Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38609863_38609876delCA2586971918SCN5Ac.795_808del (p.Leu266AlafsTer?)
c.666_679del (p.Leu223AlafsTer?)
3g.38609870G>ACA433138354SCN5Ac.798C>T (p.Leu266=)
c.669C>T (p.Leu223=)
ClinVar dbSNP
3g.38609870G>CCA433138355SCN5Ac.798C>G (p.Leu266=)
c.669C>G (p.Leu223=)
3g.38609870G=CA1358587697SCN5Ac.798C= (p.Leu266=)
c.669C= (p.Leu223=)
3g.38609870G>TCA433138357SCN5Ac.798C>A (p.Leu266=)
c.669C>A (p.Leu223=)
ClinVar
3g.38609871A=CA1358587698SCN5Ac.797T= (p.Leu266=)
c.668T= (p.Leu223=)
3g.38609871A>CCA352150725SCN5Ac.797T>G (p.Leu266Arg)
c.668T>G (p.Leu223Arg)
3g.38609871A>GCA352150726SCN5Ac.797T>C (p.Leu266Pro)
c.668T>C (p.Leu223Pro)
gnomAD v4
3g.38609871A>TCA065692SCN5Ac.797T>A (p.Leu266His)
c.668T>A (p.Leu223His)
dbSNP ExAC gnomAD v2
3g.38609872G>ACA352150729SCN5Ac.796C>T (p.Leu266Phe)
c.667C>T (p.Leu223Phe)
dbSNP COSMIC COSMIC COSMIC
3g.38609872G>CCA352150730SCN5Ac.796C>G (p.Leu266Val)
c.667C>G (p.Leu223Val)
3g.38609872G=CA1358587699SCN5Ac.796C= (p.Leu266=)
c.667C= (p.Leu223=)
3g.38609872G>TCA352150731SCN5Ac.796C>A (p.Leu266Ile)
c.667C>A (p.Leu223Ile)
3g.38609873G>ACA019803SCN5Ac.795C>T (p.Ala265=)
c.666C>T (p.Ala222=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609873G>CCA433138359SCN5Ac.795C>G (p.Ala265=)
c.666C>G (p.Ala222=)
3g.38609873G=CA1358587700SCN5Ac.795C= (p.Ala265=)
c.666C= (p.Ala222=)
3g.38609873G>TCA433138360SCN5Ac.795C>A (p.Ala265=)
c.666C>A (p.Ala222=)
3g.38609874G>ACA065685SCN5Ac.794C>T (p.Ala265Val)
c.665C>T (p.Ala222Val)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38609874G>CCA352150734SCN5Ac.794C>G (p.Ala265Gly)
c.665C>G (p.Ala222Gly)
3g.38609874G=CA1358587701SCN5Ac.794C= (p.Ala265=)
c.665C= (p.Ala222=)
3g.38609874G>TCA352150736SCN5Ac.794C>A (p.Ala265Asp)
c.665C>A (p.Ala222Asp)
3g.38609875C>ACA352150737SCN5Ac.793G>T (p.Ala265Ser)
c.664G>T (p.Ala222Ser)
gnomAD v4
3g.38609875C>GCA352150739SCN5Ac.793G>C (p.Ala265Pro)
c.664G>C (p.Ala222Pro)
3g.38609875C>TCA352150741SCN5Ac.793G>A (p.Ala265Thr)
c.664G>A (p.Ala222Thr)
3g.38609876A=CA1358587702SCN5Ac.792T= (p.Phe264=)
c.663T= (p.Phe221=)
3g.38609876A>CCA352150745SCN5Ac.792T>G (p.Phe264Leu)
c.663T>G (p.Phe221Leu)
3g.38609876A>GCA433138361SCN5Ac.792T>C (p.Phe264=)
c.663T>C (p.Phe221=)
dbSNP gnomAD v2 gnomAD v4
3g.38609876A>TCA352150743SCN5Ac.792T>A (p.Phe264Leu)
c.663T>A (p.Phe221Leu)
3g.38609877A>CCA352150746SCN5Ac.791T>G (p.Phe264Cys)
c.662T>G (p.Phe221Cys)
3g.38609877A>GCA352150747SCN5Ac.791T>C (p.Phe264Ser)
c.662T>C (p.Phe221Ser)
ClinVar
3g.38609877A>TCA352150749SCN5Ac.791T>A (p.Phe264Tyr)
c.662T>A (p.Phe221Tyr)
3g.38609878A>CCA352150750SCN5Ac.790T>G (p.Phe264Val)
c.661T>G (p.Phe221Val)
3g.38609878A>GCA352150751SCN5Ac.790T>C (p.Phe264Leu)
c.661T>C (p.Phe221Leu)
3g.38609878A>TCA352150753SCN5Ac.790T>A (p.Phe264Ile)
c.661T>A (p.Phe221Ile)
3g.38609879G>ACA433138362SCN5Ac.789C>T (p.Val263=)
c.660C>T (p.Val220=)
3g.38609879G>CCA433138363SCN5Ac.789C>G (p.Val263=)
c.660C>G (p.Val220=)
3g.38609879G>TCA433138364SCN5Ac.789C>A (p.Val263=)
c.660C>A (p.Val220=)
3g.38609880A>CCA352150756SCN5Ac.788T>G (p.Val263Gly)
c.659T>G (p.Val220Gly)
3g.38609880A>GCA352150757SCN5Ac.788T>C (p.Val263Ala)
c.659T>C (p.Val220Ala)
gnomAD v4
3g.38609880A>TCA352150759SCN5Ac.788T>A (p.Val263Asp)
c.659T>A (p.Val220Asp)
gnomAD v4
3g.38609881C>ACA352150760SCN5Ac.787G>T (p.Val263Phe)
c.658G>T (p.Val220Phe)
3g.38609881C=CA1358587703SCN5Ac.787G= (p.Val263=)
