Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38581127_38581143dup | CA1139657965 | SCN5A | c.3025_3041dup (p.Glu1015ThrfsTer?) c.2896_2912dup (p.Glu972ThrfsTer?) | ClinVar dbSNP |
3 | g.38581127_38581143del | CA2665113032 | SCN5A | c.3025_3041del (p.Tyr1009ArgfsTer15) c.2896_2912del (p.Tyr966ArgfsTer15) | ClinVar gnomAD v4 |
3 | g.38581139dup | CA2739279412 | SCN5A | c.3024dup (p.Tyr1009LeufsTer21) c.2895dup (p.Tyr966LeufsTer21) | ClinVar |
3 | g.38581139del | CA433332498 | SCN5A | c.3024del (p.Tyr1009ThrfsTer?) c.2895del (p.Tyr966ThrfsTer?) | COSMIC COSMIC COSMIC |
3 | g.38581136G>A | CA061176 | SCN5A | c.3023C>T (p.Pro1008Leu) c.2894C>T (p.Pro965Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581136G>C | CA352139810 | SCN5A | c.3023C>G (p.Pro1008Arg) c.2894C>G (p.Pro965Arg) | |
3 | g.38581136G= | CA1358574402 | SCN5A | c.3023C= (p.Pro1008=) c.2894C= (p.Pro965=) | |
3 | g.38581136G>T | CA352139811 | SCN5A | c.3023C>A (p.Pro1008His) c.2894C>A (p.Pro965His) | |
3 | g.38581136_38581149delinsGGGGTGGCAATGCA | CA1358574403 | SCN5A | c.3010_3023delinsTGCATTGCCACCCC (p.Cys1004=) c.2881_2894delinsTGCATTGCCACCCC (p.Cys961=) | |
3 | g.38581137G>A | CA016755 | SCN5A | c.3022C>T (p.Pro1008Ser) c.2893C>T (p.Pro965Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581137G>C | CA352139815 | SCN5A | c.3022C>G (p.Pro1008Ala) c.2893C>G (p.Pro965Ala) | ClinVar gnomAD v4 |
3 | g.38581137G= | CA1358574407 | SCN5A | c.3022C= (p.Pro1008=) c.2893C= (p.Pro965=) | |
3 | g.38581137G>T | CA352139817 | SCN5A | c.3022C>A (p.Pro1008Thr) c.2893C>A (p.Pro965Thr) | dbSNP gnomAD v4 |
3 | g.38581138_38581150del | CA16611470 | SCN5A | c.3010_3022del (p.Cys1004ProfsTer?) c.2881_2893del (p.Cys961ProfsTer?) | ClinVar dbSNP |
3 | g.38581138G>A | CA433332499 | SCN5A | c.3021C>T (p.Thr1007=) c.2892C>T (p.Thr964=) | |
3 | g.38581138G>C | CA433332500 | SCN5A | c.3021C>G (p.Thr1007=) c.2892C>G (p.Thr964=) | |
3 | g.38581138G>T | CA433332501 | SCN5A | c.3021C>A (p.Thr1007=) c.2892C>A (p.Thr964=) | |
3 | g.38581139G>A | CA061168 | SCN5A | c.3020C>T (p.Thr1007Ile) c.2891C>T (p.Thr964Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581139G>C | CA352139820 | SCN5A | c.3020C>G (p.Thr1007Ser) c.2891C>G (p.Thr964Ser) | |
3 | g.38581139G= | CA1358574409 | SCN5A | c.3020C= (p.Thr1007=) c.2891C= (p.Thr964=) | |
3 | g.38581139G>T | CA72926298 | SCN5A | c.3020C>A (p.Thr1007Asn) c.2891C>A (p.Thr964Asn) | ClinVar dbSNP gnomAD v2 |
3 | g.38581140del | CA2580617587 | SCN5A | c.3019del (p.Thr1007ProfsTer?) c.2890del (p.Thr964ProfsTer?) | |
3 | g.38581140T>A | CA352139824 | SCN5A | c.3019A>T (p.Thr1007Ser) c.2890A>T (p.Thr964Ser) | |
3 | g.38581140T>C | CA352139826 | SCN5A | c.3019A>G (p.Thr1007Ala) c.2890A>G (p.Thr964Ala) | |
3 | g.38581140T>G | CA352139828 | SCN5A | c.3019A>C (p.Thr1007Pro) c.2890A>C (p.Thr964Pro) | dbSNP |
3 | g.38581140T= | CA1358574411 | SCN5A | c.3019A= (p.Thr1007=) c.2890A= (p.Thr964=) | |
3 | g.38581141G>A | CA433332504 | SCN5A | c.3018C>T (p.Ala1006=) c.2889C>T (p.Ala963=) | |
3 | g.38581141G>C | CA433332503 | SCN5A | c.3018C>G (p.Ala1006=) c.2889C>G (p.Ala963=) | |
3 | g.38581141G>T | CA433332502 | SCN5A | c.3018C>A (p.Ala1006=) c.2889C>A (p.Ala963=) | |
3 | g.38581142G>A | CA352139835 | SCN5A | c.3017C>T (p.Ala1006Val) c.2888C>T (p.Ala963Val) | |
3 | g.38581142G>C | CA352139831 | SCN5A | c.3017C>G (p.Ala1006Gly) c.2888C>G (p.Ala963Gly) | |
3 | g.38581142G>T | CA352139832 | SCN5A | c.3017C>A (p.Ala1006Asp) c.2888C>A (p.Ala963Asp) | ClinVar dbSNP gnomAD v4 |
3 | g.38581143C>A | CA061161 | SCN5A | c.3016G>T (p.Ala1006Ser) c.2887G>T (p.Ala963Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581143C= | CA1358574413 | SCN5A | c.3016G= (p.Ala1006=) c.2887G= (p.Ala963=) | |
3 | g.38581143C>G | CA352139842 | SCN5A | c.3016G>C (p.Ala1006Pro) c.2887G>C (p.Ala963Pro) | |
3 | g.38581143C>T | CA352139844 | SCN5A | c.3016G>A (p.Ala1006Thr) c.2887G>A (p.Ala963Thr) | gnomAD v4 |
3 | g.38581144A>C | CA352139847 | SCN5A | c.3015T>G (p.Ile1005Met) c.2886T>G (p.Ile962Met) | |
3 | g.38581144A>G | CA433332505 | SCN5A | c.3015T>C (p.Ile1005=) c.2886T>C (p.Ile962=) | gnomAD v4 |
3 | g.38581144A>T | CA433332506 | SCN5A | c.3015T>A (p.Ile1005=) c.2886T>A (p.Ile962=) | |
3 | g.38581145A= | CA1358574415 | SCN5A | c.3014T= (p.Ile1005=) c.2885T= (p.Ile962=) | |
3 | g.38581145A>C | CA352139849 | SCN5A | c.3014T>G (p.Ile1005Ser) c.2885T>G (p.Ile962Ser) | |
3 | g.38581145A>G | CA061157 | SCN5A | c.3014T>C (p.Ile1005Thr) c.2885T>C (p.Ile962Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581145A>T | CA352139852 | SCN5A | c.3014T>A (p.Ile1005Asn) c.2885T>A (p.Ile962Asn) | gnomAD v4 |
3 | g.38581146T>A | CA352139854 | SCN5A | c.3013A>T (p.Ile1005Phe) c.2884A>T (p.Ile962Phe) | ClinVar dbSNP |
3 | g.38581146T>C | CA352139856 | SCN5A | c.3013A>G (p.Ile1005Val) c.2884A>G (p.Ile962Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581146T>G | CA352139857 | SCN5A | c.3013A>C (p.Ile1005Leu) c.2884A>C (p.Ile962Leu) | |
