Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38581211_38581220dupCA2586972019SCN5Ac.2942_2951dup (p.Arg986TrpfsTer?)
c.2813_2822dup (p.Arg943TrpfsTer?)
3g.38581210A=CA1358574490SCN5Ac.2949T= (p.Gly983=)
c.2820T= (p.Gly940=)
3g.38581210A>CCA433332551SCN5Ac.2949T>G (p.Gly983=)
c.2820T>G (p.Gly940=)
gnomAD v4
3g.38581210A>GCA433332552SCN5Ac.2949T>C (p.Gly983=)
c.2820T>C (p.Gly940=)
3g.38581210A>TCA061054SCN5Ac.2949T>A (p.Gly983=)
c.2820T>A (p.Gly940=)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38581210_38581211delCA2531235771SCN5Ac.2948_2949del (p.Gly983AlafsTer?)
c.2819_2820del (p.Gly940AlafsTer?)
3g.38581211C>ACA352140119SCN5Ac.2948G>T (p.Gly983Val)
c.2819G>T (p.Gly940Val)
3g.38581211C=CA1358574492SCN5Ac.2948G= (p.Gly983=)
c.2819G= (p.Gly940=)
3g.38581211C>GCA352140116SCN5Ac.2948G>C (p.Gly983Ala)
c.2819G>C (p.Gly940Ala)
3g.38581211C>TCA061050SCN5Ac.2948G>A (p.Gly983Asp)
c.2819G>A (p.Gly940Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581212C>ACA352140120SCN5Ac.2947G>T (p.Gly983Cys)
c.2818G>T (p.Gly940Cys)
3g.38581212C>GCA352140122SCN5Ac.2947G>C (p.Gly983Arg)
c.2818G>C (p.Gly940Arg)
3g.38581212C>TCA352140124SCN5Ac.2947G>A (p.Gly983Ser)
c.2818G>A (p.Gly940Ser)
3g.38581213A=CA1358574493SCN5Ac.2946T= (p.Cys982=)
c.2817T= (p.Cys939=)
3g.38581213A>CCA352140125SCN5Ac.2946T>G (p.Cys982Trp)
c.2817T>G (p.Cys939Trp)
3g.38581213A>GCA433332553SCN5Ac.2946T>C (p.Cys982=)
c.2817T>C (p.Cys939=)
3g.38581213A>TCA352140126SCN5Ac.2946T>A (p.Cys982Ter)
c.2817T>A (p.Cys939Ter)
ClinVar dbSNP
3g.38581214C>ACA352140128SCN5Ac.2945G>T (p.Cys982Phe)
c.2816G>T (p.Cys939Phe)
3g.38581214C=CA1358574495SCN5Ac.2945G= (p.Cys982=)
c.2816G= (p.Cys939=)
3g.38581214C>GCA352140130SCN5Ac.2945G>C (p.Cys982Ser)
c.2816G>C (p.Cys939Ser)
3g.38581214C>TCA352140132SCN5Ac.2945G>A (p.Cys982Tyr)
c.2816G>A (p.Cys939Tyr)
ClinVar dbSNP
3g.38581214_38581215insGCCA2565886970SCN5Ac.2945_2946insCG (p.Gly983ValfsTer?)
c.2816_2817insCG (p.Gly940ValfsTer?)
3g.38581215A=CA1358574497SCN5Ac.2944T= (p.Cys982=)
c.2815T= (p.Cys939=)
3g.38581215A>CCA352140134SCN5Ac.2944T>G (p.Cys982Gly)
c.2815T>G (p.Cys939Gly)
3g.38581215A>GCA016652SCN5Ac.2944T>C (p.Cys982Arg)
c.2815T>C (p.Cys939Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581215A>TCA352140137SCN5Ac.2944T>A (p.Cys982Ser)
c.2815T>A (p.Cys939Ser)
3g.38581216G>ACA433332554SCN5Ac.2943C>T (p.Cys981=)
c.2814C>T (p.Cys938=)
3g.38581216G>CCA352140139SCN5Ac.2943C>G (p.Cys981Trp)
c.2814C>G (p.Cys938Trp)
3g.38581216G>TCA352140141SCN5Ac.2943C>A (p.Cys981Ter)
c.2814C>A (p.Cys938Ter)
3g.38581217C>ACA016644SCN5Ac.2942G>T (p.Cys981Phe)
c.2813G>T (p.Cys938Phe)
ClinVar dbSNP
3g.38581217C=CA1358574500SCN5Ac.2942G= (p.Cys981=)
c.2813G= (p.Cys938=)
3g.38581217C>GCA352140145SCN5Ac.2942G>C (p.Cys981Ser)
c.2813G>C (p.Cys938Ser)
3g.38581217C>TCA352140144SCN5Ac.2942G>A (p.Cys981Tyr)
c.2813G>A (p.Cys938Tyr)
gnomAD v4
3g.38581218A>CCA352140148SCN5Ac.2941T>G (p.Cys981Gly)
c.2812T>G (p.Cys938Gly)
3g.38581218A>GCA352140150SCN5Ac.2941T>C (p.Cys981Arg)
c.2812T>C (p.Cys938Arg)
3g.38581218A>TCA352140151SCN5Ac.2941T>A (p.Cys981Ser)
c.2812T>A (p.Cys938Ser)
3g.38581219G>ACA433332555SCN5Ac.2940C>T (p.Phe980=)
c.2811C>T (p.Phe937=)
3g.38581219G>CCA352140154SCN5Ac.2940C>G (p.Phe980Leu)
c.2811C>G (p.Phe937Leu)
3g.38581219G>TCA352140155SCN5Ac.2940C>A (p.Phe980Leu)
c.2811C>A (p.Phe937Leu)
3g.38581220A>CCA352140157SCN5Ac.2939T>G (p.Phe980Cys)
c.2810T>G (p.Phe937Cys)
3g.38581220A>GCA352140159SCN5Ac.2939T>C (p.Phe980Ser)
c.2810T>C (p.Phe937Ser)
3g.38581220A>TCA352140161SCN5Ac.2939T>A (p.Phe980Tyr)
c.2810T>A (p.Phe937Tyr)
3g.38581221A>CCA352140163SCN5Ac.2938T>G (p.Phe980Val)
c.2809T>G (p.Phe937Val)
3g.38581221A>GCA352140165SCN5Ac.2938T>C (p.Phe980Leu)
c.2809T>C (p.Phe937Leu)
3g.38581221A>TCA352140167SCN5Ac.2938T>A (p.Phe980Ile)
c.2809T>A (p.Phe937Ile)
3g.38581222A=CA1358574502SCN5Ac.2937T= (p.Asp979=)
c.2808T= (p.Asp936=)
3g.38581222A>CCA352140169SCN5Ac.2937T>G (p.Asp979Glu)
c.2808T>G (p.Asp936Glu)
3g.38581222A>GCA433332556SCN5Ac.2937T>C (p.Asp979=)
c.2808T>C (p.Asp936=)
3g.38581222A>TCA352140171SCN5Ac.2937T>A (p.Asp979Glu)
c.2808T>A (p.Asp936Glu)
dbSNP gnomAD v3 gnomAD v4
3g.38581223T>ACA352140176SCN5Ac.2936A>T (p.Asp979Val)
