Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38555583C>ACA2665110683SCN5Ac.4539+73G>T (n.4539+73G>T)
c.4542+73G>T (n.4542+73G>T)
c.4488+73G>T (n.4488+73G>T)
c.4380+73G>T (n.4380+73G>T)
c.4413+73G>T (n.4413+73G>T)
c.4485+73G>T (n.4485+73G>T)
 gnomAD v4
3g.38555583C=CA1358562697SCN5Ac.4539+73G= (n.4539+73G=)
c.4542+73G= (n.4542+73G=)
c.4488+73G= (n.4488+73G=)
c.4380+73G= (n.4380+73G=)
c.4413+73G= (n.4413+73G=)
c.4485+73G= (n.4485+73G=)
3g.38555583C>TCA72942945SCN5Ac.4539+73G>A (n.4539+73G>A)
c.4542+73G>A (n.4542+73G>A)
c.4488+73G>A (n.4488+73G>A)
c.4380+73G>A (n.4380+73G>A)
c.4413+73G>A (n.4413+73G>A)
c.4485+73G>A (n.4485+73G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555585T>GCA2665110684SCN5Ac.4539+71A>C (n.4539+71A>C)
c.4542+71A>C (n.4542+71A>C)
c.4488+71A>C (n.4488+71A>C)
c.4380+71A>C (n.4380+71A>C)
c.4413+71A>C (n.4413+71A>C)
c.4485+71A>C (n.4485+71A>C)
 gnomAD v4
3g.38555586G>CCA2755901298SCN5Ac.4539+70C>G (n.4539+70C>G)
c.4542+70C>G (n.4542+70C>G)
c.4488+70C>G (n.4488+70C>G)
c.4380+70C>G (n.4380+70C>G)
c.4413+70C>G (n.4413+70C>G)
c.4485+70C>G (n.4485+70C>G)
3g.38555586G>TCA2665110685SCN5Ac.4539+70C>A (n.4539+70C>A)
c.4542+70C>A (n.4542+70C>A)
c.4488+70C>A (n.4488+70C>A)
c.4380+70C>A (n.4380+70C>A)
c.4413+70C>A (n.4413+70C>A)
c.4485+70C>A (n.4485+70C>A)
 gnomAD v4
3g.38555587T>CCA2558499178SCN5Ac.4539+69A>G (n.4539+69A>G)
c.4542+69A>G (n.4542+69A>G)
c.4488+69A>G (n.4488+69A>G)
c.4380+69A>G (n.4380+69A>G)
c.4413+69A>G (n.4413+69A>G)
c.4485+69A>G (n.4485+69A>G)
 gnomAD v4
3g.38555588G>ACA2577553301SCN5Ac.4539+68C>T (n.4539+68C>T)
c.4542+68C>T (n.4542+68C>T)
c.4488+68C>T (n.4488+68C>T)
c.4380+68C>T (n.4380+68C>T)
c.4413+68C>T (n.4413+68C>T)
c.4485+68C>T (n.4485+68C>T)
3g.38555588G>TCA2577553302SCN5Ac.4539+68C>A (n.4539+68C>A)
c.4542+68C>A (n.4542+68C>A)
c.4488+68C>A (n.4488+68C>A)
c.4380+68C>A (n.4380+68C>A)
c.4413+68C>A (n.4413+68C>A)
c.4485+68C>A (n.4485+68C>A)
 gnomAD v4
3g.38555589delCA2665110686SCN5Ac.4539+68del (n.4539+68del)
c.4542+68del (n.4542+68del)
c.4488+68del (n.4488+68del)
c.4380+68del (n.4380+68del)
c.4413+68del (n.4413+68del)
c.4485+68del (n.4485+68del)
 gnomAD v4
3g.38555589G>ACA2665110687SCN5Ac.4539+67C>T (n.4539+67C>T)
c.4542+67C>T (n.4542+67C>T)
c.4488+67C>T (n.4488+67C>T)
c.4380+67C>T (n.4380+67C>T)
c.4413+67C>T (n.4413+67C>T)
c.4485+67C>T (n.4485+67C>T)
 gnomAD v4
3g.38555589G>CCA1358562701SCN5Ac.4539+67C>G (n.4539+67C>G)
c.4542+67C>G (n.4542+67C>G)
c.4488+67C>G (n.4488+67C>G)
c.4380+67C>G (n.4380+67C>G)
c.4413+67C>G (n.4413+67C>G)
c.4485+67C>G (n.4485+67C>G)
 dbSNP
3g.38555589G=CA1358562699SCN5Ac.4539+67C= (n.4539+67C=)
c.4542+67C= (n.4542+67C=)
c.4488+67C= (n.4488+67C=)
c.4380+67C= (n.4380+67C=)
c.4413+67C= (n.4413+67C=)
c.4485+67C= (n.4485+67C=)
3g.38555589G>TCA2665110688SCN5Ac.4539+67C>A (n.4539+67C>A)
c.4542+67C>A (n.4542+67C>A)
c.4488+67C>A (n.4488+67C>A)
c.4380+67C>A (n.4380+67C>A)
c.4413+67C>A (n.4413+67C>A)
c.4485+67C>A (n.4485+67C>A)
 gnomAD v4
3g.38555590C>ACA2665110689SCN5Ac.4539+66G>T (n.4539+66G>T)
c.4542+66G>T (n.4542+66G>T)
c.4488+66G>T (n.4488+66G>T)
c.4380+66G>T (n.4380+66G>T)
c.4413+66G>T (n.4413+66G>T)
c.4485+66G>T (n.4485+66G>T)
 gnomAD v4
3g.38555590C>GCA2577553303SCN5Ac.4539+66G>C (n.4539+66G>C)
c.4542+66G>C (n.4542+66G>C)
c.4488+66G>C (n.4488+66G>C)
c.4380+66G>C (n.4380+66G>C)
c.4413+66G>C (n.4413+66G>C)
c.4485+66G>C (n.4485+66G>C)
3g.38555590C>TCA2665110690SCN5Ac.4539+66G>A (n.4539+66G>A)
c.4542+66G>A (n.4542+66G>A)
c.4488+66G>A (n.4488+66G>A)
c.4380+66G>A (n.4380+66G>A)
c.4413+66G>A (n.4413+66G>A)
c.4485+66G>A (n.4485+66G>A)
 gnomAD v4
3g.38555592C=CA1358562702SCN5Ac.4539+64G= (n.4539+64G=)
c.4542+64G= (n.4542+64G=)
c.4488+64G= (n.4488+64G=)
c.4380+64G= (n.4380+64G=)
c.4413+64G= (n.4413+64G=)
c.4485+64G= (n.4485+64G=)
3g.38555592C>GCA2665110691SCN5Ac.4539+64G>C (n.4539+64G>C)
c.4542+64G>C (n.4542+64G>C)
c.4488+64G>C (n.4488+64G>C)
c.4380+64G>C (n.4380+64G>C)
c.4413+64G>C (n.4413+64G>C)
c.4485+64G>C (n.4485+64G>C)
 gnomAD v4
3g.38555592C>TCA72942949SCN5Ac.4539+64G>A (n.4539+64G>A)
c.4542+64G>A (n.4542+64G>A)
c.4488+64G>A (n.4488+64G>A)
c.4380+64G>A (n.4380+64G>A)
c.4413+64G>A (n.4413+64G>A)
c.4485+64G>A (n.4485+64G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38555593G>ACA72942951SCN5Ac.4539+63C>T (n.4539+63C>T)
c.4542+63C>T (n.4542+63C>T)
c.4488+63C>T (n.4488+63C>T)
c.4380+63C>T (n.4380+63C>T)
c.4413+63C>T (n.4413+63C>T)
c.4485+63C>T (n.4485+63C>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38555593G=CA1358562703SCN5Ac.4539+63C= (n.4539+63C=)
c.4542+63C= (n.4542+63C=)
c.4488+63C= (n.4488+63C=)
c.4380+63C= (n.4380+63C=)
c.4413+63C= (n.4413+63C=)
c.4485+63C= (n.4485+63C=)
3g.38555593G>TCA2577553304SCN5Ac.4539+63C>A (n.4539+63C>A)
c.4542+63C>A (n.4542+63C>A)
c.4488+63C>A (n.4488+63C>A)
c.4380+63C>A (n.4380+63C>A)
c.4413+63C>A (n.4413+63C>A)
c.4485+63C>A (n.4485+63C>A)
 gnomAD v4
3g.38555595A>GCA2665110692SCN5Ac.4539+61T>C (n.4539+61T>C)
c.4542+61T>C (n.4542+61T>C)
c.4488+61T>C (n.4488+61T>C)
c.4380+61T>C (n.4380+61T>C)
c.4413+61T>C (n.4413+61T>C)
c.4485+61T>C (n.4485+61T>C)
 gnomAD v4
3g.38555596A>GCA2665110693SCN5Ac.4539+60T>C (n.4539+60T>C)
c.4542+60T>C (n.4542+60T>C)
c.4488+60T>C (n.4488+60T>C)
