Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)

Number of alleles fetched