3 | g.38581146T= | CA1358574417 | SCN5A | c.3013A= (p.Ile1005=) c.2884A= (p.Ile962=) | |
3 | g.38581147G>A | CA433332507 | SCN5A | c.3012C>T (p.Cys1004=) c.2883C>T (p.Cys961=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581147G>C | CA352139859 | SCN5A | c.3012C>G (p.Cys1004Trp) c.2883C>G (p.Cys961Trp) | |
3 | g.38581147G= | CA1358574419 | SCN5A | c.3012C= (p.Cys1004=) c.2883C= (p.Cys961=) | |
3 | g.38581147G>T | CA352139860 | SCN5A | c.3012C>A (p.Cys1004Ter) c.2883C>A (p.Cys961Ter) | |
3 | g.38581155_38581162dup | CA2580614201 | SCN5A | c.3005_3012dup (p.Ile1005ProfsTer?) c.2876_2883dup (p.Ile962ProfsTer?) | ClinVar gnomAD v4 |
3 | g.38581155_38581162del | CA2586972017 | SCN5A | c.3005_3012del (p.Pro1002HisfsTer25) c.2876_2883del (p.Pro959HisfsTer25) | |
3 | g.38581148C>A | CA352139864 | SCN5A | c.3011G>T (p.Cys1004Phe) c.2882G>T (p.Cys961Phe) | |
3 | g.38581148C>G | CA352139866 | SCN5A | c.3011G>C (p.Cys1004Ser) c.2882G>C (p.Cys961Ser) | |
3 | g.38581148C>T | CA352139861 | SCN5A | c.3011G>A (p.Cys1004Tyr) c.2882G>A (p.Cys961Tyr) | |
3 | g.38581149A= | CA1358574423 | SCN5A | c.3010T= (p.Cys1004=) c.2881T= (p.Cys961=) | |
3 | g.38581149A>C | CA352139870 | SCN5A | c.3010T>G (p.Cys1004Gly) c.2881T>G (p.Cys961Gly) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581149A>G | CA016748 | SCN5A | c.3010T>C (p.Cys1004Arg) c.2881T>C (p.Cys961Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581149A>T | CA352139868 | SCN5A | c.3010T>A (p.Cys1004Ser) c.2881T>A (p.Cys961Ser) | |
3 | g.38581150G>A | CA433332508 | SCN5A | c.3009C>T (p.Ser1003=) c.2880C>T (p.Ser960=) | COSMIC COSMIC COSMIC |
3 | g.38581150G>C | CA352139872 | SCN5A | c.3009C>G (p.Ser1003Arg) c.2880C>G (p.Ser960Arg) | |
3 | g.38581150G>T | CA352139874 | SCN5A | c.3009C>A (p.Ser1003Arg) c.2880C>A (p.Ser960Arg) | |
3 | g.38581151C>A | CA352139876 | SCN5A | c.3008G>T (p.Ser1003Ile) c.2879G>T (p.Ser960Ile) | |
3 | g.38581151C>G | CA352139878 | SCN5A | c.3008G>C (p.Ser1003Thr) c.2879G>C (p.Ser960Thr) | |
3 | g.38581151C>T | CA352139880 | SCN5A | c.3008G>A (p.Ser1003Asn) c.2879G>A (p.Ser960Asn) | |
3 | g.38581152T>A | CA352139882 | SCN5A | c.3007A>T (p.Ser1003Cys) c.2878A>T (p.Ser960Cys) | |
3 | g.38581152T>C | CA352139884 | SCN5A | c.3007A>G (p.Ser1003Gly) c.2878A>G (p.Ser960Gly) | ClinVar |
3 | g.38581152T>G | CA352139886 | SCN5A | c.3007A>C (p.Ser1003Arg) c.2878A>C (p.Ser960Arg) | |
3 | g.38581153G>A | CA433332509 | SCN5A | c.3006C>T (p.Pro1002=) c.2877C>T (p.Pro959=) | |
3 | g.38581153G>C | CA433332510 | SCN5A | c.3006C>G (p.Pro1002=) c.2877C>G (p.Pro959=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581153G= | CA1358574425 | SCN5A | c.3006C= (p.Pro1002=) c.2877C= (p.Pro959=) | |
3 | g.38581153G>T | CA433332511 | SCN5A | c.3006C>A (p.Pro1002=) c.2877C>A (p.Pro959=) | |
3 | g.38581155del | CA2739279413 | SCN5A | c.3006del (p.Ser1003AlafsTer?) c.2877del (p.Ser960AlafsTer?) | ClinVar |
3 | g.38581154G>A | CA352139888 | SCN5A | c.3005C>T (p.Pro1002Leu) c.2876C>T (p.Pro959Leu) | dbSNP gnomAD v4 |
3 | g.38581154G>C | CA352139890 | SCN5A | c.3005C>G (p.Pro1002Arg) c.2876C>G (p.Pro959Arg) | |
3 | g.38581154G= | CA1358574427 | SCN5A | c.3005C= (p.Pro1002=) c.2876C= (p.Pro959=) | |
3 | g.38581154G>T | CA352139892 | SCN5A | c.3005C>A (p.Pro1002His) c.2876C>A (p.Pro959His) | |
3 | g.38581155G>A | CA061148 | SCN5A | c.3004C>T (p.Pro1002Ser) c.2875C>T (p.Pro959Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581155G>C | CA352139895 | SCN5A | c.3004C>G (p.Pro1002Ala) c.2875C>G (p.Pro959Ala) | |
3 | g.38581155G= | CA1358574428 | SCN5A | c.3004C= (p.Pro1002=) c.2875C= (p.Pro959=) | |
3 | g.38581155G>T | CA352139893 | SCN5A | c.3004C>A (p.Pro1002Thr) c.2875C>A (p.Pro959Thr) | |
3 | g.38581156C>A | CA433332512 | SCN5A | c.3003G>T (p.Leu1001=) c.2874G>T (p.Leu958=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581156C= | CA1358574429 | SCN5A | c.3003G= (p.Leu1001=) c.2874G= (p.Leu958=) | |
3 | g.38581156C>G | CA061143 | SCN5A | c.3003G>C (p.Leu1001=) c.2874G>C (p.Leu958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581156C>T | CA433332513 | SCN5A | c.3003G>A (p.Leu1001=) c.2874G>A (p.Leu958=) | |
3 | g.38581157A>C | CA352139898 | SCN5A | c.3002T>G (p.Leu1001Arg) c.2873T>G (p.Leu958Arg) | |
3 | g.38581157A>G | CA352139900 | SCN5A | c.3002T>C (p.Leu1001Pro) c.2873T>C (p.Leu958Pro) | |
3 | g.38581157A>T | CA352139901 | SCN5A | c.3002T>A (p.Leu1001Gln) c.2873T>A (p.Leu958Gln) | |
3 | g.38581157_38581160delinsAGCT | CA1358574430 | SCN5A | c.2999_3002delinsAGCT (p.Gln1000=) c.2870_2873delinsAGCT (p.Gln957=) | |
3 | g.38581158G>A | CA433332514 | SCN5A | c.3001C>T (p.Leu1001=) c.2872C>T (p.Leu958=) | gnomAD v4 |
3 | g.38581158G>C | CA352139903 | SCN5A | c.3001C>G (p.Leu1001Val) c.2872C>G (p.Leu958Val) | ClinVar gnomAD v4 |
