768Met) c.5194C>A (p.Leu1732Met) c.5257C>A (p.Leu1753Met) c.5227C>A (p.Leu1743Met) c.5299C>A (p.Leu1767Met) | |
| 3 | g.38551017G>A | CA433331893 | SCN5A | c.5352C>T (p.Pro1784=) c.5355C>T (p.Pro1785=) c.5301C>T (p.Pro1767=) c.5193C>T (p.Pro1731=) c.5256C>T (p.Pro1752=) c.5226C>T (p.Pro1742=) c.5298C>T (p.Pro1766=) | |
| 3 | g.38551017G>C | CA433331895 | SCN5A | c.5352C>G (p.Pro1784=) c.5355C>G (p.Pro1785=) c.5301C>G (p.Pro1767=) c.5193C>G (p.Pro1731=) c.5256C>G (p.Pro1752=) c.5226C>G (p.Pro1742=) c.5298C>G (p.Pro1766=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551017G>T | CA433331896 | SCN5A | c.5352C>A (p.Pro1784=) c.5355C>A (p.Pro1785=) c.5301C>A (p.Pro1767=) c.5193C>A (p.Pro1731=) c.5256C>A (p.Pro1752=) c.5226C>A (p.Pro1742=) c.5298C>A (p.Pro1766=) | |
| 3 | g.38551018G>A | CA352141325 | SCN5A | c.5351C>T (p.Pro1784Leu) c.5354C>T (p.Pro1785Leu) c.5300C>T (p.Pro1767Leu) c.5192C>T (p.Pro1731Leu) c.5255C>T (p.Pro1752Leu) c.5225C>T (p.Pro1742Leu) c.5297C>T (p.Pro1766Leu) | ClinVar dbSNP |
| 3 | g.38551018G>C | CA352141329 | SCN5A | c.5351C>G (p.Pro1784Arg) c.5354C>G (p.Pro1785Arg) c.5300C>G (p.Pro1767Arg) c.5192C>G (p.Pro1731Arg) c.5255C>G (p.Pro1752Arg) c.5225C>G (p.Pro1742Arg) c.5297C>G (p.Pro1766Arg) | |
| 3 | g.38551018G= | CA1358557185 | SCN5A | c.5351C= (p.Pro1784=) c.5354C= (p.Pro1785=) c.5300C= (p.Pro1767=) c.5192C= (p.Pro1731=) c.5255C= (p.Pro1752=) c.5225C= (p.Pro1742=) c.5297C= (p.Pro1766=) | |
| 3 | g.38551018G>T | CA72937952 | SCN5A | c.5351C>A (p.Pro1784His) c.5354C>A (p.Pro1785His) c.5300C>A (p.Pro1767His) c.5192C>A (p.Pro1731His) c.5255C>A (p.Pro1752His) c.5225C>A (p.Pro1742His) c.5297C>A (p.Pro1766His) | dbSNP |
| 3 | g.38551019G>A | CA352141331 | SCN5A | c.5350C>T (p.Pro1784Ser) c.5353C>T (p.Pro1785Ser) c.5299C>T (p.Pro1767Ser) c.5191C>T (p.Pro1731Ser) c.5254C>T (p.Pro1752Ser) c.5224C>T (p.Pro1742Ser) c.5296C>T (p.Pro1766Ser) | |
| 3 | g.38551019G>C | CA352141333 | SCN5A | c.5350C>G (p.Pro1784Ala) c.5353C>G (p.Pro1785Ala) c.5299C>G (p.Pro1767Ala) c.5191C>G (p.Pro1731Ala) c.5254C>G (p.Pro1752Ala) c.5224C>G (p.Pro1742Ala) c.5296C>G (p.Pro1766Ala) | |
| 3 | g.38551019G>T | CA352141335 | SCN5A | c.5350C>A (p.Pro1784Thr) c.5353C>A (p.Pro1785Thr) c.5299C>A (p.Pro1767Thr) c.5191C>A (p.Pro1731Thr) c.5254C>A (p.Pro1752Thr) c.5224C>A (p.Pro1742Thr) c.5296C>A (p.Pro1766Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551020del | CA2825000825 | SCN5A | c.5349del (p.Glu1783AspfsTer3) c.5352del (p.Glu1784AspfsTer3) c.5298del (p.Glu1766AspfsTer3) c.5190del (p.Glu1730AspfsTer3) c.5253del (p.Glu1751AspfsTer3) c.5223del (p.Glu1741AspfsTer3) c.5295del (p.Glu1765AspfsTer3) | |
| 3 | g.38551020C>A | CA352141338 | SCN5A | c.5349G>T (p.Glu1783Asp) c.5352G>T (p.Glu1784Asp) c.5298G>T (p.Glu1766Asp) c.5190G>T (p.Glu1730Asp) c.5253G>T (p.Glu1751Asp) c.5223G>T (p.Glu1741Asp) c.5295G>T (p.Glu1765Asp) | ClinVar dbSNP |
| 3 | g.38551020C= | CA1358557190 | SCN5A | c.5349G= (p.Glu1783=) c.5352G= (p.Glu1784=) c.5298G= (p.Glu1766=) c.5190G= (p.Glu1730=) c.5253G= (p.Glu1751=) c.5223G= (p.Glu1741=) c.5295G= (p.Glu1765=) | |
| 3 | g.38551020C>G | CA352141339 | SCN5A | c.5349G>C (p.Glu1783Asp) c.5352G>C (p.Glu1784Asp) c.5298G>C (p.Glu1766Asp) c.5190G>C (p.Glu1730Asp) c.5253G>C (p.Glu1751Asp) c.5223G>C (p.Glu1741Asp) c.5295G>C (p.Glu1765Asp) | |
| 3 | g.38551020C>T | CA433331907 | SCN5A | c.5349G>A (p.Glu1783=) c.5352G>A (p.Glu1784=) c.5298G>A (p.Glu1766=) c.5190G>A (p.Glu1730=) c.5253G>A (p.Glu1751=) c.5223G>A (p.Glu1741=) c.5295G>A (p.Glu1765=) | dbSNP gnomAD v4 |
| 3 | g.38551021T>A | CA352141343 | SCN5A | c.5348A>T (p.Glu1783Val) c.5351A>T (p.Glu1784Val) c.5297A>T (p.Glu1766Val) c.5189A>T (p.Glu1730Val) c.5252A>T (p.Glu1751Val) c.5222A>T (p.Glu1741Val) c.5294A>T (p.Glu1765Val) | gnomAD v4 |
| 3 | g.38551021T>C | CA352141345 | SCN5A | c.5348A>G (p.Glu1783Gly) c.5351A>G (p.Glu1784Gly) c.5297A>G (p.Glu1766Gly) c.5189A>G (p.Glu1730Gly) c.5252A>G (p.Glu1751Gly) c.5222A>G (p.Glu1741Gly) c.5294A>G (p.Glu1765Gly) | |
| 3 | g.38551021T>G | CA352141347 | SCN5A | c.5348A>C (p.Glu1783Ala) c.5351A>C (p.Glu1784Ala) c.5297A>C (p.Glu1766Ala) c.5189A>C (p.Glu1730Ala) c.5252A>C (p.Glu1751Ala) c.5222A>C (p.Glu1741Ala) c.5294A>C (p.Glu1765Ala) | |
| 3 | g.38551022C>A | CA352141349 | SCN5A | c.5347G>T (p.Glu1783Ter) c.5350G>T (p.Glu1784Ter) c.5296G>T (p.Glu1766Ter) c.5188G>T (p.Glu1730Ter) c.5251G>T (p.Glu1751Ter) c.5221G>T (p.Glu1741Ter) c.5293G>T (p.Glu1765Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551022C= | CA1358557197 | SCN5A | c.5347G= (p.Glu1783=) c.5350G= (p.Glu1784=) c.5296G= (p.Glu1766=) c.5188G= (p.Glu1730=) c.5251G= (p.Glu1751=) c.5221G= (p.Glu1741=) c.5293G= (p.Glu1765=) | |
