Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38550903C>ACA352141045SCN5Ac.5466G>T (p.Glu1822Asp)
c.5469G>T (p.Glu1823Asp)
c.5415G>T (p.Glu1805Asp)
c.5307G>T (p.Glu1769Asp)
c.5370G>T (p.Glu1790Asp)
c.5340G>T (p.Glu1780Asp)
c.5412G>T (p.Glu1804Asp)
3g.38550903C>GCA352141044SCN5Ac.5466G>C (p.Glu1822Asp)
c.5469G>C (p.Glu1823Asp)
c.5415G>C (p.Glu1805Asp)
c.5307G>C (p.Glu1769Asp)
c.5370G>C (p.Glu1790Asp)
c.5340G>C (p.Glu1780Asp)
c.5412G>C (p.Glu1804Asp)
3g.38550903C>TCA433332264SCN5Ac.5466G>A (p.Glu1822=)
c.5469G>A (p.Glu1823=)
c.5415G>A (p.Glu1805=)
c.5307G>A (p.Glu1769=)
c.5370G>A (p.Glu1790=)
c.5340G>A (p.Glu1780=)
c.5412G>A (p.Glu1804=)
3g.38550904T>ACA352141046SCN5Ac.5465A>T (p.Glu1822Val)
c.5468A>T (p.Glu1823Val)
c.5414A>T (p.Glu1805Val)
c.5306A>T (p.Glu1769Val)
c.5369A>T (p.Glu1790Val)
c.5339A>T (p.Glu1780Val)
c.5411A>T (p.Glu1804Val)
3g.38550904T>CCA352141048SCN5Ac.5465A>G (p.Glu1822Gly)
c.5468A>G (p.Glu1823Gly)
c.5414A>G (p.Glu1805Gly)
c.5306A>G (p.Glu1769Gly)
c.5369A>G (p.Glu1790Gly)
c.5339A>G (p.Glu1780Gly)
c.5411A>G (p.Glu1804Gly)
3g.38550904T>GCA352141047SCN5Ac.5465A>C (p.Glu1822Ala)
c.5468A>C (p.Glu1823Ala)
c.5414A>C (p.Glu1805Ala)
c.5306A>C (p.Glu1769Ala)
c.5369A>C (p.Glu1790Ala)
c.5339A>C (p.Glu1780Ala)
c.5411A>C (p.Glu1804Ala)
3g.38550904_38550908delinsTCAGACA1358556870SCN5Ac.5461_5465delinsTCTGA (p.Ser1821=)
c.5464_5468delinsTCTGA (p.Ser1822=)
c.5410_5414delinsTCTGA (p.Ser1804=)
c.5302_5306delinsTCTGA (p.Ser1768=)
c.5365_5369delinsTCTGA (p.Ser1789=)
c.5335_5339delinsTCTGA (p.Ser1779=)
c.5407_5411delinsTCTGA (p.Ser1803=)
3g.38550905C>ACA352141049SCN5Ac.5464G>T (p.Glu1822Ter)
c.5467G>T (p.Glu1823Ter)
c.5413G>T (p.Glu1805Ter)
c.5305G>T (p.Glu1769Ter)
c.5368G>T (p.Glu1790Ter)
c.5338G>T (p.Glu1780Ter)
c.5410G>T (p.Glu1804Ter)
3g.38550905C=CA1358556876SCN5Ac.5464G= (p.Glu1822=)
c.5467G= (p.Glu1823=)
c.5413G= (p.Glu1805=)
c.5305G= (p.Glu1769=)
c.5368G= (p.Glu1790=)
c.5338G= (p.Glu1780=)
c.5410G= (p.Glu1804=)
3g.38550905C>GCA352141050SCN5Ac.5464G>C (p.Glu1822Gln)
c.5467G>C (p.Glu1823Gln)
c.5413G>C (p.Glu1805Gln)
c.5305G>C (p.Glu1769Gln)
c.5368G>C (p.Glu1790Gln)
c.5338G>C (p.Glu1780Gln)
c.5410G>C (p.Glu1804Gln)
 gnomAD v4