3 | g.38581158G>T | CA352139905 | SCN5A | c.3001C>A (p.Leu1001Met) c.2872C>A (p.Leu958Met) | |
3 | g.38581159_38581161del | CA061128 | SCN5A | c.2999_3001del (p.Gln1000del) c.2870_2872del (p.Gln957del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581159C>A | CA352139907 | SCN5A | c.3000G>T (p.Gln1000His) c.2871G>T (p.Gln957His) | |
3 | g.38581159C= | CA1358574431 | SCN5A | c.3000G= (p.Gln1000=) c.2871G= (p.Gln957=) | |
3 | g.38581159C>G | CA352139908 | SCN5A | c.3000G>C (p.Gln1000His) c.2871G>C (p.Gln957His) | |
3 | g.38581159C>T | CA72926311 | SCN5A | c.3000G>A (p.Gln1000=) c.2871G>A (p.Gln957=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581160T>A | CA061132 | SCN5A | c.2999A>T (p.Gln1000Leu) c.2870A>T (p.Gln957Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581160T>C | CA352139913 | SCN5A | c.2999A>G (p.Gln1000Arg) c.2870A>G (p.Gln957Arg) | |
3 | g.38581160T>G | CA352139911 | SCN5A | c.2999A>C (p.Gln1000Pro) c.2870A>C (p.Gln957Pro) | |
3 | g.38581160T= | CA1358574433 | SCN5A | c.2999A= (p.Gln1000=) c.2870A= (p.Gln957=) | |
3 | g.38581161G>A | CA352139914 | SCN5A | c.2998C>T (p.Gln1000Ter) c.2869C>T (p.Gln957Ter) | ClinVar |
3 | g.38581161G>C | CA352139916 | SCN5A | c.2998C>G (p.Gln1000Glu) c.2869C>G (p.Gln957Glu) | |
3 | g.38581161G>T | CA352139918 | SCN5A | c.2998C>A (p.Gln1000Lys) c.2869C>A (p.Gln957Lys) | |
3 | g.38581162G>A | CA433332516 | SCN5A | c.2997C>T (p.Gly999=) c.2868C>T (p.Gly956=) | |
3 | g.38581162G>C | CA433332517 | SCN5A | c.2997C>G (p.Gly999=) c.2868C>G (p.Gly956=) | |
3 | g.38581162G>T | CA433332515 | SCN5A | c.2997C>A (p.Gly999=) c.2868C>A (p.Gly956=) | gnomAD v4 |
3 | g.38581163C>A | CA352139920 | SCN5A | c.2996G>T (p.Gly999Val) c.2867G>T (p.Gly956Val) | |
3 | g.38581163C= | CA1358574434 | SCN5A | c.2996G= (p.Gly999=) c.2867G= (p.Gly956=) | |
3 | g.38581163C>G | CA352139922 | SCN5A | c.2996G>C (p.Gly999Ala) c.2867G>C (p.Gly956Ala) | |
3 | g.38581163C>T | CA352139923 | SCN5A | c.2996G>A (p.Gly999Asp) c.2867G>A (p.Gly956Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581164C>A | CA352139930 | SCN5A | c.2995G>T (p.Gly999Cys) c.2866G>T (p.Gly956Cys) | COSMIC COSMIC COSMIC |
3 | g.38581164C>G | CA352139926 | SCN5A | c.2995G>C (p.Gly999Arg) c.2866G>C (p.Gly956Arg) | |
3 | g.38581164C>T | CA352139927 | SCN5A | c.2995G>A (p.Gly999Ser) c.2866G>A (p.Gly956Ser) | |
3 | g.38581165C>A | CA352139932 | SCN5A | c.2994G>T (p.Gln998His) c.2865G>T (p.Gln955His) | COSMIC COSMIC COSMIC |
3 | g.38581165C= | CA1358574436 | SCN5A | c.2994G= (p.Gln998=) c.2865G= (p.Gln955=) | |
3 | g.38581165C>G | CA352139934 | SCN5A | c.2994G>C (p.Gln998His) c.2865G>C (p.Gln955His) | |
3 | g.38581165C>T | CA433332518 | SCN5A | c.2994G>A (p.Gln998=) c.2865G>A (p.Gln955=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581166T>A | CA352139936 | SCN5A | c.2993A>T (p.Gln998Leu) c.2864A>T (p.Gln955Leu) | |
3 | g.38581166T>C | CA016741 | SCN5A | c.2993A>G (p.Gln998Arg) c.2864A>G (p.Gln955Arg) | ClinVar dbSNP |
3 | g.38581166T>G | CA352139939 | SCN5A | c.2993A>C (p.Gln998Pro) c.2864A>C (p.Gln955Pro) | dbSNP |
3 | g.38581166T= | CA1358574438 | SCN5A | c.2993A= (p.Gln998=) c.2864A= (p.Gln955=) | |
3 | g.38581167G>A | CA352139941 | SCN5A | c.2992C>T (p.Gln998Ter) c.2863C>T (p.Gln955Ter) | |
3 | g.38581167G>C | CA352139945 | SCN5A | c.2992C>G (p.Gln998Glu) c.2863C>G (p.Gln955Glu) | |
3 | g.38581167G>T | CA352139943 | SCN5A | c.2992C>A (p.Gln998Lys) c.2863C>A (p.Gln955Lys) | |
3 | g.38581168G>A | CA433332519 | SCN5A | c.2991C>T (p.Ala997=) c.2862C>T (p.Ala954=) | |
3 | g.38581168G>C | CA433332520 | SCN5A | c.2991C>G (p.Ala997=) c.2862C>G (p.Ala954=) | |
3 | g.38581168G>T | CA433332521 | SCN5A | c.2991C>A (p.Ala997=) c.2862C>A (p.Ala954=) | |
3 | g.38581169G>A | CA352139948 | SCN5A | c.2990C>T (p.Ala997Val) c.2861C>T (p.Ala954Val) | |
3 | g.38581169G>C | CA352139949 | SCN5A | c.2990C>G (p.Ala997Gly) c.2861C>G (p.Ala954Gly) | |
3 | g.38581169G= | CA1358574440 | SCN5A | c.2990C= (p.Ala997=) c.2861C= (p.Ala954=) | |
3 | g.38581169G>T | CA016729 | SCN5A | c.2990C>A (p.Ala997Asp) c.2861C>A (p.Ala954Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581170C>A | CA016718 | SCN5A | c.2989G>T (p.Ala997Ser) c.2860G>T (p.Ala954Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581170C= | CA1358574442 | SCN5A | c.2989G= (p.Ala997=) c.2860G= (p.Ala954=) | |
3 | g.38581170C>G | CA352139953 | SCN5A | c.2989G>C (p.Ala997Pro) c.2860G>C (p.Ala954Pro) | |
3 | g.38581170C>T | CA016710 | SCN5A | c.2989G>A (p.Ala997Thr) c.2860G>A (p.Ala954Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581171G>A | CA061120 | SCN5A | c.2988C>T (p.Ala996=) c.2859C>T (p.Ala953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581171G>C | CA433332522 | SCN5A | c.2988C>G (p.Ala996=) c.2859C>G (p.Ala953=) | |
3 | g.38581171G= | CA1358574443 | SCN5A | c.2988C= (p.Ala996=) c.2859C= (p.Ala953=) | |