c.658G= (p.Val220=)
3g.38609881C>GCA352150761SCN5Ac.787G>C (p.Val263Leu)
c.658G>C (p.Val220Leu)
dbSNP gnomAD v4
3g.38609881C>TCA019796SCN5Ac.787G>A (p.Val263Ile)
c.658G>A (p.Val220Ile)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38609882G>ACA065678SCN5Ac.786C>T (p.Ser262=)
c.657C>T (p.Ser219=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38609882G>CCA352150766SCN5Ac.786C>G (p.Ser262Arg)
c.657C>G (p.Ser219Arg)
3g.38609882G=CA1358587704SCN5Ac.786C= (p.Ser262=)
c.657C= (p.Ser219=)
3g.38609882G>TCA352150763SCN5Ac.786C>A (p.Ser262Arg)
c.657C>A (p.Ser219Arg)
gnomAD v4
3g.38609883C>ACA352150768SCN5Ac.785G>T (p.Ser262Ile)
c.656G>T (p.Ser219Ile)
3g.38609883C>GCA352150770SCN5Ac.785G>C (p.Ser262Thr)
c.656G>C (p.Ser219Thr)
3g.38609883C>TCA352150771SCN5Ac.785G>A (p.Ser262Asn)
c.656G>A (p.Ser219Asn)
3g.38609884T>ACA352150773SCN5Ac.784A>T (p.Ser262Cys)
c.655A>T (p.Ser219Cys)
3g.38609884T>CCA065668SCN5Ac.784A>G (p.Ser262Gly)
c.655A>G (p.Ser219Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38609884T>GCA073231SCN5Ac.784A>C (p.Ser262Arg)
c.655A>C (p.Ser219Arg)
ClinVar dbSNP
3g.38609884T=CA1358587705SCN5Ac.784A= (p.Ser262=)
c.655A= (p.Ser219=)
3g.38609885G>ACA433138365SCN5Ac.783C>T (p.Leu261=)
c.654C>T (p.Leu218=)
COSMIC COSMIC COSMIC
3g.38609885G>CCA433138366SCN5Ac.783C>G (p.Leu261=)
c.654C>G (p.Leu218=)
dbSNP gnomAD v2 gnomAD v4
3g.38609885G=CA1358587706SCN5Ac.783C= (p.Leu261=)
c.654C= (p.Leu218=)
3g.38609885G>TCA433138367SCN5Ac.783C>A (p.Leu261=)
c.654C>A (p.Leu218=)
3g.38609886A>CCA352150777SCN5Ac.782T>G (p.Leu261Arg)
c.653T>G (p.Leu218Arg)
3g.38609886A>GCA352150780SCN5Ac.782T>C (p.Leu261Pro)
c.653T>C (p.Leu218Pro)
3g.38609886A>TCA352150778SCN5Ac.782T>A (p.Leu261His)
c.653T>A (p.Leu218His)
3g.38609887G>ACA352150781SCN5Ac.781C>T (p.Leu261Phe)
c.652C>T (p.Leu218Phe)
3g.38609887G>CCA352150783SCN5Ac.781C>G (p.Leu261Val)
c.652C>G (p.Leu218Val)
3g.38609887G>TCA352150785SCN5Ac.781C>A (p.Leu261Ile)
c.652C>A (p.Leu218Ile)
3g.38609888G>ACA433138369SCN5Ac.780C>T (p.Cys260=)
c.651C>T (p.Cys217=)
3g.38609888G>CCA352150787SCN5Ac.780C>G (p.Cys260Trp)
c.651C>G (p.Cys217Trp)
3g.38609888G=CA1358587707SCN5Ac.780C= (p.Cys260=)
c.651C= (p.Cys217=)
3g.38609888G>TCA352150788SCN5Ac.780C>A (p.Cys260Ter)
c.651C>A (p.Cys217Ter)
dbSNP
3g.38609889C>ACA352150794SCN5Ac.779G>T (p.Cys260Phe)
c.650G>T (p.Cys217Phe)
3g.38609889C>GCA352150792SCN5Ac.779G>C (p.Cys260Ser)
c.650G>C (p.Cys217Ser)
dbSNP gnomAD v4
3g.38609889C>TCA352150791SCN5Ac.779G>A (p.Cys260Tyr)
c.650G>A (p.Cys217Tyr)
3g.38609890A>CCA352150797SCN5Ac.778T>G (p.Cys260Gly)
c.649T>G (p.Cys217Gly)
3g.38609890A>GCA352150796SCN5Ac.778T>C (p.Cys260Arg)
c.649T>C (p.Cys217Arg)
3g.38609890A>TCA352150799SCN5Ac.778T>A (p.Cys260Ser)
c.649T>A (p.Cys217Ser)
3g.38609891G>ACA433138370SCN5Ac.777C>T (p.Phe259=)
c.648C>T (p.Phe216=)
gnomAD v4
3g.38609891G>CCA352150800SCN5Ac.777C>G (p.Phe259Leu)
c.648C>G (p.Phe216Leu)
3g.38609891G>TCA352150801SCN5Ac.777C>A (p.Phe259Leu)
c.648C>A (p.Phe216Leu)
3g.38609892A>CCA352150803SCN5Ac.776T>G (p.Phe259Cys)
c.647T>G (p.Phe216Cys)
3g.38609892A>GCA352150805SCN5Ac.776T>C (p.Phe259Ser)
c.647T>C (p.Phe216Ser)
COSMIC COSMIC COSMIC
3g.38609892A>TCA352150807SCN5Ac.776T>A (p.Phe259Tyr)
c.647T>A (p.Phe216Tyr)
3g.38609893A>CCA352150808SCN5Ac.775T>G (p.Phe259Val)
c.646T>G (p.Phe216Val)
3g.38609893A>GCA352150810SCN5Ac.775T>C (p.Phe259Leu)
c.646T>C (p.Phe216Leu)
3g.38609893A>TCA352150812SCN5Ac.775T>A (p.Phe259Ile)