c.2807A>T (p.Asp936Val)
3g.38581223T>CCA352140173SCN5Ac.2936A>G (p.Asp979Gly)
c.2807A>G (p.Asp936Gly)
dbSNP gnomAD v2
3g.38581223T>GCA352140175SCN5Ac.2936A>C (p.Asp979Ala)
c.2807A>C (p.Asp936Ala)
3g.38581223T=CA1358574503SCN5Ac.2936A= (p.Asp979=)
c.2807A= (p.Asp936=)
3g.38581224C>ACA352140178SCN5Ac.2935G>T (p.Asp979Tyr)
c.2806G>T (p.Asp936Tyr)
3g.38581224C=CA1358574505SCN5Ac.2935G= (p.Asp979=)
c.2806G= (p.Asp936=)
3g.38581224C>GCA061043SCN5Ac.2935G>C (p.Asp979His)
c.2806G>C (p.Asp936His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581224C>TCA72926366SCN5Ac.2935G>A (p.Asp979Asn)
c.2806G>A (p.Asp936Asn)
dbSNP
3g.38581225C>ACA352140179SCN5Ac.2934G>T (p.Trp978Cys)
c.2805G>T (p.Trp935Cys)
3g.38581225C=CA1358574507SCN5Ac.2934G= (p.Trp978=)
c.2805G= (p.Trp935=)
3g.38581225C>GCA352140180SCN5Ac.2934G>C (p.Trp978Cys)
c.2805G>C (p.Trp935Cys)
3g.38581225C>TCA352140182SCN5Ac.2934G>A (p.Trp978Ter)
c.2805G>A (p.Trp935Ter)
dbSNP COSMIC COSMIC COSMIC
3g.38581226C>ACA352140184SCN5Ac.2933G>T (p.Trp978Leu)
c.2804G>T (p.Trp935Leu)
3g.38581226C=CA1358574510SCN5Ac.2933G= (p.Trp978=)
c.2804G= (p.Trp935=)
3g.38581226C>GCA352140186SCN5Ac.2933G>C (p.Trp978Ser)
c.2804G>C (p.Trp935Ser)
3g.38581226C>TCA16611275SCN5Ac.2933G>A (p.Trp978Ter)
c.2804G>A (p.Trp935Ter)
ClinVar dbSNP
3g.38581227A>CCA352140189SCN5Ac.2932T>G (p.Trp978Gly)
c.2803T>G (p.Trp935Gly)
3g.38581227A>GCA352140191SCN5Ac.2932T>C (p.Trp978Arg)
c.2803T>C (p.Trp935Arg)
3g.38581227A>TCA352140193SCN5Ac.2932T>A (p.Trp978Arg)
c.2803T>A (p.Trp935Arg)
3g.38581228G>ACA433332557SCN5Ac.2931C>T (p.Thr977=)
c.2802C>T (p.Thr934=)
3g.38581228G>CCA061039SCN5Ac.2931C>G (p.Thr977=)
c.2802C>G (p.Thr934=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581228G=CA1358574512SCN5Ac.2931C= (p.Thr977=)
c.2802C= (p.Thr934=)
3g.38581228G>TCA433332558SCN5Ac.2931C>A (p.Thr977=)
c.2802C>A (p.Thr934=)
3g.38581229G>ACA352140197SCN5Ac.2930C>T (p.Thr977Ile)
c.2801C>T (p.Thr934Ile)
3g.38581229G>CCA352140195SCN5Ac.2930C>G (p.Thr977Ser)
c.2801C>G (p.Thr934Ser)
3g.38581229G>TCA352140199SCN5Ac.2930C>A (p.Thr977Asn)
c.2801C>A (p.Thr934Asn)
3g.38581230T>ACA352140202SCN5Ac.2929A>T (p.Thr977Ser)
c.2800A>T (p.Thr934Ser)
gnomAD v4
3g.38581230T>CCA352140206SCN5Ac.2929A>G (p.Thr977Ala)
c.2800A>G (p.Thr934Ala)
3g.38581230T>GCA352140203SCN5Ac.2929A>C (p.Thr977Pro)
c.2800A>C (p.Thr934Pro)
3g.38581231G>ACA433332559SCN5Ac.2928C>T (p.Thr976=)
c.2799C>T (p.Thr933=)
3g.38581231G>CCA433332560SCN5Ac.2928C>G (p.Thr976=)
c.2799C>G (p.Thr933=)
3g.38581231G>TCA433332561SCN5Ac.2928C>A (p.Thr976=)
c.2799C>A (p.Thr933=)
3g.38581232G>ACA352140208SCN5Ac.2927C>T (p.Thr976Ile)
c.2798C>T (p.Thr933Ile)
3g.38581232G>CCA352140212SCN5Ac.2927C>G (p.Thr976Ser)
c.2798C>G (p.Thr933Ser)
3g.38581232G>TCA352140209SCN5Ac.2927C>A (p.Thr976Asn)
c.2798C>A (p.Thr933Asn)
3g.38581233T>ACA352140214SCN5Ac.2926A>T (p.Thr976Ser)
c.2797A>T (p.Thr933Ser)
3g.38581233T>CCA352140216SCN5Ac.2926A>G (p.Thr976Ala)
c.2797A>G (p.Thr933Ala)
3g.38581233T>GCA352140217SCN5Ac.2926A>C (p.Thr976Pro)
c.2797A>C (p.Thr933Pro)
3g.38581234C>ACA433332562SCN5Ac.2925G>T (p.Arg975=)
c.2796G>T (p.Arg932=)
gnomAD v4
3g.38581234C=CA1358574514SCN5Ac.2925G= (p.Arg975=)
c.2796G= (p.Arg932=)
3g.38581234C>GCA72926371SCN5Ac.2925G>C (p.Arg975=)
c.2796G>C (p.Arg932=)
ClinVar dbSNP
3g.38581234C>TCA433332563SCN5Ac.2925G>A (p.Arg975=)
c.2796G>A (p.Arg932=)
ClinVar dbSNP
3g.38581235C>ACA352140220SCN5Ac.2924G>T (p.Arg975Leu)
c.2795G>T (p.Arg932Leu)
3g.38581235C=CA1358574517SCN5Ac.2924G= (p.Arg975=)
c.2795G= (p.Arg932=)
3g.38581235C>GCA352140222SCN5Ac.2924G>C (p.Arg975Pro)
c.2795G>C (p.Arg932Pro)
ClinVar dbSNP
3g.38581235C>TCA016636SCN5Ac.2924G>A (p.Arg975Gln)
c.2795G>A (p.Arg932Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38581236G>ACA016625SCN5Ac.2923C>T (p.Arg975Trp)
c.2794C>T (p.Arg932Trp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581236G>CCA352140226SCN5Ac.2923C>G (p.Arg975Gly)
c.2794C>G (p.Arg932Gly)
3g.38581236G=CA1358574519SCN5Ac.2923C= (p.Arg975=)
c.2794C= (p.Arg932=)
3g.38581236G>TCA433332564SCN5Ac.2923C>A (p.Arg975=)
c.2794C>A (p.Arg932=)
ClinVar
3g.38581238_38581247delCA2586972020SCN5Ac.2914_2923del (p.Phe972GlyfsTer?)
c.2785_2794del (p.Phe929GlyfsTer?)