3 | g.38581171G>T | CA433332523 | SCN5A | c.2988C>A (p.Ala996=) c.2859C>A (p.Ala953=) | |
3 | g.38581172G>A | CA352139957 | SCN5A | c.2987C>T (p.Ala996Val) c.2858C>T (p.Ala953Val) | gnomAD v4 |
3 | g.38581172G>C | CA352139958 | SCN5A | c.2987C>G (p.Ala996Gly) c.2858C>G (p.Ala953Gly) | |
3 | g.38581172G= | CA1358574446 | SCN5A | c.2987C= (p.Ala996=) c.2858C= (p.Ala953=) | |
3 | g.38581172G>T | CA352139961 | SCN5A | c.2987C>A (p.Ala996Asp) c.2858C>A (p.Ala953Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581173C>A | CA352139963 | SCN5A | c.2986G>T (p.Ala996Ser) c.2857G>T (p.Ala953Ser) | |
3 | g.38581173C= | CA1358574447 | SCN5A | c.2986G= (p.Ala996=) c.2857G= (p.Ala953=) | |
3 | g.38581173C>G | CA352139965 | SCN5A | c.2986G>C (p.Ala996Pro) c.2857G>C (p.Ala953Pro) | |
3 | g.38581173C>T | CA352139967 | SCN5A | c.2986G>A (p.Ala996Thr) c.2857G>A (p.Ala953Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581174A>C | CA433332524 | SCN5A | c.2985T>G (p.Leu995=) c.2856T>G (p.Leu952=) | |
3 | g.38581174A>G | CA433332525 | SCN5A | c.2985T>C (p.Leu995=) c.2856T>C (p.Leu952=) | |
3 | g.38581174A>T | CA433332526 | SCN5A | c.2985T>A (p.Leu995=) c.2856T>A (p.Leu952=) | |
3 | g.38581175A>C | CA352139971 | SCN5A | c.2984T>G (p.Leu995Arg) c.2855T>G (p.Leu952Arg) | |
3 | g.38581175A>G | CA352139974 | SCN5A | c.2984T>C (p.Leu995Pro) c.2855T>C (p.Leu952Pro) | |
3 | g.38581175A>T | CA352139970 | SCN5A | c.2984T>A (p.Leu995His) c.2855T>A (p.Leu952His) | |
3 | g.38581176G>A | CA061116 | SCN5A | c.2983C>T (p.Leu995Phe) c.2854C>T (p.Leu952Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581176G>C | CA352139976 | SCN5A | c.2983C>G (p.Leu995Val) c.2854C>G (p.Leu952Val) | |
3 | g.38581176G= | CA1358574449 | SCN5A | c.2983C= (p.Leu995=) c.2854C= (p.Leu952=) | |
3 | g.38581176G>T | CA352139979 | SCN5A | c.2983C>A (p.Leu995Ile) c.2854C>A (p.Leu952Ile) | |
3 | g.38581177G>A | CA433332527 | SCN5A | c.2982C>T (p.Ala994=) c.2853C>T (p.Ala951=) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581177G>C | CA433332528 | SCN5A | c.2982C>G (p.Ala994=) c.2853C>G (p.Ala951=) | |
3 | g.38581177G>T | CA433332529 | SCN5A | c.2982C>A (p.Ala994=) c.2853C>A (p.Ala951=) | ClinVar gnomAD v4 |
3 | g.38581178G>A | CA352139981 | SCN5A | c.2981C>T (p.Ala994Val) c.2852C>T (p.Ala951Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581178G>C | CA352139983 | SCN5A | c.2981C>G (p.Ala994Gly) c.2852C>G (p.Ala951Gly) | |
3 | g.38581178G= | CA1358574451 | SCN5A | c.2981C= (p.Ala994=) c.2852C= (p.Ala951=) | |
3 | g.38581178G>T | CA352139985 | SCN5A | c.2981C>A (p.Ala994Asp) c.2852C>A (p.Ala951Asp) | |
3 | g.38581179C>A | CA352139988 | SCN5A | c.2980G>T (p.Ala994Ser) c.2851G>T (p.Ala951Ser) | |
3 | g.38581179C= | CA1358574452 | SCN5A | c.2980G= (p.Ala994=) c.2851G= (p.Ala951=) | |
3 | g.38581179C>G | CA352139990 | SCN5A | c.2980G>C (p.Ala994Pro) c.2851G>C (p.Ala951Pro) | |
3 | g.38581179C>T | CA352139991 | SCN5A | c.2980G>A (p.Ala994Thr) c.2851G>A (p.Ala951Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581180T>A | CA433332530 | SCN5A | c.2979A>T (p.Ala993=) c.2850A>T (p.Ala950=) | |
3 | g.38581180T>C | CA433332531 | SCN5A | c.2979A>G (p.Ala993=) c.2850A>G (p.Ala950=) | |
3 | g.38581180T>G | CA433332532 | SCN5A | c.2979A>C (p.Ala993=) c.2850A>C (p.Ala950=) | |
3 | g.38581181G>A | CA352139994 | SCN5A | c.2978C>T (p.Ala993Val) c.2849C>T (p.Ala950Val) | |
3 | g.38581181G>C | CA352139996 | SCN5A | c.2978C>G (p.Ala993Gly) c.2849C>G (p.Ala950Gly) | |
3 | g.38581181G>T | CA352139997 | SCN5A | c.2978C>A (p.Ala993Glu) c.2849C>A (p.Ala950Glu) | gnomAD v4 |
3 | g.38581182C>A | CA352139999 | SCN5A | c.2977G>T (p.Ala993Ser) c.2848G>T (p.Ala950Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581182C= | CA1358574453 | SCN5A | c.2977G= (p.Ala993=) c.2848G= (p.Ala950=) | |
3 | g.38581182C>G | CA352140001 | SCN5A | c.2977G>C (p.Ala993Pro) c.2848G>C (p.Ala950Pro) | ClinVar |
3 | g.38581182C>T | CA061107 | SCN5A | c.2977G>A (p.Ala993Thr) c.2848G>A (p.Ala950Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>A | CA016703 | SCN5A | c.2976C>T (p.Pro992=) c.2847C>T (p.Pro949=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581183G>C | CA433332534 | SCN5A | c.2976C>G (p.Pro992=) c.2847C>G (p.Pro949=) | |
3 | g.38581183G= | CA1358574456 | SCN5A | c.2976C= (p.Pro992=) c.2847C= (p.Pro949=) | |
3 | g.38581183G>T | CA433332533 | SCN5A | c.2976C>A (p.Pro992=) c.2847C>A (p.Pro949=) | |
3 | g.38581185dup | CA2665113033 | SCN5A | c.2976dup (p.Ala993ArgfsTer?) c.2847dup (p.Ala950ArgfsTer?) | gnomAD v4 |
3 | g.38581184G>A | CA72926345 | SCN5A | c.2975C>T (p.Pro992Leu) c.2846C>T (p.Pro949Leu) | dbSNP gnomAD v4 |
3 | g.38581184G>C | CA352140006 | SCN5A | c.2975C>G (p.Pro992Arg) c.2846C>G (p.Pro949Arg) | |
3 | g.38581184G= | CA1358574458 | SCN5A | c.2975C= (p.Pro992=) c.2846C= (p.Pro949=) | |