c.4380+60T>C (n.4380+60T>C)
c.4413+60T>C (n.4413+60T>C)
c.4485+60T>C (n.4485+60T>C)
 gnomAD v4
3g.38555597G>ACA2665110694SCN5Ac.4539+59C>T (n.4539+59C>T)
c.4542+59C>T (n.4542+59C>T)
c.4488+59C>T (n.4488+59C>T)
c.4380+59C>T (n.4380+59C>T)
c.4413+59C>T (n.4413+59C>T)
c.4485+59C>T (n.4485+59C>T)
 gnomAD v4
3g.38555597G>CCA72942954SCN5Ac.4539+59C>G (n.4539+59C>G)
c.4542+59C>G (n.4542+59C>G)
c.4488+59C>G (n.4488+59C>G)
c.4380+59C>G (n.4380+59C>G)
c.4413+59C>G (n.4413+59C>G)
c.4485+59C>G (n.4485+59C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38555597G=CA1358562705SCN5Ac.4539+59C= (n.4539+59C=)
c.4542+59C= (n.4542+59C=)
c.4488+59C= (n.4488+59C=)
c.4380+59C= (n.4380+59C=)
c.4413+59C= (n.4413+59C=)
c.4485+59C= (n.4485+59C=)
3g.38555597G>TCA2577553305SCN5Ac.4539+59C>A (n.4539+59C>A)
c.4542+59C>A (n.4542+59C>A)
c.4488+59C>A (n.4488+59C>A)
c.4380+59C>A (n.4380+59C>A)
c.4413+59C>A (n.4413+59C>A)
c.4485+59C>A (n.4485+59C>A)
 gnomAD v4
3g.38555598C=CA1358562707SCN5Ac.4539+58G= (n.4539+58G=)
c.4542+58G= (n.4542+58G=)
c.4488+58G= (n.4488+58G=)
c.4380+58G= (n.4380+58G=)
c.4413+58G= (n.4413+58G=)
c.4485+58G= (n.4485+58G=)
3g.38555598C>TCA906912687SCN5Ac.4539+58G>A (n.4539+58G>A)
c.4542+58G>A (n.4542+58G>A)
c.4488+58G>A (n.4488+58G>A)
c.4380+58G>A (n.4380+58G>A)
c.4413+58G>A (n.4413+58G>A)
c.4485+58G>A (n.4485+58G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38555600T>CCA2665110695SCN5Ac.4539+56A>G (n.4539+56A>G)
c.4542+56A>G (n.4542+56A>G)
c.4488+56A>G (n.4488+56A>G)
c.4380+56A>G (n.4380+56A>G)
c.4413+56A>G (n.4413+56A>G)
c.4485+56A>G (n.4485+56A>G)
 gnomAD v4
3g.38555602C>ACA2665110696SCN5Ac.4539+54G>T (n.4539+54G>T)
c.4542+54G>T (n.4542+54G>T)
c.4488+54G>T (n.4488+54G>T)
c.4380+54G>T (n.4380+54G>T)
c.4413+54G>T (n.4413+54G>T)
c.4485+54G>T (n.4485+54G>T)
 gnomAD v4
3g.38555602C>TCA2665110697SCN5Ac.4539+54G>A (n.4539+54G>A)
c.4542+54G>A (n.4542+54G>A)
c.4488+54G>A (n.4488+54G>A)
c.4380+54G>A (n.4380+54G>A)
c.4413+54G>A (n.4413+54G>A)
c.4485+54G>A (n.4485+54G>A)
 gnomAD v4
3g.38555605G>ACA2665110698SCN5Ac.4539+51C>T (n.4539+51C>T)
c.4542+51C>T (n.4542+51C>T)
c.4488+51C>T (n.4488+51C>T)
c.4380+51C>T (n.4380+51C>T)
c.4413+51C>T (n.4413+51C>T)
c.4485+51C>T (n.4485+51C>T)
 gnomAD v4
3g.38555605G>CCA1358562710SCN5Ac.4539+51C>G (n.4539+51C>G)
c.4542+51C>G (n.4542+51C>G)
c.4488+51C>G (n.4488+51C>G)
c.4380+51C>G (n.4380+51C>G)
c.4413+51C>G (n.4413+51C>G)
c.4485+51C>G (n.4485+51C>G)
 dbSNP gnomAD v4
3g.38555605G=CA1358562709SCN5Ac.4539+51C= (n.4539+51C=)
c.4542+51C= (n.4542+51C=)
c.4488+51C= (n.4488+51C=)
c.4380+51C= (n.4380+51C=)
c.4413+51C= (n.4413+51C=)
c.4485+51C= (n.4485+51C=)
3g.38555605G>TCA2665110699SCN5Ac.4539+51C>A (n.4539+51C>A)
c.4542+51C>A (n.4542+51C>A)
c.4488+51C>A (n.4488+51C>A)
c.4380+51C>A (n.4380+51C>A)
c.4413+51C>A (n.4413+51C>A)
c.4485+51C>A (n.4485+51C>A)
 gnomAD v4
3g.38555606G>ACA1358562714SCN5Ac.4539+50C>T (n.4539+50C>T)
c.4542+50C>T (n.4542+50C>T)
c.4488+50C>T (n.4488+50C>T)
c.4380+50C>T (n.4380+50C>T)
c.4413+50C>T (n.4413+50C>T)
c.4485+50C>T (n.4485+50C>T)
 dbSNP
3g.38555606G>CCA2577553306SCN5Ac.4539+50C>G (n.4539+50C>G)
c.4542+50C>G (n.4542+50C>G)
c.4488+50C>G (n.4488+50C>G)
c.4380+50C>G (n.4380+50C>G)
c.4413+50C>G (n.4413+50C>G)
c.4485+50C>G (n.4485+50C>G)
3g.38555606G=CA1358562713SCN5Ac.4539+50C= (n.4539+50C=)
c.4542+50C= (n.4542+50C=)
c.4488+50C= (n.4488+50C=)
c.4380+50C= (n.4380+50C=)
c.4413+50C= (n.4413+50C=)
c.4485+50C= (n.4485+50C=)
3g.38555607G>ACA2665110700SCN5Ac.4539+49C>T (n.4539+49C>T)
c.4542+49C>T (n.4542+49C>T)
c.4488+49C>T (n.4488+49C>T)
c.4380+49C>T (n.4380+49C>T)
c.4413+49C>T (n.4413+49C>T)
c.4485+49C>T (n.4485+49C>T)
 gnomAD v4
3g.38555608A=CA1358562716SCN5Ac.4539+48T= (n.4539+48T=)
c.4542+48T= (n.4542+48T=)
c.4488+48T= (n.4488+48T=)
c.4380+48T= (n.4380+48T=)
c.4413+48T= (n.4413+48T=)
c.4485+48T= (n.4485+48T=)
3g.38555608A>GCA542269993SCN5Ac.4539+48T>C (n.4539+48T>C)
c.4542+48T>C (n.4542+48T>C)
c.4488+48T>C (n.4488+48T>C)
c.4380+48T>C (n.4380+48T>C)
c.4413+48T>C (n.4413+48T>C)
c.4485+48T>C (n.4485+48T>C)
 dbSNP gnomAD v2 gnomAD v4
3g.38555609C>TCA2665110701SCN5Ac.4539+47G>A (n.4539+47G>A)
c.4542+47G>A (n.4542+47G>A)
c.4488+47G>A (n.4488+47G>A)
c.4380+47G>A (n.4380+47G>A)
c.4413+47G>A (n.4413+47G>A)
c.4485+47G>A (n.4485+47G>A)
 gnomAD v4
3g.38555611C>TCA2665110702SCN5Ac.4539+45G>A (n.4539+45G>A)
c.4542+45G>A (n.4542+45G>A)
c.4488+45G>A (n.4488+45G>A)
c.4380+45G>A (n.4380+45G>A)
c.4413+45G>A (n.4413+45G>A)
c.4485+45G>A (n.4485+45G>A)
 gnomAD v4
3g.38555612C>TCA2702487837SCN5Ac.4539+44G>A (n.4539+44G>A)
c.4542+44G>A (n.4542+44G>A)
c.4488+44G>A (n.4488+44G>A)
c.4380+44G>A (n.4380+44G>A)
c.4413+44G>A (n.4413+44G>A)
c.4485+44G>A (n.4485+44G>A)
 dbSNP
3g.38555613A>CCA2665110703SCN5Ac.4539+43T>G (n.4539+43T>G)
c.4542+43T>G (n.4542+43T>G)
c.4488+43T>G (n.4488+43T>G)
c.4380+43T>G (n.4380+43T>G)
c.4413+43T>G (n.4413+43T>G)
c.4485+43T>G (n.4485+43T>G)
 gnomAD v4
3g.38555616A=CA1358562717SCN5Ac.4539+40T= (n.4539+40T=)
c.4542+40T= (n.4542+40T=)
c.4488+40T= (n.4488+40T=)
c.4380+40T= (n.4380+40T=)
c.4413+40T= (n.4413+40T=)
c.4485+40T= (n.4485+40T=)
3g.38555616A>CCA1358562718SCN5Ac.4539+40T>G (n.4539+40T>G)
c.4542+40T>G (n.4542+40T>G)
c.4488+40T>G (n.4488+40T>G)
c.4380+40T>G (n.4380+40T>G)
