Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38551189C>ACA352142049SCN5Ac.5180G>T (p.Cys1727Phe)
c.5183G>T (p.Cys1728Phe)
c.5129G>T (p.Cys1710Phe)
c.5021G>T (p.Cys1674Phe)
c.5084G>T (p.Cys1695Phe)
c.5054G>T (p.Cys1685Phe)
c.5126G>T (p.Cys1709Phe)
3g.38551189C>GCA352142051SCN5Ac.5180G>C (p.Cys1727Ser)
c.5183G>C (p.Cys1728Ser)
c.5129G>C (p.Cys1710Ser)
c.5021G>C (p.Cys1674Ser)
c.5084G>C (p.Cys1695Ser)
c.5054G>C (p.Cys1685Ser)
c.5126G>C (p.Cys1709Ser)
3g.38551189C>TCA352142047SCN5Ac.5180G>A (p.Cys1727Tyr)
c.5183G>A (p.Cys1728Tyr)
c.5129G>A (p.Cys1710Tyr)
c.5021G>A (p.Cys1674Tyr)
c.5084G>A (p.Cys1695Tyr)
c.5054G>A (p.Cys1685Tyr)
c.5126G>A (p.Cys1709Tyr)
3g.38551190A=CA1358557577SCN5Ac.5179T= (p.Cys1727=)
c.5182T= (p.Cys1728=)
c.5128T= (p.Cys1710=)
c.5020T= (p.Cys1674=)
c.5083T= (p.Cys1695=)
c.5053T= (p.Cys1685=)
c.5125T= (p.Cys1709=)
3g.38551190A>CCA352142055SCN5Ac.5179T>G (p.Cys1727Gly)
c.5182T>G (p.Cys1728Gly)
c.5128T>G (p.Cys1710Gly)
c.5020T>G (p.Cys1674Gly)
c.5083T>G (p.Cys1695Gly)
c.5053T>G (p.Cys1685Gly)
c.5125T>G (p.Cys1709Gly)
3g.38551190A>GCA018958SCN5Ac.5179T>C (p.Cys1727Arg)
c.5182T>C (p.Cys1728Arg)
c.5128T>C (p.Cys1710Arg)
c.5020T>C (p.Cys1674Arg)
c.5083T>C (p.Cys1695Arg)
c.5053T>C (p.Cys1685Arg)
c.5125T>C (p.Cys1709Arg)
 ClinVar dbSNP gnomAD v4
3g.38551190A>TCA352142053SCN5Ac.5179T>A (p.Cys1727Ser)
c.5182T>A (p.Cys1728Ser)
c.5128T>A (p.Cys1710Ser)
c.5020T>A (p.Cys1674Ser)
c.5083T>A (p.Cys1695Ser)
c.5053T>A (p.Cys1685Ser)
c.5125T>A (p.Cys1709Ser)
3g.38551191G>ACA433331861SCN5Ac.5178C>T (p.Tyr1726=)
c.5181C>T (p.Tyr1727=)
c.5127C>T (p.Tyr1709=)
c.5019C>T (p.Tyr1673=)
c.5082C>T (p.Tyr1694=)
c.5052C>T (p.Tyr1684=)
c.5124C>T (p.Tyr1708=)
 gnomAD v4
3g.38551191G>CCA352142056SCN5Ac.5178C>G (p.Tyr1726Ter)
c.5181C>G (p.Tyr1727Ter)
c.5127C>G (p.Tyr1709Ter)
c.5019C>G (p.Tyr1673Ter)
c.5082C>G (p.Tyr1694Ter)
c.5052C>G (p.Tyr1684Ter)
c.5124C>G (p.Tyr1708Ter)
3g.38551191G>TCA352142057SCN5Ac.5178C>A (p.Tyr1726Ter)
c.5181C>A (p.Tyr1727Ter)
c.5127C>A (p.Tyr1709Ter)
c.5019C>A (p.Tyr1673Ter)
c.5082C>A (p.Tyr1694Ter)
c.5052C>A (p.Tyr1684Ter)
c.5124C>A (p.Tyr1708Ter)
3g.38551192T>ACA352142058SCN5Ac.5177A>T (p.Tyr1726Phe)
c.5180A>T (p.Tyr1727Phe)
c.5126A>T (p.Tyr1709Phe)
c.5018A>T (p.Tyr1673Phe)
c.5081A>T (p.Tyr1694Phe)
c.5051A>T (p.Tyr1684Phe)
c.5123A>T (p.Tyr1708Phe)
 ClinVar dbSNP gnomAD v4
3g.38551192T>CCA352142059SCN5Ac.5177A>G (p.Tyr1726Cys)
c.5180A>G (p.Tyr1727Cys)
c.5126A>G (p.Tyr1709Cys)
c.5018A>G (p.Tyr1673Cys)
c.5081A>G (p.Tyr1694Cys)
c.5051A>G (p.Tyr1684Cys)
c.5123A>G (p.Tyr1708Cys)
 COSMIC COSMIC COSMIC
3g.38551192T>GCA352142061SCN5Ac.5177A>C (p.Tyr1726Ser)
c.5180A>C (p.Tyr1727Ser)
c.5126A>C (p.Tyr1709Ser)
c.5018A>C (p.Tyr1673Ser)
c.5081A>C (p.Tyr1694Ser)
c.5051A>C (p.Tyr1684Ser)
c.5123A>C (p.Tyr1708Ser)
3g.38551193A>CCA352142063SCN5Ac.5176T>G (p.Tyr1726Asp)
c.5179T>G (p.Tyr1727Asp)
c.5125T>G (p.Tyr1709Asp)
c.5017T>G (p.Tyr1673Asp)
c.5080T>G (p.Tyr1694Asp)
c.5050T>G (p.Tyr1684Asp)
c.5122T>G (p.Tyr1708Asp)
3g.38551193A>GCA352142064SCN5Ac.5176T>C (p.Tyr1726His)
c.5179T>C (p.Tyr1727His)
c.5125T>C (p.Tyr1709His)
c.5017T>C (p.Tyr1673His)
c.5080T>C (p.Tyr1694His)
c.5050T>C (p.Tyr1684His)
c.5122T>C (p.Tyr1708His)
3g.38551193A>TCA352142066SCN5Ac.5176T>A (p.Tyr1726Asn)
c.5179T>A (p.Tyr1727Asn)
c.5125T>A (p.Tyr1709Asn)
c.5017T>A (p.Tyr1673Asn)
c.5080T>A (p.Tyr1694Asn)
c.5050T>A (p.Tyr1684Asn)
c.5122T>A (p.Tyr1708Asn)
3g.38551194G>ACA433331872SCN5Ac.5175C>T (p.Pro1725=)
c.5178C>T (p.Pro1726=)
c.5124C>T (p.Pro1708=)
c.5016C>T (p.Pro1672=)
c.5079C>T (p.Pro1693=)
c.5049C>T (p.Pro1683=)
c.5121C>T (p.Pro1707=)
3g.38551194G>CCA433331871SCN5Ac.5175C>G (p.Pro1725=)
c.5178C>G (p.Pro1726=)
c.5124C>G (p.Pro1708=)
c.5016C>G (p.Pro1672=)
c.5079C>G (p.Pro1693=)
c.5049C>G (p.Pro1683=)
c.5121C>G (p.Pro1707=)
3g.38551194G>TCA433331870SCN5Ac.5175C>A (p.Pro1725=)
c.5178C>A (p.Pro1726=)
c.5124C>A (p.Pro1708=)
c.5016C>A (p.Pro1672=)
c.5079C>A (p.Pro1693=)
c.5049C>A (p.Pro1683=)
c.5121C>A (p.Pro1707=)
3g.38551195G>ACA352142068SCN5Ac.5174C>T (p.Pro1725Leu)
c.5177C>T (p.Pro1726Leu)
c.5123C>T (p.Pro1708Leu)
c.5015C>T (p.Pro1672Leu)
c.5078C>T (p.Pro1693Leu)
c.5048C>T (p.Pro1683Leu)
c.5120C>T (p.Pro1707Leu)
3g.38551195G>CCA352142069SCN5Ac.5174C>G (p.Pro1725Arg)
c.5177C>G (p.Pro1726Arg)
c.5123C>G (p.Pro1708Arg)
c.5015C>G (p.Pro1672Arg)
c.5078C>G (p.Pro1693Arg)
c.5048C>G (p.Pro1683Arg)
c.5120C>G (p.Pro1707Arg)
3g.38551195G>TCA352142071SCN5Ac.5174C>A (p.Pro1725His)
c.5177C>A (p.Pro1726His)
c.5123C>A (p.Pro1708His)
c.5015C>A (p.Pro1672His)
c.5078C>A (p.Pro1693His)
c.5048C>A (p.Pro1683His)
c.5120C>A (p.Pro1707His)
3g.38551196G>ACA352142074SCN5Ac.5173C>T (p.Pro1725Ser)
c.5176C>T (p.Pro1726Ser)
c.5122C>T (p.Pro1708Ser)
c.5014C>T (p.Pro1672Ser)
c.5077C>T (p.Pro1693Ser)
c.5047C>T (p.Pro1683Ser)
c.5119C>T (p.Pro1707Ser)
 ClinVar dbSNP
3g.38551196G>CCA352142077SCN5Ac.5173C>G (p.Pro1725Ala)
c.5176C>G (p.Pro1726Ala)
c.5122C>G (p.Pro1708Ala)
c.5014C>G (p.Pro1672Ala)
c.5077C>G (p.Pro1693Ala)
c.5047C>G (p.Pro1683Ala)
c.5119C>G (p.Pro1707Ala)
3g.38551196G>TCA352142075SCN5Ac.5173C>A (p.Pro1725Thr)
c.5176C>A (p.Pro1726Thr)
c.5122C>A (p.Pro1708Thr)
c.5014C>A (p.Pro1672Thr)
c.5077C>A (p.Pro1693Thr)
c.5047C>A (p.Pro1683Thr)
c.5119C>A (p.Pro1707Thr)
 ClinVar
3g.38551197C>ACA433331881SCN5Ac.5172G>T (p.Pro1724=)
c.5175G>T (p.Pro1725=)
c.5121G>T (p.Pro1707=)
c.5013G>T (p.Pro1671=)
c.5076G>T (p.Pro1692=)
c.5046G>T (p.Pro1682=)
c.5118G>T (p.Pro1706=)
 ClinVar dbSNP gnomAD v4
3g.38551197C=CA1358557586SCN5Ac.5172G= (p.Pro1724=)
c.5175G= (p.Pro1725=)
c.5121G= (p.Pro1707=)
c.5013G= (p.Pro1671=)
c.5076G= (p.Pro1692=)
c.5046G= (p.Pro1682=)
c.5118G= (p.Pro1706=)
3g.38551197C>GCA433331879SCN5Ac.5172G>C (p.Pro1724=)
c.5175G>C (p.Pro1725=)
c.5121G>C (p.Pro1707=)
c.5013G>C (p.Pro1671=)
c.5076G>C (p.Pro1692=)
c.5046G>C (p.Pro1682=)
c.5118G>C (p.Pro1706=)
 ClinVar gnomAD v4
3g.38551197C>TCA064190SCN5Ac.5172G>A (p.Pro1724=)
c.5175G>A (p.Pro1725=)
c.5121G>A (p.Pro1707=)
c.5013G>A (p.Pro1671=)
c.5076G>A (p.Pro1692=)
c.5046G>A (p.Pro1682=)
c.5118G>A (p.Pro1706=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551198G>ACA018953SCN5Ac.5171C>T (p.Pro1724Leu)
c.5174C>T (p.Pro1725Leu)
c.5120C>T (p.Pro1707Leu)
c.5012C>T (p.Pro1671Leu)
c.5075C>T (p.Pro1692Leu)
c.5045C>T (p.Pro1682Leu)
c.5117C>T (p.Pro1706Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551198G>CCA352142082SCN5Ac.5171C>G (p.Pro1724Arg)
c.5174C>G (p.Pro1725Arg)
c.5120C>G (p.Pro1707Arg)
c.5012C>G (p.Pro1671Arg)
c.5075C>G (p.Pro1692Arg)
c.5045C>G (p.Pro1682Arg)
c.5117C>G (p.Pro1706Arg)
3g.38551198G=CA1358557594SCN5Ac.5171C= (p.Pro1724=)
c.5174C= (p.Pro1725=)
c.5120C= (p.Pro1707=)
c.5012C= (p.Pro1671=)
c.5075C= (p.Pro1692=)
c.5045C= (p.Pro1682=)
c.5117C= (p.Pro1706=)
3g.38551198G>TCA352142084SCN5Ac.5171C>A (p.Pro1724Gln)
c.5174C>A (p.Pro1725Gln)
c.5120C>A (p.Pro1707Gln)
c.5012C>A (p.Pro1671Gln)
c.5075C>A (p.Pro1692Gln)
c.5045C>A (p.Pro1682Gln)
c.5117C>A (p.Pro1706Gln)
3g.38551199G>ACA352142086SCN5Ac.5170C>T (p.Pro1724Ser)
c.5173C>T (p.Pro1725Ser)
c.5119C>T (p.Pro1707Ser)
c.5011C>T (p.Pro1671Ser)
c.5074C>T (p.Pro1692Ser)
c.5044C>T (p.Pro1682Ser)
c.5116C>T (p.Pro1706Ser)
3g.38551199G>CCA352142087SCN5Ac.5170C>G (p.Pro1724Ala)
c.5173C>G (p.Pro1725Ala)
c.5119C>G (p.Pro1707Ala)
c.5011C>G (p.Pro1671Ala)
c.5074C>G (p.Pro1692Ala)
c.5044C>G (p.Pro1682Ala)
c.5116C>G (p.Pro1706Ala)
3g.38551199G>TCA352142089SCN5Ac.5170C>A (p.Pro1724Thr)
c.5173C>A (p.Pro1725Thr)
c.5119C>A (p.Pro1707Thr)
c.5011C>A (p.Pro1671Thr)
c.5074C>A (p.Pro1692Thr)
c.5044C>A (p.Pro1682Thr)
c.5116C>A (p.Pro1706Thr)
 COSMIC COSMIC COSMIC
3g.38551200C>ACA433331892SCN5Ac.5169G>T (p.Gly1723=)
c.5172G>T (p.Gly1724=)
c.5118G>T (p.Gly1706=)
c.5010G>T (p.Gly1670=)
c.5073G>T (p.Gly1691=)
c.5043G>T (p.Gly1681=)
c.5115G>T (p.Gly1705=)
3g.38551200C=CA1358557597SCN5Ac.5169G= (p.Gly1723=)
c.5172G= (p.Gly1724=)
c.5118G= (p.Gly1706=)
c.5010G= (p.Gly1670=)
c.5073G= (p.Gly1691=)
c.5043G= (p.Gly1681=)
c.5115G= (p.Gly1705=)
3g.38551200C>GCA433331899SCN5Ac.5169G>C (p.Gly1723=)
c.5172G>C (p.Gly1724=)
c.5118G>C (p.Gly1706=)
c.5010G>C (p.Gly1670=)
c.5073G>C (p.Gly1691=)
c.5043G>C (p.Gly1681=)
c.5115G>C (p.Gly1705=)
3g.38551200C>TCA433331897SCN5Ac.5169G>A (p.Gly1723=)
c.5172G>A (p.Gly1724=)
c.5118G>A (p.Gly1706=)
c.5010G>A (p.Gly1670=)
c.5073G>A (p.Gly1691=)
c.5043G>A (p.Gly1681=)
c.5115G>A (p.Gly1705=)
 ClinVar dbSNP gnomAD v4
3g.38551201C>ACA352142090SCN5Ac.5168G>T (p.Gly1723Val)
c.5171G>T (p.Gly1724Val)
c.5117G>T (p.Gly1706Val)
c.5009G>T (p.Gly1670Val)
c.5072G>T (p.Gly1691Val)
c.5042G>T (p.Gly1681Val)
c.5114G>T (p.Gly1705Val)
3g.38551201C>GCA352142092SCN5Ac.5168G>C (p.Gly1723Ala)
c.5171G>C (p.Gly1724Ala)
c.5117G>C (p.Gly1706Ala)
c.5009G>C (p.Gly1670Ala)
c.5072G>C (p.Gly1691Ala)
c.5042G>C (p.Gly1681Ala)
c.5114G>C (p.Gly1705Ala)
3g.38551201C>TCA352142093SCN5Ac.5168G>A (p.Gly1723Glu)
c.5171G>A (p.Gly1724Glu)
c.5117G>A (p.Gly1706Glu)
c.5009G>A (p.Gly1670Glu)
c.5072G>A (p.Gly1691Glu)
c.5042G>A (p.Gly1681Glu)
c.5114G>A (p.Gly1705Glu)
 gnomAD v4
3g.38551202C>ACA352142096SCN5Ac.5167G>T (p.Gly1723Trp)
c.5170G>T (p.Gly1724Trp)
c.5116G>T (p.Gly1706Trp)
c.5008G>T (p.Gly1670Trp)
c.5071G>T (p.Gly1691Trp)
c.5041G>T (p.Gly1681Trp)
c.5113G>T (p.Gly1705Trp)
3g.38551202C>GCA352142097SCN5Ac.5167G>C (p.Gly1723Arg)
c.5170G>C (p.Gly1724Arg)
c.5116G>C (p.Gly1706Arg)
c.5008G>C (p.Gly1670Arg)
c.5071G>C (p.Gly1691Arg)
c.5041G>C (p.Gly1681Arg)
c.5113G>C (p.Gly1705Arg)
3g.38551202C>TCA352142094SCN5Ac.5167G>A (p.Gly1723Arg)