| 3 | g.38551022C>G | CA352141351 | SCN5A | c.5347G>C (p.Glu1783Gln) c.5350G>C (p.Glu1784Gln) c.5296G>C (p.Glu1766Gln) c.5188G>C (p.Glu1730Gln) c.5251G>C (p.Glu1751Gln) c.5221G>C (p.Glu1741Gln) c.5293G>C (p.Glu1765Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551022C>T | CA019148 | SCN5A | c.5347G>A (p.Glu1783Lys) c.5350G>A (p.Glu1784Lys) c.5296G>A (p.Glu1766Lys) c.5188G>A (p.Glu1730Lys) c.5251G>A (p.Glu1751Lys) c.5221G>A (p.Glu1741Lys) c.5293G>A (p.Glu1765Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551023G>A | CA72937955 | SCN5A | c.5346C>T (p.Thr1782=) c.5349C>T (p.Thr1783=) c.5295C>T (p.Thr1765=) c.5187C>T (p.Thr1729=) c.5250C>T (p.Thr1750=) c.5220C>T (p.Thr1740=) c.5292C>T (p.Thr1764=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551023G>C | CA433331909 | SCN5A | c.5346C>G (p.Thr1782=) c.5349C>G (p.Thr1783=) c.5295C>G (p.Thr1765=) c.5187C>G (p.Thr1729=) c.5250C>G (p.Thr1750=) c.5220C>G (p.Thr1740=) c.5292C>G (p.Thr1764=) | |
| 3 | g.38551023G= | CA1358557202 | SCN5A | c.5346C= (p.Thr1782=) c.5349C= (p.Thr1783=) c.5295C= (p.Thr1765=) c.5187C= (p.Thr1729=) c.5250C= (p.Thr1750=) c.5220C= (p.Thr1740=) c.5292C= (p.Thr1764=) | |
| 3 | g.38551023G>T | CA433331911 | SCN5A | c.5346C>A (p.Thr1782=) c.5349C>A (p.Thr1783=) c.5295C>A (p.Thr1765=) c.5187C>A (p.Thr1729=) c.5250C>A (p.Thr1750=) c.5220C>A (p.Thr1740=) c.5292C>A (p.Thr1764=) | |
| 3 | g.38551024G>A | CA352141360 | SCN5A | c.5345C>T (p.Thr1782Ile) c.5348C>T (p.Thr1783Ile) c.5294C>T (p.Thr1765Ile) c.5186C>T (p.Thr1729Ile) c.5249C>T (p.Thr1750Ile) c.5219C>T (p.Thr1740Ile) c.5291C>T (p.Thr1764Ile) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551024G>C | CA019145 | SCN5A | c.5345C>G (p.Thr1782Ser) c.5348C>G (p.Thr1783Ser) c.5294C>G (p.Thr1765Ser) c.5186C>G (p.Thr1729Ser) c.5249C>G (p.Thr1750Ser) c.5219C>G (p.Thr1740Ser) c.5291C>G (p.Thr1764Ser) | ClinVar dbSNP |
| 3 | g.38551024G= | CA1358557210 | SCN5A | c.5345C= (p.Thr1782=) c.5348C= (p.Thr1783=) c.5294C= (p.Thr1765=) c.5186C= (p.Thr1729=) c.5249C= (p.Thr1750=) c.5219C= (p.Thr1740=) c.5291C= (p.Thr1764=) | |
| 3 | g.38551024G>T | CA352141359 | SCN5A | c.5345C>A (p.Thr1782Asn) c.5348C>A (p.Thr1783Asn) c.5294C>A (p.Thr1765Asn) c.5186C>A (p.Thr1729Asn) c.5249C>A (p.Thr1750Asn) c.5219C>A (p.Thr1740Asn) c.5291C>A (p.Thr1764Asn) | |
| 3 | g.38551025T>A | CA352141363 | SCN5A | c.5344A>T (p.Thr1782Ser) c.5347A>T (p.Thr1783Ser) c.5293A>T (p.Thr1765Ser) c.5185A>T (p.Thr1729Ser) c.5248A>T (p.Thr1750Ser) c.5218A>T (p.Thr1740Ser) c.5290A>T (p.Thr1764Ser) | |
| 3 | g.38551025T>C | CA352141365 | SCN5A | c.5344A>G (p.Thr1782Ala) c.5347A>G (p.Thr1783Ala) c.5293A>G (p.Thr1765Ala) c.5185A>G (p.Thr1729Ala) c.5248A>G (p.Thr1750Ala) c.5218A>G (p.Thr1740Ala) c.5290A>G (p.Thr1764Ala) | |
| 3 | g.38551025T>G | CA352141367 | SCN5A | c.5344A>C (p.Thr1782Pro) c.5347A>C (p.Thr1783Pro) c.5293A>C (p.Thr1765Pro) c.5185A>C (p.Thr1729Pro) c.5248A>C (p.Thr1750Pro) c.5218A>C (p.Thr1740Pro) c.5290A>C (p.Thr1764Pro) | |
| 3 | g.38551026G>A | CA433331927 | SCN5A | c.5343C>T (p.Ser1781=) c.5346C>T (p.Ser1782=) c.5292C>T (p.Ser1764=) c.5184C>T (p.Ser1728=) c.5247C>T (p.Ser1749=) c.5217C>T (p.Ser1739=) c.5289C>T (p.Ser1763=) | |
| 3 | g.38551026G>C | CA352141370 | SCN5A | c.5343C>G (p.Ser1781Arg) c.5346C>G (p.Ser1782Arg) c.5292C>G (p.Ser1764Arg) c.5184C>G (p.Ser1728Arg) c.5247C>G (p.Ser1749Arg) c.5217C>G (p.Ser1739Arg) c.5289C>G (p.Ser1763Arg) | |
| 3 | g.38551026G>T | CA352141372 | SCN5A | c.5343C>A (p.Ser1781Arg) c.5346C>A (p.Ser1782Arg) c.5292C>A (p.Ser1764Arg) c.5184C>A (p.Ser1728Arg) c.5247C>A (p.Ser1749Arg) c.5217C>A (p.Ser1739Arg) c.5289C>A (p.Ser1763Arg) | |
| 3 | g.38551027C>A | CA352141373 | SCN5A | c.5342G>T (p.Ser1781Ile) c.5345G>T (p.Ser1782Ile) c.5291G>T (p.Ser1764Ile) c.5183G>T (p.Ser1728Ile) c.5246G>T (p.Ser1749Ile) c.5216G>T (p.Ser1739Ile) c.5288G>T (p.Ser1763Ile) | |
| 3 | g.38551027C>G | CA352141374 | SCN5A | c.5342G>C (p.Ser1781Thr) c.5345G>C (p.Ser1782Thr) c.5291G>C (p.Ser1764Thr) c.5183G>C (p.Ser1728Thr) c.5246G>C (p.Ser1749Thr) c.5216G>C (p.Ser1739Thr) c.5288G>C (p.Ser1763Thr) | gnomAD v4 |
| 3 | g.38551027C>T | CA352141375 | SCN5A | c.5342G>A (p.Ser1781Asn) c.5345G>A (p.Ser1782Asn) c.5291G>A (p.Ser1764Asn) c.5183G>A (p.Ser1728Asn) c.5246G>A (p.Ser1749Asn) c.5216G>A (p.Ser1739Asn) c.5288G>A (p.Ser1763Asn) | |