c.4413+40T>G (n.4413+40T>G)
c.4485+40T>G (n.4485+40T>G)
 dbSNP
3g.38555617G>CCA542269994SCN5Ac.4539+39C>G (n.4539+39C>G)
c.4542+39C>G (n.4542+39C>G)
c.4488+39C>G (n.4488+39C>G)
c.4380+39C>G (n.4380+39C>G)
c.4413+39C>G (n.4413+39C>G)
c.4485+39C>G (n.4485+39C>G)
 dbSNP gnomAD v2 gnomAD v4
3g.38555617G=CA1358562719SCN5Ac.4539+39C= (n.4539+39C=)
c.4542+39C= (n.4542+39C=)
c.4488+39C= (n.4488+39C=)
c.4380+39C= (n.4380+39C=)
c.4413+39C= (n.4413+39C=)
c.4485+39C= (n.4485+39C=)
3g.38555618A=CA1358562721SCN5Ac.4539+38T= (n.4539+38T=)
c.4542+38T= (n.4542+38T=)
c.4488+38T= (n.4488+38T=)
c.4380+38T= (n.4380+38T=)
c.4413+38T= (n.4413+38T=)
c.4485+38T= (n.4485+38T=)
3g.38555618A>GCA063349SCN5Ac.4539+38T>C (n.4539+38T>C)
c.4542+38T>C (n.4542+38T>C)
c.4488+38T>C (n.4488+38T>C)
c.4380+38T>C (n.4380+38T>C)
c.4413+38T>C (n.4413+38T>C)
c.4485+38T>C (n.4485+38T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555621C>ACA1046992502SCN5Ac.4539+35G>T (n.4539+35G>T)
c.4542+35G>T (n.4542+35G>T)
c.4488+35G>T (n.4488+35G>T)
c.4380+35G>T (n.4380+35G>T)
c.4413+35G>T (n.4413+35G>T)
c.4485+35G>T (n.4485+35G>T)
 dbSNP gnomAD v3 gnomAD v4
3g.38555621C=CA1358562723SCN5Ac.4539+35G= (n.4539+35G=)
c.4542+35G= (n.4542+35G=)
c.4488+35G= (n.4488+35G=)
c.4380+35G= (n.4380+35G=)
c.4413+35G= (n.4413+35G=)
c.4485+35G= (n.4485+35G=)
3g.38555621C>TCA2665110704SCN5Ac.4539+35G>A (n.4539+35G>A)
c.4542+35G>A (n.4542+35G>A)
c.4488+35G>A (n.4488+35G>A)
c.4380+35G>A (n.4380+35G>A)
c.4413+35G>A (n.4413+35G>A)
c.4485+35G>A (n.4485+35G>A)
 gnomAD v4
3g.38555626delCA2665110705SCN5Ac.4539+33del (n.4539+33del)
c.4542+33del (n.4542+33del)
c.4488+33del (n.4488+33del)
c.4380+33del (n.4380+33del)
c.4413+33del (n.4413+33del)
c.4485+33del (n.4485+33del)
 gnomAD v4
3g.38555624C>TCA2665110706SCN5Ac.4539+32G>A (n.4539+32G>A)
c.4542+32G>A (n.4542+32G>A)
c.4488+32G>A (n.4488+32G>A)
c.4380+32G>A (n.4380+32G>A)
c.4413+32G>A (n.4413+32G>A)
c.4485+32G>A (n.4485+32G>A)
 gnomAD v4
3g.38555625C>ACA2665110707SCN5Ac.4539+31G>T (n.4539+31G>T)
c.4542+31G>T (n.4542+31G>T)
c.4488+31G>T (n.4488+31G>T)
c.4380+31G>T (n.4380+31G>T)
c.4413+31G>T (n.4413+31G>T)
c.4485+31G>T (n.4485+31G>T)
 gnomAD v4
3g.38555626C>TCA2665110708SCN5Ac.4539+30G>A (n.4539+30G>A)
c.4542+30G>A (n.4542+30G>A)
c.4488+30G>A (n.4488+30G>A)
c.4380+30G>A (n.4380+30G>A)
c.4413+30G>A (n.4413+30G>A)
c.4485+30G>A (n.4485+30G>A)
 gnomAD v4
3g.38555627A=CA1358562725SCN5Ac.4539+29T= (n.4539+29T=)
c.4542+29T= (n.4542+29T=)
c.4488+29T= (n.4488+29T=)
c.4380+29T= (n.4380+29T=)
c.4413+29T= (n.4413+29T=)
c.4485+29T= (n.4485+29T=)
3g.38555627A>CCA1046992504SCN5Ac.4539+29T>G (n.4539+29T>G)
c.4542+29T>G (n.4542+29T>G)
c.4488+29T>G (n.4488+29T>G)
c.4380+29T>G (n.4380+29T>G)
c.4413+29T>G (n.4413+29T>G)
c.4485+29T>G (n.4485+29T>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38555627A>GCA542269995SCN5Ac.4539+29T>C (n.4539+29T>C)
c.4542+29T>C (n.4542+29T>C)
c.4488+29T>C (n.4488+29T>C)
c.4380+29T>C (n.4380+29T>C)
c.4413+29T>C (n.4413+29T>C)
c.4485+29T>C (n.4485+29T>C)
 dbSNP gnomAD v2
3g.38555631C>GCA2755901305SCN5Ac.4539+25G>C (n.4539+25G>C)
c.4542+25G>C (n.4542+25G>C)
c.4488+25G>C (n.4488+25G>C)
c.4380+25G>C (n.4380+25G>C)
c.4413+25G>C (n.4413+25G>C)
c.4485+25G>C (n.4485+25G>C)
3g.38555632C>ACA2553518246SCN5Ac.4539+24G>T (n.4539+24G>T)
c.4542+24G>T (n.4542+24G>T)
c.4488+24G>T (n.4488+24G>T)
c.4380+24G>T (n.4380+24G>T)
c.4413+24G>T (n.4413+24G>T)
c.4485+24G>T (n.4485+24G>T)
3g.38555632C=CA1358562727SCN5Ac.4539+24G= (n.4539+24G=)
c.4542+24G= (n.4542+24G=)
c.4488+24G= (n.4488+24G=)
c.4380+24G= (n.4380+24G=)
c.4413+24G= (n.4413+24G=)
c.4485+24G= (n.4485+24G=)
3g.38555632C>TCA906912690SCN5Ac.4539+24G>A (n.4539+24G>A)
c.4542+24G>A (n.4542+24G>A)
c.4488+24G>A (n.4488+24G>A)
c.4380+24G>A (n.4380+24G>A)
c.4413+24G>A (n.4413+24G>A)
c.4485+24G>A (n.4485+24G>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38555633A=CA1358562729SCN5Ac.4539+23T= (n.4539+23T=)
c.4542+23T= (n.4542+23T=)
c.4488+23T= (n.4488+23T=)
c.4380+23T= (n.4380+23T=)
c.4413+23T= (n.4413+23T=)
c.4485+23T= (n.4485+23T=)
3g.38555633A>GCA063342SCN5Ac.4539+23T>C (n.4539+23T>C)
c.4542+23T>C (n.4542+23T>C)
c.4488+23T>C (n.4488+23T>C)
c.4380+23T>C (n.4380+23T>C)
c.4413+23T>C (n.4413+23T>C)
c.4485+23T>C (n.4485+23T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555634C=CA1358562730SCN5Ac.4539+22G= (n.4539+22G=)
c.4542+22G= (n.4542+22G=)
c.4488+22G= (n.4488+22G=)
c.4380+22G= (n.4380+22G=)
c.4413+22G= (n.4413+22G=)
c.4485+22G= (n.4485+22G=)
3g.38555634C>TCA063338SCN5Ac.4539+22G>A (n.4539+22G>A)
c.4542+22G>A (n.4542+22G>A)
c.4488+22G>A (n.4488+22G>A)
c.4380+22G>A (n.4380+22G>A)
c.4413+22G>A (n.4413+22G>A)
c.4485+22G>A (n.4485+22G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555636A=CA1358562732SCN5Ac.4539+20T= (n.4539+20T=)
c.4542+20T= (n.4542+20T=)
c.4488+20T= (n.4488+20T=)
c.4380+20T= (n.4380+20T=)
c.4413+20T= (n.4413+20T=)
c.4485+20T= (n.4485+20T=)
3g.38555636A>GCA063333SCN5Ac.4539+20T>C (n.4539+20T>C)
c.4542+20T>C (n.4542+20T>C)
c.4488+20T>C (n.4488+20T>C)
c.4380+20T>C (n.4380+20T>C)
c.4413+20T>C (n.4413+20T>C)
c.4485+20T>C (n.4485+20T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555637A>CCA2665110709SCN5Ac.4539+19T>G (n.4539+19T>G)