c.5170G>A (p.Gly1724Arg)
c.5116G>A (p.Gly1706Arg)
c.5008G>A (p.Gly1670Arg)
c.5071G>A (p.Gly1691Arg)
c.5041G>A (p.Gly1681Arg)
c.5113G>A (p.Gly1705Arg)
3g.38551203A=CA1358557600SCN5Ac.5166T= (p.Thr1722=)
c.5169T= (p.Thr1723=)
c.5115T= (p.Thr1705=)
c.5007T= (p.Thr1669=)
c.5070T= (p.Thr1690=)
c.5040T= (p.Thr1680=)
c.5112T= (p.Thr1704=)
3g.38551203A>CCA433331904SCN5Ac.5166T>G (p.Thr1722=)
c.5169T>G (p.Thr1723=)
c.5115T>G (p.Thr1705=)
c.5007T>G (p.Thr1669=)
c.5070T>G (p.Thr1690=)
c.5040T>G (p.Thr1680=)
c.5112T>G (p.Thr1704=)
 ClinVar gnomAD v3 gnomAD v4
3g.38551203A>GCA433331905SCN5Ac.5166T>C (p.Thr1722=)
c.5169T>C (p.Thr1723=)
c.5115T>C (p.Thr1705=)
c.5007T>C (p.Thr1669=)
c.5070T>C (p.Thr1690=)
c.5040T>C (p.Thr1680=)
c.5112T>C (p.Thr1704=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551203A>TCA433331906SCN5Ac.5166T>A (p.Thr1722=)
c.5169T>A (p.Thr1723=)
c.5115T>A (p.Thr1705=)
c.5007T>A (p.Thr1669=)
c.5070T>A (p.Thr1690=)
c.5040T>A (p.Thr1680=)
c.5112T>A (p.Thr1704=)
 gnomAD v4
3g.38551204G>ACA352142100SCN5Ac.5165C>T (p.Thr1722Ile)
c.5168C>T (p.Thr1723Ile)
c.5114C>T (p.Thr1705Ile)
c.5006C>T (p.Thr1669Ile)
c.5069C>T (p.Thr1690Ile)
c.5039C>T (p.Thr1680Ile)
c.5111C>T (p.Thr1704Ile)
3g.38551204G>CCA352142101SCN5Ac.5165C>G (p.Thr1722Ser)
c.5168C>G (p.Thr1723Ser)
c.5114C>G (p.Thr1705Ser)
c.5006C>G (p.Thr1669Ser)
c.5069C>G (p.Thr1690Ser)
c.5039C>G (p.Thr1680Ser)
c.5111C>G (p.Thr1704Ser)
3g.38551204G=CA1358557607SCN5Ac.5165C= (p.Thr1722=)
c.5168C= (p.Thr1723=)
c.5114C= (p.Thr1705=)
c.5006C= (p.Thr1669=)
c.5069C= (p.Thr1690=)
c.5039C= (p.Thr1680=)
c.5111C= (p.Thr1704=)
3g.38551204G>TCA018948SCN5Ac.5165C>A (p.Thr1722Asn)
c.5168C>A (p.Thr1723Asn)
c.5114C>A (p.Thr1705Asn)
c.5006C>A (p.Thr1669Asn)
c.5069C>A (p.Thr1690Asn)
c.5039C>A (p.Thr1680Asn)
c.5111C>A (p.Thr1704Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38551205T>ACA352142103SCN5Ac.5164A>T (p.Thr1722Ser)
c.5167A>T (p.Thr1723Ser)
c.5113A>T (p.Thr1705Ser)
c.5005A>T (p.Thr1669Ser)
c.5068A>T (p.Thr1690Ser)
c.5038A>T (p.Thr1680Ser)
c.5110A>T (p.Thr1704Ser)
3g.38551205T>CCA352142105SCN5Ac.5164A>G (p.Thr1722Ala)
c.5167A>G (p.Thr1723Ala)
c.5113A>G (p.Thr1705Ala)
c.5005A>G (p.Thr1669Ala)
c.5068A>G (p.Thr1690Ala)
c.5038A>G (p.Thr1680Ala)
c.5110A>G (p.Thr1704Ala)
 gnomAD v4
3g.38551205T>GCA352142107SCN5Ac.5164A>C (p.Thr1722Pro)
c.5167A>C (p.Thr1723Pro)
c.5113A>C (p.Thr1705Pro)
c.5005A>C (p.Thr1669Pro)
c.5068A>C (p.Thr1690Pro)
c.5038A>C (p.Thr1680Pro)
c.5110A>C (p.Thr1704Pro)
3g.38551206G>ACA433331910SCN5Ac.5163C>T (p.Asn1721=)
c.5166C>T (p.Asn1722=)
c.5112C>T (p.Asn1704=)
c.5004C>T (p.Asn1668=)
c.5067C>T (p.Asn1689=)
c.5037C>T (p.Asn1679=)
c.5109C>T (p.Asn1703=)
 ClinVar dbSNP
3g.38551206G>CCA352142110SCN5Ac.5163C>G (p.Asn1721Lys)
c.5166C>G (p.Asn1722Lys)
c.5112C>G (p.Asn1704Lys)
c.5004C>G (p.Asn1668Lys)
c.5067C>G (p.Asn1689Lys)
c.5037C>G (p.Asn1679Lys)
c.5109C>G (p.Asn1703Lys)
3g.38551206G=CA1358557617SCN5Ac.5163C= (p.Asn1721=)
c.5166C= (p.Asn1722=)
c.5112C= (p.Asn1704=)
c.5004C= (p.Asn1668=)
c.5067C= (p.Asn1689=)
c.5037C= (p.Asn1679=)
c.5109C= (p.Asn1703=)
3g.38551206G>TCA352142108SCN5Ac.5163C>A (p.Asn1721Lys)
c.5166C>A (p.Asn1722Lys)
c.5112C>A (p.Asn1704Lys)
c.5004C>A (p.Asn1668Lys)
c.5067C>A (p.Asn1689Lys)
c.5037C>A (p.Asn1679Lys)
c.5109C>A (p.Asn1703Lys)
3g.38551207T>ACA352142112SCN5Ac.5162A>T (p.Asn1721Ile)
c.5165A>T (p.Asn1722Ile)
c.5111A>T (p.Asn1704Ile)
c.5003A>T (p.Asn1668Ile)
c.5066A>T (p.Asn1689Ile)
c.5036A>T (p.Asn1679Ile)
c.5108A>T (p.Asn1703Ile)
3g.38551207T>CCA352142114SCN5Ac.5162A>G (p.Asn1721Ser)
c.5165A>G (p.Asn1722Ser)
c.5111A>G (p.Asn1704Ser)
c.5003A>G (p.Asn1668Ser)
c.5066A>G (p.Asn1689Ser)
c.5036A>G (p.Asn1679Ser)
c.5108A>G (p.Asn1703Ser)
3g.38551207T>GCA352142116SCN5Ac.5162A>C (p.Asn1721Thr)
c.5165A>C (p.Asn1722Thr)
c.5111A>C (p.Asn1704Thr)
c.5003A>C (p.Asn1668Thr)
c.5066A>C (p.Asn1689Thr)
c.5036A>C (p.Asn1679Thr)
c.5108A>C (p.Asn1703Thr)
3g.38551208T>ACA352142118SCN5Ac.5161A>T (p.Asn1721Tyr)
c.5164A>T (p.Asn1722Tyr)
c.5110A>T (p.Asn1704Tyr)
c.5002A>T (p.Asn1668Tyr)
c.5065A>T (p.Asn1689Tyr)
c.5035A>T (p.Asn1679Tyr)
c.5107A>T (p.Asn1703Tyr)
3g.38551208T>CCA018943SCN5Ac.5161A>G (p.Asn1721Asp)
c.5164A>G (p.Asn1722Asp)
c.5110A>G (p.Asn1704Asp)
c.5002A>G (p.Asn1668Asp)
c.5065A>G (p.Asn1689Asp)
c.5035A>G (p.Asn1679Asp)
c.5107A>G (p.Asn1703Asp)
 ClinVar dbSNP gnomAD v4
3g.38551208T>GCA352142121SCN5Ac.5161A>C (p.Asn1721His)
c.5164A>C (p.Asn1722His)
c.5110A>C (p.Asn1704His)
c.5002A>C (p.Asn1668His)
c.5065A>C (p.Asn1689His)
c.5035A>C (p.Asn1679His)
c.5107A>C (p.Asn1703His)
3g.38551208T=CA1358557622SCN5Ac.5161A= (p.Asn1721=)
c.5164A= (p.Asn1722=)
c.5110A= (p.Asn1704=)
c.5002A= (p.Asn1668=)
c.5065A= (p.Asn1689=)
c.5035A= (p.Asn1679=)
c.5107A= (p.Asn1703=)
3g.38551209G>ACA433331916SCN5Ac.5160C>T (p.Leu1720=)
c.5163C>T (p.Leu1721=)
c.5109C>T (p.Leu1703=)
c.5001C>T (p.Leu1667=)
c.5064C>T (p.Leu1688=)
c.5034C>T (p.Leu1678=)
c.5106C>T (p.Leu1702=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551209G>CCA433331918SCN5Ac.5160C>G (p.Leu1720=)
c.5163C>G (p.Leu1721=)
c.5109C>G (p.Leu1703=)
c.5001C>G (p.Leu1667=)
c.5064C>G (p.Leu1688=)
c.5034C>G (p.Leu1678=)
c.5106C>G (p.Leu1702=)
3g.38551209G>TCA433331920SCN5Ac.5160C>A (p.Leu1720=)
c.5163C>A (p.Leu1721=)
c.5109C>A (p.Leu1703=)
c.5001C>A (p.Leu1667=)
c.5064C>A (p.Leu1688=)
c.5034C>A (p.Leu1678=)
c.5106C>A (p.Leu1702=)
3g.38551210A>CCA352142123SCN5Ac.5159T>G (p.Leu1720Arg)
c.5162T>G (p.Leu1721Arg)
c.5108T>G (p.Leu1703Arg)
c.5000T>G (p.Leu1667Arg)
c.5063T>G (p.Leu1688Arg)
c.5033T>G (p.Leu1678Arg)
c.5105T>G (p.Leu1702Arg)
3g.38551210A>GCA352142127SCN5Ac.5159T>C (p.Leu1720Pro)
c.5162T>C (p.Leu1721Pro)
c.5108T>C (p.Leu1703Pro)
c.5000T>C (p.Leu1667Pro)
c.5063T>C (p.Leu1688Pro)
c.5033T>C (p.Leu1678Pro)
c.5105T>C (p.Leu1702Pro)
3g.38551210A>TCA352142125SCN5Ac.5159T>A (p.Leu1720His)
c.5162T>A (p.Leu1721His)
c.5108T>A (p.Leu1703His)
c.5000T>A (p.Leu1667His)
c.5063T>A (p.Leu1688His)
c.5033T>A (p.Leu1678His)
c.5105T>A (p.Leu1702His)
3g.38551211G>ACA352142129SCN5Ac.5158C>T (p.Leu1720Phe)
c.5161C>T (p.Leu1721Phe)
c.5107C>T (p.Leu1703Phe)
c.4999C>T (p.Leu1667Phe)
c.5062C>T (p.Leu1688Phe)
c.5032C>T (p.Leu1678Phe)
c.5104C>T (p.Leu1702Phe)
3g.38551211G>CCA352142131SCN5Ac.5158C>G (p.Leu1720Val)
c.5161C>G (p.Leu1721Val)
c.5107C>G (p.Leu1703Val)
c.4999C>G (p.Leu1667Val)
c.5062C>G (p.Leu1688Val)
c.5032C>G (p.Leu1678Val)
c.5104C>G (p.Leu1702Val)
3g.38551211G>TCA352142132SCN5Ac.5158C>A (p.Leu1720Ile)
c.5161C>A (p.Leu1721Ile)
c.5107C>A (p.Leu1703Ile)
c.4999C>A (p.Leu1667Ile)
c.5062C>A (p.Leu1688Ile)
c.5032C>A (p.Leu1678Ile)
c.5104C>A (p.Leu1702Ile)
3g.38551212G>ACA433331929SCN5Ac.5157C>T (p.Ile1719=)
c.5160C>T (p.Ile1720=)
c.5106C>T (p.Ile1702=)
c.4998C>T (p.Ile1666=)
c.5061C>T (p.Ile1687=)
c.5031C>T (p.Ile1677=)
c.5103C>T (p.Ile1701=)
 dbSNP gnomAD v3 gnomAD v4
3g.38551212G>CCA352142134SCN5Ac.5157C>G (p.Ile1719Met)
c.5160C>G (p.Ile1720Met)
c.5106C>G (p.Ile1702Met)
c.4998C>G (p.Ile1666Met)
c.5061C>G (p.Ile1687Met)
c.5031C>G (p.Ile1677Met)
c.5103C>G (p.Ile1701Met)
3g.38551212G>TCA433331934SCN5Ac.5157C>A (p.Ile1719=)
c.5160C>A (p.Ile1720=)
c.5106C>A (p.Ile1702=)
c.4998C>A (p.Ile1666=)
c.5061C>A (p.Ile1687=)
c.5031C>A (p.Ile1677=)
c.5103C>A (p.Ile1701=)
3g.38551213A>CCA352142136SCN5Ac.5156T>G (p.Ile1719Ser)
c.5159T>G (p.Ile1720Ser)
c.5105T>G (p.Ile1702Ser)
c.4997T>G (p.Ile1666Ser)
c.5060T>G (p.Ile1687Ser)
c.5030T>G (p.Ile1677Ser)
c.5102T>G (p.Ile1701Ser)
3g.38551213A>GCA352142138SCN5Ac.5156T>C (p.Ile1719Thr)
c.5159T>C (p.Ile1720Thr)
c.5105T>C (p.Ile1702Thr)
c.4997T>C (p.Ile1666Thr)
c.5060T>C (p.Ile1687Thr)
c.5030T>C (p.Ile1677Thr)
c.5102T>C (p.Ile1701Thr)
3g.38551213A>TCA352142140SCN5Ac.5156T>A (p.Ile1719Asn)
c.5159T>A (p.Ile1720Asn)
c.5105T>A (p.Ile1702Asn)
c.4997T>A (p.Ile1666Asn)
c.5060T>A (p.Ile1687Asn)
c.5030T>A (p.Ile1677Asn)
c.5102T>A (p.Ile1701Asn)
3g.38551214T>ACA352142142SCN5Ac.5155A>T (p.Ile1719Phe)
c.5158A>T (p.Ile1720Phe)
c.5104A>T (p.Ile1702Phe)
c.4996A>T (p.Ile1666Phe)
c.5059A>T (p.Ile1687Phe)
c.5029A>T (p.Ile1677Phe)
c.5101A>T (p.Ile1701Phe)
3g.38551214T>CCA352142144SCN5Ac.5155A>G (p.Ile1719Val)
c.5158A>G (p.Ile1720Val)
c.5104A>G (p.Ile1702Val)
c.4996A>G (p.Ile1666Val)
c.5059A>G (p.Ile1687Val)
c.5029A>G (p.Ile1677Val)
c.5101A>G (p.Ile1701Val)
 dbSNP
3g.38551214T>GCA352142146SCN5Ac.5155A>C (p.Ile1719Leu)
c.5158A>C (p.Ile1720Leu)
c.5104A>C (p.Ile1702Leu)
c.4996A>C (p.Ile1666Leu)
c.5059A>C (p.Ile1687Leu)
c.5029A>C (p.Ile1677Leu)
c.5101A>C (p.Ile1701Leu)
3g.38551214T=CA1358557628SCN5Ac.5155A= (p.Ile1719=)
c.5158A= (p.Ile1720=)
c.5104A= (p.Ile1702=)
c.4996A= (p.Ile1666=)
c.5059A= (p.Ile1687=)
c.5029A= (p.Ile1677=)
c.5101A= (p.Ile1701=)
3g.38551215G>ACA433331938SCN5Ac.5154C>T (p.Pro1718=)
c.5157C>T (p.Pro1719=)
c.5103C>T (p.Pro1701=)
c.4995C>T (p.Pro1665=)
c.5058C>T (p.Pro1686=)
c.5028C>T (p.Pro1676=)
c.5100C>T (p.Pro1700=)
 ClinVar gnomAD v4
3g.38551215G>CCA433331940SCN5Ac.5154C>G (p.Pro1718=)
c.5157C>G (p.Pro1719=)
c.5103C>G (p.Pro1701=)
c.4995C>G (p.Pro1665=)
c.5058C>G (p.Pro1686=)
c.5028C>G (p.Pro1676=)
c.5100C>G (p.Pro1700=)
3g.38551215G>TCA433331937SCN5Ac.5154C>A (p.Pro1718=)
c.5157C>A (p.Pro1719=)
c.5103C>A (p.Pro1701=)
c.4995C>A (p.Pro1665=)
c.5058C>A (p.Pro1686=)
c.5028C>A (p.Pro1676=)
c.5100C>A (p.Pro1700=)
3g.38551218delCA2586965817SCN5Ac.5154del (p.Ile1719SerfsTer?)
c.5157del (p.Ile1720SerfsTer?)
c.5103del (p.Ile1702SerfsTer?)
c.4995del (p.Ile1666SerfsTer?)
c.5058del (p.Ile1687SerfsTer?)
c.5028del (p.Ile1677SerfsTer?)
c.5100del (p.Ile1701SerfsTer?)