| 3 | g.38551030_38551031del | CA2580614200 | SCN5A | c.5341_5342del (p.Ser1781HisfsTer6) c.5344_5345del (p.Ser1782HisfsTer6) c.5290_5291del (p.Ser1764HisfsTer6) c.5182_5183del (p.Ser1728HisfsTer6) c.5245_5246del (p.Ser1749HisfsTer6) c.5215_5216del (p.Ser1739HisfsTer6) c.5287_5288del (p.Ser1763HisfsTer6) | ClinVar gnomAD v4 |
| 3 | g.38551028T>A | CA352141377 | SCN5A | c.5341A>T (p.Ser1781Cys) c.5344A>T (p.Ser1782Cys) c.5290A>T (p.Ser1764Cys) c.5182A>T (p.Ser1728Cys) c.5245A>T (p.Ser1749Cys) c.5215A>T (p.Ser1739Cys) c.5287A>T (p.Ser1763Cys) | |
| 3 | g.38551028T>C | CA352141379 | SCN5A | c.5341A>G (p.Ser1781Gly) c.5344A>G (p.Ser1782Gly) c.5290A>G (p.Ser1764Gly) c.5182A>G (p.Ser1728Gly) c.5245A>G (p.Ser1749Gly) c.5215A>G (p.Ser1739Gly) c.5287A>G (p.Ser1763Gly) | |
| 3 | g.38551028T>G | CA352141381 | SCN5A | c.5341A>C (p.Ser1781Arg) c.5344A>C (p.Ser1782Arg) c.5290A>C (p.Ser1764Arg) c.5182A>C (p.Ser1728Arg) c.5245A>C (p.Ser1749Arg) c.5215A>C (p.Ser1739Arg) c.5287A>C (p.Ser1763Arg) | |
| 3 | g.38551029C>A | CA352141385 | SCN5A | c.5340G>T (p.Glu1780Asp) c.5343G>T (p.Glu1781Asp) c.5289G>T (p.Glu1763Asp) c.5181G>T (p.Glu1727Asp) c.5244G>T (p.Glu1748Asp) c.5214G>T (p.Glu1738Asp) c.5286G>T (p.Glu1762Asp) | |
| 3 | g.38551029C= | CA1358557219 | SCN5A | c.5340G= (p.Glu1780=) c.5343G= (p.Glu1781=) c.5289G= (p.Glu1763=) c.5181G= (p.Glu1727=) c.5244G= (p.Glu1748=) c.5214G= (p.Glu1738=) c.5286G= (p.Glu1762=) | |
| 3 | g.38551029C>G | CA352141387 | SCN5A | c.5340G>C (p.Glu1780Asp) c.5343G>C (p.Glu1781Asp) c.5289G>C (p.Glu1763Asp) c.5181G>C (p.Glu1727Asp) c.5244G>C (p.Glu1748Asp) c.5214G>C (p.Glu1738Asp) c.5286G>C (p.Glu1762Asp) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551029C>T | CA064339 | SCN5A | c.5340G>A (p.Glu1780=) c.5343G>A (p.Glu1781=) c.5289G>A (p.Glu1763=) c.5181G>A (p.Glu1727=) c.5244G>A (p.Glu1748=) c.5214G>A (p.Glu1738=) c.5286G>A (p.Glu1762=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>A | CA352141390 | SCN5A | c.5339A>T (p.Glu1780Val) c.5342A>T (p.Glu1781Val) c.5288A>T (p.Glu1763Val) c.5180A>T (p.Glu1727Val) c.5243A>T (p.Glu1748Val) c.5213A>T (p.Glu1738Val) c.5285A>T (p.Glu1762Val) | |
| 3 | g.38551030T>C | CA352141392 | SCN5A | c.5339A>G (p.Glu1780Gly) c.5342A>G (p.Glu1781Gly) c.5288A>G (p.Glu1763Gly) c.5180A>G (p.Glu1727Gly) c.5243A>G (p.Glu1748Gly) c.5213A>G (p.Glu1738Gly) c.5285A>G (p.Glu1762Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551030T>G | CA352141394 | SCN5A | c.5339A>C (p.Glu1780Ala) c.5342A>C (p.Glu1781Ala) c.5288A>C (p.Glu1763Ala) c.5180A>C (p.Glu1727Ala) c.5243A>C (p.Glu1748Ala) c.5213A>C (p.Glu1738Ala) c.5285A>C (p.Glu1762Ala) | |
| 3 | g.38551030T= | CA1358557227 | SCN5A | c.5339A= (p.Glu1780=) c.5342A= (p.Glu1781=) c.5288A= (p.Glu1763=) c.5180A= (p.Glu1727=) c.5243A= (p.Glu1748=) c.5213A= (p.Glu1738=) c.5285A= (p.Glu1762=) | |
| 3 | g.38551031C>A | CA352141398 | SCN5A | c.5338G>T (p.Glu1780Ter) c.5341G>T (p.Glu1781Ter) c.5287G>T (p.Glu1763Ter) c.5179G>T (p.Glu1727Ter) c.5242G>T (p.Glu1748Ter) c.5212G>T (p.Glu1738Ter) c.5284G>T (p.Glu1762Ter) | dbSNP |
| 3 | g.38551031C= | CA1358557229 | SCN5A | c.5338G= (p.Glu1780=) c.5341G= (p.Glu1781=) c.5287G= (p.Glu1763=) c.5179G= (p.Glu1727=) c.5242G= (p.Glu1748=) c.5212G= (p.Glu1738=) c.5284G= (p.Glu1762=) | |
| 3 | g.38551031C>G | CA352141400 | SCN5A | c.5338G>C (p.Glu1780Gln) c.5341G>C (p.Glu1781Gln) c.5287G>C (p.Glu1763Gln) c.5179G>C (p.Glu1727Gln) c.5242G>C (p.Glu1748Gln) c.5212G>C (p.Glu1738Gln) c.5284G>C (p.Glu1762Gln) | |
| 3 | g.38551031C>T | CA352141401 | SCN5A | c.5338G>A (p.Glu1780Lys) c.5341G>A (p.Glu1781Lys) c.5287G>A (p.Glu1763Lys) c.5179G>A (p.Glu1727Lys) c.5242G>A (p.Glu1748Lys) c.5212G>A (p.Glu1738Lys) c.5284G>A (p.Glu1762Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551032C>A | CA352141404 | SCN5A | c.5337G>T (p.Glu1779Asp) c.5340G>T (p.Glu1780Asp) c.5286G>T (p.Glu1762Asp) c.5178G>T (p.Glu1726Asp) c.5241G>T (p.Glu1747Asp) c.5211G>T (p.Glu1737Asp) c.5283G>T (p.Glu1761Asp) | |
| 3 | g.38551032C>G | CA352141403 | SCN5A | c.5337G>C (p.Glu1779Asp) c.5340G>C (p.Glu1780Asp) c.5286G>C (p.Glu1762Asp) c.5178G>C (p.Glu1726Asp) c.5241G>C (p.Glu1747Asp) c.5211G>C (p.Glu1737Asp) c.5283G>C (p.Glu1761Asp) | |
| 3 | g.38551032C>T | CA433331944 | SCN5A | c.5337G>A (p.Glu1779=) c.5340G>A (p.Glu1780=) c.5286G>A (p.Glu1762=) c.5178G>A (p.Glu1726=) c.5241G>A (p.Glu1747=) c.5211G>A (p.Glu1737=) c.5283G>A (p.Glu1761=) | COSMIC COSMIC COSMIC |
| 3 | g.38551033T>A | CA352141407 | SCN5A | c.5336A>T (p.Glu1779Val) c.5339A>T (p.Glu1780Val) c.5285A>T (p.Glu1762Val) c.5177A>T (p.Glu1726Val) c.5240A>T (p.Glu1747Val) c.5210A>T (p.Glu1737Val) c.5282A>T (p.Glu1761Val) | |