c.4542+19T>G (n.4542+19T>G)
c.4488+19T>G (n.4488+19T>G)
c.4380+19T>G (n.4380+19T>G)
c.4413+19T>G (n.4413+19T>G)
c.4485+19T>G (n.4485+19T>G)
 gnomAD v4
3g.38555639C>TCA647831724SCN5Ac.4539+17G>A (n.4539+17G>A)
c.4542+17G>A (n.4542+17G>A)
c.4488+17G>A (n.4488+17G>A)
c.4380+17G>A (n.4380+17G>A)
c.4413+17G>A (n.4413+17G>A)
c.4485+17G>A (n.4485+17G>A)
 gnomAD v4 COSMIC
3g.38555640C=CA1358562735SCN5Ac.4539+16G= (n.4539+16G=)
c.4542+16G= (n.4542+16G=)
c.4488+16G= (n.4488+16G=)
c.4380+16G= (n.4380+16G=)
c.4413+16G= (n.4413+16G=)
c.4485+16G= (n.4485+16G=)
3g.38555640C>GCA2501976051SCN5Ac.4539+16G>C (n.4539+16G>C)
c.4542+16G>C (n.4542+16G>C)
c.4488+16G>C (n.4488+16G>C)
c.4380+16G>C (n.4380+16G>C)
c.4413+16G>C (n.4413+16G>C)
c.4485+16G>C (n.4485+16G>C)
 gnomAD v4
3g.38555640C>TCA542269996SCN5Ac.4539+16G>A (n.4539+16G>A)
c.4542+16G>A (n.4542+16G>A)
c.4488+16G>A (n.4488+16G>A)
c.4380+16G>A (n.4380+16G>A)
c.4413+16G>A (n.4413+16G>A)
c.4485+16G>A (n.4485+16G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555641A>GCA2577553307SCN5Ac.4539+15T>C (n.4539+15T>C)
c.4542+15T>C (n.4542+15T>C)
c.4488+15T>C (n.4488+15T>C)
c.4380+15T>C (n.4380+15T>C)
c.4413+15T>C (n.4413+15T>C)
c.4485+15T>C (n.4485+15T>C)
 gnomAD v4
3g.38555642G>ACA2665110710SCN5Ac.4539+14C>T (n.4539+14C>T)
c.4542+14C>T (n.4542+14C>T)
c.4488+14C>T (n.4488+14C>T)
c.4380+14C>T (n.4380+14C>T)
c.4413+14C>T (n.4413+14C>T)
c.4485+14C>T (n.4485+14C>T)
 gnomAD v4
3g.38555643G>CCA2665110711SCN5Ac.4539+13C>G (n.4539+13C>G)
c.4542+13C>G (n.4542+13C>G)
c.4488+13C>G (n.4488+13C>G)
c.4380+13C>G (n.4380+13C>G)
c.4413+13C>G (n.4413+13C>G)
c.4485+13C>G (n.4485+13C>G)
 gnomAD v4
3g.38555643G=CA1358562737SCN5Ac.4539+13C= (n.4539+13C=)
c.4542+13C= (n.4542+13C=)
c.4488+13C= (n.4488+13C=)
c.4380+13C= (n.4380+13C=)
c.4413+13C= (n.4413+13C=)
c.4485+13C= (n.4485+13C=)
3g.38555643G>TCA542269997SCN5Ac.4539+13C>A (n.4539+13C>A)
c.4542+13C>A (n.4542+13C>A)
c.4488+13C>A (n.4488+13C>A)
c.4380+13C>A (n.4380+13C>A)
c.4413+13C>A (n.4413+13C>A)
c.4485+13C>A (n.4485+13C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38555644A>GCA647831726SCN5Ac.4539+12T>C (n.4539+12T>C)
c.4542+12T>C (n.4542+12T>C)
c.4488+12T>C (n.4488+12T>C)
c.4380+12T>C (n.4380+12T>C)
c.4413+12T>C (n.4413+12T>C)
c.4485+12T>C (n.4485+12T>C)
 COSMIC
3g.38555645G>ACA2665110712SCN5Ac.4539+11C>T (n.4539+11C>T)
c.4542+11C>T (n.4542+11C>T)
c.4488+11C>T (n.4488+11C>T)
c.4380+11C>T (n.4380+11C>T)
c.4413+11C>T (n.4413+11C>T)
c.4485+11C>T (n.4485+11C>T)
 gnomAD v4
3g.38555646C=CA1358562739SCN5Ac.4539+10G= (n.4539+10G=)
c.4542+10G= (n.4542+10G=)
c.4488+10G= (n.4488+10G=)
c.4380+10G= (n.4380+10G=)
c.4413+10G= (n.4413+10G=)
c.4485+10G= (n.4485+10G=)
3g.38555646C>TCA72942964SCN5Ac.4539+10G>A (n.4539+10G>A)
c.4542+10G>A (n.4542+10G>A)
c.4488+10G>A (n.4488+10G>A)
c.4380+10G>A (n.4380+10G>A)
c.4413+10G>A (n.4413+10G>A)
c.4485+10G>A (n.4485+10G>A)
 dbSNP
3g.38555647C>ACA1358562743SCN5Ac.4539+9G>T (n.4539+9G>T)
c.4542+9G>T (n.4542+9G>T)
c.4488+9G>T (n.4488+9G>T)
c.4380+9G>T (n.4380+9G>T)
c.4413+9G>T (n.4413+9G>T)
c.4485+9G>T (n.4485+9G>T)
 dbSNP
3g.38555647C=CA1358562741SCN5Ac.4539+9G= (n.4539+9G=)
c.4542+9G= (n.4542+9G=)
c.4488+9G= (n.4488+9G=)
c.4380+9G= (n.4380+9G=)
c.4413+9G= (n.4413+9G=)
c.4485+9G= (n.4485+9G=)
3g.38555647C>TCA2739278196SCN5Ac.4539+9G>A (n.4539+9G>A)
c.4542+9G>A (n.4542+9G>A)
c.4488+9G>A (n.4488+9G>A)
c.4380+9G>A (n.4380+9G>A)
c.4413+9G>A (n.4413+9G>A)
c.4485+9G>A (n.4485+9G>A)
 ClinVar
3g.38555648T>CCA2573136300SCN5Ac.4539+8A>G (n.4539+8A>G)
c.4542+8A>G (n.4542+8A>G)
c.4488+8A>G (n.4488+8A>G)
c.4380+8A>G (n.4380+8A>G)
c.4413+8A>G (n.4413+8A>G)
c.4485+8A>G (n.4485+8A>G)
 ClinVar dbSNP
3g.38555650G>ACA2665110713SCN5Ac.4539+6C>T (n.4539+6C>T)
c.4542+6C>T (n.4542+6C>T)
c.4488+6C>T (n.4488+6C>T)
c.4380+6C>T (n.4380+6C>T)
c.4413+6C>T (n.4413+6C>T)
c.4485+6C>T (n.4485+6C>T)
 gnomAD v4
3g.38555650G>CCA1139657971SCN5Ac.4539+6C>G (n.4539+6C>G)
c.4542+6C>G (n.4542+6C>G)
c.4488+6C>G (n.4488+6C>G)
c.4380+6C>G (n.4380+6C>G)
c.4413+6C>G (n.4413+6C>G)
c.4485+6C>G (n.4485+6C>G)
 ClinVar dbSNP gnomAD v4
3g.38555650G=CA1358562747SCN5Ac.4539+6C= (n.4539+6C=)
c.4542+6C= (n.4542+6C=)
c.4488+6C= (n.4488+6C=)
c.4380+6C= (n.4380+6C=)
c.4413+6C= (n.4413+6C=)
c.4485+6C= (n.4485+6C=)
3g.38555652T>CCA542269998SCN5Ac.4539+4A>G (n.4539+4A>G)
c.4542+4A>G (n.4542+4A>G)
c.4488+4A>G (n.4488+4A>G)
c.4380+4A>G (n.4380+4A>G)
c.4413+4A>G (n.4413+4A>G)
c.4485+4A>G (n.4485+4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555652T=CA1358562750SCN5Ac.4539+4A= (n.4539+4A=)
c.4542+4A= (n.4542+4A=)
c.4488+4A= (n.4488+4A=)
c.4380+4A= (n.4380+4A=)
c.4413+4A= (n.4413+4A=)
c.4485+4A= (n.4485+4A=)
3g.38555653C>ACA2665110714SCN5Ac.4539+3G>T (n.4539+3G>T)
c.4542+3G>T (n.4542+3G>T)
c.4488+3G>T (n.4488+3G>T)
c.4380+3G>T (n.4380+3G>T)
c.4413+3G>T (n.4413+3G>T)
c.4485+3G>T (n.4485+3G>T)
 gnomAD v4
3g.38555654A>CCA352144179SCN5Ac.4539+2T>G (n.4539+2T>G)
c.4542+2T>G (n.4542+2T>G)
c.4488+2T>G (n.4488+2T>G)
c.4380+2T>G (n.4380+2T>G)
c.4413+2T>G (n.4413+2T>G)
c.4485+2T>G (n.4485+2T>G)
3g.38555654A>GCA352144178SCN5Ac.4539+2T>C (n.4539+2T>C)
c.4542+2T>C (n.4542+2T>C)
c.4488+2T>C (n.4488+2T>C)
c.4380+2T>C (n.4380+2T>C)
c.4413+2T>C (n.4413+2T>C)
c.4485+2T>C (n.4485+2T>C)
