UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38580910_38580997delinsCATGCAGGGGTGAGGGCCCACCTGCTTGCTGGACTCCTCCTCCGTGCCCAGGCTGTTCTCCTCATCTTCTTCTTGGTCATCTGTGTCT | CA1358576032 | SCN5A | c.3162_3228+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG c.3033_3099+21delinsAGACACAGATGACCAAGAAGAAGATGAGGAGAACAGCCTGGGCACGGAGGAGGAGTCCAGCAAGCAGGTGGGCCCTCACCCCTGCATG | |
| 3 | g.38580911_38580997del | CA1047003605 | SCN5A | c.3162_3228+20del c.3033_3099+20del | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38580993_38580998del | CA2573052155 | SCN5A | c.3165_3170del (p.Thr1056_Asp1057del) c.3036_3041del (p.Thr1013_Asp1014del) | ClinVar dbSNP |
| 3 | g.38580991T>A | CA433135093 | SCN5A | c.3168A>T (p.Thr1056=) c.3039A>T (p.Thr1013=) | |
| 3 | g.38580991T>C | CA433135094 | SCN5A | c.3168A>G (p.Thr1056=) c.3039A>G (p.Thr1013=) | dbSNP |
| 3 | g.38580991T>G | CA061330 | SCN5A | c.3168A>C (p.Thr1056=) c.3039A>C (p.Thr1013=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38580991T= | CA1358576237 | SCN5A | c.3168A= (p.Thr1056=) c.3039A= (p.Thr1013=) | |
| 3 | g.38580992G>A | CA352139199 | SCN5A | c.3167C>T (p.Thr1056Ile) c.3038C>T (p.Thr1013Ile) | |
| 3 | g.38580992G>C | CA352139201 | SCN5A | c.3167C>G (p.Thr1056Arg) c.3038C>G (p.Thr1013Arg) | |
| 3 | g.38580992G>T | CA352139203 | SCN5A | c.3167C>A (p.Thr1056Lys) c.3038C>A (p.Thr1013Lys) | |
| 3 | g.38580993T>A | CA352139205 | SCN5A | c.3166A>T (p.Thr1056Ser) c.3037A>T (p.Thr1013Ser) | |
| 3 | g.38580993T>C | CA352139207 | SCN5A | c.3166A>G (p.Thr1056Ala) c.3037A>G (p.Thr1013Ala) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38580993T>G | CA352139209 | SCN5A | c.3166A>C (p.Thr1056Pro) c.3037A>C (p.Thr1013Pro) | |
| 3 | g.38580993T= | CA1358576242 | SCN5A | c.3166A= (p.Thr1056=) c.3037A= (p.Thr1013=) | |
| 3 | g.38580994G>A | CA433135107 | SCN5A | c.3165C>T (p.Asp1055=) c.3036C>T (p.Asp1012=) | |
| 3 | g.38580994G>C | CA352139211 | SCN5A | c.3165C>G (p.Asp1055Glu) c.3036C>G (p.Asp1012Glu) | |
| 3 | g.38580994G>T | CA352139213 | SCN5A | c.3165C>A (p.Asp1055Glu) c.3036C>A (p.Asp1012Glu) | |
| 3 | g.38580995T>A | CA352139215 | SCN5A | c.3164A>T (p.Asp1055Val) c.3035A>T (p.Asp1012Val) | |
| 3 | g.38580995T>C | CA016878 | SCN5A | c.3164A>G (p.Asp1055Gly) c.3035A>G (p.Asp1012Gly) | ClinVar dbSNP |
| 3 | g.38580995T>G | CA352139216 | SCN5A | c.3164A>C (p.Asp1055Ala) c.3035A>C (p.Asp1012Ala) | |
| 3 | g.38580995T= | CA1358576248 | SCN5A | c.3164A= (p.Asp1055=) c.3035A= (p.Asp1012=) | |