3g.38550905C>TCA064452SCN5Ac.5464G>A (p.Glu1822Lys)
c.5467G>A (p.Glu1823Lys)
c.5413G>A (p.Glu1805Lys)
c.5305G>A (p.Glu1769Lys)
c.5368G>A (p.Glu1790Lys)
c.5338G>A (p.Glu1780Lys)
c.5410G>A (p.Glu1804Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550908_38550911delCA019255SCN5Ac.5461_5464del (p.Glu1822HisfsTer10)
c.5464_5467del (p.Glu1823HisfsTer10)
c.5410_5413del (p.Glu1805HisfsTer10)
c.5302_5305del (p.Glu1769HisfsTer10)
c.5365_5368del (p.Glu1790HisfsTer10)
c.5335_5338del (p.Glu1780HisfsTer10)
c.5407_5410del (p.Glu1804HisfsTer10)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38550906A>CCA433332269SCN5Ac.5463T>G (p.Ser1821=)
c.5466T>G (p.Ser1822=)
c.5412T>G (p.Ser1804=)
c.5304T>G (p.Ser1768=)
c.5367T>G (p.Ser1789=)
c.5337T>G (p.Ser1779=)
c.5409T>G (p.Ser1803=)
3g.38550906A>GCA433332270SCN5Ac.5463T>C (p.Ser1821=)
c.5466T>C (p.Ser1822=)
c.5412T>C (p.Ser1804=)
c.5304T>C (p.Ser1768=)
c.5367T>C (p.Ser1789=)
c.5337T>C (p.Ser1779=)
c.5409T>C (p.Ser1803=)
3g.38550906A>TCA433332272SCN5Ac.5463T>A (p.Ser1821=)
c.5466T>A (p.Ser1822=)
c.5412T>A (p.Ser1804=)
c.5304T>A (p.Ser1768=)
c.5367T>A (p.Ser1789=)
c.5337T>A (p.Ser1779=)
c.5409T>A (p.Ser1803=)
3g.38550907G>ACA352141051SCN5Ac.5462C>T (p.Ser1821Phe)
c.5465C>T (p.Ser1822Phe)
c.5411C>T (p.Ser1804Phe)
c.5303C>T (p.Ser1768Phe)
c.5366C>T (p.Ser1789Phe)
c.5336C>T (p.Ser1779Phe)
c.5408C>T (p.Ser1803Phe)
3g.38550907G>CCA352141052SCN5Ac.5462C>G (p.Ser1821Cys)
c.5465C>G (p.Ser1822Cys)
c.5411C>G (p.Ser1804Cys)
c.5303C>G (p.Ser1768Cys)
c.5366C>G (p.Ser1789Cys)
c.5336C>G (p.Ser1779Cys)
c.5408C>G (p.Ser1803Cys)
3g.38550907G>TCA352141053SCN5Ac.5462C>A (p.Ser1821Tyr)
c.5465C>A (p.Ser1822Tyr)
c.5411C>A (p.Ser1804Tyr)
c.5303C>A (p.Ser1768Tyr)
c.5366C>A (p.Ser1789Tyr)
c.5336C>A (p.Ser1779Tyr)
c.5408C>A (p.Ser1803Tyr)
3g.38550908A>CCA352141054SCN5Ac.5461T>G (p.Ser1821Ala)
c.5464T>G (p.Ser1822Ala)
c.5410T>G (p.Ser1804Ala)
c.5302T>G (p.Ser1768Ala)
c.5365T>G (p.Ser1789Ala)
c.5335T>G (p.Ser1779Ala)
c.5407T>G (p.Ser1803Ala)
3g.38550908A>GCA352141055SCN5Ac.5461T>C (p.Ser1821Pro)
c.5464T>C (p.Ser1822Pro)
c.5410T>C (p.Ser1804Pro)
c.5302T>C (p.Ser1768Pro)
c.5365T>C (p.Ser1789Pro)
c.5335T>C (p.Ser1779Pro)
c.5407T>C (p.Ser1803Pro)
3g.38550908A>TCA352141056SCN5Ac.5461T>A (p.Ser1821Thr)
c.5464T>A (p.Ser1822Thr)
c.5410T>A (p.Ser1804Thr)
c.5302T>A (p.Ser1768Thr)
c.5365T>A (p.Ser1789Thr)
c.5335T>A (p.Ser1779Thr)
c.5407T>A (p.Ser1803Thr)
 ClinVar gnomAD v4
3g.38550909C>ACA433332273SCN5Ac.5460G>T (p.Leu1820=)
c.5463G>T (p.Leu1821=)
c.5409G>T (p.Leu1803=)
c.5301G>T (p.Leu1767=)
c.5364G>T (p.Leu1788=)
c.5334G>T (p.Leu1778=)
c.5406G>T (p.Leu1802=)
3g.38550909C>GCA433332275SCN5Ac.5460G>C (p.Leu1820=)
c.5463G>C (p.Leu1821=)
c.5409G>C (p.Leu1803=)
c.5301G>C (p.Leu1767=)
c.5364G>C (p.Leu1788=)
c.5334G>C (p.Leu1778=)
c.5406G>C (p.Leu1802=)
 ClinVar
3g.38550909C>TCA433332276SCN5Ac.5460G>A (p.Leu1820=)
c.5463G>A (p.Leu1821=)
c.5409G>A (p.Leu1803=)
c.5301G>A (p.Leu1767=)
c.5364G>A (p.Leu1788=)
c.5334G>A (p.Leu1778=)
c.5406G>A (p.Leu1802=)
 ClinVar dbSNP gnomAD v4
3g.38550909_38550911delinsCAGCA1358556880SCN5Ac.5458_5460delinsCTG (p.Leu1820=)
c.5461_5463delinsCTG (p.Leu1821=)
c.5407_5409delinsCTG (p.Leu1803=)
c.5299_5301delinsCTG (p.Leu1767=)
c.5362_5364delinsCTG (p.Leu1788=)
c.5332_5334delinsCTG (p.Leu1778=)
c.5404_5406delinsCTG (p.Leu1802=)
3g.38550910A>CCA352141057SCN5Ac.5459T>G (p.Leu1820Arg)
c.5462T>G (p.Leu1821Arg)
c.5408T>G (p.Leu1803Arg)
c.5300T>G (p.Leu1767Arg)
c.5363T>G (p.Leu1788Arg)
c.5333T>G (p.Leu1778Arg)
c.5405T>G (p.Leu1802Arg)
3g.38550910A>GCA352141058SCN5Ac.5459T>C (p.Leu1820Pro)
c.5462T>C (p.Leu1821Pro)
c.5408T>C (p.Leu1803Pro)
c.5300T>C (p.Leu1767Pro)
c.5363T>C (p.Leu1788Pro)
c.5333T>C (p.Leu1778Pro)
c.5405T>C (p.Leu1802Pro)
3g.38550910A>TCA352141059SCN5Ac.5459T>A (p.Leu1820Gln)
c.5462T>A (p.Leu1821Gln)
c.5408T>A (p.Leu1803Gln)
c.5300T>A (p.Leu1767Gln)
c.5363T>A (p.Leu1788Gln)
c.5333T>A (p.Leu1778Gln)
c.5405T>A (p.Leu1802Gln)
3g.38550910_38550911delCA658655809SCN5Ac.5458_5459del (p.Leu1820ValfsTer2)
c.5461_5462del (p.Leu1821ValfsTer2)
c.5407_5408del (p.Leu1803ValfsTer2)
c.5299_5300del (p.Leu1767ValfsTer2)
c.5362_5363del (p.Leu1788ValfsTer2)
c.5332_5333del (p.Leu1778ValfsTer2)
c.5404_5405del (p.Leu1802ValfsTer2)
 ClinVar dbSNP
3g.38550911G>ACA433332280SCN5Ac.5458C>T (p.Leu1820=)
c.5461C>T (p.Leu1821=)
c.5407C>T (p.Leu1803=)
c.5299C>T (p.Leu1767=)
