UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38551085C>A | CA352141634 | SCN5A | c.5284G>T (p.Val1762Leu) c.5287G>T (p.Val1763Leu) c.5233G>T (p.Val1745Leu) c.5125G>T (p.Val1709Leu) c.5188G>T (p.Val1730Leu) c.5158G>T (p.Val1720Leu) c.5230G>T (p.Val1744Leu) | |
| 3 | g.38551085C= | CA1358557319 | SCN5A | c.5284G= (p.Val1762=) c.5287G= (p.Val1763=) c.5233G= (p.Val1745=) c.5125G= (p.Val1709=) c.5188G= (p.Val1730=) c.5158G= (p.Val1720=) c.5230G= (p.Val1744=) | |
| 3 | g.38551085C>G | CA352141636 | SCN5A | c.5284G>C (p.Val1762Leu) c.5287G>C (p.Val1763Leu) c.5233G>C (p.Val1745Leu) c.5125G>C (p.Val1709Leu) c.5188G>C (p.Val1730Leu) c.5158G>C (p.Val1720Leu) c.5230G>C (p.Val1744Leu) | |
| 3 | g.38551085C>T | CA019062 | SCN5A | c.5284G>A (p.Val1762Met) c.5287G>A (p.Val1763Met) c.5233G>A (p.Val1745Met) c.5125G>A (p.Val1709Met) c.5188G>A (p.Val1730Met) c.5158G>A (p.Val1720Met) c.5230G>A (p.Val1744Met) | ClinVar dbSNP |
| 3 | g.38551086G>A | CA064293 | SCN5A | c.5283C>T (p.Ile1761=) c.5286C>T (p.Ile1762=) c.5232C>T (p.Ile1744=) c.5124C>T (p.Ile1708=) c.5187C>T (p.Ile1729=) c.5157C>T (p.Ile1719=) c.5229C>T (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551086G>C | CA352141640 | SCN5A | c.5283C>G (p.Ile1761Met) c.5286C>G (p.Ile1762Met) c.5232C>G (p.Ile1744Met) c.5124C>G (p.Ile1708Met) c.5187C>G (p.Ile1729Met) c.5157C>G (p.Ile1719Met) c.5229C>G (p.Ile1743Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551086G= | CA1358557327 | SCN5A | c.5283C= (p.Ile1761=) c.5286C= (p.Ile1762=) c.5232C= (p.Ile1744=) c.5124C= (p.Ile1708=) c.5187C= (p.Ile1729=) c.5157C= (p.Ile1719=) c.5229C= (p.Ile1743=) | |
| 3 | g.38551086G>T | CA064288 | SCN5A | c.5283C>A (p.Ile1761=) c.5286C>A (p.Ile1762=) c.5232C>A (p.Ile1744=) c.5124C>A (p.Ile1708=) c.5187C>A (p.Ile1729=) c.5157C>A (p.Ile1719=) c.5229C>A (p.Ile1743=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551086_38551087delinsGA | CA1358557324 | SCN5A | c.5282_5283delinsTC (p.Ile1761=) c.5285_5286delinsTC (p.Ile1762=) c.5231_5232delinsTC (p.Ile1744=) c.5123_5124delinsTC (p.Ile1708=) c.5186_5187delinsTC (p.Ile1729=) c.5156_5157delinsTC (p.Ile1719=) c.5228_5229delinsTC (p.Ile1743=) | |
| 3 | g.38551087del | CA10588359 | SCN5A | c.5282del (p.Ile1761ThrfsTer25) c.5285del (p.Ile1762ThrfsTer25) c.5231del (p.Ile1744ThrfsTer25) c.5123del (p.Ile1708ThrfsTer25) c.5186del (p.Ile1729ThrfsTer25) c.5156del (p.Ile1719ThrfsTer25) c.5228del (p.Ile1743ThrfsTer25) | ClinVar dbSNP |
| 3 | g.38551087A>C | CA352141642 | SCN5A | c.5282T>G (p.Ile1761Ser) c.5285T>G (p.Ile1762Ser) c.5231T>G (p.Ile1744Ser) c.5123T>G (p.Ile1708Ser) c.5186T>G (p.Ile1729Ser) c.5156T>G (p.Ile1719Ser) c.5228T>G (p.Ile1743Ser) | |
| 3 | g.38551087A>G | CA352141643 | SCN5A | c.5282T>C (p.Ile1761Thr) c.5285T>C (p.Ile1762Thr) c.5231T>C (p.Ile1744Thr) c.5123T>C (p.Ile1708Thr) c.5186T>C (p.Ile1729Thr) c.5156T>C (p.Ile1719Thr) c.5228T>C (p.Ile1743Thr) | |
| 3 | g.38551087A>T | CA352141645 | SCN5A | c.5282T>A (p.Ile1761Asn) c.5285T>A (p.Ile1762Asn) c.5231T>A (p.Ile1744Asn) c.5123T>A (p.Ile1708Asn) c.5186T>A (p.Ile1729Asn) c.5156T>A (p.Ile1719Asn) c.5228T>A (p.Ile1743Asn) | |
| 3 | g.38551088T>A | CA352141653 | SCN5A | c.5281A>T (p.Ile1761Phe) c.5284A>T (p.Ile1762Phe) c.5230A>T (p.Ile1744Phe) c.5122A>T (p.Ile1708Phe) c.5185A>T (p.Ile1729Phe) c.5155A>T (p.Ile1719Phe) c.5227A>T (p.Ile1743Phe) | gnomAD v4 |
| 3 | g.38551088T>C | CA352141649 | SCN5A | c.5281A>G (p.Ile1761Val) c.5284A>G (p.Ile1762Val) c.5230A>G (p.Ile1744Val) c.5122A>G (p.Ile1708Val) c.5185A>G (p.Ile1729Val) c.5155A>G (p.Ile1719Val) c.5227A>G (p.Ile1743Val) | |
| 3 | g.38551088T>G | CA352141651 | SCN5A | c.5281A>C (p.Ile1761Leu) c.5284A>C (p.Ile1762Leu) c.5230A>C (p.Ile1744Leu) c.5122A>C (p.Ile1708Leu) c.5185A>C (p.Ile1729Leu) c.5155A>C (p.Ile1719Leu) c.5227A>C (p.Ile1743Leu) | |
| 3 | g.38551089G>A | CA433332132 | SCN5A | c.5280C>T (p.Leu1760=) c.5283C>T (p.Leu1761=) c.5229C>T (p.Leu1743=) c.5121C>T (p.Leu1707=) c.5184C>T (p.Leu1728=) c.5154C>T (p.Leu1718=) c.5226C>T (p.Leu1742=) | |
| 3 | g.38551089G>C | CA433332131 | SCN5A | c.5280C>G (p.Leu1760=) c.5283C>G (p.Leu1761=) c.5229C>G (p.Leu1743=) c.5121C>G (p.Leu1707=) c.5184C>G (p.Leu1728=) c.5154C>G (p.Leu1718=) c.5226C>G (p.Leu1742=) | |
| 3 | g.38551089G>T | CA433332133 | SCN5A | c.5280C>A (p.Leu1760=) c.5283C>A (p.Leu1761=) c.5229C>A (p.Leu1743=) c.5121C>A (p.Leu1707=) c.5184C>A (p.Leu1728=) c.5154C>A (p.Leu1718=) c.5226C>A (p.Leu1742=) | |
| 3 | g.38551090A= | CA1358557331 | SCN5A | c.5279T= (p.Leu1760=) c.5282T= (p.Leu1761=) c.5228T= (p.Leu1743=) c.5120T= (p.Leu1707=) c.5183T= (p.Leu1728=) c.5153T= (p.Leu1718=) c.5225T= (p.Leu1742=) | |
| 3 | g.38551090A>C | CA352141654 | SCN5A | c.5279T>G (p.Leu1760Arg) c.5282T>G (p.Leu1761Arg) c.5228T>G (p.Leu1743Arg) c.5120T>G (p.Leu1707Arg) c.5183T>G (p.Leu1728Arg) c.5153T>G (p.Leu1718Arg) c.5225T>G (p.Leu1742Arg) | |
| 3 | g.38551090A>G | CA352141656 | SCN5A | c.5279T>C (p.Leu1760Pro) c.5282T>C (p.Leu1761Pro) c.5228T>C (p.Leu1743Pro) c.5120T>C (p.Leu1707Pro) c.5183T>C (p.Leu1728Pro) c.5153T>C (p.Leu1718Pro) c.5225T>C (p.Leu1742Pro) | |
| 3 | g.38551090A>T | CA019056 | SCN5A | c.5279T>A (p.Leu1760His) c.5282T>A (p.Leu1761His) c.5228T>A (p.Leu1743His) c.5120T>A (p.Leu1707His) c.5183T>A (p.Leu1728His) c.5153T>A (p.Leu1718His) c.5225T>A (p.Leu1742His) | ClinVar dbSNP |
| 3 | g.38551094_38551097del | CA2580614202 | SCN5A | c.5276_5279del (p.Phe1759SerfsTer26) c.5279_5282del (p.Phe1760SerfsTer26) c.5225_5228del (p.Phe1742SerfsTer26) c.5117_5120del (p.Phe1706SerfsTer26) c.5180_5183del (p.Phe1727SerfsTer26) c.5150_5153del (p.Phe1717SerfsTer26) c.5222_5225del (p.Phe1741SerfsTer26) | ClinVar |
| 3 | g.38551091G>A | CA019050 | SCN5A | c.5278C>T (p.Leu1760Phe) c.5281C>T (p.Leu1761Phe) c.5227C>T (p.Leu1743Phe) c.5119C>T (p.Leu1707Phe) c.5182C>T (p.Leu1728Phe) c.5152C>T (p.Leu1718Phe) c.5224C>T (p.Leu1742Phe) | ClinVar dbSNP |
| 3 | g.38551091G>C | CA352141660 | SCN5A | c.5278C>G (p.Leu1760Val) c.5281C>G (p.Leu1761Val) c.5227C>G (p.Leu1743Val) c.5119C>G (p.Leu1707Val) c.5182C>G (p.Leu1728Val) c.5152C>G (p.Leu1718Val) c.5224C>G (p.Leu1742Val) | |
| 3 | g.38551091G= | CA1358557335 | SCN5A | c.5278C= (p.Leu1760=) c.5281C= (p.Leu1761=) c.5227C= (p.Leu1743=) c.5119C= (p.Leu1707=) c.5182C= (p.Leu1728=) c.5152C= (p.Leu1718=) c.5224C= (p.Leu1742=) | |
| 3 | g.38551091G>T | CA352141661 | SCN5A | c.5278C>A (p.Leu1760Ile) c.5281C>A (p.Leu1761Ile) c.5227C>A (p.Leu1743Ile) c.5119C>A (p.Leu1707Ile) c.5182C>A (p.Leu1728Ile) c.5152C>A (p.Leu1718Ile) c.5224C>A (p.Leu1742Ile) | |
| 3 | g.38551092dup | CA2586965795 | SCN5A | c.5278dup (p.Leu1760ProfsTer28) c.5281dup (p.Leu1761ProfsTer28) c.5227dup (p.Leu1743ProfsTer28) c.5119dup (p.Leu1707ProfsTer28) c.5182dup (p.Leu1728ProfsTer28) c.5152dup (p.Leu1718ProfsTer28) c.5224dup (p.Leu1742ProfsTer28) | |
| 3 | g.38551092G>A | CA433332135 | SCN5A | c.5277C>T (p.Phe1759=) c.5280C>T (p.Phe1760=) c.5226C>T (p.Phe1742=) c.5118C>T (p.Phe1706=) c.5181C>T (p.Phe1727=) c.5151C>T (p.Phe1717=) c.5223C>T (p.Phe1741=) | |
| 3 | g.38551092G>C | CA352141663 | SCN5A | c.5277C>G (p.Phe1759Leu) c.5280C>G (p.Phe1760Leu) c.5226C>G (p.Phe1742Leu) c.5118C>G (p.Phe1706Leu) c.5181C>G (p.Phe1727Leu) c.5151C>G (p.Phe1717Leu) c.5223C>G (p.Phe1741Leu) | |
| 3 | g.38551092G>T | CA352141665 | SCN5A | c.5277C>A (p.Phe1759Leu) c.5280C>A (p.Phe1760Leu) c.5226C>A (p.Phe1742Leu) c.5118C>A (p.Phe1706Leu) c.5181C>A (p.Phe1727Leu) c.5151C>A (p.Phe1717Leu) c.5223C>A (p.Phe1741Leu) | |
| 3 | g.38551093A= | CA1358557339 | SCN5A | c.5276T= (p.Phe1759=) c.5279T= (p.Phe1760=) c.5225T= (p.Phe1742=) c.5117T= (p.Phe1706=) c.5180T= (p.Phe1727=) c.5150T= (p.Phe1717=) c.5222T= (p.Phe1741=) | |
| 3 | g.38551093A>C | CA352141667 | SCN5A | c.5276T>G (p.Phe1759Cys) c.5279T>G (p.Phe1760Cys) c.5225T>G (p.Phe1742Cys) c.5117T>G (p.Phe1706Cys) c.5180T>G (p.Phe1727Cys) c.5150T>G (p.Phe1717Cys) c.5222T>G (p.Phe1741Cys) | ClinVar dbSNP |
| 3 | g.38551093A>G | CA352141669 | SCN5A | c.5276T>C (p.Phe1759Ser) c.5279T>C (p.Phe1760Ser) c.5225T>C (p.Phe1742Ser) c.5117T>C (p.Phe1706Ser) c.5180T>C (p.Phe1727Ser) c.5150T>C (p.Phe1717Ser) c.5222T>C (p.Phe1741Ser) | |
| 3 | g.38551093A>T | CA352141671 | SCN5A | c.5276T>A (p.Phe1759Tyr) c.5279T>A (p.Phe1760Tyr) c.5225T>A (p.Phe1742Tyr) c.5117T>A (p.Phe1706Tyr) c.5180T>A (p.Phe1727Tyr) c.5150T>A (p.Phe1717Tyr) c.5222T>A (p.Phe1741Tyr) | |
| 3 | g.38551094A>C | CA352141676 | SCN5A | c.5275T>G (p.Phe1759Val) c.5278T>G (p.Phe1760Val) c.5224T>G (p.Phe1742Val) c.5116T>G (p.Phe1706Val) c.5179T>G (p.Phe1727Val) c.5149T>G (p.Phe1717Val) c.5221T>G (p.Phe1741Val) | |
| 3 | g.38551094A>G | CA352141675 | SCN5A | c.5275T>C (p.Phe1759Leu) c.5278T>C (p.Phe1760Leu) c.5224T>C (p.Phe1742Leu) c.5116T>C (p.Phe1706Leu) c.5179T>C (p.Phe1727Leu) c.5149T>C (p.Phe1717Leu) c.5221T>C (p.Phe1741Leu) | |
| 3 | g.38551094A>T | CA352141673 | SCN5A | c.5275T>A (p.Phe1759Ile) c.5278T>A (p.Phe1760Ile) c.5224T>A (p.Phe1742Ile) c.5116T>A (p.Phe1706Ile) c.5179T>A (p.Phe1727Ile) c.5149T>A (p.Phe1717Ile) c.5221T>A (p.Phe1741Ile) | |
| 3 | g.38551095G>A | CA72937994 | SCN5A | c.5274C>T (p.Ser1758=) c.5277C>T (p.Ser1759=) c.5223C>T (p.Ser1741=) c.5115C>T (p.Ser1705=) c.5178C>T (p.Ser1726=) c.5148C>T (p.Ser1716=) c.5220C>T (p.Ser1740=) | dbSNP gnomAD v4 |
| 3 | g.38551095G>C | CA433332137 | SCN5A | c.5274C>G (p.Ser1758=) c.5277C>G (p.Ser1759=) c.5223C>G (p.Ser1741=) c.5115C>G (p.Ser1705=) c.5178C>G (p.Ser1726=) c.5148C>G (p.Ser1716=) c.5220C>G (p.Ser1740=) | |
| 3 | g.38551095G= | CA1358557341 | SCN5A | c.5274C= (p.Ser1758=) c.5277C= (p.Ser1759=) c.5223C= (p.Ser1741=) c.5115C= (p.Ser1705=) c.5178C= (p.Ser1726=) c.5148C= (p.Ser1716=) c.5220C= (p.Ser1740=) | |
| 3 | g.38551095G>T | CA433332139 | SCN5A | c.5274C>A (p.Ser1758=) c.5277C>A (p.Ser1759=) c.5223C>A (p.Ser1741=) c.5115C>A (p.Ser1705=) c.5178C>A (p.Ser1726=) c.5148C>A (p.Ser1716=) c.5220C>A (p.Ser1740=) | |
| 3 | g.38551096G>A | CA352141678 | SCN5A | c.5273C>T (p.Ser1758Phe) c.5276C>T (p.Ser1759Phe) c.5222C>T (p.Ser1741Phe) c.5114C>T (p.Ser1705Phe) c.5177C>T (p.Ser1726Phe) c.5147C>T (p.Ser1716Phe) c.5219C>T (p.Ser1740Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38551096G>C | CA064283 | SCN5A | c.5273C>G (p.Ser1758Cys) c.5276C>G (p.Ser1759Cys) c.5222C>G (p.Ser1741Cys) c.5114C>G (p.Ser1705Cys) c.5177C>G (p.Ser1726Cys) c.5147C>G (p.Ser1716Cys) c.5219C>G (p.Ser1740Cys) | dbSNP ExAC gnomAD v2 |
| 3 | g.38551096G= | CA1358557343 | SCN5A | c.5273C= (p.Ser1758=) c.5276C= (p.Ser1759=) c.5222C= (p.Ser1741=) c.5114C= (p.Ser1705=) c.5177C= (p.Ser1726=) c.5147C= (p.Ser1716=) c.5219C= (p.Ser1740=) | |