c.646T>A (p.Phe216Ile)
3g.38609894G>ACA433138376SCN5Ac.774C>T (p.Val258=)
c.645C>T (p.Val215=)
3g.38609894G>CCA433138374SCN5Ac.774C>G (p.Val258=)
c.645C>G (p.Val215=)
3g.38609894G>TCA433138375SCN5Ac.774C>A (p.Val258=)
c.645C>A (p.Val215=)
3g.38609895A=CA1358587708SCN5Ac.773T= (p.Val258=)
c.644T= (p.Val215=)
3g.38609895A>CCA352150814SCN5Ac.773T>G (p.Val258Gly)
c.644T>G (p.Val215Gly)
3g.38609895A>GCA352150816SCN5Ac.773T>C (p.Val258Ala)
c.644T>C (p.Val215Ala)
ClinVar dbSNP
3g.38609895A>TCA352150818SCN5Ac.773T>A (p.Val258Asp)
c.644T>A (p.Val215Asp)
3g.38609896C>ACA352150823SCN5Ac.772G>T (p.Val258Phe)
c.643G>T (p.Val215Phe)
3g.38609896C=CA1358587709SCN5Ac.772G= (p.Val258=)
c.643G= (p.Val215=)
3g.38609896C>GCA352150821SCN5Ac.772G>C (p.Val258Leu)
c.643G>C (p.Val215Leu)
3g.38609896C>TCA352150819SCN5Ac.772G>A (p.Val258Ile)
c.643G>A (p.Val215Ile)
dbSNP
3g.38609897T>ACA433138380SCN5Ac.771A>T (p.Thr257=)
c.642A>T (p.Thr214=)
3g.38609897T>CCA433138381SCN5Ac.771A>G (p.Thr257=)
c.642A>G (p.Thr214=)
gnomAD v4
3g.38609897T>GCA433138382SCN5Ac.771A>C (p.Thr257=)
c.642A>C (p.Thr214=)
gnomAD v4
3g.38609898G>ACA352150825SCN5Ac.770C>T (p.Thr257Ile)
c.641C>T (p.Thr214Ile)
dbSNP gnomAD v4
3g.38609898G>CCA352150826SCN5Ac.770C>G (p.Thr257Arg)
c.641C>G (p.Thr214Arg)
gnomAD v4
3g.38609898G=CA1358587710SCN5Ac.770C= (p.Thr257=)
c.641C= (p.Thr214=)
3g.38609898G>TCA352150827SCN5Ac.770C>A (p.Thr257Lys)
c.641C>A (p.Thr214Lys)
3g.38609899T>ACA352150829SCN5Ac.769A>T (p.Thr257Ser)
c.640A>T (p.Thr214Ser)
3g.38609899T>CCA352150831SCN5Ac.769A>G (p.Thr257Ala)
c.640A>G (p.Thr214Ala)
3g.38609899T>GCA352150832SCN5Ac.769A>C (p.Thr257Pro)
c.640A>C (p.Thr214Pro)
3g.38609900G>ACA433138386SCN5Ac.768C>T (p.Leu256=)
c.639C>T (p.Leu213=)
3g.38609900G>CCA433138385SCN5Ac.768C>G (p.Leu256=)
c.639C>G (p.Leu213=)
3g.38609900G>TCA433138387SCN5Ac.768C>A (p.Leu256=)
c.639C>A (p.Leu213=)
3g.38609901_38609902delCA2665116062SCN5Ac.767_768del (p.Leu256HisfsTer?)
c.638_639del (p.Leu213HisfsTer?)
gnomAD v4
3g.38609901A>CCA352150834SCN5Ac.767T>G (p.Leu256Arg)
c.638T>G (p.Leu213Arg)
3g.38609901A>GCA352150835SCN5Ac.767T>C (p.Leu256Pro)
c.638T>C (p.Leu213Pro)
3g.38609901A>TCA352150837SCN5Ac.767T>A (p.Leu256His)
c.638T>A (p.Leu213His)
3g.38609902G>ACA352150839SCN5Ac.766C>T (p.Leu256Phe)
c.637C>T (p.Leu213Phe)
3g.38609902G>CCA352150840SCN5Ac.766C>G (p.Leu256Val)
c.637C>G (p.Leu213Val)
gnomAD v4
3g.38609902G>TCA352150842SCN5Ac.766C>A (p.Leu256Ile)
c.637C>A (p.Leu213Ile)
3g.38609903G>ACA433138390SCN5Ac.765C>T (p.Val255=)
c.636C>T (p.Val212=)
gnomAD v4 COSMIC COSMIC COSMIC
3g.38609903G>CCA433138391SCN5Ac.765C>G (p.Val255=)
c.636C>G (p.Val212=)
gnomAD v4
3g.38609903G>TCA433138392SCN5Ac.765C>A (p.Val255=)
c.636C>A (p.Val212=)
3g.38609904A>CCA352150846SCN5Ac.764T>G (p.Val255Gly)
c.635T>G (p.Val212Gly)
3g.38609904A>GCA352150847SCN5Ac.764T>C (p.Val255Ala)
c.635T>C (p.Val212Ala)
3g.38609904A>TCA352150844SCN5Ac.764T>A (p.Val255Asp)
c.635T>A (p.Val212Asp)
3g.38609905C>ACA352150850SCN5Ac.763G>T (p.Val255Phe)
c.634G>T (p.Val212Phe)
ClinVar
3g.38609905C>GCA352150851SCN5Ac.763G>C (p.Val255Leu)
c.634G>C (p.Val212Leu)
3g.38609905C>TCA352150853SCN5Ac.763G>A (p.Val255Ile)
c.634G>A (p.Val212Ile)
3g.38609906C>ACA352150855SCN5Ac.762G>T (p.Met254Ile)
c.633G>T (p.Met211Ile)
COSMIC COSMIC COSMIC
3g.38609906C>GCA352150857SCN5Ac.762G>C (p.Met254Ile)
c.633G>C (p.Met211Ile)
3g.38609906C>TCA352150858SCN5Ac.762G>A (p.Met254Ile)