3 | g.38581184G>T | CA352140010 | SCN5A | c.2975C>A (p.Pro992His) c.2846C>A (p.Pro949His) | gnomAD v4 |
3 | g.38581185G>A | CA352140013 | SCN5A | c.2974C>T (p.Pro992Ser) c.2845C>T (p.Pro949Ser) | |
3 | g.38581185G>C | CA352140015 | SCN5A | c.2974C>G (p.Pro992Ala) c.2845C>G (p.Pro949Ala) | |
3 | g.38581185G>T | CA352140017 | SCN5A | c.2974C>A (p.Pro992Thr) c.2845C>A (p.Pro949Thr) | ClinVar dbSNP |
3 | g.38581186C>A | CA352140019 | SCN5A | c.2973G>T (p.Lys991Asn) c.2844G>T (p.Lys948Asn) | dbSNP |
3 | g.38581186C= | CA1358574460 | SCN5A | c.2973G= (p.Lys991=) c.2844G= (p.Lys948=) | |
3 | g.38581186C>G | CA352140020 | SCN5A | c.2973G>C (p.Lys991Asn) c.2844G>C (p.Lys948Asn) | |
3 | g.38581186C>T | CA16617950 | SCN5A | c.2973G>A (p.Lys991=) c.2844G>A (p.Lys948=) | ClinVar dbSNP gnomAD v4 |
3 | g.38581187T>A | CA352140022 | SCN5A | c.2972A>T (p.Lys991Met) c.2843A>T (p.Lys948Met) | |
3 | g.38581187T>C | CA352140023 | SCN5A | c.2972A>G (p.Lys991Arg) c.2843A>G (p.Lys948Arg) | |
3 | g.38581187T>G | CA352140025 | SCN5A | c.2972A>C (p.Lys991Thr) c.2843A>C (p.Lys948Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38581187T= | CA1358574462 | SCN5A | c.2972A= (p.Lys991=) c.2843A= (p.Lys948=) | |
3 | g.38581187_38581188del | CA2825001218 | SCN5A | c.2971_2972del (p.Lys991AlafsTer?) c.2842_2843del (p.Lys948AlafsTer?) | ClinVar |
3 | g.38581188T>A | CA352140028 | SCN5A | c.2971A>T (p.Lys991Ter) c.2842A>T (p.Lys948Ter) | dbSNP |
3 | g.38581188T>C | CA061101 | SCN5A | c.2971A>G (p.Lys991Glu) c.2842A>G (p.Lys948Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581188T>G | CA352140030 | SCN5A | c.2971A>C (p.Lys991Gln) c.2842A>C (p.Lys948Gln) | |
3 | g.38581188T= | CA1358574464 | SCN5A | c.2971A= (p.Lys991=) c.2842A= (p.Lys948=) | |
3 | g.38581189C>A | CA352140035 | SCN5A | c.2970G>T (p.Gln990His) c.2841G>T (p.Gln947His) | |
3 | g.38581189C= | CA1358574465 | SCN5A | c.2970G= (p.Gln990=) c.2841G= (p.Gln947=) | |
3 | g.38581189C>G | CA352140033 | SCN5A | c.2970G>C (p.Gln990His) c.2841G>C (p.Gln947His) | |
3 | g.38581189C>T | CA061096 | SCN5A | c.2970G>A (p.Gln990=) c.2841G>A (p.Gln947=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581190T>A | CA352140037 | SCN5A | c.2969A>T (p.Gln990Leu) c.2840A>T (p.Gln947Leu) | |
3 | g.38581190T>C | CA352140039 | SCN5A | c.2969A>G (p.Gln990Arg) c.2840A>G (p.Gln947Arg) | |
3 | g.38581190T>G | CA352140041 | SCN5A | c.2969A>C (p.Gln990Pro) c.2840A>C (p.Gln947Pro) | |
3 | g.38581191G>A | CA352140043 | SCN5A | c.2968C>T (p.Gln990Ter) c.2839C>T (p.Gln947Ter) | ClinVar dbSNP |
3 | g.38581191G>C | CA352140045 | SCN5A | c.2968C>G (p.Gln990Glu) c.2839C>G (p.Gln947Glu) | |
3 | g.38581191G= | CA1358574467 | SCN5A | c.2968C= (p.Gln990=) c.2839C= (p.Gln947=) | |
3 | g.38581191G>T | CA352140047 | SCN5A | c.2968C>A (p.Gln990Lys) c.2839C>A (p.Gln947Lys) | |
3 | g.38581192A>C | CA433332535 | SCN5A | c.2967T>G (p.Pro989=) c.2838T>G (p.Pro946=) | |
3 | g.38581192A>G | CA433332536 | SCN5A | c.2967T>C (p.Pro989=) c.2838T>C (p.Pro946=) | |
3 | g.38581192A>T | CA433332537 | SCN5A | c.2967T>A (p.Pro989=) c.2838T>A (p.Pro946=) | |
3 | g.38581193G>A | CA061091 | SCN5A | c.2966C>T (p.Pro989Leu) c.2837C>T (p.Pro946Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.38581193G>C | CA352140050 | SCN5A | c.2966C>G (p.Pro989Arg) c.2837C>G (p.Pro946Arg) | |
3 | g.38581193G= | CA1358574469 | SCN5A | c.2966C= (p.Pro989=) c.2837C= (p.Pro946=) | |
3 | g.38581193G>T | CA352140052 | SCN5A | c.2966C>A (p.Pro989His) c.2837C>A (p.Pro946His) | |
3 | g.38581194G>A | CA352140054 | SCN5A | c.2965C>T (p.Pro989Ser) c.2836C>T (p.Pro946Ser) | ClinVar |
3 | g.38581194G>C | CA352140056 | SCN5A | c.2965C>G (p.Pro989Ala) c.2836C>G (p.Pro946Ala) | ClinVar dbSNP |
3 | g.38581194G= | CA1358574471 | SCN5A | c.2965C= (p.Pro989=) c.2836C= (p.Pro946=) | |
3 | g.38581194G>T | CA352140058 | SCN5A | c.2965C>A (p.Pro989Thr) c.2836C>A (p.Pro946Thr) | |
3 | g.38581195C>A | CA433332538 | SCN5A | c.2964G>T (p.Arg988=) c.2835G>T (p.Arg945=) | gnomAD v4 |
3 | g.38581195C>G | CA433332539 | SCN5A | c.2964G>C (p.Arg988=) c.2835G>C (p.Arg945=) | |
3 | g.38581195C>T | CA433332540 | SCN5A | c.2964G>A (p.Arg988=) c.2835G>A (p.Arg945=) | |
3 | g.38581196C>A | CA352140061 | SCN5A | c.2963G>T (p.Arg988Leu) c.2834G>T (p.Arg945Leu) | gnomAD v4 |
3 | g.38581196C= | CA1358574474 | SCN5A | c.2963G= (p.Arg988=) c.2834G= (p.Arg945=) | |
3 | g.38581196C>G | CA352140063 | SCN5A | c.2963G>C (p.Arg988Pro) c.2834G>C (p.Arg945Pro) | |
3 | g.38581196C>T | CA016691 | SCN5A | c.2963G>A (p.Arg988Gln) c.2834G>A (p.Arg945Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581197G>A | CA016684 | SCN5A | c.2962C>T (p.Arg988Trp) c.2833C>T (p.Arg945Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581197G>C | CA352140066 | SCN5A | c.2962C>G (p.Arg988Gly) c.2833C>G (p.Arg945Gly) | |
3 | g.38581197G= | CA1358574477 | SCN5A | c.2962C= (p.Arg988=) c.2833C= (p.Arg945=) | |