3g.38581237C>ACA352140228SCN5Ac.2922G>T (p.Lys974Asn)
c.2793G>T (p.Lys931Asn)
3g.38581237C>GCA352140230SCN5Ac.2922G>C (p.Lys974Asn)
c.2793G>C (p.Lys931Asn)
3g.38581237C>TCA433332565SCN5Ac.2922G>A (p.Lys974=)
c.2793G>A (p.Lys931=)
3g.38581238T>ACA352140234SCN5Ac.2921A>T (p.Lys974Met)
c.2792A>T (p.Lys931Met)
3g.38581238T>CCA352140232SCN5Ac.2921A>G (p.Lys974Arg)
c.2792A>G (p.Lys931Arg)
ClinVar dbSNP gnomAD v4
3g.38581238T>GCA352140233SCN5Ac.2921A>C (p.Lys974Thr)
c.2792A>C (p.Lys931Thr)
3g.38581238T=CA1358574520SCN5Ac.2921A= (p.Lys974=)
c.2792A= (p.Lys931=)
3g.38581239T>ACA352140237SCN5Ac.2920A>T (p.Lys974Ter)
c.2791A>T (p.Lys931Ter)
dbSNP
3g.38581239T>CCA352140239SCN5Ac.2920A>G (p.Lys974Glu)
c.2791A>G (p.Lys931Glu)
3g.38581239T>GCA352140241SCN5Ac.2920A>C (p.Lys974Gln)
c.2791A>C (p.Lys931Gln)
3g.38581239T=CA1358574522SCN5Ac.2920A= (p.Lys974=)
c.2791A= (p.Lys931=)
3g.38581240G>ACA433332566SCN5Ac.2919C>T (p.Val973=)
c.2790C>T (p.Val930=)
3g.38581240G>CCA061025SCN5Ac.2919C>G (p.Val973=)
c.2790C>G (p.Val930=)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581240G=CA1358574524SCN5Ac.2919C= (p.Val973=)
c.2790C= (p.Val930=)
3g.38581240G>TCA433332567SCN5Ac.2919C>A (p.Val973=)
c.2790C>A (p.Val930=)
gnomAD v4
3g.38581241A>CCA352140245SCN5Ac.2918T>G (p.Val973Gly)
c.2789T>G (p.Val930Gly)
3g.38581241A>GCA352140247SCN5Ac.2918T>C (p.Val973Ala)
c.2789T>C (p.Val930Ala)
3g.38581241A>TCA352140248SCN5Ac.2918T>A (p.Val973Asp)
c.2789T>A (p.Val930Asp)
3g.38581242C>ACA352140250SCN5Ac.2917G>T (p.Val973Phe)
c.2788G>T (p.Val930Phe)
COSMIC COSMIC COSMIC
3g.38581242C>GCA352140252SCN5Ac.2917G>C (p.Val973Leu)
c.2788G>C (p.Val930Leu)
3g.38581242C>TCA352140254SCN5Ac.2917G>A (p.Val973Ile)
c.2788G>A (p.Val930Ile)
3g.38581243A>CCA352140258SCN5Ac.2916T>G (p.Phe972Leu)
c.2787T>G (p.Phe929Leu)
3g.38581243A>GCA433332568SCN5Ac.2916T>C (p.Phe972=)
c.2787T>C (p.Phe929=)
3g.38581243A>TCA352140256SCN5Ac.2916T>A (p.Phe972Leu)
c.2787T>A (p.Phe929Leu)
3g.38581244A=CA1358574526SCN5Ac.2915T= (p.Phe972=)
c.2786T= (p.Phe929=)
3g.38581244A>CCA352140260SCN5Ac.2915T>G (p.Phe972Cys)
c.2786T>G (p.Phe929Cys)
3g.38581244A>GCA352140262SCN5Ac.2915T>C (p.Phe972Ser)
c.2786T>C (p.Phe929Ser)
dbSNP
3g.38581244A>TCA352140264SCN5Ac.2915T>A (p.Phe972Tyr)
c.2786T>A (p.Phe929Tyr)
3g.38581245A>CCA352140267SCN5Ac.2914T>G (p.Phe972Val)
c.2785T>G (p.Phe929Val)
3g.38581245A>GCA352140269SCN5Ac.2914T>C (p.Phe972Leu)
c.2785T>C (p.Phe929Leu)
3g.38581245A>TCA352140271SCN5Ac.2914T>A (p.Phe972Ile)
c.2785T>A (p.Phe929Ile)
3g.38581246G>ACA433332569SCN5Ac.2913C>T (p.Arg971=)
c.2784C>T (p.Arg928=)
3g.38581246G>CCA433332570SCN5Ac.2913C>G (p.Arg971=)
c.2784C>G (p.Arg928=)
dbSNP gnomAD v2 gnomAD v4
3g.38581246G=CA1358574527SCN5Ac.2913C= (p.Arg971=)
c.2784C= (p.Arg928=)
3g.38581246G>TCA433332571SCN5Ac.2913C>A (p.Arg971=)
c.2784C>A (p.Arg928=)
3g.38581247C>ACA352140273SCN5Ac.2912G>T (p.Arg971Leu)
c.2783G>T (p.Arg928Leu)
3g.38581247C=CA1358574530SCN5Ac.2912G= (p.Arg971=)
c.2783G= (p.Arg928=)
3g.38581247C>GCA352140275SCN5Ac.2912G>C (p.Arg971Pro)
c.2783G>C (p.Arg928Pro)
3g.38581247C>TCA061020SCN5Ac.2912G>A (p.Arg971His)
c.2783G>A (p.Arg928His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38581248G>ACA016616SCN5Ac.2911C>T (p.Arg971Cys)
c.2782C>T (p.Arg928Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581248G>CCA72926384SCN5Ac.2911C>G (p.Arg971Gly)
c.2782C>G (p.Arg928Gly)