c.633G>A (p.Met211Ile)
3g.38609907A>CCA352150860SCN5Ac.761T>G (p.Met254Arg)
c.632T>G (p.Met211Arg)
3g.38609907A>GCA352150862SCN5Ac.761T>C (p.Met254Thr)
c.632T>C (p.Met211Thr)
gnomAD v4
3g.38609907A>TCA352150864SCN5Ac.761T>A (p.Met254Lys)
c.632T>A (p.Met211Lys)
3g.38609908T>ACA352150866SCN5Ac.760A>T (p.Met254Leu)
c.631A>T (p.Met211Leu)
ClinVar dbSNP
3g.38609908T>CCA352150867SCN5Ac.760A>G (p.Met254Val)
c.631A>G (p.Met211Val)
gnomAD v4
3g.38609908T>GCA352150869SCN5Ac.760A>C (p.Met254Leu)
c.631A>C (p.Met211Leu)
3g.38609909C>ACA433138394SCN5Ac.759G>T (p.Val253=)
c.630G>T (p.Val210=)
3g.38609909C=CA1358587711SCN5Ac.759G= (p.Val253=)
c.630G= (p.Val210=)
3g.38609909C>GCA433138395SCN5Ac.759G>C (p.Val253=)
c.630G>C (p.Val210=)
3g.38609909C>TCA72941753SCN5Ac.759G>A (p.Val253=)
c.630G>A (p.Val210=)
ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38609910A>CCA352150873SCN5Ac.758T>G (p.Val253Gly)
c.629T>G (p.Val210Gly)
3g.38609910A>GCA352150875SCN5Ac.758T>C (p.Val253Ala)
c.629T>C (p.Val210Ala)
3g.38609910A>TCA352150872SCN5Ac.758T>A (p.Val253Glu)
c.629T>A (p.Val210Glu)
3g.38609911C>ACA352150878SCN5Ac.757G>T (p.Val253Leu)
c.628G>T (p.Val210Leu)
3g.38609911C>GCA352150879SCN5Ac.757G>C (p.Val253Leu)
c.628G>C (p.Val210Leu)
3g.38609911C>TCA352150881SCN5Ac.757G>A (p.Val253Met)
c.628G>A (p.Val210Met)
ClinVar
3g.38609912A=CA1358587712SCN5Ac.756T= (p.Asp252=)
c.627T= (p.Asp209=)
3g.38609912A>CCA352150883SCN5Ac.756T>G (p.Asp252Glu)
c.627T>G (p.Asp209Glu)
3g.38609912A>GCA019791SCN5Ac.756T>C (p.Asp252=)
c.627T>C (p.Asp209=)
ClinVar dbSNP gnomAD v4
3g.38609912A>TCA352150884SCN5Ac.756T>A (p.Asp252Glu)
c.627T>A (p.Asp209Glu)
3g.38609913T>ACA352150889SCN5Ac.755A>T (p.Asp252Val)
c.626A>T (p.Asp209Val)
ClinVar dbSNP
3g.38609913T>CCA352150886SCN5Ac.755A>G (p.Asp252Gly)
c.626A>G (p.Asp209Gly)
3g.38609913T>GCA352150888SCN5Ac.755A>C (p.Asp252Ala)
c.626A>C (p.Asp209Ala)
3g.38609913T=CA1358587713SCN5Ac.755A= (p.Asp252=)
c.626A= (p.Asp209=)
3g.38609914C>ACA352150891SCN5Ac.754G>T (p.Asp252Tyr)
c.625G>T (p.Asp209Tyr)
3g.38609914C>GCA352150893SCN5Ac.754G>C (p.Asp252His)
c.625G>C (p.Asp209His)
3g.38609914C>TCA352150895SCN5Ac.754G>A (p.Asp252Asn)
c.625G>A (p.Asp209Asn)
COSMIC COSMIC COSMIC
3g.38609915A>CCA433138400SCN5Ac.753T>G (p.Ala251=)
c.624T>G (p.Ala208=)
3g.38609915A>GCA433138401SCN5Ac.753T>C (p.Ala251=)
c.624T>C (p.Ala208=)
3g.38609915A>TCA433138402SCN5Ac.753T>A (p.Ala251=)
c.624T>A (p.Ala208=)
3g.38609916G>ACA352150896SCN5Ac.752C>T (p.Ala251Val)
c.623C>T (p.Ala208Val)
3g.38609916G>CCA352150898SCN5Ac.752C>G (p.Ala251Gly)
c.623C>G (p.Ala208Gly)
3g.38609916G>TCA352150900SCN5Ac.752C>A (p.Ala251Asp)
c.623C>A (p.Ala208Asp)
COSMIC COSMIC COSMIC
3g.38609917C>ACA352150904SCN5Ac.751G>T (p.Ala251Ser)
c.622G>T (p.Ala208Ser)
3g.38609917C=CA1358587714SCN5Ac.751G= (p.Ala251=)
c.622G= (p.Ala208=)
3g.38609917C>GCA352150906SCN5Ac.751G>C (p.Ala251Pro)
c.622G>C (p.Ala208Pro)
3g.38609917C>TCA352150902SCN5Ac.751G>A (p.Ala251Thr)
c.622G>A (p.Ala208Thr)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38609918C>ACA433138406SCN5Ac.750G>T (p.Leu250=)
c.621G>T (p.Leu207=)
3g.38609918C>GCA433138408SCN5Ac.750G>C (p.Leu250=)
c.621G>C (p.Leu207=)
3g.38609918C>TCA433138409SCN5Ac.750G>A (p.Leu250=)
c.621G>A (p.Leu207=)
ClinVar
3g.38609919A>CCA352150908SCN5Ac.749T>G (p.Leu250Arg)
c.620T>G (p.Leu207Arg)
3g.38609919A>GCA352150912SCN5Ac.749T>C (p.Leu250Pro)
c.620T>C (p.Leu207Pro)
3g.38609919A>TCA352150910SCN5Ac.749T>A (p.Leu250Gln)
c.620T>A (p.Leu207Gln)
3g.38609920G>ACA433138411SCN5Ac.748C>T (p.Leu250=)
c.619C>T (p.Leu207=)
ClinVar dbSNP
3g.38609920G>CCA352150913SCN5Ac.748C>G (p.Leu250Val)
c.619C>G (p.Leu207Val)
ClinVar dbSNP
3g.38609920G=CA1358587715SCN5Ac.748C= (p.Leu250=)
c.619C= (p.Leu207=)
3g.38609920G>TCA352150915SCN5Ac.748C>A (p.Leu250Met)
c.619C>A (p.Leu207Met)
3g.38609921C>ACA352150917SCN5Ac.747G>T (p.Lys249Asn)
c.618G>T (p.Lys206Asn)
3g.38609921C>GCA352150918SCN5Ac.747G>C (p.Lys249Asn)
c.618G>C (p.Lys206Asn)
3g.38609921C>TCA433138413SCN5Ac.747G>A (p.Lys249=)
c.618G>A (p.Lys206=)
3g.38609922T>ACA352150920SCN5Ac.746A>T (p.Lys249Met)
c.617A>T (p.Lys206Met)
3g.38609922T>CCA352150922SCN5Ac.746A>G (p.Lys249Arg)
c.617A>G (p.Lys206Arg)
3g.38609922T>GCA352150924SCN5Ac.746A>C (p.Lys249Thr)
c.617A>C (p.Lys206Thr)
ClinVar
3g.38609923T>ACA352150926SCN5Ac.745A>T (p.Lys249Ter)
c.616A>T (p.Lys206Ter)
dbSNP
3g.38609923T>CCA352150928SCN5Ac.745A>G (p.Lys249Glu)
c.616A>G (p.Lys206Glu)
3g.38609923T>GCA352150930SCN5Ac.745A>C (p.Lys249Gln)
c.616A>C (p.Lys206Gln)
3g.38609923T=CA1358587716SCN5Ac.745A= (p.Lys249=)
c.616A= (p.Lys206=)
3g.38609924C>ACA352150931SCN5Ac.744G>T (p.Lys248Asn)
c.615G>T (p.Lys205Asn)
3g.38609924C=CA1358587717SCN5Ac.744G= (p.Lys248=)
c.615G= (p.Lys205=)
3g.38609924C>GCA352150932SCN5Ac.744G>C (p.Lys248Asn)
c.615G>C (p.Lys205Asn)
3g.38609924C>TCA065655SCN5Ac.744G>A (p.Lys248=)
c.615G>A (p.Lys205=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609925T>ACA352150936SCN5Ac.743A>T (p.Lys248Met)
c.614A>T (p.Lys205Met)
3g.38609925T>CCA352150934SCN5Ac.743A>G (p.Lys248Arg)
c.614A>G (p.Lys205Arg)
3g.38609925T>GCA352150933SCN5Ac.743A>C (p.Lys248Thr)
c.614A>C (p.Lys205Thr)
3g.38609926T>ACA352150938SCN5Ac.742A>T (p.Lys248Ter)
c.613A>T (p.Lys205Ter)
3g.38609926T>CCA352150940SCN5Ac.742A>G (p.Lys248Glu)
c.613A>G (p.Lys205Glu)
3g.38609926T>GCA352150942SCN5Ac.742A>C (p.Lys248Gln)
c.613A>C (p.Lys205Gln)
3g.38609927C>ACA433138417SCN5Ac.741G>T (p.Val247=)
c.612G>T (p.Val204=)
3g.38609927C=CA1358587718SCN5Ac.741G= (p.Val247=)
c.612G= (p.Val204=)
3g.38609927C>GCA433138419SCN5Ac.741G>C (p.Val247=)
c.612G>C (p.Val204=)
3g.38609927C>TCA433138418SCN5Ac.741G>A (p.Val247=)
c.612G>A (p.Val204=)
dbSNP gnomAD v4
3g.38609928A>CCA352150944SCN5Ac.740T>G (p.Val247Gly)
c.611T>G (p.Val204Gly)
3g.38609928A>GCA352150946SCN5Ac.740T>C (p.Val247Ala)
c.611T>C (p.Val204Ala)
3g.38609928A>TCA352150947SCN5Ac.740T>A (p.Val247Glu)
c.611T>A (p.Val204Glu)
3g.38609929C>ACA352150949SCN5Ac.739G>T (p.Val247Leu)
c.610G>T (p.Val204Leu)
3g.38609929C=CA1358587719SCN5Ac.739G= (p.Val247=)
c.610G= (p.Val204=)
3g.38609929C>GCA019780SCN5Ac.739G>C (p.Val247Leu)
c.610G>C (p.Val204Leu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609929C>TCA352150951SCN5Ac.739G>A (p.Val247Met)
c.610G>A (p.Val204Met)
3g.38609930A=CA1358587720SCN5Ac.738T= (p.Ser246=)
c.609T= (p.Ser203=)
3g.38609930A>CCA433138421SCN5Ac.738T>G (p.Ser246=)
c.609T>G (p.Ser203=)
3g.38609930A>GCA433138422SCN5Ac.738T>C (p.Ser246=)
c.609T>C (p.Ser203=)
3g.38609930A>TCA433138423SCN5Ac.738T>A (p.Ser246=)
c.609T>A (p.Ser203=)
ClinVar dbSNP
3g.38609931G>ACA352150953SCN5Ac.737C>T (p.Ser246Phe)
c.608C>T (p.Ser203Phe)
3g.38609931G>CCA352150955SCN5Ac.737C>G (p.Ser246Cys)
c.608C>G (p.Ser203Cys)
3g.38609931G>TCA352150957SCN5Ac.737C>A (p.Ser246Tyr)
c.608C>A (p.Ser203Tyr)
3g.38609932A>CCA352150962SCN5Ac.736T>G (p.Ser246Ala)