3 | g.38581197G>T | CA433332541 | SCN5A | c.2962C>A (p.Arg988=) c.2833C>A (p.Arg945=) | ClinVar dbSNP |
3 | g.38581198C>A | CA352140067 | SCN5A | c.2961G>T (p.Gln987His) c.2832G>T (p.Gln944His) | |
3 | g.38581198C= | CA1358574479 | SCN5A | c.2961G= (p.Gln987=) c.2832G= (p.Gln944=) | |
3 | g.38581198C>G | CA72926354 | SCN5A | c.2961G>C (p.Gln987His) c.2832G>C (p.Gln944His) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581198C>T | CA061074 | SCN5A | c.2961G>A (p.Gln987=) c.2832G>A (p.Gln944=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581199T>A | CA352140075 | SCN5A | c.2960A>T (p.Gln987Leu) c.2831A>T (p.Gln944Leu) | |
3 | g.38581199T>C | CA352140071 | SCN5A | c.2960A>G (p.Gln987Arg) c.2831A>G (p.Gln944Arg) | |
3 | g.38581199T>G | CA352140073 | SCN5A | c.2960A>C (p.Gln987Pro) c.2831A>C (p.Gln944Pro) | |
3 | g.38581200G>A | CA352140077 | SCN5A | c.2959C>T (p.Gln987Ter) c.2830C>T (p.Gln944Ter) | gnomAD v4 |
3 | g.38581200G>C | CA352140078 | SCN5A | c.2959C>G (p.Gln987Glu) c.2830C>G (p.Gln944Glu) | |
3 | g.38581200G>T | CA352140080 | SCN5A | c.2959C>A (p.Gln987Lys) c.2830C>A (p.Gln944Lys) | |
3 | g.38581201C>A | CA433332542 | SCN5A | c.2958G>T (p.Arg986=) c.2829G>T (p.Arg943=) | |
3 | g.38581201C>G | CA433332543 | SCN5A | c.2958G>C (p.Arg986=) c.2829G>C (p.Arg943=) | |
3 | g.38581201C>T | CA433332544 | SCN5A | c.2958G>A (p.Arg986=) c.2829G>A (p.Arg943=) | gnomAD v4 |
3 | g.38581202C>A | CA352140082 | SCN5A | c.2957G>T (p.Arg986Leu) c.2828G>T (p.Arg943Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581202C= | CA1358574480 | SCN5A | c.2957G= (p.Arg986=) c.2828G= (p.Arg943=) | |
3 | g.38581202C>G | CA352140084 | SCN5A | c.2957G>C (p.Arg986Pro) c.2828G>C (p.Arg943Pro) | |
3 | g.38581202C>T | CA016672 | SCN5A | c.2957G>A (p.Arg986Gln) c.2828G>A (p.Arg943Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581203G>A | CA016660 | SCN5A | c.2956C>T (p.Arg986Trp) c.2827C>T (p.Arg943Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581203G>C | CA352140089 | SCN5A | c.2956C>G (p.Arg986Gly) c.2827C>G (p.Arg943Gly) | |
3 | g.38581203G= | CA1358574482 | SCN5A | c.2956C= (p.Arg986=) c.2827C= (p.Arg943=) | |
3 | g.38581203G>T | CA433332545 | SCN5A | c.2956C>A (p.Arg986=) c.2827C>A (p.Arg943=) | gnomAD v4 |
3 | g.38581204C>A | CA433332546 | SCN5A | c.2955G>T (p.Leu985=) c.2826G>T (p.Leu942=) | |
3 | g.38581204C= | CA1358574484 | SCN5A | c.2955G= (p.Leu985=) c.2826G= (p.Leu942=) | |
3 | g.38581204C>G | CA433332547 | SCN5A | c.2955G>C (p.Leu985=) c.2826G>C (p.Leu942=) | |
3 | g.38581204C>T | CA061068 | SCN5A | c.2955G>A (p.Leu985=) c.2826G>A (p.Leu942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581205del | CA913188094 | SCN5A | c.2954del (p.Leu985ArgfsTer?) c.2825del (p.Leu942ArgfsTer?) | ClinVar |
3 | g.38581205A>C | CA352140092 | SCN5A | c.2954T>G (p.Leu985Arg) c.2825T>G (p.Leu942Arg) | |
3 | g.38581205A>G | CA352140094 | SCN5A | c.2954T>C (p.Leu985Pro) c.2825T>C (p.Leu942Pro) | ClinVar |
3 | g.38581205A>T | CA352140096 | SCN5A | c.2954T>A (p.Leu985Gln) c.2825T>A (p.Leu942Gln) | |
3 | g.38581207_38581209del | CA2665113034 | SCN5A | c.2952_2954del (p.Leu985del) c.2823_2825del (p.Leu942del) | gnomAD v4 |
3 | g.38581206G>A | CA061064 | SCN5A | c.2953C>T (p.Leu985=) c.2824C>T (p.Leu942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581206G>C | CA352140099 | SCN5A | c.2953C>G (p.Leu985Val) c.2824C>G (p.Leu942Val) | |
3 | g.38581206G= | CA1358574486 | SCN5A | c.2953C= (p.Leu985=) c.2824C= (p.Leu942=) | |
3 | g.38581206G>T | CA352140101 | SCN5A | c.2953C>A (p.Leu985Met) c.2824C>A (p.Leu942Met) | |
3 | g.38581207dup | CA2586972018 | SCN5A | c.2953dup (p.Leu985ProfsTer?) c.2824dup (p.Leu942ProfsTer?) | |
3 | g.38581207G>A | CA433332548 | SCN5A | c.2952C>T (p.Leu984=) c.2823C>T (p.Leu941=) | ClinVar gnomAD v4 |
3 | g.38581207G>C | CA433332549 | SCN5A | c.2952C>G (p.Leu984=) c.2823C>G (p.Leu941=) | |
3 | g.38581207G>T | CA433332550 | SCN5A | c.2952C>A (p.Leu984=) c.2823C>A (p.Leu941=) | |
3 | g.38581208A>C | CA352140104 | SCN5A | c.2951T>G (p.Leu984Arg) c.2822T>G (p.Leu941Arg) | |
3 | g.38581208A>G | CA352140107 | SCN5A | c.2951T>C (p.Leu984Pro) c.2822T>C (p.Leu941Pro) | ClinVar |
3 | g.38581208A>T | CA352140106 | SCN5A | c.2951T>A (p.Leu984His) c.2822T>A (p.Leu941His) | |
3 | g.38581211_38581220dup | CA2586972019 | SCN5A | c.2942_2951dup (p.Arg986TrpfsTer?) c.2813_2822dup (p.Arg943TrpfsTer?) | |
3 | g.38581209G>A | CA352140109 | SCN5A | c.2950C>T (p.Leu984Phe) c.2821C>T (p.Leu941Phe) | gnomAD v4 |
3 | g.38581209G>C | CA352140110 | SCN5A | c.2950C>G (p.Leu984Val) c.2821C>G (p.Leu941Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581209G= | CA1358574488 | SCN5A | c.2950C= (p.Leu984=) c.2821C= (p.Leu941=) | |
3 | g.38581209G>T | CA352140112 | SCN5A | c.2950C>A (p.Leu984Ile) c.2821C>A (p.Leu941Ile) | |