3g.38551216G>ACA352142148SCN5Ac.5153C>T (p.Pro1718Leu)
c.5156C>T (p.Pro1719Leu)
c.5102C>T (p.Pro1701Leu)
c.4994C>T (p.Pro1665Leu)
c.5057C>T (p.Pro1686Leu)
c.5027C>T (p.Pro1676Leu)
c.5099C>T (p.Pro1700Leu)
 ClinVar dbSNP
3g.38551216G>CCA352142150SCN5Ac.5153C>G (p.Pro1718Arg)
c.5156C>G (p.Pro1719Arg)
c.5102C>G (p.Pro1701Arg)
c.4994C>G (p.Pro1665Arg)
c.5057C>G (p.Pro1686Arg)
c.5027C>G (p.Pro1676Arg)
c.5099C>G (p.Pro1700Arg)
3g.38551216G>TCA352142152SCN5Ac.5153C>A (p.Pro1718His)
c.5156C>A (p.Pro1719His)
c.5102C>A (p.Pro1701His)
c.4994C>A (p.Pro1665His)
c.5057C>A (p.Pro1686His)
c.5027C>A (p.Pro1676His)
c.5099C>A (p.Pro1700His)
3g.38551217G>ACA352142156SCN5Ac.5152C>T (p.Pro1718Ser)
c.5155C>T (p.Pro1719Ser)
c.5101C>T (p.Pro1701Ser)
c.4993C>T (p.Pro1665Ser)
c.5056C>T (p.Pro1686Ser)
c.5026C>T (p.Pro1676Ser)
c.5098C>T (p.Pro1700Ser)
 COSMIC COSMIC COSMIC
3g.38551217G>CCA352142158SCN5Ac.5152C>G (p.Pro1718Ala)
c.5155C>G (p.Pro1719Ala)
c.5101C>G (p.Pro1701Ala)
c.4993C>G (p.Pro1665Ala)
c.5056C>G (p.Pro1686Ala)
c.5026C>G (p.Pro1676Ala)
c.5098C>G (p.Pro1700Ala)
3g.38551217G>TCA352142154SCN5Ac.5152C>A (p.Pro1718Thr)
c.5155C>A (p.Pro1719Thr)
c.5101C>A (p.Pro1701Thr)
c.4993C>A (p.Pro1665Thr)
c.5056C>A (p.Pro1686Thr)
c.5026C>A (p.Pro1676Thr)
c.5098C>A (p.Pro1700Thr)
3g.38551218G>ACA433331945SCN5Ac.5151C>T (p.Ser1717=)
c.5154C>T (p.Ser1718=)
c.5100C>T (p.Ser1700=)
c.4992C>T (p.Ser1664=)
c.5055C>T (p.Ser1685=)
c.5025C>T (p.Ser1675=)
c.5097C>T (p.Ser1699=)
 ClinVar dbSNP gnomAD v4
3g.38551218G>CCA352142161SCN5Ac.5151C>G (p.Ser1717Arg)
c.5154C>G (p.Ser1718Arg)
c.5100C>G (p.Ser1700Arg)
c.4992C>G (p.Ser1664Arg)
c.5055C>G (p.Ser1685Arg)
c.5025C>G (p.Ser1675Arg)
c.5097C>G (p.Ser1699Arg)
 ClinVar dbSNP
3g.38551218G=CA1358557630SCN5Ac.5151C= (p.Ser1717=)
c.5154C= (p.Ser1718=)
c.5100C= (p.Ser1700=)
c.4992C= (p.Ser1664=)
c.5055C= (p.Ser1685=)
c.5025C= (p.Ser1675=)
c.5097C= (p.Ser1699=)
3g.38551218G>TCA064180SCN5Ac.5151C>A (p.Ser1717Arg)
c.5154C>A (p.Ser1718Arg)
c.5100C>A (p.Ser1700Arg)
c.4992C>A (p.Ser1664Arg)
c.5055C>A (p.Ser1685Arg)
c.5025C>A (p.Ser1675Arg)
c.5097C>A (p.Ser1699Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551219C>ACA352142163SCN5Ac.5150G>T (p.Ser1717Ile)
c.5153G>T (p.Ser1718Ile)
c.5099G>T (p.Ser1700Ile)
c.4991G>T (p.Ser1664Ile)
c.5054G>T (p.Ser1685Ile)
c.5024G>T (p.Ser1675Ile)
c.5096G>T (p.Ser1699Ile)
3g.38551219C=CA1358557632SCN5Ac.5150G= (p.Ser1717=)
c.5153G= (p.Ser1718=)
c.5099G= (p.Ser1700=)
c.4991G= (p.Ser1664=)
c.5054G= (p.Ser1685=)
c.5024G= (p.Ser1675=)
c.5096G= (p.Ser1699=)
3g.38551219C>GCA352142165SCN5Ac.5150G>C (p.Ser1717Thr)
c.5153G>C (p.Ser1718Thr)
c.5099G>C (p.Ser1700Thr)
c.4991G>C (p.Ser1664Thr)
c.5054G>C (p.Ser1685Thr)
c.5024G>C (p.Ser1675Thr)
c.5096G>C (p.Ser1699Thr)
3g.38551219C>TCA352142166SCN5Ac.5150G>A (p.Ser1717Asn)
c.5153G>A (p.Ser1718Asn)
c.5099G>A (p.Ser1700Asn)
c.4991G>A (p.Ser1664Asn)
c.5054G>A (p.Ser1685Asn)
c.5024G>A (p.Ser1675Asn)
c.5096G>A (p.Ser1699Asn)
 ClinVar dbSNP gnomAD v4
3g.38551220T>ACA352142168SCN5Ac.5149A>T (p.Ser1717Cys)
c.5152A>T (p.Ser1718Cys)
c.5098A>T (p.Ser1700Cys)
c.4990A>T (p.Ser1664Cys)
c.5053A>T (p.Ser1685Cys)
c.5023A>T (p.Ser1675Cys)
c.5095A>T (p.Ser1699Cys)
3g.38551220T>CCA352142169SCN5Ac.5149A>G (p.Ser1717Gly)
c.5152A>G (p.Ser1718Gly)
c.5098A>G (p.Ser1700Gly)
c.4990A>G (p.Ser1664Gly)
c.5053A>G (p.Ser1685Gly)
c.5023A>G (p.Ser1675Gly)
c.5095A>G (p.Ser1699Gly)
3g.38551220T>GCA352142170SCN5Ac.5149A>C (p.Ser1717Arg)
c.5152A>C (p.Ser1718Arg)
c.5098A>C (p.Ser1700Arg)
c.4990A>C (p.Ser1664Arg)
c.5053A>C (p.Ser1685Arg)
c.5023A>C (p.Ser1675Arg)
c.5095A>C (p.Ser1699Arg)
3g.38551221G>ACA433331956SCN5Ac.5148C>T (p.Leu1716=)
c.5151C>T (p.Leu1717=)
c.5097C>T (p.Leu1699=)
c.4989C>T (p.Leu1663=)
c.5052C>T (p.Leu1684=)
c.5022C>T (p.Leu1674=)
c.5094C>T (p.Leu1698=)
3g.38551221G>CCA433331961SCN5Ac.5148C>G (p.Leu1716=)
c.5151C>G (p.Leu1717=)
c.5097C>G (p.Leu1699=)
c.4989C>G (p.Leu1663=)
c.5052C>G (p.Leu1684=)
c.5022C>G (p.Leu1674=)
c.5094C>G (p.Leu1698=)
 ClinVar
3g.38551221G>TCA433331959SCN5Ac.5148C>A (p.Leu1716=)
c.5151C>A (p.Leu1717=)
c.5097C>A (p.Leu1699=)
c.4989C>A (p.Leu1663=)
c.5052C>A (p.Leu1684=)
c.5022C>A (p.Leu1674=)
c.5094C>A (p.Leu1698=)
3g.38551222A>CCA352142172SCN5Ac.5147T>G (p.Leu1716Arg)
c.5150T>G (p.Leu1717Arg)
c.5096T>G (p.Leu1699Arg)
c.4988T>G (p.Leu1663Arg)
c.5051T>G (p.Leu1684Arg)
c.5021T>G (p.Leu1674Arg)
c.5093T>G (p.Leu1698Arg)
3g.38551222A>GCA352142174SCN5Ac.5147T>C (p.Leu1716Pro)
c.5150T>C (p.Leu1717Pro)
c.5096T>C (p.Leu1699Pro)
c.4988T>C (p.Leu1663Pro)
c.5051T>C (p.Leu1684Pro)
c.5021T>C (p.Leu1674Pro)
c.5093T>C (p.Leu1698Pro)
 gnomAD v4
3g.38551222A>TCA352142176SCN5Ac.5147T>A (p.Leu1716His)
c.5150T>A (p.Leu1717His)
c.5096T>A (p.Leu1699His)
c.4988T>A (p.Leu1663His)
c.5051T>A (p.Leu1684His)
c.5021T>A (p.Leu1674His)
c.5093T>A (p.Leu1698His)
3g.38551223G>ACA352142178SCN5Ac.5146C>T (p.Leu1716Phe)
c.5149C>T (p.Leu1717Phe)
c.5095C>T (p.Leu1699Phe)
c.4987C>T (p.Leu1663Phe)
c.5050C>T (p.Leu1684Phe)
c.5020C>T (p.Leu1674Phe)
c.5092C>T (p.Leu1698Phe)
3g.38551223G>CCA352142180SCN5Ac.5146C>G (p.Leu1716Val)
c.5149C>G (p.Leu1717Val)
c.5095C>G (p.Leu1699Val)
c.4987C>G (p.Leu1663Val)
c.5050C>G (p.Leu1684Val)
c.5020C>G (p.Leu1674Val)
c.5092C>G (p.Leu1698Val)
3g.38551223G>TCA352142182SCN5Ac.5146C>A (p.Leu1716Ile)
c.5149C>A (p.Leu1717Ile)
c.5095C>A (p.Leu1699Ile)
c.4987C>A (p.Leu1663Ile)
c.5050C>A (p.Leu1684Ile)
c.5020C>A (p.Leu1674Ile)
c.5092C>A (p.Leu1698Ile)
3g.38551224G>ACA433331965SCN5Ac.5145C>T (p.Leu1715=)
c.5148C>T (p.Leu1716=)
c.5094C>T (p.Leu1698=)
c.4986C>T (p.Leu1662=)
c.5049C>T (p.Leu1683=)
c.5019C>T (p.Leu1673=)
c.5091C>T (p.Leu1697=)
 dbSNP gnomAD v2
3g.38551224G>CCA433331966SCN5Ac.5145C>G (p.Leu1715=)
c.5148C>G (p.Leu1716=)
c.5094C>G (p.Leu1698=)
c.4986C>G (p.Leu1662=)
c.5049C>G (p.Leu1683=)
c.5019C>G (p.Leu1673=)
c.5091C>G (p.Leu1697=)
3g.38551224G=CA1358557636SCN5Ac.5145C= (p.Leu1715=)
c.5148C= (p.Leu1716=)
c.5094C= (p.Leu1698=)
c.4986C= (p.Leu1662=)
c.5049C= (p.Leu1683=)
c.5019C= (p.Leu1673=)
c.5091C= (p.Leu1697=)
3g.38551224G>TCA433331970SCN5Ac.5145C>A (p.Leu1715=)
c.5148C>A (p.Leu1716=)
c.5094C>A (p.Leu1698=)
c.4986C>A (p.Leu1662=)
c.5049C>A (p.Leu1683=)
c.5019C>A (p.Leu1673=)
c.5091C>A (p.Leu1697=)
3g.38551225A>CCA352142188SCN5Ac.5144T>G (p.Leu1715Arg)
c.5147T>G (p.Leu1716Arg)
c.5093T>G (p.Leu1698Arg)
c.4985T>G (p.Leu1662Arg)
c.5048T>G (p.Leu1683Arg)
c.5018T>G (p.Leu1673Arg)
c.5090T>G (p.Leu1697Arg)
3g.38551225A>GCA352142186SCN5Ac.5144T>C (p.Leu1715Pro)
c.5147T>C (p.Leu1716Pro)
c.5093T>C (p.Leu1698Pro)
c.4985T>C (p.Leu1662Pro)
c.5048T>C (p.Leu1683Pro)
c.5018T>C (p.Leu1673Pro)
c.5090T>C (p.Leu1697Pro)
3g.38551225A>TCA352142184SCN5Ac.5144T>A (p.Leu1715His)
c.5147T>A (p.Leu1716His)
c.5093T>A (p.Leu1698His)
c.4985T>A (p.Leu1662His)
c.5048T>A (p.Leu1683His)
c.5018T>A (p.Leu1673His)
c.5090T>A (p.Leu1697His)
3g.38551225_38551226delinsAGCA1358557640SCN5Ac.5143_5144delinsCT (p.Leu1715=)
c.5146_5147delinsCT (p.Leu1716=)
c.5092_5093delinsCT (p.Leu1698=)
c.4984_4985delinsCT (p.Leu1662=)
c.5047_5048delinsCT (p.Leu1683=)
c.5017_5018delinsCT (p.Leu1673=)
c.5089_5090delinsCT (p.Leu1697=)
3g.38551226G>ACA72938090SCN5Ac.5143C>T (p.Leu1715Phe)
c.5146C>T (p.Leu1716Phe)
c.5092C>T (p.Leu1698Phe)
c.4984C>T (p.Leu1662Phe)
c.5047C>T (p.Leu1683Phe)
c.5017C>T (p.Leu1673Phe)
c.5089C>T (p.Leu1697Phe)
 ClinVar dbSNP gnomAD v4
3g.38551226G>CCA352142190SCN5Ac.5143C>G (p.Leu1715Val)
c.5146C>G (p.Leu1716Val)
c.5092C>G (p.Leu1698Val)
c.4984C>G (p.Leu1662Val)
c.5047C>G (p.Leu1683Val)
c.5017C>G (p.Leu1673Val)
c.5089C>G (p.Leu1697Val)
3g.38551226G=CA1358557644SCN5Ac.5143C= (p.Leu1715=)
c.5146C= (p.Leu1716=)
c.5092C= (p.Leu1698=)
c.4984C= (p.Leu1662=)
c.5047C= (p.Leu1683=)
c.5017C= (p.Leu1673=)
c.5089C= (p.Leu1697=)
3g.38551226G>TCA352142192SCN5Ac.5143C>A (p.Leu1715Ile)
c.5146C>A (p.Leu1716Ile)
c.5092C>A (p.Leu1698Ile)
c.4984C>A (p.Leu1662Ile)
c.5047C>A (p.Leu1683Ile)
c.5017C>A (p.Leu1673Ile)
c.5089C>A (p.Leu1697Ile)
3g.38551227delCA542615524SCN5Ac.5143del (p.Leu1715SerfsTer?)
c.5146del (p.Leu1716SerfsTer?)
c.5092del (p.Leu1698SerfsTer?)
c.4984del (p.Leu1662SerfsTer?)
c.5047del (p.Leu1683SerfsTer?)
c.5017del (p.Leu1673SerfsTer?)
c.5089del (p.Leu1697SerfsTer?)