c.607T>G (p.Ser203Ala)
3g.38609932A>GCA352150961SCN5Ac.736T>C (p.Ser246Pro)
c.607T>C (p.Ser203Pro)
3g.38609932A>TCA352150959SCN5Ac.736T>A (p.Ser246Thr)
c.607T>A (p.Ser203Thr)
3g.38609933C>ACA352150964SCN5Ac.735G>T (p.Gln245His)
c.606G>T (p.Gln202His)
3g.38609933C>GCA352150966SCN5Ac.735G>C (p.Gln245His)
c.606G>C (p.Gln202His)
3g.38609933C>TCA433138424SCN5Ac.735G>A (p.Gln245=)
c.606G>A (p.Gln202=)
ClinVar gnomAD v4
3g.38609934T>ACA352150967SCN5Ac.734A>T (p.Gln245Leu)
c.605A>T (p.Gln202Leu)
3g.38609934T>CCA352150969SCN5Ac.734A>G (p.Gln245Arg)
c.605A>G (p.Gln202Arg)
3g.38609934T>GCA352150970SCN5Ac.734A>C (p.Gln245Pro)
c.605A>C (p.Gln202Pro)
3g.38609935G>ACA352150972SCN5Ac.733C>T (p.Gln245Ter)
c.604C>T (p.Gln202Ter)
COSMIC COSMIC COSMIC
3g.38609935G>CCA352150973SCN5Ac.733C>G (p.Gln245Glu)
c.604C>G (p.Gln202Glu)
3g.38609935G=CA1358587721SCN5Ac.733C= (p.Gln245=)
c.604C= (p.Gln202=)
3g.38609935G>TCA019775SCN5Ac.733C>A (p.Gln245Lys)
c.604C>A (p.Gln202Lys)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609936delCA2665116063SCN5Ac.733del (p.Gln245SerfsTer3)
c.604del (p.Gln202SerfsTer3)
gnomAD v4
3g.38609936G>ACA433138428SCN5Ac.732C>T (p.Ile244=)
c.603C>T (p.Ile201=)
ClinVar
3g.38609936G>CCA352150975SCN5Ac.732C>G (p.Ile244Met)
c.603C>G (p.Ile201Met)
dbSNP gnomAD v4
3g.38609936G=CA1358587722SCN5Ac.732C= (p.Ile244=)
c.603C= (p.Ile201=)
3g.38609936G>TCA433138429SCN5Ac.732C>A (p.Ile244=)
c.603C>A (p.Ile201=)
3g.38609937A>CCA352150977SCN5Ac.731T>G (p.Ile244Ser)
c.602T>G (p.Ile201Ser)
3g.38609937A>GCA352150979SCN5Ac.731T>C (p.Ile244Thr)
c.602T>C (p.Ile201Thr)
3g.38609937A>TCA352150981SCN5Ac.731T>A (p.Ile244Asn)
c.602T>A (p.Ile201Asn)
3g.38609938T>ACA352150987SCN5Ac.730A>T (p.Ile244Phe)
c.601A>T (p.Ile201Phe)
3g.38609938T>CCA352150985SCN5Ac.730A>G (p.Ile244Val)
c.601A>G (p.Ile201Val)
3g.38609938T>GCA352150983SCN5Ac.730A>C (p.Ile244Leu)
c.601A>C (p.Ile201Leu)
3g.38609939C>ACA433138436SCN5Ac.729G>T (p.Leu243=)
c.600G>T (p.Leu200=)
3g.38609939C>GCA433138437SCN5Ac.729G>C (p.Leu243=)
c.600G>C (p.Leu200=)
ClinVar dbSNP
3g.38609939C>TCA433138438SCN5Ac.729G>A (p.Leu243=)
c.600G>A (p.Leu200=)
ClinVar dbSNP
3g.38609940A>CCA352150989SCN5Ac.728T>G (p.Leu243Arg)
c.599T>G (p.Leu200Arg)
3g.38609940A>GCA352150991SCN5Ac.728T>C (p.Leu243Pro)
c.599T>C (p.Leu200Pro)
ClinVar
3g.38609940A>TCA352150993SCN5Ac.728T>A (p.Leu243Gln)
c.599T>A (p.Leu200Gln)
3g.38609941G>ACA433138443SCN5Ac.727C>T (p.Leu243=)
c.598C>T (p.Leu200=)
3g.38609941G>CCA352150995SCN5Ac.727C>G (p.Leu243Val)
c.598C>G (p.Leu200Val)
ClinVar dbSNP
3g.38609941G>TCA352150997SCN5Ac.727C>A (p.Leu243Met)
c.598C>A (p.Leu200Met)
3g.38609942G>ACA065637SCN5Ac.726C>T (p.Ala242=)
c.597C>T (p.Ala199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38609942G>CCA433138444SCN5Ac.726C>G (p.Ala242=)
c.597C>G (p.Ala199=)
3g.38609942G=CA1358587723SCN5Ac.726C= (p.Ala242=)
c.597C= (p.Ala199=)
3g.38609942G>TCA065633SCN5Ac.726C>A (p.Ala242=)
c.597C>A (p.Ala199=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38609943G>ACA351979SCN5Ac.725C>T (p.Ala242Val)
c.596C>T (p.Ala199Val)
ClinVar dbSNP
3g.38609943G>CCA352151001SCN5Ac.725C>G (p.Ala242Gly)
c.596C>G (p.Ala199Gly)
3g.38609943G=CA1358587724SCN5Ac.725C= (p.Ala242=)
c.596C= (p.Ala199=)
3g.38609943G>TCA352151002SCN5Ac.725C>A (p.Ala242Asp)
c.596C>A (p.Ala199Asp)
3g.38609944C>ACA352151004SCN5Ac.724G>T (p.Ala242Ser)
c.595G>T (p.Ala199Ser)
gnomAD v4
3g.38609944C=CA1358587725SCN5Ac.724G= (p.Ala242=)