| 3 | g.38580996C>A | CA352139219 | SCN5A | c.3163G>T (p.Asp1055Tyr) c.3034G>T (p.Asp1012Tyr) | |
| 3 | g.38580996C>G | CA352139221 | SCN5A | c.3163G>C (p.Asp1055His) c.3034G>C (p.Asp1012His) | |
| 3 | g.38580996C>T | CA352139223 | SCN5A | c.3163G>A (p.Asp1055Asn) c.3034G>A (p.Asp1012Asn) | |
| 3 | g.38580997T>A | CA433135112 | SCN5A | c.3162A>T (p.Ser1054=) c.3033A>T (p.Ser1011=) | |
| 3 | g.38580997T>C | CA433135115 | SCN5A | c.3162A>G (p.Ser1054=) c.3033A>G (p.Ser1011=) | COSMIC COSMIC COSMIC |
| 3 | g.38580997T>G | CA433135116 | SCN5A | c.3162A>C (p.Ser1054=) c.3033A>C (p.Ser1011=) | |
| 3 | g.38580998G>A | CA352139226 | SCN5A | c.3161C>T (p.Ser1054Leu) c.3032C>T (p.Ser1011Leu) | |
| 3 | g.38580998G>C | CA352139228 | SCN5A | c.3161C>G (p.Ser1054Ter) c.3032C>G (p.Ser1011Ter) | gnomAD v4 |
| 3 | g.38580998G>T | CA352139230 | SCN5A | c.3161C>A (p.Ser1054Ter) c.3032C>A (p.Ser1011Ter) | dbSNP |
| 3 | g.38580999_38581004del | CA2665113031 | SCN5A | c.3156_3161del (p.Glu1053_Ser1054del) c.3027_3032del (p.Glu1010_Ser1011del) | gnomAD v4 |
| 3 | g.38580999A= | CA1358576251 | SCN5A | c.3160T= (p.Ser1054=) c.3031T= (p.Ser1011=) | |
| 3 | g.38580999A>C | CA352139232 | SCN5A | c.3160T>G (p.Ser1054Ala) c.3031T>G (p.Ser1011Ala) | |
| 3 | g.38580999A>G | CA352139234 | SCN5A | c.3160T>C (p.Ser1054Pro) c.3031T>C (p.Ser1011Pro) | |
| 3 | g.38580999A>T | CA352139236 | SCN5A | c.3160T>A (p.Ser1054Thr) c.3031T>A (p.Ser1011Thr) | dbSNP |
| 3 | g.38581000C>A | CA352139238 | SCN5A | c.3159G>T (p.Glu1053Asp) c.3030G>T (p.Glu1010Asp) | |
| 3 | g.38581000C= | CA1358576256 | SCN5A | c.3159G= (p.Glu1053=) c.3030G= (p.Glu1010=) | |
| 3 | g.38581000C>G | CA352139241 | SCN5A | c.3159G>C (p.Glu1053Asp) c.3030G>C (p.Glu1010Asp) | dbSNP |
| 3 | g.38581000C>T | CA16604917 | SCN5A | c.3159G>A (p.Glu1053=) c.3030G>A (p.Glu1010=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581001T>A | CA352139244 | SCN5A | c.3158A>T (p.Glu1053Val) c.3029A>T (p.Glu1010Val) | |
| 3 | g.38581001T>C | CA352139246 | SCN5A | c.3158A>G (p.Glu1053Gly) c.3029A>G (p.Glu1010Gly) | |
| 3 | g.38581001T>G | CA352139247 | SCN5A | c.3158A>C (p.Glu1053Ala) c.3029A>C (p.Glu1010Ala) | |
| 3 | g.38581002C>A | CA352139250 | SCN5A | c.3157G>T (p.Glu1053Ter) c.3028G>T (p.Glu1010Ter) | ClinVar dbSNP |
| 3 | g.38581002C= | CA1358576262 | SCN5A | c.3157G= (p.Glu1053=) c.3028G= (p.Glu1010=) | |
| 3 | g.38581002C>G | CA352139252 | SCN5A | c.3157G>C (p.Glu1053Gln) c.3028G>C (p.Glu1010Gln) | |