 dbSNP gnomAD v2 gnomAD v4
3g.38551227G>ACA433331972SCN5Ac.5142C>T (p.Gly1714=)
c.5145C>T (p.Gly1715=)
c.5091C>T (p.Gly1697=)
c.4983C>T (p.Gly1661=)
c.5046C>T (p.Gly1682=)
c.5016C>T (p.Gly1672=)
c.5088C>T (p.Gly1696=)
 ClinVar dbSNP gnomAD v4
3g.38551227G>CCA433331973SCN5Ac.5142C>G (p.Gly1714=)
c.5145C>G (p.Gly1715=)
c.5091C>G (p.Gly1697=)
c.4983C>G (p.Gly1661=)
c.5046C>G (p.Gly1682=)
c.5016C>G (p.Gly1672=)
c.5088C>G (p.Gly1696=)
 ClinVar
3g.38551227G>TCA433331975SCN5Ac.5142C>A (p.Gly1714=)
c.5145C>A (p.Gly1715=)
c.5091C>A (p.Gly1697=)
c.4983C>A (p.Gly1661=)
c.5046C>A (p.Gly1682=)
c.5016C>A (p.Gly1672=)
c.5088C>A (p.Gly1696=)
3g.38551228C>ACA352142194SCN5Ac.5141G>T (p.Gly1714Val)
c.5144G>T (p.Gly1715Val)
c.5090G>T (p.Gly1697Val)
c.4982G>T (p.Gly1661Val)
c.5045G>T (p.Gly1682Val)
c.5015G>T (p.Gly1672Val)
c.5087G>T (p.Gly1696Val)
3g.38551228C=CA1358557646SCN5Ac.5141G= (p.Gly1714=)
c.5144G= (p.Gly1715=)
c.5090G= (p.Gly1697=)
c.4982G= (p.Gly1661=)
c.5045G= (p.Gly1682=)
c.5015G= (p.Gly1672=)
c.5087G= (p.Gly1696=)
3g.38551228C>GCA018938SCN5Ac.5141G>C (p.Gly1714Ala)
c.5144G>C (p.Gly1715Ala)
c.5090G>C (p.Gly1697Ala)
c.4982G>C (p.Gly1661Ala)
c.5045G>C (p.Gly1682Ala)
c.5015G>C (p.Gly1672Ala)
c.5087G>C (p.Gly1696Ala)
 ClinVar dbSNP gnomAD v4
3g.38551228C>TCA352142197SCN5Ac.5141G>A (p.Gly1714Asp)
c.5144G>A (p.Gly1715Asp)
c.5090G>A (p.Gly1697Asp)
c.4982G>A (p.Gly1661Asp)
c.5045G>A (p.Gly1682Asp)
c.5015G>A (p.Gly1672Asp)
c.5087G>A (p.Gly1696Asp)
 ClinVar COSMIC COSMIC COSMIC
3g.38551229C>ACA352142199SCN5Ac.5140G>T (p.Gly1714Cys)
c.5143G>T (p.Gly1715Cys)
c.5089G>T (p.Gly1697Cys)
c.4981G>T (p.Gly1661Cys)
c.5044G>T (p.Gly1682Cys)
c.5014G>T (p.Gly1672Cys)
c.5086G>T (p.Gly1696Cys)
3g.38551229C>GCA352142201SCN5Ac.5140G>C (p.Gly1714Arg)
c.5143G>C (p.Gly1715Arg)
c.5089G>C (p.Gly1697Arg)
c.4981G>C (p.Gly1661Arg)
c.5044G>C (p.Gly1682Arg)
c.5014G>C (p.Gly1672Arg)
c.5086G>C (p.Gly1696Arg)
3g.38551229C>TCA352142203SCN5Ac.5140G>A (p.Gly1714Ser)
c.5143G>A (p.Gly1715Ser)
c.5089G>A (p.Gly1697Ser)
c.4981G>A (p.Gly1661Ser)
c.5044G>A (p.Gly1682Ser)
c.5014G>A (p.Gly1672Ser)
c.5086G>A (p.Gly1696Ser)
 COSMIC COSMIC COSMIC
3g.38551230A>CCA352142204SCN5Ac.5139T>G (p.Asp1713Glu)
c.5142T>G (p.Asp1714Glu)
c.5088T>G (p.Asp1696Glu)
c.4980T>G (p.Asp1660Glu)
c.5043T>G (p.Asp1681Glu)
c.5013T>G (p.Asp1671Glu)
c.5085T>G (p.Asp1695Glu)
3g.38551230A>GCA433331979SCN5Ac.5139T>C (p.Asp1713=)
c.5142T>C (p.Asp1714=)
c.5088T>C (p.Asp1696=)
c.4980T>C (p.Asp1660=)
c.5043T>C (p.Asp1681=)
c.5013T>C (p.Asp1671=)
c.5085T>C (p.Asp1695=)
 ClinVar
3g.38551230A>TCA352142206SCN5Ac.5139T>A (p.Asp1713Glu)
c.5142T>A (p.Asp1714Glu)
c.5088T>A (p.Asp1696Glu)
c.4980T>A (p.Asp1660Glu)
c.5043T>A (p.Asp1681Glu)
c.5013T>A (p.Asp1671Glu)
c.5085T>A (p.Asp1695Glu)
3g.38551231T>ACA352142208SCN5Ac.5138A>T (p.Asp1713Val)
c.5141A>T (p.Asp1714Val)
c.5087A>T (p.Asp1696Val)
c.4979A>T (p.Asp1660Val)
c.5042A>T (p.Asp1681Val)
c.5012A>T (p.Asp1671Val)
c.5084A>T (p.Asp1695Val)
3g.38551231T>CCA018933SCN5Ac.5138A>G (p.Asp1713Gly)
c.5141A>G (p.Asp1714Gly)
c.5087A>G (p.Asp1696Gly)
c.4979A>G (p.Asp1660Gly)
c.5042A>G (p.Asp1681Gly)
c.5012A>G (p.Asp1671Gly)
c.5084A>G (p.Asp1695Gly)
 ClinVar dbSNP
3g.38551231T>GCA352142209SCN5Ac.5138A>C (p.Asp1713Ala)
c.5141A>C (p.Asp1714Ala)
c.5087A>C (p.Asp1696Ala)
c.4979A>C (p.Asp1660Ala)
c.5042A>C (p.Asp1681Ala)
c.5012A>C (p.Asp1671Ala)
c.5084A>C (p.Asp1695Ala)
3g.38551231T=CA1358557648SCN5Ac.5138A= (p.Asp1713=)
c.5141A= (p.Asp1714=)
c.5087A= (p.Asp1696=)
c.4979A= (p.Asp1660=)
c.5042A= (p.Asp1681=)
c.5012A= (p.Asp1671=)
c.5084A= (p.Asp1695=)
3g.38551232C>ACA352142213SCN5Ac.5137G>T (p.Asp1713Tyr)
c.5140G>T (p.Asp1714Tyr)
c.5086G>T (p.Asp1696Tyr)
c.4978G>T (p.Asp1660Tyr)
c.5041G>T (p.Asp1681Tyr)
c.5011G>T (p.Asp1671Tyr)
c.5083G>T (p.Asp1695Tyr)
3g.38551232C=CA1358557654SCN5Ac.5137G= (p.Asp1713=)
c.5140G= (p.Asp1714=)
c.5086G= (p.Asp1696=)
c.4978G= (p.Asp1660=)
c.5041G= (p.Asp1681=)
c.5011G= (p.Asp1671=)
c.5083G= (p.Asp1695=)
3g.38551232C>GCA352142214SCN5Ac.5137G>C (p.Asp1713His)
c.5140G>C (p.Asp1714His)
c.5086G>C (p.Asp1696His)
c.4978G>C (p.Asp1660His)
c.5041G>C (p.Asp1681His)
c.5011G>C (p.Asp1671His)
c.5083G>C (p.Asp1695His)
3g.38551232C>TCA018925SCN5Ac.5137G>A (p.Asp1713Asn)
c.5140G>A (p.Asp1714Asn)
c.5086G>A (p.Asp1696Asn)
c.4978G>A (p.Asp1660Asn)
c.5041G>A (p.Asp1681Asn)
c.5011G>A (p.Asp1671Asn)
c.5083G>A (p.Asp1695Asn)
 ClinVar dbSNP
3g.38551233C>ACA352142217SCN5Ac.5136G>T (p.Trp1712Cys)
c.5139G>T (p.Trp1713Cys)
c.5085G>T (p.Trp1695Cys)
c.4977G>T (p.Trp1659Cys)
c.5040G>T (p.Trp1680Cys)
c.5010G>T (p.Trp1670Cys)
c.5082G>T (p.Trp1694Cys)
3g.38551233C>GCA352142219SCN5Ac.5136G>C (p.Trp1712Cys)
c.5139G>C (p.Trp1713Cys)
c.5085G>C (p.Trp1695Cys)
c.4977G>C (p.Trp1659Cys)
c.5040G>C (p.Trp1680Cys)
c.5010G>C (p.Trp1670Cys)
c.5082G>C (p.Trp1694Cys)
 gnomAD v4
3g.38551233C>TCA352142220SCN5Ac.5136G>A (p.Trp1712Ter)
c.5139G>A (p.Trp1713Ter)
c.5085G>A (p.Trp1695Ter)
c.4977G>A (p.Trp1659Ter)
c.5040G>A (p.Trp1680Ter)
c.5010G>A (p.Trp1670Ter)
c.5082G>A (p.Trp1694Ter)
 COSMIC COSMIC COSMIC
3g.38551234C>ACA352142222SCN5Ac.5135G>T (p.Trp1712Leu)
c.5138G>T (p.Trp1713Leu)
c.5084G>T (p.Trp1695Leu)
c.4976G>T (p.Trp1659Leu)
c.5039G>T (p.Trp1680Leu)
c.5009G>T (p.Trp1670Leu)
c.5081G>T (p.Trp1694Leu)
3g.38551234C=CA1358557657SCN5Ac.5135G= (p.Trp1712=)
c.5138G= (p.Trp1713=)
c.5084G= (p.Trp1695=)
c.4976G= (p.Trp1659=)
c.5039G= (p.Trp1680=)
c.5009G= (p.Trp1670=)
c.5081G= (p.Trp1694=)
3g.38551234C>GCA352142224SCN5Ac.5135G>C (p.Trp1712Ser)
c.5138G>C (p.Trp1713Ser)
c.5084G>C (p.Trp1695Ser)
c.4976G>C (p.Trp1659Ser)
c.5039G>C (p.Trp1680Ser)
c.5009G>C (p.Trp1670Ser)
c.5081G>C (p.Trp1694Ser)
3g.38551234C>TCA352142226SCN5Ac.5135G>A (p.Trp1712Ter)
c.5138G>A (p.Trp1713Ter)
c.5084G>A (p.Trp1695Ter)
c.4976G>A (p.Trp1659Ter)
c.5039G>A (p.Trp1680Ter)
c.5009G>A (p.Trp1670Ter)
c.5081G>A (p.Trp1694Ter)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38551235A>CCA352142227SCN5Ac.5134T>G (p.Trp1712Gly)
c.5137T>G (p.Trp1713Gly)
c.5083T>G (p.Trp1695Gly)
c.4975T>G (p.Trp1659Gly)
c.5038T>G (p.Trp1680Gly)
c.5008T>G (p.Trp1670Gly)
c.5080T>G (p.Trp1694Gly)
3g.38551235A>GCA352142228SCN5Ac.5134T>C (p.Trp1712Arg)
c.5137T>C (p.Trp1713Arg)
c.5083T>C (p.Trp1695Arg)
c.4975T>C (p.Trp1659Arg)
c.5038T>C (p.Trp1680Arg)
c.5008T>C (p.Trp1670Arg)
c.5080T>C (p.Trp1694Arg)
3g.38551235A>TCA352142229SCN5Ac.5134T>A (p.Trp1712Arg)
c.5137T>A (p.Trp1713Arg)
c.5083T>A (p.Trp1695Arg)
c.4975T>A (p.Trp1659Arg)
c.5038T>A (p.Trp1680Arg)
c.5008T>A (p.Trp1670Arg)
c.5080T>A (p.Trp1694Arg)
3g.38551236G>ACA433331987SCN5Ac.5133C>T (p.Gly1711=)
c.5136C>T (p.Gly1712=)
c.5082C>T (p.Gly1694=)
c.4974C>T (p.Gly1658=)
c.5037C>T (p.Gly1679=)
c.5007C>T (p.Gly1669=)
c.5079C>T (p.Gly1693=)
3g.38551236G>CCA433331990SCN5Ac.5133C>G (p.Gly1711=)
c.5136C>G (p.Gly1712=)
c.5082C>G (p.Gly1694=)
c.4974C>G (p.Gly1658=)
c.5037C>G (p.Gly1679=)
c.5007C>G (p.Gly1669=)
c.5079C>G (p.Gly1693=)
3g.38551236G>TCA433331992SCN5Ac.5133C>A (p.Gly1711=)
c.5136C>A (p.Gly1712=)
c.5082C>A (p.Gly1694=)
c.4974C>A (p.Gly1658=)
c.5037C>A (p.Gly1679=)
c.5007C>A (p.Gly1669=)
c.5079C>A (p.Gly1693=)
3g.38551237C>ACA352142231SCN5Ac.5132G>T (p.Gly1711Val)
c.5135G>T (p.Gly1712Val)
c.5081G>T (p.Gly1694Val)
c.4973G>T (p.Gly1658Val)
c.5036G>T (p.Gly1679Val)
c.5006G>T (p.Gly1669Val)
c.5078G>T (p.Gly1693Val)
3g.38551237C>GCA352142232SCN5Ac.5132G>C (p.Gly1711Ala)
c.5135G>C (p.Gly1712Ala)
c.5081G>C (p.Gly1694Ala)
c.4973G>C (p.Gly1658Ala)
c.5036G>C (p.Gly1679Ala)
c.5006G>C (p.Gly1669Ala)
c.5078G>C (p.Gly1693Ala)
3g.38551237C>TCA352142233SCN5Ac.5132G>A (p.Gly1711Asp)
c.5135G>A (p.Gly1712Asp)
c.5081G>A (p.Gly1694Asp)
c.4973G>A (p.Gly1658Asp)
c.5036G>A (p.Gly1679Asp)
c.5006G>A (p.Gly1669Asp)
c.5078G>A (p.Gly1693Asp)
 ClinVar gnomAD v4
3g.38551238C>ACA352142238SCN5Ac.5131G>T (p.Gly1711Cys)
c.5134G>T (p.Gly1712Cys)
c.5080G>T (p.Gly1694Cys)
c.4972G>T (p.Gly1658Cys)
c.5035G>T (p.Gly1679Cys)
c.5005G>T (p.Gly1669Cys)
c.5077G>T (p.Gly1693Cys)
3g.38551238C=CA1358557661SCN5Ac.5131G= (p.Gly1711=)
c.5134G= (p.Gly1712=)
c.5080G= (p.Gly1694=)
c.4972G= (p.Gly1658=)
c.5035G= (p.Gly1679=)
c.5005G= (p.Gly1669=)
c.5077G= (p.Gly1693=)
3g.38551238C>GCA352142237SCN5Ac.5131G>C (p.Gly1711Arg)
c.5134G>C (p.Gly1712Arg)
c.5080G>C (p.Gly1694Arg)
c.4972G>C (p.Gly1658Arg)
c.5035G>C (p.Gly1679Arg)
c.5005G>C (p.Gly1669Arg)
c.5077G>C (p.Gly1693Arg)
3g.38551238C>TCA018920SCN5Ac.5131G>A (p.Gly1711Ser)
c.5134G>A (p.Gly1712Ser)
c.5080G>A (p.Gly1694Ser)
c.4972G>A (p.Gly1658Ser)
c.5035G>A (p.Gly1679Ser)
c.5005G>A (p.Gly1669Ser)
c.5077G>A (p.Gly1693Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38551239G>ACA064171SCN5Ac.5130C>T (p.Ala1710=)
c.5133C>T (p.Ala1711=)
c.5079C>T (p.Ala1693=)
c.4971C>T (p.Ala1657=)
c.5034C>T (p.Ala1678=)
c.5004C>T (p.Ala1668=)
c.5076C>T (p.Ala1692=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551239G>CCA433331995SCN5Ac.5130C>G (p.Ala1710=)
c.5133C>G (p.Ala1711=)
c.5079C>G (p.Ala1693=)
c.4971C>G (p.Ala1657=)
c.5034C>G (p.Ala1678=)
c.5004C>G (p.Ala1668=)
c.5076C>G (p.Ala1692=)
 ClinVar
3g.38551239G=CA1358557666SCN5Ac.5130C= (p.Ala1710=)
c.5133C= (p.Ala1711=)
c.5079C= (p.Ala1693=)
c.4971C= (p.Ala1657=)
c.5034C= (p.Ala1678=)
c.5004C= (p.Ala1668=)
c.5076C= (p.Ala1692=)
3g.38551239G>TCA433331997SCN5Ac.5130C>A (p.Ala1710=)
c.5133C>A (p.Ala1711=)
c.5079C>A (p.Ala1693=)
c.4971C>A (p.Ala1657=)
c.5034C>A (p.Ala1678=)
c.5004C>A (p.Ala1668=)
c.5076C>A (p.Ala1692=)
3g.38551240G>ACA352142242SCN5Ac.5129C>T (p.Ala1710Val)
c.5132C>T (p.Ala1711Val)
c.5078C>T (p.Ala1693Val)
c.4970C>T (p.Ala1657Val)
c.5033C>T (p.Ala1678Val)
c.5003C>T (p.Ala1668Val)
c.5075C>T (p.Ala1692Val)
3g.38551240G>CCA352142243SCN5Ac.5129C>G (p.Ala1710Gly)
c.5132C>G (p.Ala1711Gly)
c.5078C>G (p.Ala1693Gly)
c.4970C>G (p.Ala1657Gly)
c.5033C>G (p.Ala1678Gly)
c.5003C>G (p.Ala1668Gly)
c.5075C>G (p.Ala1692Gly)
3g.38551240G>TCA352142245SCN5Ac.5129C>A (p.Ala1710Asp)
c.5132C>A (p.Ala1711Asp)
c.5078C>A (p.Ala1693Asp)
c.4970C>A (p.Ala1657Asp)
c.5033C>A (p.Ala1678Asp)
c.5003C>A (p.Ala1668Asp)
c.5075C>A (p.Ala1692Asp)
3g.38551240_38551241delinsGCCA1358557671SCN5Ac.5128_5129delinsGC (p.Ala1710=)
c.5131_5132delinsGC (p.Ala1711=)
c.5077_5078delinsGC (p.Ala1693=)
c.4969_4970delinsGC (p.Ala1657=)
c.5032_5033delinsGC (p.Ala1678=)
c.5002_5003delinsGC (p.Ala1668=)
c.5074_5075delinsGC (p.Ala1692=)
3g.38551241C>ACA352142248SCN5Ac.5128G>T (p.Ala1710Ser)
c.5131G>T (p.Ala1711Ser)
c.5077G>T (p.Ala1693Ser)
c.4969G>T (p.Ala1657Ser)
c.5032G>T (p.Ala1678Ser)
c.5002G>T (p.Ala1668Ser)
c.5074G>T (p.Ala1692Ser)
 dbSNP
3g.38551241C=CA1358557676SCN5Ac.5128G= (p.Ala1710=)
c.5131G= (p.Ala1711=)
c.5077G= (p.Ala1693=)
c.4969G= (p.Ala1657=)
c.5032G= (p.Ala1678=)
c.5002G= (p.Ala1668=)
c.5074G= (p.Ala1692=)
3g.38551241C>GCA352142249SCN5Ac.5128G>C (p.Ala1710Pro)
c.5131G>C (p.Ala1711Pro)
c.5077G>C (p.Ala1693Pro)
c.4969G>C (p.Ala1657Pro)
c.5032G>C (p.Ala1678Pro)
c.5002G>C (p.Ala1668Pro)
c.5074G>C (p.Ala1692Pro)
3g.38551241C>TCA352142251SCN5Ac.5128G>A (p.Ala1710Thr)
c.5131G>A (p.Ala1711Thr)
c.5077G>A (p.Ala1693Thr)
c.4969G>A (p.Ala1657Thr)
c.5032G>A (p.Ala1678Thr)
c.5002G>A (p.Ala1668Thr)
c.5074G>A (p.Ala1692Thr)
 ClinVar
3g.38551242delCA018914SCN5Ac.5128del (p.Ala1710ProfsTer?)