| 3 | g.38551096G>T | CA352141681 | SCN5A | c.5273C>A (p.Ser1758Tyr) c.5276C>A (p.Ser1759Tyr) c.5222C>A (p.Ser1741Tyr) c.5114C>A (p.Ser1705Tyr) c.5177C>A (p.Ser1726Tyr) c.5147C>A (p.Ser1716Tyr) c.5219C>A (p.Ser1740Tyr) | |
| 3 | g.38551097A>C | CA352141683 | SCN5A | c.5272T>G (p.Ser1758Ala) c.5275T>G (p.Ser1759Ala) c.5221T>G (p.Ser1741Ala) c.5113T>G (p.Ser1705Ala) c.5176T>G (p.Ser1726Ala) c.5146T>G (p.Ser1716Ala) c.5218T>G (p.Ser1740Ala) | |
| 3 | g.38551097A>G | CA352141685 | SCN5A | c.5272T>C (p.Ser1758Pro) c.5275T>C (p.Ser1759Pro) c.5221T>C (p.Ser1741Pro) c.5113T>C (p.Ser1705Pro) c.5176T>C (p.Ser1726Pro) c.5146T>C (p.Ser1716Pro) c.5218T>C (p.Ser1740Pro) | gnomAD v4 |
| 3 | g.38551097A>T | CA352141687 | SCN5A | c.5272T>A (p.Ser1758Thr) c.5275T>A (p.Ser1759Thr) c.5221T>A (p.Ser1741Thr) c.5113T>A (p.Ser1705Thr) c.5176T>A (p.Ser1726Thr) c.5146T>A (p.Ser1716Thr) c.5218T>A (p.Ser1740Thr) | |
| 3 | g.38551097_38551100delinsAGAT | CA1358557345 | SCN5A | c.5269_5272delinsATCT (p.Ile1757=) c.5272_5275delinsATCT (p.Ile1758=) c.5218_5221delinsATCT (p.Ile1740=) c.5110_5113delinsATCT (p.Ile1704=) c.5173_5176delinsATCT (p.Ile1725=) c.5143_5146delinsATCT (p.Ile1715=) c.5215_5218delinsATCT (p.Ile1739=) | |
| 3 | g.38551098G>A | CA433332143 | SCN5A | c.5271C>T (p.Ile1757=) c.5274C>T (p.Ile1758=) c.5220C>T (p.Ile1740=) c.5112C>T (p.Ile1704=) c.5175C>T (p.Ile1725=) c.5145C>T (p.Ile1715=) c.5217C>T (p.Ile1739=) | |
| 3 | g.38551098G>C | CA352141688 | SCN5A | c.5271C>G (p.Ile1757Met) c.5274C>G (p.Ile1758Met) c.5220C>G (p.Ile1740Met) c.5112C>G (p.Ile1704Met) c.5175C>G (p.Ile1725Met) c.5145C>G (p.Ile1715Met) c.5217C>G (p.Ile1739Met) | |
| 3 | g.38551098G>T | CA433332146 | SCN5A | c.5271C>A (p.Ile1757=) c.5274C>A (p.Ile1758=) c.5220C>A (p.Ile1740=) c.5112C>A (p.Ile1704=) c.5175C>A (p.Ile1725=) c.5145C>A (p.Ile1715=) c.5217C>A (p.Ile1739=) | ClinVar gnomAD v4 |
| 3 | g.38551105_38551107del | CA915942425 | SCN5A | c.5269_5271del (p.Ile1757del) c.5272_5274del (p.Ile1758del) c.5218_5220del (p.Ile1740del) c.5110_5112del (p.Ile1704del) c.5173_5175del (p.Ile1725del) c.5143_5145del (p.Ile1715del) c.5215_5217del (p.Ile1739del) | ClinVar dbSNP |
| 3 | g.38551099A>C | CA352141690 | SCN5A | c.5270T>G (p.Ile1757Ser) c.5273T>G (p.Ile1758Ser) c.5219T>G (p.Ile1740Ser) c.5111T>G (p.Ile1704Ser) c.5174T>G (p.Ile1725Ser) c.5144T>G (p.Ile1715Ser) c.5216T>G (p.Ile1739Ser) | |
| 3 | g.38551099A>G | CA352141694 | SCN5A | c.5270T>C (p.Ile1757Thr) c.5273T>C (p.Ile1758Thr) c.5219T>C (p.Ile1740Thr) c.5111T>C (p.Ile1704Thr) c.5174T>C (p.Ile1725Thr) c.5144T>C (p.Ile1715Thr) c.5216T>C (p.Ile1739Thr) | |
| 3 | g.38551099A>T | CA352141692 | SCN5A | c.5270T>A (p.Ile1757Asn) c.5273T>A (p.Ile1758Asn) c.5219T>A (p.Ile1740Asn) c.5111T>A (p.Ile1704Asn) c.5174T>A (p.Ile1725Asn) c.5144T>A (p.Ile1715Asn) c.5216T>A (p.Ile1739Asn) | |
| 3 | g.38551100T>A | CA352141696 | SCN5A | c.5269A>T (p.Ile1757Phe) c.5272A>T (p.Ile1758Phe) c.5218A>T (p.Ile1740Phe) c.5110A>T (p.Ile1704Phe) c.5173A>T (p.Ile1725Phe) c.5143A>T (p.Ile1715Phe) c.5215A>T (p.Ile1739Phe) | |
| 3 | g.38551100T>C | CA352141697 | SCN5A | c.5269A>G (p.Ile1757Val) c.5272A>G (p.Ile1758Val) c.5218A>G (p.Ile1740Val) c.5110A>G (p.Ile1704Val) c.5173A>G (p.Ile1725Val) c.5143A>G (p.Ile1715Val) c.5215A>G (p.Ile1739Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551100T>G | CA352141699 | SCN5A | c.5269A>C (p.Ile1757Leu) c.5272A>C (p.Ile1758Leu) c.5218A>C (p.Ile1740Leu) c.5110A>C (p.Ile1704Leu) c.5173A>C (p.Ile1725Leu) c.5143A>C (p.Ile1715Leu) c.5215A>C (p.Ile1739Leu) | |
| 3 | g.38551100T= | CA1358557350 | SCN5A | c.5269A= (p.Ile1757=) c.5272A= (p.Ile1758=) c.5218A= (p.Ile1740=) c.5110A= (p.Ile1704=) c.5173A= (p.Ile1725=) c.5143A= (p.Ile1715=) c.5215A= (p.Ile1739=) | |
| 3 | g.38551101del | CA2586965799 | SCN5A | c.5268del (p.Ile1757SerfsTer29) c.5271del (p.Ile1758SerfsTer29) c.5217del (p.Ile1740SerfsTer29) c.5109del (p.Ile1704SerfsTer29) c.5172del (p.Ile1725SerfsTer29) c.5142del (p.Ile1715SerfsTer29) c.5214del (p.Ile1739SerfsTer29) | |
| 3 | g.38551101G>A | CA433332150 | SCN5A | c.5268C>T (p.Ile1756=) c.5271C>T (p.Ile1757=) c.5217C>T (p.Ile1739=) c.5109C>T (p.Ile1703=) c.5172C>T (p.Ile1724=) c.5142C>T (p.Ile1714=) c.5214C>T (p.Ile1738=) | gnomAD v4 |
| 3 | g.38551101G>C | CA352141701 | SCN5A | c.5268C>G (p.Ile1756Met) c.5271C>G (p.Ile1757Met) c.5217C>G (p.Ile1739Met) c.5109C>G (p.Ile1703Met) c.5172C>G (p.Ile1724Met) c.5142C>G (p.Ile1714Met) c.5214C>G (p.Ile1738Met) | |
| 3 | g.38551101G>T | CA433332151 | SCN5A | c.5268C>A (p.Ile1756=) c.5271C>A (p.Ile1757=) c.5217C>A (p.Ile1739=) c.5109C>A (p.Ile1703=) c.5172C>A (p.Ile1724=) c.5142C>A (p.Ile1714=) c.5214C>A (p.Ile1738=) | |
| 3 | g.38551102A>C | CA352141703 | SCN5A | c.5267T>G (p.Ile1756Ser) c.5270T>G (p.Ile1757Ser) c.5216T>G (p.Ile1739Ser) c.5108T>G (p.Ile1703Ser) c.5171T>G (p.Ile1724Ser) c.5141T>G (p.Ile1714Ser) c.5213T>G (p.Ile1738Ser) | |
| 3 | g.38551102A>G | CA352141706 | SCN5A | c.5267T>C (p.Ile1756Thr) c.5270T>C (p.Ile1757Thr) c.5216T>C (p.Ile1739Thr) c.5108T>C (p.Ile1703Thr) c.5171T>C (p.Ile1724Thr) c.5141T>C (p.Ile1714Thr) c.5213T>C (p.Ile1738Thr) | |
| 3 | g.38551102A>T | CA352141705 | SCN5A | c.5267T>A (p.Ile1756Asn) c.5270T>A (p.Ile1757Asn) c.5216T>A (p.Ile1739Asn) c.5108T>A (p.Ile1703Asn) c.5171T>A (p.Ile1724Asn) c.5141T>A (p.Ile1714Asn) c.5213T>A (p.Ile1738Asn) | |
| 3 | g.38551102_38551107delinsT | CA2586965801 | SCN5A | c.5262_5267delinsA (p.Tyr1754Ter) c.5265_5270delinsA (p.Tyr1755Ter) c.5211_5216delinsA (p.Tyr1737Ter) c.5103_5108delinsA (p.Tyr1701Ter) c.5166_5171delinsA (p.Tyr1722Ter) c.5136_5141delinsA (p.Tyr1712Ter) c.5208_5213delinsA (p.Tyr1736Ter) | |
| 3 | g.38551103T>A | CA352141709 | SCN5A | c.5266A>T (p.Ile1756Phe) c.5269A>T (p.Ile1757Phe) c.5215A>T (p.Ile1739Phe) c.5107A>T (p.Ile1703Phe) c.5170A>T (p.Ile1724Phe) c.5140A>T (p.Ile1714Phe) c.5212A>T (p.Ile1738Phe) | |
| 3 | g.38551103T>C | CA352141710 | SCN5A | c.5266A>G (p.Ile1756Val) c.5269A>G (p.Ile1757Val) c.5215A>G (p.Ile1739Val) c.5107A>G (p.Ile1703Val) c.5170A>G (p.Ile1724Val) c.5140A>G (p.Ile1714Val) c.5212A>G (p.Ile1738Val) | |
| 3 | g.38551103T>G | CA352141712 | SCN5A | c.5266A>C (p.Ile1756Leu) c.5269A>C (p.Ile1757Leu) c.5215A>C (p.Ile1739Leu) c.5107A>C (p.Ile1703Leu) c.5170A>C (p.Ile1724Leu) c.5140A>C (p.Ile1714Leu) c.5212A>C (p.Ile1738Leu) | |
| 3 | g.38551104G>A | CA433332153 | SCN5A | c.5265C>T (p.Ile1755=) c.5268C>T (p.Ile1756=) c.5214C>T (p.Ile1738=) c.5106C>T (p.Ile1702=) c.5169C>T (p.Ile1723=) c.5139C>T (p.Ile1713=) c.5211C>T (p.Ile1737=) | |
| 3 | g.38551104G>C | CA352141714 | SCN5A | c.5265C>G (p.Ile1755Met) c.5268C>G (p.Ile1756Met) c.5214C>G (p.Ile1738Met) c.5106C>G (p.Ile1702Met) c.5169C>G (p.Ile1723Met) c.5139C>G (p.Ile1713Met) c.5211C>G (p.Ile1737Met) | gnomAD v4 |
| 3 | g.38551104G>T | CA433332155 | SCN5A | c.5265C>A (p.Ile1755=) c.5268C>A (p.Ile1756=) c.5214C>A (p.Ile1738=) c.5106C>A (p.Ile1702=) c.5169C>A (p.Ile1723=) c.5139C>A (p.Ile1713=) c.5211C>A (p.Ile1737=) | gnomAD v4 |
| 3 | g.38551105A>C | CA352141715 | SCN5A | c.5264T>G (p.Ile1755Ser) c.5267T>G (p.Ile1756Ser) c.5213T>G (p.Ile1738Ser) c.5105T>G (p.Ile1702Ser) c.5168T>G (p.Ile1723Ser) c.5138T>G (p.Ile1713Ser) c.5210T>G (p.Ile1737Ser) | |
| 3 | g.38551105A>G | CA352141716 | SCN5A | c.5264T>C (p.Ile1755Thr) c.5267T>C (p.Ile1756Thr) c.5213T>C (p.Ile1738Thr) c.5105T>C (p.Ile1702Thr) c.5168T>C (p.Ile1723Thr) c.5138T>C (p.Ile1713Thr) c.5210T>C (p.Ile1737Thr) | |
| 3 | g.38551105A>T | CA352141717 | SCN5A | c.5264T>A (p.Ile1755Asn) c.5267T>A (p.Ile1756Asn) c.5213T>A (p.Ile1738Asn) c.5105T>A (p.Ile1702Asn) c.5168T>A (p.Ile1723Asn) c.5138T>A (p.Ile1713Asn) c.5210T>A (p.Ile1737Asn) | |
| 3 | g.38551106T>A | CA352141719 | SCN5A | c.5263A>T (p.Ile1755Phe) c.5266A>T (p.Ile1756Phe) c.5212A>T (p.Ile1738Phe) c.5104A>T (p.Ile1702Phe) c.5167A>T (p.Ile1723Phe) c.5137A>T (p.Ile1713Phe) c.5209A>T (p.Ile1737Phe) | |
| 3 | g.38551106T>C | CA352141720 | SCN5A | c.5263A>G (p.Ile1755Val) c.5266A>G (p.Ile1756Val) c.5212A>G (p.Ile1738Val) c.5104A>G (p.Ile1702Val) c.5167A>G (p.Ile1723Val) c.5137A>G (p.Ile1713Val) c.5209A>G (p.Ile1737Val) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551106T>G | CA352141722 | SCN5A | c.5263A>C (p.Ile1755Leu) c.5266A>C (p.Ile1756Leu) c.5212A>C (p.Ile1738Leu) c.5104A>C (p.Ile1702Leu) c.5167A>C (p.Ile1723Leu) c.5137A>C (p.Ile1713Leu) c.5209A>C (p.Ile1737Leu) | |
| 3 | g.38551106T= | CA1358557353 | SCN5A | c.5263A= (p.Ile1755=) c.5266A= (p.Ile1756=) c.5212A= (p.Ile1738=) c.5104A= (p.Ile1702=) c.5167A= (p.Ile1723=) c.5137A= (p.Ile1713=) c.5209A= (p.Ile1737=) | |
| 3 | g.38551107G>A | CA433332159 | SCN5A | c.5262C>T (p.Tyr1754=) c.5265C>T (p.Tyr1755=) c.5211C>T (p.Tyr1737=) c.5103C>T (p.Tyr1701=) c.5166C>T (p.Tyr1722=) c.5136C>T (p.Tyr1712=) c.5208C>T (p.Tyr1736=) | ClinVar dbSNP |
| 3 | g.38551107G>C | CA352141724 | SCN5A | c.5262C>G (p.Tyr1754Ter) c.5265C>G (p.Tyr1755Ter) c.5211C>G (p.Tyr1737Ter) c.5103C>G (p.Tyr1701Ter) c.5166C>G (p.Tyr1722Ter) c.5136C>G (p.Tyr1712Ter) c.5208C>G (p.Tyr1736Ter) | |
| 3 | g.38551107G>T | CA352141726 | SCN5A | c.5262C>A (p.Tyr1754Ter) c.5265C>A (p.Tyr1755Ter) c.5211C>A (p.Tyr1737Ter) c.5103C>A (p.Tyr1701Ter) c.5166C>A (p.Tyr1722Ter) c.5136C>A (p.Tyr1712Ter) c.5208C>A (p.Tyr1736Ter) | |
| 3 | g.38551108T>A | CA352141731 | SCN5A | c.5261A>T (p.Tyr1754Phe) c.5264A>T (p.Tyr1755Phe) c.5210A>T (p.Tyr1737Phe) c.5102A>T (p.Tyr1701Phe) c.5165A>T (p.Tyr1722Phe) c.5135A>T (p.Tyr1712Phe) c.5207A>T (p.Tyr1736Phe) | |
| 3 | g.38551108T>C | CA352141730 | SCN5A | c.5261A>G (p.Tyr1754Cys) c.5264A>G (p.Tyr1755Cys) c.5210A>G (p.Tyr1737Cys) c.5102A>G (p.Tyr1701Cys) c.5165A>G (p.Tyr1722Cys) c.5135A>G (p.Tyr1712Cys) c.5207A>G (p.Tyr1736Cys) | ClinVar |
| 3 | g.38551108T>G | CA352141728 | SCN5A | c.5261A>C (p.Tyr1754Ser) c.5264A>C (p.Tyr1755Ser) c.5210A>C (p.Tyr1737Ser) c.5102A>C (p.Tyr1701Ser) c.5165A>C (p.Tyr1722Ser) c.5135A>C (p.Tyr1712Ser) c.5207A>C (p.Tyr1736Ser) | |
| 3 | g.38551108dup | CA2586965806 | SCN5A | c.5261dup (p.Tyr1754Ter) c.5264dup (p.Tyr1755Ter) c.5210dup (p.Tyr1737Ter) c.5102dup (p.Tyr1701Ter) c.5165dup (p.Tyr1722Ter) c.5135dup (p.Tyr1712Ter) c.5207dup (p.Tyr1736Ter) | |
| 3 | g.38551109A>C | CA352141732 | SCN5A | c.5260T>G (p.Tyr1754Asp) c.5263T>G (p.Tyr1755Asp) c.5209T>G (p.Tyr1737Asp) c.5101T>G (p.Tyr1701Asp) c.5164T>G (p.Tyr1722Asp) c.5134T>G (p.Tyr1712Asp) c.5206T>G (p.Tyr1736Asp) | |
| 3 | g.38551109A>G | CA352141733 | SCN5A | c.5260T>C (p.Tyr1754His) c.5263T>C (p.Tyr1755His) c.5209T>C (p.Tyr1737His) c.5101T>C (p.Tyr1701His) c.5164T>C (p.Tyr1722His) c.5134T>C (p.Tyr1712His) c.5206T>C (p.Tyr1736His) | COSMIC COSMIC COSMIC |
| 3 | g.38551109A>T | CA352141735 | SCN5A | c.5260T>A (p.Tyr1754Asn) c.5263T>A (p.Tyr1755Asn) c.5209T>A (p.Tyr1737Asn) c.5101T>A (p.Tyr1701Asn) c.5164T>A (p.Tyr1722Asn) c.5134T>A (p.Tyr1712Asn) c.5206T>A (p.Tyr1736Asn) | |