c.5362C>T (p.Leu1788=)
c.5332C>T (p.Leu1778=)
c.5404C>T (p.Leu1802=)
3g.38550911G>CCA352141060SCN5Ac.5458C>G (p.Leu1820Val)
c.5461C>G (p.Leu1821Val)
c.5407C>G (p.Leu1803Val)
c.5299C>G (p.Leu1767Val)
c.5362C>G (p.Leu1788Val)
c.5332C>G (p.Leu1778Val)
c.5404C>G (p.Leu1802Val)
3g.38550911G>TCA352141061SCN5Ac.5458C>A (p.Leu1820Met)
c.5461C>A (p.Leu1821Met)
c.5407C>A (p.Leu1803Met)
c.5299C>A (p.Leu1767Met)
c.5362C>A (p.Leu1788Met)
c.5332C>A (p.Leu1778Met)
c.5404C>A (p.Leu1802Met)
3g.38550913delCA2586965760SCN5Ac.5458del (p.Leu1820CysfsTer13)
c.5461del (p.Leu1821CysfsTer13)
c.5407del (p.Leu1803CysfsTer13)
c.5299del (p.Leu1767CysfsTer13)
c.5362del (p.Leu1788CysfsTer13)
c.5332del (p.Leu1778CysfsTer13)
c.5404del (p.Leu1802CysfsTer13)
3g.38550912G>ACA433332281SCN5Ac.5457C>T (p.Ala1819=)
c.5460C>T (p.Ala1820=)
c.5406C>T (p.Ala1802=)
c.5298C>T (p.Ala1766=)
c.5361C>T (p.Ala1787=)
c.5331C>T (p.Ala1777=)
c.5403C>T (p.Ala1801=)
 ClinVar dbSNP
3g.38550912G>CCA433332283SCN5Ac.5457C>G (p.Ala1819=)
c.5460C>G (p.Ala1820=)
c.5406C>G (p.Ala1802=)
c.5298C>G (p.Ala1766=)
c.5361C>G (p.Ala1787=)
c.5331C>G (p.Ala1777=)
c.5403C>G (p.Ala1801=)
 ClinVar
3g.38550912G=CA1358556888SCN5Ac.5457C= (p.Ala1819=)
c.5460C= (p.Ala1820=)
c.5406C= (p.Ala1802=)
c.5298C= (p.Ala1766=)
c.5361C= (p.Ala1787=)
c.5331C= (p.Ala1777=)
c.5403C= (p.Ala1801=)
3g.38550912G>TCA433332284SCN5Ac.5457C>A (p.Ala1819=)
c.5460C>A (p.Ala1820=)
c.5406C>A (p.Ala1802=)
c.5298C>A (p.Ala1766=)
c.5361C>A (p.Ala1787=)
c.5331C>A (p.Ala1777=)
c.5403C>A (p.Ala1801=)
 dbSNP
3g.38550913G>ACA352141062SCN5Ac.5456C>T (p.Ala1819Val)
c.5459C>T (p.Ala1820Val)
c.5405C>T (p.Ala1802Val)
c.5297C>T (p.Ala1766Val)
c.5360C>T (p.Ala1787Val)
c.5330C>T (p.Ala1777Val)
c.5402C>T (p.Ala1801Val)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38550913G>CCA352141064SCN5Ac.5456C>G (p.Ala1819Gly)
c.5459C>G (p.Ala1820Gly)
c.5405C>G (p.Ala1802Gly)
c.5297C>G (p.Ala1766Gly)
c.5360C>G (p.Ala1787Gly)
c.5330C>G (p.Ala1777Gly)
c.5402C>G (p.Ala1801Gly)
3g.38550913G=CA1358556892SCN5Ac.5456C= (p.Ala1819=)
c.5459C= (p.Ala1820=)
c.5405C= (p.Ala1802=)
c.5297C= (p.Ala1766=)
c.5360C= (p.Ala1787=)
c.5330C= (p.Ala1777=)
c.5402C= (p.Ala1801=)