3g.38555654A>TCA352144177SCN5Ac.4539+2T>A (n.4539+2T>A)
c.4542+2T>A (n.4542+2T>A)
c.4488+2T>A (n.4488+2T>A)
c.4380+2T>A (n.4380+2T>A)
c.4413+2T>A (n.4413+2T>A)
c.4485+2T>A (n.4485+2T>A)
3g.38555655C>ACA352144180SCN5Ac.4539+1G>T (n.4539+1G>T)
c.4542+1G>T (n.4542+1G>T)
c.4488+1G>T (n.4488+1G>T)
c.4380+1G>T (n.4380+1G>T)
c.4413+1G>T (n.4413+1G>T)
c.4485+1G>T (n.4485+1G>T)
3g.38555655C=CA1358562753SCN5Ac.4539+1G= (n.4539+1G=)
c.4542+1G= (n.4542+1G=)
c.4488+1G= (n.4488+1G=)
c.4380+1G= (n.4380+1G=)
c.4413+1G= (n.4413+1G=)
c.4485+1G= (n.4485+1G=)
3g.38555655C>GCA352144182SCN5Ac.4539+1G>C (n.4539+1G>C)
c.4542+1G>C (n.4542+1G>C)
c.4488+1G>C (n.4488+1G>C)
c.4380+1G>C (n.4380+1G>C)
c.4413+1G>C (n.4413+1G>C)
c.4485+1G>C (n.4485+1G>C)
3g.38555655C>TCA352144181SCN5Ac.4539+1G>A (n.4539+1G>A)
c.4542+1G>A (n.4542+1G>A)
c.4488+1G>A (n.4488+1G>A)
c.4380+1G>A (n.4380+1G>A)
c.4413+1G>A (n.4413+1G>A)
c.4485+1G>A (n.4485+1G>A)
 dbSNP
3g.38555656C>ACA433135577SCN5Ac.4539G>T (p.Leu1513=)
c.4542G>T (p.Leu1514=)
c.4488G>T (p.Leu1496=)
c.4380G>T (p.Leu1460=)
c.4413G>T (p.Leu1471=)
c.4485G>T (p.Leu1495=)
3g.38555656C=CA1358562755SCN5Ac.4539G= (p.Leu1513=)
c.4542G= (p.Leu1514=)
c.4488G= (p.Leu1496=)
c.4380G= (p.Leu1460=)
c.4413G= (p.Leu1471=)
c.4485G= (p.Leu1495=)
3g.38555656C>GCA063354SCN5Ac.4539G>C (p.Leu1513=)
c.4542G>C (p.Leu1514=)
c.4488G>C (p.Leu1496=)
c.4380G>C (p.Leu1460=)
c.4413G>C (p.Leu1471=)
c.4485G>C (p.Leu1495=)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555656C>TCA433135580SCN5Ac.4539G>A (p.Leu1513=)
c.4542G>A (p.Leu1514=)
c.4488G>A (p.Leu1496=)
c.4380G>A (p.Leu1460=)
c.4413G>A (p.Leu1471=)
c.4485G>A (p.Leu1495=)
3g.38555657A>CCA352144183SCN5Ac.4538T>G (p.Leu1513Arg)
c.4541T>G (p.Leu1514Arg)
c.4487T>G (p.Leu1496Arg)
c.4379T>G (p.Leu1460Arg)
c.4412T>G (p.Leu1471Arg)
c.4484T>G (p.Leu1495Arg)
3g.38555657A>GCA352144184SCN5Ac.4538T>C (p.Leu1513Pro)
c.4541T>C (p.Leu1514Pro)
c.4487T>C (p.Leu1496Pro)
c.4379T>C (p.Leu1460Pro)
c.4412T>C (p.Leu1471Pro)
c.4484T>C (p.Leu1495Pro)
3g.38555657A>TCA352144185SCN5Ac.4538T>A (p.Leu1513Gln)
c.4541T>A (p.Leu1514Gln)
c.4487T>A (p.Leu1496Gln)
c.4379T>A (p.Leu1460Gln)
c.4412T>A (p.Leu1471Gln)
c.4484T>A (p.Leu1495Gln)
3g.38555657dupCA2580069805SCN5Ac.4538dup (p.Asn1514GlufsTer17)
c.4541dup (p.Asn1515GlufsTer17)
c.4487dup (p.Asn1497GlufsTer17)
c.4379dup (p.Asn1461GlufsTer17)
c.4412dup (p.Asn1472GlufsTer17)
c.4484dup (p.Asn1496GlufsTer17)
 ClinVar
3g.38555658G>ACA433135583SCN5Ac.4537C>T (p.Leu1513=)
c.4540C>T (p.Leu1514=)
c.4486C>T (p.Leu1496=)
c.4378C>T (p.Leu1460=)
c.4411C>T (p.Leu1471=)
c.4483C>T (p.Leu1495=)
3g.38555658G>CCA352144186SCN5Ac.4537C>G (p.Leu1513Val)
c.4540C>G (p.Leu1514Val)
c.4486C>G (p.Leu1496Val)
c.4378C>G (p.Leu1460Val)
c.4411C>G (p.Leu1471Val)
c.4483C>G (p.Leu1495Val)
3g.38555658G=CA1358562758SCN5Ac.4537C= (p.Leu1513=)
c.4540C= (p.Leu1514=)
c.4486C= (p.Leu1496=)
c.4378C= (p.Leu1460=)
c.4411C= (p.Leu1471=)
c.4483C= (p.Leu1495=)
3g.38555658G>TCA352144187SCN5Ac.4537C>A (p.Leu1513Met)
c.4540C>A (p.Leu1514Met)
c.4486C>A (p.Leu1496Met)
c.4378C>A (p.Leu1460Met)
c.4411C>A (p.Leu1471Met)
c.4483C>A (p.Leu1495Met)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555661dupCA2739278197SCN5Ac.4537dup (p.Leu1513ProfsTer18)
c.4540dup (p.Leu1514ProfsTer18)
c.4486dup (p.Leu1496ProfsTer18)
c.4378dup (p.Leu1460ProfsTer18)
c.4411dup (p.Leu1471ProfsTer18)
c.4483dup (p.Leu1495ProfsTer18)
 ClinVar
3g.38555659G>ACA433135593SCN5Ac.4536C>T (p.Pro1512=)
c.4539C>T (p.Pro1513=)
c.4485C>T (p.Pro1495=)
c.4377C>T (p.Pro1459=)
c.4410C>T (p.Pro1470=)
c.4482C>T (p.Pro1494=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555659G>CCA433135595SCN5Ac.4536C>G (p.Pro1512=)
c.4539C>G (p.Pro1513=)
c.4485C>G (p.Pro1495=)
c.4377C>G (p.Pro1459=)
c.4410C>G (p.Pro1470=)
c.4482C>G (p.Pro1494=)
3g.38555659G>TCA433135596SCN5Ac.4536C>A (p.Pro1512=)
c.4539C>A (p.Pro1513=)
c.4485C>A (p.Pro1495=)
c.4377C>A (p.Pro1459=)
c.4410C>A (p.Pro1470=)
c.4482C>A (p.Pro1494=)
3g.38555660G>ACA352144188SCN5Ac.4535C>T (p.Pro1512Leu)
c.4538C>T (p.Pro1513Leu)
c.4484C>T (p.Pro1495Leu)
c.4376C>T (p.Pro1459Leu)
c.4409C>T (p.Pro1470Leu)
c.4481C>T (p.Pro1494Leu)
 gnomAD v4
3g.38555660G>CCA352144189SCN5Ac.4535C>G (p.Pro1512Arg)
c.4538C>G (p.Pro1513Arg)
c.4484C>G (p.Pro1495Arg)
c.4376C>G (p.Pro1459Arg)
c.4409C>G (p.Pro1470Arg)
c.4481C>G (p.Pro1494Arg)
3g.38555660G>TCA352144190SCN5Ac.4535C>A (p.Pro1512His)
c.4538C>A (p.Pro1513His)
c.4484C>A (p.Pro1495His)
c.4376C>A (p.Pro1459His)
c.4409C>A (p.Pro1470His)
c.4481C>A (p.Pro1494His)
3g.38555661G>ACA352144191SCN5Ac.4534C>T (p.Pro1512Ser)
c.4537C>T (p.Pro1513Ser)
c.4483C>T (p.Pro1495Ser)
c.4375C>T (p.Pro1459Ser)
c.4408C>T (p.Pro1470Ser)
c.4480C>T (p.Pro1494Ser)
 ClinVar gnomAD v4
3g.38555661G>CCA352144192SCN5Ac.4534C>G (p.Pro1512Ala)
c.4537C>G (p.Pro1513Ala)
c.4483C>G (p.Pro1495Ala)
c.4375C>G (p.Pro1459Ala)
c.4408C>G (p.Pro1470Ala)
c.4480C>G (p.Pro1494Ala)
3g.38555661G>TCA352144193SCN5Ac.4534C>A (p.Pro1512Thr)
c.4537C>A (p.Pro1513Thr)
c.4483C>A (p.Pro1495Thr)
c.4375C>A (p.Pro1459Thr)
c.4408C>A (p.Pro1470Thr)
c.4480C>A (p.Pro1494Thr)
3g.38555662C>ACA433135603SCN5Ac.4533G>T (p.Arg1511=)
c.4536G>T (p.Arg1512=)
c.4482G>T (p.Arg1494=)
c.4374G>T (p.Arg1458=)
c.4407G>T (p.Arg1469=)