| 3 | g.38551110G>A | CA433332169 | SCN5A | c.5259C>T (p.Thr1753=) c.5262C>T (p.Thr1754=) c.5208C>T (p.Thr1736=) c.5100C>T (p.Thr1700=) c.5163C>T (p.Thr1721=) c.5133C>T (p.Thr1711=) c.5205C>T (p.Thr1735=) | ClinVar dbSNP |
| 3 | g.38551110G>C | CA433332166 | SCN5A | c.5259C>G (p.Thr1753=) c.5262C>G (p.Thr1754=) c.5208C>G (p.Thr1736=) c.5100C>G (p.Thr1700=) c.5163C>G (p.Thr1721=) c.5133C>G (p.Thr1711=) c.5205C>G (p.Thr1735=) | gnomAD v4 |
| 3 | g.38551110G>T | CA433332164 | SCN5A | c.5259C>A (p.Thr1753=) c.5262C>A (p.Thr1754=) c.5208C>A (p.Thr1736=) c.5100C>A (p.Thr1700=) c.5163C>A (p.Thr1721=) c.5133C>A (p.Thr1711=) c.5205C>A (p.Thr1735=) | |
| 3 | g.38551111G>A | CA352141738 | SCN5A | c.5258C>T (p.Thr1753Ile) c.5261C>T (p.Thr1754Ile) c.5207C>T (p.Thr1736Ile) c.5099C>T (p.Thr1700Ile) c.5162C>T (p.Thr1721Ile) c.5132C>T (p.Thr1711Ile) c.5204C>T (p.Thr1735Ile) | ClinVar dbSNP |
| 3 | g.38551111G>C | CA352141739 | SCN5A | c.5258C>G (p.Thr1753Ser) c.5261C>G (p.Thr1754Ser) c.5207C>G (p.Thr1736Ser) c.5099C>G (p.Thr1700Ser) c.5162C>G (p.Thr1721Ser) c.5132C>G (p.Thr1711Ser) c.5204C>G (p.Thr1735Ser) | |
| 3 | g.38551111G>T | CA352141741 | SCN5A | c.5258C>A (p.Thr1753Asn) c.5261C>A (p.Thr1754Asn) c.5207C>A (p.Thr1736Asn) c.5099C>A (p.Thr1700Asn) c.5162C>A (p.Thr1721Asn) c.5132C>A (p.Thr1711Asn) c.5204C>A (p.Thr1735Asn) | |
| 3 | g.38551112T>A | CA10582187 | SCN5A | c.5257A>T (p.Thr1753Ser) c.5260A>T (p.Thr1754Ser) c.5206A>T (p.Thr1736Ser) c.5098A>T (p.Thr1700Ser) c.5161A>T (p.Thr1721Ser) c.5131A>T (p.Thr1711Ser) c.5203A>T (p.Thr1735Ser) | ClinVar dbSNP |
| 3 | g.38551112T>C | CA352141745 | SCN5A | c.5257A>G (p.Thr1753Ala) c.5260A>G (p.Thr1754Ala) c.5206A>G (p.Thr1736Ala) c.5098A>G (p.Thr1700Ala) c.5161A>G (p.Thr1721Ala) c.5131A>G (p.Thr1711Ala) c.5203A>G (p.Thr1735Ala) | |
| 3 | g.38551112T>G | CA352141744 | SCN5A | c.5257A>C (p.Thr1753Pro) c.5260A>C (p.Thr1754Pro) c.5206A>C (p.Thr1736Pro) c.5098A>C (p.Thr1700Pro) c.5161A>C (p.Thr1721Pro) c.5131A>C (p.Thr1711Pro) c.5203A>C (p.Thr1735Pro) | |
| 3 | g.38551112T= | CA1358557356 | SCN5A | c.5257A= (p.Thr1753=) c.5260A= (p.Thr1754=) c.5206A= (p.Thr1736=) c.5098A= (p.Thr1700=) c.5161A= (p.Thr1721=) c.5131A= (p.Thr1711=) c.5203A= (p.Thr1735=) | |
| 3 | g.38551113G>A | CA433332177 | SCN5A | c.5256C>T (p.Thr1752=) c.5259C>T (p.Thr1753=) c.5205C>T (p.Thr1735=) c.5097C>T (p.Thr1699=) c.5160C>T (p.Thr1720=) c.5130C>T (p.Thr1710=) c.5202C>T (p.Thr1734=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551113G>C | CA433332176 | SCN5A | c.5256C>G (p.Thr1752=) c.5259C>G (p.Thr1753=) c.5205C>G (p.Thr1735=) c.5097C>G (p.Thr1699=) c.5160C>G (p.Thr1720=) c.5130C>G (p.Thr1710=) c.5202C>G (p.Thr1734=) | gnomAD v4 |
| 3 | g.38551113G= | CA1358557360 | SCN5A | c.5256C= (p.Thr1752=) c.5259C= (p.Thr1753=) c.5205C= (p.Thr1735=) c.5097C= (p.Thr1699=) c.5160C= (p.Thr1720=) c.5130C= (p.Thr1710=) c.5202C= (p.Thr1734=) | |
| 3 | g.38551113G>T | CA433332175 | SCN5A | c.5256C>A (p.Thr1752=) c.5259C>A (p.Thr1753=) c.5205C>A (p.Thr1735=) c.5097C>A (p.Thr1699=) c.5160C>A (p.Thr1720=) c.5130C>A (p.Thr1710=) c.5202C>A (p.Thr1734=) | |
| 3 | g.38551114G>A | CA352141746 | SCN5A | c.5255C>T (p.Thr1752Ile) c.5258C>T (p.Thr1753Ile) c.5204C>T (p.Thr1735Ile) c.5096C>T (p.Thr1699Ile) c.5159C>T (p.Thr1720Ile) c.5129C>T (p.Thr1710Ile) c.5201C>T (p.Thr1734Ile) | |
| 3 | g.38551114G>C | CA352141748 | SCN5A | c.5255C>G (p.Thr1752Ser) c.5258C>G (p.Thr1753Ser) c.5204C>G (p.Thr1735Ser) c.5096C>G (p.Thr1699Ser) c.5159C>G (p.Thr1720Ser) c.5129C>G (p.Thr1710Ser) c.5201C>G (p.Thr1734Ser) | |
| 3 | g.38551114G>T | CA352141749 | SCN5A | c.5255C>A (p.Thr1752Asn) c.5258C>A (p.Thr1753Asn) c.5204C>A (p.Thr1735Asn) c.5096C>A (p.Thr1699Asn) c.5159C>A (p.Thr1720Asn) c.5129C>A (p.Thr1710Asn) c.5201C>A (p.Thr1734Asn) | |
| 3 | g.38551115T>A | CA352141751 | SCN5A | c.5254A>T (p.Thr1752Ser) c.5257A>T (p.Thr1753Ser) c.5203A>T (p.Thr1735Ser) c.5095A>T (p.Thr1699Ser) c.5158A>T (p.Thr1720Ser) c.5128A>T (p.Thr1710Ser) c.5200A>T (p.Thr1734Ser) | |
| 3 | g.38551115T>C | CA352141753 | SCN5A | c.5254A>G (p.Thr1752Ala) c.5257A>G (p.Thr1753Ala) c.5203A>G (p.Thr1735Ala) c.5095A>G (p.Thr1699Ala) c.5158A>G (p.Thr1720Ala) c.5128A>G (p.Thr1710Ala) c.5200A>G (p.Thr1734Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551115T>G | CA352141755 | SCN5A | c.5254A>C (p.Thr1752Pro) c.5257A>C (p.Thr1753Pro) c.5203A>C (p.Thr1735Pro) c.5095A>C (p.Thr1699Pro) c.5158A>C (p.Thr1720Pro) c.5128A>C (p.Thr1710Pro) c.5200A>C (p.Thr1734Pro) | |
| 3 | g.38551115T= | CA1358557362 | SCN5A | c.5254A= (p.Thr1752=) c.5257A= (p.Thr1753=) c.5203A= (p.Thr1735=) c.5095A= (p.Thr1699=) c.5158A= (p.Thr1720=) c.5128A= (p.Thr1710=) c.5200A= (p.Thr1734=) | |
| 3 | g.38551116G>A | CA72938013 | SCN5A | c.5253C>T (p.Phe1751=) c.5256C>T (p.Phe1752=) c.5202C>T (p.Phe1734=) c.5094C>T (p.Phe1698=) c.5157C>T (p.Phe1719=) c.5127C>T (p.Phe1709=) c.5199C>T (p.Phe1733=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551116G>C | CA352141757 | SCN5A | c.5253C>G (p.Phe1751Leu) c.5256C>G (p.Phe1752Leu) c.5202C>G (p.Phe1734Leu) c.5094C>G (p.Phe1698Leu) c.5157C>G (p.Phe1719Leu) c.5127C>G (p.Phe1709Leu) c.5199C>G (p.Phe1733Leu) | |
| 3 | g.38551116G= | CA1358557369 | SCN5A | c.5253C= (p.Phe1751=) c.5256C= (p.Phe1752=) c.5202C= (p.Phe1734=) c.5094C= (p.Phe1698=) c.5157C= (p.Phe1719=) c.5127C= (p.Phe1709=) c.5199C= (p.Phe1733=) | |
| 3 | g.38551116G>T | CA352141758 | SCN5A | c.5253C>A (p.Phe1751Leu) c.5256C>A (p.Phe1752Leu) c.5202C>A (p.Phe1734Leu) c.5094C>A (p.Phe1698Leu) c.5157C>A (p.Phe1719Leu) c.5127C>A (p.Phe1709Leu) c.5199C>A (p.Phe1733Leu) | |
| 3 | g.38551121_38551123del | CA2580614204 | SCN5A | c.5251_5253del (p.Phe1751del) c.5254_5256del (p.Phe1752del) c.5200_5202del (p.Phe1734del) c.5092_5094del (p.Phe1698del) c.5155_5157del (p.Phe1719del) c.5125_5127del (p.Phe1709del) c.5197_5199del (p.Phe1733del) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551117A>C | CA352141761 | SCN5A | c.5252T>G (p.Phe1751Cys) c.5255T>G (p.Phe1752Cys) c.5201T>G (p.Phe1734Cys) c.5093T>G (p.Phe1698Cys) c.5156T>G (p.Phe1719Cys) c.5126T>G (p.Phe1709Cys) c.5198T>G (p.Phe1733Cys) | |
| 3 | g.38551117A>G | CA352141763 | SCN5A | c.5252T>C (p.Phe1751Ser) c.5255T>C (p.Phe1752Ser) c.5201T>C (p.Phe1734Ser) c.5093T>C (p.Phe1698Ser) c.5156T>C (p.Phe1719Ser) c.5126T>C (p.Phe1709Ser) c.5198T>C (p.Phe1733Ser) | |
| 3 | g.38551117A>T | CA352141765 | SCN5A | c.5252T>A (p.Phe1751Tyr) c.5255T>A (p.Phe1752Tyr) c.5201T>A (p.Phe1734Tyr) c.5093T>A (p.Phe1698Tyr) c.5156T>A (p.Phe1719Tyr) c.5126T>A (p.Phe1709Tyr) c.5198T>A (p.Phe1733Tyr) | |
| 3 | g.38551118A>C | CA352141767 | SCN5A | c.5251T>G (p.Phe1751Val) c.5254T>G (p.Phe1752Val) c.5200T>G (p.Phe1734Val) c.5092T>G (p.Phe1698Val) c.5155T>G (p.Phe1719Val) c.5125T>G (p.Phe1709Val) c.5197T>G (p.Phe1733Val) | ClinVar |
| 3 | g.38551118A>G | CA352141768 | SCN5A | c.5251T>C (p.Phe1751Leu) c.5254T>C (p.Phe1752Leu) c.5200T>C (p.Phe1734Leu) c.5092T>C (p.Phe1698Leu) c.5155T>C (p.Phe1719Leu) c.5125T>C (p.Phe1709Leu) c.5197T>C (p.Phe1733Leu) | |
| 3 | g.38551118A>T | CA352141770 | SCN5A | c.5251T>A (p.Phe1751Ile) c.5254T>A (p.Phe1752Ile) c.5200T>A (p.Phe1734Ile) c.5092T>A (p.Phe1698Ile) c.5155T>A (p.Phe1719Ile) c.5125T>A (p.Phe1709Ile) c.5197T>A (p.Phe1733Ile) | |
| 3 | g.38551119G>A | CA433332193 | SCN5A | c.5250C>T (p.Phe1750=) c.5253C>T (p.Phe1751=) c.5199C>T (p.Phe1733=) c.5091C>T (p.Phe1697=) c.5154C>T (p.Phe1718=) c.5124C>T (p.Phe1708=) c.5196C>T (p.Phe1732=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551119G>C | CA352141773 | SCN5A | c.5250C>G (p.Phe1750Leu) c.5253C>G (p.Phe1751Leu) c.5199C>G (p.Phe1733Leu) c.5091C>G (p.Phe1697Leu) c.5154C>G (p.Phe1718Leu) c.5124C>G (p.Phe1708Leu) c.5196C>G (p.Phe1732Leu) | |
| 3 | g.38551119G= | CA1358557374 | SCN5A | c.5250C= (p.Phe1750=) c.5253C= (p.Phe1751=) c.5199C= (p.Phe1733=) c.5091C= (p.Phe1697=) c.5154C= (p.Phe1718=) c.5124C= (p.Phe1708=) c.5196C= (p.Phe1732=) | |
| 3 | g.38551119G>T | CA352141771 | SCN5A | c.5250C>A (p.Phe1750Leu) c.5253C>A (p.Phe1751Leu) c.5199C>A (p.Phe1733Leu) c.5091C>A (p.Phe1697Leu) c.5154C>A (p.Phe1718Leu) c.5124C>A (p.Phe1708Leu) c.5196C>A (p.Phe1732Leu) | |
| 3 | g.38551120A>C | CA352141774 | SCN5A | c.5249T>G (p.Phe1750Cys) c.5252T>G (p.Phe1751Cys) c.5198T>G (p.Phe1733Cys) c.5090T>G (p.Phe1697Cys) c.5153T>G (p.Phe1718Cys) c.5123T>G (p.Phe1708Cys) c.5195T>G (p.Phe1732Cys) | |
| 3 | g.38551120A>G | CA352141775 | SCN5A | c.5249T>C (p.Phe1750Ser) c.5252T>C (p.Phe1751Ser) c.5198T>C (p.Phe1733Ser) c.5090T>C (p.Phe1697Ser) c.5153T>C (p.Phe1718Ser) c.5123T>C (p.Phe1708Ser) c.5195T>C (p.Phe1732Ser) | |
| 3 | g.38551120A>T | CA352141777 | SCN5A | c.5249T>A (p.Phe1750Tyr) c.5252T>A (p.Phe1751Tyr) c.5198T>A (p.Phe1733Tyr) c.5090T>A (p.Phe1697Tyr) c.5153T>A (p.Phe1718Tyr) c.5123T>A (p.Phe1708Tyr) c.5195T>A (p.Phe1732Tyr) | |
| 3 | g.38551121A>C | CA352141779 | SCN5A | c.5248T>G (p.Phe1750Val) c.5251T>G (p.Phe1751Val) c.5197T>G (p.Phe1733Val) c.5089T>G (p.Phe1697Val) c.5152T>G (p.Phe1718Val) c.5122T>G (p.Phe1708Val) c.5194T>G (p.Phe1732Val) | |
| 3 | g.38551121A>G | CA352141781 | SCN5A | c.5248T>C (p.Phe1750Leu) c.5251T>C (p.Phe1751Leu) c.5197T>C (p.Phe1733Leu) c.5089T>C (p.Phe1697Leu) c.5152T>C (p.Phe1718Leu) c.5122T>C (p.Phe1708Leu) c.5194T>C (p.Phe1732Leu) | |
| 3 | g.38551121A>T | CA352141783 | SCN5A | c.5248T>A (p.Phe1750Ile) c.5251T>A (p.Phe1751Ile) c.5197T>A (p.Phe1733Ile) c.5089T>A (p.Phe1697Ile) c.5152T>A (p.Phe1718Ile) c.5122T>A (p.Phe1708Ile) c.5194T>A (p.Phe1732Ile) | |
| 3 | g.38551122G>A | CA433332202 | SCN5A | c.5247C>T (p.Leu1749=) c.5250C>T (p.Leu1750=) c.5196C>T (p.Leu1732=) c.5088C>T (p.Leu1696=) c.5151C>T (p.Leu1717=) c.5121C>T (p.Leu1707=) c.5193C>T (p.Leu1731=) | |
| 3 | g.38551122G>C | CA433332203 | SCN5A | c.5247C>G (p.Leu1749=) c.5250C>G (p.Leu1750=) c.5196C>G (p.Leu1732=) c.5088C>G (p.Leu1696=) c.5151C>G (p.Leu1717=) c.5121C>G (p.Leu1707=) c.5193C>G (p.Leu1731=) | |
| 3 | g.38551122G>T | CA433332204 | SCN5A | c.5247C>A (p.Leu1749=) c.5250C>A (p.Leu1750=) c.5196C>A (p.Leu1732=) c.5088C>A (p.Leu1696=) c.5151C>A (p.Leu1717=) c.5121C>A (p.Leu1707=) c.5193C>A (p.Leu1731=) | ClinVar |
| 3 | g.38551123A>C | CA352141785 | SCN5A | c.5246T>G (p.Leu1749Arg) c.5249T>G (p.Leu1750Arg) c.5195T>G (p.Leu1732Arg) c.5087T>G (p.Leu1696Arg) c.5150T>G (p.Leu1717Arg) c.5120T>G (p.Leu1707Arg) c.5192T>G (p.Leu1731Arg) | |
| 3 | g.38551123A>G | CA352141789 | SCN5A | c.5246T>C (p.Leu1749Pro) c.5249T>C (p.Leu1750Pro) c.5195T>C (p.Leu1732Pro) c.5087T>C (p.Leu1696Pro) c.5150T>C (p.Leu1717Pro) c.5120T>C (p.Leu1707Pro) c.5192T>C (p.Leu1731Pro) | |