3 | g.38581210A= | CA1358574490 | SCN5A | c.2949T= (p.Gly983=) c.2820T= (p.Gly940=) | |
3 | g.38581210A>C | CA433332551 | SCN5A | c.2949T>G (p.Gly983=) c.2820T>G (p.Gly940=) | gnomAD v4 |
3 | g.38581210A>G | CA433332552 | SCN5A | c.2949T>C (p.Gly983=) c.2820T>C (p.Gly940=) | |
3 | g.38581210A>T | CA061054 | SCN5A | c.2949T>A (p.Gly983=) c.2820T>A (p.Gly940=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581210_38581211del | CA2531235771 | SCN5A | c.2948_2949del (p.Gly983AlafsTer?) c.2819_2820del (p.Gly940AlafsTer?) | |
3 | g.38581211C>A | CA352140119 | SCN5A | c.2948G>T (p.Gly983Val) c.2819G>T (p.Gly940Val) | |
3 | g.38581211C= | CA1358574492 | SCN5A | c.2948G= (p.Gly983=) c.2819G= (p.Gly940=) | |
3 | g.38581211C>G | CA352140116 | SCN5A | c.2948G>C (p.Gly983Ala) c.2819G>C (p.Gly940Ala) | |
3 | g.38581211C>T | CA061050 | SCN5A | c.2948G>A (p.Gly983Asp) c.2819G>A (p.Gly940Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581212C>A | CA352140120 | SCN5A | c.2947G>T (p.Gly983Cys) c.2818G>T (p.Gly940Cys) | |
3 | g.38581212C>G | CA352140122 | SCN5A | c.2947G>C (p.Gly983Arg) c.2818G>C (p.Gly940Arg) | |
3 | g.38581212C>T | CA352140124 | SCN5A | c.2947G>A (p.Gly983Ser) c.2818G>A (p.Gly940Ser) | |
3 | g.38581213A= | CA1358574493 | SCN5A | c.2946T= (p.Cys982=) c.2817T= (p.Cys939=) | |
3 | g.38581213A>C | CA352140125 | SCN5A | c.2946T>G (p.Cys982Trp) c.2817T>G (p.Cys939Trp) | |
3 | g.38581213A>G | CA433332553 | SCN5A | c.2946T>C (p.Cys982=) c.2817T>C (p.Cys939=) | |
3 | g.38581213A>T | CA352140126 | SCN5A | c.2946T>A (p.Cys982Ter) c.2817T>A (p.Cys939Ter) | ClinVar dbSNP |
3 | g.38581214C>A | CA352140128 | SCN5A | c.2945G>T (p.Cys982Phe) c.2816G>T (p.Cys939Phe) | |
3 | g.38581214C= | CA1358574495 | SCN5A | c.2945G= (p.Cys982=) c.2816G= (p.Cys939=) | |
3 | g.38581214C>G | CA352140130 | SCN5A | c.2945G>C (p.Cys982Ser) c.2816G>C (p.Cys939Ser) | |
3 | g.38581214C>T | CA352140132 | SCN5A | c.2945G>A (p.Cys982Tyr) c.2816G>A (p.Cys939Tyr) | ClinVar dbSNP |
3 | g.38581214_38581215insGC | CA2565886970 | SCN5A | c.2945_2946insCG (p.Gly983ValfsTer?) c.2816_2817insCG (p.Gly940ValfsTer?) | |
3 | g.38581215A= | CA1358574497 | SCN5A | c.2944T= (p.Cys982=) c.2815T= (p.Cys939=) | |
3 | g.38581215A>C | CA352140134 | SCN5A | c.2944T>G (p.Cys982Gly) c.2815T>G (p.Cys939Gly) | |
3 | g.38581215A>G | CA016652 | SCN5A | c.2944T>C (p.Cys982Arg) c.2815T>C (p.Cys939Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581215A>T | CA352140137 | SCN5A | c.2944T>A (p.Cys982Ser) c.2815T>A (p.Cys939Ser) | |
3 | g.38581216G>A | CA433332554 | SCN5A | c.2943C>T (p.Cys981=) c.2814C>T (p.Cys938=) | |
3 | g.38581216G>C | CA352140139 | SCN5A | c.2943C>G (p.Cys981Trp) c.2814C>G (p.Cys938Trp) | |
3 | g.38581216G>T | CA352140141 | SCN5A | c.2943C>A (p.Cys981Ter) c.2814C>A (p.Cys938Ter) | |
3 | g.38581217C>A | CA016644 | SCN5A | c.2942G>T (p.Cys981Phe) c.2813G>T (p.Cys938Phe) | ClinVar dbSNP |
3 | g.38581217C= | CA1358574500 | SCN5A | c.2942G= (p.Cys981=) c.2813G= (p.Cys938=) | |
3 | g.38581217C>G | CA352140145 | SCN5A | c.2942G>C (p.Cys981Ser) c.2813G>C (p.Cys938Ser) | |
3 | g.38581217C>T | CA352140144 | SCN5A | c.2942G>A (p.Cys981Tyr) c.2813G>A (p.Cys938Tyr) | gnomAD v4 |
3 | g.38581218A>C | CA352140148 | SCN5A | c.2941T>G (p.Cys981Gly) c.2812T>G (p.Cys938Gly) | |
3 | g.38581218A>G | CA352140150 | SCN5A | c.2941T>C (p.Cys981Arg) c.2812T>C (p.Cys938Arg) | |
3 | g.38581218A>T | CA352140151 | SCN5A | c.2941T>A (p.Cys981Ser) c.2812T>A (p.Cys938Ser) | |
3 | g.38581219G>A | CA433332555 | SCN5A | c.2940C>T (p.Phe980=) c.2811C>T (p.Phe937=) | |
3 | g.38581219G>C | CA352140154 | SCN5A | c.2940C>G (p.Phe980Leu) c.2811C>G (p.Phe937Leu) | |
3 | g.38581219G>T | CA352140155 | SCN5A | c.2940C>A (p.Phe980Leu) c.2811C>A (p.Phe937Leu) | |
3 | g.38581220A>C | CA352140157 | SCN5A | c.2939T>G (p.Phe980Cys) c.2810T>G (p.Phe937Cys) | |
3 | g.38581220A>G | CA352140159 | SCN5A | c.2939T>C (p.Phe980Ser) c.2810T>C (p.Phe937Ser) | |
3 | g.38581220A>T | CA352140161 | SCN5A | c.2939T>A (p.Phe980Tyr) c.2810T>A (p.Phe937Tyr) | |
3 | g.38581221A>C | CA352140163 | SCN5A | c.2938T>G (p.Phe980Val) c.2809T>G (p.Phe937Val) | |
3 | g.38581221A>G | CA352140165 | SCN5A | c.2938T>C (p.Phe980Leu) c.2809T>C (p.Phe937Leu) | |
3 | g.38581221A>T | CA352140167 | SCN5A | c.2938T>A (p.Phe980Ile) c.2809T>A (p.Phe937Ile) | |
3 | g.38581222A= | CA1358574502 | SCN5A | c.2937T= (p.Asp979=) c.2808T= (p.Asp936=) | |
3 | g.38581222A>C | CA352140169 | SCN5A | c.2937T>G (p.Asp979Glu) c.2808T>G (p.Asp936Glu) | |
3 | g.38581222A>G | CA433332556 | SCN5A | c.2937T>C (p.Asp979=) c.2808T>C (p.Asp936=) | |
3 | g.38581222A>T | CA352140171 | SCN5A | c.2937T>A (p.Asp979Glu) c.2808T>A (p.Asp936Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38581223T>A | CA352140176 | SCN5A | c.2936A>T (p.Asp979Val) c.2807A>T (p.Asp936Val) | |
3 | g.38581223T>C | CA352140173 | SCN5A | c.2936A>G (p.Asp979Gly) c.2807A>G (p.Asp936Gly) | dbSNP gnomAD v2 |
