Chr Mutation (hg38) CAid Gene Transcript Linkouts
3g.38554213_38554227delCA542615560SCN5Ac.4810+55_4810+69del (n.4810+55_4810+69del)
c.4813+55_4813+69del (n.4813+55_4813+69del)
c.4759+55_4759+69del (n.4759+55_4759+69del)
c.4651+55_4651+69del (n.4651+55_4651+69del)
c.4714+151_4714+165del (n.4714+151_4714+165del)
n.271+55_271+69del
c.4684+55_4684+69del (n.4684+55_4684+69del)
c.4756+55_4756+69del (n.4756+55_4756+69del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554225G>CCA2665110114SCN5Ac.4810+54C>G (n.4810+54C>G)
c.4813+54C>G (n.4813+54C>G)
c.4759+54C>G (n.4759+54C>G)
c.4651+54C>G (n.4651+54C>G)
c.4714+150C>G (n.4714+150C>G)
n.271+54C>G
c.4684+54C>G (n.4684+54C>G)
c.4756+54C>G (n.4756+54C>G)
 gnomAD v4
3g.38554225G>TCA2665110115SCN5Ac.4810+54C>A (n.4810+54C>A)
c.4813+54C>A (n.4813+54C>A)
c.4759+54C>A (n.4759+54C>A)
c.4651+54C>A (n.4651+54C>A)
c.4714+150C>A (n.4714+150C>A)
n.271+54C>A
c.4684+54C>A (n.4684+54C>A)
c.4756+54C>A (n.4756+54C>A)
 gnomAD v4
3g.38554227G>TCA2665110119SCN5Ac.4810+52C>A (n.4810+52C>A)
c.4813+52C>A (n.4813+52C>A)
c.4759+52C>A (n.4759+52C>A)
c.4651+52C>A (n.4651+52C>A)
c.4714+148C>A (n.4714+148C>A)
n.271+52C>A
c.4684+52C>A (n.4684+52C>A)
c.4756+52C>A (n.4756+52C>A)
 gnomAD v4
3g.38554228delCA2665110118SCN5Ac.4810+52del (n.4810+52del)
c.4813+52del (n.4813+52del)
c.4759+52del (n.4759+52del)
c.4651+52del (n.4651+52del)
c.4714+148del (n.4714+148del)
n.271+52del
c.4684+52del (n.4684+52del)
c.4756+52del (n.4756+52del)
 gnomAD v4
3g.38554234_38554235insGGGGCTGGGGGAGAGGCCA2665110117SCN5Ac.4810+52_4810+53insCCCAGCCCCGCCTCTCC (n.4810+52_4810+53insCCCAGCCCCGCCTCTCC)
c.4813+52_4813+53insCCCAGCCCCGCCTCTCC (n.4813+52_4813+53insCCCAGCCCCGCCTCTCC)
c.4759+52_4759+53insCCCAGCCCCGCCTCTCC (n.4759+52_4759+53insCCCAGCCCCGCCTCTCC)
c.4651+52_4651+53insCCCAGCCCCGCCTCTCC (n.4651+52_4651+53insCCCAGCCCCGCCTCTCC)
c.4714+148_4714+149insCCCAGCCCCGCCTCTCC (n.4714+148_4714+149insCCCAGCCCCGCCTCTCC)
n.271+52_271+53insCCCAGCCCCGCCTCTCC
c.4684+52_4684+53insCCCAGCCCCGCCTCTCC (n.4684+52_4684+53insCCCAGCCCCGCCTCTCC)
c.4756+52_4756+53insCCCAGCCCCGCCTCTCC (n.4756+52_4756+53insCCCAGCCCCGCCTCTCC)
 gnomAD v4
3g.38554228G>ACA2665110121SCN5Ac.4810+51C>T (n.4810+51C>T)
c.4813+51C>T (n.4813+51C>T)
c.4759+51C>T (n.4759+51C>T)
c.4651+51C>T (n.4651+51C>T)
c.4714+147C>T (n.4714+147C>T)
n.271+51C>T
c.4684+51C>T (n.4684+51C>T)
c.4756+51C>T (n.4756+51C>T)
 gnomAD v4
3g.38554228G>TCA2665110122SCN5Ac.4810+51C>A (n.4810+51C>A)
c.4813+51C>A (n.4813+51C>A)
c.4759+51C>A (n.4759+51C>A)
c.4651+51C>A (n.4651+51C>A)
c.4714+147C>A (n.4714+147C>A)
n.271+51C>A
c.4684+51C>A (n.4684+51C>A)
c.4756+51C>A (n.4756+51C>A)
 gnomAD v4
3g.38554229A=CA1358562998SCN5Ac.4810+50T= (n.4810+50T=)
c.4813+50T= (n.4813+50T=)
c.4759+50T= (n.4759+50T=)
c.4651+50T= (n.4651+50T=)
c.4714+146T= (n.4714+146T=)
n.271+50T=
c.4684+50T= (n.4684+50T=)
c.4756+50T= (n.4756+50T=)
3g.38554229A>TCA906910994SCN5Ac.4810+50T>A (n.4810+50T>A)
c.4813+50T>A (n.4813+50T>A)
c.4759+50T>A (n.4759+50T>A)
c.4651+50T>A (n.4651+50T>A)
c.4714+146T>A (n.4714+146T>A)
n.271+50T>A
c.4684+50T>A (n.4684+50T>A)
c.4756+50T>A (n.4756+50T>A)
 dbSNP gnomAD v3 gnomAD v4
3g.38554231A>CCA2577553270SCN5Ac.4810+48T>G (n.4810+48T>G)
c.4813+48T>G (n.4813+48T>G)
c.4759+48T>G (n.4759+48T>G)
c.4651+48T>G (n.4651+48T>G)
c.4714+144T>G (n.4714+144T>G)
n.271+48T>G
c.4684+48T>G (n.4684+48T>G)
c.4756+48T>G (n.4756+48T>G)
3g.38554232G>TCA2755899326SCN5Ac.4810+47C>A (n.4810+47C>A)
c.4813+47C>A (n.4813+47C>A)
c.4759+47C>A (n.4759+47C>A)
c.4651+47C>A (n.4651+47C>A)
c.4714+143C>A (n.4714+143C>A)
n.271+47C>A
c.4684+47C>A (n.4684+47C>A)
c.4756+47C>A (n.4756+47C>A)
3g.38554233G>ACA2665110129SCN5Ac.4810+46C>T (n.4810+46C>T)
c.4813+46C>T (n.4813+46C>T)
c.4759+46C>T (n.4759+46C>T)
c.4651+46C>T (n.4651+46C>T)
c.4714+142C>T (n.4714+142C>T)
n.271+46C>T
c.4684+46C>T (n.4684+46C>T)
c.4756+46C>T (n.4756+46C>T)
 gnomAD v4
3g.38554233G>TCA2665110127SCN5Ac.4810+46C>A (n.4810+46C>A)
c.4813+46C>A (n.4813+46C>A)
c.4759+46C>A (n.4759+46C>A)
c.4651+46C>A (n.4651+46C>A)
c.4714+142C>A (n.4714+142C>A)
n.271+46C>A
c.4684+46C>A (n.4684+46C>A)
c.4756+46C>A (n.4756+46C>A)
 gnomAD v4
3g.38554234C>ACA2665110131SCN5Ac.4810+45G>T (n.4810+45G>T)
c.4813+45G>T (n.4813+45G>T)
c.4759+45G>T (n.4759+45G>T)
c.4651+45G>T (n.4651+45G>T)
c.4714+141G>T (n.4714+141G>T)
n.271+45G>T
c.4684+45G>T (n.4684+45G>T)
c.4756+45G>T (n.4756+45G>T)
 gnomAD v4
3g.38554237G>TCA2665110132SCN5Ac.4810+42C>A (n.4810+42C>A)
c.4813+42C>A (n.4813+42C>A)
c.4759+42C>A (n.4759+42C>A)
c.4651+42C>A (n.4651+42C>A)
c.4714+138C>A (n.4714+138C>A)
n.271+42C>A
c.4684+42C>A (n.4684+42C>A)
c.4756+42C>A (n.4756+42C>A)
 gnomAD v4
3g.38554238G>TCA2665110134SCN5Ac.4810+41C>A (n.4810+41C>A)
c.4813+41C>A (n.4813+41C>A)
c.4759+41C>A (n.4759+41C>A)
c.4651+41C>A (n.4651+41C>A)
c.4714+137C>A (n.4714+137C>A)
n.271+41C>A
c.4684+41C>A (n.4684+41C>A)
c.4756+41C>A (n.4756+41C>A)
 gnomAD v4
3g.38554239C>ACA2665110135SCN5Ac.4810+40G>T (n.4810+40G>T)
c.4813+40G>T (n.4813+40G>T)
c.4759+40G>T (n.4759+40G>T)
c.4651+40G>T (n.4651+40G>T)
c.4714+136G>T (n.4714+136G>T)
n.271+40G>T
c.4684+40G>T (n.4684+40G>T)
c.4756+40G>T (n.4756+40G>T)
 gnomAD v4
3g.38554239C>TCA2665110136SCN5Ac.4810+40G>A (n.4810+40G>A)
c.4813+40G>A (n.4813+40G>A)
c.4759+40G>A (n.4759+40G>A)
c.4651+40G>A (n.4651+40G>A)
c.4714+136G>A (n.4714+136G>A)
n.271+40G>A
c.4684+40G>A (n.4684+40G>A)
c.4756+40G>A (n.4756+40G>A)
 gnomAD v4
3g.38554244delCA2665110137SCN5Ac.4810+38del (n.4810+38del)
c.4813+38del (n.4813+38del)
c.4759+38del (n.4759+38del)
c.4651+38del (n.4651+38del)
c.4714+134del (n.4714+134del)
n.271+38del
c.4684+38del (n.4684+38del)
c.4756+38del (n.4756+38del)
 gnomAD v4
3g.38554242G>CCA542615561SCN5Ac.4810+37C>G (n.4810+37C>G)
c.4813+37C>G (n.4813+37C>G)
c.4759+37C>G (n.4759+37C>G)
c.4651+37C>G (n.4651+37C>G)
c.4714+133C>G (n.4714+133C>G)
n.271+37C>G
c.4684+37C>G (n.4684+37C>G)
c.4756+37C>G (n.4756+37C>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554242G=CA1358562999SCN5Ac.4810+37C= (n.4810+37C=)
c.4813+37C= (n.4813+37C=)
c.4759+37C= (n.4759+37C=)
c.4651+37C= (n.4651+37C=)
c.4714+133C= (n.4714+133C=)
n.271+37C=
c.4684+37C= (n.4684+37C=)
c.4756+37C= (n.4756+37C=)
3g.38554243G>ACA1358563002SCN5Ac.4810+36C>T (n.4810+36C>T)
c.4813+36C>T (n.4813+36C>T)
c.4759+36C>T (n.4759+36C>T)
c.4651+36C>T (n.4651+36C>T)
c.4714+132C>T (n.4714+132C>T)
n.271+36C>T
c.4684+36C>T (n.4684+36C>T)
c.4756+36C>T (n.4756+36C>T)
 dbSNP
3g.38554243G=CA1358563000SCN5Ac.4810+36C= (n.4810+36C=)
c.4813+36C= (n.4813+36C=)
c.4759+36C= (n.4759+36C=)
c.4651+36C= (n.4651+36C=)
c.4714+132C= (n.4714+132C=)
n.271+36C=
c.4684+36C= (n.4684+36C=)
c.4756+36C= (n.4756+36C=)
3g.38554245A=CA1358563003SCN5Ac.4810+34T= (n.4810+34T=)
c.4813+34T= (n.4813+34T=)
c.4759+34T= (n.4759+34T=)
c.4651+34T= (n.4651+34T=)
c.4714+130T= (n.4714+130T=)
n.271+34T=
c.4684+34T= (n.4684+34T=)
c.4756+34T= (n.4756+34T=)
3g.38554245A>GCA063691SCN5Ac.4810+34T>C (n.4810+34T>C)
c.4813+34T>C (n.4813+34T>C)
c.4759+34T>C (n.4759+34T>C)
c.4651+34T>C (n.4651+34T>C)
c.4714+130T>C (n.4714+130T>C)
n.271+34T>C
c.4684+34T>C (n.4684+34T>C)
c.4756+34T>C (n.4756+34T>C)
 dbSNP ExAC gnomAD v3 gnomAD v4
3g.38554246G>ACA2665110139SCN5Ac.4810+33C>T (n.4810+33C>T)
c.4813+33C>T (n.4813+33C>T)
c.4759+33C>T (n.4759+33C>T)
c.4651+33C>T (n.4651+33C>T)
c.4714+129C>T (n.4714+129C>T)
n.271+33C>T
c.4684+33C>T (n.4684+33C>T)
c.4756+33C>T (n.4756+33C>T)
 gnomAD v4
3g.38554246G>CCA1046988722SCN5Ac.4810+33C>G (n.4810+33C>G)
c.4813+33C>G (n.4813+33C>G)
c.4759+33C>G (n.4759+33C>G)
c.4651+33C>G (n.4651+33C>G)
c.4714+129C>G (n.4714+129C>G)
n.271+33C>G
c.4684+33C>G (n.4684+33C>G)
c.4756+33C>G (n.4756+33C>G)
 dbSNP gnomAD v3 gnomAD v4
3g.38554246G=CA1358563004SCN5Ac.4810+33C= (n.4810+33C=)
c.4813+33C= (n.4813+33C=)
c.4759+33C= (n.4759+33C=)
c.4651+33C= (n.4651+33C=)
c.4714+129C= (n.4714+129C=)
n.271+33C=
c.4684+33C= (n.4684+33C=)
c.4756+33C= (n.4756+33C=)
3g.38554247G>ACA542615551SCN5Ac.4810+32C>T (n.4810+32C>T)
c.4813+32C>T (n.4813+32C>T)
c.4759+32C>T (n.4759+32C>T)
c.4651+32C>T (n.4651+32C>T)
c.4714+128C>T (n.4714+128C>T)
n.271+32C>T
c.4684+32C>T (n.4684+32C>T)
c.4756+32C>T (n.4756+32C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554247G=CA1358563005SCN5Ac.4810+32C= (n.4810+32C=)
c.4813+32C= (n.4813+32C=)
c.4759+32C= (n.4759+32C=)
c.4651+32C= (n.4651+32C=)
c.4714+128C= (n.4714+128C=)
n.271+32C=
c.4684+32C= (n.4684+32C=)
c.4756+32C= (n.4756+32C=)
3g.38554248G>ACA2577553271SCN5Ac.4810+31C>T (n.4810+31C>T)
c.4813+31C>T (n.4813+31C>T)
c.4759+31C>T (n.4759+31C>T)
c.4651+31C>T (n.4651+31C>T)
c.4714+127C>T (n.4714+127C>T)
n.271+31C>T
c.4684+31C>T (n.4684+31C>T)
c.4756+31C>T (n.4756+31C>T)
3g.38554248G>CCA1358563007SCN5Ac.4810+31C>G (n.4810+31C>G)
c.4813+31C>G (n.4813+31C>G)
c.4759+31C>G (n.4759+31C>G)
c.4651+31C>G (n.4651+31C>G)
c.4714+127C>G (n.4714+127C>G)
n.271+31C>G
c.4684+31C>G (n.4684+31C>G)
c.4756+31C>G (n.4756+31C>G)
 dbSNP gnomAD v4
3g.38554248G=CA1358563006SCN5Ac.4810+31C= (n.4810+31C=)
c.4813+31C= (n.4813+31C=)
c.4759+31C= (n.4759+31C=)
c.4651+31C= (n.4651+31C=)
c.4714+127C= (n.4714+127C=)
n.271+31C=
c.4684+31C= (n.4684+31C=)
c.4756+31C= (n.4756+31C=)
3g.38554249C>TCA2755899327SCN5Ac.4810+30G>A (n.4810+30G>A)
c.4813+30G>A (n.4813+30G>A)
c.4759+30G>A (n.4759+30G>A)
c.4651+30G>A (n.4651+30G>A)
c.4714+126G>A (n.4714+126G>A)
n.271+30G>A
c.4684+30G>A (n.4684+30G>A)
c.4756+30G>A (n.4756+30G>A)
3g.38554250T>ACA906911002SCN5Ac.4810+29A>T (n.4810+29A>T)
c.4813+29A>T (n.4813+29A>T)
c.4759+29A>T (n.4759+29A>T)
c.4651+29A>T (n.4651+29A>T)
c.4714+125A>T (n.4714+125A>T)
n.271+29A>T
c.4684+29A>T (n.4684+29A>T)
c.4756+29A>T (n.4756+29A>T)
 dbSNP
3g.38554250T>CCA063685SCN5Ac.4810+29A>G (n.4810+29A>G)
c.4813+29A>G (n.4813+29A>G)
c.4759+29A>G (n.4759+29A>G)
c.4651+29A>G (n.4651+29A>G)
c.4714+125A>G (n.4714+125A>G)
n.271+29A>G
c.4684+29A>G (n.4684+29A>G)
c.4756+29A>G (n.4756+29A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38554250T>GCA542615552SCN5Ac.4810+29A>C (n.4810+29A>C)
c.4813+29A>C (n.4813+29A>C)
c.4759+29A>C (n.4759+29A>C)
c.4651+29A>C (n.4651+29A>C)
c.4714+125A>C (n.4714+125A>C)
n.271+29A>C
c.4684+29A>C (n.4684+29A>C)
c.4756+29A>C (n.4756+29A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554250T=CA1358563010SCN5Ac.4810+29A= (n.4810+29A=)
c.4813+29A= (n.4813+29A=)
c.4759+29A= (n.4759+29A=)
c.4651+29A= (n.4651+29A=)
c.4714+125A= (n.4714+125A=)
n.271+29A=
c.4684+29A= (n.4684+29A=)
c.4756+29A= (n.4756+29A=)
3g.38554253T>CCA2665110145SCN5Ac.4810+26A>G (n.4810+26A>G)
c.4813+26A>G (n.4813+26A>G)
c.4759+26A>G (n.4759+26A>G)
c.4651+26A>G (n.4651+26A>G)
c.4714+122A>G (n.4714+122A>G)
n.271+26A>G
c.4684+26A>G (n.4684+26A>G)
c.4756+26A>G (n.4756+26A>G)
 gnomAD v4
3g.38554255C>ACA2755899332SCN5Ac.4810+24G>T (n.4810+24G>T)
c.4813+24G>T (n.4813+24G>T)
c.4759+24G>T (n.4759+24G>T)
c.4651+24G>T (n.4651+24G>T)
c.4714+120G>T (n.4714+120G>T)
n.271+24G>T
c.4684+24G>T (n.4684+24G>T)
c.4756+24G>T (n.4756+24G>T)
3g.38554255C=CA1358563011SCN5Ac.4810+24G= (n.4810+24G=)
c.4813+24G= (n.4813+24G=)
c.4759+24G= (n.4759+24G=)
c.4651+24G= (n.4651+24G=)
c.4714+120G= (n.4714+120G=)
n.271+24G=
c.4684+24G= (n.4684+24G=)
c.4756+24G= (n.4756+24G=)
3g.38554255C>TCA063677SCN5Ac.4810+24G>A (n.4810+24G>A)
c.4813+24G>A (n.4813+24G>A)
c.4759+24G>A (n.4759+24G>A)
c.4651+24G>A (n.4651+24G>A)
c.4714+120G>A (n.4714+120G>A)
n.271+24G>A
c.4684+24G>A (n.4684+24G>A)
c.4756+24G>A (n.4756+24G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554256G>ACA063674SCN5Ac.4810+23C>T (n.4810+23C>T)
c.4813+23C>T (n.4813+23C>T)
c.4759+23C>T (n.4759+23C>T)
c.4651+23C>T (n.4651+23C>T)
c.4714+119C>T (n.4714+119C>T)
n.271+23C>T
c.4684+23C>T (n.4684+23C>T)
c.4756+23C>T (n.4756+23C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554256G=CA1358563012SCN5Ac.4810+23C= (n.4810+23C=)
c.4813+23C= (n.4813+23C=)
c.4759+23C= (n.4759+23C=)
c.4651+23C= (n.4651+23C=)
c.4714+119C= (n.4714+119C=)
n.271+23C=
c.4684+23C= (n.4684+23C=)
c.4756+23C= (n.4756+23C=)
3g.38554258C>ACA2665110151SCN5Ac.4810+21G>T (n.4810+21G>T)
c.4813+21G>T (n.4813+21G>T)
c.4759+21G>T (n.4759+21G>T)
c.4651+21G>T (n.4651+21G>T)
c.4714+117G>T (n.4714+117G>T)
n.271+21G>T
c.4684+21G>T (n.4684+21G>T)
c.4756+21G>T (n.4756+21G>T)
 gnomAD v4
3g.38554258C=CA1358563013SCN5Ac.4810+21G= (n.4810+21G=)
c.4813+21G= (n.4813+21G=)
c.4759+21G= (n.4759+21G=)
c.4651+21G= (n.4651+21G=)
c.4714+117G= (n.4714+117G=)
n.271+21G=
c.4684+21G= (n.4684+21G=)
c.4756+21G= (n.4756+21G=)
3g.38554258C>TCA063669SCN5Ac.4810+21G>A (n.4810+21G>A)
c.4813+21G>A (n.4813+21G>A)
c.4759+21G>A (n.4759+21G>A)
c.4651+21G>A (n.4651+21G>A)
c.4714+117G>A (n.4714+117G>A)
n.271+21G>A
c.4684+21G>A (n.4684+21G>A)
c.4756+21G>A (n.4756+21G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38554259C>ACA2665110152SCN5Ac.4810+20G>T (n.4810+20G>T)
c.4813+20G>T (n.4813+20G>T)
c.4759+20G>T (n.4759+20G>T)
c.4651+20G>T (n.4651+20G>T)
c.4714+116G>T (n.4714+116G>T)
n.271+20G>T
c.4684+20G>T (n.4684+20G>T)
c.4756+20G>T (n.4756+20G>T)
 gnomAD v4
3g.38554260A=CA1358563015SCN5Ac.4810+19T= (n.4810+19T=)
c.4813+19T= (n.4813+19T=)
c.4759+19T= (n.4759+19T=)
c.4651+19T= (n.4651+19T=)
c.4714+115T= (n.4714+115T=)
n.271+19T=
c.4684+19T= (n.4684+19T=)
c.4756+19T= (n.4756+19T=)
3g.38554260A>TCA72942375SCN5Ac.4810+19T>A (n.4810+19T>A)
c.4813+19T>A (n.4813+19T>A)
c.4759+19T>A (n.4759+19T>A)
c.4651+19T>A (n.4651+19T>A)
c.4714+115T>A (n.4714+115T>A)
n.271+19T>A
c.4684+19T>A (n.4684+19T>A)
c.4756+19T>A (n.4756+19T>A)
 dbSNP gnomAD v4
3g.38554261G>CCA2739279202SCN5Ac.4810+18C>G (n.4810+18C>G)
c.4813+18C>G (n.4813+18C>G)
c.4759+18C>G (n.4759+18C>G)
c.4651+18C>G (n.4651+18C>G)
c.4714+114C>G (n.4714+114C>G)
n.271+18C>G
c.4684+18C>G (n.4684+18C>G)
c.4756+18C>G (n.4756+18C>G)
 ClinVar
3g.38554261G=CA1358563016SCN5Ac.4810+18C= (n.4810+18C=)
c.4813+18C= (n.4813+18C=)
c.4759+18C= (n.4759+18C=)
c.4651+18C= (n.4651+18C=)
c.4714+114C= (n.4714+114C=)
n.271+18C=
c.4684+18C= (n.4684+18C=)
c.4756+18C= (n.4756+18C=)
3g.38554261G>TCA542615553SCN5Ac.4810+18C>A (n.4810+18C>A)
c.4813+18C>A (n.4813+18C>A)
c.4759+18C>A (n.4759+18C>A)
c.4651+18C>A (n.4651+18C>A)
c.4714+114C>A (n.4714+114C>A)
n.271+18C>A
c.4684+18C>A (n.4684+18C>A)
c.4756+18C>A (n.4756+18C>A)
 dbSNP gnomAD v2 gnomAD v4
3g.38554262C>ACA2665110154SCN5Ac.4810+17G>T (n.4810+17G>T)
c.4813+17G>T (n.4813+17G>T)
c.4759+17G>T (n.4759+17G>T)
c.4651+17G>T (n.4651+17G>T)
c.4714+113G>T (n.4714+113G>T)
n.271+17G>T
c.4684+17G>T (n.4684+17G>T)
c.4756+17G>T (n.4756+17G>T)
 gnomAD v4
3g.38554263T>CCA2665110155SCN5Ac.4810+16A>G (n.4810+16A>G)
c.4813+16A>G (n.4813+16A>G)
c.4759+16A>G (n.4759+16A>G)
c.4651+16A>G (n.4651+16A>G)
c.4714+112A>G (n.4714+112A>G)
n.271+16A>G
c.4684+16A>G (n.4684+16A>G)
c.4756+16A>G (n.4756+16A>G)
 gnomAD v4
3g.38554264G>CCA2755899344SCN5Ac.4810+15C>G (n.4810+15C>G)
c.4813+15C>G (n.4813+15C>G)
c.4759+15C>G (n.4759+15C>G)
c.4651+15C>G (n.4651+15C>G)
c.4714+111C>G (n.4714+111C>G)
n.271+15C>G
c.4684+15C>G (n.4684+15C>G)
c.4756+15C>G (n.4756+15C>G)
3g.38554264G>TCA2665110157SCN5Ac.4810+15C>A (n.4810+15C>A)
c.4813+15C>A (n.4813+15C>A)
c.4759+15C>A (n.4759+15C>A)
c.4651+15C>A (n.4651+15C>A)
c.4714+111C>A (n.4714+111C>A)
n.271+15C>A
c.4684+15C>A (n.4684+15C>A)
c.4756+15C>A (n.4756+15C>A)
 gnomAD v4
3g.38554271A=CA1358563017SCN5Ac.4810+8T= (n.4810+8T=)
c.4813+8T= (n.4813+8T=)
c.4759+8T= (n.4759+8T=)
c.4651+8T= (n.4651+8T=)
c.4714+104T= (n.4714+104T=)
n.271+8T=
c.4684+8T= (n.4684+8T=)
c.4756+8T= (n.4756+8T=)
3g.38554271A>GCA063700SCN5Ac.4810+8T>C (n.4810+8T>C)
c.4813+8T>C (n.4813+8T>C)
c.4759+8T>C (n.4759+8T>C)
c.4651+8T>C (n.4651+8T>C)
c.4714+104T>C (n.4714+104T>C)
n.271+8T>C
c.4684+8T>C (n.4684+8T>C)
c.4756+8T>C (n.4756+8T>C)
 dbSNP ExAC gnomAD v4
3g.38554272T>CCA063695SCN5Ac.4810+7A>G (n.4810+7A>G)
c.4813+7A>G (n.4813+7A>G)
c.4759+7A>G (n.4759+7A>G)
c.4651+7A>G (n.4651+7A>G)
c.4714+103A>G (n.4714+103A>G)
n.271+7A>G
c.4684+7A>G (n.4684+7A>G)
c.4756+7A>G (n.4756+7A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554272T=CA1358563019SCN5Ac.4810+7A= (n.4810+7A=)
c.4813+7A= (n.4813+7A=)
c.4759+7A= (n.4759+7A=)
c.4651+7A= (n.4651+7A=)
c.4714+103A= (n.4714+103A=)
n.271+7A=
c.4684+7A= (n.4684+7A=)
c.4756+7A= (n.4756+7A=)
3g.38554279_38554282dupCA10586351SCN5Ac.4810+3_4810+6dup
c.4813+3_4813+6dup
c.4759+3_4759+6dup
c.4651+3_4651+6dup
c.4714+99_4714+102dup (n.4714+99_4714+102dup)
n.271+3_271+6dup
c.4684+3_4684+6dup
c.4756+3_4756+6dup
 ClinVar gnomAD v4
3g.38554274C>ACA2508647414SCN5Ac.4810+5G>T (n.4810+5G>T)
c.4813+5G>T (n.4813+5G>T)
c.4759+5G>T (n.4759+5G>T)
c.4651+5G>T (n.4651+5G>T)
c.4714+101G>T (n.4714+101G>T)
n.271+5G>T
c.4684+5G>T (n.4684+5G>T)
c.4756+5G>T (n.4756+5G>T)
 ClinVar gnomAD v4
3g.38554274C>GCA2573332692SCN5Ac.4810+5G>C (n.4810+5G>C)
c.4813+5G>C (n.4813+5G>C)
c.4759+5G>C (n.4759+5G>C)
c.4651+5G>C (n.4651+5G>C)
c.4714+101G>C (n.4714+101G>C)
n.271+5G>C
c.4684+5G>C (n.4684+5G>C)
c.4756+5G>C (n.4756+5G>C)
3g.38554274C>TCA2573052152SCN5Ac.4810+5G>A (n.4810+5G>A)
c.4813+5G>A (n.4813+5G>A)
c.4759+5G>A (n.4759+5G>A)
c.4651+5G>A (n.4651+5G>A)
c.4714+101G>A (n.4714+101G>A)
n.271+5G>A
c.4684+5G>A (n.4684+5G>A)
c.4756+5G>A (n.4756+5G>A)
 ClinVar dbSNP
3g.38554275C>ACA2665110175SCN5Ac.4810+4G>T (n.4810+4G>T)
c.4813+4G>T (n.4813+4G>T)
c.4759+4G>T (n.4759+4G>T)
c.4651+4G>T (n.4651+4G>T)
c.4714+100G>T (n.4714+100G>T)
n.271+4G>T
c.4684+4G>T (n.4684+4G>T)
c.4756+4G>T (n.4756+4G>T)
 gnomAD v4
3g.38554275C=CA1358563021SCN5Ac.4810+4G= (n.4810+4G=)
c.4813+4G= (n.4813+4G=)
c.4759+4G= (n.4759+4G=)
c.4651+4G= (n.4651+4G=)
c.4714+100G= (n.4714+100G=)
n.271+4G=
c.4684+4G= (n.4684+4G=)
c.4756+4G= (n.4756+4G=)
3g.38554275C>GCA2577553272SCN5Ac.4810+4G>C (n.4810+4G>C)
c.4813+4G>C (n.4813+4G>C)
c.4759+4G>C (n.4759+4G>C)
c.4651+4G>C (n.4651+4G>C)
c.4714+100G>C (n.4714+100G>C)
n.271+4G>C
c.4684+4G>C (n.4684+4G>C)
c.4756+4G>C (n.4756+4G>C)
3g.38554275C>TCA72942383SCN5Ac.4810+4G>A (n.4810+4G>A)
c.4813+4G>A (n.4813+4G>A)
c.4759+4G>A (n.4759+4G>A)
c.4651+4G>A (n.4651+4G>A)
c.4714+100G>A (n.4714+100G>A)
n.271+4G>A
c.4684+4G>A (n.4684+4G>A)
c.4756+4G>A (n.4756+4G>A)
 ClinVar dbSNP gnomAD v4
3g.38554276C=CA1358563023SCN5Ac.4810+3G= (n.4810+3G=)
c.4813+3G= (n.4813+3G=)
c.4759+3G= (n.4759+3G=)
c.4651+3G= (n.4651+3G=)
c.4714+99G= (n.4714+99G=)
n.271+3G=
c.4684+3G= (n.4684+3G=)
c.4756+3G= (n.4756+3G=)
3g.38554276C>TCA542615554SCN5Ac.4810+3G>A (n.4810+3G>A)
c.4813+3G>A (n.4813+3G>A)
c.4759+3G>A (n.4759+3G>A)
c.4651+3G>A (n.4651+3G>A)
c.4714+99G>A (n.4714+99G>A)
n.271+3G>A
c.4684+3G>A (n.4684+3G>A)
c.4756+3G>A (n.4756+3G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554277A>CCA352143564SCN5Ac.4810+2T>G (n.4810+2T>G)
c.4813+2T>G (n.4813+2T>G)
c.4759+2T>G (n.4759+2T>G)
c.4651+2T>G (n.4651+2T>G)
c.4714+98T>G (n.4714+98T>G)
n.271+2T>G
c.4684+2T>G (n.4684+2T>G)
c.4756+2T>G (n.4756+2T>G)
3g.38554277A>GCA352143565SCN5Ac.4810+2T>C (n.4810+2T>C)
c.4813+2T>C (n.4813+2T>C)
c.4759+2T>C (n.4759+2T>C)
c.4651+2T>C (n.4651+2T>C)
c.4714+98T>C (n.4714+98T>C)
n.271+2T>C
c.4684+2T>C (n.4684+2T>C)
c.4756+2T>C (n.4756+2T>C)
3g.38554277A>TCA352143566SCN5Ac.4810+2T>A (n.4810+2T>A)
c.4813+2T>A (n.4813+2T>A)
c.4759+2T>A (n.4759+2T>A)
c.4651+2T>A (n.4651+2T>A)
c.4714+98T>A (n.4714+98T>A)
n.271+2T>A
c.4684+2T>A (n.4684+2T>A)
c.4756+2T>A (n.4756+2T>A)
3g.38554278C>ACA352143567SCN5Ac.4810+1G>T (n.4810+1G>T)
c.4813+1G>T (n.4813+1G>T)
c.4759+1G>T (n.4759+1G>T)
c.4651+1G>T (n.4651+1G>T)
c.4714+97G>T (n.4714+97G>T)
n.271+1G>T
c.4684+1G>T (n.4684+1G>T)
c.4756+1G>T (n.4756+1G>T)
3g.38554278C=CA1358563025SCN5Ac.4810+1G= (n.4810+1G=)
c.4813+1G= (n.4813+1G=)
c.4759+1G= (n.4759+1G=)
c.4651+1G= (n.4651+1G=)
c.4714+97G= (n.4714+97G=)
n.271+1G=
c.4684+1G= (n.4684+1G=)
c.4756+1G= (n.4756+1G=)
3g.38554278C>GCA352143568SCN5Ac.4810+1G>C (n.4810+1G>C)
c.4813+1G>C (n.4813+1G>C)
c.4759+1G>C (n.4759+1G>C)
c.4651+1G>C (n.4651+1G>C)
c.4714+97G>C (n.4714+97G>C)
n.271+1G>C
c.4684+1G>C (n.4684+1G>C)
c.4756+1G>C (n.4756+1G>C)
3g.38554278C>TCA063664SCN5Ac.4810+1G>A (n.4810+1G>A)
c.4813+1G>A (n.4813+1G>A)
c.4759+1G>A (n.4759+1G>A)
c.4651+1G>A (n.4651+1G>A)
c.4714+97G>A (n.4714+97G>A)
n.271+1G>A
c.4684+1G>A (n.4684+1G>A)
c.4756+1G>A (n.4756+1G>A)
 dbSNP ExAC gnomAD v2
3g.38554279C>ACA352143569SCN5Ac.4810G>T (p.Gly1604Cys)
c.4813G>T (p.Gly1605Cys)
c.4759G>T (p.Gly1587Cys)
c.4651G>T (p.Gly1551Cys)
c.4714+96G>T (n.4714+96G>T)
n.271G>T
c.4684G>T (p.Gly1562Cys)
c.4756G>T (p.Gly1586Cys)
 dbSNP gnomAD v2 gnomAD v4
3g.38554279C=CA1358563027SCN5Ac.4810G= (p.Gly1604=)
c.4813G= (p.Gly1605=)
c.4759G= (p.Gly1587=)
c.4651G= (p.Gly1551=)
c.4714+96G= (n.4714+96G=)
n.271G=
c.4684G= (p.Gly1562=)
c.4756G= (p.Gly1586=)
3g.38554279C>GCA018582SCN5Ac.4810G>C (p.Gly1604Arg)
c.4813G>C (p.Gly1605Arg)
c.4759G>C (p.Gly1587Arg)
c.4651G>C (p.Gly1551Arg)
c.4714+96G>C (n.4714+96G>C)
n.271G>C
c.4684G>C (p.Gly1562Arg)
c.4756G>C (p.Gly1586Arg)
 ClinVar dbSNP
3g.38554279C>TCA352143570SCN5Ac.4810G>A (p.Gly1604Ser)
c.4813G>A (p.Gly1605Ser)
c.4759G>A (p.Gly1587Ser)
c.4651G>A (p.Gly1551Ser)
c.4714+96G>A (n.4714+96G>A)
n.271G>A
c.4684G>A (p.Gly1562Ser)
c.4756G>A (p.Gly1586Ser)
3g.38554280C>ACA433134480SCN5Ac.4809G>T (p.Val1603=)
c.4812G>T (p.Val1604=)
c.4758G>T (p.Val1586=)
c.4650G>T (p.Val1550=)
c.4714+95G>T (n.4714+95G>T)
n.270G>T
c.4683G>T (p.Val1561=)
c.4755G>T (p.Val1585=)
3g.38554280C>GCA433134481SCN5Ac.4809G>C (p.Val1603=)
c.4812G>C (p.Val1604=)
c.4758G>C (p.Val1586=)
c.4650G>C (p.Val1550=)
c.4714+95G>C (n.4714+95G>C)
n.270G>C
c.4683G>C (p.Val1561=)
c.4755G>C (p.Val1585=)
3g.38554280C>TCA433134482SCN5Ac.4809G>A (p.Val1603=)
c.4812G>A (p.Val1604=)
c.4758G>A (p.Val1586=)
c.4650G>A (p.Val1550=)
c.4714+95G>A (n.4714+95G>A)
n.270G>A
c.4683G>A (p.Val1561=)
c.4755G>A (p.Val1585=)
3g.38554281A>CCA352143571SCN5Ac.4808T>G (p.Val1603Gly)
c.4811T>G (p.Val1604Gly)
c.4757T>G (p.Val1586Gly)
c.4649T>G (p.Val1550Gly)
c.4714+94T>G (n.4714+94T>G)
n.269T>G
c.4682T>G (p.Val1561Gly)
c.4754T>G (p.Val1585Gly)
3g.38554281A>GCA352143572SCN5Ac.4808T>C (p.Val1603Ala)
c.4811T>C (p.Val1604Ala)
c.4757T>C (p.Val1586Ala)
c.4649T>C (p.Val1550Ala)
c.4714+94T>C (n.4714+94T>C)
n.269T>C
c.4682T>C (p.Val1561Ala)
c.4754T>C (p.Val1585Ala)
 ClinVar
3g.38554281A>TCA352143573SCN5Ac.4808T>A (p.Val1603Glu)
c.4811T>A (p.Val1604Glu)
c.4757T>A (p.Val1586Glu)
c.4649T>A (p.Val1550Glu)
c.4714+94T>A (n.4714+94T>A)
n.269T>A
c.4682T>A (p.Val1561Glu)
c.4754T>A (p.Val1585Glu)
3g.38554282C>ACA352143574SCN5Ac.4807G>T (p.Val1603Leu)
c.4810G>T (p.Val1604Leu)
c.4756G>T (p.Val1586Leu)
c.4648G>T (p.Val1550Leu)
c.4714+93G>T (n.4714+93G>T)
n.268G>T
c.4681G>T (p.Val1561Leu)
c.4753G>T (p.Val1585Leu)
3g.38554282C=CA1358563029SCN5Ac.4807G= (p.Val1603=)
c.4810G= (p.Val1604=)
c.4756G= (p.Val1586=)
c.4648G= (p.Val1550=)
c.4714+93G= (n.4714+93G=)
n.268G=
c.4681G= (p.Val1561=)
c.4753G= (p.Val1585=)
3g.38554282C>GCA352143575SCN5Ac.4807G>C (p.Val1603Leu)
c.4810G>C (p.Val1604Leu)
c.4756G>C (p.Val1586Leu)
c.4648G>C (p.Val1550Leu)
c.4714+93G>C (n.4714+93G>C)
n.268G>C
c.4681G>C (p.Val1561Leu)
c.4753G>C (p.Val1585Leu)
3g.38554282C>TCA018577SCN5Ac.4807G>A (p.Val1603Met)
c.4810G>A (p.Val1604Met)
c.4756G>A (p.Val1586Met)
c.4648G>A (p.Val1550Met)
c.4714+93G>A (n.4714+93G>A)
n.268G>A
c.4681G>A (p.Val1561Met)
c.4753G>A (p.Val1585Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554283G>ACA063642SCN5Ac.4806C>T (p.Ile1602=)
c.4809C>T (p.Ile1603=)
c.4755C>T (p.Ile1585=)
c.4647C>T (p.Ile1549=)
c.4714+92C>T (n.4714+92C>T)
n.267C>T
c.4680C>T (p.Ile1560=)
c.4752C>T (p.Ile1584=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC
3g.38554283G>CCA352143576SCN5Ac.4806C>G (p.Ile1602Met)
c.4809C>G (p.Ile1603Met)
c.4755C>G (p.Ile1585Met)
c.4647C>G (p.Ile1549Met)
c.4714+92C>G (n.4714+92C>G)
n.267C>G
c.4680C>G (p.Ile1560Met)
c.4752C>G (p.Ile1584Met)
3g.38554283G=CA1358563034SCN5Ac.4806C= (p.Ile1602=)
c.4809C= (p.Ile1603=)
c.4755C= (p.Ile1585=)
c.4647C= (p.Ile1549=)
c.4714+92C= (n.4714+92C=)
n.267C=
c.4680C= (p.Ile1560=)
c.4752C= (p.Ile1584=)
3g.38554283G>TCA433134483SCN5Ac.4806C>A (p.Ile1602=)
c.4809C>A (p.Ile1603=)
c.4755C>A (p.Ile1585=)
c.4647C>A (p.Ile1549=)
c.4714+92C>A (n.4714+92C>A)
n.267C>A
c.4680C>A (p.Ile1560=)
c.4752C>A (p.Ile1584=)
 dbSNP gnomAD v3 gnomAD v4
3g.38554284A>CCA352143579SCN5Ac.4805T>G (p.Ile1602Ser)
c.4808T>G (p.Ile1603Ser)
c.4754T>G (p.Ile1585Ser)
c.4646T>G (p.Ile1549Ser)
c.4714+91T>G (n.4714+91T>G)
n.266T>G
c.4679T>G (p.Ile1560Ser)
c.4751T>G (p.Ile1584Ser)
3g.38554284A>GCA352143578SCN5Ac.4805T>C (p.Ile1602Thr)
c.4808T>C (p.Ile1603Thr)
c.4754T>C (p.Ile1585Thr)
c.4646T>C (p.Ile1549Thr)
c.4714+91T>C (n.4714+91T>C)
n.266T>C
c.4679T>C (p.Ile1560Thr)
c.4751T>C (p.Ile1584Thr)
 gnomAD v4
3g.38554284A>TCA352143577SCN5Ac.4805T>A (p.Ile1602Asn)
c.4808T>A (p.Ile1603Asn)
c.4754T>A (p.Ile1585Asn)
c.4646T>A (p.Ile1549Asn)
c.4714+91T>A (n.4714+91T>A)
n.266T>A
c.4679T>A (p.Ile1560Asn)
c.4751T>A (p.Ile1584Asn)
3g.38554285T>ACA352143580SCN5Ac.4804A>T (p.Ile1602Phe)
c.4807A>T (p.Ile1603Phe)
c.4753A>T (p.Ile1585Phe)
c.4645A>T (p.Ile1549Phe)
c.4714+90A>T (n.4714+90A>T)
n.265A>T
c.4678A>T (p.Ile1560Phe)
c.4750A>T (p.Ile1584Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554285T>CCA352143581SCN5Ac.4804A>G (p.Ile1602Val)
c.4807A>G (p.Ile1603Val)
c.4753A>G (p.Ile1585Val)
c.4645A>G (p.Ile1549Val)
c.4714+90A>G (n.4714+90A>G)
n.265A>G
c.4678A>G (p.Ile1560Val)
c.4750A>G (p.Ile1584Val)
 ClinVar dbSNP gnomAD v4
3g.38554285T>GCA352143582SCN5Ac.4804A>C (p.Ile1602Leu)
c.4807A>C (p.Ile1603Leu)
c.4753A>C (p.Ile1585Leu)
c.4645A>C (p.Ile1549Leu)
c.4714+90A>C (n.4714+90A>C)
n.265A>C
c.4678A>C (p.Ile1560Leu)
c.4750A>C (p.Ile1584Leu)
3g.38554285T=CA1358563039SCN5Ac.4804A= (p.Ile1602=)
c.4807A= (p.Ile1603=)
c.4753A= (p.Ile1585=)
c.4645A= (p.Ile1549=)
c.4714+90A= (n.4714+90A=)
n.265A=
c.4678A= (p.Ile1560=)
c.4750A= (p.Ile1584=)
3g.38554286G>ACA433134484SCN5Ac.4803C>T (p.Ser1601=)
c.4806C>T (p.Ser1602=)
c.4752C>T (p.Ser1584=)
c.4644C>T (p.Ser1548=)
c.4714+89C>T (n.4714+89C>T)
n.264C>T
c.4677C>T (p.Ser1559=)
c.4749C>T (p.Ser1583=)
 gnomAD v4 COSMIC COSMIC COSMIC
3g.38554286G>CCA433134486SCN5Ac.4803C>G (p.Ser1601=)
c.4806C>G (p.Ser1602=)
c.4752C>G (p.Ser1584=)
c.4644C>G (p.Ser1548=)
c.4714+89C>G (n.4714+89C>G)
n.264C>G
c.4677C>G (p.Ser1559=)
c.4749C>G (p.Ser1583=)
3g.38554286G>TCA433134485SCN5Ac.4803C>A (p.Ser1601=)
c.4806C>A (p.Ser1602=)
c.4752C>A (p.Ser1584=)
c.4644C>A (p.Ser1548=)
c.4714+89C>A (n.4714+89C>A)
n.264C>A
c.4677C>A (p.Ser1559=)
c.4749C>A (p.Ser1583=)
3g.38554287G>ACA352143583SCN5Ac.4802C>T (p.Ser1601Phe)
c.4805C>T (p.Ser1602Phe)
c.4751C>T (p.Ser1584Phe)
c.4643C>T (p.Ser1548Phe)
c.4714+88C>T (n.4714+88C>T)
n.263C>T
c.4676C>T (p.Ser1559Phe)
c.4748C>T (p.Ser1583Phe)
 gnomAD v4
3g.38554287G>CCA352143584SCN5Ac.4802C>G (p.Ser1601Cys)
c.4805C>G (p.Ser1602Cys)
c.4751C>G (p.Ser1584Cys)
c.4643C>G (p.Ser1548Cys)
c.4714+88C>G (n.4714+88C>G)
n.263C>G
c.4676C>G (p.Ser1559Cys)
c.4748C>G (p.Ser1583Cys)
3g.38554287G>TCA352143585SCN5Ac.4802C>A (p.Ser1601Tyr)
c.4805C>A (p.Ser1602Tyr)
c.4751C>A (p.Ser1584Tyr)
c.4643C>A (p.Ser1548Tyr)
c.4714+88C>A (n.4714+88C>A)
n.263C>A
c.4676C>A (p.Ser1559Tyr)
c.4748C>A (p.Ser1583Tyr)
3g.38554288A>CCA352143586SCN5Ac.4801T>G (p.Ser1601Ala)
c.4804T>G (p.Ser1602Ala)
c.4750T>G (p.Ser1584Ala)
c.4642T>G (p.Ser1548Ala)
c.4714+87T>G (n.4714+87T>G)
n.262T>G
c.4675T>G (p.Ser1559Ala)
c.4747T>G (p.Ser1583Ala)
3g.38554288A>GCA352143587SCN5Ac.4801T>C (p.Ser1601Pro)
c.4804T>C (p.Ser1602Pro)
c.4750T>C (p.Ser1584Pro)
c.4642T>C (p.Ser1548Pro)
c.4714+87T>C (n.4714+87T>C)
n.262T>C
c.4675T>C (p.Ser1559Pro)
c.4747T>C (p.Ser1583Pro)
3g.38554288A>TCA352143588SCN5Ac.4801T>A (p.Ser1601Thr)
c.4804T>A (p.Ser1602Thr)
c.4750T>A (p.Ser1584Thr)
c.4642T>A (p.Ser1548Thr)
c.4714+87T>A (n.4714+87T>A)
n.262T>A
c.4675T>A (p.Ser1559Thr)
c.4747T>A (p.Ser1583Thr)
3g.38554289G>ACA433134488SCN5Ac.4800C>T (p.Leu1600=)
c.4803C>T (p.Leu1601=)
c.4749C>T (p.Leu1583=)
c.4641C>T (p.Leu1547=)
c.4714+86C>T (n.4714+86C>T)
n.261C>T
c.4674C>T (p.Leu1558=)
c.4746C>T (p.Leu1582=)
3g.38554289G>CCA433134489SCN5Ac.4800C>G (p.Leu1600=)
c.4803C>G (p.Leu1601=)
c.4749C>G (p.Leu1583=)
c.4641C>G (p.Leu1547=)
c.4714+86C>G (n.4714+86C>G)
n.261C>G
c.4674C>G (p.Leu1558=)
c.4746C>G (p.Leu1582=)
3g.38554289G>TCA433134490SCN5Ac.4800C>A (p.Leu1600=)
c.4803C>A (p.Leu1601=)
c.4749C>A (p.Leu1583=)
c.4641C>A (p.Leu1547=)
c.4714+86C>A (n.4714+86C>A)
n.261C>A
c.4674C>A (p.Leu1558=)
c.4746C>A (p.Leu1582=)
3g.38554290A=CA1358563043SCN5Ac.4799T= (p.Leu1600=)
c.4802T= (p.Leu1601=)
c.4748T= (p.Leu1583=)
c.4640T= (p.Leu1547=)
c.4714+85T= (n.4714+85T=)
n.260T=
c.4673T= (p.Leu1558=)
c.4745T= (p.Leu1582=)
3g.38554290A>CCA352143589SCN5Ac.4799T>G (p.Leu1600Arg)
c.4802T>G (p.Leu1601Arg)
c.4748T>G (p.Leu1583Arg)
c.4640T>G (p.Leu1547Arg)
c.4714+85T>G (n.4714+85T>G)
n.260T>G
c.4673T>G (p.Leu1558Arg)
c.4745T>G (p.Leu1582Arg)
3g.38554290A>GCA352143590SCN5Ac.4799T>C (p.Leu1600Pro)
c.4802T>C (p.Leu1601Pro)
c.4748T>C (p.Leu1583Pro)
c.4640T>C (p.Leu1547Pro)
c.4714+85T>C (n.4714+85T>C)
n.260T>C
c.4673T>C (p.Leu1558Pro)
c.4745T>C (p.Leu1582Pro)
3g.38554290A>TCA352143591SCN5Ac.4799T>A (p.Leu1600His)
c.4802T>A (p.Leu1601His)
c.4748T>A (p.Leu1583His)
c.4640T>A (p.Leu1547His)
c.4714+85T>A (n.4714+85T>A)
n.260T>A
c.4673T>A (p.Leu1558His)
c.4745T>A (p.Leu1582His)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554291G>ACA352143593SCN5Ac.4798C>T (p.Leu1600Phe)
c.4801C>T (p.Leu1601Phe)
c.4747C>T (p.Leu1583Phe)
c.4639C>T (p.Leu1547Phe)
c.4714+84C>T (n.4714+84C>T)
n.259C>T
c.4672C>T (p.Leu1558Phe)
c.4744C>T (p.Leu1582Phe)
 gnomAD v4
3g.38554291G>CCA352143594SCN5Ac.4798C>G (p.Leu1600Val)
c.4801C>G (p.Leu1601Val)
c.4747C>G (p.Leu1583Val)
c.4639C>G (p.Leu1547Val)
c.4714+84C>G (n.4714+84C>G)
n.259C>G
c.4672C>G (p.Leu1558Val)
c.4744C>G (p.Leu1582Val)
3g.38554291G>TCA352143592SCN5Ac.4798C>A (p.Leu1600Ile)
c.4801C>A (p.Leu1601Ile)
c.4747C>A (p.Leu1583Ile)
c.4639C>A (p.Leu1547Ile)
c.4714+84C>A (n.4714+84C>A)
n.259C>A
c.4672C>A (p.Leu1558Ile)
c.4744C>A (p.Leu1582Ile)
3g.38554292G>ACA433134491SCN5Ac.4797C>T (p.Ile1599=)
c.4800C>T (p.Ile1600=)
c.4746C>T (p.Ile1582=)
c.4638C>T (p.Ile1546=)
c.4714+83C>T (n.4714+83C>T)
n.258C>T
c.4671C>T (p.Ile1557=)
c.4743C>T (p.Ile1581=)
3g.38554292G>CCA352143595SCN5Ac.4797C>G (p.Ile1599Met)
c.4800C>G (p.Ile1600Met)
c.4746C>G (p.Ile1582Met)
c.4638C>G (p.Ile1546Met)
c.4714+83C>G (n.4714+83C>G)
n.258C>G
c.4671C>G (p.Ile1557Met)
c.4743C>G (p.Ile1581Met)
3g.38554292G>TCA433134492SCN5Ac.4797C>A (p.Ile1599=)
c.4800C>A (p.Ile1600=)
c.4746C>A (p.Ile1582=)
c.4638C>A (p.Ile1546=)
c.4714+83C>A (n.4714+83C>A)
n.258C>A
c.4671C>A (p.Ile1557=)
c.4743C>A (p.Ile1581=)
3g.38554292_38554293insTCA2665110222SCN5Ac.4796_4797insA (p.Leu1600ProfsTer?)
c.4799_4800insA (p.Leu1601ProfsTer?)
c.4745_4746insA (p.Leu1583ProfsTer?)
c.4637_4638insA (p.Leu1547ProfsTer?)
c.4714+82_4714+83insA (n.4714+82_4714+83insA)
n.257_258insA
c.4670_4671insA (p.Leu1558ProfsTer?)
c.4742_4743insA (p.Leu1582ProfsTer?)
 gnomAD v4
3g.38554293A>CCA352143596SCN5Ac.4796T>G (p.Ile1599Ser)
c.4799T>G (p.Ile1600Ser)
c.4745T>G (p.Ile1582Ser)
c.4637T>G (p.Ile1546Ser)
c.4714+82T>G (n.4714+82T>G)
n.257T>G
c.4670T>G (p.Ile1557Ser)
c.4742T>G (p.Ile1581Ser)
3g.38554293A>GCA352143597SCN5Ac.4796T>C (p.Ile1599Thr)
c.4799T>C (p.Ile1600Thr)
c.4745T>C (p.Ile1582Thr)
c.4637T>C (p.Ile1546Thr)
c.4714+82T>C (n.4714+82T>C)
n.257T>C
c.4670T>C (p.Ile1557Thr)
c.4742T>C (p.Ile1581Thr)
 ClinVar dbSNP
3g.38554293A>TCA352143598SCN5Ac.4796T>A (p.Ile1599Asn)
c.4799T>A (p.Ile1600Asn)
c.4745T>A (p.Ile1582Asn)
c.4637T>A (p.Ile1546Asn)
c.4714+82T>A (n.4714+82T>A)
n.257T>A
c.4670T>A (p.Ile1557Asn)
c.4742T>A (p.Ile1581Asn)
3g.38554294T>ACA352143601SCN5Ac.4795A>T (p.Ile1599Phe)
c.4798A>T (p.Ile1600Phe)
c.4744A>T (p.Ile1582Phe)
c.4636A>T (p.Ile1546Phe)
c.4714+81A>T (n.4714+81A>T)
n.256A>T
c.4669A>T (p.Ile1557Phe)
c.4741A>T (p.Ile1581Phe)
 ClinVar dbSNP
3g.38554294T>CCA352143600SCN5Ac.4795A>G (p.Ile1599Val)
c.4798A>G (p.Ile1600Val)
c.4744A>G (p.Ile1582Val)
c.4636A>G (p.Ile1546Val)
c.4714+81A>G (n.4714+81A>G)
n.256A>G
c.4669A>G (p.Ile1557Val)
c.4741A>G (p.Ile1581Val)
3g.38554294T>GCA352143599SCN5Ac.4795A>C (p.Ile1599Leu)
c.4798A>C (p.Ile1600Leu)
c.4744A>C (p.Ile1582Leu)
c.4636A>C (p.Ile1546Leu)
c.4714+81A>C (n.4714+81A>C)
n.256A>C
c.4669A>C (p.Ile1557Leu)
c.4741A>C (p.Ile1581Leu)
3g.38554295G>ACA433134493SCN5Ac.4794C>T (p.Val1598=)
c.4797C>T (p.Val1599=)
c.4743C>T (p.Val1581=)
c.4635C>T (p.Val1545=)
c.4714+80C>T (n.4714+80C>T)
n.255C>T
c.4668C>T (p.Val1556=)
c.4740C>T (p.Val1580=)
3g.38554295G>CCA433134494SCN5Ac.4794C>G (p.Val1598=)
c.4797C>G (p.Val1599=)
c.4743C>G (p.Val1581=)
c.4635C>G (p.Val1545=)
c.4714+80C>G (n.4714+80C>G)
n.255C>G
c.4668C>G (p.Val1556=)
c.4740C>G (p.Val1580=)
3g.38554295G>TCA433134495SCN5Ac.4794C>A (p.Val1598=)
c.4797C>A (p.Val1599=)
c.4743C>A (p.Val1581=)
c.4635C>A (p.Val1545=)
c.4714+80C>A (n.4714+80C>A)
n.255C>A
c.4668C>A (p.Val1556=)
c.4740C>A (p.Val1580=)
3g.38554296A>CCA352143602SCN5Ac.4793T>G (p.Val1598Gly)
c.4796T>G (p.Val1599Gly)
c.4742T>G (p.Val1581Gly)
c.4634T>G (p.Val1545Gly)
c.4714+79T>G (n.4714+79T>G)
n.254T>G
c.4667T>G (p.Val1556Gly)
c.4739T>G (p.Val1580Gly)
3g.38554296A>GCA352143603SCN5Ac.4793T>C (p.Val1598Ala)
c.4796T>C (p.Val1599Ala)
c.4742T>C (p.Val1581Ala)
c.4634T>C (p.Val1545Ala)
c.4714+79T>C (n.4714+79T>C)
n.254T>C
c.4667T>C (p.Val1556Ala)
c.4739T>C (p.Val1580Ala)
3g.38554296A>TCA352143604SCN5Ac.4793T>A (p.Val1598Asp)
c.4796T>A (p.Val1599Asp)
c.4742T>A (p.Val1581Asp)
c.4634T>A (p.Val1545Asp)
c.4714+79T>A (n.4714+79T>A)
n.254T>A
c.4667T>A (p.Val1556Asp)
c.4739T>A (p.Val1580Asp)
3g.38554297C>ACA352143605SCN5Ac.4792G>T (p.Val1598Phe)
c.4795G>T (p.Val1599Phe)
c.4741G>T (p.Val1581Phe)
c.4633G>T (p.Val1545Phe)
c.4714+78G>T (n.4714+78G>T)
n.253G>T
c.4666G>T (p.Val1556Phe)
c.4738G>T (p.Val1580Phe)
3g.38554297C>GCA352143606SCN5Ac.4792G>C (p.Val1598Leu)
c.4795G>C (p.Val1599Leu)
c.4741G>C (p.Val1581Leu)
c.4633G>C (p.Val1545Leu)
c.4714+78G>C (n.4714+78G>C)
n.253G>C
c.4666G>C (p.Val1556Leu)
c.4738G>C (p.Val1580Leu)
 gnomAD v4
3g.38554297C>TCA352143607SCN5Ac.4792G>A (p.Val1598Ile)
c.4795G>A (p.Val1599Ile)
c.4741G>A (p.Val1581Ile)
c.4633G>A (p.Val1545Ile)
c.4714+78G>A (n.4714+78G>A)
n.253G>A
c.4666G>A (p.Val1556Ile)
c.4738G>A (p.Val1580Ile)
 ClinVar dbSNP gnomAD v4
3g.38554298A>CCA433134499SCN5Ac.4791T>G (p.Val1597=)
c.4794T>G (p.Val1598=)
c.4740T>G (p.Val1580=)
c.4632T>G (p.Val1544=)
c.4714+77T>G (n.4714+77T>G)
n.252T>G
c.4665T>G (p.Val1555=)
c.4737T>G (p.Val1579=)
3g.38554298A>GCA433134501SCN5Ac.4791T>C (p.Val1597=)
c.4794T>C (p.Val1598=)
c.4740T>C (p.Val1580=)
c.4632T>C (p.Val1544=)
c.4714+77T>C (n.4714+77T>C)
n.252T>C
c.4665T>C (p.Val1555=)
c.4737T>C (p.Val1579=)
 gnomAD v4
3g.38554298A>TCA433134502SCN5Ac.4791T>A (p.Val1597=)
c.4794T>A (p.Val1598=)
c.4740T>A (p.Val1580=)
c.4632T>A (p.Val1544=)
c.4714+77T>A (n.4714+77T>A)
n.252T>A
c.4665T>A (p.Val1555=)
c.4737T>A (p.Val1579=)
3g.38554299A=CA1358563045SCN5Ac.4790T= (p.Val1597=)
c.4793T= (p.Val1598=)
c.4739T= (p.Val1580=)
c.4631T= (p.Val1544=)
c.4714+76T= (n.4714+76T=)
n.251T=
c.4664T= (p.Val1555=)
c.4736T= (p.Val1579=)
3g.38554299A>CCA352143608SCN5Ac.4790T>G (p.Val1597Gly)
c.4793T>G (p.Val1598Gly)
c.4739T>G (p.Val1580Gly)
c.4631T>G (p.Val1544Gly)
c.4714+76T>G (n.4714+76T>G)
n.251T>G
c.4664T>G (p.Val1555Gly)
c.4736T>G (p.Val1579Gly)
3g.38554299A>GCA063636SCN5Ac.4790T>C (p.Val1597Ala)
c.4793T>C (p.Val1598Ala)
c.4739T>C (p.Val1580Ala)
c.4631T>C (p.Val1544Ala)
c.4714+76T>C (n.4714+76T>C)
n.251T>C
c.4664T>C (p.Val1555Ala)
c.4736T>C (p.Val1579Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
3g.38554299A>TCA352143609SCN5Ac.4790T>A (p.Val1597Asp)
c.4793T>A (p.Val1598Asp)
c.4739T>A (p.Val1580Asp)
c.4631T>A (p.Val1544Asp)
c.4714+76T>A (n.4714+76T>A)
n.251T>A
c.4664T>A (p.Val1555Asp)
c.4736T>A (p.Val1579Asp)
3g.38554300C>ACA352143610SCN5Ac.4789G>T (p.Val1597Phe)
c.4792G>T (p.Val1598Phe)
c.4738G>T (p.Val1580Phe)
c.4630G>T (p.Val1544Phe)
c.4714+75G>T (n.4714+75G>T)
n.250G>T
c.4663G>T (p.Val1555Phe)
c.4735G>T (p.Val1579Phe)
3g.38554300C>GCA352143612SCN5Ac.4789G>C (p.Val1597Leu)
c.4792G>C (p.Val1598Leu)
c.4738G>C (p.Val1580Leu)
c.4630G>C (p.Val1544Leu)
c.4714+75G>C (n.4714+75G>C)
n.250G>C
c.4663G>C (p.Val1555Leu)
c.4735G>C (p.Val1579Leu)
3g.38554300C>TCA352143611SCN5Ac.4789G>A (p.Val1597Ile)
c.4792G>A (p.Val1598Ile)
c.4738G>A (p.Val1580Ile)
c.4630G>A (p.Val1544Ile)
c.4714+75G>A (n.4714+75G>A)
n.250G>A
c.4663G>A (p.Val1555Ile)
c.4735G>A (p.Val1579Ile)
3g.38554301C>ACA433134507SCN5Ac.4788G>T (p.Val1596=)
c.4791G>T (p.Val1597=)
c.4737G>T (p.Val1579=)
c.4629G>T (p.Val1543=)
c.4714+74G>T (n.4714+74G>T)
n.249G>T
c.4662G>T (p.Val1554=)
c.4734G>T (p.Val1578=)
3g.38554301C>GCA433134504SCN5Ac.4788G>C (p.Val1596=)
c.4791G>C (p.Val1597=)
c.4737G>C (p.Val1579=)
c.4629G>C (p.Val1543=)
c.4714+74G>C (n.4714+74G>C)
n.249G>C
c.4662G>C (p.Val1554=)
c.4734G>C (p.Val1578=)
3g.38554301C>TCA433134506SCN5Ac.4788G>A (p.Val1596=)
c.4791G>A (p.Val1597=)
c.4737G>A (p.Val1579=)
c.4629G>A (p.Val1543=)
c.4714+74G>A (n.4714+74G>A)
n.249G>A
c.4662G>A (p.Val1554=)
c.4734G>A (p.Val1578=)
 gnomAD v4
3g.38554302A=CA1358563047SCN5Ac.4787T= (p.Val1596=)
c.4790T= (p.Val1597=)
c.4736T= (p.Val1579=)
c.4628T= (p.Val1543=)
c.4714+73T= (n.4714+73T=)
n.248T=
c.4661T= (p.Val1554=)
c.4733T= (p.Val1578=)
3g.38554302A>CCA352143613SCN5Ac.4787T>G (p.Val1596Gly)
c.4790T>G (p.Val1597Gly)
c.4736T>G (p.Val1579Gly)
c.4628T>G (p.Val1543Gly)
c.4714+73T>G (n.4714+73T>G)
n.248T>G
c.4661T>G (p.Val1554Gly)
c.4733T>G (p.Val1578Gly)
3g.38554302A>GCA72942393SCN5Ac.4787T>C (p.Val1596Ala)
c.4790T>C (p.Val1597Ala)
c.4736T>C (p.Val1579Ala)
c.4628T>C (p.Val1543Ala)
c.4714+73T>C (n.4714+73T>C)
n.248T>C
c.4661T>C (p.Val1554Ala)
c.4733T>C (p.Val1578Ala)
 ClinVar dbSNP
3g.38554302A>TCA352143614SCN5Ac.4787T>A (p.Val1596Glu)
c.4790T>A (p.Val1597Glu)
c.4736T>A (p.Val1579Glu)
c.4628T>A (p.Val1543Glu)
c.4714+73T>A (n.4714+73T>A)
n.248T>A
c.4661T>A (p.Val1554Glu)
c.4733T>A (p.Val1578Glu)
3g.38554303C>ACA352143615SCN5Ac.4786G>T (p.Val1596Leu)
c.4789G>T (p.Val1597Leu)
c.4735G>T (p.Val1579Leu)
c.4627G>T (p.Val1543Leu)
c.4714+72G>T (n.4714+72G>T)
n.247G>T
c.4660G>T (p.Val1554Leu)
c.4732G>T (p.Val1578Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
3g.38554303C=CA1358563050SCN5Ac.4786G= (p.Val1596=)
c.4789G= (p.Val1597=)
c.4735G= (p.Val1579=)
c.4627G= (p.Val1543=)
c.4714+72G= (n.4714+72G=)
n.247G=
c.4660G= (p.Val1554=)
c.4732G= (p.Val1578=)
3g.38554303C>GCA352143616SCN5Ac.4786G>C (p.Val1596Leu)
c.4789G>C (p.Val1597Leu)
c.4735G>C (p.Val1579Leu)
c.4627G>C (p.Val1543Leu)
c.4714+72G>C (n.4714+72G>C)
n.247G>C
c.4660G>C (p.Val1554Leu)
c.4732G>C (p.Val1578Leu)
 dbSNP
3g.38554303C>TCA018571SCN5Ac.4786G>A (p.Val1596Met)
c.4789G>A (p.Val1597Met)
c.4735G>A (p.Val1579Met)
c.4627G>A (p.Val1543Met)
c.4714+72G>A (n.4714+72G>A)
n.247G>A
c.4660G>A (p.Val1554Met)
c.4732G>A (p.Val1578Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554304G>ACA063620SCN5Ac.4785C>T (p.Phe1595=)
c.4788C>T (p.Phe1596=)
c.4734C>T (p.Phe1578=)
c.4626C>T (p.Phe1542=)
c.4714+71C>T (n.4714+71C>T)
n.246C>T
c.4659C>T (p.Phe1553=)
c.4731C>T (p.Phe1577=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC
3g.38554304G>CCA352143617SCN5Ac.4785C>G (p.Phe1595Leu)
c.4788C>G (p.Phe1596Leu)
c.4734C>G (p.Phe1578Leu)
c.4626C>G (p.Phe1542Leu)
c.4714+71C>G (n.4714+71C>G)
n.246C>G
c.4659C>G (p.Phe1553Leu)
c.4731C>G (p.Phe1577Leu)
3g.38554304G=CA1358563058SCN5Ac.4785C= (p.Phe1595=)
c.4788C= (p.Phe1596=)
c.4734C= (p.Phe1578=)
c.4626C= (p.Phe1542=)
c.4714+71C= (n.4714+71C=)
n.246C=
c.4659C= (p.Phe1553=)
c.4731C= (p.Phe1577=)
3g.38554304G>TCA352143618SCN5Ac.4785C>A (p.Phe1595Leu)
c.4788C>A (p.Phe1596Leu)
c.4734C>A (p.Phe1578Leu)
c.4626C>A (p.Phe1542Leu)
c.4714+71C>A (n.4714+71C>A)
n.246C>A
c.4659C>A (p.Phe1553Leu)
c.4731C>A (p.Phe1577Leu)
 gnomAD v4
3g.38554305A=CA1358563067SCN5Ac.4784T= (p.Phe1595=)
c.4787T= (p.Phe1596=)
c.4733T= (p.Phe1578=)
c.4625T= (p.Phe1542=)
c.4714+70T= (n.4714+70T=)
n.245T=
c.4658T= (p.Phe1553=)
c.4730T= (p.Phe1577=)
3g.38554305A>CCA063609SCN5Ac.4784T>G (p.Phe1595Cys)
c.4787T>G (p.Phe1596Cys)
c.4733T>G (p.Phe1578Cys)
c.4625T>G (p.Phe1542Cys)
c.4714+70T>G (n.4714+70T>G)
n.245T>G
c.4658T>G (p.Phe1553Cys)
c.4730T>G (p.Phe1577Cys)
 dbSNP ExAC gnomAD v2
3g.38554305A>GCA352143619SCN5Ac.4784T>C (p.Phe1595Ser)
c.4787T>C (p.Phe1596Ser)
c.4733T>C (p.Phe1578Ser)
c.4625T>C (p.Phe1542Ser)
c.4714+70T>C (n.4714+70T>C)
n.245T>C
c.4658T>C (p.Phe1553Ser)
c.4730T>C (p.Phe1577Ser)
3g.38554305A>TCA352143620SCN5Ac.4784T>A (p.Phe1595Tyr)
c.4787T>A (p.Phe1596Tyr)
c.4733T>A (p.Phe1578Tyr)
c.4625T>A (p.Phe1542Tyr)
c.4714+70T>A (n.4714+70T>A)
n.245T>A
c.4658T>A (p.Phe1553Tyr)
c.4730T>A (p.Phe1577Tyr)
3g.38554306A=CA1358563074SCN5Ac.4783T= (p.Phe1595=)
c.4786T= (p.Phe1596=)
c.4732T= (p.Phe1578=)
c.4624T= (p.Phe1542=)
c.4714+69T= (n.4714+69T=)
n.244T=
c.4657T= (p.Phe1553=)
c.4729T= (p.Phe1577=)
3g.38554306A>CCA352143622SCN5Ac.4783T>G (p.Phe1595Val)
c.4786T>G (p.Phe1596Val)
c.4732T>G (p.Phe1578Val)
c.4624T>G (p.Phe1542Val)
c.4714+69T>G (n.4714+69T>G)
n.244T>G
c.4657T>G (p.Phe1553Val)
c.4729T>G (p.Phe1577Val)
3g.38554306A>GCA352143621SCN5Ac.4783T>C (p.Phe1595Leu)
c.4786T>C (p.Phe1596Leu)
c.4732T>C (p.Phe1578Leu)
c.4624T>C (p.Phe1542Leu)
c.4714+69T>C (n.4714+69T>C)
n.244T>C
c.4657T>C (p.Phe1553Leu)
c.4729T>C (p.Phe1577Leu)
3g.38554306A>TCA018565SCN5Ac.4783T>A (p.Phe1595Ile)
c.4786T>A (p.Phe1596Ile)
c.4732T>A (p.Phe1578Ile)
c.4624T>A (p.Phe1542Ile)
c.4714+69T>A (n.4714+69T>A)
n.244T>A
c.4657T>A (p.Phe1553Ile)
c.4729T>A (p.Phe1577Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554307G>ACA433134509SCN5Ac.4782C>T (p.Asp1594=)
c.4785C>T (p.Asp1595=)
c.4731C>T (p.Asp1577=)
c.4623C>T (p.Asp1541=)
c.4714+68C>T (n.4714+68C>T)
n.243C>T
c.4656C>T (p.Asp1552=)
c.4728C>T (p.Asp1576=)
3g.38554307G>CCA352143623SCN5Ac.4782C>G (p.Asp1594Glu)
c.4785C>G (p.Asp1595Glu)
c.4731C>G (p.Asp1577Glu)
c.4623C>G (p.Asp1541Glu)
c.4714+68C>G (n.4714+68C>G)
n.243C>G
c.4656C>G (p.Asp1552Glu)
c.4728C>G (p.Asp1576Glu)
3g.38554307G>TCA352143624SCN5Ac.4782C>A (p.Asp1594Glu)
c.4785C>A (p.Asp1595Glu)
c.4731C>A (p.Asp1577Glu)
c.4623C>A (p.Asp1541Glu)
c.4714+68C>A (n.4714+68C>A)
n.243C>A
c.4656C>A (p.Asp1552Glu)
c.4728C>A (p.Asp1576Glu)
3g.38554308T>ACA352143625SCN5Ac.4781A>T (p.Asp1594Val)
c.4784A>T (p.Asp1595Val)
c.4730A>T (p.Asp1577Val)
c.4622A>T (p.Asp1541Val)
c.4714+67A>T (n.4714+67A>T)
n.242A>T
c.4655A>T (p.Asp1552Val)
c.4727A>T (p.Asp1576Val)
3g.38554308T>CCA352143626SCN5Ac.4781A>G (p.Asp1594Gly)
c.4784A>G (p.Asp1595Gly)
c.4730A>G (p.Asp1577Gly)
c.4622A>G (p.Asp1541Gly)
c.4714+67A>G (n.4714+67A>G)
n.242A>G
c.4655A>G (p.Asp1552Gly)
c.4727A>G (p.Asp1576Gly)
3g.38554308T>GCA352143627SCN5Ac.4781A>C (p.Asp1594Ala)
c.4784A>C (p.Asp1595Ala)
c.4730A>C (p.Asp1577Ala)
c.4622A>C (p.Asp1541Ala)
c.4714+67A>C (n.4714+67A>C)
n.242A>C
c.4655A>C (p.Asp1552Ala)
c.4727A>C (p.Asp1576Ala)
3g.38554309C>ACA352143628SCN5Ac.4780G>T (p.Asp1594Tyr)
c.4783G>T (p.Asp1595Tyr)
c.4729G>T (p.Asp1577Tyr)
c.4621G>T (p.Asp1541Tyr)
c.4714+66G>T (n.4714+66G>T)
n.241G>T
c.4654G>T (p.Asp1552Tyr)
c.4726G>T (p.Asp1576Tyr)
3g.38554309C=CA1358563085SCN5Ac.4780G= (p.Asp1594=)
c.4783G= (p.Asp1595=)
c.4729G= (p.Asp1577=)
c.4621G= (p.Asp1541=)
c.4714+66G= (n.4714+66G=)
n.241G=
c.4654G= (p.Asp1552=)
c.4726G= (p.Asp1576=)
3g.38554309C>GCA018558SCN5Ac.4780G>C (p.Asp1594His)
c.4783G>C (p.Asp1595His)
c.4729G>C (p.Asp1577His)
c.4621G>C (p.Asp1541His)
c.4714+66G>C (n.4714+66G>C)
n.241G>C
c.4654G>C (p.Asp1552His)
c.4726G>C (p.Asp1576His)
 ClinVar dbSNP gnomAD v4
3g.38554309C>TCA018551SCN5Ac.4780G>A (p.Asp1594Asn)
c.4783G>A (p.Asp1595Asn)
c.4729G>A (p.Asp1577Asn)
c.4621G>A (p.Asp1541Asn)
c.4714+66G>A (n.4714+66G>A)
n.241G>A
c.4654G>A (p.Asp1552Asn)
c.4726G>A (p.Asp1576Asn)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC
3g.38554310G>ACA063597SCN5Ac.4779C>T (p.Phe1593=)
c.4782C>T (p.Phe1594=)
c.4728C>T (p.Phe1576=)
c.4620C>T (p.Phe1540=)
c.4714+65C>T (n.4714+65C>T)
n.240C>T
c.4653C>T (p.Phe1551=)
c.4725C>T (p.Phe1575=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
3g.38554310G>CCA352143629SCN5Ac.4779C>G (p.Phe1593Leu)
c.4782C>G (p.Phe1594Leu)
c.4728C>G (p.Phe1576Leu)
c.4620C>G (p.Phe1540Leu)
c.4714+65C>G (n.4714+65C>G)
n.240C>G
c.4653C>G (p.Phe1551Leu)
c.4725C>G (p.Phe1575Leu)
3g.38554310G=CA1358563095SCN5Ac.4779C= (p.Phe1593=)
c.4782C= (p.Phe1594=)
c.4728C= (p.Phe1576=)
c.4620C= (p.Phe1540=)
c.4714+65C= (n.4714+65C=)
n.240C=
c.4653C= (p.Phe1551=)
c.4725C= (p.Phe1575=)
3g.38554310G>TCA352143630SCN5Ac.4779C>A (p.Phe1593Leu)
c.4782C>A (p.Phe1594Leu)
c.4728C>A (p.Phe1576Leu)
c.4620C>A (p.Phe1540Leu)
c.4714+65C>A (n.4714+65C>A)
n.240C>A
c.4653C>A (p.Phe1551Leu)
c.4725C>A (p.Phe1575Leu)
 ClinVar dbSNP
3g.38554311A=CA1358563106SCN5Ac.4778T= (p.Phe1593=)
c.4781T= (p.Phe1594=)
c.4727T= (p.Phe1576=)
c.4619T= (p.Phe1540=)
c.4714+64T= (n.4714+64T=)
n.239T=
c.4652T= (p.Phe1551=)
c.4724T= (p.Phe1575=)
3g.38554311A>CCA352143632SCN5Ac.4778T>G (p.Phe1593Cys)
c.4781T>G (p.Phe1594Cys)
c.4727T>G (p.Phe1576Cys)
c.4619T>G (p.Phe1540Cys)
c.4714+64T>G (n.4714+64T>G)
n.239T>G
c.4652T>G (p.Phe1551Cys)
c.4724T>G (p.Phe1575Cys)
3g.38554311A>GCA018543SCN5Ac.4778T>C (p.Phe1593Ser)
c.4781T>C (p.Phe1594Ser)
c.4727T>C (p.Phe1576Ser)
c.4619T>C (p.Phe1540Ser)
c.4714+64T>C (n.4714+64T>C)
n.239T>C
c.4652T>C (p.Phe1551Ser)
c.4724T>C (p.Phe1575Ser)
 ClinVar dbSNP
3g.38554311A>TCA352143631SCN5Ac.4778T>A (p.Phe1593Tyr)
c.4781T>A (p.Phe1594Tyr)
c.4727T>A (p.Phe1576Tyr)
c.4619T>A (p.Phe1540Tyr)
c.4714+64T>A (n.4714+64T>A)
n.239T>A
c.4652T>A (p.Phe1551Tyr)
c.4724T>A (p.Phe1575Tyr)
 gnomAD v4
3g.38554312A=CA1358563112SCN5Ac.4777T= (p.Phe1593=)
c.4780T= (p.Phe1594=)
c.4726T= (p.Phe1576=)
c.4618T= (p.Phe1540=)
c.4714+63T= (n.4714+63T=)
n.238T=
c.4651T= (p.Phe1551=)
c.4723T= (p.Phe1575=)
3g.38554312A>CCA352143634SCN5Ac.4777T>G (p.Phe1593Val)
c.4780T>G (p.Phe1594Val)
c.4726T>G (p.Phe1576Val)
c.4618T>G (p.Phe1540Val)
c.4714+63T>G (n.4714+63T>G)
n.238T>G
c.4651T>G (p.Phe1551Val)
c.4723T>G (p.Phe1575Val)
3g.38554312A>GCA72942416SCN5Ac.4777T>C (p.Phe1593Leu)
c.4780T>C (p.Phe1594Leu)
c.4726T>C (p.Phe1576Leu)
c.4618T>C (p.Phe1540Leu)
c.4714+63T>C (n.4714+63T>C)
n.238T>C
c.4651T>C (p.Phe1551Leu)
c.4723T>C (p.Phe1575Leu)
 dbSNP
3g.38554312A>TCA352143633SCN5Ac.4777T>A (p.Phe1593Ile)
c.4780T>A (p.Phe1594Ile)
c.4726T>A (p.Phe1576Ile)
c.4618T>A (p.Phe1540Ile)
c.4714+63T>A (n.4714+63T>A)
n.238T>A
c.4651T>A (p.Phe1551Ile)
c.4723T>A (p.Phe1575Ile)
3g.38554313G>ACA433134514SCN5Ac.4776C>T (p.Ile1592=)
c.4779C>T (p.Ile1593=)
c.4725C>T (p.Ile1575=)
c.4617C>T (p.Ile1539=)
c.4714+62C>T (n.4714+62C>T)
n.237C>T
c.4650C>T (p.Ile1550=)
c.4722C>T (p.Ile1574=)
 ClinVar dbSNP
3g.38554313G>CCA018537SCN5Ac.4776C>G (p.Ile1592Met)
c.4779C>G (p.Ile1593Met)
c.4725C>G (p.Ile1575Met)
c.4617C>G (p.Ile1539Met)
c.4714+62C>G (n.4714+62C>G)
n.237C>G
c.4650C>G (p.Ile1550Met)
c.4722C>G (p.Ile1574Met)
 ClinVar dbSNP gnomAD v2 gnomAD v4
3g.38554313G=CA1358563116SCN5Ac.4776C= (p.Ile1592=)
c.4779C= (p.Ile1593=)
c.4725C= (p.Ile1575=)
c.4617C= (p.Ile1539=)
c.4714+62C= (n.4714+62C=)
n.237C=
c.4650C= (p.Ile1550=)
c.4722C= (p.Ile1574=)
3g.38554313G>TCA433134515SCN5Ac.4776C>A (p.Ile1592=)
c.4779C>A (p.Ile1593=)
c.4725C>A (p.Ile1575=)
c.4617C>A (p.Ile1539=)
c.4714+62C>A (n.4714+62C>A)
n.237C>A
c.4650C>A (p.Ile1550=)
c.4722C>A (p.Ile1574=)
 gnomAD v4
3g.38554314A=CA1358563119SCN5Ac.4775T= (p.Ile1592=)
c.4778T= (p.Ile1593=)
c.4724T= (p.Ile1575=)
c.4616T= (p.Ile1539=)
c.4714+61T= (n.4714+61T=)
n.236T=
c.4649T= (p.Ile1550=)
c.4721T= (p.Ile1574=)
3g.38554314A>CCA352143635SCN5Ac.4775T>G (p.Ile1592Ser)
c.4778T>G (p.Ile1593Ser)
c.4724T>G (p.Ile1575Ser)
c.4616T>G (p.Ile1539Ser)
c.4714+61T>G (n.4714+61T>G)
n.236T>G
c.4649T>G (p.Ile1550Ser)
c.4721T>G (p.Ile1574Ser)
 dbSNP
3g.38554314A>GCA352143636SCN5Ac.4775T>C (p.Ile1592Thr)
c.4778T>C (p.Ile1593Thr)
c.4724T>C (p.Ile1575Thr)
c.4616T>C (p.Ile1539Thr)
c.4714+61T>C (n.4714+61T>C)
n.236T>C
c.4649T>C (p.Ile1550Thr)
c.4721T>C (p.Ile1574Thr)
 ClinVar gnomAD v4
3g.38554314A>TCA352143637SCN5Ac.4775T>A (p.Ile1592Asn)
c.4778T>A (p.Ile1593Asn)
c.4724T>A (p.Ile1575Asn)
c.4616T>A (p.Ile1539Asn)
c.4714+61T>A (n.4714+61T>A)
n.236T>A
c.4649T>A (p.Ile1550Asn)
c.4721T>A (p.Ile1574Asn)
3g.38554315T>ACA352143640SCN5Ac.4774A>T (p.Ile1592Phe)
c.4777A>T (p.Ile1593Phe)
c.4723A>T (p.Ile1575Phe)
c.4615A>T (p.Ile1539Phe)
c.4714+60A>T (n.4714+60A>T)
n.235A>T
c.4648A>T (p.Ile1550Phe)
c.4720A>T (p.Ile1574Phe)
3g.38554315T>CCA352143638SCN5Ac.4774A>G (p.Ile1592Val)
c.4777A>G (p.Ile1593Val)
c.4723A>G (p.Ile1575Val)
c.4615A>G (p.Ile1539Val)
c.4714+60A>G (n.4714+60A>G)
n.235A>G
c.4648A>G (p.Ile1550Val)
c.4720A>G (p.Ile1574Val)
3g.38554315T>GCA352143639SCN5Ac.4774A>C (p.Ile1592Leu)
c.4777A>C (p.Ile1593Leu)
c.4723A>C (p.Ile1575Leu)
c.4615A>C (p.Ile1539Leu)
c.4714+60A>C (n.4714+60A>C)
n.235A>C
c.4648A>C (p.Ile1550Leu)
c.4720A>C (p.Ile1574Leu)
3g.38554316A>CCA352143641SCN5Ac.4773T>G (p.Asn1591Lys)
c.4776T>G (p.Asn1592Lys)
c.4722T>G (p.Asn1574Lys)
c.4614T>G (p.Asn1538Lys)
c.4714+59T>G (n.4714+59T>G)
n.234T>G
c.4647T>G (p.Asn1549Lys)
c.4719T>G (p.Asn1573Lys)
3g.38554316A>GCA433134517SCN5Ac.4773T>C (p.Asn1591=)
c.4776T>C (p.Asn1592=)
c.4722T>C (p.Asn1574=)
c.4614T>C (p.Asn1538=)
c.4714+59T>C (n.4714+59T>C)
n.234T>C
c.4647T>C (p.Asn1549=)
c.4719T>C (p.Asn1573=)
3g.38554316A>TCA352143642SCN5Ac.4773T>A (p.Asn1591Lys)
c.4776T>A (p.Asn1592Lys)
c.4722T>A (p.Asn1574Lys)
c.4614T>A (p.Asn1538Lys)
c.4714+59T>A (n.4714+59T>A)
n.234T>A
c.4647T>A (p.Asn1549Lys)
c.4719T>A (p.Asn1573Lys)
3g.38554317T>ACA352143643SCN5Ac.4772A>T (p.Asn1591Ile)
c.4775A>T (p.Asn1592Ile)
c.4721A>T (p.Asn1574Ile)
c.4613A>T (p.Asn1538Ile)
c.4714+58A>T (n.4714+58A>T)
n.233A>T
c.4646A>T (p.Asn1549Ile)
c.4718A>T (p.Asn1573Ile)
3g.38554317T>CCA352143644SCN5Ac.4772A>G (p.Asn1591Ser)
c.4775A>G (p.Asn1592Ser)
c.4721A>G (p.Asn1574Ser)
c.4613A>G (p.Asn1538Ser)
c.4714+58A>G (n.4714+58A>G)
n.233A>G
c.4646A>G (p.Asn1549Ser)
c.4718A>G (p.Asn1573Ser)
3g.38554317T>GCA352143645SCN5Ac.4772A>C (p.Asn1591Thr)
c.4775A>C (p.Asn1592Thr)
c.4721A>C (p.Asn1574Thr)
c.4613A>C (p.Asn1538Thr)
c.4714+58A>C (n.4714+58A>C)
n.233A>C
c.4646A>C (p.Asn1549Thr)
c.4718A>C (p.Asn1573Thr)
3g.38554318T>ACA352143646SCN5Ac.4771A>T (p.Asn1591Tyr)
c.4774A>T (p.Asn1592Tyr)
c.4720A>T (p.Asn1574Tyr)
c.4612A>T (p.Asn1538Tyr)
c.4714+57A>T (n.4714+57A>T)
n.232A>T
c.4645A>T (p.Asn1549Tyr)
c.4717A>T (p.Asn1573Tyr)
 ClinVar dbSNP
3g.38554318T>CCA352143648SCN5Ac.4771A>G (p.Asn1591Asp)
c.4774A>G (p.Asn1592Asp)
c.4720A>G (p.Asn1574Asp)
c.4612A>G (p.Asn1538Asp)
c.4714+57A>G (n.4714+57A>G)
n.232A>G
c.4645A>G (p.Asn1549Asp)
c.4717A>G (p.Asn1573Asp)
3g.38554318T>GCA352143647SCN5Ac.4771A>C (p.Asn1591His)
c.4774A>C (p.Asn1592His)
c.4720A>C (p.Asn1574His)
c.4612A>C (p.Asn1538His)
c.4714+57A>C (n.4714+57A>C)
n.232A>C
c.4645A>C (p.Asn1549His)
c.4717A>C (p.Asn1573His)
3g.38554318T=CA1358563124SCN5Ac.4771A= (p.Asn1591=)
c.4774A= (p.Asn1592=)
c.4720A= (p.Asn1574=)
c.4612A= (p.Asn1538=)
c.4714+57A= (n.4714+57A=)
n.232A=
c.4645A= (p.Asn1549=)
c.4717A= (p.Asn1573=)
3g.38554319C>ACA352143649SCN5Ac.4770G>T (p.Trp1590Cys)
c.4773G>T (p.Trp1591Cys)
c.4719G>T (p.Trp1573Cys)
c.4611G>T (p.Trp1537Cys)
c.4714+56G>T (n.4714+56G>T)
n.231G>T
c.4644G>T (p.Trp1548Cys)
c.4716G>T (p.Trp1572Cys)
3g.38554319C=CA1358563129SCN5Ac.4770G= (p.Trp1590=)
c.4773G= (p.Trp1591=)
c.4719G= (p.Trp1573=)
c.4611G= (p.Trp1537=)
c.4714+56G= (n.4714+56G=)
n.231G=
c.4644G= (p.Trp1548=)
c.4716G= (p.Trp1572=)
3g.38554319C>GCA352143650SCN5Ac.4770G>C (p.Trp1590Cys)
c.4773G>C (p.Trp1591Cys)
c.4719G>C (p.Trp1573Cys)
c.4611G>C (p.Trp1537Cys)
c.4714+56G>C (n.4714+56G>C)
n.231G>C
c.4644G>C (p.Trp1548Cys)
c.4716G>C (p.Trp1572Cys)
3g.38554319C>TCA72942418SCN5Ac.4770G>A (p.Trp1590Ter)
c.4773G>A (p.Trp1591Ter)
c.4719G>A (p.Trp1573Ter)
c.4611G>A (p.Trp1537Ter)
c.4714+56G>A (n.4714+56G>A)
n.231G>A
c.4644G>A (p.Trp1548Ter)
c.4716G>A (p.Trp1572Ter)
 ClinVar dbSNP
3g.38554320C>ACA352143651SCN5Ac.4769G>T (p.Trp1590Leu)
c.4772G>T (p.Trp1591Leu)
c.4718G>T (p.Trp1573Leu)
c.4610G>T (p.Trp1537Leu)
c.4714+55G>T (n.4714+55G>T)
n.230G>T
c.4643G>T (p.Trp1548Leu)
c.4715G>T (p.Trp1572Leu)
3g.38554320C=CA1358563137SCN5Ac.4769G= (p.Trp1590=)
c.4772G= (p.Trp1591=)
c.4718G= (p.Trp1573=)
c.4610G= (p.Trp1537=)
c.4714+55G= (n.4714+55G=)
n.230G=
c.4643G= (p.Trp1548=)
c.4715G= (p.Trp1572=)
3g.38554320C>GCA352143653SCN5Ac.4769G>C (p.Trp1590Ser)
c.4772G>C (p.Trp1591Ser)
c.4718G>C (p.Trp1573Ser)
c.4610G>C (p.Trp1537Ser)
c.4714+55G>C (n.4714+55G>C)
n.230G>C
c.4643G>C (p.Trp1548Ser)
c.4715G>C (p.Trp1572Ser)
3g.38554320C>TCA279603SCN5Ac.4769G>A (p.Trp1590Ter)
c.4772G>A (p.Trp1591Ter)
c.4718G>A (p.Trp1573Ter)
c.4610G>A (p.Trp1537Ter)
c.4714+55G>A (n.4714+55G>A)
n.230G>A
c.4643G>A (p.Trp1548Ter)
c.4715G>A (p.Trp1572Ter)
 ClinVar dbSNP COSMIC COSMIC COSMIC
3g.38554321A>CCA352143655SCN5Ac.4768T>G (p.Trp1590Gly)
c.4771T>G (p.Trp1591Gly)
c.4717T>G (p.Trp1573Gly)
c.4609T>G (p.Trp1537Gly)
c.4714+54T>G (n.4714+54T>G)
n.229T>G
c.4642T>G (p.Trp1548Gly)
c.4714T>G (p.Trp1572Gly)
3g.38554321A>GCA352143656SCN5Ac.4768T>C (p.Trp1590Arg)
c.4771T>C (p.Trp1591Arg)
c.4717T>C (p.Trp1573Arg)
c.4609T>C (p.Trp1537Arg)
c.4714+54T>C (n.4714+54T>C)
n.229T>C
c.4642T>C (p.Trp1548Arg)
c.4714T>C (p.Trp1572Arg)
3g.38554321A>TCA352143657SCN5Ac.4768T>A (p.Trp1590Arg)
c.4771T>A (p.Trp1591Arg)
c.4717T>A (p.Trp1573Arg)
c.4609T>A (p.Trp1537Arg)
c.4714+54T>A (n.4714+54T>A)
n.229T>A
c.4642T>A (p.Trp1548Arg)
c.4714T>A (p.Trp1572Arg)
3g.38554322G>ACA433134520SCN5Ac.4767C>T (p.Ser1589=)
c.4770C>T (p.Ser1590=)
c.4716C>T (p.Ser1572=)
c.4608C>T (p.Ser1536=)
c.4714+53C>T (n.4714+53C>T)
n.228C>T
c.4641C>T (p.Ser1547=)
c.4713C>T (p.Ser1571=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
3g.38554322G>CCA352143658SCN5Ac.4767C>G (p.Ser1589Arg)
c.4770C>G (p.Ser1590Arg)
c.4716C>G (p.Ser1572Arg)
c.4608C>G (p.Ser1536Arg)
c.4714+53C>G (n.4714+53C>G)
n.228C>G
c.4641C>G (p.Ser1547Arg)
c.4713C>G (p.Ser1571Arg)
3g.38554322G=CA1358563144SCN5Ac.4767C= (p.Ser1589=)
c.4770C= (p.Ser1590=)
c.4716C= (p.Ser1572=)
c.4608C= (p.Ser1536=)
c.4714+53C= (n.4714+53C=)
n.228C=
c.4641C= (p.Ser1547=)
c.4713C= (p.Ser1571=)
3g.38554322G>TCA352143659SCN5Ac.4767C>A (p.Ser1589Arg)
c.4770C>A (p.Ser1590Arg)
c.4716C>A (p.Ser1572Arg)
c.4608C>A (p.Ser1536Arg)
c.4714+53C>A (n.4714+53C>A)
n.228C>A
c.4641C>A (p.Ser1547Arg)
c.4713C>A (p.Ser1571Arg)
3g.38554323C>ACA352143661SCN5Ac.4766G>T (p.Ser1589Ile)
c.4769G>T (p.Ser1590Ile)
c.4715G>T (p.Ser1572Ile)
c.4607G>T (p.Ser1536Ile)
c.4714+52G>T (n.4714+52G>T)
n.227G>T
c.4640G>T (p.Ser1547Ile)
c.4712G>T (p.Ser1571Ile)
3g.38554323C>GCA352143662SCN5Ac.4766G>C (p.Ser1589Thr)
c.4769G>C (p.Ser1590Thr)
c.4715G>C (p.Ser1572Thr)
c.4607G>C (p.Ser1536Thr)
c.4714+52G>C (n.4714+52G>C)
n.227G>C
c.4640G>C (p.Ser1547Thr)
c.4712G>C (p.Ser1571Thr)
3g.38554323C>TCA352143660SCN5Ac.4766G>A (p.Ser1589Asn)
c.4769G>A (p.Ser1590Asn)
c.4715G>A (p.Ser1572Asn)
c.4607G>A (p.Ser1536Asn)
c.4714+52G>A (n.4714+52G>A)
n.227G>A
c.4640G>A (p.Ser1547Asn)
c.4712G>A (p.Ser1571Asn)
 COSMIC COSMIC COSMIC
3g.38554324T>ACA352143663SCN5Ac.4765A>T (p.Ser1589Cys)
c.4768A>T (p.Ser1590Cys)
c.4714A>T (p.Ser1572Cys)
c.4606A>T (p.Ser1536Cys)
c.4714+51A>T (n.4714+51A>T)
n.226A>T
c.4639A>T (p.Ser1547Cys)
c.4711A>T (p.Ser1571Cys)
3g.38554324T>CCA352143665SCN5Ac.4765A>G (p.Ser1589Gly)
c.4768A>G (p.Ser1590Gly)
c.4714A>G (p.Ser1572Gly)
c.4606A>G (p.Ser1536Gly)
c.4714+51A>G (n.4714+51A>G)
n.226A>G
c.4639A>G (p.Ser1547Gly)
c.4711A>G (p.Ser1571Gly)
3g.38554324T>GCA352143664SCN5Ac.4765A>C (p.Ser1589Arg)
c.4768A>C (p.Ser1590Arg)
c.4714A>C (p.Ser1572Arg)
c.4606A>C (p.Ser1536Arg)
c.4714+51A>C (n.4714+51A>C)
n.226A>C
c.4639A>C (p.Ser1547Arg)
c.4711A>C (p.Ser1571Arg)
3g.38554325G>ACA433134521SCN5Ac.4764C>T (p.Asn1588=)
c.4767C>T (p.Asn1589=)
c.4713C>T (p.Asn1571=)
c.4605C>T (p.Asn1535=)
c.4714+50C>T (n.4714+50C>T)
n.225C>T
c.4638C>T (p.Asn1546=)
c.4710C>T (p.Asn1570=)
 ClinVar
3g.38554325G>CCA352143666SCN5Ac.4764C>G (p.Asn1588Lys)
c.4767C>G (p.Asn1589Lys)
c.4713C>G (p.Asn1571Lys)
c.4605C>G (p.Asn1535Lys)
c.4714+50C>G (n.4714+50C>G)
n.225C>G
c.4638C>G (p.Asn1546Lys)
c.4710C>G (p.Asn1570Lys)
3g.38554325G>TCA352143667SCN5Ac.4764C>A (p.Asn1588Lys)
c.4767C>A (p.Asn1589Lys)
c.4713C>A (p.Asn1571Lys)
c.4605C>A (p.Asn1535Lys)
c.4714+50C>A (n.4714+50C>A)
n.225C>A
c.4638C>A (p.Asn1546Lys)
c.4710C>A (p.Asn1570Lys)

Number of alleles fetched