c.4479G>T (p.Arg1493=)
3g.38555662C=CA1358562763SCN5Ac.4533G= (p.Arg1511=)
c.4536G= (p.Arg1512=)
c.4482G= (p.Arg1494=)
c.4374G= (p.Arg1458=)
c.4407G= (p.Arg1469=)
c.4479G= (p.Arg1493=)
3g.38555662C>GCA433135605SCN5Ac.4533G>C (p.Arg1511=)
c.4536G>C (p.Arg1512=)
c.4482G>C (p.Arg1494=)
c.4374G>C (p.Arg1458=)
c.4407G>C (p.Arg1469=)
c.4479G>C (p.Arg1493=)
3g.38555662C>TCA063321SCN5Ac.4533G>A (p.Arg1511=)
c.4536G>A (p.Arg1512=)
c.4482G>A (p.Arg1494=)
c.4374G>A (p.Arg1458=)
c.4407G>A (p.Arg1469=)
c.4479G>A (p.Arg1493=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555663C>ACA063314SCN5Ac.4532G>T (p.Arg1511Leu)
c.4535G>T (p.Arg1512Leu)
c.4481G>T (p.Arg1494Leu)
c.4373G>T (p.Arg1458Leu)
c.4406G>T (p.Arg1469Leu)
c.4478G>T (p.Arg1493Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
3g.38555663C=CA1358562769SCN5Ac.4532G= (p.Arg1511=)
c.4535G= (p.Arg1512=)
c.4481G= (p.Arg1494=)
c.4373G= (p.Arg1458=)
c.4406G= (p.Arg1469=)
c.4478G= (p.Arg1493=)
3g.38555663C>GCA352144194SCN5Ac.4532G>C (p.Arg1511Pro)
c.4535G>C (p.Arg1512Pro)
c.4481G>C (p.Arg1494Pro)
c.4373G>C (p.Arg1458Pro)
c.4406G>C (p.Arg1469Pro)
c.4478G>C (p.Arg1493Pro)
 ClinVar
3g.38555663C>TCA063309SCN5Ac.4532G>A (p.Arg1511Gln)
c.4535G>A (p.Arg1512Gln)
c.4481G>A (p.Arg1494Gln)
c.4373G>A (p.Arg1458Gln)
c.4406G>A (p.Arg1469Gln)
c.4478G>A (p.Arg1493Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555664G>ACA018413SCN5Ac.4531C>T (p.Arg1511Trp)
c.4534C>T (p.Arg1512Trp)
c.4480C>T (p.Arg1494Trp)
c.4372C>T (p.Arg1458Trp)
c.4405C>T (p.Arg1469Trp)
c.4477C>T (p.Arg1493Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38555664G>CCA352144195SCN5Ac.4531C>G (p.Arg1511Gly)
c.4534C>G (p.Arg1512Gly)
c.4480C>G (p.Arg1494Gly)
c.4372C>G (p.Arg1458Gly)
c.4405C>G (p.Arg1469Gly)
c.4477C>G (p.Arg1493Gly)
3g.38555664G=CA1358562782SCN5Ac.4531C= (p.Arg1511=)
c.4534C= (p.Arg1512=)
c.4480C= (p.Arg1494=)
c.4372C= (p.Arg1458=)
c.4405C= (p.Arg1469=)
c.4477C= (p.Arg1493=)
3g.38555664G>TCA433135612SCN5Ac.4531C>A (p.Arg1511=)
c.4534C>A (p.Arg1512=)
c.4480C>A (p.Arg1494=)
c.4372C>A (p.Arg1458=)
c.4405C>A (p.Arg1469=)
c.4477C>A (p.Arg1493=)
3g.38555665T>ACA433135614SCN5Ac.4530A>T (p.Pro1510=)
c.4533A>T (p.Pro1511=)
c.4479A>T (p.Pro1493=)
c.4371A>T (p.Pro1457=)
c.4404A>T (p.Pro1468=)
c.4476A>T (p.Pro1492=)
 gnomAD v4
3g.38555665T>CCA433135616SCN5Ac.4530A>G (p.Pro1510=)
c.4533A>G (p.Pro1511=)
c.4479A>G (p.Pro1493=)
c.4371A>G (p.Pro1457=)
c.4404A>G (p.Pro1468=)
c.4476A>G (p.Pro1492=)
3g.38555665T>GCA433135617SCN5Ac.4530A>C (p.Pro1510=)
c.4533A>C (p.Pro1511=)
c.4479A>C (p.Pro1493=)
c.4371A>C (p.Pro1457=)
c.4404A>C (p.Pro1468=)
c.4476A>C (p.Pro1492=)
3g.38555665T=CA1358562785SCN5Ac.4530A= (p.Pro1510=)
c.4533A= (p.Pro1511=)
c.4479A= (p.Pro1493=)
c.4371A= (p.Pro1457=)
c.4404A= (p.Pro1468=)
c.4476A= (p.Pro1492=)
3g.38555666G>ACA352144196SCN5Ac.4529C>T (p.Pro1510Leu)
c.4532C>T (p.Pro1511Leu)
c.4478C>T (p.Pro1493Leu)
c.4370C>T (p.Pro1457Leu)
c.4403C>T (p.Pro1468Leu)
c.4475C>T (p.Pro1492Leu)
 gnomAD v4
3g.38555666G>CCA352144197SCN5Ac.4529C>G (p.Pro1510Arg)
c.4532C>G (p.Pro1511Arg)
c.4478C>G (p.Pro1493Arg)
c.4370C>G (p.Pro1457Arg)
c.4403C>G (p.Pro1468Arg)
c.4475C>G (p.Pro1492Arg)
3g.38555666G>TCA352144198SCN5Ac.4529C>A (p.Pro1510Gln)
c.4532C>A (p.Pro1511Gln)
c.4478C>A (p.Pro1493Gln)
c.4370C>A (p.Pro1457Gln)
c.4403C>A (p.Pro1468Gln)
c.4475C>A (p.Pro1492Gln)
3g.38555666_38555668dupCA891842596SCN5Ac.4527_4529dup (p.Pro1510_Arg1511insPro)
c.4530_4532dup (p.Pro1511_Arg1512insPro)
c.4476_4478dup (p.Pro1493_Arg1494insPro)
c.4368_4370dup (p.Pro1457_Arg1458insPro)
c.4401_4403dup (p.Pro1468_Arg1469insPro)
c.4473_4475dup (p.Pro1492_Arg1493insPro)
 ClinVar dbSNP
3g.38555667G>ACA352144199SCN5Ac.4528C>T (p.Pro1510Ser)
c.4531C>T (p.Pro1511Ser)
c.4477C>T (p.Pro1493Ser)
c.4369C>T (p.Pro1457Ser)
c.4402C>T (p.Pro1468Ser)
c.4474C>T (p.Pro1492Ser)
 gnomAD v4
3g.38555667G>CCA352144200SCN5Ac.4528C>G (p.Pro1510Ala)
c.4531C>G (p.Pro1511Ala)
c.4477C>G (p.Pro1493Ala)
c.4369C>G (p.Pro1457Ala)
c.4402C>G (p.Pro1468Ala)
c.4474C>G (p.Pro1492Ala)
3g.38555667G>TCA352144201SCN5Ac.4528C>A (p.Pro1510Thr)
c.4531C>A (p.Pro1511Thr)
c.4477C>A (p.Pro1493Thr)
c.4369C>A (p.Pro1457Thr)
c.4402C>A (p.Pro1468Thr)
c.4474C>A (p.Pro1492Thr)
3g.38555668G>ACA72942992SCN5Ac.4527C>T (p.Ile1509=)
c.4530C>T (p.Ile1510=)
c.4476C>T (p.Ile1492=)
c.4368C>T (p.Ile1456=)
c.4401C>T (p.Ile1467=)
c.4473C>T (p.Ile1491=)
 dbSNP gnomAD v4
3g.38555668G>CCA352144202SCN5Ac.4527C>G (p.Ile1509Met)
c.4530C>G (p.Ile1510Met)
c.4476C>G (p.Ile1492Met)
c.4368C>G (p.Ile1456Met)
c.4401C>G (p.Ile1467Met)
c.4473C>G (p.Ile1491Met)
3g.38555668G=CA1358562790SCN5Ac.4527C= (p.Ile1509=)
c.4530C= (p.Ile1510=)
c.4476C= (p.Ile1492=)
c.4368C= (p.Ile1456=)
c.4401C= (p.Ile1467=)
c.4473C= (p.Ile1491=)
3g.38555668G>TCA433135627SCN5Ac.4527C>A (p.Ile1509=)
c.4530C>A (p.Ile1510=)
c.4476C>A (p.Ile1492=)
c.4368C>A (p.Ile1456=)
c.4401C>A (p.Ile1467=)
c.4473C>A (p.Ile1491=)
3g.38555669A>CCA352144205SCN5Ac.4526T>G (p.Ile1509Ser)
c.4529T>G (p.Ile1510Ser)
c.4475T>G (p.Ile1492Ser)
c.4367T>G (p.Ile1456Ser)
c.4400T>G (p.Ile1467Ser)
c.4472T>G (p.Ile1491Ser)
3g.38555669A>GCA352144204SCN5Ac.4526T>C (p.Ile1509Thr)
c.4529T>C (p.Ile1510Thr)
c.4475T>C (p.Ile1492Thr)
c.4367T>C (p.Ile1456Thr)