dbSNP gnomAD v4
3g.38581248G=CA1358574532SCN5Ac.2911C= (p.Arg971=)
c.2782C= (p.Arg928=)
3g.38581248G>TCA352140278SCN5Ac.2911C>A (p.Arg971Ser)
c.2782C>A (p.Arg928Ser)
3g.38581249C>ACA433332572SCN5Ac.2910G>T (p.Leu970=)
c.2781G>T (p.Leu927=)
3g.38581249C>GCA433332573SCN5Ac.2910G>C (p.Leu970=)
c.2781G>C (p.Leu927=)
3g.38581249C>TCA433332574SCN5Ac.2910G>A (p.Leu970=)
c.2781G>A (p.Leu927=)
3g.38581250A=CA1358574534SCN5Ac.2909T= (p.Leu970=)
c.2780T= (p.Leu927=)
3g.38581250A>CCA352140283SCN5Ac.2909T>G (p.Leu970Arg)
c.2780T>G (p.Leu927Arg)
3g.38581250A>GCA72926387SCN5Ac.2909T>C (p.Leu970Pro)
c.2780T>C (p.Leu927Pro)
dbSNP
3g.38581250A>TCA352140280SCN5Ac.2909T>A (p.Leu970Gln)
c.2780T>A (p.Leu927Gln)
3g.38581251G>ACA433332575SCN5Ac.2908C>T (p.Leu970=)
c.2779C>T (p.Leu927=)
3g.38581251G>CCA352140285SCN5Ac.2908C>G (p.Leu970Val)
c.2779C>G (p.Leu927Val)
3g.38581251G=CA1358574535SCN5Ac.2908C= (p.Leu970=)
c.2779C= (p.Leu927=)
3g.38581251G>TCA352140287SCN5Ac.2908C>A (p.Leu970Met)
c.2779C>A (p.Leu927Met)
dbSNP gnomAD v2
3g.38581252G>ACA433332576SCN5Ac.2907C>T (p.Gly969=)
c.2778C>T (p.Gly926=)
dbSNP
3g.38581252G>CCA433332577SCN5Ac.2907C>G (p.Gly969=)
c.2778C>G (p.Gly926=)
3g.38581252G=CA1358574536SCN5Ac.2907C= (p.Gly969=)
c.2778C= (p.Gly926=)
3g.38581252G>TCA433332578SCN5Ac.2907C>A (p.Gly969=)
c.2778C>A (p.Gly926=)
3g.38581253C>ACA352140290SCN5Ac.2906G>T (p.Gly969Val)
c.2777G>T (p.Gly926Val)
ClinVar dbSNP
3g.38581253C=CA1358574538SCN5Ac.2906G= (p.Gly969=)
c.2777G= (p.Gly926=)
3g.38581253C>GCA352140292SCN5Ac.2906G>C (p.Gly969Ala)
c.2777G>C (p.Gly926Ala)
gnomAD v4
3g.38581253C>TCA352140293SCN5Ac.2906G>A (p.Gly969Asp)
c.2777G>A (p.Gly926Asp)
3g.38581254C>ACA061011SCN5Ac.2905G>T (p.Gly969Cys)
c.2776G>T (p.Gly926Cys)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581254C=CA1358574540SCN5Ac.2905G= (p.Gly969=)
c.2776G= (p.Gly926=)
3g.38581254C>GCA352140297SCN5Ac.2905G>C (p.Gly969Arg)
c.2776G>C (p.Gly926Arg)
3g.38581254C>TCA352140299SCN5Ac.2905G>A (p.Gly969Ser)
c.2776G>A (p.Gly926Ser)
dbSNP gnomAD v2 gnomAD v4
3g.38581255C>ACA352140301SCN5Ac.2904G>T (p.Arg968Ser)
c.2775G>T (p.Arg925Ser)
3g.38581255C=CA1358574541SCN5Ac.2904G= (p.Arg968=)
c.2775G= (p.Arg925=)
3g.38581255C>GCA352140303SCN5Ac.2904G>C (p.Arg968Ser)
c.2775G>C (p.Arg925Ser)
3g.38581255C>TCA72926392SCN5Ac.2904G>A (p.Arg968=)
c.2775G>A (p.Arg925=)
ClinVar dbSNP gnomAD v4
3g.38581256C>ACA352140306SCN5Ac.2903G>T (p.Arg968Met)
c.2774G>T (p.Arg925Met)
3g.38581256C>GCA352140309SCN5Ac.2903G>C (p.Arg968Thr)
c.2774G>C (p.Arg925Thr)
3g.38581256C>TCA352140310SCN5Ac.2903G>A (p.Arg968Lys)
c.2774G>A (p.Arg925Lys)
3g.38581257delCA2665113035SCN5Ac.2902del (p.Arg968GlyfsTer?)
c.2773del (p.Arg925GlyfsTer?)
gnomAD v4
3g.38581257T>ACA352140313SCN5Ac.2902A>T (p.Arg968Trp)
c.2773A>T (p.Arg925Trp)
3g.38581257T>CCA352140311SCN5Ac.2902A>G (p.Arg968Gly)
c.2773A>G (p.Arg925Gly)
3g.38581257T>GCA433332579SCN5Ac.2902A>C (p.Arg968=)
c.2773A>C (p.Arg925=)
3g.38581258C>ACA352140315SCN5Ac.2901G>T (p.Gln967His)
c.2772G>T (p.Gln924His)
3g.38581258C>GCA352140317SCN5Ac.2901G>C (p.Gln967His)
c.2772G>C (p.Gln924His)
gnomAD v4
3g.38581258C>TCA433332580SCN5Ac.2901G>A (p.Gln967=)
c.2772G>A (p.Gln924=)
gnomAD v4
3g.38581258_38581259delinsCTCA1358574543SCN5Ac.2900_2901delinsAG (p.Gln967=)
c.2771_2772delinsAG (p.Gln924=)
3g.38581259delCA916079944SCN5Ac.2900del (p.Gln967ArgfsTer?)
c.2771del (p.Gln924ArgfsTer?)