| 3 | g.38551123A>T | CA352141787 | SCN5A | c.5246T>A (p.Leu1749His) c.5249T>A (p.Leu1750His) c.5195T>A (p.Leu1732His) c.5087T>A (p.Leu1696His) c.5150T>A (p.Leu1717His) c.5120T>A (p.Leu1707His) c.5192T>A (p.Leu1731His) | |
| 3 | g.38551124G>A | CA352141791 | SCN5A | c.5245C>T (p.Leu1749Phe) c.5248C>T (p.Leu1750Phe) c.5194C>T (p.Leu1732Phe) c.5086C>T (p.Leu1696Phe) c.5149C>T (p.Leu1717Phe) c.5119C>T (p.Leu1707Phe) c.5191C>T (p.Leu1731Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551124G>C | CA352141793 | SCN5A | c.5245C>G (p.Leu1749Val) c.5248C>G (p.Leu1750Val) c.5194C>G (p.Leu1732Val) c.5086C>G (p.Leu1696Val) c.5149C>G (p.Leu1717Val) c.5119C>G (p.Leu1707Val) c.5191C>G (p.Leu1731Val) | |
| 3 | g.38551124G= | CA1358557377 | SCN5A | c.5245C= (p.Leu1749=) c.5248C= (p.Leu1750=) c.5194C= (p.Leu1732=) c.5086C= (p.Leu1696=) c.5149C= (p.Leu1717=) c.5119C= (p.Leu1707=) c.5191C= (p.Leu1731=) | |
| 3 | g.38551124G>T | CA72938014 | SCN5A | c.5245C>A (p.Leu1749Ile) c.5248C>A (p.Leu1750Ile) c.5194C>A (p.Leu1732Ile) c.5086C>A (p.Leu1696Ile) c.5149C>A (p.Leu1717Ile) c.5119C>A (p.Leu1707Ile) c.5191C>A (p.Leu1731Ile) | dbSNP gnomAD v4 |
| 3 | g.38551125G>A | CA433332209 | SCN5A | c.5244C>T (p.Ile1748=) c.5247C>T (p.Ile1749=) c.5193C>T (p.Ile1731=) c.5085C>T (p.Ile1695=) c.5148C>T (p.Ile1716=) c.5118C>T (p.Ile1706=) c.5190C>T (p.Ile1730=) | |
| 3 | g.38551125G>C | CA352141795 | SCN5A | c.5244C>G (p.Ile1748Met) c.5247C>G (p.Ile1749Met) c.5193C>G (p.Ile1731Met) c.5085C>G (p.Ile1695Met) c.5148C>G (p.Ile1716Met) c.5118C>G (p.Ile1706Met) c.5190C>G (p.Ile1730Met) | |
| 3 | g.38551125G>T | CA433332210 | SCN5A | c.5244C>A (p.Ile1748=) c.5247C>A (p.Ile1749=) c.5193C>A (p.Ile1731=) c.5085C>A (p.Ile1695=) c.5148C>A (p.Ile1716=) c.5118C>A (p.Ile1706=) c.5190C>A (p.Ile1730=) | |
| 3 | g.38551126A>C | CA352141797 | SCN5A | c.5243T>G (p.Ile1748Ser) c.5246T>G (p.Ile1749Ser) c.5192T>G (p.Ile1731Ser) c.5084T>G (p.Ile1695Ser) c.5147T>G (p.Ile1716Ser) c.5117T>G (p.Ile1706Ser) c.5189T>G (p.Ile1730Ser) | |
| 3 | g.38551126A>G | CA352141799 | SCN5A | c.5243T>C (p.Ile1748Thr) c.5246T>C (p.Ile1749Thr) c.5192T>C (p.Ile1731Thr) c.5084T>C (p.Ile1695Thr) c.5147T>C (p.Ile1716Thr) c.5117T>C (p.Ile1706Thr) c.5189T>C (p.Ile1730Thr) | |
| 3 | g.38551126A>T | CA352141801 | SCN5A | c.5243T>A (p.Ile1748Asn) c.5246T>A (p.Ile1749Asn) c.5192T>A (p.Ile1731Asn) c.5084T>A (p.Ile1695Asn) c.5147T>A (p.Ile1716Asn) c.5117T>A (p.Ile1706Asn) c.5189T>A (p.Ile1730Asn) | |
| 3 | g.38551127T>A | CA352141803 | SCN5A | c.5242A>T (p.Ile1748Phe) c.5245A>T (p.Ile1749Phe) c.5191A>T (p.Ile1731Phe) c.5083A>T (p.Ile1695Phe) c.5146A>T (p.Ile1716Phe) c.5116A>T (p.Ile1706Phe) c.5188A>T (p.Ile1730Phe) | |
| 3 | g.38551127T>C | CA352141805 | SCN5A | c.5242A>G (p.Ile1748Val) c.5245A>G (p.Ile1749Val) c.5191A>G (p.Ile1731Val) c.5083A>G (p.Ile1695Val) c.5146A>G (p.Ile1716Val) c.5116A>G (p.Ile1706Val) c.5188A>G (p.Ile1730Val) | dbSNP |
| 3 | g.38551127T>G | CA352141807 | SCN5A | c.5242A>C (p.Ile1748Leu) c.5245A>C (p.Ile1749Leu) c.5191A>C (p.Ile1731Leu) c.5083A>C (p.Ile1695Leu) c.5146A>C (p.Ile1716Leu) c.5116A>C (p.Ile1706Leu) c.5188A>C (p.Ile1730Leu) | |
| 3 | g.38551127T= | CA1358557380 | SCN5A | c.5242A= (p.Ile1748=) c.5245A= (p.Ile1749=) c.5191A= (p.Ile1731=) c.5083A= (p.Ile1695=) c.5146A= (p.Ile1716=) c.5116A= (p.Ile1706=) c.5188A= (p.Ile1730=) | |
| 3 | g.38551128G>A | CA433332217 | SCN5A | c.5241C>T (p.Gly1747=) c.5244C>T (p.Gly1748=) c.5190C>T (p.Gly1730=) c.5082C>T (p.Gly1694=) c.5145C>T (p.Gly1715=) c.5115C>T (p.Gly1705=) c.5187C>T (p.Gly1729=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551128G>C | CA433332219 | SCN5A | c.5241C>G (p.Gly1747=) c.5244C>G (p.Gly1748=) c.5190C>G (p.Gly1730=) c.5082C>G (p.Gly1694=) c.5145C>G (p.Gly1715=) c.5115C>G (p.Gly1705=) c.5187C>G (p.Gly1729=) | |
| 3 | g.38551128G= | CA1358557383 | SCN5A | c.5241C= (p.Gly1747=) c.5244C= (p.Gly1748=) c.5190C= (p.Gly1730=) c.5082C= (p.Gly1694=) c.5145C= (p.Gly1715=) c.5115C= (p.Gly1705=) c.5187C= (p.Gly1729=) | |
| 3 | g.38551128G>T | CA72938018 | SCN5A | c.5241C>A (p.Gly1747=) c.5244C>A (p.Gly1748=) c.5190C>A (p.Gly1730=) c.5082C>A (p.Gly1694=) c.5145C>A (p.Gly1715=) c.5115C>A (p.Gly1705=) c.5187C>A (p.Gly1729=) | dbSNP |
| 3 | g.38551128_38551130del | CA2586965811 | SCN5A | c.5239_5241del (p.Gly1747del) c.5242_5244del (p.Gly1748del) c.5188_5190del (p.Gly1730del) c.5080_5082del (p.Gly1694del) c.5143_5145del (p.Gly1715del) c.5113_5115del (p.Gly1705del) c.5185_5187del (p.Gly1729del) | |
| 3 | g.38551129C>A | CA352141809 | SCN5A | c.5240G>T (p.Gly1747Val) c.5243G>T (p.Gly1748Val) c.5189G>T (p.Gly1730Val) c.5081G>T (p.Gly1694Val) c.5144G>T (p.Gly1715Val) c.5114G>T (p.Gly1705Val) c.5186G>T (p.Gly1729Val) | ClinVar dbSNP |
| 3 | g.38551129C= | CA1358557386 | SCN5A | c.5240G= (p.Gly1747=) c.5243G= (p.Gly1748=) c.5189G= (p.Gly1730=) c.5081G= (p.Gly1694=) c.5144G= (p.Gly1715=) c.5114G= (p.Gly1705=) c.5186G= (p.Gly1729=) | |
| 3 | g.38551129C>G | CA352141811 | SCN5A | c.5240G>C (p.Gly1747Ala) c.5243G>C (p.Gly1748Ala) c.5189G>C (p.Gly1730Ala) c.5081G>C (p.Gly1694Ala) c.5144G>C (p.Gly1715Ala) c.5114G>C (p.Gly1705Ala) c.5186G>C (p.Gly1729Ala) | |
| 3 | g.38551129C>T | CA352141812 | SCN5A | c.5240G>A (p.Gly1747Asp) c.5243G>A (p.Gly1748Asp) c.5189G>A (p.Gly1730Asp) c.5081G>A (p.Gly1694Asp) c.5144G>A (p.Gly1715Asp) c.5114G>A (p.Gly1705Asp) c.5186G>A (p.Gly1729Asp) | dbSNP |
| 3 | g.38551130C>A | CA352141819 | SCN5A | c.5239G>T (p.Gly1747Cys) c.5242G>T (p.Gly1748Cys) c.5188G>T (p.Gly1730Cys) c.5080G>T (p.Gly1694Cys) c.5143G>T (p.Gly1715Cys) c.5113G>T (p.Gly1705Cys) c.5185G>T (p.Gly1729Cys) | |
| 3 | g.38551130C>G | CA352141815 | SCN5A | c.5239G>C (p.Gly1747Arg) c.5242G>C (p.Gly1748Arg) c.5188G>C (p.Gly1730Arg) c.5080G>C (p.Gly1694Arg) c.5143G>C (p.Gly1715Arg) c.5113G>C (p.Gly1705Arg) c.5185G>C (p.Gly1729Arg) | |
| 3 | g.38551130C>T | CA352141817 | SCN5A | c.5239G>A (p.Gly1747Ser) c.5242G>A (p.Gly1748Ser) c.5188G>A (p.Gly1730Ser) c.5080G>A (p.Gly1694Ser) c.5143G>A (p.Gly1715Ser) c.5113G>A (p.Gly1705Ser) c.5185G>A (p.Gly1729Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551131C>A | CA433332225 | SCN5A | c.5238G>T (p.Val1746=) c.5241G>T (p.Val1747=) c.5187G>T (p.Val1729=) c.5079G>T (p.Val1693=) c.5142G>T (p.Val1714=) c.5112G>T (p.Val1704=) c.5184G>T (p.Val1728=) | gnomAD v4 |
| 3 | g.38551131C>G | CA433332228 | SCN5A | c.5238G>C (p.Val1746=) c.5241G>C (p.Val1747=) c.5187G>C (p.Val1729=) c.5079G>C (p.Val1693=) c.5142G>C (p.Val1714=) c.5112G>C (p.Val1704=) c.5184G>C (p.Val1728=) | |
| 3 | g.38551131C>T | CA433332227 | SCN5A | c.5238G>A (p.Val1746=) c.5241G>A (p.Val1747=) c.5187G>A (p.Val1729=) c.5079G>A (p.Val1693=) c.5142G>A (p.Val1714=) c.5112G>A (p.Val1704=) c.5184G>A (p.Val1728=) | ClinVar gnomAD v4 |
| 3 | g.38551132A= | CA1358557390 | SCN5A | c.5237T= (p.Val1746=) c.5240T= (p.Val1747=) c.5186T= (p.Val1729=) c.5078T= (p.Val1693=) c.5141T= (p.Val1714=) c.5111T= (p.Val1704=) c.5183T= (p.Val1728=) | |
| 3 | g.38551132A>C | CA352141820 | SCN5A | c.5237T>G (p.Val1746Gly) c.5240T>G (p.Val1747Gly) c.5186T>G (p.Val1729Gly) c.5078T>G (p.Val1693Gly) c.5141T>G (p.Val1714Gly) c.5111T>G (p.Val1704Gly) c.5183T>G (p.Val1728Gly) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551132A>G | CA352141822 | SCN5A | c.5237T>C (p.Val1746Ala) c.5240T>C (p.Val1747Ala) c.5186T>C (p.Val1729Ala) c.5078T>C (p.Val1693Ala) c.5141T>C (p.Val1714Ala) c.5111T>C (p.Val1704Ala) c.5183T>C (p.Val1728Ala) | |
| 3 | g.38551132A>T | CA352141823 | SCN5A | c.5237T>A (p.Val1746Glu) c.5240T>A (p.Val1747Glu) c.5186T>A (p.Val1729Glu) c.5078T>A (p.Val1693Glu) c.5141T>A (p.Val1714Glu) c.5111T>A (p.Val1704Glu) c.5183T>A (p.Val1728Glu) | |
| 3 | g.38551133C>A | CA352141826 | SCN5A | c.5236G>T (p.Val1746Leu) c.5239G>T (p.Val1747Leu) c.5185G>T (p.Val1729Leu) c.5077G>T (p.Val1693Leu) c.5140G>T (p.Val1714Leu) c.5110G>T (p.Val1704Leu) c.5182G>T (p.Val1728Leu) | ClinVar dbSNP |
| 3 | g.38551133C= | CA1358557394 | SCN5A | c.5236G= (p.Val1746=) c.5239G= (p.Val1747=) c.5185G= (p.Val1729=) c.5077G= (p.Val1693=) c.5140G= (p.Val1714=) c.5110G= (p.Val1704=) c.5182G= (p.Val1728=) | |
| 3 | g.38551133C>G | CA352141828 | SCN5A | c.5236G>C (p.Val1746Leu) c.5239G>C (p.Val1747Leu) c.5185G>C (p.Val1729Leu) c.5077G>C (p.Val1693Leu) c.5140G>C (p.Val1714Leu) c.5110G>C (p.Val1704Leu) c.5182G>C (p.Val1728Leu) | gnomAD v4 |
| 3 | g.38551133C>T | CA019040 | SCN5A | c.5236G>A (p.Val1746Met) c.5239G>A (p.Val1747Met) c.5185G>A (p.Val1729Met) c.5077G>A (p.Val1693Met) c.5140G>A (p.Val1714Met) c.5110G>A (p.Val1704Met) c.5182G>A (p.Val1728Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551134G>A | CA433332238 | SCN5A | c.5235C>T (p.Ala1745=) c.5238C>T (p.Ala1746=) c.5184C>T (p.Ala1728=) c.5076C>T (p.Ala1692=) c.5139C>T (p.Ala1713=) c.5109C>T (p.Ala1703=) c.5181C>T (p.Ala1727=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551134G>C | CA433332239 | SCN5A | c.5235C>G (p.Ala1745=) c.5238C>G (p.Ala1746=) c.5184C>G (p.Ala1728=) c.5076C>G (p.Ala1692=) c.5139C>G (p.Ala1713=) c.5109C>G (p.Ala1703=) c.5181C>G (p.Ala1727=) | |
| 3 | g.38551134G= | CA1358557400 | SCN5A | c.5235C= (p.Ala1745=) c.5238C= (p.Ala1746=) c.5184C= (p.Ala1728=) c.5076C= (p.Ala1692=) c.5139C= (p.Ala1713=) c.5109C= (p.Ala1703=) c.5181C= (p.Ala1727=) | |
| 3 | g.38551134G>T | CA433332240 | SCN5A | c.5235C>A (p.Ala1745=) c.5238C>A (p.Ala1746=) c.5184C>A (p.Ala1728=) c.5076C>A (p.Ala1692=) c.5139C>A (p.Ala1713=) c.5109C>A (p.Ala1703=) c.5181C>A (p.Ala1727=) | |
| 3 | g.38551135G>A | CA064275 | SCN5A | c.5234C>T (p.Ala1745Val) c.5237C>T (p.Ala1746Val) c.5183C>T (p.Ala1728Val) c.5075C>T (p.Ala1692Val) c.5138C>T (p.Ala1713Val) c.5108C>T (p.Ala1703Val) c.5180C>T (p.Ala1727Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551135G>C | CA352141832 | SCN5A | c.5234C>G (p.Ala1745Gly) c.5237C>G (p.Ala1746Gly) c.5183C>G (p.Ala1728Gly) c.5075C>G (p.Ala1692Gly) c.5138C>G (p.Ala1713Gly) c.5108C>G (p.Ala1703Gly) c.5180C>G (p.Ala1727Gly) | |
| 3 | g.38551135G= | CA1358557404 | SCN5A | c.5234C= (p.Ala1745=) c.5237C= (p.Ala1746=) c.5183C= (p.Ala1728=) c.5075C= (p.Ala1692=) c.5138C= (p.Ala1713=) c.5108C= (p.Ala1703=) c.5180C= (p.Ala1727=) | |
| 3 | g.38551135G>T | CA352141833 | SCN5A | c.5234C>A (p.Ala1745Asp) c.5237C>A (p.Ala1746Asp) c.5183C>A (p.Ala1728Asp) c.5075C>A (p.Ala1692Asp) c.5138C>A (p.Ala1713Asp) c.5108C>A (p.Ala1703Asp) c.5180C>A (p.Ala1727Asp) | |
| 3 | g.38551136C>A | CA352141836 | SCN5A | c.5233G>T (p.Ala1745Ser) c.5236G>T (p.Ala1746Ser) c.5182G>T (p.Ala1728Ser) c.5074G>T (p.Ala1692Ser) c.5137G>T (p.Ala1713Ser) c.5107G>T (p.Ala1703Ser) c.5179G>T (p.Ala1727Ser) | |
| 3 | g.38551136C= | CA1358557415 | SCN5A | c.5233G= (p.Ala1745=) c.5236G= (p.Ala1746=) c.5182G= (p.Ala1728=) c.5074G= (p.Ala1692=) c.5137G= (p.Ala1713=) c.5107G= (p.Ala1703=) c.5179G= (p.Ala1727=) | |
| 3 | g.38551136C>G | CA352141837 | SCN5A | c.5233G>C (p.Ala1745Pro) c.5236G>C (p.Ala1746Pro) c.5182G>C (p.Ala1728Pro) c.5074G>C (p.Ala1692Pro) c.5137G>C (p.Ala1713Pro) c.5107G>C (p.Ala1703Pro) c.5179G>C (p.Ala1727Pro) | ClinVar dbSNP |
| 3 | g.38551136C>T | CA019035 | SCN5A | c.5233G>A (p.Ala1745Thr) c.5236G>A (p.Ala1746Thr) c.5182G>A (p.Ala1728Thr) c.5074G>A (p.Ala1692Thr) c.5137G>A (p.Ala1713Thr) c.5107G>A (p.Ala1703Thr) c.5179G>A (p.Ala1727Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551137T>A | CA433332243 | SCN5A | c.5232A>T (p.Pro1744=) c.5235A>T (p.Pro1745=) c.5181A>T (p.Pro1727=) c.5073A>T (p.Pro1691=) c.5136A>T (p.Pro1712=) c.5106A>T (p.Pro1702=) c.5178A>T (p.Pro1726=) | ClinVar |
| 3 | g.38551137T>C | CA433332246 | SCN5A | c.5232A>G (p.Pro1744=) c.5235A>G (p.Pro1745=) c.5181A>G (p.Pro1727=) c.5073A>G (p.Pro1691=) c.5136A>G (p.Pro1712=) c.5106A>G (p.Pro1702=) c.5178A>G (p.Pro1726=) | |
| 3 | g.38551137T>G | CA433332249 | SCN5A | c.5232A>C (p.Pro1744=) c.5235A>C (p.Pro1745=) c.5181A>C (p.Pro1727=) c.5073A>C (p.Pro1691=) c.5136A>C (p.Pro1712=) c.5106A>C (p.Pro1702=) c.5178A>C (p.Pro1726=) | |
| 3 | g.38551138G>A | CA352141840 | SCN5A | c.5231C>T (p.Pro1744Leu) c.5234C>T (p.Pro1745Leu) c.5180C>T (p.Pro1727Leu) c.5072C>T (p.Pro1691Leu) c.5135C>T (p.Pro1712Leu) c.5105C>T (p.Pro1702Leu) c.5177C>T (p.Pro1726Leu) | |
| 3 | g.38551138G>C | CA352141843 | SCN5A | c.5231C>G (p.Pro1744Arg) c.5234C>G (p.Pro1745Arg) c.5180C>G (p.Pro1727Arg) c.5072C>G (p.Pro1691Arg) c.5135C>G (p.Pro1712Arg) c.5105C>G (p.Pro1702Arg) c.5177C>G (p.Pro1726Arg) | |
| 3 | g.38551138G>T | CA352141841 | SCN5A | c.5231C>A (p.Pro1744Gln) c.5234C>A (p.Pro1745Gln) c.5180C>A (p.Pro1727Gln) c.5072C>A (p.Pro1691Gln) c.5135C>A (p.Pro1712Gln) c.5105C>A (p.Pro1702Gln) c.5177C>A (p.Pro1726Gln) | |
| 3 | g.38551139G>A | CA352141846 | SCN5A | c.5230C>T (p.Pro1744Ser) c.5233C>T (p.Pro1745Ser) c.5179C>T (p.Pro1727Ser) c.5071C>T (p.Pro1691Ser) c.5134C>T (p.Pro1712Ser) c.5104C>T (p.Pro1702Ser) c.5176C>T (p.Pro1726Ser) | |
| 3 | g.38551139G>C | CA352141849 | SCN5A | c.5230C>G (p.Pro1744Ala) c.5233C>G (p.Pro1745Ala) c.5179C>G (p.Pro1727Ala) c.5071C>G (p.Pro1691Ala) c.5134C>G (p.Pro1712Ala) c.5104C>G (p.Pro1702Ala) c.5176C>G (p.Pro1726Ala) | ClinVar gnomAD v4 |
| 3 | g.38551139G>T | CA352141847 | SCN5A | c.5230C>A (p.Pro1744Thr) c.5233C>A (p.Pro1745Thr) c.5179C>A (p.Pro1727Thr) c.5071C>A (p.Pro1691Thr) c.5134C>A (p.Pro1712Thr) c.5104C>A (p.Pro1702Thr) c.5176C>A (p.Pro1726Thr) | |
| 3 | g.38551140G>A | CA433332253 | SCN5A | c.5229C>T (p.Ser1743=) c.5232C>T (p.Ser1744=) c.5178C>T (p.Ser1726=) c.5070C>T (p.Ser1690=) c.5133C>T (p.Ser1711=) c.5103C>T (p.Ser1701=) c.5175C>T (p.Ser1725=) | |
| 3 | g.38551140G>C | CA352141851 | SCN5A | c.5229C>G (p.Ser1743Arg) c.5232C>G (p.Ser1744Arg) c.5178C>G (p.Ser1726Arg) c.5070C>G (p.Ser1690Arg) c.5133C>G (p.Ser1711Arg) c.5103C>G (p.Ser1701Arg) c.5175C>G (p.Ser1725Arg) | |
| 3 | g.38551140G>T | CA352141852 | SCN5A | c.5229C>A (p.Ser1743Arg) c.5232C>A (p.Ser1744Arg) c.5178C>A (p.Ser1726Arg) c.5070C>A (p.Ser1690Arg) c.5133C>A (p.Ser1711Arg) c.5103C>A (p.Ser1701Arg) c.5175C>A (p.Ser1725Arg) | |
| 3 | g.38551141C>A | CA019029 | SCN5A | c.5228G>T (p.Ser1743Ile) c.5231G>T (p.Ser1744Ile) c.5177G>T (p.Ser1726Ile) c.5069G>T (p.Ser1690Ile) c.5132G>T (p.Ser1711Ile) c.5102G>T (p.Ser1701Ile) c.5174G>T (p.Ser1725Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551141C= | CA1358557422 | SCN5A | c.5228G= (p.Ser1743=) c.5231G= (p.Ser1744=) c.5177G= (p.Ser1726=) c.5069G= (p.Ser1690=) c.5132G= (p.Ser1711=) c.5102G= (p.Ser1701=) c.5174G= (p.Ser1725=) | |
| 3 | g.38551141C>G | CA352141856 | SCN5A | c.5228G>C (p.Ser1743Thr) c.5231G>C (p.Ser1744Thr) c.5177G>C (p.Ser1726Thr) c.5069G>C (p.Ser1690Thr) c.5132G>C (p.Ser1711Thr) c.5102G>C (p.Ser1701Thr) c.5174G>C (p.Ser1725Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551141C>T | CA352141857 | SCN5A | c.5228G>A (p.Ser1743Asn) c.5231G>A (p.Ser1744Asn) c.5177G>A (p.Ser1726Asn) c.5069G>A (p.Ser1690Asn) c.5132G>A (p.Ser1711Asn) c.5102G>A (p.Ser1701Asn) c.5174G>A (p.Ser1725Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38551142T>A | CA352141860 | SCN5A | c.5227A>T (p.Ser1743Cys) c.5230A>T (p.Ser1744Cys) c.5176A>T (p.Ser1726Cys) c.5068A>T (p.Ser1690Cys) c.5131A>T (p.Ser1711Cys) c.5101A>T (p.Ser1701Cys) c.5173A>T (p.Ser1725Cys) | |
| 3 | g.38551142T>C | CA352141862 | SCN5A | c.5227A>G (p.Ser1743Gly) c.5230A>G (p.Ser1744Gly) c.5176A>G (p.Ser1726Gly) c.5068A>G (p.Ser1690Gly) c.5131A>G (p.Ser1711Gly) c.5101A>G (p.Ser1701Gly) c.5173A>G (p.Ser1725Gly) | |
| 3 | g.38551142T>G | CA352141863 | SCN5A | c.5227A>C (p.Ser1743Arg) c.5230A>C (p.Ser1744Arg) c.5176A>C (p.Ser1726Arg) c.5068A>C (p.Ser1690Arg) c.5131A>C (p.Ser1711Arg) c.5101A>C (p.Ser1701Arg) c.5173A>C (p.Ser1725Arg) | |
| 3 | g.38551143C>A | CA433332259 | SCN5A | c.5226G>T (p.Gly1742=) c.5229G>T (p.Gly1743=) c.5175G>T (p.Gly1725=) c.5067G>T (p.Gly1689=) c.5130G>T (p.Gly1710=) c.5100G>T (p.Gly1700=) c.5172G>T (p.Gly1724=) | dbSNP |
| 3 | g.38551143C= | CA1358557425 | SCN5A | c.5226G= (p.Gly1742=) c.5229G= (p.Gly1743=) c.5175G= (p.Gly1725=) c.5067G= (p.Gly1689=) c.5130G= (p.Gly1710=) c.5100G= (p.Gly1700=) c.5172G= (p.Gly1724=) | |
| 3 | g.38551143C>G | CA433332262 | SCN5A | c.5226G>C (p.Gly1742=) c.5229G>C (p.Gly1743=) c.5175G>C (p.Gly1725=) c.5067G>C (p.Gly1689=) c.5130G>C (p.Gly1710=) c.5100G>C (p.Gly1700=) c.5172G>C (p.Gly1724=) | ClinVar gnomAD v4 |
| 3 | g.38551143C>T | CA72938028 | SCN5A | c.5226G>A (p.Gly1742=) c.5229G>A (p.Gly1743=) c.5175G>A (p.Gly1725=) c.5067G>A (p.Gly1689=) c.5130G>A (p.Gly1710=) c.5100G>A (p.Gly1700=) c.5172G>A (p.Gly1724=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551144C>A | CA352141866 | SCN5A | c.5225G>T (p.Gly1742Val) c.5228G>T (p.Gly1743Val) c.5174G>T (p.Gly1725Val) c.5066G>T (p.Gly1689Val) c.5129G>T (p.Gly1710Val) c.5099G>T (p.Gly1700Val) c.5171G>T (p.Gly1724Val) | |
| 3 | g.38551144C= | CA1358557426 | SCN5A | c.5225G= (p.Gly1742=) c.5228G= (p.Gly1743=) c.5174G= (p.Gly1725=) c.5066G= (p.Gly1689=) c.5129G= (p.Gly1710=) c.5099G= (p.Gly1700=) c.5171G= (p.Gly1724=) | |
| 3 | g.38551144C>G | CA352141868 | SCN5A | c.5225G>C (p.Gly1742Ala) c.5228G>C (p.Gly1743Ala) c.5174G>C (p.Gly1725Ala) c.5066G>C (p.Gly1689Ala) c.5129G>C (p.Gly1710Ala) c.5099G>C (p.Gly1700Ala) c.5171G>C (p.Gly1724Ala) | |
| 3 | g.38551144C>T | CA019022 | SCN5A | c.5225G>A (p.Gly1742Glu) c.5228G>A (p.Gly1743Glu) c.5174G>A (p.Gly1725Glu) c.5066G>A (p.Gly1689Glu) c.5129G>A (p.Gly1710Glu) c.5099G>A (p.Gly1700Glu) c.5171G>A (p.Gly1724Glu) | ClinVar dbSNP |
| 3 | g.38551145C>A | CA352141874 | SCN5A | c.5224G>T (p.Gly1742Trp) c.5227G>T (p.Gly1743Trp) c.5173G>T (p.Gly1725Trp) c.5065G>T (p.Gly1689Trp) c.5128G>T (p.Gly1710Trp) c.5098G>T (p.Gly1700Trp) c.5170G>T (p.Gly1724Trp) | |
| 3 | g.38551145C= | CA1358557430 | SCN5A | c.5224G= (p.Gly1742=) c.5227G= (p.Gly1743=) c.5173G= (p.Gly1725=) c.5065G= (p.Gly1689=) c.5128G= (p.Gly1710=) c.5098G= (p.Gly1700=) c.5170G= (p.Gly1724=) | |
| 3 | g.38551145C>G | CA352141871 | SCN5A | c.5224G>C (p.Gly1742Arg) c.5227G>C (p.Gly1743Arg) c.5173G>C (p.Gly1725Arg) c.5065G>C (p.Gly1689Arg) c.5128G>C (p.Gly1710Arg) c.5098G>C (p.Gly1700Arg) c.5170G>C (p.Gly1724Arg) | |
| 3 | g.38551145C>T | CA019015 | SCN5A | c.5224G>A (p.Gly1742Arg) c.5227G>A (p.Gly1743Arg) c.5173G>A (p.Gly1725Arg) c.5065G>A (p.Gly1689Arg) c.5128G>A (p.Gly1710Arg) c.5098G>A (p.Gly1700Arg) c.5170G>A (p.Gly1724Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551146G>A | CA10582188 | SCN5A | c.5223C>T (p.Cys1741=) c.5226C>T (p.Cys1742=) c.5172C>T (p.Cys1724=) c.5064C>T (p.Cys1688=) c.5127C>T (p.Cys1709=) c.5097C>T (p.Cys1699=) c.5169C>T (p.Cys1723=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551146G>C | CA352141876 | SCN5A | c.5223C>G (p.Cys1741Trp) c.5226C>G (p.Cys1742Trp) c.5172C>G (p.Cys1724Trp) c.5064C>G (p.Cys1688Trp) c.5127C>G (p.Cys1709Trp) c.5097C>G (p.Cys1699Trp) c.5169C>G (p.Cys1723Trp) | |
| 3 | g.38551146G= | CA1358557435 | SCN5A | c.5223C= (p.Cys1741=) c.5226C= (p.Cys1742=) c.5172C= (p.Cys1724=) c.5064C= (p.Cys1688=) c.5127C= (p.Cys1709=) c.5097C= (p.Cys1699=) c.5169C= (p.Cys1723=) | |
| 3 | g.38551146G>T | CA352141878 | SCN5A | c.5223C>A (p.Cys1741Ter) c.5226C>A (p.Cys1742Ter) c.5172C>A (p.Cys1724Ter) c.5064C>A (p.Cys1688Ter) c.5127C>A (p.Cys1709Ter) c.5097C>A (p.Cys1699Ter) c.5169C>A (p.Cys1723Ter) | |
| 3 | g.38551147C>A | CA352141880 | SCN5A | c.5222G>T (p.Cys1741Phe) c.5225G>T (p.Cys1742Phe) c.5171G>T (p.Cys1724Phe) c.5063G>T (p.Cys1688Phe) c.5126G>T (p.Cys1709Phe) c.5096G>T (p.Cys1699Phe) c.5168G>T (p.Cys1723Phe) | |
| 3 | g.38551147C>G | CA352141881 | SCN5A | c.5222G>C (p.Cys1741Ser) c.5225G>C (p.Cys1742Ser) c.5171G>C (p.Cys1724Ser) c.5063G>C (p.Cys1688Ser) c.5126G>C (p.Cys1709Ser) c.5096G>C (p.Cys1699Ser) c.5168G>C (p.Cys1723Ser) | |
| 3 | g.38551147C>T | CA352141883 | SCN5A | c.5222G>A (p.Cys1741Tyr) c.5225G>A (p.Cys1742Tyr) c.5171G>A (p.Cys1724Tyr) c.5063G>A (p.Cys1688Tyr) c.5126G>A (p.Cys1709Tyr) c.5096G>A (p.Cys1699Tyr) c.5168G>A (p.Cys1723Tyr) | |
| 3 | g.38551148A>C | CA352141888 | SCN5A | c.5221T>G (p.Cys1741Gly) c.5224T>G (p.Cys1742Gly) c.5170T>G (p.Cys1724Gly) c.5062T>G (p.Cys1688Gly) c.5125T>G (p.Cys1709Gly) c.5095T>G (p.Cys1699Gly) c.5167T>G (p.Cys1723Gly) | |
| 3 | g.38551148A>G | CA352141890 | SCN5A | c.5221T>C (p.Cys1741Arg) c.5224T>C (p.Cys1742Arg) c.5170T>C (p.Cys1724Arg) c.5062T>C (p.Cys1688Arg) c.5125T>C (p.Cys1709Arg) c.5095T>C (p.Cys1699Arg) c.5167T>C (p.Cys1723Arg) | |
| 3 | g.38551148A>T | CA352141892 | SCN5A | c.5221T>A (p.Cys1741Ser) c.5224T>A (p.Cys1742Ser) c.5170T>A (p.Cys1724Ser) c.5062T>A (p.Cys1688Ser) c.5125T>A (p.Cys1709Ser) c.5095T>A (p.Cys1699Ser) c.5167T>A (p.Cys1723Ser) | |
| 3 | g.38551149G>A | CA433332277 | SCN5A | c.5220C>T (p.Asp1740=) c.5223C>T (p.Asp1741=) c.5169C>T (p.Asp1723=) c.5061C>T (p.Asp1687=) c.5124C>T (p.Asp1708=) c.5094C>T (p.Asp1698=) c.5166C>T (p.Asp1722=) | gnomAD v4 |
| 3 | g.38551149G>C | CA352141894 | SCN5A | c.5220C>G (p.Asp1740Glu) c.5223C>G (p.Asp1741Glu) c.5169C>G (p.Asp1723Glu) c.5061C>G (p.Asp1687Glu) c.5124C>G (p.Asp1708Glu) c.5094C>G (p.Asp1698Glu) c.5166C>G (p.Asp1722Glu) | |
| 3 | g.38551149G= | CA1358557437 | SCN5A | c.5220C= (p.Asp1740=) c.5223C= (p.Asp1741=) c.5169C= (p.Asp1723=) c.5061C= (p.Asp1687=) c.5124C= (p.Asp1708=) c.5094C= (p.Asp1698=) c.5166C= (p.Asp1722=) | |
| 3 | g.38551149G>T | CA352141896 | SCN5A | c.5220C>A (p.Asp1740Glu) c.5223C>A (p.Asp1741Glu) c.5169C>A (p.Asp1723Glu) c.5061C>A (p.Asp1687Glu) c.5124C>A (p.Asp1708Glu) c.5094C>A (p.Asp1698Glu) c.5166C>A (p.Asp1722Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38551150T>A | CA352141901 | SCN5A | c.5219A>T (p.Asp1740Val) c.5222A>T (p.Asp1741Val) c.5168A>T (p.Asp1723Val) c.5060A>T (p.Asp1687Val) c.5123A>T (p.Asp1708Val) c.5093A>T (p.Asp1698Val) c.5165A>T (p.Asp1722Val) | |
| 3 | g.38551150T>C | CA352141900 | SCN5A | c.5219A>G (p.Asp1740Gly) c.5222A>G (p.Asp1741Gly) c.5168A>G (p.Asp1723Gly) c.5060A>G (p.Asp1687Gly) c.5123A>G (p.Asp1708Gly) c.5093A>G (p.Asp1698Gly) c.5165A>G (p.Asp1722Gly) | |
| 3 | g.38551150T>G | CA352141898 | SCN5A | c.5219A>C (p.Asp1740Ala) c.5222A>C (p.Asp1741Ala) c.5168A>C (p.Asp1723Ala) c.5060A>C (p.Asp1687Ala) c.5123A>C (p.Asp1708Ala) c.5093A>C (p.Asp1698Ala) c.5165A>C (p.Asp1722Ala) | |
| 3 | g.38551150T= | CA1358557439 | SCN5A | c.5219A= (p.Asp1740=) c.5222A= (p.Asp1741=) c.5168A= (p.Asp1723=) c.5060A= (p.Asp1687=) c.5123A= (p.Asp1708=) c.5093A= (p.Asp1698=) c.5165A= (p.Asp1722=) | |
| 3 | g.38551151C>A | CA019009 | SCN5A | c.5218G>T (p.Asp1740Tyr) c.5221G>T (p.Asp1741Tyr) c.5167G>T (p.Asp1723Tyr) c.5059G>T (p.Asp1687Tyr) c.5122G>T (p.Asp1708Tyr) c.5092G>T (p.Asp1698Tyr) c.5164G>T (p.Asp1722Tyr) | ClinVar dbSNP |
| 3 | g.38551151C= | CA1358557446 | SCN5A | c.5218G= (p.Asp1740=) c.5221G= (p.Asp1741=) c.5167G= (p.Asp1723=) c.5059G= (p.Asp1687=) c.5122G= (p.Asp1708=) c.5092G= (p.Asp1698=) c.5164G= (p.Asp1722=) | |
| 3 | g.38551151C>G | CA352141905 | SCN5A | c.5218G>C (p.Asp1740His) c.5221G>C (p.Asp1741His) c.5167G>C (p.Asp1723His) c.5059G>C (p.Asp1687His) c.5122G>C (p.Asp1708His) c.5092G>C (p.Asp1698His) c.5164G>C (p.Asp1722His) | dbSNP |
| 3 | g.38551151C>T | CA064269 | SCN5A | c.5218G>A (p.Asp1740Asn) c.5221G>A (p.Asp1741Asn) c.5167G>A (p.Asp1723Asn) c.5059G>A (p.Asp1687Asn) c.5122G>A (p.Asp1708Asn) c.5092G>A (p.Asp1698Asn) c.5164G>A (p.Asp1722Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551156dup | CA542615526 | SCN5A | c.5218dup (p.Asp1740GlyfsTer?) c.5221dup (p.Asp1741GlyfsTer?) c.5167dup (p.Asp1723GlyfsTer?) c.5059dup (p.Asp1687GlyfsTer?) c.5122dup (p.Asp1708GlyfsTer?) c.5092dup (p.Asp1698GlyfsTer?) c.5164dup (p.Asp1722GlyfsTer?) | dbSNP gnomAD v2 |
| 3 | g.38551156del | CA645535366 | SCN5A | c.5218del (p.Asp1740ThrfsTer?) c.5221del (p.Asp1741ThrfsTer?) c.5167del (p.Asp1723ThrfsTer?) c.5059del (p.Asp1687ThrfsTer?) c.5122del (p.Asp1708ThrfsTer?) c.5092del (p.Asp1698ThrfsTer?) c.5164del (p.Asp1722ThrfsTer?) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38551154_38551156del | CA2665106746 | SCN5A | c.5216_5218del (p.Gly1739del) c.5219_5221del (p.Gly1740del) c.5165_5167del (p.Gly1722del) c.5057_5059del (p.Gly1686del) c.5120_5122del (p.Gly1707del) c.5090_5092del (p.Gly1697del) c.5162_5164del (p.Gly1721del) | gnomAD v4 |
| 3 | g.38551152C>A | CA433332288 | SCN5A | c.5217G>T (p.Gly1739=) c.5220G>T (p.Gly1740=) c.5166G>T (p.Gly1722=) c.5058G>T (p.Gly1686=) c.5121G>T (p.Gly1707=) c.5091G>T (p.Gly1697=) c.5163G>T (p.Gly1721=) | |
| 3 | g.38551152C= | CA1358557452 | SCN5A | c.5217G= (p.Gly1739=) c.5220G= (p.Gly1740=) c.5166G= (p.Gly1722=) c.5058G= (p.Gly1686=) c.5121G= (p.Gly1707=) c.5091G= (p.Gly1697=) c.5163G= (p.Gly1721=) | |
| 3 | g.38551152C>G | CA433332287 | SCN5A | c.5217G>C (p.Gly1739=) c.5220G>C (p.Gly1740=) c.5166G>C (p.Gly1722=) c.5058G>C (p.Gly1686=) c.5121G>C (p.Gly1707=) c.5091G>C (p.Gly1697=) c.5163G>C (p.Gly1721=) | |
| 3 | g.38551152C>T | CA064264 | SCN5A | c.5217G>A (p.Gly1739=) c.5220G>A (p.Gly1740=) c.5166G>A (p.Gly1722=) c.5058G>A (p.Gly1686=) c.5121G>A (p.Gly1707=) c.5091G>A (p.Gly1697=) c.5163G>A (p.Gly1721=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551153C>A | CA352141909 | SCN5A | c.5216G>T (p.Gly1739Val) c.5219G>T (p.Gly1740Val) c.5165G>T (p.Gly1722Val) c.5057G>T (p.Gly1686Val) c.5120G>T (p.Gly1707Val) c.5090G>T (p.Gly1697Val) c.5162G>T (p.Gly1721Val) | |
| 3 | g.38551153C>G | CA352141911 | SCN5A | c.5216G>C (p.Gly1739Ala) c.5219G>C (p.Gly1740Ala) c.5165G>C (p.Gly1722Ala) c.5057G>C (p.Gly1686Ala) c.5120G>C (p.Gly1707Ala) c.5090G>C (p.Gly1697Ala) c.5162G>C (p.Gly1721Ala) | |
| 3 | g.38551153C>T | CA352141912 | SCN5A | c.5216G>A (p.Gly1739Glu) c.5219G>A (p.Gly1740Glu) c.5165G>A (p.Gly1722Glu) c.5057G>A (p.Gly1686Glu) c.5120G>A (p.Gly1707Glu) c.5090G>A (p.Gly1697Glu) c.5162G>A (p.Gly1721Glu) | ClinVar |
| 3 | g.38551154C>A | CA352141914 | SCN5A | c.5215G>T (p.Gly1739Trp) c.5218G>T (p.Gly1740Trp) c.5164G>T (p.Gly1722Trp) c.5056G>T (p.Gly1686Trp) c.5119G>T (p.Gly1707Trp) c.5089G>T (p.Gly1697Trp) c.5161G>T (p.Gly1721Trp) | |
| 3 | g.38551154C= | CA1358557456 | SCN5A | c.5215G= (p.Gly1739=) c.5218G= (p.Gly1740=) c.5164G= (p.Gly1722=) c.5056G= (p.Gly1686=) c.5119G= (p.Gly1707=) c.5089G= (p.Gly1697=) c.5161G= (p.Gly1721=) | |
| 3 | g.38551154C>G | CA352141917 | SCN5A | c.5215G>C (p.Gly1739Arg) c.5218G>C (p.Gly1740Arg) c.5164G>C (p.Gly1722Arg) c.5056G>C (p.Gly1686Arg) c.5119G>C (p.Gly1707Arg) c.5089G>C (p.Gly1697Arg) c.5161G>C (p.Gly1721Arg) | |
| 3 | g.38551154C>T | CA019005 | SCN5A | c.5215G>A (p.Gly1739Arg) c.5218G>A (p.Gly1740Arg) c.5164G>A (p.Gly1722Arg) c.5056G>A (p.Gly1686Arg) c.5119G>A (p.Gly1707Arg) c.5089G>A (p.Gly1697Arg) c.5161G>A (p.Gly1721Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551155C>A | CA433332291 | SCN5A | c.5214G>T (p.Arg1738=) c.5217G>T (p.Arg1739=) c.5163G>T (p.Arg1721=) c.5055G>T (p.Arg1685=) c.5118G>T (p.Arg1706=) c.5088G>T (p.Arg1696=) c.5160G>T (p.Arg1720=) | |
| 3 | g.38551155C= | CA1358557462 | SCN5A | c.5214G= (p.Arg1738=) c.5217G= (p.Arg1739=) c.5163G= (p.Arg1721=) c.5055G= (p.Arg1685=) c.5118G= (p.Arg1706=) c.5088G= (p.Arg1696=) c.5160G= (p.Arg1720=) | |
| 3 | g.38551155C>G | CA433332290 | SCN5A | c.5214G>C (p.Arg1738=) c.5217G>C (p.Arg1739=) c.5163G>C (p.Arg1721=) c.5055G>C (p.Arg1685=) c.5118G>C (p.Arg1706=) c.5088G>C (p.Arg1696=) c.5160G>C (p.Arg1720=) | dbSNP |
| 3 | g.38551155C>T | CA064259 | SCN5A | c.5214G>A (p.Arg1738=) c.5217G>A (p.Arg1739=) c.5163G>A (p.Arg1721=) c.5055G>A (p.Arg1685=) c.5118G>A (p.Arg1706=) c.5088G>A (p.Arg1696=) c.5160G>A (p.Arg1720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551156C>A | CA352141920 | SCN5A | c.5213G>T (p.Arg1738Leu) c.5216G>T (p.Arg1739Leu) c.5162G>T (p.Arg1721Leu) c.5054G>T (p.Arg1685Leu) c.5117G>T (p.Arg1706Leu) c.5087G>T (p.Arg1696Leu) c.5159G>T (p.Arg1720Leu) | gnomAD v4 |
| 3 | g.38551156C= | CA1358557468 | SCN5A | c.5213G= (p.Arg1738=) c.5216G= (p.Arg1739=) c.5162G= (p.Arg1721=) c.5054G= (p.Arg1685=) c.5117G= (p.Arg1706=) c.5087G= (p.Arg1696=) c.5159G= (p.Arg1720=) | |
| 3 | g.38551156C>G | CA352141921 | SCN5A | c.5213G>C (p.Arg1738Pro) c.5216G>C (p.Arg1739Pro) c.5162G>C (p.Arg1721Pro) c.5054G>C (p.Arg1685Pro) c.5117G>C (p.Arg1706Pro) c.5087G>C (p.Arg1696Pro) c.5159G>C (p.Arg1720Pro) | |
| 3 | g.38551156C>T | CA019000 | SCN5A | c.5213G>A (p.Arg1738Gln) c.5216G>A (p.Arg1739Gln) c.5162G>A (p.Arg1721Gln) c.5054G>A (p.Arg1685Gln) c.5117G>A (p.Arg1706Gln) c.5087G>A (p.Arg1696Gln) c.5159G>A (p.Arg1720Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551157G>A | CA018994 | SCN5A | c.5212C>T (p.Arg1738Trp) c.5215C>T (p.Arg1739Trp) c.5161C>T (p.Arg1721Trp) c.5053C>T (p.Arg1685Trp) c.5116C>T (p.Arg1706Trp) c.5086C>T (p.Arg1696Trp) c.5158C>T (p.Arg1720Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551157G>C | CA352141926 | SCN5A | c.5212C>G (p.Arg1738Gly) c.5215C>G (p.Arg1739Gly) c.5161C>G (p.Arg1721Gly) c.5053C>G (p.Arg1685Gly) c.5116C>G (p.Arg1706Gly) c.5086C>G (p.Arg1696Gly) c.5158C>G (p.Arg1720Gly) | |
| 3 | g.38551157G= | CA1358557478 | SCN5A | c.5212C= (p.Arg1738=) c.5215C= (p.Arg1739=) c.5161C= (p.Arg1721=) c.5053C= (p.Arg1685=) c.5116C= (p.Arg1706=) c.5086C= (p.Arg1696=) c.5158C= (p.Arg1720=) | |
| 3 | g.38551157G>T | CA064248 | SCN5A | c.5212C>A (p.Arg1738=) c.5215C>A (p.Arg1739=) c.5161C>A (p.Arg1721=) c.5053C>A (p.Arg1685=) c.5116C>A (p.Arg1706=) c.5086C>A (p.Arg1696=) c.5158C>A (p.Arg1720=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551158A= | CA1358557480 | SCN5A | c.5211T= (p.Ser1737=) c.5214T= (p.Ser1738=) c.5160T= (p.Ser1720=) c.5052T= (p.Ser1684=) c.5115T= (p.Ser1705=) c.5085T= (p.Ser1695=) c.5157T= (p.Ser1719=) | |
| 3 | g.38551158A>C | CA433332296 | SCN5A | c.5211T>G (p.Ser1737=) c.5214T>G (p.Ser1738=) c.5160T>G (p.Ser1720=) c.5052T>G (p.Ser1684=) c.5115T>G (p.Ser1705=) c.5085T>G (p.Ser1695=) c.5157T>G (p.Ser1719=) | |
| 3 | g.38551158A>G | CA064244 | SCN5A | c.5211T>C (p.Ser1737=) c.5214T>C (p.Ser1738=) c.5160T>C (p.Ser1720=) c.5052T>C (p.Ser1684=) c.5115T>C (p.Ser1705=) c.5085T>C (p.Ser1695=) c.5157T>C (p.Ser1719=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551158A>T | CA433332297 | SCN5A | c.5211T>A (p.Ser1737=) c.5214T>A (p.Ser1738=) c.5160T>A (p.Ser1720=) c.5052T>A (p.Ser1684=) c.5115T>A (p.Ser1705=) c.5085T>A (p.Ser1695=) c.5157T>A (p.Ser1719=) | |
| 3 | g.38551159G>A | CA018989 | SCN5A | c.5210C>T (p.Ser1737Phe) c.5213C>T (p.Ser1738Phe) c.5159C>T (p.Ser1720Phe) c.5051C>T (p.Ser1684Phe) c.5114C>T (p.Ser1705Phe) c.5084C>T (p.Ser1695Phe) c.5156C>T (p.Ser1719Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551159G>C | CA352141930 | SCN5A | c.5210C>G (p.Ser1737Cys) c.5213C>G (p.Ser1738Cys) c.5159C>G (p.Ser1720Cys) c.5051C>G (p.Ser1684Cys) c.5114C>G (p.Ser1705Cys) c.5084C>G (p.Ser1695Cys) c.5156C>G (p.Ser1719Cys) | dbSNP |
| 3 | g.38551159G= | CA1358557487 | SCN5A | c.5210C= (p.Ser1737=) c.5213C= (p.Ser1738=) c.5159C= (p.Ser1720=) c.5051C= (p.Ser1684=) c.5114C= (p.Ser1705=) c.5084C= (p.Ser1695=) c.5156C= (p.Ser1719=) | |
| 3 | g.38551159G>T | CA352141932 | SCN5A | c.5210C>A (p.Ser1737Tyr) c.5213C>A (p.Ser1738Tyr) c.5159C>A (p.Ser1720Tyr) c.5051C>A (p.Ser1684Tyr) c.5114C>A (p.Ser1705Tyr) c.5084C>A (p.Ser1695Tyr) c.5156C>A (p.Ser1719Tyr) | |
| 3 | g.38551160A= | CA1358557492 | SCN5A | c.5209T= (p.Ser1737=) c.5212T= (p.Ser1738=) c.5158T= (p.Ser1720=) c.5050T= (p.Ser1684=) c.5113T= (p.Ser1705=) c.5083T= (p.Ser1695=) c.5155T= (p.Ser1719=) | |
| 3 | g.38551160A>C | CA352141933 | SCN5A | c.5209T>G (p.Ser1737Ala) c.5212T>G (p.Ser1738Ala) c.5158T>G (p.Ser1720Ala) c.5050T>G (p.Ser1684Ala) c.5113T>G (p.Ser1705Ala) c.5083T>G (p.Ser1695Ala) c.5155T>G (p.Ser1719Ala) | |
| 3 | g.38551160A>G | CA352141935 | SCN5A | c.5209T>C (p.Ser1737Pro) c.5212T>C (p.Ser1738Pro) c.5158T>C (p.Ser1720Pro) c.5050T>C (p.Ser1684Pro) c.5113T>C (p.Ser1705Pro) c.5083T>C (p.Ser1695Pro) c.5155T>C (p.Ser1719Pro) | gnomAD v4 |
| 3 | g.38551160A>T | CA064240 | SCN5A | c.5209T>A (p.Ser1737Thr) c.5212T>A (p.Ser1738Thr) c.5158T>A (p.Ser1720Thr) c.5050T>A (p.Ser1684Thr) c.5113T>A (p.Ser1705Thr) c.5083T>A (p.Ser1695Thr) c.5155T>A (p.Ser1719Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551161G>A | CA433332302 | SCN5A | c.5208C>T (p.Gly1736=) c.5211C>T (p.Gly1737=) c.5157C>T (p.Gly1719=) c.5049C>T (p.Gly1683=) c.5112C>T (p.Gly1704=) c.5082C>T (p.Gly1694=) c.5154C>T (p.Gly1718=) | ClinVar gnomAD v4 |
| 3 | g.38551161G>C | CA433332303 | SCN5A | c.5208C>G (p.Gly1736=) c.5211C>G (p.Gly1737=) c.5157C>G (p.Gly1719=) c.5049C>G (p.Gly1683=) c.5112C>G (p.Gly1704=) c.5082C>G (p.Gly1694=) c.5154C>G (p.Gly1718=) | |
| 3 | g.38551161G>T | CA433332304 | SCN5A | c.5208C>A (p.Gly1736=) c.5211C>A (p.Gly1737=) c.5157C>A (p.Gly1719=) c.5049C>A (p.Gly1683=) c.5112C>A (p.Gly1704=) c.5082C>A (p.Gly1694=) c.5154C>A (p.Gly1718=) | |
| 3 | g.38551162C>A | CA352141938 | SCN5A | c.5207G>T (p.Gly1736Val) c.5210G>T (p.Gly1737Val) c.5156G>T (p.Gly1719Val) c.5048G>T (p.Gly1683Val) c.5111G>T (p.Gly1704Val) c.5081G>T (p.Gly1694Val) c.5153G>T (p.Gly1718Val) | |
| 3 | g.38551162C= | CA1358557498 | SCN5A | c.5207G= (p.Gly1736=) c.5210G= (p.Gly1737=) c.5156G= (p.Gly1719=) c.5048G= (p.Gly1683=) c.5111G= (p.Gly1704=) c.5081G= (p.Gly1694=) c.5153G= (p.Gly1718=) | |
| 3 | g.38551162C>G | CA352141940 | SCN5A | c.5207G>C (p.Gly1736Ala) c.5210G>C (p.Gly1737Ala) c.5156G>C (p.Gly1719Ala) c.5048G>C (p.Gly1683Ala) c.5111G>C (p.Gly1704Ala) c.5081G>C (p.Gly1694Ala) c.5153G>C (p.Gly1718Ala) | |
| 3 | g.38551162C>T | CA064236 | SCN5A | c.5207G>A (p.Gly1736Asp) c.5210G>A (p.Gly1737Asp) c.5156G>A (p.Gly1719Asp) c.5048G>A (p.Gly1683Asp) c.5111G>A (p.Gly1704Asp) c.5081G>A (p.Gly1694Asp) c.5153G>A (p.Gly1718Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38551163C>A | CA352141942 | SCN5A | c.5206G>T (p.Gly1736Cys) c.5209G>T (p.Gly1737Cys) c.5155G>T (p.Gly1719Cys) c.5047G>T (p.Gly1683Cys) c.5110G>T (p.Gly1704Cys) c.5080G>T (p.Gly1694Cys) c.5152G>T (p.Gly1718Cys) | |
| 3 | g.38551163C>G | CA352141946 | SCN5A | c.5206G>C (p.Gly1736Arg) c.5209G>C (p.Gly1737Arg) c.5155G>C (p.Gly1719Arg) c.5047G>C (p.Gly1683Arg) c.5110G>C (p.Gly1704Arg) c.5080G>C (p.Gly1694Arg) c.5152G>C (p.Gly1718Arg) | |
| 3 | g.38551163C>T | CA352141944 | SCN5A | c.5206G>A (p.Gly1736Ser) c.5209G>A (p.Gly1737Ser) c.5155G>A (p.Gly1719Ser) c.5047G>A (p.Gly1683Ser) c.5110G>A (p.Gly1704Ser) c.5080G>A (p.Gly1694Ser) c.5152G>A (p.Gly1718Ser) | |
| 3 | g.38551164A= | CA1358557500 | SCN5A | c.5205T= (p.Asn1735=) c.5208T= (p.Asn1736=) c.5154T= (p.Asn1718=) c.5046T= (p.Asn1682=) c.5109T= (p.Asn1703=) c.5079T= (p.Asn1693=) c.5151T= (p.Asn1717=) | |
| 3 | g.38551164A>C | CA352141948 | SCN5A | c.5205T>G (p.Asn1735Lys) c.5208T>G (p.Asn1736Lys) c.5154T>G (p.Asn1718Lys) c.5046T>G (p.Asn1682Lys) c.5109T>G (p.Asn1703Lys) c.5079T>G (p.Asn1693Lys) c.5151T>G (p.Asn1717Lys) | |
| 3 | g.38551164A>G | CA433332308 | SCN5A | c.5205T>C (p.Asn1735=) c.5208T>C (p.Asn1736=) c.5154T>C (p.Asn1718=) c.5046T>C (p.Asn1682=) c.5109T>C (p.Asn1703=) c.5079T>C (p.Asn1693=) c.5151T>C (p.Asn1717=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551164A>T | CA352141949 | SCN5A | c.5205T>A (p.Asn1735Lys) c.5208T>A (p.Asn1736Lys) c.5154T>A (p.Asn1718Lys) c.5046T>A (p.Asn1682Lys) c.5109T>A (p.Asn1703Lys) c.5079T>A (p.Asn1693Lys) c.5151T>A (p.Asn1717Lys) | |
| 3 | g.38551165T>A | CA352141951 | SCN5A | c.5204A>T (p.Asn1735Ile) c.5207A>T (p.Asn1736Ile) c.5153A>T (p.Asn1718Ile) c.5045A>T (p.Asn1682Ile) c.5108A>T (p.Asn1703Ile) c.5078A>T (p.Asn1693Ile) c.5150A>T (p.Asn1717Ile) | |
| 3 | g.38551165T>C | CA352141954 | SCN5A | c.5204A>G (p.Asn1735Ser) c.5207A>G (p.Asn1736Ser) c.5153A>G (p.Asn1718Ser) c.5045A>G (p.Asn1682Ser) c.5108A>G (p.Asn1703Ser) c.5078A>G (p.Asn1693Ser) c.5150A>G (p.Asn1717Ser) | dbSNP |
| 3 | g.38551165T>G | CA352141953 | SCN5A | c.5204A>C (p.Asn1735Thr) c.5207A>C (p.Asn1736Thr) c.5153A>C (p.Asn1718Thr) c.5045A>C (p.Asn1682Thr) c.5108A>C (p.Asn1703Thr) c.5078A>C (p.Asn1693Thr) c.5150A>C (p.Asn1717Thr) | |
| 3 | g.38551165T= | CA1358557502 | SCN5A | c.5204A= (p.Asn1735=) c.5207A= (p.Asn1736=) c.5153A= (p.Asn1718=) c.5045A= (p.Asn1682=) c.5108A= (p.Asn1703=) c.5078A= (p.Asn1693=) c.5150A= (p.Asn1717=) | |
| 3 | g.38551166T>A | CA352141955 | SCN5A | c.5203A>T (p.Asn1735Tyr) c.5206A>T (p.Asn1736Tyr) c.5152A>T (p.Asn1718Tyr) c.5044A>T (p.Asn1682Tyr) c.5107A>T (p.Asn1703Tyr) c.5077A>T (p.Asn1693Tyr) c.5149A>T (p.Asn1717Tyr) | |
| 3 | g.38551166T>C | CA72938064 | SCN5A | c.5203A>G (p.Asn1735Asp) c.5206A>G (p.Asn1736Asp) c.5152A>G (p.Asn1718Asp) c.5044A>G (p.Asn1682Asp) c.5107A>G (p.Asn1703Asp) c.5077A>G (p.Asn1693Asp) c.5149A>G (p.Asn1717Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38551166T>G | CA352141957 | SCN5A | c.5203A>C (p.Asn1735His) c.5206A>C (p.Asn1736His) c.5152A>C (p.Asn1718His) c.5044A>C (p.Asn1682His) c.5107A>C (p.Asn1703His) c.5077A>C (p.Asn1693His) c.5149A>C (p.Asn1717His) | |
| 3 | g.38551166T= | CA1358557504 | SCN5A | c.5203A= (p.Asn1735=) c.5206A= (p.Asn1736=) c.5152A= (p.Asn1718=) c.5044A= (p.Asn1682=) c.5107A= (p.Asn1703=) c.5077A= (p.Asn1693=) c.5149A= (p.Asn1717=) | |
| 3 | g.38551167G>A | CA064224 | SCN5A | c.5202C>T (p.Ser1734=) c.5205C>T (p.Ser1735=) c.5151C>T (p.Ser1717=) c.5043C>T (p.Ser1681=) c.5106C>T (p.Ser1702=) c.5076C>T (p.Ser1692=) c.5148C>T (p.Ser1716=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551167G>C | CA352141960 | SCN5A | c.5202C>G (p.Ser1734Arg) c.5205C>G (p.Ser1735Arg) c.5151C>G (p.Ser1717Arg) c.5043C>G (p.Ser1681Arg) c.5106C>G (p.Ser1702Arg) c.5076C>G (p.Ser1692Arg) c.5148C>G (p.Ser1716Arg) | |
| 3 | g.38551167G= | CA1358557510 | SCN5A | c.5202C= (p.Ser1734=) c.5205C= (p.Ser1735=) c.5151C= (p.Ser1717=) c.5043C= (p.Ser1681=) c.5106C= (p.Ser1702=) c.5076C= (p.Ser1692=) c.5148C= (p.Ser1716=) | |
| 3 | g.38551167G>T | CA352141962 | SCN5A | c.5202C>A (p.Ser1734Arg) c.5205C>A (p.Ser1735Arg) c.5151C>A (p.Ser1717Arg) c.5043C>A (p.Ser1681Arg) c.5106C>A (p.Ser1702Arg) c.5076C>A (p.Ser1692Arg) c.5148C>A (p.Ser1716Arg) | |
| 3 | g.38551168C>A | CA352141964 | SCN5A | c.5201G>T (p.Ser1734Ile) c.5204G>T (p.Ser1735Ile) c.5150G>T (p.Ser1717Ile) c.5042G>T (p.Ser1681Ile) c.5105G>T (p.Ser1702Ile) c.5075G>T (p.Ser1692Ile) c.5147G>T (p.Ser1716Ile) | |
| 3 | g.38551168C= | CA1358557513 | SCN5A | c.5201G= (p.Ser1734=) c.5204G= (p.Ser1735=) c.5150G= (p.Ser1717=) c.5042G= (p.Ser1681=) c.5105G= (p.Ser1702=) c.5075G= (p.Ser1692=) c.5147G= (p.Ser1716=) | |
| 3 | g.38551168C>G | CA352141966 | SCN5A | c.5201G>C (p.Ser1734Thr) c.5204G>C (p.Ser1735Thr) c.5150G>C (p.Ser1717Thr) c.5042G>C (p.Ser1681Thr) c.5105G>C (p.Ser1702Thr) c.5075G>C (p.Ser1692Thr) c.5147G>C (p.Ser1716Thr) | |
| 3 | g.38551168C>T | CA352141968 | SCN5A | c.5201G>A (p.Ser1734Asn) c.5204G>A (p.Ser1735Asn) c.5150G>A (p.Ser1717Asn) c.5042G>A (p.Ser1681Asn) c.5105G>A (p.Ser1702Asn) c.5075G>A (p.Ser1692Asn) c.5147G>A (p.Ser1716Asn) | dbSNP |
| 3 | g.38551169T>A | CA352141969 | SCN5A | c.5200A>T (p.Ser1734Cys) c.5203A>T (p.Ser1735Cys) c.5149A>T (p.Ser1717Cys) c.5041A>T (p.Ser1681Cys) c.5104A>T (p.Ser1702Cys) c.5074A>T (p.Ser1692Cys) c.5146A>T (p.Ser1716Cys) | |
| 3 | g.38551169T>C | CA352141971 | SCN5A | c.5200A>G (p.Ser1734Gly) c.5203A>G (p.Ser1735Gly) c.5149A>G (p.Ser1717Gly) c.5041A>G (p.Ser1681Gly) c.5104A>G (p.Ser1702Gly) c.5074A>G (p.Ser1692Gly) c.5146A>G (p.Ser1716Gly) | |
| 3 | g.38551169T>G | CA352141973 | SCN5A | c.5200A>C (p.Ser1734Arg) c.5203A>C (p.Ser1735Arg) c.5149A>C (p.Ser1717Arg) c.5041A>C (p.Ser1681Arg) c.5104A>C (p.Ser1702Arg) c.5074A>C (p.Ser1692Arg) c.5146A>C (p.Ser1716Arg) | |
| 3 | g.38551170G>A | CA018980 | SCN5A | c.5199C>T (p.Asn1733=) c.5202C>T (p.Asn1734=) c.5148C>T (p.Asn1716=) c.5040C>T (p.Asn1680=) c.5103C>T (p.Asn1701=) c.5073C>T (p.Asn1691=) c.5145C>T (p.Asn1715=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551170G>C | CA352141976 | SCN5A | c.5199C>G (p.Asn1733Lys) c.5202C>G (p.Asn1734Lys) c.5148C>G (p.Asn1716Lys) c.5040C>G (p.Asn1680Lys) c.5103C>G (p.Asn1701Lys) c.5073C>G (p.Asn1691Lys) c.5145C>G (p.Asn1715Lys) | |
| 3 | g.38551170G= | CA1358557519 | SCN5A | c.5199C= (p.Asn1733=) c.5202C= (p.Asn1734=) c.5148C= (p.Asn1716=) c.5040C= (p.Asn1680=) c.5103C= (p.Asn1701=) c.5073C= (p.Asn1691=) c.5145C= (p.Asn1715=) | |
| 3 | g.38551170G>T | CA352141977 | SCN5A | c.5199C>A (p.Asn1733Lys) c.5202C>A (p.Asn1734Lys) c.5148C>A (p.Asn1716Lys) c.5040C>A (p.Asn1680Lys) c.5103C>A (p.Asn1701Lys) c.5073C>A (p.Asn1691Lys) c.5145C>A (p.Asn1715Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551171T>A | CA352141979 | SCN5A | c.5198A>T (p.Asn1733Ile) c.5201A>T (p.Asn1734Ile) c.5147A>T (p.Asn1716Ile) c.5039A>T (p.Asn1680Ile) c.5102A>T (p.Asn1701Ile) c.5072A>T (p.Asn1691Ile) c.5144A>T (p.Asn1715Ile) | |
| 3 | g.38551171T>C | CA352141983 | SCN5A | c.5198A>G (p.Asn1733Ser) c.5201A>G (p.Asn1734Ser) c.5147A>G (p.Asn1716Ser) c.5039A>G (p.Asn1680Ser) c.5102A>G (p.Asn1701Ser) c.5072A>G (p.Asn1691Ser) c.5144A>G (p.Asn1715Ser) | |
| 3 | g.38551171T>G | CA352141981 | SCN5A | c.5198A>C (p.Asn1733Thr) c.5201A>C (p.Asn1734Thr) c.5147A>C (p.Asn1716Thr) c.5039A>C (p.Asn1680Thr) c.5102A>C (p.Asn1701Thr) c.5072A>C (p.Asn1691Thr) c.5144A>C (p.Asn1715Thr) | |
| 3 | g.38551172T>A | CA352141985 | SCN5A | c.5197A>T (p.Asn1733Tyr) c.5200A>T (p.Asn1734Tyr) c.5146A>T (p.Asn1716Tyr) c.5038A>T (p.Asn1680Tyr) c.5101A>T (p.Asn1701Tyr) c.5071A>T (p.Asn1691Tyr) c.5143A>T (p.Asn1715Tyr) | |
| 3 | g.38551172T>C | CA352141987 | SCN5A | c.5197A>G (p.Asn1733Asp) c.5200A>G (p.Asn1734Asp) c.5146A>G (p.Asn1716Asp) c.5038A>G (p.Asn1680Asp) c.5101A>G (p.Asn1701Asp) c.5071A>G (p.Asn1691Asp) c.5143A>G (p.Asn1715Asp) | |
| 3 | g.38551172T>G | CA352141988 | SCN5A | c.5197A>C (p.Asn1733His) c.5200A>C (p.Asn1734His) c.5146A>C (p.Asn1716His) c.5038A>C (p.Asn1680His) c.5101A>C (p.Asn1701His) c.5071A>C (p.Asn1691His) c.5143A>C (p.Asn1715His) | |
| 3 | g.38551173G>A | CA433331809 | SCN5A | c.5196C>T (p.Pro1732=) c.5199C>T (p.Pro1733=) c.5145C>T (p.Pro1715=) c.5037C>T (p.Pro1679=) c.5100C>T (p.Pro1700=) c.5070C>T (p.Pro1690=) c.5142C>T (p.Pro1714=) | |
| 3 | g.38551173G>C | CA433331810 | SCN5A | c.5196C>G (p.Pro1732=) c.5199C>G (p.Pro1733=) c.5145C>G (p.Pro1715=) c.5037C>G (p.Pro1679=) c.5100C>G (p.Pro1700=) c.5070C>G (p.Pro1690=) c.5142C>G (p.Pro1714=) | |
| 3 | g.38551173G>T | CA433331808 | SCN5A | c.5196C>A (p.Pro1732=) c.5199C>A (p.Pro1733=) c.5145C>A (p.Pro1715=) c.5037C>A (p.Pro1679=) c.5100C>A (p.Pro1700=) c.5070C>A (p.Pro1690=) c.5142C>A (p.Pro1714=) | |
| 3 | g.38551174G>A | CA352141989 | SCN5A | c.5195C>T (p.Pro1732Leu) c.5198C>T (p.Pro1733Leu) c.5144C>T (p.Pro1715Leu) c.5036C>T (p.Pro1679Leu) c.5099C>T (p.Pro1700Leu) c.5069C>T (p.Pro1690Leu) c.5141C>T (p.Pro1714Leu) | ClinVar |
| 3 | g.38551174G>C | CA352141990 | SCN5A | c.5195C>G (p.Pro1732Arg) c.5198C>G (p.Pro1733Arg) c.5144C>G (p.Pro1715Arg) c.5036C>G (p.Pro1679Arg) c.5099C>G (p.Pro1700Arg) c.5069C>G (p.Pro1690Arg) c.5141C>G (p.Pro1714Arg) | |