c.4400T>C (p.Ile1467Thr)
c.4472T>C (p.Ile1491Thr)
3g.38555669A>TCA352144203SCN5Ac.4526T>A (p.Ile1509Asn)
c.4529T>A (p.Ile1510Asn)
c.4475T>A (p.Ile1492Asn)
c.4367T>A (p.Ile1456Asn)
c.4400T>A (p.Ile1467Asn)
c.4472T>A (p.Ile1491Asn)
3g.38555670T>ACA352144206SCN5Ac.4525A>T (p.Ile1509Phe)
c.4528A>T (p.Ile1510Phe)
c.4474A>T (p.Ile1492Phe)
c.4366A>T (p.Ile1456Phe)
c.4399A>T (p.Ile1467Phe)
c.4471A>T (p.Ile1491Phe)
3g.38555670T>CCA352144207SCN5Ac.4525A>G (p.Ile1509Val)
c.4528A>G (p.Ile1510Val)
c.4474A>G (p.Ile1492Val)
c.4366A>G (p.Ile1456Val)
c.4399A>G (p.Ile1467Val)
c.4471A>G (p.Ile1491Val)
3g.38555670T>GCA352144208SCN5Ac.4525A>C (p.Ile1509Leu)
c.4528A>C (p.Ile1510Leu)
c.4474A>C (p.Ile1492Leu)
c.4366A>C (p.Ile1456Leu)
c.4399A>C (p.Ile1467Leu)
c.4471A>C (p.Ile1491Leu)
 ClinVar dbSNP gnomAD v4
3g.38555670_38555679delinsTGGGCTTCTGCA1358562792SCN5Ac.4516_4525delinsCAGAAGCCCA (p.Gln1506=)
c.4519_4528delinsCAGAAGCCCA (p.Gln1507=)
c.4465_4474delinsCAGAAGCCCA (p.Gln1489=)
c.4357_4366delinsCAGAAGCCCA (p.Gln1453=)
c.4390_4399delinsCAGAAGCCCA (p.Gln1464=)
c.4462_4471delinsCAGAAGCCCA (p.Gln1488=)
3g.38555671G>ACA063299SCN5Ac.4524C>T (p.Pro1508=)
c.4527C>T (p.Pro1509=)
c.4473C>T (p.Pro1491=)
c.4365C>T (p.Pro1455=)
c.4398C>T (p.Pro1466=)
c.4470C>T (p.Pro1490=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555671G>CCA433135634SCN5Ac.4524C>G (p.Pro1508=)
c.4527C>G (p.Pro1509=)
c.4473C>G (p.Pro1491=)
c.4365C>G (p.Pro1455=)
c.4398C>G (p.Pro1466=)
c.4470C>G (p.Pro1490=)
3g.38555671G=CA1358562799SCN5Ac.4524C= (p.Pro1508=)
c.4527C= (p.Pro1509=)
c.4473C= (p.Pro1491=)
c.4365C= (p.Pro1455=)
c.4398C= (p.Pro1466=)
c.4470C= (p.Pro1490=)
3g.38555671G>TCA433135635SCN5Ac.4524C>A (p.Pro1508=)
c.4527C>A (p.Pro1509=)
c.4473C>A (p.Pro1491=)
c.4365C>A (p.Pro1455=)
c.4398C>A (p.Pro1466=)
c.4470C>A (p.Pro1490=)
3g.38555679_38555687dupCA2586965705SCN5Ac.4516_4524dup (p.Pro1508_Ile1509insGlnLysPro)
c.4519_4527dup (p.Pro1509_Ile1510insGlnLysPro)
c.4465_4473dup (p.Pro1491_Ile1492insGlnLysPro)
c.4357_4365dup (p.Pro1455_Ile1456insGlnLysPro)
c.4390_4398dup (p.Pro1466_Ile1467insGlnLysPro)
c.4462_4470dup (p.Pro1490_Ile1491insGlnLysPro)
 ClinVar
3g.38555679_38555687delCA018388SCN5Ac.4516_4524del (p.Gln1506_Pro1508del)
c.4519_4527del (p.Gln1507_Pro1509del)
c.4465_4473del (p.Gln1489_Pro1491del)
c.4357_4365del (p.Gln1453_Pro1455del)
c.4390_4398del (p.Gln1464_Pro1466del)
c.4462_4470del (p.Gln1488_Pro1490del)
 ClinVar dbSNP
3g.38555672G>ACA352144209SCN5Ac.4523C>T (p.Pro1508Leu)
c.4526C>T (p.Pro1509Leu)
c.4472C>T (p.Pro1491Leu)
c.4364C>T (p.Pro1455Leu)
c.4397C>T (p.Pro1466Leu)
c.4469C>T (p.Pro1490Leu)
3g.38555672G>CCA352144210SCN5Ac.4523C>G (p.Pro1508Arg)
c.4526C>G (p.Pro1509Arg)
c.4472C>G (p.Pro1491Arg)
c.4364C>G (p.Pro1455Arg)
c.4397C>G (p.Pro1466Arg)
c.4469C>G (p.Pro1490Arg)
3g.38555672G>TCA352144211SCN5Ac.4523C>A (p.Pro1508His)
c.4526C>A (p.Pro1509His)
c.4472C>A (p.Pro1491His)
c.4364C>A (p.Pro1455His)
c.4397C>A (p.Pro1466His)
c.4469C>A (p.Pro1490His)
3g.38555673G>ACA352144212SCN5Ac.4522C>T (p.Pro1508Ser)
c.4525C>T (p.Pro1509Ser)
c.4471C>T (p.Pro1491Ser)
c.4363C>T (p.Pro1455Ser)
c.4396C>T (p.Pro1466Ser)
c.4468C>T (p.Pro1490Ser)
 ClinVar dbSNP
3g.38555673G>CCA352144213SCN5Ac.4522C>G (p.Pro1508Ala)
c.4525C>G (p.Pro1509Ala)
c.4471C>G (p.Pro1491Ala)
c.4363C>G (p.Pro1455Ala)
c.4396C>G (p.Pro1466Ala)
c.4468C>G (p.Pro1490Ala)
3g.38555673G=CA1358562804SCN5Ac.4522C= (p.Pro1508=)
c.4525C= (p.Pro1509=)
c.4471C= (p.Pro1491=)
c.4363C= (p.Pro1455=)
c.4396C= (p.Pro1466=)
c.4468C= (p.Pro1490=)
3g.38555673G>TCA063293SCN5Ac.4522C>A (p.Pro1508Thr)
c.4525C>A (p.Pro1509Thr)
c.4471C>A (p.Pro1491Thr)
c.4363C>A (p.Pro1455Thr)
c.4396C>A (p.Pro1466Thr)
c.4468C>A (p.Pro1490Thr)
 dbSNP ExAC gnomAD v2
3g.38555674C>ACA352144214SCN5Ac.4521G>T (p.Lys1507Asn)
c.4524G>T (p.Lys1508Asn)
c.4470G>T (p.Lys1490Asn)
c.4362G>T (p.Lys1454Asn)
c.4395G>T (p.Lys1465Asn)
c.4467G>T (p.Lys1489Asn)
3g.38555674C>GCA352144215SCN5Ac.4521G>C (p.Lys1507Asn)
c.4524G>C (p.Lys1508Asn)
c.4470G>C (p.Lys1490Asn)
c.4362G>C (p.Lys1454Asn)
c.4395G>C (p.Lys1465Asn)
c.4467G>C (p.Lys1489Asn)
3g.38555674C>TCA433135645SCN5Ac.4521G>A (p.Lys1507=)
c.4524G>A (p.Lys1508=)
c.4470G>A (p.Lys1490=)
c.4362G>A (p.Lys1454=)
c.4395G>A (p.Lys1465=)
c.4467G>A (p.Lys1489=)
3g.38555675T>ACA352144218SCN5Ac.4520A>T (p.Lys1507Met)
c.4523A>T (p.Lys1508Met)
c.4469A>T (p.Lys1490Met)
c.4361A>T (p.Lys1454Met)
c.4394A>T (p.Lys1465Met)
c.4466A>T (p.Lys1489Met)
3g.38555675T>CCA352144216SCN5Ac.4520A>G (p.Lys1507Arg)
c.4523A>G (p.Lys1508Arg)
c.4469A>G (p.Lys1490Arg)
c.4361A>G (p.Lys1454Arg)
c.4394A>G (p.Lys1465Arg)
c.4466A>G (p.Lys1489Arg)
 ClinVar dbSNP
3g.38555675T>GCA352144217SCN5Ac.4520A>C (p.Lys1507Thr)
c.4523A>C (p.Lys1508Thr)
c.4469A>C (p.Lys1490Thr)
c.4361A>C (p.Lys1454Thr)
c.4394A>C (p.Lys1465Thr)
c.4466A>C (p.Lys1489Thr)
3g.38555676T>ACA352144219SCN5Ac.4519A>T (p.Lys1507Ter)
c.4522A>T (p.Lys1508Ter)
c.4468A>T (p.Lys1490Ter)
c.4360A>T (p.Lys1454Ter)
c.4393A>T (p.Lys1465Ter)
c.4465A>T (p.Lys1489Ter)
 dbSNP
3g.38555676T>CCA352144220SCN5Ac.4519A>G (p.Lys1507Glu)
c.4522A>G (p.Lys1508Glu)
c.4468A>G (p.Lys1490Glu)
c.4360A>G (p.Lys1454Glu)
c.4393A>G (p.Lys1465Glu)
c.4465A>G (p.Lys1489Glu)
 gnomAD v4
3g.38555676T>GCA352144221SCN5Ac.4519A>C (p.Lys1507Gln)