c.5131del (p.Ala1711ProfsTer?)
c.5077del (p.Ala1693ProfsTer?)
c.4969del (p.Ala1657ProfsTer?)
c.5032del (p.Ala1678ProfsTer?)
c.5002del (p.Ala1668ProfsTer?)
c.5074del (p.Ala1692ProfsTer?)
 ClinVar dbSNP
3g.38551242C>ACA433332000SCN5Ac.5127G>T (p.Ser1709=)
c.5130G>T (p.Ser1710=)
c.5076G>T (p.Ser1692=)
c.4968G>T (p.Ser1656=)
c.5031G>T (p.Ser1677=)
c.5001G>T (p.Ser1667=)
c.5073G>T (p.Ser1691=)
3g.38551242C=CA1358557682SCN5Ac.5127G= (p.Ser1709=)
c.5130G= (p.Ser1710=)
c.5076G= (p.Ser1692=)
c.4968G= (p.Ser1656=)
c.5031G= (p.Ser1677=)
c.5001G= (p.Ser1667=)
c.5073G= (p.Ser1691=)
3g.38551242C>GCA433331999SCN5Ac.5127G>C (p.Ser1709=)
c.5130G>C (p.Ser1710=)
c.5076G>C (p.Ser1692=)
c.4968G>C (p.Ser1656=)
c.5031G>C (p.Ser1677=)
c.5001G>C (p.Ser1667=)
c.5073G>C (p.Ser1691=)
3g.38551242C>TCA064164SCN5Ac.5127G>A (p.Ser1709=)
c.5130G>A (p.Ser1710=)
c.5076G>A (p.Ser1692=)
c.4968G>A (p.Ser1656=)
c.5031G>A (p.Ser1677=)
c.5001G>A (p.Ser1667=)
c.5073G>A (p.Ser1691=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551243G>ACA018910SCN5Ac.5126C>T (p.Ser1709Leu)
c.5129C>T (p.Ser1710Leu)
c.5075C>T (p.Ser1692Leu)
c.4967C>T (p.Ser1656Leu)
c.5030C>T (p.Ser1677Leu)
c.5000C>T (p.Ser1667Leu)
c.5072C>T (p.Ser1691Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551243G>CCA352142256SCN5Ac.5126C>G (p.Ser1709Trp)
c.5129C>G (p.Ser1710Trp)
c.5075C>G (p.Ser1692Trp)
c.4967C>G (p.Ser1656Trp)
c.5030C>G (p.Ser1677Trp)
c.5000C>G (p.Ser1667Trp)
c.5072C>G (p.Ser1691Trp)
3g.38551243G=CA1358557685SCN5Ac.5126C= (p.Ser1709=)
c.5129C= (p.Ser1710=)
c.5075C= (p.Ser1692=)
c.4967C= (p.Ser1656=)
c.5030C= (p.Ser1677=)
c.5000C= (p.Ser1667=)
c.5072C= (p.Ser1691=)
3g.38551243G>TCA352142258SCN5Ac.5126C>A (p.Ser1709Ter)
c.5129C>A (p.Ser1710Ter)
c.5075C>A (p.Ser1692Ter)
c.4967C>A (p.Ser1656Ter)
c.5030C>A (p.Ser1677Ter)
c.5000C>A (p.Ser1667Ter)
c.5072C>A (p.Ser1691Ter)
3g.38551244A>CCA352142263SCN5Ac.5125T>G (p.Ser1709Ala)
c.5128T>G (p.Ser1710Ala)
c.5074T>G (p.Ser1692Ala)
c.4966T>G (p.Ser1656Ala)
c.5029T>G (p.Ser1677Ala)
c.4999T>G (p.Ser1667Ala)
c.5071T>G (p.Ser1691Ala)
3g.38551244A>GCA352142262SCN5Ac.5125T>C (p.Ser1709Pro)
c.5128T>C (p.Ser1710Pro)
c.5074T>C (p.Ser1692Pro)
c.4966T>C (p.Ser1656Pro)
c.5029T>C (p.Ser1677Pro)
c.4999T>C (p.Ser1667Pro)
c.5071T>C (p.Ser1691Pro)
3g.38551244A>TCA352142260SCN5Ac.5125T>A (p.Ser1709Thr)
c.5128T>A (p.Ser1710Thr)
c.5074T>A (p.Ser1692Thr)
c.4966T>A (p.Ser1656Thr)
c.5029T>A (p.Ser1677Thr)
c.4999T>A (p.Ser1667Thr)
c.5071T>A (p.Ser1691Thr)
3g.38551245C>ACA433332003SCN5Ac.5124G>T (p.Thr1708=)
c.5127G>T (p.Thr1709=)
c.5073G>T (p.Thr1691=)
c.4965G>T (p.Thr1655=)
c.5028G>T (p.Thr1676=)
c.4998G>T (p.Thr1666=)
c.5070G>T (p.Thr1690=)
3g.38551245C=CA1358557690SCN5Ac.5124G= (p.Thr1708=)
c.5127G= (p.Thr1709=)
c.5073G= (p.Thr1691=)
c.4965G= (p.Thr1655=)
c.5028G= (p.Thr1676=)
c.4998G= (p.Thr1666=)
c.5070G= (p.Thr1690=)
3g.38551245C>GCA433332004SCN5Ac.5124G>C (p.Thr1708=)
c.5127G>C (p.Thr1709=)
c.5073G>C (p.Thr1691=)
c.4965G>C (p.Thr1655=)
c.5028G>C (p.Thr1676=)
c.4998G>C (p.Thr1666=)
c.5070G>C (p.Thr1690=)
 gnomAD v4
3g.38551245C>TCA064154SCN5Ac.5124G>A (p.Thr1708=)
c.5127G>A (p.Thr1709=)
c.5073G>A (p.Thr1691=)
c.4965G>A (p.Thr1655=)
c.5028G>A (p.Thr1676=)
c.4998G>A (p.Thr1666=)
c.5070G>A (p.Thr1690=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551246G>ACA018904SCN5Ac.5123C>T (p.Thr1708Met)
c.5126C>T (p.Thr1709Met)
c.5072C>T (p.Thr1691Met)
c.4964C>T (p.Thr1655Met)
c.5027C>T (p.Thr1676Met)
c.4997C>T (p.Thr1666Met)
c.5069C>T (p.Thr1690Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551246G>CCA018895SCN5Ac.5123C>G (p.Thr1708Arg)
c.5126C>G (p.Thr1709Arg)
c.5072C>G (p.Thr1691Arg)
c.4964C>G (p.Thr1655Arg)
c.5027C>G (p.Thr1676Arg)
c.4997C>G (p.Thr1666Arg)
c.5069C>G (p.Thr1690Arg)
 ClinVar dbSNP
3g.38551246G=CA1358557694SCN5Ac.5123C= (p.Thr1708=)
c.5126C= (p.Thr1709=)
c.5072C= (p.Thr1691=)
c.4964C= (p.Thr1655=)
c.5027C= (p.Thr1676=)
c.4997C= (p.Thr1666=)
c.5069C= (p.Thr1690=)
3g.38551246G>TCA352142267SCN5Ac.5123C>A (p.Thr1708Lys)
c.5126C>A (p.Thr1709Lys)
c.5072C>A (p.Thr1691Lys)
c.4964C>A (p.Thr1655Lys)
c.5027C>A (p.Thr1676Lys)
c.4997C>A (p.Thr1666Lys)
c.5069C>A (p.Thr1690Lys)
3g.38551249_38551251delCA2580614208SCN5Ac.5121_5123del (p.Thr1708del)
c.5124_5126del (p.Thr1709del)
c.5070_5072del (p.Thr1691del)
c.4962_4964del (p.Thr1655del)
c.5025_5027del (p.Thr1676del)
c.4995_4997del (p.Thr1666del)
c.5067_5069del (p.Thr1690del)
 ClinVar gnomAD v4
3g.38551247T>ACA352142270SCN5Ac.5122A>T (p.Thr1708Ser)
c.5125A>T (p.Thr1709Ser)
c.5071A>T (p.Thr1691Ser)
c.4963A>T (p.Thr1655Ser)
c.5026A>T (p.Thr1676Ser)
c.4996A>T (p.Thr1666Ser)
c.5068A>T (p.Thr1690Ser)
3g.38551247T>CCA352142272SCN5Ac.5122A>G (p.Thr1708Ala)
c.5125A>G (p.Thr1709Ala)
c.5071A>G (p.Thr1691Ala)
c.4963A>G (p.Thr1655Ala)
c.5026A>G (p.Thr1676Ala)
c.4996A>G (p.Thr1666Ala)
c.5068A>G (p.Thr1690Ala)
3g.38551247T>GCA352142273SCN5Ac.5122A>C (p.Thr1708Pro)
c.5125A>C (p.Thr1709Pro)
c.5071A>C (p.Thr1691Pro)
c.4963A>C (p.Thr1655Pro)
c.5026A>C (p.Thr1676Pro)
c.4996A>C (p.Thr1666Pro)
c.5068A>C (p.Thr1690Pro)
3g.38551248G>ACA433332008SCN5Ac.5121C>T (p.Thr1707=)
c.5124C>T (p.Thr1708=)
c.5070C>T (p.Thr1690=)
c.4962C>T (p.Thr1654=)
c.5025C>T (p.Thr1675=)
c.4995C>T (p.Thr1665=)
c.5067C>T (p.Thr1689=)
3g.38551248G>CCA433332009SCN5Ac.5121C>G (p.Thr1707=)
c.5124C>G (p.Thr1708=)
c.5070C>G (p.Thr1690=)
c.4962C>G (p.Thr1654=)
c.5025C>G (p.Thr1675=)
c.4995C>G (p.Thr1665=)
c.5067C>G (p.Thr1689=)
 dbSNP
3g.38551248G=CA1358557711SCN5Ac.5121C= (p.Thr1707=)
c.5124C= (p.Thr1708=)
c.5070C= (p.Thr1690=)
c.4962C= (p.Thr1654=)
c.5025C= (p.Thr1675=)
c.4995C= (p.Thr1665=)
c.5067C= (p.Thr1689=)
3g.38551248G>TCA433332010SCN5Ac.5121C>A (p.Thr1707=)
c.5124C>A (p.Thr1708=)
c.5070C>A (p.Thr1690=)
c.4962C>A (p.Thr1654=)
c.5025C>A (p.Thr1675=)
c.4995C>A (p.Thr1665=)
c.5067C>A (p.Thr1689=)
3g.38551249G>ACA352142276SCN5Ac.5120C>T (p.Thr1707Ile)
c.5123C>T (p.Thr1708Ile)
c.5069C>T (p.Thr1690Ile)
c.4961C>T (p.Thr1654Ile)
c.5024C>T (p.Thr1675Ile)
c.4994C>T (p.Thr1665Ile)
c.5066C>T (p.Thr1689Ile)
 dbSNP gnomAD v2 gnomAD v4
3g.38551249G>CCA352142278SCN5Ac.5120C>G (p.Thr1707Ser)
c.5123C>G (p.Thr1708Ser)
c.5069C>G (p.Thr1690Ser)
c.4961C>G (p.Thr1654Ser)
c.5024C>G (p.Thr1675Ser)
c.4994C>G (p.Thr1665Ser)
c.5066C>G (p.Thr1689Ser)
3g.38551249G=CA1358557714SCN5Ac.5120C= (p.Thr1707=)
c.5123C= (p.Thr1708=)
c.5069C= (p.Thr1690=)
c.4961C= (p.Thr1654=)
c.5024C= (p.Thr1675=)
c.4994C= (p.Thr1665=)
c.5066C= (p.Thr1689=)
3g.38551249G>TCA352142280SCN5Ac.5120C>A (p.Thr1707Asn)
c.5123C>A (p.Thr1708Asn)
c.5069C>A (p.Thr1690Asn)
c.4961C>A (p.Thr1654Asn)
c.5024C>A (p.Thr1675Asn)
c.4994C>A (p.Thr1665Asn)
c.5066C>A (p.Thr1689Asn)
 ClinVar
3g.38551250T>ACA352142282SCN5Ac.5119A>T (p.Thr1707Ser)
c.5122A>T (p.Thr1708Ser)
c.5068A>T (p.Thr1690Ser)
c.4960A>T (p.Thr1654Ser)
c.5023A>T (p.Thr1675Ser)
c.4993A>T (p.Thr1665Ser)
c.5065A>T (p.Thr1689Ser)
3g.38551250T>CCA352142284SCN5Ac.5119A>G (p.Thr1707Ala)
c.5122A>G (p.Thr1708Ala)
c.5068A>G (p.Thr1690Ala)
c.4960A>G (p.Thr1654Ala)
c.5023A>G (p.Thr1675Ala)
c.4993A>G (p.Thr1665Ala)
c.5065A>G (p.Thr1689Ala)
3g.38551250T>GCA352142286SCN5Ac.5119A>C (p.Thr1707Pro)
c.5122A>C (p.Thr1708Pro)
c.5068A>C (p.Thr1690Pro)
c.4960A>C (p.Thr1654Pro)
c.5023A>C (p.Thr1675Pro)
c.4993A>C (p.Thr1665Pro)
c.5065A>C (p.Thr1689Pro)
3g.38551251G>ACA064141SCN5Ac.5118C>T (p.Ile1706=)
c.5121C>T (p.Ile1707=)
c.5067C>T (p.Ile1689=)
c.4959C>T (p.Ile1653=)
c.5022C>T (p.Ile1674=)
c.4992C>T (p.Ile1664=)
c.5064C>T (p.Ile1688=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551251G>CCA352142289SCN5Ac.5118C>G (p.Ile1706Met)
c.5121C>G (p.Ile1707Met)
c.5067C>G (p.Ile1689Met)
c.4959C>G (p.Ile1653Met)
c.5022C>G (p.Ile1674Met)
c.4992C>G (p.Ile1664Met)
c.5064C>G (p.Ile1688Met)
3g.38551251G=CA1358557716SCN5Ac.5118C= (p.Ile1706=)
c.5121C= (p.Ile1707=)
c.5067C= (p.Ile1689=)
c.4959C= (p.Ile1653=)
c.5022C= (p.Ile1674=)
c.4992C= (p.Ile1664=)
c.5064C= (p.Ile1688=)
3g.38551251G>TCA433332013SCN5Ac.5118C>A (p.Ile1706=)
c.5121C>A (p.Ile1707=)
c.5067C>A (p.Ile1689=)
c.4959C>A (p.Ile1653=)
c.5022C>A (p.Ile1674=)
c.4992C>A (p.Ile1664=)
c.5064C>A (p.Ile1688=)
3g.38551252A>CCA352142291SCN5Ac.5117T>G (p.Ile1706Ser)
c.5120T>G (p.Ile1707Ser)
c.5066T>G (p.Ile1689Ser)
c.4958T>G (p.Ile1653Ser)
c.5021T>G (p.Ile1674Ser)
c.4991T>G (p.Ile1664Ser)
c.5063T>G (p.Ile1688Ser)
3g.38551252A>GCA352142294SCN5Ac.5117T>C (p.Ile1706Thr)
c.5120T>C (p.Ile1707Thr)
c.5066T>C (p.Ile1689Thr)
c.4958T>C (p.Ile1653Thr)
c.5021T>C (p.Ile1674Thr)
c.4991T>C (p.Ile1664Thr)
c.5063T>C (p.Ile1688Thr)
3g.38551252A>TCA352142292SCN5Ac.5117T>A (p.Ile1706Asn)
c.5120T>A (p.Ile1707Asn)
c.5066T>A (p.Ile1689Asn)
c.4958T>A (p.Ile1653Asn)
c.5021T>A (p.Ile1674Asn)
c.4991T>A (p.Ile1664Asn)
c.5063T>A (p.Ile1688Asn)
3g.38551253T>ACA352142296SCN5Ac.5116A>T (p.Ile1706Phe)