ClinVar dbSNP
3g.38581259T>ACA352140319SCN5Ac.2900A>T (p.Gln967Leu)
c.2771A>T (p.Gln924Leu)
3g.38581259T>CCA352140320SCN5Ac.2900A>G (p.Gln967Arg)
c.2771A>G (p.Gln924Arg)
dbSNP gnomAD v2 gnomAD v4
3g.38581259T>GCA352140322SCN5Ac.2900A>C (p.Gln967Pro)
c.2771A>C (p.Gln924Pro)
3g.38581259T=CA1358574545SCN5Ac.2900A= (p.Gln967=)
c.2771A= (p.Gln924=)
3g.38581260G>ACA352140324SCN5Ac.2899C>T (p.Gln967Ter)
c.2770C>T (p.Gln924Ter)
3g.38581260G>CCA352140325SCN5Ac.2899C>G (p.Gln967Glu)
c.2770C>G (p.Gln924Glu)
3g.38581260G>TCA352140327SCN5Ac.2899C>A (p.Gln967Lys)
c.2770C>A (p.Gln924Lys)
3g.38581261G>ACA433332581SCN5Ac.2898C>T (p.Ile966=)
c.2769C>T (p.Ile923=)
3g.38581261G>CCA352140329SCN5Ac.2898C>G (p.Ile966Met)
c.2769C>G (p.Ile923Met)
gnomAD v4
3g.38581261G=CA1358574547SCN5Ac.2898C= (p.Ile966=)
c.2769C= (p.Ile923=)
3g.38581261G>TCA433332582SCN5Ac.2898C>A (p.Ile966=)
c.2769C>A (p.Ile923=)
ClinVar dbSNP gnomAD v4
3g.38581262A>CCA352140331SCN5Ac.2897T>G (p.Ile966Ser)
c.2768T>G (p.Ile923Ser)
3g.38581262A>GCA352140332SCN5Ac.2897T>C (p.Ile966Thr)
c.2768T>C (p.Ile923Thr)
gnomAD v4
3g.38581262A>TCA352140333SCN5Ac.2897T>A (p.Ile966Asn)
c.2768T>A (p.Ile923Asn)
ClinVar
3g.38581263T>ACA352140336SCN5Ac.2896A>T (p.Ile966Phe)
c.2767A>T (p.Ile923Phe)
3g.38581263T>CCA352140337SCN5Ac.2896A>G (p.Ile966Val)
c.2767A>G (p.Ile923Val)
ClinVar dbSNP gnomAD v4
3g.38581263T>GCA352140339SCN5Ac.2896A>C (p.Ile966Leu)
c.2767A>C (p.Ile923Leu)
3g.38581263T=CA1358574549SCN5Ac.2896A= (p.Ile966=)
c.2767A= (p.Ile923=)
3g.38581264G>ACA433332583SCN5Ac.2895C>T (p.Arg965=)
c.2766C>T (p.Arg922=)
3g.38581264G>CCA433332584SCN5Ac.2895C>G (p.Arg965=)
c.2766C>G (p.Arg922=)
3g.38581264G>TCA433332585SCN5Ac.2895C>A (p.Arg965=)
c.2766C>A (p.Arg922=)
3g.38581265C>ACA016609SCN5Ac.2894G>T (p.Arg965Leu)
c.2765G>T (p.Arg922Leu)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38581265C=CA1358574550SCN5Ac.2894G= (p.Arg965=)
c.2765G= (p.Arg922=)
3g.38581265C>GCA352140342SCN5Ac.2894G>C (p.Arg965Pro)
c.2765G>C (p.Arg922Pro)
3g.38581265C>TCA016602SCN5Ac.2894G>A (p.Arg965His)
c.2765G>A (p.Arg922His)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38581266G>ACA016594SCN5Ac.2893C>T (p.Arg965Cys)
c.2764C>T (p.Arg922Cys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
3g.38581266G>CCA061002SCN5Ac.2893C>G (p.Arg965Gly)
c.2764C>G (p.Arg922Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581266G=CA1358574552SCN5Ac.2893C= (p.Arg965=)
c.2764C= (p.Arg922=)
3g.38581266G>TCA352140347SCN5Ac.2893C>A (p.Arg965Ser)
c.2764C>A (p.Arg922Ser)
gnomAD v4
3g.38581267G>ACA433332586SCN5Ac.2892C>T (p.Ala964=)
c.2763C>T (p.Ala921=)
gnomAD v4
3g.38581267G>CCA433332587SCN5Ac.2892C>G (p.Ala964=)
c.2763C>G (p.Ala921=)
3g.38581267G>TCA433332588SCN5Ac.2892C>A (p.Ala964=)
c.2763C>A (p.Ala921=)
3g.38581268G>ACA352140352SCN5Ac.2891C>T (p.Ala964Val)
c.2762C>T (p.Ala921Val)
3g.38581268G>CCA060999SCN5Ac.2891C>G (p.Ala964Gly)
c.2762C>G (p.Ala921Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581268G=CA1358574553SCN5Ac.2891C= (p.Ala964=)
c.2762C= (p.Ala921=)
3g.38581268G>TCA352140355SCN5Ac.2891C>A (p.Ala964Asp)
c.2762C>A (p.Ala921Asp)
3g.38581269C>ACA352140358SCN5Ac.2890G>T (p.Ala964Ser)
c.2761G>T (p.Ala921Ser)
3g.38581269C=CA1358574556SCN5Ac.2890G= (p.Ala964=)
c.2761G= (p.Ala921=)
3g.38581269C>GCA352140359SCN5Ac.2890G>C (p.Ala964Pro)
c.2761G>C (p.Ala921Pro)
3g.38581269C>TCA352140361SCN5Ac.2890G>A (p.Ala964Thr)
c.2761G>A (p.Ala921Thr)
ClinVar dbSNP
3g.38581270C>ACA433332589SCN5Ac.2889G>T (p.Leu963=)
c.2760G>T (p.Leu920=)
3g.38581270C=CA1358574558SCN5Ac.2889G= (p.Leu963=)
c.2760G= (p.Leu920=)
3g.38581270C>GCA433332590SCN5Ac.2889G>C (p.Leu963=)
c.2760G>C (p.Leu920=)
3g.38581270C>TCA433332591SCN5Ac.2889G>A (p.Leu963=)
c.2760G>A (p.Leu920=)
ClinVar dbSNP gnomAD v4
3g.38581271A>CCA352140363SCN5Ac.2888T>G (p.Leu963Arg)
c.2759T>G (p.Leu920Arg)
3g.38581271A>GCA352140365SCN5Ac.2888T>C (p.Leu963Pro)
c.2759T>C (p.Leu920Pro)
3g.38581271A>TCA352140367SCN5Ac.2888T>A (p.Leu963Gln)
c.2759T>A (p.Leu920Gln)
3g.38581272G>ACA433332592SCN5Ac.2887C>T (p.Leu963=)
c.2758C>T (p.Leu920=)
3g.38581272G>CCA352140369SCN5Ac.2887C>G (p.Leu963Val)
c.2758C>G (p.Leu920Val)
gnomAD v4
3g.38581272G>TCA352140371SCN5Ac.2887C>A (p.Leu963Met)
c.2758C>A (p.Leu920Met)
3g.38581274delCA433332593SCN5Ac.2887del (p.Leu963TrpfsTer?)
c.2758del (p.Leu920TrpfsTer?)
ClinVar COSMIC COSMIC COSMIC
3g.38581273G>ACA060996SCN5Ac.2886C>T (p.Ala962=)
c.2757C>T (p.Ala919=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581273G>CCA433332595SCN5Ac.2886C>G (p.Ala962=)
c.2757C>G (p.Ala919=)
3g.38581273G=CA1358574560SCN5Ac.2886C= (p.Ala962=)
c.2757C= (p.Ala919=)
3g.38581273G>TCA433332594SCN5Ac.2886C>A (p.Ala962=)
c.2757C>A (p.Ala919=)
3g.38581274G>ACA352140374SCN5Ac.2885C>T (p.Ala962Val)
c.2756C>T (p.Ala919Val)
dbSNP
3g.38581274G>CCA352140376SCN5Ac.2885C>G (p.Ala962Gly)
c.2756C>G (p.Ala919Gly)
3g.38581274G>TCA352140378SCN5Ac.2885C>A (p.Ala962Asp)
c.2756C>A (p.Ala919Asp)
3g.38581275C>ACA352140380SCN5Ac.2884G>T (p.Ala962Ser)
c.2755G>T (p.Ala919Ser)
3g.38581275C=CA1358574562SCN5Ac.2884G= (p.Ala962=)
c.2755G= (p.Ala919=)
3g.38581275C>GCA352140382SCN5Ac.2884G>C (p.Ala962Pro)
c.2755G>C (p.Ala919Pro)
gnomAD v4
3g.38581275C>TCA060992SCN5Ac.2884G>A (p.Ala962Thr)
c.2755G>A (p.Ala919Thr)
dbSNP ExAC gnomAD v4
3g.38581276C>ACA433332596SCN5Ac.2883G>T (p.Leu961=)
c.2754G>T (p.Leu918=)
ClinVar
3g.38581276C>GCA433332597SCN5Ac.2883G>C (p.Leu961=)
c.2754G>C (p.Leu918=)
3g.38581276C>TCA433332598SCN5Ac.2883G>A (p.Leu961=)
c.2754G>A (p.Leu918=)
3g.38581277A>CCA352140384SCN5Ac.2882T>G (p.Leu961Arg)
c.2753T>G (p.Leu918Arg)
3g.38581277A>GCA352140388SCN5Ac.2882T>C (p.Leu961Pro)
c.2753T>C (p.Leu918Pro)
3g.38581277A>TCA352140386SCN5Ac.2882T>A (p.Leu961Gln)
c.2753T>A (p.Leu918Gln)
3g.38581278G>ACA433332600SCN5Ac.2881C>T (p.Leu961=)
c.2752C>T (p.Leu918=)
3g.38581278G>CCA352140391SCN5Ac.2881C>G (p.Leu961Val)
c.2752C>G (p.Leu918Val)
ClinVar dbSNP
3g.38581278G=CA1358574563SCN5Ac.2881C= (p.Leu961=)
c.2752C= (p.Leu918=)
3g.38581278G>TCA352140392SCN5Ac.2881C>A (p.Leu961Met)
c.2752C>A (p.Leu918Met)
3g.38581279C>ACA352140394SCN5Ac.2880G>T (p.Gln960His)
c.2751G>T (p.Gln917His)
3g.38581279C=CA1358574564SCN5Ac.2880G= (p.Gln960=)
c.2751G= (p.Gln917=)
3g.38581279C>GCA72926404SCN5Ac.2880G>C (p.Gln960His)
c.2751G>C (p.Gln917His)
dbSNP gnomAD v4
3g.38581279C>TCA433332605SCN5Ac.2880G>A (p.Gln960=)
c.2751G>A (p.Gln917=)
dbSNP gnomAD v2
3g.38581280T>ACA352140396SCN5Ac.2879A>T (p.Gln960Leu)
c.2750A>T (p.Gln917Leu)
3g.38581280T>CCA352140400SCN5Ac.2879A>G (p.Gln960Arg)
c.2750A>G (p.Gln917Arg)
3g.38581280T>GCA352140399SCN5Ac.2879A>C (p.Gln960Pro)
c.2750A>C (p.Gln917Pro)
3g.38581281G>ACA352140402SCN5Ac.2878C>T (p.Gln960Ter)
c.2749C>T (p.Gln917Ter)
3g.38581281G>CCA352140404SCN5Ac.2878C>G (p.Gln960Glu)
c.2749C>G (p.Gln917Glu)
gnomAD v4
3g.38581281G=CA1358574566SCN5Ac.2878C= (p.Gln960=)
c.2749C= (p.Gln917=)
3g.38581281G>TCA016586SCN5Ac.2878C>A (p.Gln960Lys)
c.2749C>A (p.Gln917Lys)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38581282G>ACA433332610SCN5Ac.2877C>T (p.Leu959=)
c.2748C>T (p.Leu916=)
gnomAD v4
3g.38581282G>CCA433332612SCN5Ac.2877C>G (p.Leu959=)
c.2748C>G (p.Leu916=)
gnomAD v4
3g.38581282G>TCA433332615SCN5Ac.2877C>A (p.Leu959=)
c.2748C>A (p.Leu916=)
3g.38581283A=CA1358574567SCN5Ac.2876T= (p.Leu959=)
c.2747T= (p.Leu916=)
3g.38581283A>CCA352140407SCN5Ac.2876T>G (p.Leu959Arg)
c.2747T>G (p.Leu916Arg)
3g.38581283A>GCA352140409SCN5Ac.2876T>C (p.Leu959Pro)
c.2747T>C (p.Leu916Pro)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38581283A>TCA352140410SCN5Ac.2876T>A (p.Leu959His)
c.2747T>A (p.Leu916His)
3g.38581284G>ACA352140413SCN5Ac.2875C>T (p.Leu959Phe)
c.2746C>T (p.Leu916Phe)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38581284G>CCA352140415SCN5Ac.2875C>G (p.Leu959Val)
c.2746C>G (p.Leu916Val)
gnomAD v4
3g.38581284G=CA1358574570SCN5Ac.2875C= (p.Leu959=)
c.2746C= (p.Leu916=)
3g.38581284G>TCA352140416SCN5Ac.2875C>A (p.Leu959Ile)
c.2746C>A (p.Leu916Ile)
3g.38581285G>ACA433332621SCN5Ac.2874C>T (p.Asn958=)
c.2745C>T (p.Asn915=)
3g.38581285G>CCA352140418SCN5Ac.2874C>G (p.Asn958Lys)
c.2745C>G (p.Asn915Lys)
3g.38581285G=CA1358574571SCN5Ac.2874C= (p.Asn958=)
c.2745C= (p.Asn915=)
3g.38581285G>TCA72926407SCN5Ac.2874C>A (p.Asn958Lys)
c.2745C>A (p.Asn915Lys)
ClinVar dbSNP
3g.38581288_38581290delCA2702484102SCN5Ac.2872_2874del (p.Asn958del)