c.4522A>C (p.Lys1508Gln)
c.4468A>C (p.Lys1490Gln)
c.4360A>C (p.Lys1454Gln)
c.4393A>C (p.Lys1465Gln)
c.4465A>C (p.Lys1489Gln)
3g.38555676T=CA1358562810SCN5Ac.4519A= (p.Lys1507=)
c.4522A= (p.Lys1508=)
c.4468A= (p.Lys1490=)
c.4360A= (p.Lys1454=)
c.4393A= (p.Lys1465=)
c.4465A= (p.Lys1489=)
3g.38555677C>ACA352144222SCN5Ac.4518G>T (p.Gln1506His)
c.4521G>T (p.Gln1507His)
c.4467G>T (p.Gln1489His)
c.4359G>T (p.Gln1453His)
c.4392G>T (p.Gln1464His)
c.4464G>T (p.Gln1488His)
3g.38555677C>GCA352144223SCN5Ac.4518G>C (p.Gln1506His)
c.4521G>C (p.Gln1507His)
c.4467G>C (p.Gln1489His)
c.4359G>C (p.Gln1453His)
c.4392G>C (p.Gln1464His)
c.4464G>C (p.Gln1488His)
3g.38555677C>TCA433135652SCN5Ac.4518G>A (p.Gln1506=)
c.4521G>A (p.Gln1507=)
c.4467G>A (p.Gln1489=)
c.4359G>A (p.Gln1453=)
c.4392G>A (p.Gln1464=)
c.4464G>A (p.Gln1488=)
 COSMIC COSMIC COSMIC
3g.38555678T>ACA352144224SCN5Ac.4517A>T (p.Gln1506Leu)
c.4520A>T (p.Gln1507Leu)
c.4466A>T (p.Gln1489Leu)
c.4358A>T (p.Gln1453Leu)
c.4391A>T (p.Gln1464Leu)
c.4463A>T (p.Gln1488Leu)
3g.38555678T>CCA352144225SCN5Ac.4517A>G (p.Gln1506Arg)
c.4520A>G (p.Gln1507Arg)
c.4466A>G (p.Gln1489Arg)
c.4358A>G (p.Gln1453Arg)
c.4391A>G (p.Gln1464Arg)
c.4463A>G (p.Gln1488Arg)
3g.38555678T>GCA352144226SCN5Ac.4517A>C (p.Gln1506Pro)
c.4520A>C (p.Gln1507Pro)
c.4466A>C (p.Gln1489Pro)
c.4358A>C (p.Gln1453Pro)
c.4391A>C (p.Gln1464Pro)
c.4463A>C (p.Gln1488Pro)
3g.38555679G>ACA352144227SCN5Ac.4516C>T (p.Gln1506Ter)
c.4519C>T (p.Gln1507Ter)
c.4465C>T (p.Gln1489Ter)
c.4357C>T (p.Gln1453Ter)
c.4390C>T (p.Gln1464Ter)
c.4462C>T (p.Gln1488Ter)
3g.38555679G>CCA352144228SCN5Ac.4516C>G (p.Gln1506Glu)
c.4519C>G (p.Gln1507Glu)
c.4465C>G (p.Gln1489Glu)
c.4357C>G (p.Gln1453Glu)
c.4390C>G (p.Gln1464Glu)
c.4462C>G (p.Gln1488Glu)
3g.38555679G>TCA352144229SCN5Ac.4516C>A (p.Gln1506Lys)
c.4519C>A (p.Gln1507Lys)
c.4465C>A (p.Gln1489Lys)
c.4357C>A (p.Gln1453Lys)
c.4390C>A (p.Gln1464Lys)
c.4462C>A (p.Gln1488Lys)
3g.38555680G>ACA433135659SCN5Ac.4515C>T (p.Pro1505=)
c.4518C>T (p.Pro1506=)
c.4464C>T (p.Pro1488=)
c.4356C>T (p.Pro1452=)
c.4389C>T (p.Pro1463=)
c.4461C>T (p.Pro1487=)
3g.38555680G>CCA433135662SCN5Ac.4515C>G (p.Pro1505=)
c.4518C>G (p.Pro1506=)
c.4464C>G (p.Pro1488=)
c.4356C>G (p.Pro1452=)
c.4389C>G (p.Pro1463=)
c.4461C>G (p.Pro1487=)
3g.38555680G=CA1358562814SCN5Ac.4515C= (p.Pro1505=)
c.4518C= (p.Pro1506=)
c.4464C= (p.Pro1488=)
c.4356C= (p.Pro1452=)
c.4389C= (p.Pro1463=)
c.4461C= (p.Pro1487=)
3g.38555680G>TCA433135660SCN5Ac.4515C>A (p.Pro1505=)
c.4518C>A (p.Pro1506=)
c.4464C>A (p.Pro1488=)
c.4356C>A (p.Pro1452=)
c.4389C>A (p.Pro1463=)
c.4461C>A (p.Pro1487=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38555681G>ACA063286SCN5Ac.4514C>T (p.Pro1505Leu)
c.4517C>T (p.Pro1506Leu)
c.4463C>T (p.Pro1488Leu)
c.4355C>T (p.Pro1452Leu)
c.4388C>T (p.Pro1463Leu)
c.4460C>T (p.Pro1487Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38555681G>CCA352144231SCN5Ac.4514C>G (p.Pro1505Arg)
c.4517C>G (p.Pro1506Arg)
c.4463C>G (p.Pro1488Arg)
c.4355C>G (p.Pro1452Arg)
c.4388C>G (p.Pro1463Arg)
c.4460C>G (p.Pro1487Arg)
3g.38555681G=CA1358562819SCN5Ac.4514C= (p.Pro1505=)
c.4517C= (p.Pro1506=)
c.4463C= (p.Pro1488=)
c.4355C= (p.Pro1452=)
c.4388C= (p.Pro1463=)
c.4460C= (p.Pro1487=)
3g.38555681G>TCA352144230SCN5Ac.4514C>A (p.Pro1505His)
c.4517C>A (p.Pro1506His)
c.4463C>A (p.Pro1488His)
c.4355C>A (p.Pro1452His)
c.4388C>A (p.Pro1463His)
c.4460C>A (p.Pro1487His)
 ClinVar
3g.38555682G>ACA352144232SCN5Ac.4513C>T (p.Pro1505Ser)
c.4516C>T (p.Pro1506Ser)
c.4462C>T (p.Pro1488Ser)
c.4354C>T (p.Pro1452Ser)
c.4387C>T (p.Pro1463Ser)
c.4459C>T (p.Pro1487Ser)
 ClinVar dbSNP gnomAD v4
3g.38555682G>CCA352144234SCN5Ac.4513C>G (p.Pro1505Ala)
c.4516C>G (p.Pro1506Ala)
c.4462C>G (p.Pro1488Ala)
c.4354C>G (p.Pro1452Ala)
c.4387C>G (p.Pro1463Ala)
c.4459C>G (p.Pro1487Ala)
 ClinVar dbSNP
3g.38555682G=CA1358562826SCN5Ac.4513C= (p.Pro1505=)
c.4516C= (p.Pro1506=)
c.4462C= (p.Pro1488=)
c.4354C= (p.Pro1452=)
c.4387C= (p.Pro1463=)
c.4459C= (p.Pro1487=)
3g.38555682G>TCA352144233SCN5Ac.4513C>A (p.Pro1505Thr)
c.4516C>A (p.Pro1506Thr)
c.4462C>A (p.Pro1488Thr)
c.4354C>A (p.Pro1452Thr)
c.4387C>A (p.Pro1463Thr)
c.4459C>A (p.Pro1487Thr)
3g.38555689_38555703delCA2586965707SCN5Ac.4499_4513del (p.Leu1500_Lys1504del)
c.4502_4516del (p.Leu1501_Lys1505del)
c.4448_4462del (p.Leu1483_Lys1487del)
c.4340_4354del (p.Leu1447_Lys1451del)
c.4373_4387del (p.Leu1458_Lys1462del)
c.4445_4459del (p.Leu1482_Lys1486del)
3g.38555683C>ACA018404SCN5Ac.4512G>T (p.Lys1504Asn)
c.4515G>T (p.Lys1505Asn)
c.4461G>T (p.Lys1487Asn)
c.4353G>T (p.Lys1451Asn)
c.4386G>T (p.Lys1462Asn)
c.4458G>T (p.Lys1486Asn)
 ClinVar dbSNP
3g.38555683C=CA1358562831SCN5Ac.4512G= (p.Lys1504=)
c.4515G= (p.Lys1505=)
c.4461G= (p.Lys1487=)
c.4353G= (p.Lys1451=)
c.4386G= (p.Lys1462=)
c.4458G= (p.Lys1486=)
3g.38555683C>GCA352144235SCN5Ac.4512G>C (p.Lys1504Asn)
c.4515G>C (p.Lys1505Asn)
c.4461G>C (p.Lys1487Asn)
c.4353G>C (p.Lys1451Asn)
c.4386G>C (p.Lys1462Asn)
c.4458G>C (p.Lys1486Asn)
3g.38555683C>TCA433135670SCN5Ac.4512G>A (p.Lys1504=)
c.4515G>A (p.Lys1505=)
c.4461G>A (p.Lys1487=)
c.4353G>A (p.Lys1451=)
c.4386G>A (p.Lys1462=)
c.4458G>A (p.Lys1486=)
 ClinVar dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched