Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38557207_38557208insCCAAGCAGCCAGGAGCCTCAGGTGCCTGACTTGGTGGCA2665111236SCN5Ac.4296+52_4296+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4296+52_4296+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
c.4299+52_4299+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4299+52_4299+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
c.4246-601_4246-600insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4246-601_4246-600insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
c.4137+52_4137+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4137+52_4137+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
c.4170+52_4170+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4170+52_4170+53insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
c.4243-601_4243-600insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG (n.4243-601_4243-600insCTGCTTGGCCACCAAGTCAGGCACCTGAGGCTCCTGG)
 gnomAD v4
3g.38557184_38557193delinsAGCCTCAGGTCA1358564055SCN5Ac.4296+38_4296+47delinsACCTGAGGCT (n.4296+38_4296+47delinsACCTGAGGCT)
c.4299+38_4299+47delinsACCTGAGGCT (n.4299+38_4299+47delinsACCTGAGGCT)
c.4246-615_4246-606delinsACCTGAGGCT (n.4246-615_4246-606delinsACCTGAGGCT)
c.4137+38_4137+47delinsACCTGAGGCT (n.4137+38_4137+47delinsACCTGAGGCT)
c.4170+38_4170+47delinsACCTGAGGCT (n.4170+38_4170+47delinsACCTGAGGCT)
c.4243-615_4243-606delinsACCTGAGGCT (n.4243-615_4243-606delinsACCTGAGGCT)
3g.38557189_38557197delCA063039SCN5Ac.4296+38_4296+46del (n.4296+38_4296+46del)
c.4299+38_4299+46del (n.4299+38_4299+46del)
c.4246-615_4246-607del (n.4246-615_4246-607del)
c.4137+38_4137+46del (n.4137+38_4137+46del)
c.4170+38_4170+46del (n.4170+38_4170+46del)
c.4243-615_4243-607del (n.4243-615_4243-607del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557187C=CA1358564062SCN5Ac.4296+44G= (n.4296+44G=)
c.4299+44G= (n.4299+44G=)
c.4246-609G= (n.4246-609G=)
c.4137+44G= (n.4137+44G=)
c.4170+44G= (n.4170+44G=)
c.4243-609G= (n.4243-609G=)
3g.38557187C>GCA063044SCN5Ac.4296+44G>C (n.4296+44G>C)
c.4299+44G>C (n.4299+44G>C)
c.4246-609G>C (n.4246-609G>C)
c.4137+44G>C (n.4137+44G>C)
c.4170+44G>C (n.4170+44G>C)
c.4243-609G>C (n.4243-609G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557187C>TCA2665111240SCN5Ac.4296+44G>A (n.4296+44G>A)
c.4299+44G>A (n.4299+44G>A)
c.4246-609G>A (n.4246-609G>A)
c.4137+44G>A (n.4137+44G>A)
c.4170+44G>A (n.4170+44G>A)
c.4243-609G>A (n.4243-609G>A)
 gnomAD v4
3g.38557189C=CA1358564063SCN5Ac.4296+42G= (n.4296+42G=)
c.4299+42G= (n.4299+42G=)
c.4246-611G= (n.4246-611G=)
c.4137+42G= (n.4137+42G=)
c.4170+42G= (n.4170+42G=)
c.4243-611G= (n.4243-611G=)
3g.38557189C>GCA1358564064SCN5Ac.4296+42G>C (n.4296+42G>C)
c.4299+42G>C (n.4299+42G>C)
c.4246-611G>C (n.4246-611G>C)
c.4137+42G>C (n.4137+42G>C)
c.4170+42G>C (n.4170+42G>C)
c.4243-611G>C (n.4243-611G>C)
 dbSNP
3g.38557189C>TCA2665111241SCN5Ac.4296+42G>A (n.4296+42G>A)
c.4299+42G>A (n.4299+42G>A)
c.4246-611G>A (n.4246-611G>A)
c.4137+42G>A (n.4137+42G>A)
c.4170+42G>A (n.4170+42G>A)
c.4243-611G>A (n.4243-611G>A)
 gnomAD v4
3g.38557190A>GCA2665111242SCN5Ac.4296+41T>C (n.4296+41T>C)
c.4299+41T>C (n.4299+41T>C)
c.4246-612T>C (n.4246-612T>C)
c.4137+41T>C (n.4137+41T>C)
c.4170+41T>C (n.4170+41T>C)
c.4243-612T>C (n.4243-612T>C)
 gnomAD v4
3g.38557190A>TCA2665111243SCN5Ac.4296+41T>A (n.4296+41T>A)
c.4299+41T>A (n.4299+41T>A)
c.4246-612T>A (n.4246-612T>A)
c.4137+41T>A (n.4137+41T>A)
c.4170+41T>A (n.4170+41T>A)
c.4243-612T>A (n.4243-612T>A)
 gnomAD v4
3g.38557191G>CCA1358564065SCN5Ac.4296+40C>G (n.4296+40C>G)
c.4299+40C>G (n.4299+40C>G)
c.4246-613C>G (n.4246-613C>G)
c.4137+40C>G (n.4137+40C>G)
c.4170+40C>G (n.4170+40C>G)
c.4243-613C>G (n.4243-613C>G)
 dbSNP
3g.38557191G=CA1358564066SCN5Ac.4296+40C= (n.4296+40C=)
c.4299+40C= (n.4299+40C=)
c.4246-613C= (n.4246-613C=)
c.4137+40C= (n.4137+40C=)
c.4170+40C= (n.4170+40C=)
c.4243-613C= (n.4243-613C=)
3g.38557191G>TCA2577553067SCN5Ac.4296+40C>A (n.4296+40C>A)
c.4299+40C>A (n.4299+40C>A)
c.4246-613C>A (n.4246-613C>A)
c.4137+40C>A (n.4137+40C>A)
c.4170+40C>A (n.4170+40C>A)
c.4243-613C>A (n.4243-613C>A)
 gnomAD v4
3g.38557192G>ACA906898298SCN5Ac.4296+39C>T (n.4296+39C>T)
c.4299+39C>T (n.4299+39C>T)
c.4246-614C>T (n.4246-614C>T)
c.4137+39C>T (n.4137+39C>T)
c.4170+39C>T (n.4170+39C>T)
c.4243-614C>T (n.4243-614C>T)
 dbSNP gnomAD v4
3g.38557192G=CA1358564067SCN5Ac.4296+39C= (n.4296+39C=)
c.4299+39C= (n.4299+39C=)
c.4246-614C= (n.4246-614C=)
c.4137+39C= (n.4137+39C=)
c.4170+39C= (n.4170+39C=)
c.4243-614C= (n.4243-614C=)
3g.38557192G>TCA2665111244SCN5Ac.4296+39C>A (n.4296+39C>A)
c.4299+39C>A (n.4299+39C>A)
c.4246-614C>A (n.4246-614C>A)
c.4137+39C>A (n.4137+39C>A)
c.4170+39C>A (n.4170+39C>A)
c.4243-614C>A (n.4243-614C>A)
 gnomAD v4
3g.38557193T>ACA72943566SCN5Ac.4296+38A>T (n.4296+38A>T)
c.4299+38A>T (n.4299+38A>T)
c.4246-615A>T (n.4246-615A>T)
c.4137+38A>T (n.4137+38A>T)
c.4170+38A>T (n.4170+38A>T)
c.4243-615A>T (n.4243-615A>T)
 dbSNP
3g.38557193T>GCA433136194SCN5Ac.4296+38A>C (n.4296+38A>C)
c.4299+38A>C (n.4299+38A>C)
c.4246-615A>C (n.4246-615A>C)
c.4137+38A>C (n.4137+38A>C)
c.4170+38A>C (n.4170+38A>C)
c.4243-615A>C (n.4243-615A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38557193T=CA1358564068SCN5Ac.4296+38A= (n.4296+38A=)
c.4299+38A= (n.4299+38A=)
c.4246-615A= (n.4246-615A=)
c.4137+38A= (n.4137+38A=)
c.4170+38A= (n.4170+38A=)
c.4243-615A= (n.4243-615A=)
3g.38557194G>ACA72943568SCN5Ac.4296+37C>T (n.4296+37C>T)
c.4299+37C>T (n.4299+37C>T)
c.4246-616C>T (n.4246-616C>T)
c.4137+37C>T (n.4137+37C>T)
c.4170+37C>T (n.4170+37C>T)
c.4243-616C>T (n.4243-616C>T)
 dbSNP gnomAD v4
3g.38557194G=CA1358564069SCN5Ac.4296+37C= (n.4296+37C=)
c.4299+37C= (n.4299+37C=)
c.4246-616C= (n.4246-616C=)
c.4137+37C= (n.4137+37C=)
c.4170+37C= (n.4170+37C=)
c.4243-616C= (n.4243-616C=)
3g.38557194G>TCA2665111245SCN5Ac.4296+37C>A (n.4296+37C>A)
c.4299+37C>A (n.4299+37C>A)
c.4246-616C>A (n.4246-616C>A)
c.4137+37C>A (n.4137+37C>A)
c.4170+37C>A (n.4170+37C>A)
c.4243-616C>A (n.4243-616C>A)
 gnomAD v4
3g.38557195C>ACA2665111246SCN5Ac.4296+36G>T (n.4296+36G>T)
c.4299+36G>T (n.4299+36G>T)
c.4246-617G>T (n.4246-617G>T)
c.4137+36G>T (n.4137+36G>T)
c.4170+36G>T (n.4170+36G>T)
c.4243-617G>T (n.4243-617G>T)
 gnomAD v4
3g.38557195C>TCA2665111247SCN5Ac.4296+36G>A (n.4296+36G>A)
c.4299+36G>A (n.4299+36G>A)
c.4246-617G>A (n.4246-617G>A)
c.4137+36G>A (n.4137+36G>A)
c.4170+36G>A (n.4170+36G>A)
c.4243-617G>A (n.4243-617G>A)
 gnomAD v4
3g.38557196C=CA1358564071SCN5Ac.4296+35G= (n.4296+35G=)
c.4299+35G= (n.4299+35G=)
c.4246-618G= (n.4246-618G=)
c.4137+35G= (n.4137+35G=)
c.4170+35G= (n.4170+35G=)
c.4243-618G= (n.4243-618G=)
3g.38557196C>GCA542270124SCN5Ac.4296+35G>C (n.4296+35G>C)
c.4299+35G>C (n.4299+35G>C)
c.4246-618G>C (n.4246-618G>C)
c.4137+35G>C (n.4137+35G>C)
c.4170+35G>C (n.4170+35G>C)
c.4243-618G>C (n.4243-618G>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38557197T>CCA1358564076SCN5Ac.4296+34A>G (n.4296+34A>G)
c.4299+34A>G (n.4299+34A>G)
c.4246-619A>G (n.4246-619A>G)
c.4137+34A>G (n.4137+34A>G)
c.4170+34A>G (n.4170+34A>G)
c.4243-619A>G (n.4243-619A>G)
 dbSNP gnomAD v4
3g.38557197T=CA1358564074SCN5Ac.4296+34A= (n.4296+34A=)
c.4299+34A= (n.4299+34A=)
c.4246-619A= (n.4246-619A=)
c.4137+34A= (n.4137+34A=)
c.4170+34A= (n.4170+34A=)
c.4243-619A= (n.4243-619A=)
3g.38557198G>ACA2665111248SCN5Ac.4296+33C>T (n.4296+33C>T)
c.4299+33C>T (n.4299+33C>T)
c.4246-620C>T (n.4246-620C>T)
c.4137+33C>T (n.4137+33C>T)
c.4170+33C>T (n.4170+33C>T)
c.4243-620C>T (n.4243-620C>T)
 gnomAD v4
3g.38557198G>CCA2665111249SCN5Ac.4296+33C>G (n.4296+33C>G)
c.4299+33C>G (n.4299+33C>G)
c.4246-620C>G (n.4246-620C>G)
c.4137+33C>G (n.4137+33C>G)
c.4170+33C>G (n.4170+33C>G)
c.4243-620C>G (n.4243-620C>G)
 gnomAD v4
3g.38557198G>TCA2577553068SCN5Ac.4296+33C>A (n.4296+33C>A)
c.4299+33C>A (n.4299+33C>A)
c.4246-620C>A (n.4246-620C>A)
c.4137+33C>A (n.4137+33C>A)
c.4170+33C>A (n.4170+33C>A)
c.4243-620C>A (n.4243-620C>A)
 gnomAD v4
3g.38557199A=CA1358564078SCN5Ac.4296+32T= (n.4296+32T=)
c.4299+32T= (n.4299+32T=)
c.4246-621T= (n.4246-621T=)
c.4137+32T= (n.4137+32T=)
c.4170+32T= (n.4170+32T=)
c.4243-621T= (n.4243-621T=)
3g.38557199A>CCA063033SCN5Ac.4296+32T>G (n.4296+32T>G)
c.4299+32T>G (n.4299+32T>G)
c.4246-621T>G (n.4246-621T>G)
c.4137+32T>G (n.4137+32T>G)
c.4170+32T>G (n.4170+32T>G)
c.4243-621T>G (n.4243-621T>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557200C>ACA2665111250SCN5Ac.4296+31G>T (n.4296+31G>T)
c.4299+31G>T (n.4299+31G>T)
c.4246-622G>T (n.4246-622G>T)
c.4137+31G>T (n.4137+31G>T)
c.4170+31G>T (n.4170+31G>T)
c.4243-622G>T (n.4243-622G>T)
 gnomAD v4
3g.38557200C=CA1358564081SCN5Ac.4296+31G= (n.4296+31G=)
c.4299+31G= (n.4299+31G=)
c.4246-622G= (n.4246-622G=)
c.4137+31G= (n.4137+31G=)
c.4170+31G= (n.4170+31G=)
c.4243-622G= (n.4243-622G=)
3g.38557201T>ACA1358564085SCN5Ac.4296+30A>T (n.4296+30A>T)
c.4299+30A>T (n.4299+30A>T)
c.4246-623A>T (n.4246-623A>T)
c.4137+30A>T (n.4137+30A>T)
c.4170+30A>T (n.4170+30A>T)
c.4243-623A>T (n.4243-623A>T)
 dbSNP
3g.38557201T>CCA906898303SCN5Ac.4296+30A>G (n.4296+30A>G)
c.4299+30A>G (n.4299+30A>G)
c.4246-623A>G (n.4246-623A>G)
c.4137+30A>G (n.4137+30A>G)
c.4170+30A>G (n.4170+30A>G)
c.4243-623A>G (n.4243-623A>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38557201T=CA1358564084SCN5Ac.4296+30A= (n.4296+30A=)
c.4299+30A= (n.4299+30A=)
c.4246-623A= (n.4246-623A=)
c.4137+30A= (n.4137+30A=)
c.4170+30A= (n.4170+30A=)
c.4243-623A= (n.4243-623A=)
3g.38557202dupCA2319539SCN5Ac.4296+30dup (n.4296+30dup)
c.4299+30dup (n.4299+30dup)
c.4246-623dup (n.4246-623dup)
c.4137+30dup (n.4137+30dup)
c.4170+30dup (n.4170+30dup)
c.4243-623dup (n.4243-623dup)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38557203G>ACA063029SCN5Ac.4296+28C>T (n.4296+28C>T)
c.4299+28C>T (n.4299+28C>T)
c.4246-625C>T (n.4246-625C>T)
c.4137+28C>T (n.4137+28C>T)
c.4170+28C>T (n.4170+28C>T)
c.4243-625C>T (n.4243-625C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557203G=CA1358564086SCN5Ac.4296+28C= (n.4296+28C=)
c.4299+28C= (n.4299+28C=)
c.4246-625C= (n.4246-625C=)
c.4137+28C= (n.4137+28C=)
c.4170+28C= (n.4170+28C=)
c.4243-625C= (n.4243-625C=)
3g.38557203G>TCA2665111251SCN5Ac.4296+28C>A (n.4296+28C>A)
c.4299+28C>A (n.4299+28C>A)
c.4246-625C>A (n.4246-625C>A)
c.4137+28C>A (n.4137+28C>A)
c.4170+28C>A (n.4170+28C>A)
c.4243-625C>A (n.4243-625C>A)
 gnomAD v4
3g.38557204G>TCA2665111252SCN5Ac.4296+27C>A (n.4296+27C>A)
c.4299+27C>A (n.4299+27C>A)
c.4246-626C>A (n.4246-626C>A)
c.4137+27C>A (n.4137+27C>A)
c.4170+27C>A (n.4170+27C>A)
c.4243-626C>A (n.4243-626C>A)
 gnomAD v4
3g.38557206G>ACA2665111253SCN5Ac.4296+25C>T (n.4296+25C>T)
c.4299+25C>T (n.4299+25C>T)
c.4246-628C>T (n.4246-628C>T)
c.4137+25C>T (n.4137+25C>T)
c.4170+25C>T (n.4170+25C>T)
c.4243-628C>T (n.4243-628C>T)
 gnomAD v4
3g.38557207G>ACA906898307SCN5Ac.4296+24C>T (n.4296+24C>T)
c.4299+24C>T (n.4299+24C>T)
c.4246-629C>T (n.4246-629C>T)
c.4137+24C>T (n.4137+24C>T)
c.4170+24C>T (n.4170+24C>T)
c.4243-629C>T (n.4243-629C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38557207G=CA1358564087SCN5Ac.4296+24C= (n.4296+24C=)
c.4299+24C= (n.4299+24C=)
c.4246-629C= (n.4246-629C=)
c.4137+24C= (n.4137+24C=)
c.4170+24C= (n.4170+24C=)
c.4243-629C= (n.4243-629C=)
3g.38557207G>TCA906898305SCN5Ac.4296+24C>A (n.4296+24C>A)
c.4299+24C>A (n.4299+24C>A)
c.4246-629C>A (n.4246-629C>A)
c.4137+24C>A (n.4137+24C>A)
c.4170+24C>A (n.4170+24C>A)
c.4243-629C>A (n.4243-629C>A)
 dbSNP
3g.38557210G>ACA906898312SCN5Ac.4296+21C>T (n.4296+21C>T)
c.4299+21C>T (n.4299+21C>T)
c.4246-632C>T (n.4246-632C>T)
c.4137+21C>T (n.4137+21C>T)
c.4170+21C>T (n.4170+21C>T)
c.4243-632C>T (n.4243-632C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38557210G=CA1358564088SCN5Ac.4296+21C= (n.4296+21C=)
c.4299+21C= (n.4299+21C=)
c.4246-632C= (n.4246-632C=)
c.4137+21C= (n.4137+21C=)
c.4170+21C= (n.4170+21C=)
c.4243-632C= (n.4243-632C=)
3g.38557212A=CA1358564089SCN5Ac.4296+19T= (n.4296+19T=)
c.4299+19T= (n.4299+19T=)
c.4246-634T= (n.4246-634T=)
c.4137+19T= (n.4137+19T=)
c.4170+19T= (n.4170+19T=)
c.4243-634T= (n.4243-634T=)
3g.38557212A>GCA542270125SCN5Ac.4296+19T>C (n.4296+19T>C)
c.4299+19T>C (n.4299+19T>C)
c.4246-634T>C (n.4246-634T>C)
c.4137+19T>C (n.4137+19T>C)
c.4170+19T>C (n.4170+19T>C)
c.4243-634T>C (n.4243-634T>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38557214C>ACA2665111254SCN5Ac.4296+17G>T (n.4296+17G>T)
c.4299+17G>T (n.4299+17G>T)
c.4246-636G>T (n.4246-636G>T)
c.4137+17G>T (n.4137+17G>T)
c.4170+17G>T (n.4170+17G>T)
c.4243-636G>T (n.4243-636G>T)
 gnomAD v4
3g.38557215C=CA1358564091SCN5Ac.4296+16G= (n.4296+16G=)
c.4299+16G= (n.4299+16G=)
c.4246-637G= (n.4246-637G=)
c.4137+16G= (n.4137+16G=)
c.4170+16G= (n.4170+16G=)
c.4243-637G= (n.4243-637G=)
3g.38557215C>TCA1046993033SCN5Ac.4296+16G>A (n.4296+16G>A)
c.4299+16G>A (n.4299+16G>A)
c.4246-637G>A (n.4246-637G>A)
c.4137+16G>A (n.4137+16G>A)
c.4170+16G>A (n.4170+16G>A)
c.4243-637G>A (n.4243-637G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38557217C>TCA2577553069SCN5Ac.4296+14G>A (n.4296+14G>A)
c.4299+14G>A (n.4299+14G>A)
c.4246-639G>A (n.4246-639G>A)
c.4137+14G>A (n.4137+14G>A)
c.4170+14G>A (n.4170+14G>A)
c.4243-639G>A (n.4243-639G>A)
 gnomAD v4
3g.38557220T>ACA2665111255SCN5Ac.4296+11A>T (n.4296+11A>T)
c.4299+11A>T (n.4299+11A>T)
c.4246-642A>T (n.4246-642A>T)
c.4137+11A>T (n.4137+11A>T)
c.4170+11A>T (n.4170+11A>T)
c.4243-642A>T (n.4243-642A>T)
 gnomAD v4
3g.38557220T>CCA2665111256SCN5Ac.4296+11A>G (n.4296+11A>G)
c.4299+11A>G (n.4299+11A>G)
c.4246-642A>G (n.4246-642A>G)
c.4137+11A>G (n.4137+11A>G)
c.4170+11A>G (n.4170+11A>G)
c.4243-642A>G (n.4243-642A>G)
 ClinVar gnomAD v4
3g.38557221G>ACA658796279SCN5Ac.4296+10C>T (n.4296+10C>T)
c.4299+10C>T (n.4299+10C>T)
c.4246-643C>T (n.4246-643C>T)
c.4137+10C>T (n.4137+10C>T)
c.4170+10C>T (n.4170+10C>T)
c.4243-643C>T (n.4243-643C>T)
 ClinVar dbSNP gnomAD v4
3g.38557221G=CA1358564098SCN5Ac.4296+10C= (n.4296+10C=)
c.4299+10C= (n.4299+10C=)
c.4246-643C= (n.4246-643C=)
c.4137+10C= (n.4137+10C=)
c.4170+10C= (n.4170+10C=)
c.4243-643C= (n.4243-643C=)
3g.38557222G=CA1358564099SCN5Ac.4296+9C= (n.4296+9C=)
c.4299+9C= (n.4299+9C=)
c.4246-644C= (n.4246-644C=)
c.4137+9C= (n.4137+9C=)
c.4170+9C= (n.4170+9C=)
c.4243-644C= (n.4243-644C=)
3g.38557222G>TCA063062SCN5Ac.4296+9C>A (n.4296+9C>A)
c.4299+9C>A (n.4299+9C>A)
c.4246-644C>A (n.4246-644C>A)
c.4137+9C>A (n.4137+9C>A)
c.4170+9C>A (n.4170+9C>A)
c.4243-644C>A (n.4243-644C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557223delCA2499216733SCN5Ac.4296+8del (n.4296+8del)
c.4299+8del (n.4299+8del)
c.4246-645del (n.4246-645del)
c.4137+8del (n.4137+8del)
c.4170+8del (n.4170+8del)
c.4243-645del (n.4243-645del)
 ClinVar dbSNP
3g.38557223C=CA1358564100SCN5Ac.4296+8G= (n.4296+8G=)
c.4299+8G= (n.4299+8G=)
c.4246-645G= (n.4246-645G=)
c.4137+8G= (n.4137+8G=)
c.4170+8G= (n.4170+8G=)
c.4243-645G= (n.4243-645G=)
3g.38557223C>TCA063058SCN5Ac.4296+8G>A (n.4296+8G>A)
c.4299+8G>A (n.4299+8G>A)
c.4246-645G>A (n.4246-645G>A)
c.4137+8G>A (n.4137+8G>A)
c.4170+8G>A (n.4170+8G>A)
c.4243-645G>A (n.4243-645G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38557225A=CA1358564110SCN5Ac.4296+6T= (n.4296+6T=)
c.4299+6T= (n.4299+6T=)
c.4246-647T= (n.4246-647T=)
c.4137+6T= (n.4137+6T=)
c.4170+6T= (n.4170+6T=)
c.4243-647T= (n.4243-647T=)
3g.38557225A>GCA018104SCN5Ac.4296+6T>C (n.4296+6T>C)
c.4299+6T>C (n.4299+6T>C)
c.4246-647T>C (n.4246-647T>C)
c.4137+6T>C (n.4137+6T>C)
c.4170+6T>C (n.4170+6T>C)
c.4243-647T>C (n.4243-647T>C)
 ClinVar dbSNP gnomAD v4
3g.38557225A>TCA10576615SCN5Ac.4296+6T>A (n.4296+6T>A)
c.4299+6T>A (n.4299+6T>A)
c.4246-647T>A (n.4246-647T>A)
c.4137+6T>A (n.4137+6T>A)
c.4170+6T>A (n.4170+6T>A)
c.4243-647T>A (n.4243-647T>A)
 ClinVar dbSNP
3g.38557226C>TCA2580069840SCN5Ac.4296+5G>A (n.4296+5G>A)
c.4299+5G>A (n.4299+5G>A)
c.4246-648G>A (n.4246-648G>A)
c.4137+5G>A (n.4137+5G>A)
c.4170+5G>A (n.4170+5G>A)
c.4243-648G>A (n.4243-648G>A)
 ClinVar
3g.38557227C>ACA1139657973SCN5Ac.4296+4G>T (n.4296+4G>T)
c.4299+4G>T (n.4299+4G>T)
c.4246-649G>T (n.4246-649G>T)
c.4137+4G>T (n.4137+4G>T)
c.4170+4G>T (n.4170+4G>T)
c.4243-649G>T (n.4243-649G>T)
 ClinVar dbSNP
3g.38557227C=CA1358564114SCN5Ac.4296+4G= (n.4296+4G=)
c.4299+4G= (n.4299+4G=)
c.4246-649G= (n.4246-649G=)
c.4137+4G= (n.4137+4G=)
c.4170+4G= (n.4170+4G=)
c.4243-649G= (n.4243-649G=)
3g.38557227C>GCA2665111257SCN5Ac.4296+4G>C (n.4296+4G>C)
c.4299+4G>C (n.4299+4G>C)
c.4246-649G>C (n.4246-649G>C)
c.4137+4G>C (n.4137+4G>C)
c.4170+4G>C (n.4170+4G>C)
c.4243-649G>C (n.4243-649G>C)
 gnomAD v4
3g.38557227C>TCA2577553070SCN5Ac.4296+4G>A (n.4296+4G>A)
c.4299+4G>A (n.4299+4G>A)
c.4246-649G>A (n.4246-649G>A)
c.4137+4G>A (n.4137+4G>A)
c.4170+4G>A (n.4170+4G>A)
c.4243-649G>A (n.4243-649G>A)
3g.38557229A>CCA352145540SCN5Ac.4296+2T>G (n.4296+2T>G)
c.4299+2T>G (n.4299+2T>G)
c.4246-651T>G (n.4246-651T>G)
c.4137+2T>G (n.4137+2T>G)
c.4170+2T>G (n.4170+2T>G)
c.4243-651T>G (n.4243-651T>G)
3g.38557229A>GCA352145541SCN5Ac.4296+2T>C (n.4296+2T>C)
c.4299+2T>C (n.4299+2T>C)
c.4246-651T>C (n.4246-651T>C)
c.4137+2T>C (n.4137+2T>C)
c.4170+2T>C (n.4170+2T>C)
c.4243-651T>C (n.4243-651T>C)
3g.38557229A>TCA352145542SCN5Ac.4296+2T>A (n.4296+2T>A)
c.4299+2T>A (n.4299+2T>A)
c.4246-651T>A (n.4246-651T>A)
c.4137+2T>A (n.4137+2T>A)
c.4170+2T>A (n.4170+2T>A)
c.4243-651T>A (n.4243-651T>A)
3g.38557229_38557230delinsACCA1358564115SCN5Ac.4296+1_4296+2delinsGT (n.4296+1_4296+2delinsGT)
c.4299+1_4299+2delinsGT (n.4299+1_4299+2delinsGT)
c.4246-652_4246-651delinsGT (n.4246-652_4246-651delinsGT)
c.4137+1_4137+2delinsGT (n.4137+1_4137+2delinsGT)
c.4170+1_4170+2delinsGT (n.4170+1_4170+2delinsGT)
c.4243-652_4243-651delinsGT (n.4243-652_4243-651delinsGT)
3g.38557230C>ACA352145543SCN5Ac.4296+1G>T (n.4296+1G>T)
c.4299+1G>T (n.4299+1G>T)
c.4246-652G>T (n.4246-652G>T)
c.4137+1G>T (n.4137+1G>T)
c.4170+1G>T (n.4170+1G>T)
c.4243-652G>T (n.4243-652G>T)
 ClinVar dbSNP
3g.38557230C=CA1358564120SCN5Ac.4296+1G= (n.4296+1G=)
c.4299+1G= (n.4299+1G=)
c.4246-652G= (n.4246-652G=)
c.4137+1G= (n.4137+1G=)
c.4170+1G= (n.4170+1G=)
c.4243-652G= (n.4243-652G=)
3g.38557230C>GCA352145544SCN5Ac.4296+1G>C (n.4296+1G>C)
c.4299+1G>C (n.4299+1G>C)
c.4246-652G>C (n.4246-652G>C)
c.4137+1G>C (n.4137+1G>C)
c.4170+1G>C (n.4170+1G>C)
c.4243-652G>C (n.4243-652G>C)
3g.38557230C>TCA352145545SCN5Ac.4296+1G>A (n.4296+1G>A)
c.4299+1G>A (n.4299+1G>A)
c.4246-652G>A (n.4246-652G>A)
c.4137+1G>A (n.4137+1G>A)
c.4170+1G>A (n.4170+1G>A)
c.4243-652G>A (n.4243-652G>A)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38557235dupCA915942427SCN5Ac.4296+1dup
c.4299+1dup
c.4246-652dup (n.4246-652dup)
c.4137+1dup
c.4170+1dup
c.4243-652dup (n.4243-652dup)
 ClinVar dbSNP
3g.38557235delCA542270126SCN5Ac.4296+1del
c.4299+1del
c.4246-652del (n.4246-652del)
c.4137+1del
c.4170+1del
c.4243-652del (n.4243-652del)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38557231C>ACA433136197SCN5Ac.4296G>T (p.Gly1432=)
c.4299G>T (p.Gly1433=)
c.4246-653G>T (n.4246-653G>T)
c.4137G>T (p.Gly1379=)
c.4170G>T (p.Gly1390=)
c.4243-653G>T (n.4243-653G>T)
 ClinVar dbSNP gnomAD v4
3g.38557231C=CA1358564123SCN5Ac.4296G= (p.Gly1432=)
c.4299G= (p.Gly1433=)
c.4246-653G= (n.4246-653G=)
c.4137G= (p.Gly1379=)
c.4170G= (p.Gly1390=)
c.4243-653G= (n.4243-653G=)
3g.38557231C>GCA018111SCN5Ac.4296G>C (p.Gly1432=)
c.4299G>C (p.Gly1433=)
c.4246-653G>C (n.4246-653G>C)
c.4137G>C (p.Gly1379=)
c.4170G>C (p.Gly1390=)
c.4243-653G>C (n.4243-653G>C)
 ClinVar dbSNP
3g.38557231C>TCA433136198SCN5Ac.4296G>A (p.Gly1432=)
c.4299G>A (p.Gly1433=)
c.4246-653G>A (n.4246-653G>A)
c.4137G>A (p.Gly1379=)
c.4170G>A (p.Gly1390=)
c.4243-653G>A (n.4243-653G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38557232C>ACA018099SCN5Ac.4295G>T (p.Gly1432Val)
c.4298G>T (p.Gly1433Val)
c.4246-654G>T (n.4246-654G>T)
c.4136G>T (p.Gly1379Val)
c.4169G>T (p.Gly1390Val)
c.4243-654G>T (n.4243-654G>T)
 ClinVar dbSNP
3g.38557232C=CA1358564124SCN5Ac.4295G= (p.Gly1432=)
c.4298G= (p.Gly1433=)
c.4246-654G= (n.4246-654G=)
c.4136G= (p.Gly1379=)
c.4169G= (p.Gly1390=)
c.4243-654G= (n.4243-654G=)
3g.38557232C>GCA352145546SCN5Ac.4295G>C (p.Gly1432Ala)
c.4298G>C (p.Gly1433Ala)
c.4246-654G>C (n.4246-654G>C)
c.4136G>C (p.Gly1379Ala)
c.4169G>C (p.Gly1390Ala)
c.4243-654G>C (n.4243-654G>C)
 gnomAD v4
3g.38557232C>TCA72943604SCN5Ac.4295G>A (p.Gly1432Glu)
c.4298G>A (p.Gly1433Glu)
c.4246-654G>A (n.4246-654G>A)
c.4136G>A (p.Gly1379Glu)
c.4169G>A (p.Gly1390Glu)
c.4243-654G>A (n.4243-654G>A)
 dbSNP
3g.38557232_38557262delinsCCCCTGGAGTCCACAGCTGCATACATAATGTCA1358564125SCN5Ac.4265_4295delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1422=)
c.4268_4298delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1423=)
c.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG)
c.4106_4136delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1369=)
c.4139_4169delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1380=)
c.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG)
3g.38557233C>ACA352145547SCN5Ac.4294G>T (p.Gly1432Trp)
c.4297G>T (p.Gly1433Trp)
c.4246-655G>T (n.4246-655G>T)
c.4135G>T (p.Gly1379Trp)
c.4168G>T (p.Gly1390Trp)
c.4243-655G>T (n.4243-655G>T)
 ClinVar dbSNP gnomAD v4
3g.38557233C=CA1358564137SCN5Ac.4294G= (p.Gly1432=)
c.4297G= (p.Gly1433=)
c.4246-655G= (n.4246-655G=)
c.4135G= (p.Gly1379=)
c.4168G= (p.Gly1390=)
c.4243-655G= (n.4243-655G=)
3g.38557233C>GCA352145548SCN5Ac.4294G>C (p.Gly1432Arg)
c.4297G>C (p.Gly1433Arg)
c.4246-655G>C (n.4246-655G>C)
c.4135G>C (p.Gly1379Arg)
c.4168G>C (p.Gly1390Arg)
c.4243-655G>C (n.4243-655G>C)
 gnomAD v4
3g.38557233C>TCA72943607SCN5Ac.4294G>A (p.Gly1432Arg)
c.4297G>A (p.Gly1433Arg)
c.4246-655G>A (n.4246-655G>A)
c.4135G>A (p.Gly1379Arg)
c.4168G>A (p.Gly1390Arg)
c.4243-655G>A (n.4243-655G>A)
 ClinVar dbSNP
3g.38557235_38557264delCA1358564135SCN5Ac.4265_4294del (p.Asp1422_Arg1431del)
c.4268_4297del (p.Asp1423_Arg1432del)
c.4246-684_4246-655del (n.4246-684_4246-655del)
c.4106_4135del (p.Asp1369_Arg1378del)
c.4139_4168del (p.Asp1380_Arg1389del)
c.4243-684_4243-655del (n.4243-684_4243-655del)
 ClinVar dbSNP
3g.38557234C>ACA352145549SCN5Ac.4293G>T (p.Arg1431Ser)
c.4296G>T (p.Arg1432Ser)
c.4246-656G>T (n.4246-656G>T)
c.4134G>T (p.Arg1378Ser)
c.4167G>T (p.Arg1389Ser)
c.4243-656G>T (n.4243-656G>T)
 ClinVar dbSNP gnomAD v4
3g.38557234C=CA1358564142SCN5Ac.4293G= (p.Arg1431=)
c.4296G= (p.Arg1432=)
c.4246-656G= (n.4246-656G=)
c.4134G= (p.Arg1378=)
c.4167G= (p.Arg1389=)
c.4243-656G= (n.4243-656G=)
3g.38557234C>GCA018093SCN5Ac.4293G>C (p.Arg1431Ser)
c.4296G>C (p.Arg1432Ser)
c.4246-656G>C (n.4246-656G>C)
c.4134G>C (p.Arg1378Ser)
c.4167G>C (p.Arg1389Ser)
c.4243-656G>C (n.4243-656G>C)
 ClinVar dbSNP gnomAD v4
3g.38557234C>TCA063026SCN5Ac.4293G>A (p.Arg1431=)
c.4296G>A (p.Arg1432=)
c.4246-656G>A (n.4246-656G>A)
c.4134G>A (p.Arg1378=)
c.4167G>A (p.Arg1389=)
c.4243-656G>A (n.4243-656G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557235C>ACA352145550SCN5Ac.4292G>T (p.Arg1431Met)
c.4295G>T (p.Arg1432Met)
c.4246-657G>T (n.4246-657G>T)
c.4133G>T (p.Arg1378Met)
c.4166G>T (p.Arg1389Met)
c.4243-657G>T (n.4243-657G>T)
3g.38557235C>GCA352145551SCN5Ac.4292G>C (p.Arg1431Thr)
c.4295G>C (p.Arg1432Thr)
c.4246-657G>C (n.4246-657G>C)
c.4133G>C (p.Arg1378Thr)
c.4166G>C (p.Arg1389Thr)
c.4243-657G>C (n.4243-657G>C)
 gnomAD v4
3g.38557235C>TCA352145552SCN5Ac.4292G>A (p.Arg1431Lys)
c.4295G>A (p.Arg1432Lys)
c.4246-657G>A (n.4246-657G>A)
c.4133G>A (p.Arg1378Lys)
c.4166G>A (p.Arg1389Lys)
c.4243-657G>A (n.4243-657G>A)
3g.38557236delCA2586965750SCN5Ac.4291del (p.Arg1431GlyfsTer?)
c.4294del (p.Arg1432GlyfsTer?)
c.4246-658del (n.4246-658del)
c.4132del (p.Arg1378GlyfsTer?)
c.4165del (p.Arg1389GlyfsTer?)
c.4243-658del (n.4243-658del)
3g.38557236T>ACA352145553SCN5Ac.4291A>T (p.Arg1431Trp)
c.4294A>T (p.Arg1432Trp)
c.4246-658A>T (n.4246-658A>T)
c.4132A>T (p.Arg1378Trp)
c.4165A>T (p.Arg1389Trp)
c.4243-658A>T (n.4243-658A>T)
3g.38557236T>CCA018087SCN5Ac.4291A>G (p.Arg1431Gly)
c.4294A>G (p.Arg1432Gly)
c.4246-658A>G (n.4246-658A>G)
c.4132A>G (p.Arg1378Gly)
c.4165A>G (p.Arg1389Gly)
c.4243-658A>G (n.4243-658A>G)
 ClinVar dbSNP
3g.38557236T>GCA433136199SCN5Ac.4291A>C (p.Arg1431=)
c.4294A>C (p.Arg1432=)
c.4246-658A>C (n.4246-658A>C)
c.4132A>C (p.Arg1378=)
c.4165A>C (p.Arg1389=)
c.4243-658A>C (n.4243-658A>C)
 ClinVar gnomAD v4
3g.38557236T=CA1358564149SCN5Ac.4291A= (p.Arg1431=)
c.4294A= (p.Arg1432=)
c.4246-658A= (n.4246-658A=)
c.4132A= (p.Arg1378=)
c.4165A= (p.Arg1389=)
c.4243-658A= (n.4243-658A=)
3g.38557237G>ACA433136200SCN5Ac.4290C>T (p.Ser1430=)
c.4293C>T (p.Ser1431=)
c.4246-659C>T (n.4246-659C>T)
c.4131C>T (p.Ser1377=)
c.4164C>T (p.Ser1388=)
c.4243-659C>T (n.4243-659C>T)
3g.38557237G>CCA433136201SCN5Ac.4290C>G (p.Ser1430=)
c.4293C>G (p.Ser1431=)
c.4246-659C>G (n.4246-659C>G)
c.4131C>G (p.Ser1377=)
c.4164C>G (p.Ser1388=)
c.4243-659C>G (n.4243-659C>G)
3g.38557237G>TCA433136202SCN5Ac.4290C>A (p.Ser1430=)
c.4293C>A (p.Ser1431=)
c.4246-659C>A (n.4246-659C>A)
c.4131C>A (p.Ser1377=)
c.4164C>A (p.Ser1388=)
c.4243-659C>A (n.4243-659C>A)
 ClinVar
3g.38557238G>ACA352145554SCN5Ac.4289C>T (p.Ser1430Phe)
c.4292C>T (p.Ser1431Phe)
c.4246-660C>T (n.4246-660C>T)
c.4130C>T (p.Ser1377Phe)
c.4163C>T (p.Ser1388Phe)
c.4243-660C>T (n.4243-660C>T)
 COSMIC COSMIC COSMIC
3g.38557238G>CCA352145555SCN5Ac.4289C>G (p.Ser1430Cys)
c.4292C>G (p.Ser1431Cys)
c.4246-660C>G (n.4246-660C>G)
c.4130C>G (p.Ser1377Cys)
c.4163C>G (p.Ser1388Cys)
c.4243-660C>G (n.4243-660C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38557238G=CA1358564155SCN5Ac.4289C= (p.Ser1430=)
c.4292C= (p.Ser1431=)
c.4246-660C= (n.4246-660C=)
c.4130C= (p.Ser1377=)
c.4163C= (p.Ser1388=)
c.4243-660C= (n.4243-660C=)
3g.38557238G>TCA352145556SCN5Ac.4289C>A (p.Ser1430Tyr)
c.4292C>A (p.Ser1431Tyr)
c.4246-660C>A (n.4246-660C>A)
c.4130C>A (p.Ser1377Tyr)
c.4163C>A (p.Ser1388Tyr)
c.4243-660C>A (n.4243-660C>A)
3g.38557239A>CCA352145557SCN5Ac.4288T>G (p.Ser1430Ala)
c.4291T>G (p.Ser1431Ala)
c.4246-661T>G (n.4246-661T>G)
c.4129T>G (p.Ser1377Ala)
c.4162T>G (p.Ser1388Ala)
c.4243-661T>G (n.4243-661T>G)
3g.38557239A>GCA352145558SCN5Ac.4288T>C (p.Ser1430Pro)
c.4291T>C (p.Ser1431Pro)
c.4246-661T>C (n.4246-661T>C)
c.4129T>C (p.Ser1377Pro)
c.4162T>C (p.Ser1388Pro)
c.4243-661T>C (n.4243-661T>C)
3g.38557239A>TCA352145559SCN5Ac.4288T>A (p.Ser1430Thr)
c.4291T>A (p.Ser1431Thr)
c.4246-661T>A (n.4246-661T>A)
c.4129T>A (p.Ser1377Thr)
c.4162T>A (p.Ser1388Thr)
c.4243-661T>A (n.4243-661T>A)
3g.38557240G>ACA433136203SCN5Ac.4287C>T (p.Asp1429=)
c.4290C>T (p.Asp1430=)
c.4246-662C>T (n.4246-662C>T)
c.4128C>T (p.Asp1376=)
c.4161C>T (p.Asp1387=)
c.4243-662C>T (n.4243-662C>T)
3g.38557240G>CCA352145560SCN5Ac.4287C>G (p.Asp1429Glu)
c.4290C>G (p.Asp1430Glu)
c.4246-662C>G (n.4246-662C>G)
c.4128C>G (p.Asp1376Glu)
c.4161C>G (p.Asp1387Glu)
c.4243-662C>G (n.4243-662C>G)
3g.38557240G>TCA352145561SCN5Ac.4287C>A (p.Asp1429Glu)
c.4290C>A (p.Asp1430Glu)
c.4246-662C>A (n.4246-662C>A)
c.4128C>A (p.Asp1376Glu)
c.4161C>A (p.Asp1387Glu)
c.4243-662C>A (n.4243-662C>A)
 COSMIC COSMIC COSMIC
3g.38557241T>ACA352145562SCN5Ac.4286A>T (p.Asp1429Val)
c.4289A>T (p.Asp1430Val)
c.4246-663A>T (n.4246-663A>T)
c.4127A>T (p.Asp1376Val)
c.4160A>T (p.Asp1387Val)
c.4243-663A>T (n.4243-663A>T)
3g.38557241T>CCA352145563SCN5Ac.4286A>G (p.Asp1429Gly)
c.4289A>G (p.Asp1430Gly)
c.4246-663A>G (n.4246-663A>G)
c.4127A>G (p.Asp1376Gly)
c.4160A>G (p.Asp1387Gly)
c.4243-663A>G (n.4243-663A>G)
3g.38557241T>GCA352145564SCN5Ac.4286A>C (p.Asp1429Ala)
c.4289A>C (p.Asp1430Ala)
c.4246-663A>C (n.4246-663A>C)
c.4127A>C (p.Asp1376Ala)
c.4160A>C (p.Asp1387Ala)
c.4243-663A>C (n.4243-663A>C)
3g.38557242C>ACA352145565SCN5Ac.4285G>T (p.Asp1429Tyr)
c.4288G>T (p.Asp1430Tyr)
c.4246-664G>T (n.4246-664G>T)
c.4126G>T (p.Asp1376Tyr)
c.4159G>T (p.Asp1387Tyr)
c.4243-664G>T (n.4243-664G>T)
3g.38557242C>GCA352145566SCN5Ac.4285G>C (p.Asp1429His)
c.4288G>C (p.Asp1430His)
c.4246-664G>C (n.4246-664G>C)
c.4126G>C (p.Asp1376His)
c.4159G>C (p.Asp1387His)
c.4243-664G>C (n.4243-664G>C)
3g.38557242C>TCA352145567SCN5Ac.4285G>A (p.Asp1429Asn)
c.4288G>A (p.Asp1430Asn)
c.4246-664G>A (n.4246-664G>A)
c.4126G>A (p.Asp1376Asn)
c.4159G>A (p.Asp1387Asn)
c.4243-664G>A (n.4243-664G>A)
 ClinVar
3g.38557243C>ACA433136204SCN5Ac.4284G>T (p.Val1428=)
c.4287G>T (p.Val1429=)
c.4246-665G>T (n.4246-665G>T)
c.4125G>T (p.Val1375=)
c.4158G>T (p.Val1386=)
c.4243-665G>T (n.4243-665G>T)
3g.38557243C>GCA433136205SCN5Ac.4284G>C (p.Val1428=)
c.4287G>C (p.Val1429=)
c.4246-665G>C (n.4246-665G>C)
c.4125G>C (p.Val1375=)
c.4158G>C (p.Val1386=)
c.4243-665G>C (n.4243-665G>C)
3g.38557243C>TCA433136206SCN5Ac.4284G>A (p.Val1428=)
c.4287G>A (p.Val1429=)
c.4246-665G>A (n.4246-665G>A)
c.4125G>A (p.Val1375=)
c.4158G>A (p.Val1386=)
c.4243-665G>A (n.4243-665G>A)
 ClinVar
3g.38557244A>CCA352145568SCN5Ac.4283T>G (p.Val1428Gly)
c.4286T>G (p.Val1429Gly)
c.4246-666T>G (n.4246-666T>G)
c.4124T>G (p.Val1375Gly)
c.4157T>G (p.Val1386Gly)
c.4243-666T>G (n.4243-666T>G)
3g.38557244A>GCA352145569SCN5Ac.4283T>C (p.Val1428Ala)
c.4286T>C (p.Val1429Ala)
c.4246-666T>C (n.4246-666T>C)
c.4124T>C (p.Val1375Ala)
c.4157T>C (p.Val1386Ala)
c.4243-666T>C (n.4243-666T>C)
3g.38557244A>TCA352145570SCN5Ac.4283T>A (p.Val1428Glu)
c.4286T>A (p.Val1429Glu)
c.4246-666T>A (n.4246-666T>A)
c.4124T>A (p.Val1375Glu)
c.4157T>A (p.Val1386Glu)
c.4243-666T>A (n.4243-666T>A)
3g.38557245C>ACA352145571SCN5Ac.4282G>T (p.Val1428Leu)
c.4285G>T (p.Val1429Leu)
c.4246-667G>T (n.4246-667G>T)
c.4123G>T (p.Val1375Leu)
c.4156G>T (p.Val1386Leu)
c.4243-667G>T (n.4243-667G>T)
3g.38557245C>GCA352145572SCN5Ac.4282G>C (p.Val1428Leu)
c.4285G>C (p.Val1429Leu)
c.4246-667G>C (n.4246-667G>C)
c.4123G>C (p.Val1375Leu)
c.4156G>C (p.Val1386Leu)
c.4243-667G>C (n.4243-667G>C)
3g.38557245C>TCA352145573SCN5Ac.4282G>A (p.Val1428Met)
c.4285G>A (p.Val1429Met)
c.4246-667G>A (n.4246-667G>A)
c.4123G>A (p.Val1375Met)
c.4156G>A (p.Val1386Met)
c.4243-667G>A (n.4243-667G>A)
3g.38557246A>CCA433136208SCN5Ac.4281T>G (p.Ala1427=)
c.4284T>G (p.Ala1428=)
c.4246-668T>G (n.4246-668T>G)
c.4122T>G (p.Ala1374=)
c.4155T>G (p.Ala1385=)
c.4243-668T>G (n.4243-668T>G)
3g.38557246A>GCA433136209SCN5Ac.4281T>C (p.Ala1427=)
c.4284T>C (p.Ala1428=)
c.4246-668T>C (n.4246-668T>C)
c.4122T>C (p.Ala1374=)
c.4155T>C (p.Ala1385=)
c.4243-668T>C (n.4243-668T>C)
 gnomAD v4
3g.38557246A>TCA433136207SCN5Ac.4281T>A (p.Ala1427=)
c.4284T>A (p.Ala1428=)
c.4246-668T>A (n.4246-668T>A)
c.4122T>A (p.Ala1374=)
c.4155T>A (p.Ala1385=)
c.4243-668T>A (n.4243-668T>A)
3g.38557247G>ACA018079SCN5Ac.4280C>T (p.Ala1427Val)
c.4283C>T (p.Ala1428Val)
c.4246-669C>T (n.4246-669C>T)
c.4121C>T (p.Ala1374Val)
c.4154C>T (p.Ala1385Val)
c.4243-669C>T (n.4243-669C>T)
 ClinVar dbSNP
3g.38557247G>CCA352145574SCN5Ac.4280C>G (p.Ala1427Gly)
c.4283C>G (p.Ala1428Gly)
c.4246-669C>G (n.4246-669C>G)
c.4121C>G (p.Ala1374Gly)
c.4154C>G (p.Ala1385Gly)
c.4243-669C>G (n.4243-669C>G)
3g.38557247G=CA1358564157SCN5Ac.4280C= (p.Ala1427=)
c.4283C= (p.Ala1428=)
c.4246-669C= (n.4246-669C=)
c.4121C= (p.Ala1374=)
c.4154C= (p.Ala1385=)
c.4243-669C= (n.4243-669C=)
3g.38557247G>TCA352145575SCN5Ac.4280C>A (p.Ala1427Asp)
c.4283C>A (p.Ala1428Asp)
c.4246-669C>A (n.4246-669C>A)
c.4121C>A (p.Ala1374Asp)
c.4154C>A (p.Ala1385Asp)
c.4243-669C>A (n.4243-669C>A)
3g.38557248C>ACA018074SCN5Ac.4279G>T (p.Ala1427Ser)
c.4282G>T (p.Ala1428Ser)
c.4246-670G>T (n.4246-670G>T)
c.4120G>T (p.Ala1374Ser)
c.4153G>T (p.Ala1385Ser)
c.4243-670G>T (n.4243-670G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557248C=CA1358564159SCN5Ac.4279G= (p.Ala1427=)
c.4282G= (p.Ala1428=)
c.4246-670G= (n.4246-670G=)
c.4120G= (p.Ala1374=)
c.4153G= (p.Ala1385=)
c.4243-670G= (n.4243-670G=)
3g.38557248C>GCA352145576SCN5Ac.4279G>C (p.Ala1427Pro)
c.4282G>C (p.Ala1428Pro)
c.4246-670G>C (n.4246-670G>C)
c.4120G>C (p.Ala1374Pro)
c.4153G>C (p.Ala1385Pro)
c.4243-670G>C (n.4243-670G>C)
3g.38557248C>TCA352145577SCN5Ac.4279G>A (p.Ala1427Thr)
c.4282G>A (p.Ala1428Thr)
c.4246-670G>A (n.4246-670G>A)
c.4120G>A (p.Ala1374Thr)
c.4153G>A (p.Ala1385Thr)
c.4243-670G>A (n.4243-670G>A)
3g.38557249T>ACA433136212SCN5Ac.4278A>T (p.Ala1426=)
c.4281A>T (p.Ala1427=)
c.4246-671A>T (n.4246-671A>T)
c.4119A>T (p.Ala1373=)
c.4152A>T (p.Ala1384=)
c.4243-671A>T (n.4243-671A>T)
3g.38557249T>CCA433136211SCN5Ac.4278A>G (p.Ala1426=)
c.4281A>G (p.Ala1427=)
c.4246-671A>G (n.4246-671A>G)
c.4119A>G (p.Ala1373=)
c.4152A>G (p.Ala1384=)
c.4243-671A>G (n.4243-671A>G)
3g.38557249T>GCA433136210SCN5Ac.4278A>C (p.Ala1426=)
c.4281A>C (p.Ala1427=)
c.4246-671A>C (n.4246-671A>C)
c.4119A>C (p.Ala1373=)
c.4152A>C (p.Ala1384=)
c.4243-671A>C (n.4243-671A>C)
3g.38557250G>ACA352145578SCN5Ac.4277C>T (p.Ala1426Val)
c.4280C>T (p.Ala1427Val)
c.4246-672C>T (n.4246-672C>T)
c.4118C>T (p.Ala1373Val)
c.4151C>T (p.Ala1384Val)
c.4243-672C>T (n.4243-672C>T)
3g.38557250G>CCA352145579SCN5Ac.4277C>G (p.Ala1426Gly)
c.4280C>G (p.Ala1427Gly)
c.4246-672C>G (n.4246-672C>G)
c.4118C>G (p.Ala1373Gly)
c.4151C>G (p.Ala1384Gly)
c.4243-672C>G (n.4243-672C>G)
3g.38557250G=CA1358564160SCN5Ac.4277C= (p.Ala1426=)
c.4280C= (p.Ala1427=)
c.4246-672C= (n.4246-672C=)
c.4118C= (p.Ala1373=)
c.4151C= (p.Ala1384=)
c.4243-672C= (n.4243-672C=)
3g.38557250G>TCA352145580SCN5Ac.4277C>A (p.Ala1426Glu)
c.4280C>A (p.Ala1427Glu)
c.4246-672C>A (n.4246-672C>A)
c.4118C>A (p.Ala1373Glu)
c.4151C>A (p.Ala1384Glu)
c.4243-672C>A (n.4243-672C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38557251C>ACA018068SCN5Ac.4276G>T (p.Ala1426Ser)
c.4279G>T (p.Ala1427Ser)
c.4246-673G>T (n.4246-673G>T)
c.4117G>T (p.Ala1373Ser)
c.4150G>T (p.Ala1384Ser)
c.4243-673G>T (n.4243-673G>T)
 ClinVar dbSNP
3g.38557251C=CA1358564162SCN5Ac.4276G= (p.Ala1426=)
c.4279G= (p.Ala1427=)
c.4246-673G= (n.4246-673G=)
c.4117G= (p.Ala1373=)
c.4150G= (p.Ala1384=)
c.4243-673G= (n.4243-673G=)
3g.38557251C>GCA352145581SCN5Ac.4276G>C (p.Ala1426Pro)
c.4279G>C (p.Ala1427Pro)
c.4246-673G>C (n.4246-673G>C)
c.4117G>C (p.Ala1373Pro)
c.4150G>C (p.Ala1384Pro)
c.4243-673G>C (n.4243-673G>C)
3g.38557251C>TCA352145582SCN5Ac.4276G>A (p.Ala1426Thr)
c.4279G>A (p.Ala1427Thr)
c.4246-673G>A (n.4246-673G>A)
c.4117G>A (p.Ala1373Thr)
c.4150G>A (p.Ala1384Thr)
c.4243-673G>A (n.4243-673G>A)
 ClinVar
3g.38557252A=CA1358564172SCN5Ac.4275T= (p.Tyr1425=)
c.4278T= (p.Tyr1426=)
c.4246-674T= (n.4246-674T=)
c.4116T= (p.Tyr1372=)
c.4149T= (p.Tyr1383=)
c.4243-674T= (n.4243-674T=)
3g.38557252A>CCA352145583SCN5Ac.4275T>G (p.Tyr1425Ter)
c.4278T>G (p.Tyr1426Ter)
c.4246-674T>G (n.4246-674T>G)
c.4116T>G (p.Tyr1372Ter)
c.4149T>G (p.Tyr1383Ter)
c.4243-674T>G (n.4243-674T>G)
3g.38557252A>GCA433136213SCN5Ac.4275T>C (p.Tyr1425=)
c.4278T>C (p.Tyr1426=)
c.4246-674T>C (n.4246-674T>C)
c.4116T>C (p.Tyr1372=)
c.4149T>C (p.Tyr1383=)
c.4243-674T>C (n.4243-674T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.38557252A>TCA352145584SCN5Ac.4275T>A (p.Tyr1425Ter)
c.4278T>A (p.Tyr1426Ter)
c.4246-674T>A (n.4246-674T>A)
c.4116T>A (p.Tyr1372Ter)
c.4149T>A (p.Tyr1383Ter)
c.4243-674T>A (n.4243-674T>A)
3g.38557253T>ACA352145585SCN5Ac.4274A>T (p.Tyr1425Phe)
c.4277A>T (p.Tyr1426Phe)
c.4246-675A>T (n.4246-675A>T)
c.4115A>T (p.Tyr1372Phe)
c.4148A>T (p.Tyr1383Phe)
c.4243-675A>T (n.4243-675A>T)
3g.38557253T>CCA352145586SCN5Ac.4274A>G (p.Tyr1425Cys)
c.4277A>G (p.Tyr1426Cys)
c.4246-675A>G (n.4246-675A>G)
c.4115A>G (p.Tyr1372Cys)
c.4148A>G (p.Tyr1383Cys)
c.4243-675A>G (n.4243-675A>G)
 ClinVar gnomAD v4
3g.38557253T>GCA352145587SCN5Ac.4274A>C (p.Tyr1425Ser)
c.4277A>C (p.Tyr1426Ser)
c.4246-675A>C (n.4246-675A>C)
c.4115A>C (p.Tyr1372Ser)
c.4148A>C (p.Tyr1383Ser)
c.4243-675A>C (n.4243-675A>C)
3g.38557254A>CCA352145590SCN5Ac.4273T>G (p.Tyr1425Asp)
c.4276T>G (p.Tyr1426Asp)
c.4246-676T>G (n.4246-676T>G)
c.4114T>G (p.Tyr1372Asp)
c.4147T>G (p.Tyr1383Asp)
c.4243-676T>G (n.4243-676T>G)
3g.38557254A>GCA352145588SCN5Ac.4273T>C (p.Tyr1425His)
c.4276T>C (p.Tyr1426His)
c.4246-676T>C (n.4246-676T>C)
c.4114T>C (p.Tyr1372His)
c.4147T>C (p.Tyr1383His)
c.4243-676T>C (n.4243-676T>C)
3g.38557254A>TCA352145589SCN5Ac.4273T>A (p.Tyr1425Asn)
c.4276T>A (p.Tyr1426Asn)
c.4246-676T>A (n.4246-676T>A)
c.4114T>A (p.Tyr1372Asn)
c.4147T>A (p.Tyr1383Asn)
c.4243-676T>A (n.4243-676T>A)
3g.38557255C>ACA352145591SCN5Ac.4272G>T (p.Met1424Ile)
c.4275G>T (p.Met1425Ile)
c.4246-677G>T (n.4246-677G>T)
c.4113G>T (p.Met1371Ile)
c.4146G>T (p.Met1382Ile)
c.4243-677G>T (n.4243-677G>T)
3g.38557255C=CA1358564176SCN5Ac.4272G= (p.Met1424=)
c.4275G= (p.Met1425=)
c.4246-677G= (n.4246-677G=)
c.4113G= (p.Met1371=)
c.4146G= (p.Met1382=)
c.4243-677G= (n.4243-677G=)
3g.38557255C>GCA352145592SCN5Ac.4272G>C (p.Met1424Ile)
c.4275G>C (p.Met1425Ile)
c.4246-677G>C (n.4246-677G>C)
c.4113G>C (p.Met1371Ile)
c.4146G>C (p.Met1382Ile)
c.4243-677G>C (n.4243-677G>C)
3g.38557255C>TCA352145593SCN5Ac.4272G>A (p.Met1424Ile)
c.4275G>A (p.Met1425Ile)
c.4246-677G>A (n.4246-677G>A)
c.4113G>A (p.Met1371Ile)
c.4146G>A (p.Met1382Ile)
c.4243-677G>A (n.4243-677G>A)
 dbSNP gnomAD v4
3g.38557256A>CCA352145594SCN5Ac.4271T>G (p.Met1424Arg)
c.4274T>G (p.Met1425Arg)
c.4246-678T>G (n.4246-678T>G)
c.4112T>G (p.Met1371Arg)
c.4145T>G (p.Met1382Arg)
c.4243-678T>G (n.4243-678T>G)
3g.38557256A>GCA352145595SCN5Ac.4271T>C (p.Met1424Thr)
c.4274T>C (p.Met1425Thr)
c.4246-678T>C (n.4246-678T>C)
c.4112T>C (p.Met1371Thr)
c.4145T>C (p.Met1382Thr)
c.4243-678T>C (n.4243-678T>C)
 gnomAD v4
3g.38557256A>TCA352145596SCN5Ac.4271T>A (p.Met1424Lys)
c.4274T>A (p.Met1425Lys)
c.4246-678T>A (n.4246-678T>A)
c.4112T>A (p.Met1371Lys)
c.4145T>A (p.Met1382Lys)
c.4243-678T>A (n.4243-678T>A)
 ClinVar dbSNP
3g.38557257T>ACA352145597SCN5Ac.4270A>T (p.Met1424Leu)
c.4273A>T (p.Met1425Leu)
c.4246-679A>T (n.4246-679A>T)
c.4111A>T (p.Met1371Leu)
c.4144A>T (p.Met1382Leu)
c.4243-679A>T (n.4243-679A>T)
3g.38557257T>CCA352145598SCN5Ac.4270A>G (p.Met1424Val)
c.4273A>G (p.Met1425Val)
c.4246-679A>G (n.4246-679A>G)
c.4111A>G (p.Met1371Val)
c.4144A>G (p.Met1382Val)
c.4243-679A>G (n.4243-679A>G)
 gnomAD v4
3g.38557257T>GCA352145599SCN5Ac.4270A>C (p.Met1424Leu)
c.4273A>C (p.Met1425Leu)