| 3 | g.38581002C>T | CA016871 | SCN5A | c.3157G>A (p.Glu1053Lys) c.3028G>A (p.Glu1010Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581003G>A | CA061322 | SCN5A | c.3156C>T (p.Ala1052=) c.3027C>T (p.Ala1009=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581003G>C | CA433135128 | SCN5A | c.3156C>G (p.Ala1052=) c.3027C>G (p.Ala1009=) | |
| 3 | g.38581003G= | CA1358576268 | SCN5A | c.3156C= (p.Ala1052=) c.3027C= (p.Ala1009=) | |
| 3 | g.38581003G>T | CA433135129 | SCN5A | c.3156C>A (p.Ala1052=) c.3027C>A (p.Ala1009=) | |
| 3 | g.38581004G>A | CA352139255 | SCN5A | c.3155C>T (p.Ala1052Val) c.3026C>T (p.Ala1009Val) | |
| 3 | g.38581004G>C | CA352139256 | SCN5A | c.3155C>G (p.Ala1052Gly) c.3026C>G (p.Ala1009Gly) | |
| 3 | g.38581004G= | CA1358576273 | SCN5A | c.3155C= (p.Ala1052=) c.3026C= (p.Ala1009=) | |
| 3 | g.38581004G>T | CA352139258 | SCN5A | c.3155C>A (p.Ala1052Asp) c.3026C>A (p.Ala1009Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581004_38581017delinsGCCACAGCGATGGG | CA1358576272 | SCN5A | c.3142_3155delinsCCCATCGCTGTGGC (p.Pro1048=) c.3013_3026delinsCCCATCGCTGTGGC (p.Pro1005=) | |
| 3 | g.38581005C>A | CA352139265 | SCN5A | c.3154G>T (p.Ala1052Ser) c.3025G>T (p.Ala1009Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581005C= | CA1358576283 | SCN5A | c.3154G= (p.Ala1052=) c.3025G= (p.Ala1009=) | |
| 3 | g.38581005C>G | CA352139264 | SCN5A | c.3154G>C (p.Ala1052Pro) c.3025G>C (p.Ala1009Pro) | |
| 3 | g.38581005C>T | CA352139261 | SCN5A | c.3154G>A (p.Ala1052Thr) c.3025G>A (p.Ala1009Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581006del | CA2499216750 | SCN5A | c.3154del (p.Ala1052ProfsTer?) c.3025del (p.Ala1009ProfsTer?) | ClinVar dbSNP |
| 3 | g.38581005_38581017delinsACACAGTCAGA | CA10582194 | SCN5A | c.3142_3154delinsTCTGACTGTGT (p.Pro1048SerfsTer10) c.3013_3025delinsTCTGACTGTGT (p.Pro1005SerfsTer10) | ClinVar dbSNP |
| 3 | g.38581005_38581017delinsCCACAGCGATGGG | CA1358576285 | SCN5A | c.3142_3154delinsCCCATCGCTGTGG (p.Pro1048=) c.3013_3025delinsCCCATCGCTGTGG (p.Pro1005=) | |
| 3 | g.38581005_38581006insA | CA542615697 | SCN5A | c.3153_3154insT (p.Ala1052CysfsTer7) c.3024_3025insT (p.Ala1009CysfsTer7) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581006C>A | CA433135140 | SCN5A | c.3153G>T (p.Val1051=) c.3024G>T (p.Val1008=) | dbSNP |
| 3 | g.38581006C>G | CA433135142 | SCN5A | c.3153G>C (p.Val1051=) c.3024G>C (p.Val1008=) | |
| 3 | g.38581006C>T | CA433135144 | SCN5A | c.3153G>A (p.Val1051=) c.3024G>A (p.Val1008=) | |