c.5119A>T (p.Ile1707Phe)
c.5065A>T (p.Ile1689Phe)
c.4957A>T (p.Ile1653Phe)
c.5020A>T (p.Ile1674Phe)
c.4990A>T (p.Ile1664Phe)
c.5062A>T (p.Ile1688Phe)
3g.38551253T>CCA72938119SCN5Ac.5116A>G (p.Ile1706Val)
c.5119A>G (p.Ile1707Val)
c.5065A>G (p.Ile1689Val)
c.4957A>G (p.Ile1653Val)
c.5020A>G (p.Ile1674Val)
c.4990A>G (p.Ile1664Val)
c.5062A>G (p.Ile1688Val)
 dbSNP gnomAD v4
3g.38551253T>GCA352142299SCN5Ac.5116A>C (p.Ile1706Leu)
c.5119A>C (p.Ile1707Leu)
c.5065A>C (p.Ile1689Leu)
c.4957A>C (p.Ile1653Leu)
c.5020A>C (p.Ile1674Leu)
c.4990A>C (p.Ile1664Leu)
c.5062A>C (p.Ile1688Leu)
3g.38551253T=CA1358557719SCN5Ac.5116A= (p.Ile1706=)
c.5119A= (p.Ile1707=)
c.5065A= (p.Ile1689=)
c.4957A= (p.Ile1653=)
c.5020A= (p.Ile1674=)
c.4990A= (p.Ile1664=)
c.5062A= (p.Ile1688=)
3g.38551254C>ACA352142300SCN5Ac.5115G>T (p.Gln1705His)
c.5118G>T (p.Gln1706His)
c.5064G>T (p.Gln1688His)
c.4956G>T (p.Gln1652His)
c.5019G>T (p.Gln1673His)
c.4989G>T (p.Gln1663His)
c.5061G>T (p.Gln1687His)
 ClinVar
3g.38551254C=CA1358557724SCN5Ac.5115G= (p.Gln1705=)
c.5118G= (p.Gln1706=)
c.5064G= (p.Gln1688=)
c.4956G= (p.Gln1652=)
c.5019G= (p.Gln1673=)
c.4989G= (p.Gln1663=)
c.5061G= (p.Gln1687=)
3g.38551254C>GCA018890SCN5Ac.5115G>C (p.Gln1705His)
c.5118G>C (p.Gln1706His)
c.5064G>C (p.Gln1688His)
c.4956G>C (p.Gln1652His)
c.5019G>C (p.Gln1673His)
c.4989G>C (p.Gln1663His)
c.5061G>C (p.Gln1687His)
 ClinVar dbSNP
3g.38551254C>TCA433332015SCN5Ac.5115G>A (p.Gln1705=)
c.5118G>A (p.Gln1706=)
c.5064G>A (p.Gln1688=)
c.4956G>A (p.Gln1652=)
c.5019G>A (p.Gln1673=)
c.4989G>A (p.Gln1663=)
c.5061G>A (p.Gln1687=)
 ClinVar dbSNP
3g.38551255T>ACA352142303SCN5Ac.5114A>T (p.Gln1705Leu)
c.5117A>T (p.Gln1706Leu)
c.5063A>T (p.Gln1688Leu)
c.4955A>T (p.Gln1652Leu)
c.5018A>T (p.Gln1673Leu)
c.4988A>T (p.Gln1663Leu)
c.5060A>T (p.Gln1687Leu)
3g.38551255T>CCA352142305SCN5Ac.5114A>G (p.Gln1705Arg)
c.5117A>G (p.Gln1706Arg)
c.5063A>G (p.Gln1688Arg)
c.4955A>G (p.Gln1652Arg)
c.5018A>G (p.Gln1673Arg)
c.4988A>G (p.Gln1663Arg)
c.5060A>G (p.Gln1687Arg)
3g.38551255T>GCA352142306SCN5Ac.5114A>C (p.Gln1705Pro)
c.5117A>C (p.Gln1706Pro)
c.5063A>C (p.Gln1688Pro)
c.4955A>C (p.Gln1652Pro)
c.5018A>C (p.Gln1673Pro)
c.4988A>C (p.Gln1663Pro)
c.5060A>C (p.Gln1687Pro)
3g.38551256G>ACA352142307SCN5Ac.5113C>T (p.Gln1705Ter)
c.5116C>T (p.Gln1706Ter)
c.5062C>T (p.Gln1688Ter)
c.4954C>T (p.Gln1652Ter)
c.5017C>T (p.Gln1673Ter)
c.4987C>T (p.Gln1663Ter)
c.5059C>T (p.Gln1687Ter)
3g.38551256G>CCA352142308SCN5Ac.5113C>G (p.Gln1705Glu)
c.5116C>G (p.Gln1706Glu)
c.5062C>G (p.Gln1688Glu)
c.4954C>G (p.Gln1652Glu)
c.5017C>G (p.Gln1673Glu)
c.4987C>G (p.Gln1663Glu)
c.5059C>G (p.Gln1687Glu)
3g.38551256G>TCA352142309SCN5Ac.5113C>A (p.Gln1705Lys)
c.5116C>A (p.Gln1706Lys)
c.5062C>A (p.Gln1688Lys)
c.4954C>A (p.Gln1652Lys)
c.5017C>A (p.Gln1673Lys)
c.4987C>A (p.Gln1663Lys)
c.5059C>A (p.Gln1687Lys)
3g.38551257G>ACA433332016SCN5Ac.5112C>T (p.Phe1704=)
c.5115C>T (p.Phe1705=)
c.5061C>T (p.Phe1687=)
c.4953C>T (p.Phe1651=)
c.5016C>T (p.Phe1672=)
c.4986C>T (p.Phe1662=)
c.5058C>T (p.Phe1686=)
 dbSNP
3g.38551257G>CCA352142312SCN5Ac.5112C>G (p.Phe1704Leu)
c.5115C>G (p.Phe1705Leu)
c.5061C>G (p.Phe1687Leu)
c.4953C>G (p.Phe1651Leu)
c.5016C>G (p.Phe1672Leu)
c.4986C>G (p.Phe1662Leu)
c.5058C>G (p.Phe1686Leu)
 gnomAD v4
3g.38551257G>TCA352142310SCN5Ac.5112C>A (p.Phe1704Leu)
c.5115C>A (p.Phe1705Leu)
c.5061C>A (p.Phe1687Leu)
c.4953C>A (p.Phe1651Leu)
c.5016C>A (p.Phe1672Leu)
c.4986C>A (p.Phe1662Leu)
c.5058C>A (p.Phe1686Leu)
3g.38551258A=CA1358557730SCN5Ac.5111T= (p.Phe1704=)
c.5114T= (p.Phe1705=)
c.5060T= (p.Phe1687=)
c.4952T= (p.Phe1651=)
c.5015T= (p.Phe1672=)
c.4985T= (p.Phe1662=)
c.5057T= (p.Phe1686=)
3g.38551258A>CCA352142313SCN5Ac.5111T>G (p.Phe1704Cys)
c.5114T>G (p.Phe1705Cys)
c.5060T>G (p.Phe1687Cys)
c.4952T>G (p.Phe1651Cys)
c.5015T>G (p.Phe1672Cys)
c.4985T>G (p.Phe1662Cys)
c.5057T>G (p.Phe1686Cys)
3g.38551258A>GCA018886SCN5Ac.5111T>C (p.Phe1704Ser)
c.5114T>C (p.Phe1705Ser)
c.5060T>C (p.Phe1687Ser)
c.4952T>C (p.Phe1651Ser)
c.5015T>C (p.Phe1672Ser)
c.4985T>C (p.Phe1662Ser)
c.5057T>C (p.Phe1686Ser)
 ClinVar dbSNP
3g.38551258A>TCA352142315SCN5Ac.5111T>A (p.Phe1704Tyr)
c.5114T>A (p.Phe1705Tyr)
c.5060T>A (p.Phe1687Tyr)
c.4952T>A (p.Phe1651Tyr)
c.5015T>A (p.Phe1672Tyr)
c.4985T>A (p.Phe1662Tyr)
c.5057T>A (p.Phe1686Tyr)
3g.38551259A=CA1358557732SCN5Ac.5110T= (p.Phe1704=)
c.5113T= (p.Phe1705=)
c.5059T= (p.Phe1687=)
c.4951T= (p.Phe1651=)
c.5014T= (p.Phe1672=)
c.4984T= (p.Phe1662=)
c.5056T= (p.Phe1686=)
3g.38551259A>CCA352142317SCN5Ac.5110T>G (p.Phe1704Val)
c.5113T>G (p.Phe1705Val)
c.5059T>G (p.Phe1687Val)
c.4951T>G (p.Phe1651Val)
c.5014T>G (p.Phe1672Val)
c.4984T>G (p.Phe1662Val)
c.5056T>G (p.Phe1686Val)
 dbSNP
3g.38551259A>GCA352142318SCN5Ac.5110T>C (p.Phe1704Leu)
c.5113T>C (p.Phe1705Leu)
c.5059T>C (p.Phe1687Leu)
c.4951T>C (p.Phe1651Leu)
c.5014T>C (p.Phe1672Leu)
c.4984T>C (p.Phe1662Leu)
c.5056T>C (p.Phe1686Leu)
3g.38551259A>TCA352142320SCN5Ac.5110T>A (p.Phe1704Ile)
c.5113T>A (p.Phe1705Ile)
c.5059T>A (p.Phe1687Ile)
c.4951T>A (p.Phe1651Ile)
c.5014T>A (p.Phe1672Ile)
c.4984T>A (p.Phe1662Ile)
c.5056T>A (p.Phe1686Ile)
3g.38551260G>ACA064136SCN5Ac.5109C>T (p.Leu1703=)
c.5112C>T (p.Leu1704=)
c.5058C>T (p.Leu1686=)
c.4950C>T (p.Leu1650=)
c.5013C>T (p.Leu1671=)
c.4983C>T (p.Leu1661=)
c.5055C>T (p.Leu1685=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551260G>CCA433332018SCN5Ac.5109C>G (p.Leu1703=)
c.5112C>G (p.Leu1704=)
c.5058C>G (p.Leu1686=)
c.4950C>G (p.Leu1650=)
c.5013C>G (p.Leu1671=)
c.4983C>G (p.Leu1661=)
c.5055C>G (p.Leu1685=)
3g.38551260G=CA1358557736SCN5Ac.5109C= (p.Leu1703=)
c.5112C= (p.Leu1704=)
c.5058C= (p.Leu1686=)
c.4950C= (p.Leu1650=)
c.5013C= (p.Leu1671=)
c.4983C= (p.Leu1661=)
c.5055C= (p.Leu1685=)
3g.38551260G>TCA433332017SCN5Ac.5109C>A (p.Leu1703=)
c.5112C>A (p.Leu1704=)
c.5058C>A (p.Leu1686=)
c.4950C>A (p.Leu1650=)
c.5013C>A (p.Leu1671=)
c.4983C>A (p.Leu1661=)
c.5055C>A (p.Leu1685=)
 ClinVar dbSNP
3g.38551261A=CA1358557744SCN5Ac.5108T= (p.Leu1703=)
c.5111T= (p.Leu1704=)
c.5057T= (p.Leu1686=)
c.4949T= (p.Leu1650=)
c.5012T= (p.Leu1671=)
c.4982T= (p.Leu1661=)
c.5054T= (p.Leu1685=)
3g.38551261A>CCA352142325SCN5Ac.5108T>G (p.Leu1703Arg)
c.5111T>G (p.Leu1704Arg)
c.5057T>G (p.Leu1686Arg)
c.4949T>G (p.Leu1650Arg)
c.5012T>G (p.Leu1671Arg)
c.4982T>G (p.Leu1661Arg)
c.5054T>G (p.Leu1685Arg)
3g.38551261A>GCA352142321SCN5Ac.5108T>C (p.Leu1703Pro)
c.5111T>C (p.Leu1704Pro)
c.5057T>C (p.Leu1686Pro)
c.4949T>C (p.Leu1650Pro)
c.5012T>C (p.Leu1671Pro)
c.4982T>C (p.Leu1661Pro)
c.5054T>C (p.Leu1685Pro)
3g.38551261A>TCA352142323SCN5Ac.5108T>A (p.Leu1703His)
c.5111T>A (p.Leu1704His)
c.5057T>A (p.Leu1686His)
c.4949T>A (p.Leu1650His)
c.5012T>A (p.Leu1671His)
c.4982T>A (p.Leu1661His)
c.5054T>A (p.Leu1685His)
 ClinVar dbSNP
3g.38551262G>ACA352142327SCN5Ac.5107C>T (p.Leu1703Phe)
c.5110C>T (p.Leu1704Phe)
c.5056C>T (p.Leu1686Phe)
c.4948C>T (p.Leu1650Phe)
c.5011C>T (p.Leu1671Phe)
c.4981C>T (p.Leu1661Phe)
c.5053C>T (p.Leu1685Phe)
 dbSNP
3g.38551262G>CCA352142329SCN5Ac.5107C>G (p.Leu1703Val)
c.5110C>G (p.Leu1704Val)
c.5056C>G (p.Leu1686Val)
c.4948C>G (p.Leu1650Val)
c.5011C>G (p.Leu1671Val)
c.4981C>G (p.Leu1661Val)
c.5053C>G (p.Leu1685Val)
3g.38551262G=CA1358557748SCN5Ac.5107C= (p.Leu1703=)
c.5110C= (p.Leu1704=)
c.5056C= (p.Leu1686=)
c.4948C= (p.Leu1650=)
c.5011C= (p.Leu1671=)
c.4981C= (p.Leu1661=)
c.5053C= (p.Leu1685=)
3g.38551262G>TCA352142330SCN5Ac.5107C>A (p.Leu1703Ile)
c.5110C>A (p.Leu1704Ile)
c.5056C>A (p.Leu1686Ile)
c.4948C>A (p.Leu1650Ile)
c.5011C>A (p.Leu1671Ile)
c.4981C>A (p.Leu1661Ile)
c.5053C>A (p.Leu1685Ile)
3g.38551263G>ACA433332019SCN5Ac.5106C>T (p.Cys1702=)
c.5109C>T (p.Cys1703=)
c.5055C>T (p.Cys1685=)
c.4947C>T (p.Cys1649=)
c.5010C>T (p.Cys1670=)
c.4980C>T (p.Cys1660=)
c.5052C>T (p.Cys1684=)
3g.38551263G>CCA352142333SCN5Ac.5106C>G (p.Cys1702Trp)
c.5109C>G (p.Cys1703Trp)
c.5055C>G (p.Cys1685Trp)
c.4947C>G (p.Cys1649Trp)
c.5010C>G (p.Cys1670Trp)
c.4980C>G (p.Cys1660Trp)
c.5052C>G (p.Cys1684Trp)
3g.38551263G>TCA352142334SCN5Ac.5106C>A (p.Cys1702Ter)
c.5109C>A (p.Cys1703Ter)
c.5055C>A (p.Cys1685Ter)
c.4947C>A (p.Cys1649Ter)
c.5010C>A (p.Cys1670Ter)
c.4980C>A (p.Cys1660Ter)
c.5052C>A (p.Cys1684Ter)
3g.38551263_38551264delinsAACA2499216729SCN5Ac.5105_5106delinsTT (p.Cys1702Phe)
c.5108_5109delinsTT (p.Cys1703Phe)
c.5054_5055delinsTT (p.Cys1685Phe)
c.4946_4947delinsTT (p.Cys1649Phe)
c.5009_5010delinsTT (p.Cys1670Phe)
c.4979_4980delinsTT (p.Cys1660Phe)
c.5051_5052delinsTT (p.Cys1684Phe)
 ClinVar dbSNP
3g.38551264C>ACA352142336SCN5Ac.5105G>T (p.Cys1702Phe)
c.5108G>T (p.Cys1703Phe)
c.5054G>T (p.Cys1685Phe)
c.4946G>T (p.Cys1649Phe)
c.5009G>T (p.Cys1670Phe)
c.4979G>T (p.Cys1660Phe)
c.5051G>T (p.Cys1684Phe)
3g.38551264C=CA1358557752SCN5Ac.5105G= (p.Cys1702=)
c.5108G= (p.Cys1703=)
c.5054G= (p.Cys1685=)
c.4946G= (p.Cys1649=)
c.5009G= (p.Cys1670=)
c.4979G= (p.Cys1660=)
c.5051G= (p.Cys1684=)
3g.38551264C>GCA352142339SCN5Ac.5105G>C (p.Cys1702Ser)
c.5108G>C (p.Cys1703Ser)
c.5054G>C (p.Cys1685Ser)
c.4946G>C (p.Cys1649Ser)
c.5009G>C (p.Cys1670Ser)
c.4979G>C (p.Cys1660Ser)
c.5051G>C (p.Cys1684Ser)
3g.38551264C>TCA018879SCN5Ac.5105G>A (p.Cys1702Tyr)
c.5108G>A (p.Cys1703Tyr)
c.5054G>A (p.Cys1685Tyr)
c.4946G>A (p.Cys1649Tyr)
c.5009G>A (p.Cys1670Tyr)
c.4979G>A (p.Cys1660Tyr)
c.5051G>A (p.Cys1684Tyr)
 ClinVar dbSNP
3g.38551265A>CCA352142341SCN5Ac.5104T>G (p.Cys1702Gly)
c.5107T>G (p.Cys1703Gly)
c.5053T>G (p.Cys1685Gly)
c.4945T>G (p.Cys1649Gly)
c.5008T>G (p.Cys1670Gly)
c.4978T>G (p.Cys1660Gly)
c.5050T>G (p.Cys1684Gly)
3g.38551265A>GCA352142342SCN5Ac.5104T>C (p.Cys1702Arg)
c.5107T>C (p.Cys1703Arg)
c.5053T>C (p.Cys1685Arg)
c.4945T>C (p.Cys1649Arg)
c.5008T>C (p.Cys1670Arg)
c.4978T>C (p.Cys1660Arg)
c.5050T>C (p.Cys1684Arg)
3g.38551265A>TCA352142344SCN5Ac.5104T>A (p.Cys1702Ser)
c.5107T>A (p.Cys1703Ser)
c.5053T>A (p.Cys1685Ser)
c.4945T>A (p.Cys1649Ser)
c.5008T>A (p.Cys1670Ser)
c.4978T>A (p.Cys1660Ser)
c.5050T>A (p.Cys1684Ser)
3g.38551266C>ACA433332020SCN5Ac.5103G>T (p.Leu1701=)
c.5106G>T (p.Leu1702=)
c.5052G>T (p.Leu1684=)
c.4944G>T (p.Leu1648=)
c.5007G>T (p.Leu1669=)
c.4977G>T (p.Leu1659=)
c.5049G>T (p.Leu1683=)
 COSMIC COSMIC COSMIC
3g.38551266C=CA1358557756SCN5Ac.5103G= (p.Leu1701=)
c.5106G= (p.Leu1702=)
c.5052G= (p.Leu1684=)
c.4944G= (p.Leu1648=)
c.5007G= (p.Leu1669=)
c.4977G= (p.Leu1659=)
c.5049G= (p.Leu1683=)
3g.38551266C>GCA433332022SCN5Ac.5103G>C (p.Leu1701=)
c.5106G>C (p.Leu1702=)
c.5052G>C (p.Leu1684=)
c.4944G>C (p.Leu1648=)
c.5007G>C (p.Leu1669=)
c.4977G>C (p.Leu1659=)
c.5049G>C (p.Leu1683=)
3g.38551266C>TCA433332021SCN5Ac.5103G>A (p.Leu1701=)
c.5106G>A (p.Leu1702=)
c.5052G>A (p.Leu1684=)
c.4944G>A (p.Leu1648=)
c.5007G>A (p.Leu1669=)
c.4977G>A (p.Leu1659=)
c.5049G>A (p.Leu1683=)
 dbSNP gnomAD v4
3g.38551267A>CCA352142346SCN5Ac.5102T>G (p.Leu1701Arg)
c.5105T>G (p.Leu1702Arg)
c.5051T>G (p.Leu1684Arg)
c.4943T>G (p.Leu1648Arg)
c.5006T>G (p.Leu1669Arg)
c.4976T>G (p.Leu1659Arg)
c.5048T>G (p.Leu1683Arg)
3g.38551267A>GCA352142348SCN5Ac.5102T>C (p.Leu1701Pro)
c.5105T>C (p.Leu1702Pro)
c.5051T>C (p.Leu1684Pro)
c.4943T>C (p.Leu1648Pro)
c.5006T>C (p.Leu1669Pro)
c.4976T>C (p.Leu1659Pro)
c.5048T>C (p.Leu1683Pro)
3g.38551267A>TCA352142350SCN5Ac.5102T>A (p.Leu1701Gln)
c.5105T>A (p.Leu1702Gln)
c.5051T>A (p.Leu1684Gln)
c.4943T>A (p.Leu1648Gln)
c.5006T>A (p.Leu1669Gln)
c.4976T>A (p.Leu1659Gln)
c.5048T>A (p.Leu1683Gln)
3g.38551268G>ACA433332023SCN5Ac.5101C>T (p.Leu1701=)
c.5104C>T (p.Leu1702=)
c.5050C>T (p.Leu1684=)
c.4942C>T (p.Leu1648=)
c.5005C>T (p.Leu1669=)
c.4975C>T (p.Leu1659=)
c.5047C>T (p.Leu1683=)
 gnomAD v4
3g.38551268G>CCA352142351SCN5Ac.5101C>G (p.Leu1701Val)
c.5104C>G (p.Leu1702Val)
c.5050C>G (p.Leu1684Val)
c.4942C>G (p.Leu1648Val)
c.5005C>G (p.Leu1669Val)
c.4975C>G (p.Leu1659Val)
c.5047C>G (p.Leu1683Val)
3g.38551268G>TCA352142352SCN5Ac.5101C>A (p.Leu1701Met)
c.5104C>A (p.Leu1702Met)
c.5050C>A (p.Leu1684Met)
c.4942C>A (p.Leu1648Met)
c.5005C>A (p.Leu1669Met)
c.4975C>A (p.Leu1659Met)
c.5047C>A (p.Leu1683Met)
3g.38551269C>ACA064131SCN5Ac.5100G>T (p.Met1700Ile)
c.5103G>T (p.Met1701Ile)
c.5049G>T (p.Met1683Ile)
c.4941G>T (p.Met1647Ile)
c.5004G>T (p.Met1668Ile)
c.4974G>T (p.Met1658Ile)
c.5046G>T (p.Met1682Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38551269C=CA1358557758SCN5Ac.5100G= (p.Met1700=)
c.5103G= (p.Met1701=)
c.5049G= (p.Met1683=)
c.4941G= (p.Met1647=)
c.5004G= (p.Met1668=)
c.4974G= (p.Met1658=)
c.5046G= (p.Met1682=)
3g.38551269C>GCA352142354SCN5Ac.5100G>C (p.Met1700Ile)
c.5103G>C (p.Met1701Ile)
c.5049G>C (p.Met1683Ile)
c.4941G>C (p.Met1647Ile)
c.5004G>C (p.Met1668Ile)
c.4974G>C (p.Met1658Ile)
c.5046G>C (p.Met1682Ile)
3g.38551269C>TCA352142355SCN5Ac.5100G>A (p.Met1700Ile)
c.5103G>A (p.Met1701Ile)
c.5049G>A (p.Met1683Ile)
c.4941G>A (p.Met1647Ile)
c.5004G>A (p.Met1668Ile)
c.4974G>A (p.Met1658Ile)
c.5046G>A (p.Met1682Ile)
3g.38551270A>CCA352142361SCN5Ac.5099T>G (p.Met1700Arg)
c.5102T>G (p.Met1701Arg)
c.5048T>G (p.Met1683Arg)
c.4940T>G (p.Met1647Arg)
c.5003T>G (p.Met1668Arg)
c.4973T>G (p.Met1658Arg)
c.5045T>G (p.Met1682Arg)
3g.38551270A>GCA352142360SCN5Ac.5099T>C (p.Met1700Thr)
c.5102T>C (p.Met1701Thr)
c.5048T>C (p.Met1683Thr)
c.4940T>C (p.Met1647Thr)
c.5003T>C (p.Met1668Thr)
c.4973T>C (p.Met1658Thr)
c.5045T>C (p.Met1682Thr)
3g.38551270A>TCA352142358SCN5Ac.5099T>A (p.Met1700Lys)
c.5102T>A (p.Met1701Lys)
c.5048T>A (p.Met1683Lys)
c.4940T>A (p.Met1647Lys)
c.5003T>A (p.Met1668Lys)
c.4973T>A (p.Met1658Lys)
c.5045T>A (p.Met1682Lys)
3g.38551271T>ACA352142363SCN5Ac.5098A>T (p.Met1700Leu)
c.5101A>T (p.Met1701Leu)
c.5047A>T (p.Met1683Leu)
c.4939A>T (p.Met1647Leu)
c.5002A>T (p.Met1668Leu)
c.4972A>T (p.Met1658Leu)
c.5044A>T (p.Met1682Leu)
3g.38551271T>CCA352142367SCN5Ac.5098A>G (p.Met1700Val)
c.5101A>G (p.Met1701Val)
c.5047A>G (p.Met1683Val)
c.4939A>G (p.Met1647Val)
c.5002A>G (p.Met1668Val)
c.4972A>G (p.Met1658Val)
c.5044A>G (p.Met1682Val)
 gnomAD v4
3g.38551271T>GCA352142365SCN5Ac.5098A>C (p.Met1700Leu)
c.5101A>C (p.Met1701Leu)
c.5047A>C (p.Met1683Leu)
c.4939A>C (p.Met1647Leu)
c.5002A>C (p.Met1668Leu)
c.4972A>C (p.Met1658Leu)
c.5044A>C (p.Met1682Leu)
3g.38551272G>ACA433332024SCN5Ac.5097C>T (p.Ser1699=)
c.5100C>T (p.Ser1700=)
c.5046C>T (p.Ser1682=)
c.4938C>T (p.Ser1646=)
c.5001C>T (p.Ser1667=)
c.4971C>T (p.Ser1657=)
c.5043C>T (p.Ser1681=)
3g.38551272G>CCA352142369SCN5Ac.5097C>G (p.Ser1699Arg)
c.5100C>G (p.Ser1700Arg)
c.5046C>G (p.Ser1682Arg)
c.4938C>G (p.Ser1646Arg)
c.5001C>G (p.Ser1667Arg)
c.4971C>G (p.Ser1657Arg)
c.5043C>G (p.Ser1681Arg)
3g.38551272G>TCA352142371SCN5Ac.5097C>A (p.Ser1699Arg)
c.5100C>A (p.Ser1700Arg)
c.5046C>A (p.Ser1682Arg)
c.4938C>A (p.Ser1646Arg)
c.5001C>A (p.Ser1667Arg)
c.4971C>A (p.Ser1657Arg)
c.5043C>A (p.Ser1681Arg)
3g.38551273C>ACA352142373SCN5Ac.5096G>T (p.Ser1699Ile)
c.5099G>T (p.Ser1700Ile)
c.5045G>T (p.Ser1682Ile)
c.4937G>T (p.Ser1646Ile)
c.5000G>T (p.Ser1667Ile)
c.4970G>T (p.Ser1657Ile)
c.5042G>T (p.Ser1681Ile)
3g.38551273C>GCA352142377SCN5Ac.5096G>C (p.Ser1699Thr)
c.5099G>C (p.Ser1700Thr)
c.5045G>C (p.Ser1682Thr)
c.4937G>C (p.Ser1646Thr)
c.5000G>C (p.Ser1667Thr)
c.4970G>C (p.Ser1657Thr)
c.5042G>C (p.Ser1681Thr)
3g.38551273C>TCA352142375SCN5Ac.5096G>A (p.Ser1699Asn)
c.5099G>A (p.Ser1700Asn)
c.5045G>A (p.Ser1682Asn)
c.4937G>A (p.Ser1646Asn)
c.5000G>A (p.Ser1667Asn)
c.4970G>A (p.Ser1657Asn)
c.5042G>A (p.Ser1681Asn)
 ClinVar
3g.38551274T>ACA352142378SCN5Ac.5095A>T (p.Ser1699Cys)
c.5098A>T (p.Ser1700Cys)
c.5044A>T (p.Ser1682Cys)
c.4936A>T (p.Ser1646Cys)
c.4999A>T (p.Ser1667Cys)
c.4969A>T (p.Ser1657Cys)
c.5041A>T (p.Ser1681Cys)
3g.38551274T>CCA352142382SCN5Ac.5095A>G (p.Ser1699Gly)
c.5098A>G (p.Ser1700Gly)
c.5044A>G (p.Ser1682Gly)
c.4936A>G (p.Ser1646Gly)
c.4999A>G (p.Ser1667Gly)
c.4969A>G (p.Ser1657Gly)
c.5041A>G (p.Ser1681Gly)
 ClinVar dbSNP
3g.38551274T>GCA352142380SCN5Ac.5095A>C (p.Ser1699Arg)
c.5098A>C (p.Ser1700Arg)
c.5044A>C (p.Ser1682Arg)
c.4936A>C (p.Ser1646Arg)
c.4999A>C (p.Ser1667Arg)
c.4969A>C (p.Ser1657Arg)
c.5041A>C (p.Ser1681Arg)
3g.38551274T=CA1358557763SCN5Ac.5095A= (p.Ser1699=)
c.5098A= (p.Ser1700=)
c.5044A= (p.Ser1682=)
c.4936A= (p.Ser1646=)
c.4999A= (p.Ser1667=)
c.4969A= (p.Ser1657=)
c.5041A= (p.Ser1681=)
3g.38551275G>ACA433332025SCN5Ac.5094C>T (p.Asn1698=)
c.5097C>T (p.Asn1699=)
c.5043C>T (p.Asn1681=)
c.4935C>T (p.Asn1645=)
c.4998C>T (p.Asn1666=)
c.4968C>T (p.Asn1656=)
c.5040C>T (p.Asn1680=)
 ClinVar
3g.38551275G>CCA352142384SCN5Ac.5094C>G (p.Asn1698Lys)
c.5097C>G (p.Asn1699Lys)
c.5043C>G (p.Asn1681Lys)
c.4935C>G (p.Asn1645Lys)
c.4998C>G (p.Asn1666Lys)
c.4968C>G (p.Asn1656Lys)
c.5040C>G (p.Asn1680Lys)
 gnomAD v4
3g.38551275G>TCA352142385SCN5Ac.5094C>A (p.Asn1698Lys)
c.5097C>A (p.Asn1699Lys)
c.5043C>A (p.Asn1681Lys)
c.4935C>A (p.Asn1645Lys)
c.4998C>A (p.Asn1666Lys)
c.4968C>A (p.Asn1656Lys)
c.5040C>A (p.Asn1680Lys)
3g.38551276T>ACA352142387SCN5Ac.5093A>T (p.Asn1698Ile)
c.5096A>T (p.Asn1699Ile)
c.5042A>T (p.Asn1681Ile)
c.4934A>T (p.Asn1645Ile)
c.4997A>T (p.Asn1666Ile)
c.4967A>T (p.Asn1656Ile)
c.5039A>T (p.Asn1680Ile)
3g.38551276T>CCA352142389SCN5Ac.5093A>G (p.Asn1698Ser)
c.5096A>G (p.Asn1699Ser)
c.5042A>G (p.Asn1681Ser)
c.4934A>G (p.Asn1645Ser)
c.4997A>G (p.Asn1666Ser)
c.4967A>G (p.Asn1656Ser)
c.5039A>G (p.Asn1680Ser)
3g.38551276T>GCA352142390SCN5Ac.5093A>C (p.Asn1698Thr)
c.5096A>C (p.Asn1699Thr)
c.5042A>C (p.Asn1681Thr)
c.4934A>C (p.Asn1645Thr)
c.4997A>C (p.Asn1666Thr)
c.4967A>C (p.Asn1656Thr)
c.5039A>C (p.Asn1680Thr)
3g.38551277T>ACA352142392SCN5Ac.5092A>T (p.Asn1698Tyr)
c.5095A>T (p.Asn1699Tyr)
c.5041A>T (p.Asn1681Tyr)
c.4933A>T (p.Asn1645Tyr)
c.4996A>T (p.Asn1666Tyr)
c.4966A>T (p.Asn1656Tyr)
c.5038A>T (p.Asn1680Tyr)