c.2743_2745del (p.Asn915del)
dbSNP
3g.38581286T>ACA352140423SCN5Ac.2873A>T (p.Asn958Ile)
c.2744A>T (p.Asn915Ile)
3g.38581286T>CCA352140425SCN5Ac.2873A>G (p.Asn958Ser)
c.2744A>G (p.Asn915Ser)
ClinVar dbSNP
3g.38581286T>GCA352140421SCN5Ac.2873A>C (p.Asn958Thr)
c.2744A>C (p.Asn915Thr)
3g.38581286T=CA1358574573SCN5Ac.2873A= (p.Asn958=)
c.2744A= (p.Asn915=)
3g.38581287T>ACA352140429SCN5Ac.2872A>T (p.Asn958Tyr)
c.2743A>T (p.Asn915Tyr)
3g.38581287T>CCA352140428SCN5Ac.2872A>G (p.Asn958Asp)
c.2743A>G (p.Asn915Asp)
3g.38581287T>GCA352140431SCN5Ac.2872A>C (p.Asn958His)
c.2743A>C (p.Asn915His)
3g.38581288G>ACA433332634SCN5Ac.2871C>T (p.Asn957=)
c.2742C>T (p.Asn914=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38581288G>CCA352140433SCN5Ac.2871C>G (p.Asn957Lys)
c.2742C>G (p.Asn914Lys)
3g.38581288G=CA1358574575SCN5Ac.2871C= (p.Asn957=)
c.2742C= (p.Asn914=)
3g.38581288G>TCA352140435SCN5Ac.2871C>A (p.Asn957Lys)
c.2742C>A (p.Asn914Lys)
3g.38581289T>ACA352140437SCN5Ac.2870A>T (p.Asn957Ile)
c.2741A>T (p.Asn914Ile)
gnomAD v4
3g.38581289T>CCA352140438SCN5Ac.2870A>G (p.Asn957Ser)
c.2741A>G (p.Asn914Ser)
gnomAD v4
3g.38581289T>GCA352140441SCN5Ac.2870A>C (p.Asn957Thr)
c.2741A>C (p.Asn914Thr)
3g.38581290T>ACA352140443SCN5Ac.2869A>T (p.Asn957Tyr)
c.2740A>T (p.Asn914Tyr)
3g.38581290T>CCA352140445SCN5Ac.2869A>G (p.Asn957Asp)
c.2740A>G (p.Asn914Asp)
gnomAD v4
3g.38581290T>GCA352140448SCN5Ac.2869A>C (p.Asn957His)
c.2740A>C (p.Asn914His)
3g.38581291C>ACA352140450SCN5Ac.2868G>T (p.Met956Ile)
c.2739G>T (p.Met913Ile)
dbSNP gnomAD v2 gnomAD v4
3g.38581291C=CA1358574576SCN5Ac.2868G= (p.Met956=)
c.2739G= (p.Met913=)
3g.38581291C>GCA352140453SCN5Ac.2868G>C (p.Met956Ile)
c.2739G>C (p.Met913Ile)
3g.38581291C>TCA352140454SCN5Ac.2868G>A (p.Met956Ile)
c.2739G>A (p.Met913Ile)
3g.38581292A=CA1358574577SCN5Ac.2867T= (p.Met956=)
c.2738T= (p.Met913=)
3g.38581292A>CCA352140460SCN5Ac.2867T>G (p.Met956Arg)
c.2738T>G (p.Met913Arg)
dbSNP gnomAD v3 gnomAD v4
3g.38581292A>GCA352140459SCN5Ac.2867T>C (p.Met956Thr)
c.2738T>C (p.Met913Thr)
dbSNP gnomAD v2 gnomAD v4
3g.38581292A>TCA352140457SCN5Ac.2867T>A (p.Met956Lys)
c.2738T>A (p.Met913Lys)
ClinVar
3g.38581292_38581294delinsATCCA1358574579SCN5Ac.2865_2867delinsGAT (p.Glu955=)
c.2736_2738delinsGAT (p.Glu912=)
3g.38581293T>ACA352140462SCN5Ac.2866A>T (p.Met956Leu)
c.2737A>T (p.Met913Leu)
ClinVar
3g.38581293T>CCA352140465SCN5Ac.2866A>G (p.Met956Val)
c.2737A>G (p.Met913Val)
ClinVar
3g.38581293T>GCA352140467SCN5Ac.2866A>C (p.Met956Leu)
c.2737A>C (p.Met913Leu)
gnomAD v4
3g.38581298_38581299delCA060987SCN5Ac.2865_2866del (p.Glu955AspfsTer?)
c.2736_2737del (p.Glu912AspfsTer?)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581294C>ACA352140471SCN5Ac.2865G>T (p.Glu955Asp)
c.2736G>T (p.Glu912Asp)
dbSNP gnomAD v3 gnomAD v4
3g.38581294C=CA1358574583SCN5Ac.2865G= (p.Glu955=)
c.2736G= (p.Glu912=)
3g.38581294C>GCA352140472SCN5Ac.2865G>C (p.Glu955Asp)
c.2736G>C (p.Glu912Asp)
3g.38581294C>TCA433332656SCN5Ac.2865G>A (p.Glu955=)
c.2736G>A (p.Glu912=)
gnomAD v4
3g.38581295T>ACA352140474SCN5Ac.2864A>T (p.Glu955Val)
c.2735A>T (p.Glu912Val)
3g.38581295T>CCA352140476SCN5Ac.2864A>G (p.Glu955Gly)
c.2735A>G (p.Glu912Gly)
3g.38581295T>GCA352140478SCN5Ac.2864A>C (p.Glu955Ala)
c.2735A>C (p.Glu912Ala)
3g.38581296C>ACA352140480SCN5Ac.2863G>T (p.Glu955Ter)
c.2734G>T (p.Glu912Ter)
dbSNP
3g.38581296C=CA1358574584SCN5Ac.2863G= (p.Glu955=)
c.2734G= (p.Glu912=)
3g.38581296C>GCA352140482SCN5Ac.2863G>C (p.Glu955Gln)
c.2734G>C (p.Glu912Gln)
3g.38581296C>TCA352140484SCN5Ac.2863G>A (p.Glu955Lys)
c.2734G>A (p.Glu912Lys)
COSMIC COSMIC COSMIC
3g.38581297T>ACA352140487SCN5Ac.2862A>T (p.Arg954Ser)
c.2733A>T (p.Arg911Ser)
3g.38581297T>CCA433332663SCN5Ac.2862A>G (p.Arg954=)
c.2733A>G (p.Arg911=)
3g.38581297T>GCA352140485SCN5Ac.2862A>C (p.Arg954Ser)
c.2733A>C (p.Arg911Ser)
3g.38581298C>ACA352140490SCN5Ac.2861G>T (p.Arg954Ile)
c.2732G>T (p.Arg911Ile)
3g.38581298C>GCA352140491SCN5Ac.2861G>C (p.Arg954Thr)
c.2732G>C (p.Arg911Thr)
3g.38581298C>TCA352140493SCN5Ac.2861G>A (p.Arg954Lys)
c.2732G>A (p.Arg911Lys)
gnomAD v4
3g.38581298_38581299delinsCTCA1358574586SCN5Ac.2860_2861delinsAG (p.Arg954=)
c.2731_2732delinsAG (p.Arg911=)
3g.38581299delCA1139657966SCN5Ac.2860del (p.Arg954GlufsTer3)
c.2731del (p.Arg911GlufsTer3)
ClinVar dbSNP
3g.38581299T>ACA352140495SCN5Ac.2860A>T (p.Arg954Ter)
c.2731A>T (p.Arg911Ter)
dbSNP
3g.38581299T>CCA352140497SCN5Ac.2860A>G (p.Arg954Gly)
c.2731A>G (p.Arg911Gly)
dbSNP gnomAD v2 gnomAD v4
3g.38581299T>GCA433332669SCN5Ac.2860A>C (p.Arg954=)
c.2731A>C (p.Arg911=)
3g.38581299T=CA1358574587SCN5Ac.2860A= (p.Arg954=)
c.2731A= (p.Arg911=)
3g.38581300G>ACA433332672SCN5Ac.2859C>T (p.Asp953=)
c.2730C>T (p.Asp910=)
3g.38581300G>CCA016578SCN5Ac.2859C>G (p.Asp953Glu)
c.2730C>G (p.Asp910Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38581300G=CA1358574588SCN5Ac.2859C= (p.Asp953=)
c.2730C= (p.Asp910=)
3g.38581300G>TCA352140500SCN5Ac.2859C>A (p.Asp953Glu)
c.2730C>A (p.Asp910Glu)
3g.38581301T>ACA352140502SCN5Ac.2858A>T (p.Asp953Val)
c.2729A>T (p.Asp910Val)
3g.38581301T>CCA352140504SCN5Ac.2858A>G (p.Asp953Gly)
c.2729A>G (p.Asp910Gly)
ClinVar
3g.38581301T>GCA352140506SCN5Ac.2858A>C (p.Asp953Ala)
c.2729A>C (p.Asp910Ala)
3g.38581302C>ACA060979SCN5Ac.2857G>T (p.Asp953Tyr)
c.2728G>T (p.Asp910Tyr)
dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581302C=CA1358574590SCN5Ac.2857G= (p.Asp953=)
c.2728G= (p.Asp910=)
3g.38581302C>GCA352140509SCN5Ac.2857G>C (p.Asp953His)
c.2728G>C (p.Asp910His)
3g.38581302C>TCA352140511SCN5Ac.2857G>A (p.Asp953Asn)
c.2728G>A (p.Asp910Asn)
COSMIC COSMIC COSMIC
3g.38581303C>ACA352140515SCN5Ac.2856G>T (p.Glu952Asp)
c.2727G>T (p.Glu909Asp)
3g.38581303C>GCA352140513SCN5Ac.2856G>C (p.Glu952Asp)
c.2727G>C (p.Glu909Asp)
3g.38581303C>TCA433332677SCN5Ac.2856G>A (p.Glu952=)
c.2727G>A (p.Glu909=)
gnomAD v4
3g.38581304T>ACA352140517SCN5Ac.2855A>T (p.Glu952Val)
c.2726A>T (p.Glu909Val)
3g.38581304T>CCA352140522SCN5Ac.2855A>G (p.Glu952Gly)
c.2726A>G (p.Glu909Gly)
3g.38581304T>GCA352140524SCN5Ac.2855A>C (p.Glu952Ala)
c.2726A>C (p.Glu909Ala)
3g.38581305C>ACA352140526SCN5Ac.2854G>T (p.Glu952Ter)
c.2725G>T (p.Glu909Ter)
dbSNP
3g.38581305C=CA1358574592SCN5Ac.2854G= (p.Glu952=)
c.2725G= (p.Glu909=)
3g.38581305C>GCA352140528SCN5Ac.2854G>C (p.Glu952Gln)
c.2725G>C (p.Glu909Gln)
3g.38581305C>TCA060975SCN5Ac.2854G>A (p.Glu952Lys)
c.2725G>A (p.Glu909Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38581306A=CA1358574594SCN5Ac.2853T= (p.Asp951=)
c.2724T= (p.Asp908=)
3g.38581306A>CCA352140531SCN5Ac.2853T>G (p.Asp951Glu)
c.2724T>G (p.Asp908Glu)
gnomAD v4
3g.38581306A>GCA433332686SCN5Ac.2853T>C (p.Asp951=)
c.2724T>C (p.Asp908=)
ClinVar dbSNP
3g.38581306A>TCA352140533SCN5Ac.2853T>A (p.Asp951Glu)
c.2724T>A (p.Asp908Glu)
3g.38581307T>ACA352140536SCN5Ac.2852A>T (p.Asp951Val)
c.2723A>T (p.Asp908Val)
3g.38581307T>CCA352140537SCN5Ac.2852A>G (p.Asp951Gly)
c.2723A>G (p.Asp908Gly)
3g.38581307T>GCA352140540SCN5Ac.2852A>C (p.Asp951Ala)
c.2723A>C (p.Asp908Ala)
3g.38581308C>ACA352140542SCN5Ac.2851G>T (p.Asp951Tyr)
c.2722G>T (p.Asp908Tyr)
3g.38581308C>GCA352140544SCN5Ac.2851G>C (p.Asp951His)
c.2722G>C (p.Asp908His)
3g.38581308C>TCA352140546SCN5Ac.2851G>A (p.Asp951Asn)
c.2722G>A (p.Asp908Asn)
COSMIC COSMIC COSMIC
3g.38581309delCA2586972021SCN5Ac.2850del (p.Asp951MetfsTer6)
c.2721del (p.Asp908MetfsTer6)
3g.38581309A>CCA433332688SCN5Ac.2850T>G (p.Pro950=)
c.2721T>G (p.Pro907=)
3g.38581309A>GCA433332689SCN5Ac.2850T>C (p.Pro950=)
c.2721T>C (p.Pro907=)
3g.38581309A>TCA433332690SCN5Ac.2850T>A (p.Pro950=)
c.2721T>A (p.Pro907=)
dbSNP
3g.38581309_38581310delCA2573052156SCN5Ac.2849_2850del (p.Pro950ArgfsTer2)
c.2720_2721del (p.Pro907ArgfsTer2)
ClinVar dbSNP gnomAD v4
3g.38581310G>ACA352140551SCN5Ac.2849C>T (p.Pro950Leu)
c.2720C>T (p.Pro907Leu)
3g.38581310G>CCA352140553SCN5Ac.2849C>G (p.Pro950Arg)
c.2720C>G (p.Pro907Arg)
3g.38581310G>TCA352140548SCN5Ac.2849C>A (p.Pro950His)
c.2720C>A (p.Pro907His)

Number of alleles fetched