c.595G= (p.Ala199=)
3g.38609944C>GCA352151005SCN5Ac.724G>C (p.Ala242Pro)
c.595G>C (p.Ala199Pro)
3g.38609944C>TCA352151007SCN5Ac.724G>A (p.Ala242Thr)
c.595G>A (p.Ala199Thr)
ClinVar dbSNP gnomAD v4
3g.38609948delCA2577553583SCN5Ac.724del (p.Ala242ProfsTer2)
c.595del (p.Ala199ProfsTer2)
3g.38609945C>ACA433138453SCN5Ac.723G>T (p.Gly241=)
c.594G>T (p.Gly198=)
3g.38609945C=CA1358587726SCN5Ac.723G= (p.Gly241=)
c.594G= (p.Gly198=)
3g.38609945C>GCA433138452SCN5Ac.723G>C (p.Gly241=)
c.594G>C (p.Gly198=)
3g.38609945C>TCA065627SCN5Ac.723G>A (p.Gly241=)
c.594G>A (p.Gly198=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609946C>ACA352151012SCN5Ac.722G>T (p.Gly241Val)
c.593G>T (p.Gly198Val)
3g.38609946C>GCA352151010SCN5Ac.722G>C (p.Gly241Ala)
c.593G>C (p.Gly198Ala)
3g.38609946C>TCA352151014SCN5Ac.722G>A (p.Gly241Glu)
c.593G>A (p.Gly198Glu)
gnomAD v4
3g.38609947C>ACA352151016SCN5Ac.721G>T (p.Gly241Trp)
c.592G>T (p.Gly198Trp)
3g.38609947C>GCA352151017SCN5Ac.721G>C (p.Gly241Arg)
c.592G>C (p.Gly198Arg)
3g.38609947C>TCA352151018SCN5Ac.721G>A (p.Gly241Arg)
c.592G>A (p.Gly198Arg)
gnomAD v4
3g.38609948C>ACA433138461SCN5Ac.720G>T (p.Val240=)
c.591G>T (p.Val197=)
3g.38609948C>GCA433138459SCN5Ac.720G>C (p.Val240=)
c.591G>C (p.Val197=)
dbSNP gnomAD v4
3g.38609948C>TCA433138460SCN5Ac.720G>A (p.Val240=)
c.591G>A (p.Val197=)
COSMIC COSMIC COSMIC
3g.38609949A>CCA352151019SCN5Ac.719T>G (p.Val240Gly)
c.590T>G (p.Val197Gly)
3g.38609949A>GCA352151021SCN5Ac.719T>C (p.Val240Ala)
c.590T>C (p.Val197Ala)
3g.38609949A>TCA352151023SCN5Ac.719T>A (p.Val240Glu)
c.590T>A (p.Val197Glu)
3g.38609950C>ACA352151027SCN5Ac.718G>T (p.Val240Leu)
c.589G>T (p.Val197Leu)
3g.38609950C=CA1358587727SCN5Ac.718G= (p.Val240=)
c.589G= (p.Val197=)
3g.38609950C>GCA352151024SCN5Ac.718G>C (p.Val240Leu)
c.589G>C (p.Val197Leu)
3g.38609950C>TCA019765SCN5Ac.718G>A (p.Val240Met)
c.589G>A (p.Val197Met)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38609951G>ACA019760SCN5Ac.717C>T (p.Ile239=)
c.588C>T (p.Ile196=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38609951G>CCA352151030SCN5Ac.717C>G (p.Ile239Met)
c.588C>G (p.Ile196Met)
3g.38609951G=CA1358587728SCN5Ac.717C= (p.Ile239=)
c.588C= (p.Ile196=)
3g.38609951G>TCA433138466SCN5Ac.717C>A (p.Ile239=)
c.588C>A (p.Ile196=)
3g.38609952A>CCA352151031SCN5Ac.716T>G (p.Ile239Ser)
c.587T>G (p.Ile196Ser)
3g.38609952A>GCA352151033SCN5Ac.716T>C (p.Ile239Thr)
c.587T>C (p.Ile196Thr)
ClinVar
3g.38609952A>TCA352151035SCN5Ac.716T>A (p.Ile239Asn)
c.587T>A (p.Ile196Asn)
3g.38609953T>ACA352151037SCN5Ac.715A>T (p.Ile239Phe)
c.586A>T (p.Ile196Phe)
3g.38609953T>CCA019755SCN5Ac.715A>G (p.Ile239Val)
c.586A>G (p.Ile196Val)
ClinVar dbSNP
3g.38609953T>GCA352151039SCN5Ac.715A>C (p.Ile239Leu)
c.586A>C (p.Ile196Leu)
3g.38609953T=CA1358587729SCN5Ac.715A= (p.Ile239=)
c.586A= (p.Ile196=)
3g.38609954G>ACA065617SCN5Ac.714C>T (p.Thr238=)
c.585C>T (p.Thr195=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38609954G>CCA433138472SCN5Ac.714C>G (p.Thr238=)
c.585C>G (p.Thr195=)
3g.38609954G=CA1358587730SCN5Ac.714C= (p.Thr238=)
c.585C= (p.Thr195=)
3g.38609954G>TCA065611SCN5Ac.714C>A (p.Thr238=)
c.585C>A (p.Thr195=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38609955G>ACA352151043SCN5Ac.713C>T (p.Thr238Ile)
c.584C>T (p.Thr195Ile)
gnomAD v4
3g.38609955G>CCA352151045SCN5Ac.713C>G (p.Thr238Ser)
c.584C>G (p.Thr195Ser)
3g.38609955G>TCA352151046SCN5Ac.713C>A (p.Thr238Asn)