| 3 | g.38551033T>C | CA352141409 | SCN5A | c.5336A>G (p.Glu1779Gly) c.5339A>G (p.Glu1780Gly) c.5285A>G (p.Glu1762Gly) c.5177A>G (p.Glu1726Gly) c.5240A>G (p.Glu1747Gly) c.5210A>G (p.Glu1737Gly) c.5282A>G (p.Glu1761Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551033T>G | CA352141410 | SCN5A | c.5336A>C (p.Glu1779Ala) c.5339A>C (p.Glu1780Ala) c.5285A>C (p.Glu1762Ala) c.5177A>C (p.Glu1726Ala) c.5240A>C (p.Glu1747Ala) c.5210A>C (p.Glu1737Ala) c.5282A>C (p.Glu1761Ala) | |
| 3 | g.38551033T= | CA1358557232 | SCN5A | c.5336A= (p.Glu1779=) c.5339A= (p.Glu1780=) c.5285A= (p.Glu1762=) c.5177A= (p.Glu1726=) c.5240A= (p.Glu1747=) c.5210A= (p.Glu1737=) c.5282A= (p.Glu1761=) | |
| 3 | g.38551034C>A | CA352141412 | SCN5A | c.5335G>T (p.Glu1779Ter) c.5338G>T (p.Glu1780Ter) c.5284G>T (p.Glu1762Ter) c.5176G>T (p.Glu1726Ter) c.5239G>T (p.Glu1747Ter) c.5209G>T (p.Glu1737Ter) c.5281G>T (p.Glu1761Ter) | dbSNP |
| 3 | g.38551034C= | CA1358557234 | SCN5A | c.5335G= (p.Glu1779=) c.5338G= (p.Glu1780=) c.5284G= (p.Glu1762=) c.5176G= (p.Glu1726=) c.5239G= (p.Glu1747=) c.5209G= (p.Glu1737=) c.5281G= (p.Glu1761=) | |
| 3 | g.38551034C>G | CA352141414 | SCN5A | c.5335G>C (p.Glu1779Gln) c.5338G>C (p.Glu1780Gln) c.5284G>C (p.Glu1762Gln) c.5176G>C (p.Glu1726Gln) c.5239G>C (p.Glu1747Gln) c.5209G>C (p.Glu1737Gln) c.5281G>C (p.Glu1761Gln) | |
| 3 | g.38551034C>T | CA352141416 | SCN5A | c.5335G>A (p.Glu1779Lys) c.5338G>A (p.Glu1780Lys) c.5284G>A (p.Glu1762Lys) c.5176G>A (p.Glu1726Lys) c.5239G>A (p.Glu1747Lys) c.5209G>A (p.Glu1737Lys) c.5281G>A (p.Glu1761Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38551035C>A | CA433331947 | SCN5A | c.5334G>T (p.Thr1778=) c.5337G>T (p.Thr1779=) c.5283G>T (p.Thr1761=) c.5175G>T (p.Thr1725=) c.5238G>T (p.Thr1746=) c.5208G>T (p.Thr1736=) c.5280G>T (p.Thr1760=) | |
| 3 | g.38551035C= | CA1358557236 | SCN5A | c.5334G= (p.Thr1778=) c.5337G= (p.Thr1779=) c.5283G= (p.Thr1761=) c.5175G= (p.Thr1725=) c.5238G= (p.Thr1746=) c.5208G= (p.Thr1736=) c.5280G= (p.Thr1760=) | |
| 3 | g.38551035C>G | CA433331949 | SCN5A | c.5334G>C (p.Thr1778=) c.5337G>C (p.Thr1779=) c.5283G>C (p.Thr1761=) c.5175G>C (p.Thr1725=) c.5238G>C (p.Thr1746=) c.5208G>C (p.Thr1736=) c.5280G>C (p.Thr1760=) | |
| 3 | g.38551035C>T | CA064333 | SCN5A | c.5334G>A (p.Thr1778=) c.5337G>A (p.Thr1779=) c.5283G>A (p.Thr1761=) c.5175G>A (p.Thr1725=) c.5238G>A (p.Thr1746=) c.5208G>A (p.Thr1736=) c.5280G>A (p.Thr1760=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551036G>A | CA019134 | SCN5A | c.5333C>T (p.Thr1778Met) c.5336C>T (p.Thr1779Met) c.5282C>T (p.Thr1761Met) c.5174C>T (p.Thr1725Met) c.5237C>T (p.Thr1746Met) c.5207C>T (p.Thr1736Met) c.5279C>T (p.Thr1760Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551036G>C | CA352141423 | SCN5A | c.5333C>G (p.Thr1778Arg) c.5336C>G (p.Thr1779Arg) c.5282C>G (p.Thr1761Arg) c.5174C>G (p.Thr1725Arg) c.5237C>G (p.Thr1746Arg) c.5207C>G (p.Thr1736Arg) c.5279C>G (p.Thr1760Arg) | |
| 3 | g.38551036G= | CA1358557243 | SCN5A | c.5333C= (p.Thr1778=) c.5336C= (p.Thr1779=) c.5282C= (p.Thr1761=) c.5174C= (p.Thr1725=) c.5237C= (p.Thr1746=) c.5207C= (p.Thr1736=) c.5279C= (p.Thr1760=) | |
| 3 | g.38551036G>T | CA352141421 | SCN5A | c.5333C>A (p.Thr1778Lys) c.5336C>A (p.Thr1779Lys) c.5282C>A (p.Thr1761Lys) c.5174C>A (p.Thr1725Lys) c.5237C>A (p.Thr1746Lys) c.5207C>A (p.Thr1736Lys) c.5279C>A (p.Thr1760Lys) | |
| 3 | g.38551037T>A | CA352141425 | SCN5A | c.5332A>T (p.Thr1778Ser) c.5335A>T (p.Thr1779Ser) c.5281A>T (p.Thr1761Ser) c.5173A>T (p.Thr1725Ser) c.5236A>T (p.Thr1746Ser) c.5206A>T (p.Thr1736Ser) c.5278A>T (p.Thr1760Ser) | |
| 3 | g.38551037T>C | CA352141427 | SCN5A | c.5332A>G (p.Thr1778Ala) c.5335A>G (p.Thr1779Ala) c.5281A>G (p.Thr1761Ala) c.5173A>G (p.Thr1725Ala) c.5236A>G (p.Thr1746Ala) c.5206A>G (p.Thr1736Ala) c.5278A>G (p.Thr1760Ala) | |
| 3 | g.38551037T>G | CA352141429 | SCN5A | c.5332A>C (p.Thr1778Pro) c.5335A>C (p.Thr1779Pro) c.5281A>C (p.Thr1761Pro) c.5173A>C (p.Thr1725Pro) c.5236A>C (p.Thr1746Pro) c.5206A>C (p.Thr1736Pro) c.5278A>C (p.Thr1760Pro) | |
| 3 | g.38551038G>A | CA433331957 | SCN5A | c.5331C>T (p.Ala1777=) c.5334C>T (p.Ala1778=) c.5280C>T (p.Ala1760=) c.5172C>T (p.Ala1724=) c.5235C>T (p.Ala1745=) c.5205C>T (p.Ala1735=) c.5277C>T (p.Ala1759=) | ClinVar |
| 3 | g.38551038G>C | CA433331960 | SCN5A | c.5331C>G (p.Ala1777=) c.5334C>G (p.Ala1778=) c.5280C>G (p.Ala1760=) c.5172C>G (p.Ala1724=) c.5235C>G (p.Ala1745=) c.5205C>G (p.Ala1735=) c.5277C>G (p.Ala1759=) | |