3 | g.38581223T>G | CA352140175 | SCN5A | c.2936A>C (p.Asp979Ala) c.2807A>C (p.Asp936Ala) | |
3 | g.38581223T= | CA1358574503 | SCN5A | c.2936A= (p.Asp979=) c.2807A= (p.Asp936=) | |
3 | g.38581224C>A | CA352140178 | SCN5A | c.2935G>T (p.Asp979Tyr) c.2806G>T (p.Asp936Tyr) | |
3 | g.38581224C= | CA1358574505 | SCN5A | c.2935G= (p.Asp979=) c.2806G= (p.Asp936=) | |
3 | g.38581224C>G | CA061043 | SCN5A | c.2935G>C (p.Asp979His) c.2806G>C (p.Asp936His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581224C>T | CA72926366 | SCN5A | c.2935G>A (p.Asp979Asn) c.2806G>A (p.Asp936Asn) | dbSNP |
3 | g.38581225C>A | CA352140179 | SCN5A | c.2934G>T (p.Trp978Cys) c.2805G>T (p.Trp935Cys) | |
3 | g.38581225C= | CA1358574507 | SCN5A | c.2934G= (p.Trp978=) c.2805G= (p.Trp935=) | |
3 | g.38581225C>G | CA352140180 | SCN5A | c.2934G>C (p.Trp978Cys) c.2805G>C (p.Trp935Cys) | |
3 | g.38581225C>T | CA352140182 | SCN5A | c.2934G>A (p.Trp978Ter) c.2805G>A (p.Trp935Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38581226C>A | CA352140184 | SCN5A | c.2933G>T (p.Trp978Leu) c.2804G>T (p.Trp935Leu) | |
3 | g.38581226C= | CA1358574510 | SCN5A | c.2933G= (p.Trp978=) c.2804G= (p.Trp935=) | |
3 | g.38581226C>G | CA352140186 | SCN5A | c.2933G>C (p.Trp978Ser) c.2804G>C (p.Trp935Ser) | |
3 | g.38581226C>T | CA16611275 | SCN5A | c.2933G>A (p.Trp978Ter) c.2804G>A (p.Trp935Ter) | ClinVar dbSNP |
3 | g.38581227A>C | CA352140189 | SCN5A | c.2932T>G (p.Trp978Gly) c.2803T>G (p.Trp935Gly) | |
3 | g.38581227A>G | CA352140191 | SCN5A | c.2932T>C (p.Trp978Arg) c.2803T>C (p.Trp935Arg) | |
3 | g.38581227A>T | CA352140193 | SCN5A | c.2932T>A (p.Trp978Arg) c.2803T>A (p.Trp935Arg) | |
3 | g.38581228G>A | CA433332557 | SCN5A | c.2931C>T (p.Thr977=) c.2802C>T (p.Thr934=) | |
3 | g.38581228G>C | CA061039 | SCN5A | c.2931C>G (p.Thr977=) c.2802C>G (p.Thr934=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38581228G= | CA1358574512 | SCN5A | c.2931C= (p.Thr977=) c.2802C= (p.Thr934=) | |
3 | g.38581228G>T | CA433332558 | SCN5A | c.2931C>A (p.Thr977=) c.2802C>A (p.Thr934=) | |
3 | g.38581229G>A | CA352140197 | SCN5A | c.2930C>T (p.Thr977Ile) c.2801C>T (p.Thr934Ile) | |
3 | g.38581229G>C | CA352140195 | SCN5A | c.2930C>G (p.Thr977Ser) c.2801C>G (p.Thr934Ser) | |
3 | g.38581229G>T | CA352140199 | SCN5A | c.2930C>A (p.Thr977Asn) c.2801C>A (p.Thr934Asn) | |
3 | g.38581230T>A | CA352140202 | SCN5A | c.2929A>T (p.Thr977Ser) c.2800A>T (p.Thr934Ser) | gnomAD v4 |
3 | g.38581230T>C | CA352140206 | SCN5A | c.2929A>G (p.Thr977Ala) c.2800A>G (p.Thr934Ala) | |
3 | g.38581230T>G | CA352140203 | SCN5A | c.2929A>C (p.Thr977Pro) c.2800A>C (p.Thr934Pro) | |
3 | g.38581231G>A | CA433332559 | SCN5A | c.2928C>T (p.Thr976=) c.2799C>T (p.Thr933=) | |
3 | g.38581231G>C | CA433332560 | SCN5A | c.2928C>G (p.Thr976=) c.2799C>G (p.Thr933=) | |
3 | g.38581231G>T | CA433332561 | SCN5A | c.2928C>A (p.Thr976=) c.2799C>A (p.Thr933=) | |
3 | g.38581232G>A | CA352140208 | SCN5A | c.2927C>T (p.Thr976Ile) c.2798C>T (p.Thr933Ile) | |
3 | g.38581232G>C | CA352140212 | SCN5A | c.2927C>G (p.Thr976Ser) c.2798C>G (p.Thr933Ser) | |
3 | g.38581232G>T | CA352140209 | SCN5A | c.2927C>A (p.Thr976Asn) c.2798C>A (p.Thr933Asn) | |
3 | g.38581233T>A | CA352140214 | SCN5A | c.2926A>T (p.Thr976Ser) c.2797A>T (p.Thr933Ser) | |
3 | g.38581233T>C | CA352140216 | SCN5A | c.2926A>G (p.Thr976Ala) c.2797A>G (p.Thr933Ala) | |
3 | g.38581233T>G | CA352140217 | SCN5A | c.2926A>C (p.Thr976Pro) c.2797A>C (p.Thr933Pro) | |
3 | g.38581234C>A | CA433332562 | SCN5A | c.2925G>T (p.Arg975=) c.2796G>T (p.Arg932=) | gnomAD v4 |
3 | g.38581234C= | CA1358574514 | SCN5A | c.2925G= (p.Arg975=) c.2796G= (p.Arg932=) | |
3 | g.38581234C>G | CA72926371 | SCN5A | c.2925G>C (p.Arg975=) c.2796G>C (p.Arg932=) | ClinVar dbSNP |
3 | g.38581234C>T | CA433332563 | SCN5A | c.2925G>A (p.Arg975=) c.2796G>A (p.Arg932=) | ClinVar dbSNP |
3 | g.38581235C>A | CA352140220 | SCN5A | c.2924G>T (p.Arg975Leu) c.2795G>T (p.Arg932Leu) | |
3 | g.38581235C= | CA1358574517 | SCN5A | c.2924G= (p.Arg975=) c.2795G= (p.Arg932=) | |
3 | g.38581235C>G | CA352140222 | SCN5A | c.2924G>C (p.Arg975Pro) c.2795G>C (p.Arg932Pro) | ClinVar dbSNP |
3 | g.38581235C>T | CA016636 | SCN5A | c.2924G>A (p.Arg975Gln) c.2795G>A (p.Arg932Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38581236G>A | CA016625 | SCN5A | c.2923C>T (p.Arg975Trp) c.2794C>T (p.Arg932Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38581236G>C | CA352140226 | SCN5A | c.2923C>G (p.Arg975Gly) c.2794C>G (p.Arg932Gly) | |
3 | g.38581236G= | CA1358574519 | SCN5A | c.2923C= (p.Arg975=) c.2794C= (p.Arg932=) | |
3 | g.38581236G>T | CA433332564 | SCN5A | c.2923C>A (p.Arg975=) c.2794C>A (p.Arg932=) | ClinVar |
3 | g.38581238_38581247del | CA2586972020 | SCN5A | c.2914_2923del (p.Phe972GlyfsTer?) c.2785_2794del (p.Phe929GlyfsTer?) |