c.584C>A (p.Thr195Asn)
gnomAD v4
3g.38609956T>ACA352151047SCN5Ac.712A>T (p.Thr238Ser)
c.583A>T (p.Thr195Ser)
3g.38609956T>CCA352151049SCN5Ac.712A>G (p.Thr238Ala)
c.583A>G (p.Thr195Ala)
ClinVar dbSNP
3g.38609956T>GCA352151051SCN5Ac.712A>C (p.Thr238Pro)
c.583A>C (p.Thr195Pro)
3g.38609957C>ACA352151052SCN5Ac.711G>T (p.Lys237Asn)
c.582G>T (p.Lys194Asn)
3g.38609957C>GCA352151053SCN5Ac.711G>C (p.Lys237Asn)
c.582G>C (p.Lys194Asn)
3g.38609957C>TCA433138474SCN5Ac.711G>A (p.Lys237=)
c.582G>A (p.Lys194=)
3g.38609958T>ACA352151059SCN5Ac.710A>T (p.Lys237Met)
c.581A>T (p.Lys194Met)
3g.38609958T>CCA352151058SCN5Ac.710A>G (p.Lys237Arg)
c.581A>G (p.Lys194Arg)
gnomAD v4
3g.38609958T>GCA352151056SCN5Ac.710A>C (p.Lys237Thr)
c.581A>C (p.Lys194Thr)
3g.38609959T>ACA352151061SCN5Ac.709A>T (p.Lys237Ter)
c.580A>T (p.Lys194Ter)
dbSNP
3g.38609959T>CCA352151063SCN5Ac.709A>G (p.Lys237Glu)
c.580A>G (p.Lys194Glu)
3g.38609959T>GCA352151065SCN5Ac.709A>C (p.Lys237Gln)
c.580A>C (p.Lys194Gln)
3g.38609959T=CA1358587731SCN5Ac.709A= (p.Lys237=)
c.580A= (p.Lys194=)
3g.38609960C>ACA433138476SCN5Ac.708G>T (p.Leu236=)
c.579G>T (p.Leu193=)
3g.38609960C>GCA433138477SCN5Ac.708G>C (p.Leu236=)
c.579G>C (p.Leu193=)
3g.38609960C>TCA433138478SCN5Ac.708G>A (p.Leu236=)
c.579G>A (p.Leu193=)
gnomAD v4
3g.38609961A>CCA352151067SCN5Ac.707T>G (p.Leu236Arg)
c.578T>G (p.Leu193Arg)
3g.38609961A>GCA352151068SCN5Ac.707T>C (p.Leu236Pro)
c.578T>C (p.Leu193Pro)
ClinVar dbSNP
3g.38609961A>TCA352151070SCN5Ac.707T>A (p.Leu236Gln)
c.578T>A (p.Leu193Gln)
3g.38609962G>ACA433138479SCN5Ac.706C>T (p.Leu236=)
c.577C>T (p.Leu193=)
gnomAD v4
3g.38609962G>CCA352151073SCN5Ac.706C>G (p.Leu236Val)
c.577C>G (p.Leu193Val)
3g.38609962G>TCA352151072SCN5Ac.706C>A (p.Leu236Met)
c.577C>A (p.Leu193Met)
3g.38609963C>ACA433138482SCN5Ac.705G>T (p.Gly235=)
c.576G>T (p.Gly192=)
gnomAD v4
3g.38609963C=CA1358587732SCN5Ac.705G= (p.Gly235=)
c.576G= (p.Gly192=)
3g.38609963C>GCA433138483SCN5Ac.705G>C (p.Gly235=)
c.576G>C (p.Gly192=)
3g.38609963C>TCA433138481SCN5Ac.705G>A (p.Gly235=)
c.576G>A (p.Gly192=)
ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38609964C>ACA352151074SCN5Ac.704G>T (p.Gly235Val)
c.575G>T (p.Gly192Val)
dbSNP
3g.38609964C>GCA352151076SCN5Ac.704G>C (p.Gly235Ala)
c.575G>C (p.Gly192Ala)
3g.38609964C>TCA352151078SCN5Ac.704G>A (p.Gly235Glu)
c.575G>A (p.Gly192Glu)
3g.38609965C>ACA352151079SCN5Ac.704-1G>T (n.704-1G>T)
c.575-1G>T (n.575-1G>T)
3g.38609965C>GCA352151080SCN5Ac.704-1G>C (n.704-1G>C)
c.575-1G>C (n.575-1G>C)
3g.38609965C>TCA352151082SCN5Ac.704-1G>A (n.704-1G>A)
c.575-1G>A (n.575-1G>A)
gnomAD v4
3g.38609966T>ACA352151083SCN5Ac.704-2A>T (n.704-2A>T)
c.575-2A>T (n.575-2A>T)
3g.38609966T>CCA352151086SCN5Ac.704-2A>G (n.704-2A>G)
c.575-2A>G (n.575-2A>G)
ClinVar dbSNP
3g.38609966T>GCA352151085SCN5Ac.704-2A>C (n.704-2A>C)
c.575-2A>C (n.575-2A>C)
3g.38609966T=CA1358587733SCN5Ac.704-2A= (n.704-2A=)
c.575-2A= (n.575-2A=)
3g.38609967G>ACA542615774SCN5Ac.704-3C>T (n.704-3C>T)
c.575-3C>T (n.575-3C>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38609967G>CCA1358587734SCN5Ac.704-3C>G (n.704-3C>G)
c.575-3C>G (n.575-3C>G)
dbSNP
3g.38609967G=CA1358587735SCN5Ac.704-3C= (n.704-3C=)
c.575-3C= (n.575-3C=)
3g.38609969G>ACA2665116064SCN5Ac.704-5C>T (n.704-5C>T)
c.575-5C>T (n.575-5C>T)
gnomAD v4
3g.38609970G>ACA2580069756SCN5Ac.704-6C>T (n.704-6C>T)
c.575-6C>T (n.575-6C>T)
ClinVar gnomAD v4

Number of alleles fetched