3g.38550913G>TCA352141063SCN5Ac.5456C>A (p.Ala1819Asp)
c.5459C>A (p.Ala1820Asp)
c.5405C>A (p.Ala1802Asp)
c.5297C>A (p.Ala1766Asp)
c.5360C>A (p.Ala1787Asp)
c.5330C>A (p.Ala1777Asp)
c.5402C>A (p.Ala1801Asp)
3g.38550914C>ACA352141065SCN5Ac.5455G>T (p.Ala1819Ser)
c.5458G>T (p.Ala1820Ser)
c.5404G>T (p.Ala1802Ser)
c.5296G>T (p.Ala1766Ser)
c.5359G>T (p.Ala1787Ser)
c.5329G>T (p.Ala1777Ser)
c.5401G>T (p.Ala1801Ser)
3g.38550914C=CA1358556895SCN5Ac.5455G= (p.Ala1819=)
c.5458G= (p.Ala1820=)
c.5404G= (p.Ala1802=)
c.5296G= (p.Ala1766=)
c.5359G= (p.Ala1787=)
c.5329G= (p.Ala1777=)
c.5401G= (p.Ala1801=)
3g.38550914C>GCA352141066SCN5Ac.5455G>C (p.Ala1819Pro)
c.5458G>C (p.Ala1820Pro)
c.5404G>C (p.Ala1802Pro)
c.5296G>C (p.Ala1766Pro)
c.5359G>C (p.Ala1787Pro)
c.5329G>C (p.Ala1777Pro)
c.5401G>C (p.Ala1801Pro)
3g.38550914C>TCA019251SCN5Ac.5455G>A (p.Ala1819Thr)
c.5458G>A (p.Ala1820Thr)
c.5404G>A (p.Ala1802Thr)
c.5296G>A (p.Ala1766Thr)
c.5359G>A (p.Ala1787Thr)
c.5329G>A (p.Ala1777Thr)
c.5401G>A (p.Ala1801Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550914_38550915delinsTGCA658796274SCN5Ac.5454_5455delinsCA (p.Ala1819Thr)
c.5457_5458delinsCA (p.Ala1820Thr)
c.5403_5404delinsCA (p.Ala1802Thr)
c.5295_5296delinsCA (p.Ala1766Thr)
c.5358_5359delinsCA (p.Ala1787Thr)
c.5328_5329delinsCA (p.Ala1777Thr)
c.5400_5401delinsCA (p.Ala1801Thr)
 ClinVar
3g.38550915A=CA1358556908SCN5Ac.5454T= (p.Asp1818=)
c.5457T= (p.Asp1819=)
c.5403T= (p.Asp1801=)
c.5295T= (p.Asp1765=)
c.5358T= (p.Asp1786=)
c.5328T= (p.Asp1776=)
c.5400T= (p.Asp1800=)
3g.38550915A>CCA352141067SCN5Ac.5454T>G (p.Asp1818Glu)
c.5457T>G (p.Asp1819Glu)
c.5403T>G (p.Asp1801Glu)
c.5295T>G (p.Asp1765Glu)
c.5358T>G (p.Asp1786Glu)
c.5328T>G (p.Asp1776Glu)
c.5400T>G (p.Asp1800Glu)
3g.38550915A>GCA019243SCN5Ac.5454T>C (p.Asp1818=)
c.5457T>C (p.Asp1819=)
c.5403T>C (p.Asp1801=)
c.5295T>C (p.Asp1765=)
c.5358T>C (p.Asp1786=)
c.5328T>C (p.Asp1776=)
c.5400T>C (p.Asp1800=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38550915A>TCA352141068SCN5Ac.5454T>A (p.Asp1818Glu)
c.5457T>A (p.Asp1819Glu)
c.5403T>A (p.Asp1801Glu)
c.5295T>A (p.Asp1765Glu)
c.5358T>A (p.Asp1786Glu)
c.5328T>A (p.Asp1776Glu)
c.5400T>A (p.Asp1800Glu)

Number of alleles fetched