c.4246-679A>C (n.4246-679A>C)
c.4111A>C (p.Met1371Leu)
c.4144A>C (p.Met1382Leu)
c.4243-679A>C (n.4243-679A>C)
 gnomAD v4
3g.38557257dupCA2697550804SCN5Ac.4270dup (p.Met1424AsnfsTer11)
c.4273dup (p.Met1425AsnfsTer11)
c.4246-679dup (n.4246-679dup)
c.4111dup (p.Met1371AsnfsTer11)
c.4144dup (p.Met1382AsnfsTer11)
c.4243-679dup (n.4243-679dup)
 ClinVar
3g.38557258A>CCA352145600SCN5Ac.4269T>G (p.Ile1423Met)
c.4272T>G (p.Ile1424Met)
c.4246-680T>G (n.4246-680T>G)
c.4110T>G (p.Ile1370Met)
c.4143T>G (p.Ile1381Met)
c.4243-680T>G (n.4243-680T>G)
3g.38557258A>GCA433136214SCN5Ac.4269T>C (p.Ile1423=)
c.4272T>C (p.Ile1424=)
c.4246-680T>C (n.4246-680T>C)
c.4110T>C (p.Ile1370=)
c.4143T>C (p.Ile1381=)
c.4243-680T>C (n.4243-680T>C)
3g.38557258A>TCA433136215SCN5Ac.4269T>A (p.Ile1423=)
c.4272T>A (p.Ile1424=)
c.4246-680T>A (n.4246-680T>A)
c.4110T>A (p.Ile1370=)
c.4143T>A (p.Ile1381=)
c.4243-680T>A (n.4243-680T>A)
3g.38557259A>CCA352145601SCN5Ac.4268T>G (p.Ile1423Ser)
c.4271T>G (p.Ile1424Ser)
c.4246-681T>G (n.4246-681T>G)
c.4109T>G (p.Ile1370Ser)
c.4142T>G (p.Ile1381Ser)
c.4243-681T>G (n.4243-681T>G)
3g.38557259A>GCA352145602SCN5Ac.4268T>C (p.Ile1423Thr)
c.4271T>C (p.Ile1424Thr)
c.4246-681T>C (n.4246-681T>C)
c.4109T>C (p.Ile1370Thr)
c.4142T>C (p.Ile1381Thr)
c.4243-681T>C (n.4243-681T>C)
3g.38557259A>TCA352145603SCN5Ac.4268T>A (p.Ile1423Asn)
c.4271T>A (p.Ile1424Asn)
c.4246-681T>A (n.4246-681T>A)
c.4109T>A (p.Ile1370Asn)
c.4142T>A (p.Ile1381Asn)
c.4243-681T>A (n.4243-681T>A)
3g.38557260T>ACA018062SCN5Ac.4267A>T (p.Ile1423Phe)
c.4270A>T (p.Ile1424Phe)
c.4246-682A>T (n.4246-682A>T)
c.4108A>T (p.Ile1370Phe)
c.4141A>T (p.Ile1381Phe)
c.4243-682A>T (n.4243-682A>T)
 ClinVar dbSNP
3g.38557260T>CCA063016SCN5Ac.4267A>G (p.Ile1423Val)
c.4270A>G (p.Ile1424Val)
c.4246-682A>G (n.4246-682A>G)
c.4108A>G (p.Ile1370Val)
c.4141A>G (p.Ile1381Val)
c.4243-682A>G (n.4243-682A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557260T>GCA352145604SCN5Ac.4267A>C (p.Ile1423Leu)
c.4270A>C (p.Ile1424Leu)
c.4246-682A>C (n.4246-682A>C)
c.4108A>C (p.Ile1370Leu)
c.4141A>C (p.Ile1381Leu)
c.4243-682A>C (n.4243-682A>C)
3g.38557260T=CA1358564179SCN5Ac.4267A= (p.Ile1423=)
c.4270A= (p.Ile1424=)
c.4246-682A= (n.4246-682A=)
c.4108A= (p.Ile1370=)
c.4141A= (p.Ile1381=)
c.4243-682A= (n.4243-682A=)
3g.38557261G>ACA063009SCN5Ac.4266C>T (p.Asp1422=)
c.4269C>T (p.Asp1423=)
c.4246-683C>T (n.4246-683C>T)
c.4107C>T (p.Asp1369=)
c.4140C>T (p.Asp1380=)
c.4243-683C>T (n.4243-683C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38557261G>CCA352145605SCN5Ac.4266C>G (p.Asp1422Glu)
c.4269C>G (p.Asp1423Glu)
c.4246-683C>G (n.4246-683C>G)
c.4107C>G (p.Asp1369Glu)
c.4140C>G (p.Asp1380Glu)
c.4243-683C>G (n.4243-683C>G)
3g.38557261G=CA1358564181SCN5Ac.4266C= (p.Asp1422=)
c.4269C= (p.Asp1423=)
c.4246-683C= (n.4246-683C=)
c.4107C= (p.Asp1369=)
c.4140C= (p.Asp1380=)
c.4243-683C= (n.4243-683C=)
3g.38557261G>TCA352145606SCN5Ac.4266C>A (p.Asp1422Glu)
c.4269C>A (p.Asp1423Glu)
c.4246-683C>A (n.4246-683C>A)
c.4107C>A (p.Asp1369Glu)
c.4140C>A (p.Asp1380Glu)
c.4243-683C>A (n.4243-683C>A)
 ClinVar
3g.38557262T>ACA352145607SCN5Ac.4265A>T (p.Asp1422Val)
c.4268A>T (p.Asp1423Val)
c.4246-684A>T (n.4246-684A>T)
c.4106A>T (p.Asp1369Val)
c.4139A>T (p.Asp1380Val)
c.4243-684A>T (n.4243-684A>T)
3g.38557262T>CCA72943636SCN5Ac.4265A>G (p.Asp1422Gly)
c.4268A>G (p.Asp1423Gly)
c.4246-684A>G (n.4246-684A>G)
c.4106A>G (p.Asp1369Gly)
c.4139A>G (p.Asp1380Gly)
c.4243-684A>G (n.4243-684A>G)
 dbSNP
3g.38557262T>GCA352145608SCN5Ac.4265A>C (p.Asp1422Ala)
c.4268A>C (p.Asp1423Ala)
c.4246-684A>C (n.4246-684A>C)
c.4106A>C (p.Asp1369Ala)
c.4139A>C (p.Asp1380Ala)
c.4243-684A>C (n.4243-684A>C)
3g.38557262T=CA1358564182SCN5Ac.4265A= (p.Asp1422=)
c.4268A= (p.Asp1423=)
c.4246-684A= (n.4246-684A=)
c.4106A= (p.Asp1369=)
c.4139A= (p.Asp1380=)
c.4243-684A= (n.4243-684A=)
3g.38557263C>ACA352145609SCN5Ac.4264G>T (p.Asp1422Tyr)
c.4267G>T (p.Asp1423Tyr)
c.4246-685G>T (n.4246-685G>T)
c.4105G>T (p.Asp1369Tyr)
c.4138G>T (p.Asp1380Tyr)
c.4243-685G>T (n.4243-685G>T)
3g.38557263C=CA1358564183SCN5Ac.4264G= (p.Asp1422=)
c.4267G= (p.Asp1423=)
c.4246-685G= (n.4246-685G=)
c.4105G= (p.Asp1369=)
c.4138G= (p.Asp1380=)
c.4243-685G= (n.4243-685G=)
3g.38557263C>GCA063004SCN5Ac.4264G>C (p.Asp1422His)
c.4267G>C (p.Asp1423His)
c.4246-685G>C (n.4246-685G>C)
c.4105G>C (p.Asp1369His)
c.4138G>C (p.Asp1380His)
c.4243-685G>C (n.4243-685G>C)
 dbSNP ExAC gnomAD v2
3g.38557263C>TCA088295SCN5Ac.4264G>A (p.Asp1422Asn)
c.4267G>A (p.Asp1423Asn)
c.4246-685G>A (n.4246-685G>A)
c.4105G>A (p.Asp1369Asn)
c.4138G>A (p.Asp1380Asn)
c.4243-685G>A (n.4243-685G>A)
 ClinVar dbSNP
3g.38557264C>ACA352145610SCN5Ac.4263G>T (p.Met1421Ile)
c.4266G>T (p.Met1422Ile)
c.4246-686G>T (n.4246-686G>T)
c.4104G>T (p.Met1368Ile)
c.4137G>T (p.Met1379Ile)
c.4243-686G>T (n.4243-686G>T)
3g.38557264C>GCA352145611SCN5Ac.4263G>C (p.Met1421Ile)
c.4266G>C (p.Met1422Ile)
c.4246-686G>C (n.4246-686G>C)
c.4104G>C (p.Met1368Ile)
c.4137G>C (p.Met1379Ile)
c.4243-686G>C (n.4243-686G>C)
3g.38557264C>TCA352145612SCN5Ac.4263G>A (p.Met1421Ile)
c.4266G>A (p.Met1422Ile)
c.4246-686G>A (n.4246-686G>A)
c.4104G>A (p.Met1368Ile)
c.4137G>A (p.Met1379Ile)
c.4243-686G>A (n.4243-686G>A)
3g.38557265A=CA1358564187SCN5Ac.4262T= (p.Met1421=)
c.4265T= (p.Met1422=)
c.4246-687T= (n.4246-687T=)
c.4103T= (p.Met1368=)
c.4136T= (p.Met1379=)
c.4243-687T= (n.4243-687T=)
3g.38557265A>CCA352145615SCN5Ac.4262T>G (p.Met1421Arg)
c.4265T>G (p.Met1422Arg)
c.4246-687T>G (n.4246-687T>G)
c.4103T>G (p.Met1368Arg)
c.4136T>G (p.Met1379Arg)
c.4243-687T>G (n.4243-687T>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38557265A>GCA352145614SCN5Ac.4262T>C (p.Met1421Thr)
c.4265T>C (p.Met1422Thr)
c.4246-687T>C (n.4246-687T>C)
c.4103T>C (p.Met1368Thr)
c.4136T>C (p.Met1379Thr)
c.4243-687T>C (n.4243-687T>C)
 dbSNP gnomAD v3 gnomAD v4
3g.38557265A>TCA352145613SCN5Ac.4262T>A (p.Met1421Lys)
c.4265T>A (p.Met1422Lys)
c.4246-687T>A (n.4246-687T>A)
c.4103T>A (p.Met1368Lys)
c.4136T>A (p.Met1379Lys)
c.4243-687T>A (n.4243-687T>A)
3g.38557266T>ACA352145616SCN5Ac.4261A>T (p.Met1421Leu)
c.4264A>T (p.Met1422Leu)
c.4246-688A>T (n.4246-688A>T)
c.4102A>T (p.Met1368Leu)
c.4135A>T (p.Met1379Leu)
c.4243-688A>T (n.4243-688A>T)
3g.38557266T>CCA352145617SCN5Ac.4261A>G (p.Met1421Val)
c.4264A>G (p.Met1422Val)
c.4246-688A>G (n.4246-688A>G)
c.4102A>G (p.Met1368Val)
c.4135A>G (p.Met1379Val)
c.4243-688A>G (n.4243-688A>G)
 gnomAD v4
3g.38557266T>GCA352145618SCN5Ac.4261A>C (p.Met1421Leu)
c.4264A>C (p.Met1422Leu)
c.4246-688A>C (n.4246-688A>C)
c.4102A>C (p.Met1368Leu)
c.4135A>C (p.Met1379Leu)
c.4243-688A>C (n.4243-688A>C)
3g.38557267C>ACA352145619SCN5Ac.4260G>T (p.Trp1420Cys)
c.4263G>T (p.Trp1421Cys)
c.4246-689G>T (n.4246-689G>T)
c.4101G>T (p.Trp1367Cys)
c.4134G>T (p.Trp1378Cys)
c.4243-689G>T (n.4243-689G>T)
3g.38557267C=CA1358564191SCN5Ac.4260G= (p.Trp1420=)
c.4263G= (p.Trp1421=)
c.4246-689G= (n.4246-689G=)
c.4101G= (p.Trp1367=)
c.4134G= (p.Trp1378=)
c.4243-689G= (n.4243-689G=)
3g.38557267C>GCA352145620SCN5Ac.4260G>C (p.Trp1420Cys)
c.4263G>C (p.Trp1421Cys)
c.4246-689G>C (n.4246-689G>C)
c.4101G>C (p.Trp1367Cys)
c.4134G>C (p.Trp1378Cys)
c.4243-689G>C (n.4243-689G>C)