| 3 | g.38551174G>T | CA352141992 | SCN5A | c.5195C>A (p.Pro1732His) c.5198C>A (p.Pro1733His) c.5144C>A (p.Pro1715His) c.5036C>A (p.Pro1679His) c.5099C>A (p.Pro1700His) c.5069C>A (p.Pro1690His) c.5141C>A (p.Pro1714His) | |
| 3 | g.38551175G>A | CA352141994 | SCN5A | c.5194C>T (p.Pro1732Ser) c.5197C>T (p.Pro1733Ser) c.5143C>T (p.Pro1715Ser) c.5035C>T (p.Pro1679Ser) c.5098C>T (p.Pro1700Ser) c.5068C>T (p.Pro1690Ser) c.5140C>T (p.Pro1714Ser) | gnomAD v4 |
| 3 | g.38551175G>C | CA352141996 | SCN5A | c.5194C>G (p.Pro1732Ala) c.5197C>G (p.Pro1733Ala) c.5143C>G (p.Pro1715Ala) c.5035C>G (p.Pro1679Ala) c.5098C>G (p.Pro1700Ala) c.5068C>G (p.Pro1690Ala) c.5140C>G (p.Pro1714Ala) | |
| 3 | g.38551175G= | CA1358557525 | SCN5A | c.5194C= (p.Pro1732=) c.5197C= (p.Pro1733=) c.5143C= (p.Pro1715=) c.5035C= (p.Pro1679=) c.5098C= (p.Pro1700=) c.5068C= (p.Pro1690=) c.5140C= (p.Pro1714=) | |
| 3 | g.38551175G>T | CA352141998 | SCN5A | c.5194C>A (p.Pro1732Thr) c.5197C>A (p.Pro1733Thr) c.5143C>A (p.Pro1715Thr) c.5035C>A (p.Pro1679Thr) c.5098C>A (p.Pro1700Thr) c.5068C>A (p.Pro1690Thr) c.5140C>A (p.Pro1714Thr) | dbSNP |
| 3 | g.38551176C>A | CA433331815 | SCN5A | c.5193G>T (p.Leu1731=) c.5196G>T (p.Leu1732=) c.5142G>T (p.Leu1714=) c.5034G>T (p.Leu1678=) c.5097G>T (p.Leu1699=) c.5067G>T (p.Leu1689=) c.5139G>T (p.Leu1713=) | |
| 3 | g.38551176C>G | CA433331816 | SCN5A | c.5193G>C (p.Leu1731=) c.5196G>C (p.Leu1732=) c.5142G>C (p.Leu1714=) c.5034G>C (p.Leu1678=) c.5097G>C (p.Leu1699=) c.5067G>C (p.Leu1689=) c.5139G>C (p.Leu1713=) | |
| 3 | g.38551176C>T | CA433331818 | SCN5A | c.5193G>A (p.Leu1731=) c.5196G>A (p.Leu1732=) c.5142G>A (p.Leu1714=) c.5034G>A (p.Leu1678=) c.5097G>A (p.Leu1699=) c.5067G>A (p.Leu1689=) c.5139G>A (p.Leu1713=) | |
| 3 | g.38551177A>C | CA352142003 | SCN5A | c.5192T>G (p.Leu1731Arg) c.5195T>G (p.Leu1732Arg) c.5141T>G (p.Leu1714Arg) c.5033T>G (p.Leu1678Arg) c.5096T>G (p.Leu1699Arg) c.5066T>G (p.Leu1689Arg) c.5138T>G (p.Leu1713Arg) | |
| 3 | g.38551177A>G | CA352142001 | SCN5A | c.5192T>C (p.Leu1731Pro) c.5195T>C (p.Leu1732Pro) c.5141T>C (p.Leu1714Pro) c.5033T>C (p.Leu1678Pro) c.5096T>C (p.Leu1699Pro) c.5066T>C (p.Leu1689Pro) c.5138T>C (p.Leu1713Pro) | gnomAD v4 |
| 3 | g.38551177A>T | CA352142000 | SCN5A | c.5192T>A (p.Leu1731Gln) c.5195T>A (p.Leu1732Gln) c.5141T>A (p.Leu1714Gln) c.5033T>A (p.Leu1678Gln) c.5096T>A (p.Leu1699Gln) c.5066T>A (p.Leu1689Gln) c.5138T>A (p.Leu1713Gln) | |
| 3 | g.38551178G>A | CA433331823 | SCN5A | c.5191C>T (p.Leu1731=) c.5194C>T (p.Leu1732=) c.5140C>T (p.Leu1714=) c.5032C>T (p.Leu1678=) c.5095C>T (p.Leu1699=) c.5065C>T (p.Leu1689=) c.5137C>T (p.Leu1713=) | dbSNP |
| 3 | g.38551178G>C | CA352142005 | SCN5A | c.5191C>G (p.Leu1731Val) c.5194C>G (p.Leu1732Val) c.5140C>G (p.Leu1714Val) c.5032C>G (p.Leu1678Val) c.5095C>G (p.Leu1699Val) c.5065C>G (p.Leu1689Val) c.5137C>G (p.Leu1713Val) | |
| 3 | g.38551178G= | CA1358557527 | SCN5A | c.5191C= (p.Leu1731=) c.5194C= (p.Leu1732=) c.5140C= (p.Leu1714=) c.5032C= (p.Leu1678=) c.5095C= (p.Leu1699=) c.5065C= (p.Leu1689=) c.5137C= (p.Leu1713=) | |
| 3 | g.38551178G>T | CA352142006 | SCN5A | c.5191C>A (p.Leu1731Met) c.5194C>A (p.Leu1732Met) c.5140C>A (p.Leu1714Met) c.5032C>A (p.Leu1678Met) c.5095C>A (p.Leu1699Met) c.5065C>A (p.Leu1689Met) c.5137C>A (p.Leu1713Met) | |
| 3 | g.38551179del | CA2524197809 | SCN5A | c.5190del (p.Leu1731CysfsTer?) c.5193del (p.Leu1732CysfsTer?) c.5139del (p.Leu1714CysfsTer?) c.5031del (p.Leu1678CysfsTer?) c.5094del (p.Leu1699CysfsTer?) c.5064del (p.Leu1689CysfsTer?) c.5136del (p.Leu1713CysfsTer?) | |
| 3 | g.38551179A>C | CA433331824 | SCN5A | c.5190T>G (p.Thr1730=) c.5193T>G (p.Thr1731=) c.5139T>G (p.Thr1713=) c.5031T>G (p.Thr1677=) c.5094T>G (p.Thr1698=) c.5064T>G (p.Thr1688=) c.5136T>G (p.Thr1712=) | |
| 3 | g.38551179A>G | CA433331826 | SCN5A | c.5190T>C (p.Thr1730=) c.5193T>C (p.Thr1731=) c.5139T>C (p.Thr1713=) c.5031T>C (p.Thr1677=) c.5094T>C (p.Thr1698=) c.5064T>C (p.Thr1688=) c.5136T>C (p.Thr1712=) | gnomAD v3 gnomAD v4 |
| 3 | g.38551179A>T | CA433331828 | SCN5A | c.5190T>A (p.Thr1730=) c.5193T>A (p.Thr1731=) c.5139T>A (p.Thr1713=) c.5031T>A (p.Thr1677=) c.5094T>A (p.Thr1698=) c.5064T>A (p.Thr1688=) c.5136T>A (p.Thr1712=) | |
| 3 | g.38551180G>A | CA352142008 | SCN5A | c.5189C>T (p.Thr1730Ile) c.5192C>T (p.Thr1731Ile) c.5138C>T (p.Thr1713Ile) c.5030C>T (p.Thr1677Ile) c.5093C>T (p.Thr1698Ile) c.5063C>T (p.Thr1688Ile) c.5135C>T (p.Thr1712Ile) | |
| 3 | g.38551180G>C | CA352142010 | SCN5A | c.5189C>G (p.Thr1730Ser) c.5192C>G (p.Thr1731Ser) c.5138C>G (p.Thr1713Ser) c.5030C>G (p.Thr1677Ser) c.5093C>G (p.Thr1698Ser) c.5063C>G (p.Thr1688Ser) c.5135C>G (p.Thr1712Ser) | |
| 3 | g.38551180G= | CA1358557530 | SCN5A | c.5189C= (p.Thr1730=) c.5192C= (p.Thr1731=) c.5138C= (p.Thr1713=) c.5030C= (p.Thr1677=) c.5093C= (p.Thr1698=) c.5063C= (p.Thr1688=) c.5135C= (p.Thr1712=) | |
| 3 | g.38551180G>T | CA352142011 | SCN5A | c.5189C>A (p.Thr1730Asn) c.5192C>A (p.Thr1731Asn) c.5138C>A (p.Thr1713Asn) c.5030C>A (p.Thr1677Asn) c.5093C>A (p.Thr1698Asn) c.5063C>A (p.Thr1688Asn) c.5135C>A (p.Thr1712Asn) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38551181del | CA433331833 | SCN5A | c.5188del (p.Thr1730LeufsTer?) c.5191del (p.Thr1731LeufsTer?) c.5137del (p.Thr1713LeufsTer?) c.5029del (p.Thr1677LeufsTer?) c.5092del (p.Thr1698LeufsTer?) c.5062del (p.Thr1688LeufsTer?) c.5134del (p.Thr1712LeufsTer?) | COSMIC COSMIC COSMIC |
| 3 | g.38551181T>A | CA352142014 | SCN5A | c.5188A>T (p.Thr1730Ser) c.5191A>T (p.Thr1731Ser) c.5137A>T (p.Thr1713Ser) c.5029A>T (p.Thr1677Ser) c.5092A>T (p.Thr1698Ser) c.5062A>T (p.Thr1688Ser) c.5134A>T (p.Thr1712Ser) | |
| 3 | g.38551181T>C | CA352142015 | SCN5A | c.5188A>G (p.Thr1730Ala) c.5191A>G (p.Thr1731Ala) c.5137A>G (p.Thr1713Ala) c.5029A>G (p.Thr1677Ala) c.5092A>G (p.Thr1698Ala) c.5062A>G (p.Thr1688Ala) c.5134A>G (p.Thr1712Ala) | |
| 3 | g.38551181T>G | CA352142017 | SCN5A | c.5188A>C (p.Thr1730Pro) c.5191A>C (p.Thr1731Pro) c.5137A>C (p.Thr1713Pro) c.5029A>C (p.Thr1677Pro) c.5092A>C (p.Thr1698Pro) c.5062A>C (p.Thr1688Pro) c.5134A>C (p.Thr1712Pro) | ClinVar dbSNP |
| 3 | g.38551181T= | CA1358557536 | SCN5A | c.5188A= (p.Thr1730=) c.5191A= (p.Thr1731=) c.5137A= (p.Thr1713=) c.5029A= (p.Thr1677=) c.5092A= (p.Thr1698=) c.5062A= (p.Thr1688=) c.5134A= (p.Thr1712=) | |
| 3 | g.38551181_38551182delinsTG | CA1358557535 | SCN5A | c.5187_5188delinsCA (p.Pro1729=) c.5190_5191delinsCA (p.Pro1730=) c.5136_5137delinsCA (p.Pro1712=) c.5028_5029delinsCA (p.Pro1676=) c.5091_5092delinsCA (p.Pro1697=) c.5061_5062delinsCA (p.Pro1687=) c.5133_5134delinsCA (p.Pro1711=) | |
| 3 | g.38551182G>A | CA72938070 | SCN5A | c.5187C>T (p.Pro1729=) c.5190C>T (p.Pro1730=) c.5136C>T (p.Pro1712=) c.5028C>T (p.Pro1676=) c.5091C>T (p.Pro1697=) c.5061C>T (p.Pro1687=) c.5133C>T (p.Pro1711=) | dbSNP gnomAD v4 |
| 3 | g.38551182G>C | CA433331837 | SCN5A | c.5187C>G (p.Pro1729=) c.5190C>G (p.Pro1730=) c.5136C>G (p.Pro1712=) c.5028C>G (p.Pro1676=) c.5091C>G (p.Pro1697=) c.5061C>G (p.Pro1687=) c.5133C>G (p.Pro1711=) | |
| 3 | g.38551182G= | CA1358557543 | SCN5A | c.5187C= (p.Pro1729=) c.5190C= (p.Pro1730=) c.5136C= (p.Pro1712=) c.5028C= (p.Pro1676=) c.5091C= (p.Pro1697=) c.5061C= (p.Pro1687=) c.5133C= (p.Pro1711=) | |
| 3 | g.38551182G>T | CA433331840 | SCN5A | c.5187C>A (p.Pro1729=) c.5190C>A (p.Pro1730=) c.5136C>A (p.Pro1712=) c.5028C>A (p.Pro1676=) c.5091C>A (p.Pro1697=) c.5061C>A (p.Pro1687=) c.5133C>A (p.Pro1711=) | |
| 3 | g.38551185del | CA645294025 | SCN5A | c.5187del (p.Thr1730LeufsTer?) c.5190del (p.Thr1731LeufsTer?) c.5136del (p.Thr1713LeufsTer?) c.5028del (p.Thr1677LeufsTer?) c.5091del (p.Thr1698LeufsTer?) c.5061del (p.Thr1688LeufsTer?) c.5133del (p.Thr1712LeufsTer?) | ClinVar dbSNP |
| 3 | g.38551182_38551183insA | CA2523632947 | SCN5A | c.5186_5187insT (p.Thr1730HisfsTer?) c.5189_5190insT (p.Thr1731HisfsTer?) c.5135_5136insT (p.Thr1713HisfsTer?) c.5027_5028insT (p.Thr1677HisfsTer?) c.5090_5091insT (p.Thr1698HisfsTer?) c.5060_5061insT (p.Thr1688HisfsTer?) c.5132_5133insT (p.Thr1712HisfsTer?) | |
| 3 | g.38551183G>A | CA064211 | SCN5A | c.5186C>T (p.Pro1729Leu) c.5189C>T (p.Pro1730Leu) c.5135C>T (p.Pro1712Leu) c.5027C>T (p.Pro1676Leu) c.5090C>T (p.Pro1697Leu) c.5060C>T (p.Pro1687Leu) c.5132C>T (p.Pro1711Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38551183G>C | CA352142021 | SCN5A | c.5186C>G (p.Pro1729Arg) c.5189C>G (p.Pro1730Arg) c.5135C>G (p.Pro1712Arg) c.5027C>G (p.Pro1676Arg) c.5090C>G (p.Pro1697Arg) c.5060C>G (p.Pro1687Arg) c.5132C>G (p.Pro1711Arg) | |
| 3 | g.38551183G= | CA1358557551 | SCN5A | c.5186C= (p.Pro1729=) c.5189C= (p.Pro1730=) c.5135C= (p.Pro1712=) c.5027C= (p.Pro1676=) c.5090C= (p.Pro1697=) c.5060C= (p.Pro1687=) c.5132C= (p.Pro1711=) | |
| 3 | g.38551183G>T | CA352142022 | SCN5A | c.5186C>A (p.Pro1729His) c.5189C>A (p.Pro1730His) c.5135C>A (p.Pro1712His) c.5027C>A (p.Pro1676His) c.5090C>A (p.Pro1697His) c.5060C>A (p.Pro1687His) c.5132C>A (p.Pro1711His) | |
| 3 | g.38551184G>A | CA352142027 | SCN5A | c.5185C>T (p.Pro1729Ser) c.5188C>T (p.Pro1730Ser) c.5134C>T (p.Pro1712Ser) c.5026C>T (p.Pro1676Ser) c.5089C>T (p.Pro1697Ser) c.5059C>T (p.Pro1687Ser) c.5131C>T (p.Pro1711Ser) | |
| 3 | g.38551184G>C | CA064206 | SCN5A | c.5185C>G (p.Pro1729Ala) c.5188C>G (p.Pro1730Ala) c.5134C>G (p.Pro1712Ala) c.5026C>G (p.Pro1676Ala) c.5089C>G (p.Pro1697Ala) c.5059C>G (p.Pro1687Ala) c.5131C>G (p.Pro1711Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38551184G= | CA1358557553 | SCN5A | c.5185C= (p.Pro1729=) c.5188C= (p.Pro1730=) c.5134C= (p.Pro1712=) c.5026C= (p.Pro1676=) c.5089C= (p.Pro1697=) c.5059C= (p.Pro1687=) c.5131C= (p.Pro1711=) | |
| 3 | g.38551184G>T | CA352142025 | SCN5A | c.5185C>A (p.Pro1729Thr) c.5188C>A (p.Pro1730Thr) c.5134C>A (p.Pro1712Thr) c.5026C>A (p.Pro1676Thr) c.5089C>A (p.Pro1697Thr) c.5059C>A (p.Pro1687Thr) c.5131C>A (p.Pro1711Thr) | |
| 3 | g.38551185G>A | CA433331848 | SCN5A | c.5184C>T (p.Asp1728=) c.5187C>T (p.Asp1729=) c.5133C>T (p.Asp1711=) c.5025C>T (p.Asp1675=) c.5088C>T (p.Asp1696=) c.5058C>T (p.Asp1686=) c.5130C>T (p.Asp1710=) | gnomAD v4 |
| 3 | g.38551185G>C | CA352142029 | SCN5A | c.5184C>G (p.Asp1728Glu) c.5187C>G (p.Asp1729Glu) c.5133C>G (p.Asp1711Glu) c.5025C>G (p.Asp1675Glu) c.5088C>G (p.Asp1696Glu) c.5058C>G (p.Asp1686Glu) c.5130C>G (p.Asp1710Glu) | |
| 3 | g.38551185G= | CA1358557556 | SCN5A | c.5184C= (p.Asp1728=) c.5187C= (p.Asp1729=) c.5133C= (p.Asp1711=) c.5025C= (p.Asp1675=) c.5088C= (p.Asp1696=) c.5058C= (p.Asp1686=) c.5130C= (p.Asp1710=) | |
| 3 | g.38551185G>T | CA352142031 | SCN5A | c.5184C>A (p.Asp1728Glu) c.5187C>A (p.Asp1729Glu) c.5133C>A (p.Asp1711Glu) c.5025C>A (p.Asp1675Glu) c.5088C>A (p.Asp1696Glu) c.5058C>A (p.Asp1686Glu) c.5130C>A (p.Asp1710Glu) | dbSNP gnomAD v3 gnomAD v4 |