3g.38551277T>CCA352142393SCN5Ac.5092A>G (p.Asn1698Asp)
c.5095A>G (p.Asn1699Asp)
c.5041A>G (p.Asn1681Asp)
c.4933A>G (p.Asn1645Asp)
c.4996A>G (p.Asn1666Asp)
c.4966A>G (p.Asn1656Asp)
c.5038A>G (p.Asn1680Asp)
3g.38551277T>GCA352142395SCN5Ac.5092A>C (p.Asn1698His)
c.5095A>C (p.Asn1699His)
c.5041A>C (p.Asn1681His)
c.4933A>C (p.Asn1645His)
c.4996A>C (p.Asn1666His)
c.4966A>C (p.Asn1656His)
c.5038A>C (p.Asn1680His)
3g.38551278G>ACA433332026SCN5Ac.5091C>T (p.Ala1697=)
c.5094C>T (p.Ala1698=)
c.5040C>T (p.Ala1680=)
c.4932C>T (p.Ala1644=)
c.4995C>T (p.Ala1665=)
c.4965C>T (p.Ala1655=)
c.5037C>T (p.Ala1679=)
3g.38551278G>CCA433332027SCN5Ac.5091C>G (p.Ala1697=)
c.5094C>G (p.Ala1698=)
c.5040C>G (p.Ala1680=)
c.4932C>G (p.Ala1644=)
c.4995C>G (p.Ala1665=)
c.4965C>G (p.Ala1655=)
c.5037C>G (p.Ala1679=)
3g.38551278G>TCA433332028SCN5Ac.5091C>A (p.Ala1697=)
c.5094C>A (p.Ala1698=)
c.5040C>A (p.Ala1680=)
c.4932C>A (p.Ala1644=)
c.4995C>A (p.Ala1665=)
c.4965C>A (p.Ala1655=)
c.5037C>A (p.Ala1679=)
3g.38551279G>ACA352142402SCN5Ac.5090C>T (p.Ala1697Val)
c.5093C>T (p.Ala1698Val)
c.5039C>T (p.Ala1680Val)
c.4931C>T (p.Ala1644Val)
c.4994C>T (p.Ala1665Val)
c.4964C>T (p.Ala1655Val)
c.5036C>T (p.Ala1679Val)
3g.38551279G>CCA352142401SCN5Ac.5090C>G (p.Ala1697Gly)
c.5093C>G (p.Ala1698Gly)
c.5039C>G (p.Ala1680Gly)
c.4931C>G (p.Ala1644Gly)
c.4994C>G (p.Ala1665Gly)
c.4964C>G (p.Ala1655Gly)
c.5036C>G (p.Ala1679Gly)
3g.38551279G>TCA352142400SCN5Ac.5090C>A (p.Ala1697Asp)
c.5093C>A (p.Ala1698Asp)
c.5039C>A (p.Ala1680Asp)
c.4931C>A (p.Ala1644Asp)
c.4994C>A (p.Ala1665Asp)
c.4964C>A (p.Ala1655Asp)
c.5036C>A (p.Ala1679Asp)
3g.38551280C>ACA352142405SCN5Ac.5089G>T (p.Ala1697Ser)
c.5092G>T (p.Ala1698Ser)
c.5038G>T (p.Ala1680Ser)
c.4930G>T (p.Ala1644Ser)
c.4993G>T (p.Ala1665Ser)
c.4963G>T (p.Ala1655Ser)
c.5035G>T (p.Ala1679Ser)
 gnomAD v4
3g.38551280C=CA1358557769SCN5Ac.5089G= (p.Ala1697=)
c.5092G= (p.Ala1698=)
c.5038G= (p.Ala1680=)
c.4930G= (p.Ala1644=)
c.4993G= (p.Ala1665=)
c.4963G= (p.Ala1655=)
c.5035G= (p.Ala1679=)
3g.38551280C>GCA352142406SCN5Ac.5089G>C (p.Ala1697Pro)
c.5092G>C (p.Ala1698Pro)
c.5038G>C (p.Ala1680Pro)
c.4930G>C (p.Ala1644Pro)
c.4993G>C (p.Ala1665Pro)
c.4963G>C (p.Ala1655Pro)
c.5035G>C (p.Ala1679Pro)
3g.38551280C>TCA018875SCN5Ac.5089G>A (p.Ala1697Thr)
c.5092G>A (p.Ala1698Thr)
c.5038G>A (p.Ala1680Thr)
c.4930G>A (p.Ala1644Thr)
c.4993G>A (p.Ala1665Thr)
c.4963G>A (p.Ala1655Thr)
c.5035G>A (p.Ala1679Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38551281G>ACA064116SCN5Ac.5088C>T (p.Phe1696=)
c.5091C>T (p.Phe1697=)
c.5037C>T (p.Phe1679=)
c.4929C>T (p.Phe1643=)
c.4992C>T (p.Phe1664=)
c.4962C>T (p.Phe1654=)
c.5034C>T (p.Phe1678=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551281G>CCA352142410SCN5Ac.5088C>G (p.Phe1696Leu)
c.5091C>G (p.Phe1697Leu)
c.5037C>G (p.Phe1679Leu)
c.4929C>G (p.Phe1643Leu)
c.4992C>G (p.Phe1664Leu)
c.4962C>G (p.Phe1654Leu)
c.5034C>G (p.Phe1678Leu)
3g.38551281G=CA1358557772SCN5Ac.5088C= (p.Phe1696=)
c.5091C= (p.Phe1697=)
c.5037C= (p.Phe1679=)
c.4929C= (p.Phe1643=)
c.4992C= (p.Phe1664=)
c.4962C= (p.Phe1654=)
c.5034C= (p.Phe1678=)
3g.38551281G>TCA352142411SCN5Ac.5088C>A (p.Phe1696Leu)
c.5091C>A (p.Phe1697Leu)
c.5037C>A (p.Phe1679Leu)
c.4929C>A (p.Phe1643Leu)
c.4992C>A (p.Phe1664Leu)
c.4962C>A (p.Phe1654Leu)
c.5034C>A (p.Phe1678Leu)
 gnomAD v4
3g.38551282A>CCA352142414SCN5Ac.5087T>G (p.Phe1696Cys)
c.5090T>G (p.Phe1697Cys)
c.5036T>G (p.Phe1679Cys)
c.4928T>G (p.Phe1643Cys)
c.4991T>G (p.Phe1664Cys)
c.4961T>G (p.Phe1654Cys)
c.5033T>G (p.Phe1678Cys)
3g.38551282A>GCA352142417SCN5Ac.5087T>C (p.Phe1696Ser)
c.5090T>C (p.Phe1697Ser)
c.5036T>C (p.Phe1679Ser)
c.4928T>C (p.Phe1643Ser)
c.4991T>C (p.Phe1664Ser)
c.4961T>C (p.Phe1654Ser)
c.5033T>C (p.Phe1678Ser)
3g.38551282A>TCA352142416SCN5Ac.5087T>A (p.Phe1696Tyr)
c.5090T>A (p.Phe1697Tyr)
c.5036T>A (p.Phe1679Tyr)
c.4928T>A (p.Phe1643Tyr)
c.4991T>A (p.Phe1664Tyr)
c.4961T>A (p.Phe1654Tyr)
c.5033T>A (p.Phe1678Tyr)
3g.38551283A>CCA352142419SCN5Ac.5086T>G (p.Phe1696Val)
c.5089T>G (p.Phe1697Val)
c.5035T>G (p.Phe1679Val)
c.4927T>G (p.Phe1643Val)
c.4990T>G (p.Phe1664Val)
c.4960T>G (p.Phe1654Val)
c.5032T>G (p.Phe1678Val)
3g.38551283A>GCA352142421SCN5Ac.5086T>C (p.Phe1696Leu)
c.5089T>C (p.Phe1697Leu)
c.5035T>C (p.Phe1679Leu)
c.4927T>C (p.Phe1643Leu)
c.4990T>C (p.Phe1664Leu)
c.4960T>C (p.Phe1654Leu)
c.5032T>C (p.Phe1678Leu)
 ClinVar dbSNP gnomAD v4
3g.38551283A>TCA352142423SCN5Ac.5086T>A (p.Phe1696Ile)
c.5089T>A (p.Phe1697Ile)
c.5035T>A (p.Phe1679Ile)
c.4927T>A (p.Phe1643Ile)
c.4990T>A (p.Phe1664Ile)
c.4960T>A (p.Phe1654Ile)
c.5032T>A (p.Phe1678Ile)
3g.38551284G>ACA433332029SCN5Ac.5085C>T (p.Thr1695=)
c.5088C>T (p.Thr1696=)
c.5034C>T (p.Thr1678=)
c.4926C>T (p.Thr1642=)
c.4989C>T (p.Thr1663=)
c.4959C>T (p.Thr1653=)
c.5031C>T (p.Thr1677=)
 gnomAD v4
3g.38551284G>CCA433332030SCN5Ac.5085C>G (p.Thr1695=)
c.5088C>G (p.Thr1696=)
c.5034C>G (p.Thr1678=)
c.4926C>G (p.Thr1642=)
c.4989C>G (p.Thr1663=)
c.4959C>G (p.Thr1653=)
c.5031C>G (p.Thr1677=)
3g.38551284G>TCA433332031SCN5Ac.5085C>A (p.Thr1695=)
c.5088C>A (p.Thr1696=)
c.5034C>A (p.Thr1678=)
c.4926C>A (p.Thr1642=)
c.4989C>A (p.Thr1663=)
c.4959C>A (p.Thr1653=)
c.5031C>A (p.Thr1677=)
3g.38551285G>ACA352142424SCN5Ac.5084C>T (p.Thr1695Ile)
c.5087C>T (p.Thr1696Ile)
c.5033C>T (p.Thr1678Ile)
c.4925C>T (p.Thr1642Ile)
c.4988C>T (p.Thr1663Ile)
c.4958C>T (p.Thr1653Ile)
c.5030C>T (p.Thr1677Ile)
3g.38551285G>CCA352142425SCN5Ac.5084C>G (p.Thr1695Ser)
c.5087C>G (p.Thr1696Ser)
c.5033C>G (p.Thr1678Ser)
c.4925C>G (p.Thr1642Ser)
c.4988C>G (p.Thr1663Ser)
c.4958C>G (p.Thr1653Ser)
c.5030C>G (p.Thr1677Ser)
3g.38551285G>TCA352142427SCN5Ac.5084C>A (p.Thr1695Asn)
c.5087C>A (p.Thr1696Asn)
c.5033C>A (p.Thr1678Asn)
c.4925C>A (p.Thr1642Asn)
c.4988C>A (p.Thr1663Asn)
c.4958C>A (p.Thr1653Asn)
c.5030C>A (p.Thr1677Asn)
3g.38551286T>ACA352142429SCN5Ac.5083A>T (p.Thr1695Ser)
c.5086A>T (p.Thr1696Ser)
c.5032A>T (p.Thr1678Ser)
c.4924A>T (p.Thr1642Ser)
c.4987A>T (p.Thr1663Ser)
c.4957A>T (p.Thr1653Ser)
c.5029A>T (p.Thr1677Ser)
3g.38551286T>CCA352142431SCN5Ac.5083A>G (p.Thr1695Ala)
c.5086A>G (p.Thr1696Ala)
c.5032A>G (p.Thr1678Ala)
c.4924A>G (p.Thr1642Ala)
c.4987A>G (p.Thr1663Ala)
c.4957A>G (p.Thr1653Ala)
c.5029A>G (p.Thr1677Ala)
 COSMIC COSMIC COSMIC
3g.38551286T>GCA352142432SCN5Ac.5083A>C (p.Thr1695Pro)
c.5086A>C (p.Thr1696Pro)
c.5032A>C (p.Thr1678Pro)
c.4924A>C (p.Thr1642Pro)
c.4987A>C (p.Thr1663Pro)
c.4957A>C (p.Thr1653Pro)
c.5029A>C (p.Thr1677Pro)
3g.38551287C>ACA352142435SCN5Ac.5082G>T (p.Gln1694His)
c.5085G>T (p.Gln1695His)
c.5031G>T (p.Gln1677His)
c.4923G>T (p.Gln1641His)
c.4986G>T (p.Gln1662His)
c.4956G>T (p.Gln1652His)
c.5028G>T (p.Gln1676His)
3g.38551287C=CA1358557776SCN5Ac.5082G= (p.Gln1694=)
c.5085G= (p.Gln1695=)
c.5031G= (p.Gln1677=)
c.4923G= (p.Gln1641=)
c.4986G= (p.Gln1662=)
c.4956G= (p.Gln1652=)
c.5028G= (p.Gln1676=)
3g.38551287C>GCA352142436SCN5Ac.5082G>C (p.Gln1694His)
c.5085G>C (p.Gln1695His)
c.5031G>C (p.Gln1677His)
c.4923G>C (p.Gln1641His)
c.4986G>C (p.Gln1662His)
c.4956G>C (p.Gln1652His)
c.5028G>C (p.Gln1676His)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38551287C>TCA433332032SCN5Ac.5082G>A (p.Gln1694=)
c.5085G>A (p.Gln1695=)
c.5031G>A (p.Gln1677=)
c.4923G>A (p.Gln1641=)
c.4986G>A (p.Gln1662=)
c.4956G>A (p.Gln1652=)
c.5028G>A (p.Gln1676=)
 ClinVar dbSNP gnomAD v4
3g.38551288T>ACA352142438SCN5Ac.5081A>T (p.Gln1694Leu)
c.5084A>T (p.Gln1695Leu)
c.5030A>T (p.Gln1677Leu)
c.4922A>T (p.Gln1641Leu)
c.4985A>T (p.Gln1662Leu)
c.4955A>T (p.Gln1652Leu)
c.5027A>T (p.Gln1676Leu)
3g.38551288T>CCA352142440SCN5Ac.5081A>G (p.Gln1694Arg)
c.5084A>G (p.Gln1695Arg)
c.5030A>G (p.Gln1677Arg)
c.4922A>G (p.Gln1641Arg)
c.4985A>G (p.Gln1662Arg)
c.4955A>G (p.Gln1652Arg)
c.5027A>G (p.Gln1676Arg)
3g.38551288T>GCA352142439SCN5Ac.5081A>C (p.Gln1694Pro)
c.5084A>C (p.Gln1695Pro)
c.5030A>C (p.Gln1677Pro)
c.4922A>C (p.Gln1641Pro)
c.4985A>C (p.Gln1662Pro)
c.4955A>C (p.Gln1652Pro)
c.5027A>C (p.Gln1676Pro)
3g.38551289G>ACA352142443SCN5Ac.5080C>T (p.Gln1694Ter)
c.5083C>T (p.Gln1695Ter)
c.5029C>T (p.Gln1677Ter)
c.4921C>T (p.Gln1641Ter)
c.4984C>T (p.Gln1662Ter)
c.4954C>T (p.Gln1652Ter)
c.5026C>T (p.Gln1676Ter)
 ClinVar dbSNP
3g.38551289G>CCA352142445SCN5Ac.5080C>G (p.Gln1694Glu)
c.5083C>G (p.Gln1695Glu)
c.5029C>G (p.Gln1677Glu)
c.4921C>G (p.Gln1641Glu)
c.4984C>G (p.Gln1662Glu)
c.4954C>G (p.Gln1652Glu)
c.5026C>G (p.Gln1676Glu)
3g.38551289G=CA1358557779SCN5Ac.5080C= (p.Gln1694=)
c.5083C= (p.Gln1695=)
c.5029C= (p.Gln1677=)
c.4921C= (p.Gln1641=)
c.4984C= (p.Gln1662=)
c.4954C= (p.Gln1652=)
c.5026C= (p.Gln1676=)
3g.38551289G>TCA352142446SCN5Ac.5080C>A (p.Gln1694Lys)
c.5083C>A (p.Gln1695Lys)
c.5029C>A (p.Gln1677Lys)
c.4921C>A (p.Gln1641Lys)
c.4984C>A (p.Gln1662Lys)
c.4954C>A (p.Gln1652Lys)
c.5026C>A (p.Gln1676Lys)

Number of alleles fetched