3g.38557267C>TCA352145621SCN5Ac.4260G>A (p.Trp1420Ter)
c.4263G>A (p.Trp1421Ter)
c.4246-689G>A (n.4246-689G>A)
c.4101G>A (p.Trp1367Ter)
c.4134G>A (p.Trp1378Ter)
c.4243-689G>A (n.4243-689G>A)
 dbSNP
3g.38557268C>ACA352145622SCN5Ac.4259G>T (p.Trp1420Leu)
c.4262G>T (p.Trp1421Leu)
c.4246-690G>T (n.4246-690G>T)
c.4100G>T (p.Trp1367Leu)
c.4133G>T (p.Trp1378Leu)
c.4243-690G>T (n.4243-690G>T)
3g.38557268C=CA1358564192SCN5Ac.4259G= (p.Trp1420=)
c.4262G= (p.Trp1421=)
c.4246-690G= (n.4246-690G=)
c.4100G= (p.Trp1367=)
c.4133G= (p.Trp1378=)
c.4243-690G= (n.4243-690G=)
3g.38557268C>GCA352145623SCN5Ac.4259G>C (p.Trp1420Ser)
c.4262G>C (p.Trp1421Ser)
c.4246-690G>C (n.4246-690G>C)
c.4100G>C (p.Trp1367Ser)
c.4133G>C (p.Trp1378Ser)
c.4243-690G>C (n.4243-690G>C)
3g.38557268C>TCA018056SCN5Ac.4259G>A (p.Trp1420Ter)
c.4262G>A (p.Trp1421Ter)
c.4246-690G>A (n.4246-690G>A)
c.4100G>A (p.Trp1367Ter)
c.4133G>A (p.Trp1378Ter)
c.4243-690G>A (n.4243-690G>A)
 ClinVar dbSNP
3g.38557269A>CCA352145624SCN5Ac.4258T>G (p.Trp1420Gly)
c.4261T>G (p.Trp1421Gly)
c.4246-691T>G (n.4246-691T>G)
c.4099T>G (p.Trp1367Gly)
c.4132T>G (p.Trp1378Gly)
c.4243-691T>G (n.4243-691T>G)
3g.38557269A>GCA352145625SCN5Ac.4258T>C (p.Trp1420Arg)
c.4261T>C (p.Trp1421Arg)
c.4246-691T>C (n.4246-691T>C)
c.4099T>C (p.Trp1367Arg)
c.4132T>C (p.Trp1378Arg)
c.4243-691T>C (n.4243-691T>C)
 ClinVar
3g.38557269A>TCA352145626SCN5Ac.4258T>A (p.Trp1420Arg)
c.4261T>A (p.Trp1421Arg)
c.4246-691T>A (n.4246-691T>A)
c.4099T>A (p.Trp1367Arg)
c.4132T>A (p.Trp1378Arg)
c.4243-691T>A (n.4243-691T>A)
3g.38557270G>ACA433136224SCN5Ac.4257C>T (p.Gly1419=)
c.4260C>T (p.Gly1420=)
c.4246-692C>T (n.4246-692C>T)
c.4098C>T (p.Gly1366=)
c.4131C>T (p.Gly1377=)
c.4243-692C>T (n.4243-692C>T)
3g.38557270G>CCA433136225SCN5Ac.4257C>G (p.Gly1419=)
c.4260C>G (p.Gly1420=)
c.4246-692C>G (n.4246-692C>G)
c.4098C>G (p.Gly1366=)
c.4131C>G (p.Gly1377=)
c.4243-692C>G (n.4243-692C>G)
3g.38557270G>TCA433136226SCN5Ac.4257C>A (p.Gly1419=)
c.4260C>A (p.Gly1420=)
c.4246-692C>A (n.4246-692C>A)
c.4098C>A (p.Gly1366=)
c.4131C>A (p.Gly1377=)
c.4243-692C>A (n.4243-692C>A)
3g.38557271C>ACA018048SCN5Ac.4256G>T (p.Gly1419Val)
c.4259G>T (p.Gly1420Val)
c.4246-693G>T (n.4246-693G>T)
c.4097G>T (p.Gly1366Val)
c.4130G>T (p.Gly1377Val)
c.4243-693G>T (n.4243-693G>T)
 ClinVar dbSNP
3g.38557271C=CA1358564193SCN5Ac.4256G= (p.Gly1419=)
c.4259G= (p.Gly1420=)
c.4246-693G= (n.4246-693G=)
c.4097G= (p.Gly1366=)
c.4130G= (p.Gly1377=)
c.4243-693G= (n.4243-693G=)
3g.38557271C>GCA352145628SCN5Ac.4256G>C (p.Gly1419Ala)
c.4259G>C (p.Gly1420Ala)
c.4246-693G>C (n.4246-693G>C)
c.4097G>C (p.Gly1366Ala)
c.4130G>C (p.Gly1377Ala)
c.4243-693G>C (n.4243-693G>C)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38557271C>TCA352145627SCN5Ac.4256G>A (p.Gly1419Asp)
c.4259G>A (p.Gly1420Asp)
c.4246-693G>A (n.4246-693G>A)
c.4097G>A (p.Gly1366Asp)
c.4130G>A (p.Gly1377Asp)
c.4243-693G>A (n.4243-693G>A)
 gnomAD v4
3g.38557272C>ACA352145629SCN5Ac.4255G>T (p.Gly1419Cys)
c.4258G>T (p.Gly1420Cys)
c.4246-694G>T (n.4246-694G>T)
c.4096G>T (p.Gly1366Cys)
c.4129G>T (p.Gly1377Cys)
c.4243-694G>T (n.4243-694G>T)
 ClinVar
3g.38557272C=CA1358564200SCN5Ac.4255G= (p.Gly1419=)
c.4258G= (p.Gly1420=)
c.4246-694G= (n.4246-694G=)
c.4096G= (p.Gly1366=)
c.4129G= (p.Gly1377=)
c.4243-694G= (n.4243-694G=)
3g.38557272C>GCA018042SCN5Ac.4255G>C (p.Gly1419Arg)
c.4258G>C (p.Gly1420Arg)
c.4246-694G>C (n.4246-694G>C)
c.4096G>C (p.Gly1366Arg)
c.4129G>C (p.Gly1377Arg)
c.4243-694G>C (n.4243-694G>C)
 ClinVar dbSNP
3g.38557272C>TCA352145630SCN5Ac.4255G>A (p.Gly1419Ser)
c.4258G>A (p.Gly1420Ser)
c.4246-694G>A (n.4246-694G>A)
c.4096G>A (p.Gly1366Ser)
c.4129G>A (p.Gly1377Ser)
c.4243-694G>A (n.4243-694G>A)
 COSMIC COSMIC COSMIC
3g.38557273T>ACA352145631SCN5Ac.4254A>T (p.Lys1418Asn)
c.4257A>T (p.Lys1419Asn)
c.4246-695A>T (n.4246-695A>T)
c.4095A>T (p.Lys1365Asn)
c.4128A>T (p.Lys1376Asn)
c.4243-695A>T (n.4243-695A>T)
3g.38557273T>CCA433136228SCN5Ac.4254A>G (p.Lys1418=)
c.4257A>G (p.Lys1419=)
c.4246-695A>G (n.4246-695A>G)
c.4095A>G (p.Lys1365=)
c.4128A>G (p.Lys1376=)
c.4243-695A>G (n.4243-695A>G)
3g.38557273T>GCA352145632SCN5Ac.4254A>C (p.Lys1418Asn)
c.4257A>C (p.Lys1419Asn)
c.4246-695A>C (n.4246-695A>C)
c.4095A>C (p.Lys1365Asn)
c.4128A>C (p.Lys1376Asn)
c.4243-695A>C (n.4243-695A>C)
3g.38557274T>ACA352145633SCN5Ac.4253A>T (p.Lys1418Ile)
c.4256A>T (p.Lys1419Ile)
c.4246-696A>T (n.4246-696A>T)
c.4094A>T (p.Lys1365Ile)
c.4127A>T (p.Lys1376Ile)
c.4243-696A>T (n.4243-696A>T)
3g.38557274T>CCA352145634SCN5Ac.4253A>G (p.Lys1418Arg)
c.4256A>G (p.Lys1419Arg)
c.4246-696A>G (n.4246-696A>G)
c.4094A>G (p.Lys1365Arg)
c.4127A>G (p.Lys1376Arg)
c.4243-696A>G (n.4243-696A>G)
3g.38557274T>GCA352145635SCN5Ac.4253A>C (p.Lys1418Thr)
c.4256A>C (p.Lys1419Thr)
c.4246-696A>C (n.4246-696A>C)
c.4094A>C (p.Lys1365Thr)
c.4127A>C (p.Lys1376Thr)
c.4243-696A>C (n.4243-696A>C)
3g.38557275T>ACA352145636SCN5Ac.4252A>T (p.Lys1418Ter)
c.4255A>T (p.Lys1419Ter)
c.4246-697A>T (n.4246-697A>T)
c.4093A>T (p.Lys1365Ter)
c.4126A>T (p.Lys1376Ter)
c.4243-697A>T (n.4243-697A>T)
 dbSNP
3g.38557275T>CCA018037SCN5Ac.4252A>G (p.Lys1418Glu)
c.4255A>G (p.Lys1419Glu)
c.4246-697A>G (n.4246-697A>G)
c.4093A>G (p.Lys1365Glu)
c.4126A>G (p.Lys1376Glu)
c.4243-697A>G (n.4243-697A>G)
 ClinVar dbSNP
3g.38557275T>GCA352145637SCN5Ac.4252A>C (p.Lys1418Gln)
c.4255A>C (p.Lys1419Gln)
c.4246-697A>C (n.4246-697A>C)
c.4093A>C (p.Lys1365Gln)
c.4126A>C (p.Lys1376Gln)
c.4243-697A>C (n.4243-697A>C)
3g.38557275T=CA1358564206SCN5Ac.4252A= (p.Lys1418=)
c.4255A= (p.Lys1419=)
c.4246-697A= (n.4246-697A=)
c.4093A= (p.Lys1365=)
c.4126A= (p.Lys1376=)
c.4243-697A= (n.4243-697A=)
3g.38557276A>CCA352145638SCN5Ac.4251T>G (p.Phe1417Leu)
c.4254T>G (p.Phe1418Leu)
c.4246-698T>G (n.4246-698T>G)
c.4092T>G (p.Phe1364Leu)
c.4125T>G (p.Phe1375Leu)
c.4243-698T>G (n.4243-698T>G)
3g.38557276A>GCA433136235SCN5Ac.4251T>C (p.Phe1417=)
c.4254T>C (p.Phe1418=)
c.4246-698T>C (n.4246-698T>C)
c.4092T>C (p.Phe1364=)
c.4125T>C (p.Phe1375=)
c.4243-698T>C (n.4243-698T>C)
3g.38557276A>TCA352145639SCN5Ac.4251T>A (p.Phe1417Leu)
c.4254T>A (p.Phe1418Leu)
c.4246-698T>A (n.4246-698T>A)
c.4092T>A (p.Phe1364Leu)
c.4125T>A (p.Phe1375Leu)
c.4243-698T>A (n.4243-698T>A)
3g.38557277A>CCA352145640SCN5Ac.4250T>G (p.Phe1417Cys)
c.4253T>G (p.Phe1418Cys)
c.4246-699T>G (n.4246-699T>G)
c.4091T>G (p.Phe1364Cys)
c.4124T>G (p.Phe1375Cys)
c.4243-699T>G (n.4243-699T>G)
3g.38557277A>GCA352145641SCN5Ac.4250T>C (p.Phe1417Ser)
c.4253T>C (p.Phe1418Ser)
c.4246-699T>C (n.4246-699T>C)
c.4091T>C (p.Phe1364Ser)
c.4124T>C (p.Phe1375Ser)
c.4243-699T>C (n.4243-699T>C)
3g.38557277A>TCA352145642SCN5Ac.4250T>A (p.Phe1417Tyr)
c.4253T>A (p.Phe1418Tyr)
c.4246-699T>A (n.4246-699T>A)
c.4091T>A (p.Phe1364Tyr)
c.4124T>A (p.Phe1375Tyr)
c.4243-699T>A (n.4243-699T>A)
3g.38557278A>CCA352145645SCN5Ac.4249T>G (p.Phe1417Val)
c.4252T>G (p.Phe1418Val)
c.4246-700T>G (n.4246-700T>G)
c.4090T>G (p.Phe1364Val)
c.4123T>G (p.Phe1375Val)
c.4243-700T>G (n.4243-700T>G)
3g.38557278A>GCA352145644SCN5Ac.4249T>C (p.Phe1417Leu)
c.4252T>C (p.Phe1418Leu)
c.4246-700T>C (n.4246-700T>C)
c.4090T>C (p.Phe1364Leu)
c.4123T>C (p.Phe1375Leu)
c.4243-700T>C (n.4243-700T>C)
3g.38557278A>TCA352145643SCN5Ac.4249T>A (p.Phe1417Ile)
