Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38551082C>ACA019066SCN5Ac.5287G>T (p.Val1763Phe)
c.5290G>T (p.Val1764Phe)
c.5236G>T (p.Val1746Phe)
c.5128G>T (p.Val1710Phe)
c.5191G>T (p.Val1731Phe)
c.5161G>T (p.Val1721Phe)
c.5233G>T (p.Val1745Phe)
 ClinVar dbSNP
3g.38551082C=CA1358557316SCN5Ac.5287G= (p.Val1763=)
c.5290G= (p.Val1764=)
c.5236G= (p.Val1746=)
c.5128G= (p.Val1710=)
c.5191G= (p.Val1731=)
c.5161G= (p.Val1721=)
c.5233G= (p.Val1745=)
3g.38551082C>GCA352141625SCN5Ac.5287G>C (p.Val1763Leu)
c.5290G>C (p.Val1764Leu)
c.5236G>C (p.Val1746Leu)
c.5128G>C (p.Val1710Leu)
c.5191G>C (p.Val1731Leu)
c.5161G>C (p.Val1721Leu)
c.5233G>C (p.Val1745Leu)
 gnomAD v4
3g.38551082C>TCA352141627SCN5Ac.5287G>A (p.Val1763Ile)
c.5290G>A (p.Val1764Ile)
c.5236G>A (p.Val1746Ile)
c.5128G>A (p.Val1710Ile)
c.5191G>A (p.Val1731Ile)
c.5161G>A (p.Val1721Ile)
c.5233G>A (p.Val1745Ile)
3g.38551083delCA2586965791SCN5Ac.5287del (p.Val1763SerfsTer23)
c.5290del (p.Val1764SerfsTer23)
c.5236del (p.Val1746SerfsTer23)
c.5128del (p.Val1710SerfsTer23)
c.5191del (p.Val1731SerfsTer23)
c.5161del (p.Val1721SerfsTer23)
c.5233del (p.Val1745SerfsTer23)
3g.38551083C>ACA433332123SCN5Ac.5286G>T (p.Val1762=)
c.5289G>T (p.Val1763=)
c.5235G>T (p.Val1745=)
c.5127G>T (p.Val1709=)
c.5190G>T (p.Val1730=)
c.5160G>T (p.Val1720=)
c.5232G>T (p.Val1744=)
3g.38551083C>GCA433332122SCN5Ac.5286G>C (p.Val1762=)
c.5289G>C (p.Val1763=)
c.5235G>C (p.Val1745=)
c.5127G>C (p.Val1709=)
c.5190G>C (p.Val1730=)
c.5160G>C (p.Val1720=)
c.5232G>C (p.Val1744=)
3g.38551083C>TCA433332120SCN5Ac.5286G>A (p.Val1762=)
c.5289G>A (p.Val1763=)
c.5235G>A (p.Val1745=)
c.5127G>A (p.Val1709=)
c.5190G>A (p.Val1730=)
c.5160G>A (p.Val1720=)
c.5232G>A (p.Val1744=)
3g.38551084A>CCA352141628SCN5Ac.5285T>G (p.Val1762Gly)
c.5288T>G (p.Val1763Gly)
c.5234T>G (p.Val1745Gly)
c.5126T>G (p.Val1709Gly)
c.5189T>G (p.Val1730Gly)
c.5159T>G (p.Val1720Gly)
c.5231T>G (p.Val1744Gly)
3g.38551084A>GCA352141631SCN5Ac.5285T>C (p.Val1762Ala)
c.5288T>C (p.Val1763Ala)
c.5234T>C (p.Val1745Ala)
c.5126T>C (p.Val1709Ala)
c.5189T>C (p.Val1730Ala)
c.5159T>C (p.Val1720Ala)
c.5231T>C (p.Val1744Ala)
3g.38551084A>TCA352141632SCN5Ac.5285T>A (p.Val1762Glu)
c.5288T>A (p.Val1763Glu)
c.5234T>A (p.Val1745Glu)
c.5126T>A (p.Val1709Glu)
c.5189T>A (p.Val1730Glu)
c.5159T>A (p.Val1720Glu)
c.5231T>A (p.Val1744Glu)
3g.38551085C>ACA352141634SCN5Ac.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)
3g.38551085C=CA1358557319SCN5Ac.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=)
3g.38551085C>GCA352141636SCN5Ac.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)
3g.38551085C>TCA019062SCN5Ac.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
3g.38551086G>ACA064293SCN5Ac.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
3g.38551086G>CCA352141640SCN5Ac.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)
 dbSNP gnomAD v2 gnomAD v4
3g.38551086G=CA1358557327SCN5Ac.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=)
3g.38551086G>TCA064288SCN5Ac.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
3g.38551086_38551087delinsGACA1358557324SCN5Ac.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=)
3g.38551087delCA10588359SCN5Ac.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
3g.38551087A>CCA352141642SCN5Ac.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)
3g.38551087A>GCA352141643SCN5Ac.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)
3g.38551087A>TCA352141645SCN5Ac.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)
3g.38551088T>ACA352141653SCN5Ac.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
3g.38551088T>CCA352141649SCN5Ac.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)
3g.38551088T>GCA352141651SCN5Ac.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)
3g.38551089G>ACA433332132SCN5Ac.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=)
3g.38551089G>CCA433332131SCN5Ac.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=)
3g.38551089G>TCA433332133SCN5Ac.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=)
3g.38551090A=CA1358557331SCN5Ac.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=)
3g.38551090A>CCA352141654SCN5Ac.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)
3g.38551090A>GCA352141656SCN5Ac.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)
3g.38551090A>TCA019056SCN5Ac.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
3g.38551094_38551097delCA2580614202SCN5Ac.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
3g.38551091G>ACA019050SCN5Ac.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
3g.38551091G>CCA352141660SCN5Ac.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)
3g.38551091G=CA1358557335SCN5Ac.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=)
3g.38551091G>TCA352141661SCN5Ac.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)
3g.38551092dupCA2586965795SCN5Ac.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)
3g.38551092G>ACA433332135SCN5Ac.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=)
3g.38551092G>CCA352141663SCN5Ac.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)
3g.38551092G>TCA352141665SCN5Ac.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)
3g.38551093A=CA1358557339SCN5Ac.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=)
3g.38551093A>CCA352141667SCN5Ac.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
3g.38551093A>GCA352141669SCN5Ac.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)
3g.38551093A>TCA352141671SCN5Ac.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)
3g.38551094A>CCA352141676SCN5Ac.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)
3g.38551094A>GCA352141675SCN5Ac.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)
3g.38551094A>TCA352141673SCN5Ac.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)

Number of alleles fetched