| 3 | g.38551038G>T | CA433331963 | SCN5A | c.5331C>A (p.Ala1777=) c.5334C>A (p.Ala1778=) c.5280C>A (p.Ala1760=) c.5172C>A (p.Ala1724=) c.5235C>A (p.Ala1745=) c.5205C>A (p.Ala1735=) c.5277C>A (p.Ala1759=) | |
| 3 | g.38551039G>A | CA352141432 | SCN5A | c.5330C>T (p.Ala1777Val) c.5333C>T (p.Ala1778Val) c.5279C>T (p.Ala1760Val) c.5171C>T (p.Ala1724Val) c.5234C>T (p.Ala1745Val) c.5204C>T (p.Ala1735Val) c.5276C>T (p.Ala1759Val) | gnomAD v4 |
| 3 | g.38551039G>C | CA352141434 | SCN5A | c.5330C>G (p.Ala1777Gly) c.5333C>G (p.Ala1778Gly) c.5279C>G (p.Ala1760Gly) c.5171C>G (p.Ala1724Gly) c.5234C>G (p.Ala1745Gly) c.5204C>G (p.Ala1735Gly) c.5276C>G (p.Ala1759Gly) | |
| 3 | g.38551039G>T | CA352141436 | SCN5A | c.5330C>A (p.Ala1777Asp) c.5333C>A (p.Ala1778Asp) c.5279C>A (p.Ala1760Asp) c.5171C>A (p.Ala1724Asp) c.5234C>A (p.Ala1745Asp) c.5204C>A (p.Ala1735Asp) c.5276C>A (p.Ala1759Asp) | |
| 3 | g.38551040C>A | CA352141438 | SCN5A | c.5329G>T (p.Ala1777Ser) c.5332G>T (p.Ala1778Ser) c.5278G>T (p.Ala1760Ser) c.5170G>T (p.Ala1724Ser) c.5233G>T (p.Ala1745Ser) c.5203G>T (p.Ala1735Ser) c.5275G>T (p.Ala1759Ser) | |
| 3 | g.38551040C>G | CA352141439 | SCN5A | c.5329G>C (p.Ala1777Pro) c.5332G>C (p.Ala1778Pro) c.5278G>C (p.Ala1760Pro) c.5170G>C (p.Ala1724Pro) c.5233G>C (p.Ala1745Pro) c.5203G>C (p.Ala1735Pro) c.5275G>C (p.Ala1759Pro) | |
| 3 | g.38551040C>T | CA352141441 | SCN5A | c.5329G>A (p.Ala1777Thr) c.5332G>A (p.Ala1778Thr) c.5278G>A (p.Ala1760Thr) c.5170G>A (p.Ala1724Thr) c.5233G>A (p.Ala1745Thr) c.5203G>A (p.Ala1735Thr) c.5275G>A (p.Ala1759Thr) | |
| 3 | g.38551041C>A | CA433331971 | SCN5A | c.5328G>T (p.Val1776=) c.5331G>T (p.Val1777=) c.5277G>T (p.Val1759=) c.5169G>T (p.Val1723=) c.5232G>T (p.Val1744=) c.5202G>T (p.Val1734=) c.5274G>T (p.Val1758=) | |
| 3 | g.38551041C= | CA1358557247 | SCN5A | c.5328G= (p.Val1776=) c.5331G= (p.Val1777=) c.5277G= (p.Val1759=) c.5169G= (p.Val1723=) c.5232G= (p.Val1744=) c.5202G= (p.Val1734=) c.5274G= (p.Val1758=) | |
| 3 | g.38551041C>G | CA433331967 | SCN5A | c.5328G>C (p.Val1776=) c.5331G>C (p.Val1777=) c.5277G>C (p.Val1759=) c.5169G>C (p.Val1723=) c.5232G>C (p.Val1744=) c.5202G>C (p.Val1734=) c.5274G>C (p.Val1758=) | |
| 3 | g.38551041C>T | CA433331969 | SCN5A | c.5328G>A (p.Val1776=) c.5331G>A (p.Val1777=) c.5277G>A (p.Val1759=) c.5169G>A (p.Val1723=) c.5232G>A (p.Val1744=) c.5202G>A (p.Val1734=) c.5274G>A (p.Val1758=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551042A>C | CA352141444 | SCN5A | c.5327T>G (p.Val1776Gly) c.5330T>G (p.Val1777Gly) c.5276T>G (p.Val1759Gly) c.5168T>G (p.Val1723Gly) c.5231T>G (p.Val1744Gly) c.5201T>G (p.Val1734Gly) c.5273T>G (p.Val1758Gly) | |
| 3 | g.38551042A>G | CA352141446 | SCN5A | c.5327T>C (p.Val1776Ala) c.5330T>C (p.Val1777Ala) c.5276T>C (p.Val1759Ala) c.5168T>C (p.Val1723Ala) c.5231T>C (p.Val1744Ala) c.5201T>C (p.Val1734Ala) c.5273T>C (p.Val1758Ala) | |
| 3 | g.38551042A>T | CA352141448 | SCN5A | c.5327T>A (p.Val1776Glu) c.5330T>A (p.Val1777Glu) c.5276T>A (p.Val1759Glu) c.5168T>A (p.Val1723Glu) c.5231T>A (p.Val1744Glu) c.5201T>A (p.Val1734Glu) c.5273T>A (p.Val1758Glu) | |
| 3 | g.38551043C>A | CA352141450 | SCN5A | c.5326G>T (p.Val1776Leu) c.5329G>T (p.Val1777Leu) c.5275G>T (p.Val1759Leu) c.5167G>T (p.Val1723Leu) c.5230G>T (p.Val1744Leu) c.5200G>T (p.Val1734Leu) c.5272G>T (p.Val1758Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38551043C= | CA1358557252 | SCN5A | c.5326G= (p.Val1776=) c.5329G= (p.Val1777=) c.5275G= (p.Val1759=) c.5167G= (p.Val1723=) c.5230G= (p.Val1744=) c.5200G= (p.Val1734=) c.5272G= (p.Val1758=) | |
| 3 | g.38551043C>G | CA352141453 | SCN5A | c.5326G>C (p.Val1776Leu) c.5329G>C (p.Val1777Leu) c.5275G>C (p.Val1759Leu) c.5167G>C (p.Val1723Leu) c.5230G>C (p.Val1744Leu) c.5200G>C (p.Val1734Leu) c.5272G>C (p.Val1758Leu) | |
| 3 | g.38551043C>T | CA019129 | SCN5A | c.5326G>A (p.Val1776Met) c.5329G>A (p.Val1777Met) c.5275G>A (p.Val1759Met) c.5167G>A (p.Val1723Met) c.5230G>A (p.Val1744Met) c.5200G>A (p.Val1734Met) c.5272G>A (p.Val1758Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551044G>A | CA433332059 | SCN5A | c.5325C>T (p.Ser1775=) c.5328C>T (p.Ser1776=) c.5274C>T (p.Ser1758=) c.5166C>T (p.Ser1722=) c.5229C>T (p.Ser1743=) c.5199C>T (p.Ser1733=) c.5271C>T (p.Ser1757=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551044G>C | CA352141456 | SCN5A | c.5325C>G (p.Ser1775Arg) c.5328C>G (p.Ser1776Arg) c.5274C>G (p.Ser1758Arg) c.5166C>G (p.Ser1722Arg) c.5229C>G (p.Ser1743Arg) c.5199C>G (p.Ser1733Arg) c.5271C>G (p.Ser1757Arg) | |
| 3 | g.38551044G= | CA1358557255 | SCN5A | c.5325C= (p.Ser1775=) c.5328C= (p.Ser1776=) c.5274C= (p.Ser1758=) c.5166C= (p.Ser1722=) c.5229C= (p.Ser1743=) c.5199C= (p.Ser1733=) c.5271C= (p.Ser1757=) | |
| 3 | g.38551044G>T | CA352141458 | SCN5A | c.5325C>A (p.Ser1775Arg) c.5328C>A (p.Ser1776Arg) c.5274C>A (p.Ser1758Arg) c.5166C>A (p.Ser1722Arg) c.5229C>A (p.Ser1743Arg) c.5199C>A (p.Ser1733Arg) c.5271C>A (p.Ser1757Arg) | |
| 3 | g.38551045C>A | CA352141460 | SCN5A | c.5324G>T (p.Ser1775Ile) c.5327G>T (p.Ser1776Ile) c.5273G>T (p.Ser1758Ile) c.5165G>T (p.Ser1722Ile) c.5228G>T (p.Ser1743Ile) c.5198G>T (p.Ser1733Ile) c.5270G>T (p.Ser1757Ile) | |
| 3 | g.38551045C>G | CA352141462 | SCN5A | c.5324G>C (p.Ser1775Thr) c.5327G>C (p.Ser1776Thr) c.5273G>C (p.Ser1758Thr) c.5165G>C (p.Ser1722Thr) c.5228G>C (p.Ser1743Thr) c.5198G>C (p.Ser1733Thr) c.5270G>C (p.Ser1757Thr) | gnomAD v4 |
| 3 | g.38551045C>T | CA352141464 | SCN5A | c.5324G>A (p.Ser1775Asn) c.5327G>A (p.Ser1776Asn) c.5273G>A (p.Ser1758Asn) c.5165G>A (p.Ser1722Asn) c.5228G>A (p.Ser1743Asn) c.5198G>A (p.Ser1733Asn) c.5270G>A (p.Ser1757Asn) | gnomAD v4 |
| 3 | g.38551046T>A | CA352141472 | SCN5A | c.5323A>T (p.Ser1775Cys) c.5326A>T (p.Ser1776Cys) c.5272A>T (p.Ser1758Cys) c.5164A>T (p.Ser1722Cys) c.5227A>T (p.Ser1743Cys) c.5197A>T (p.Ser1733Cys) c.5269A>T (p.Ser1757Cys) | |
| 3 | g.38551046T>C | CA352141470 | SCN5A | c.5323A>G (p.Ser1775Gly) c.5326A>G (p.Ser1776Gly) c.5272A>G (p.Ser1758Gly) c.5164A>G (p.Ser1722Gly) c.5227A>G (p.Ser1743Gly) c.5197A>G (p.Ser1733Gly) c.5269A>G (p.Ser1757Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551046T>G | CA352141467 | SCN5A | c.5323A>C (p.Ser1775Arg) c.5326A>C (p.Ser1776Arg) c.5272A>C (p.Ser1758Arg) c.5164A>C (p.Ser1722Arg) c.5227A>C (p.Ser1743Arg) c.5197A>C (p.Ser1733Arg) c.5269A>C (p.Ser1757Arg) | |
| 3 | g.38551046T= | CA1358557257 | SCN5A | c.5323A= (p.Ser1775=) c.5326A= (p.Ser1776=) c.5272A= (p.Ser1758=) c.5164A= (p.Ser1722=) c.5227A= (p.Ser1743=) c.5197A= (p.Ser1733=) c.5269A= (p.Ser1757=) | |
| 3 | g.38551047G>A | CA064315 | SCN5A | c.5322C>T (p.Phe1774=) c.5325C>T (p.Phe1775=) c.5271C>T (p.Phe1757=) c.5163C>T (p.Phe1721=) c.5226C>T (p.Phe1742=) c.5196C>T (p.Phe1732=) c.5268C>T (p.Phe1756=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551047G>C | CA352141476 | SCN5A | c.5322C>G (p.Phe1774Leu) c.5325C>G (p.Phe1775Leu) c.5271C>G (p.Phe1757Leu) c.5163C>G (p.Phe1721Leu) c.5226C>G (p.Phe1742Leu) c.5196C>G (p.Phe1732Leu) c.5268C>G (p.Phe1756Leu) | |
| 3 | g.38551047G= | CA1358557259 | SCN5A | c.5322C= (p.Phe1774=) c.5325C= (p.Phe1775=) c.5271C= (p.Phe1757=) c.5163C= (p.Phe1721=) c.5226C= (p.Phe1742=) c.5196C= (p.Phe1732=) c.5268C= (p.Phe1756=) | |
| 3 | g.38551047G>T | CA352141477 | SCN5A | c.5322C>A (p.Phe1774Leu) c.5325C>A (p.Phe1775Leu) c.5271C>A (p.Phe1757Leu) c.5163C>A (p.Phe1721Leu) c.5226C>A (p.Phe1742Leu) c.5196C>A (p.Phe1732Leu) c.5268C>A (p.Phe1756Leu) | |
| 3 | g.38551048A>C | CA352141480 | SCN5A | c.5321T>G (p.Phe1774Cys) c.5324T>G (p.Phe1775Cys) c.5270T>G (p.Phe1757Cys) c.5162T>G (p.Phe1721Cys) c.5225T>G (p.Phe1742Cys) c.5195T>G (p.Phe1732Cys) c.5267T>G (p.Phe1756Cys) | |
| 3 | g.38551048A>G | CA352141482 | SCN5A | c.5321T>C (p.Phe1774Ser) c.5324T>C (p.Phe1775Ser) c.5270T>C (p.Phe1757Ser) c.5162T>C (p.Phe1721Ser) c.5225T>C (p.Phe1742Ser) c.5195T>C (p.Phe1732Ser) c.5267T>C (p.Phe1756Ser) | |
| 3 | g.38551048A>T | CA352141484 | SCN5A | c.5321T>A (p.Phe1774Tyr) c.5324T>A (p.Phe1775Tyr) c.5270T>A (p.Phe1757Tyr) c.5162T>A (p.Phe1721Tyr) c.5225T>A (p.Phe1742Tyr) c.5195T>A (p.Phe1732Tyr) c.5267T>A (p.Phe1756Tyr) | gnomAD v4 |
| 3 | g.38551049del | CA2586965783 | SCN5A | c.5321del (p.Phe1774SerfsTer12) c.5324del (p.Phe1775SerfsTer12) c.5270del (p.Phe1757SerfsTer12) c.5162del (p.Phe1721SerfsTer12) c.5225del (p.Phe1742SerfsTer12) c.5195del (p.Phe1732SerfsTer12) c.5267del (p.Phe1756SerfsTer12) | |
| 3 | g.38551048_38551051dup | CA2586965784 | SCN5A | c.5318_5321dup (p.Phe1774LeufsTer15) c.5321_5324dup (p.Phe1775LeufsTer15) c.5267_5270dup (p.Phe1757LeufsTer15) c.5159_5162dup (p.Phe1721LeufsTer15) c.5222_5225dup (p.Phe1742LeufsTer15) c.5192_5195dup (p.Phe1732LeufsTer15) c.5264_5267dup (p.Phe1756LeufsTer15) | |
| 3 | g.38551049A= | CA1358557261 | SCN5A | c.5320T= (p.Phe1774=) c.5323T= (p.Phe1775=) c.5269T= (p.Phe1757=) c.5161T= (p.Phe1721=) c.5224T= (p.Phe1742=) c.5194T= (p.Phe1732=) c.5266T= (p.Phe1756=) | |
| 3 | g.38551049A>C | CA352141487 | SCN5A | c.5320T>G (p.Phe1774Val) c.5323T>G (p.Phe1775Val) c.5269T>G (p.Phe1757Val) c.5161T>G (p.Phe1721Val) c.5224T>G (p.Phe1742Val) c.5194T>G (p.Phe1732Val) c.5266T>G (p.Phe1756Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551049A>G | CA352141491 | SCN5A | c.5320T>C (p.Phe1774Leu) c.5323T>C (p.Phe1775Leu) c.5269T>C (p.Phe1757Leu) c.5161T>C (p.Phe1721Leu) c.5224T>C (p.Phe1742Leu) c.5194T>C (p.Phe1732Leu) c.5266T>C (p.Phe1756Leu) | |
| 3 | g.38551049A>T | CA352141489 | SCN5A | c.5320T>A (p.Phe1774Ile) c.5323T>A (p.Phe1775Ile) c.5269T>A (p.Phe1757Ile) c.5161T>A (p.Phe1721Ile) c.5224T>A (p.Phe1742Ile) c.5194T>A (p.Phe1732Ile) c.5266T>A (p.Phe1756Ile) | |
| 3 | g.38551050G>A | CA064310 | SCN5A | c.5319C>T (p.Asn1773=) c.5322C>T (p.Asn1774=) c.5268C>T (p.Asn1756=) c.5160C>T (p.Asn1720=) c.5223C>T (p.Asn1741=) c.5193C>T (p.Asn1731=) c.5265C>T (p.Asn1755=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551050G>C | CA352141494 | SCN5A | c.5319C>G (p.Asn1773Lys) c.5322C>G (p.Asn1774Lys) c.5268C>G (p.Asn1756Lys) c.5160C>G (p.Asn1720Lys) c.5223C>G (p.Asn1741Lys) c.5193C>G (p.Asn1731Lys) c.5265C>G (p.Asn1755Lys) | |
| 3 | g.38551050G= | CA1358557263 | SCN5A | c.5319C= (p.Asn1773=) c.5322C= (p.Asn1774=) c.5268C= (p.Asn1756=) c.5160C= (p.Asn1720=) c.5223C= (p.Asn1741=) c.5193C= (p.Asn1731=) c.5265C= (p.Asn1755=) | |
| 3 | g.38551050G>T | CA352141496 | SCN5A | c.5319C>A (p.Asn1773Lys) c.5322C>A (p.Asn1774Lys) c.5268C>A (p.Asn1756Lys) c.5160C>A (p.Asn1720Lys) c.5223C>A (p.Asn1741Lys) c.5193C>A (p.Asn1731Lys) c.5265C>A (p.Asn1755Lys) | |
| 3 | g.38551050_38551051delinsGT | CA1358557264 | SCN5A | c.5318_5319delinsAC (p.Asn1773=) c.5321_5322delinsAC (p.Asn1774=) c.5267_5268delinsAC (p.Asn1756=) c.5159_5160delinsAC (p.Asn1720=) c.5222_5223delinsAC (p.Asn1741=) c.5192_5193delinsAC (p.Asn1731=) c.5264_5265delinsAC (p.Asn1755=) | |
| 3 | g.38551051T>A | CA352141498 | SCN5A | c.5318A>T (p.Asn1773Ile) c.5321A>T (p.Asn1774Ile) c.5267A>T (p.Asn1756Ile) c.5159A>T (p.Asn1720Ile) c.5222A>T (p.Asn1741Ile) c.5192A>T (p.Asn1731Ile) c.5264A>T (p.Asn1755Ile) | |
| 3 | g.38551051T>C | CA019124 | SCN5A | c.5318A>G (p.Asn1773Ser) c.5321A>G (p.Asn1774Ser) c.5267A>G (p.Asn1756Ser) c.5159A>G (p.Asn1720Ser) c.5222A>G (p.Asn1741Ser) c.5192A>G (p.Asn1731Ser) c.5264A>G (p.Asn1755Ser) | ClinVar dbSNP |
| 3 | g.38551051T>G | CA352141501 | SCN5A | c.5318A>C (p.Asn1773Thr) c.5321A>C (p.Asn1774Thr) c.5267A>C (p.Asn1756Thr) c.5159A>C (p.Asn1720Thr) c.5222A>C (p.Asn1741Thr) c.5192A>C (p.Asn1731Thr) c.5264A>C (p.Asn1755Thr) | |
| 3 | g.38551051T= | CA1358557267 | SCN5A | c.5318A= (p.Asn1773=) c.5321A= (p.Asn1774=) c.5267A= (p.Asn1756=) c.5159A= (p.Asn1720=) c.5222A= (p.Asn1741=) c.5192A= (p.Asn1731=) c.5264A= (p.Asn1755=) | |
| 3 | g.38551052del | CA1139657964 | SCN5A | c.5318del (p.Asn1773ThrfsTer13) c.5321del (p.Asn1774ThrfsTer13) c.5267del (p.Asn1756ThrfsTer13) c.5159del (p.Asn1720ThrfsTer13) c.5222del (p.Asn1741ThrfsTer13) c.5192del (p.Asn1731ThrfsTer13) c.5264del (p.Asn1755ThrfsTer13) | ClinVar dbSNP |
| 3 | g.38551052T>A | CA352141504 | SCN5A | c.5317A>T (p.Asn1773Tyr) c.5320A>T (p.Asn1774Tyr) c.5266A>T (p.Asn1756Tyr) c.5158A>T (p.Asn1720Tyr) c.5221A>T (p.Asn1741Tyr) c.5191A>T (p.Asn1731Tyr) c.5263A>T (p.Asn1755Tyr) | ClinVar dbSNP |
| 3 | g.38551052T>C | CA019117 | SCN5A | c.5317A>G (p.Asn1773Asp) c.5320A>G (p.Asn1774Asp) c.5266A>G (p.Asn1756Asp) c.5158A>G (p.Asn1720Asp) c.5221A>G (p.Asn1741Asp) c.5191A>G (p.Asn1731Asp) c.5263A>G (p.Asn1755Asp) | ClinVar dbSNP |
| 3 | g.38551052T>G | CA352141507 | SCN5A | c.5317A>C (p.Asn1773His) c.5320A>C (p.Asn1774His) c.5266A>C (p.Asn1756His) c.5158A>C (p.Asn1720His) c.5221A>C (p.Asn1741His) c.5191A>C (p.Asn1731His) c.5263A>C (p.Asn1755His) | |
| 3 | g.38551052T= | CA1358557271 | SCN5A | c.5317A= (p.Asn1773=) c.5320A= (p.Asn1774=) c.5266A= (p.Asn1756=) c.5158A= (p.Asn1720=) c.5221A= (p.Asn1741=) c.5191A= (p.Asn1731=) c.5263A= (p.Asn1755=) | |
| 3 | g.38551053C>A | CA352141510 | SCN5A | c.5316G>T (p.Glu1772Asp) c.5319G>T (p.Glu1773Asp) c.5265G>T (p.Glu1755Asp) c.5157G>T (p.Glu1719Asp) c.5220G>T (p.Glu1740Asp) c.5190G>T (p.Glu1730Asp) c.5262G>T (p.Glu1754Asp) | |
| 3 | g.38551053C>G | CA352141512 | SCN5A | c.5316G>C (p.Glu1772Asp) c.5319G>C (p.Glu1773Asp) c.5265G>C (p.Glu1755Asp) c.5157G>C (p.Glu1719Asp) c.5220G>C (p.Glu1740Asp) c.5190G>C (p.Glu1730Asp) c.5262G>C (p.Glu1754Asp) | |
| 3 | g.38551053C>T | CA433332068 | SCN5A | c.5316G>A (p.Glu1772=) c.5319G>A (p.Glu1773=) c.5265G>A (p.Glu1755=) c.5157G>A (p.Glu1719=) c.5220G>A (p.Glu1740=) c.5190G>A (p.Glu1730=) c.5262G>A (p.Glu1754=) | |
| 3 | g.38551054T>A | CA352141519 | SCN5A | c.5315A>T (p.Glu1772Val) c.5318A>T (p.Glu1773Val) c.5264A>T (p.Glu1755Val) c.5156A>T (p.Glu1719Val) c.5219A>T (p.Glu1740Val) c.5189A>T (p.Glu1730Val) c.5261A>T (p.Glu1754Val) | |
| 3 | g.38551054T>C | CA352141517 | SCN5A | c.5315A>G (p.Glu1772Gly) c.5318A>G (p.Glu1773Gly) c.5264A>G (p.Glu1755Gly) c.5156A>G (p.Glu1719Gly) c.5219A>G (p.Glu1740Gly) c.5189A>G (p.Glu1730Gly) c.5261A>G (p.Glu1754Gly) | |
| 3 | g.38551054T>G | CA352141515 | SCN5A | c.5315A>C (p.Glu1772Ala) c.5318A>C (p.Glu1773Ala) c.5264A>C (p.Glu1755Ala) c.5156A>C (p.Glu1719Ala) c.5219A>C (p.Glu1740Ala) c.5189A>C (p.Glu1730Ala) c.5261A>C (p.Glu1754Ala) | |
| 3 | g.38551055C>A | CA352141522 | SCN5A | c.5314G>T (p.Glu1772Ter) c.5317G>T (p.Glu1773Ter) c.5263G>T (p.Glu1755Ter) c.5155G>T (p.Glu1719Ter) c.5218G>T (p.Glu1740Ter) c.5188G>T (p.Glu1730Ter) c.5260G>T (p.Glu1754Ter) | dbSNP |
| 3 | g.38551055C= | CA1358557274 | SCN5A | c.5314G= (p.Glu1772=) c.5317G= (p.Glu1773=) c.5263G= (p.Glu1755=) c.5155G= (p.Glu1719=) c.5218G= (p.Glu1740=) c.5188G= (p.Glu1730=) c.5260G= (p.Glu1754=) | |
| 3 | g.38551055C>G | CA352141526 | SCN5A | c.5314G>C (p.Glu1772Gln) c.5317G>C (p.Glu1773Gln) c.5263G>C (p.Glu1755Gln) c.5155G>C (p.Glu1719Gln) c.5218G>C (p.Glu1740Gln) c.5188G>C (p.Glu1730Gln) c.5260G>C (p.Glu1754Gln) | gnomAD v4 |
| 3 | g.38551055C>T | CA352141524 | SCN5A | c.5314G>A (p.Glu1772Lys) c.5317G>A (p.Glu1773Lys) c.5263G>A (p.Glu1755Lys) c.5155G>A (p.Glu1719Lys) c.5218G>A (p.Glu1740Lys) c.5188G>A (p.Glu1730Lys) c.5260G>A (p.Glu1754Lys) | |
| 3 | g.38551056C>A | CA433332070 | SCN5A | c.5313G>T (p.Leu1771=) c.5316G>T (p.Leu1772=) c.5262G>T (p.Leu1754=) c.5154G>T (p.Leu1718=) c.5217G>T (p.Leu1739=) c.5187G>T (p.Leu1729=) c.5259G>T (p.Leu1753=) | |
| 3 | g.38551056C= | CA1358557276 | SCN5A | c.5313G= (p.Leu1771=) c.5316G= (p.Leu1772=) c.5262G= (p.Leu1754=) c.5154G= (p.Leu1718=) c.5217G= (p.Leu1739=) c.5187G= (p.Leu1729=) c.5259G= (p.Leu1753=) | |
| 3 | g.38551056C>G | CA433332071 | SCN5A | c.5313G>C (p.Leu1771=) c.5316G>C (p.Leu1772=) c.5262G>C (p.Leu1754=) c.5154G>C (p.Leu1718=) c.5217G>C (p.Leu1739=) c.5187G>C (p.Leu1729=) c.5259G>C (p.Leu1753=) | |
| 3 | g.38551056C>T | CA433332073 | SCN5A | c.5313G>A (p.Leu1771=) c.5316G>A (p.Leu1772=) c.5262G>A (p.Leu1754=) c.5154G>A (p.Leu1718=) c.5217G>A (p.Leu1739=) c.5187G>A (p.Leu1729=) c.5259G>A (p.Leu1753=) | ClinVar dbSNP |
| 3 | g.38551057A= | CA1358557279 | SCN5A | c.5312T= (p.Leu1771=) c.5315T= (p.Leu1772=) c.5261T= (p.Leu1754=) c.5153T= (p.Leu1718=) c.5216T= (p.Leu1739=) c.5186T= (p.Leu1729=) c.5258T= (p.Leu1753=) | |
| 3 | g.38551057A>C | CA352141530 | SCN5A | c.5312T>G (p.Leu1771Arg) c.5315T>G (p.Leu1772Arg) c.5261T>G (p.Leu1754Arg) c.5153T>G (p.Leu1718Arg) c.5216T>G (p.Leu1739Arg) c.5186T>G (p.Leu1729Arg) c.5258T>G (p.Leu1753Arg) | |
| 3 | g.38551057A>G | CA352141533 | SCN5A | c.5312T>C (p.Leu1771Pro) c.5315T>C (p.Leu1772Pro) c.5261T>C (p.Leu1754Pro) c.5153T>C (p.Leu1718Pro) c.5216T>C (p.Leu1739Pro) c.5186T>C (p.Leu1729Pro) c.5258T>C (p.Leu1753Pro) | ClinVar dbSNP |
| 3 | g.38551057A>T | CA352141531 | SCN5A | c.5312T>A (p.Leu1771Gln) c.5315T>A (p.Leu1772Gln) c.5261T>A (p.Leu1754Gln) c.5153T>A (p.Leu1718Gln) c.5216T>A (p.Leu1739Gln) c.5186T>A (p.Leu1729Gln) c.5258T>A (p.Leu1753Gln) | |
| 3 | g.38551058G>A | CA433332074 | SCN5A | c.5311C>T (p.Leu1771=) c.5314C>T (p.Leu1772=) c.5260C>T (p.Leu1754=) c.5152C>T (p.Leu1718=) c.5215C>T (p.Leu1739=) c.5185C>T (p.Leu1729=) c.5257C>T (p.Leu1753=) | |
| 3 | g.38551058G>C | CA019110 | SCN5A | c.5311C>G (p.Leu1771Val) c.5314C>G (p.Leu1772Val) c.5260C>G (p.Leu1754Val) c.5152C>G (p.Leu1718Val) c.5215C>G (p.Leu1739Val) c.5185C>G (p.Leu1729Val) c.5257C>G (p.Leu1753Val) | ClinVar dbSNP |
| 3 | g.38551058G= | CA1358557282 | SCN5A | c.5311C= (p.Leu1771=) c.5314C= (p.Leu1772=) c.5260C= (p.Leu1754=) c.5152C= (p.Leu1718=) c.5215C= (p.Leu1739=) c.5185C= (p.Leu1729=) c.5257C= (p.Leu1753=) | |
| 3 | g.38551058G>T | CA352141537 | SCN5A | c.5311C>A (p.Leu1771Met) c.5314C>A (p.Leu1772Met) c.5260C>A (p.Leu1754Met) c.5152C>A (p.Leu1718Met) c.5215C>A (p.Leu1739Met) c.5185C>A (p.Leu1729Met) c.5257C>A (p.Leu1753Met) | |
| 3 | g.38551059del | CA2586965786 | SCN5A | c.5311del (p.Leu1771TrpfsTer15) c.5314del (p.Leu1772TrpfsTer15) c.5260del (p.Leu1754TrpfsTer15) c.5152del (p.Leu1718TrpfsTer15) c.5215del (p.Leu1739TrpfsTer15) c.5185del (p.Leu1729TrpfsTer15) c.5257del (p.Leu1753TrpfsTer15) |