c.4252T>A (p.Phe1418Ile)
c.4246-700T>A (n.4246-700T>A)
c.4090T>A (p.Phe1364Ile)
c.4123T>A (p.Phe1375Ile)
c.4243-700T>A (n.4243-700T>A)
3g.38557279T>ACA433136239SCN5Ac.4248A>T (p.Thr1416=)
c.4251A>T (p.Thr1417=)
c.4246-701A>T (n.4246-701A>T)
c.4089A>T (p.Thr1363=)
c.4122A>T (p.Thr1374=)
c.4243-701A>T (n.4243-701A>T)
3g.38557279T>CCA433136241SCN5Ac.4248A>G (p.Thr1416=)
c.4251A>G (p.Thr1417=)
c.4246-701A>G (n.4246-701A>G)
c.4089A>G (p.Thr1363=)
c.4122A>G (p.Thr1374=)
c.4243-701A>G (n.4243-701A>G)
3g.38557279T>GCA433136242SCN5Ac.4248A>C (p.Thr1416=)
c.4251A>C (p.Thr1417=)
c.4246-701A>C (n.4246-701A>C)
c.4089A>C (p.Thr1363=)
c.4122A>C (p.Thr1374=)
c.4243-701A>C (n.4243-701A>C)
3g.38557280G>ACA352145646SCN5Ac.4247C>T (p.Thr1416Ile)
c.4250C>T (p.Thr1417Ile)
c.4246-702C>T (n.4246-702C>T)
c.4088C>T (p.Thr1363Ile)
c.4121C>T (p.Thr1374Ile)
c.4243-702C>T (n.4243-702C>T)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38557280G>CCA352145647SCN5Ac.4247C>G (p.Thr1416Arg)
c.4250C>G (p.Thr1417Arg)
c.4246-702C>G (n.4246-702C>G)
c.4088C>G (p.Thr1363Arg)
c.4121C>G (p.Thr1374Arg)
c.4243-702C>G (n.4243-702C>G)
3g.38557280G=CA1358564207SCN5Ac.4247C= (p.Thr1416=)
c.4250C= (p.Thr1417=)
c.4246-702C= (n.4246-702C=)
c.4088C= (p.Thr1363=)
c.4121C= (p.Thr1374=)
c.4243-702C= (n.4243-702C=)
3g.38557280G>TCA352145648SCN5Ac.4247C>A (p.Thr1416Lys)
c.4250C>A (p.Thr1417Lys)
c.4246-702C>A (n.4246-702C>A)
c.4088C>A (p.Thr1363Lys)
c.4121C>A (p.Thr1374Lys)
c.4243-702C>A (n.4243-702C>A)
3g.38557281T>ACA352145649SCN5Ac.4246A>T (p.Thr1416Ser)
c.4249A>T (p.Thr1417Ser)
c.4246-703A>T (n.4246-703A>T)
c.4087A>T (p.Thr1363Ser)
c.4120A>T (p.Thr1374Ser)
c.4243-703A>T (n.4243-703A>T)
3g.38557281T>CCA352145650SCN5Ac.4246A>G (p.Thr1416Ala)
c.4249A>G (p.Thr1417Ala)
c.4246-703A>G (n.4246-703A>G)
c.4087A>G (p.Thr1363Ala)
c.4120A>G (p.Thr1374Ala)
c.4243-703A>G (n.4243-703A>G)
3g.38557281T>GCA352145651SCN5Ac.4246A>C (p.Thr1416Pro)
c.4249A>C (p.Thr1417Pro)
c.4246-703A>C (n.4246-703A>C)
c.4087A>C (p.Thr1363Pro)
c.4120A>C (p.Thr1374Pro)
c.4243-703A>C (n.4243-703A>C)
3g.38557282T>ACA433136246SCN5Ac.4245A>T (p.Ala1415=)
c.4248A>T (p.Ala1416=)
c.4246-704A>T (n.4246-704A>T)
c.4086A>T (p.Ala1362=)
c.4119A>T (p.Ala1373=)
c.4243-704A>T (n.4243-704A>T)
3g.38557282T>CCA433136247SCN5Ac.4245A>G (p.Ala1415=)
c.4248A>G (p.Ala1416=)
c.4246-704A>G (n.4246-704A>G)
c.4086A>G (p.Ala1362=)
c.4119A>G (p.Ala1373=)
c.4243-704A>G (n.4243-704A>G)
3g.38557282T>GCA433136249SCN5Ac.4245A>C (p.Ala1415=)
c.4248A>C (p.Ala1416=)
c.4246-704A>C (n.4246-704A>C)
c.4086A>C (p.Ala1362=)
c.4119A>C (p.Ala1373=)
c.4243-704A>C (n.4243-704A>C)
3g.38557283G>ACA352145652SCN5Ac.4244C>T (p.Ala1415Val)
c.4247C>T (p.Ala1416Val)
c.4246-705C>T (n.4246-705C>T)
c.4085C>T (p.Ala1362Val)
c.4118C>T (p.Ala1373Val)
c.4243-705C>T (n.4243-705C>T)
3g.38557283G>CCA352145653SCN5Ac.4244C>G (p.Ala1415Gly)
c.4247C>G (p.Ala1416Gly)
c.4246-705C>G (n.4246-705C>G)
c.4085C>G (p.Ala1362Gly)
c.4118C>G (p.Ala1373Gly)
c.4243-705C>G (n.4243-705C>G)
3g.38557283G>TCA352145654SCN5Ac.4244C>A (p.Ala1415Glu)
c.4247C>A (p.Ala1416Glu)
c.4246-705C>A (n.4246-705C>A)
c.4085C>A (p.Ala1362Glu)
c.4118C>A (p.Ala1373Glu)
c.4243-705C>A (n.4243-705C>A)
3g.38557284C>ACA352145655SCN5Ac.4243G>T (p.Ala1415Ser)
c.4246G>T (p.Ala1416Ser)
c.4246-706G>T (n.4246-706G>T)
c.4084G>T (p.Ala1362Ser)
c.4117G>T (p.Ala1373Ser)
c.4243-706G>T (n.4243-706G>T)
3g.38557284C>GCA352145656SCN5Ac.4243G>C (p.Ala1415Pro)
c.4246G>C (p.Ala1416Pro)
c.4246-706G>C (n.4246-706G>C)
c.4084G>C (p.Ala1362Pro)
c.4117G>C (p.Ala1373Pro)
c.4243-706G>C (n.4243-706G>C)
3g.38557284C>TCA352145657SCN5Ac.4243G>A (p.Ala1415Thr)
c.4246G>A (p.Ala1416Thr)
c.4246-706G>A (n.4246-706G>A)
c.4084G>A (p.Ala1362Thr)
c.4117G>A (p.Ala1373Thr)
c.4243-706G>A (n.4243-706G>A)
 ClinVar dbSNP
3g.38557285C>ACA352145660SCN5Ac.4243-1G>T (n.4243-1G>T)
c.4246-1G>T (n.4246-1G>T)
c.4246-707G>T (n.4246-707G>T)
c.4084-1G>T (n.4084-1G>T)
c.4117-1G>T (n.4117-1G>T)
c.4243-707G>T (n.4243-707G>T)
3g.38557285C>GCA352145659SCN5Ac.4243-1G>C (n.4243-1G>C)
c.4246-1G>C (n.4246-1G>C)
c.4246-707G>C (n.4246-707G>C)
c.4084-1G>C (n.4084-1G>C)
c.4117-1G>C (n.4117-1G>C)
c.4243-707G>C (n.4243-707G>C)
3g.38557285C>TCA352145658SCN5Ac.4243-1G>A (n.4243-1G>A)
c.4246-1G>A (n.4246-1G>A)
c.4246-707G>A (n.4246-707G>A)
c.4084-1G>A (n.4084-1G>A)
c.4117-1G>A (n.4117-1G>A)
c.4243-707G>A (n.4243-707G>A)
 gnomAD v3 gnomAD v4
3g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCCA1046993066SCN5Ac.4243-1_4243insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4243-1_4243insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
c.4246-1_4246insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4246-1_4246insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
c.4246-707_4246-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4246-707_4246-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
c.4084-1_4084insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4084-1_4084insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
c.4117-1_4117insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4117-1_4117insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
c.4243-707_4243-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4243-707_4243-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG)
 gnomAD v3 gnomAD v4
3g.38557285_38557286delinsCTCA1358564209SCN5Ac.4243-2_4243-1delinsAG (n.4243-2_4243-1delinsAG)
c.4246-2_4246-1delinsAG (n.4246-2_4246-1delinsAG)
c.4246-708_4246-707delinsAG (n.4246-708_4246-707delinsAG)
c.4084-2_4084-1delinsAG (n.4084-2_4084-1delinsAG)
c.4117-2_4117-1delinsAG (n.4117-2_4117-1delinsAG)
c.4243-708_4243-707delinsAG (n.4243-708_4243-707delinsAG)
3g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTGCA2665111258SCN5Ac.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
c.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
c.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT)
 gnomAD v4
3g.38557286delCA018030SCN5Ac.4243-2del (n.4243-2del)
c.4246-2del (n.4246-2del)
c.4246-708del (n.4246-708del)
c.4084-2del (n.4084-2del)
c.4117-2del (n.4117-2del)
c.4243-708del (n.4243-708del)
 ClinVar dbSNP
3g.38557286T>ACA352145661SCN5Ac.4243-2A>T (n.4243-2A>T)
c.4246-2A>T (n.4246-2A>T)
c.4246-708A>T (n.4246-708A>T)
c.4084-2A>T (n.4084-2A>T)
c.4117-2A>T (n.4117-2A>T)
c.4243-708A>T (n.4243-708A>T)
 dbSNP
3g.38557286T>CCA352145662SCN5Ac.4243-2A>G (n.4243-2A>G)
c.4246-2A>G (n.4246-2A>G)
c.4246-708A>G (n.4246-708A>G)
c.4084-2A>G (n.4084-2A>G)
c.4117-2A>G (n.4117-2A>G)
c.4243-708A>G (n.4243-708A>G)
 ClinVar dbSNP
3g.38557286T>GCA352145663SCN5Ac.4243-2A>C (n.4243-2A>C)
c.4246-2A>C (n.4246-2A>C)
c.4246-708A>C (n.4246-708A>C)
c.4084-2A>C (n.4084-2A>C)
c.4117-2A>C (n.4117-2A>C)
c.4243-708A>C (n.4243-708A>C)
3g.38557286T=CA1358564218SCN5Ac.4243-2A= (n.4243-2A=)
c.4246-2A= (n.4246-2A=)
c.4246-708A= (n.4246-708A=)
c.4084-2A= (n.4084-2A=)
c.4117-2A= (n.4117-2A=)
c.4243-708A= (n.4243-708A=)
3g.38557287G>ACA2665111259SCN5Ac.4243-3C>T (n.4243-3C>T)
c.4246-3C>T (n.4246-3C>T)
c.4246-709C>T (n.4246-709C>T)
c.4084-3C>T (n.4084-3C>T)
c.4117-3C>T (n.4117-3C>T)
c.4243-709C>T (n.4243-709C>T)
 gnomAD v4

Number of alleles fetched