| 3 | g.38581006_38581017delinsACACAGTCAGA | CA016864 | SCN5A | c.3142_3153delinsTCTGACTGTGT (p.Pro1048SerfsTer?) c.3013_3024delinsTCTGACTGTGT (p.Pro1005SerfsTer?) | ClinVar dbSNP |
| 3 | g.38581007A= | CA1358576294 | SCN5A | c.3152T= (p.Val1051=) c.3023T= (p.Val1008=) | |
| 3 | g.38581007A>C | CA352139267 | SCN5A | c.3152T>G (p.Val1051Gly) c.3023T>G (p.Val1008Gly) | |
| 3 | g.38581007A>G | CA061317 | SCN5A | c.3152T>C (p.Val1051Ala) c.3023T>C (p.Val1008Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581007A>T | CA352139270 | SCN5A | c.3152T>A (p.Val1051Glu) c.3023T>A (p.Val1008Glu) | |
| 3 | g.38581008C>A | CA352139272 | SCN5A | c.3151G>T (p.Val1051Leu) c.3022G>T (p.Val1008Leu) | |
| 3 | g.38581008C>G | CA352139274 | SCN5A | c.3151G>C (p.Val1051Leu) c.3022G>C (p.Val1008Leu) | |
| 3 | g.38581008C>T | CA352139275 | SCN5A | c.3151G>A (p.Val1051Met) c.3022G>A (p.Val1008Met) | |
| 3 | g.38581009A>C | CA433135159 | SCN5A | c.3150T>G (p.Ala1050=) c.3021T>G (p.Ala1007=) | |
| 3 | g.38581009A>G | CA433135157 | SCN5A | c.3150T>C (p.Ala1050=) c.3021T>C (p.Ala1007=) | |
| 3 | g.38581009A>T | CA433135156 | SCN5A | c.3150T>A (p.Ala1050=) c.3021T>A (p.Ala1007=) | |
| 3 | g.38581010G>A | CA352139278 | SCN5A | c.3149C>T (p.Ala1050Val) c.3020C>T (p.Ala1007Val) | |
| 3 | g.38581010G>C | CA352139279 | SCN5A | c.3149C>G (p.Ala1050Gly) c.3020C>G (p.Ala1007Gly) | |
| 3 | g.38581010G= | CA1358576297 | SCN5A | c.3149C= (p.Ala1050=) c.3020C= (p.Ala1007=) | |
| 3 | g.38581010G>T | CA352139281 | SCN5A | c.3149C>A (p.Ala1050Asp) c.3020C>A (p.Ala1007Asp) | |
| 3 | g.38581010_38581011insT | CA542615698 | SCN5A | c.3148_3149insA (p.Ala1050AspfsTer9) c.3019_3020insA (p.Ala1007AspfsTer9) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581011C>A | CA352139282 | SCN5A | c.3148G>T (p.Ala1050Ser) c.3019G>T (p.Ala1007Ser) | dbSNP gnomAD v2 |
| 3 | g.38581011C= | CA1358576301 | SCN5A | c.3148G= (p.Ala1050=) c.3019G= (p.Ala1007=) | |
| 3 | g.38581011C>G | CA352139284 | SCN5A | c.3148G>C (p.Ala1050Pro) c.3019G>C (p.Ala1007Pro) | |
| 3 | g.38581011C>T | CA352139286 | SCN5A | c.3148G>A (p.Ala1050Thr) c.3019G>A (p.Ala1007Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581011_38581012insA | CA542615699 | SCN5A | c.3147_3148insT (p.Ala1050CysfsTer9) c.3018_3019insT (p.Ala1007CysfsTer9) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581012G>A | CA72926171 | SCN5A | c.3147C>T (p.Ile1049=) c.3018C>T (p.Ile1006=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581012G>C | CA352139289 | SCN5A | c.3147C>G (p.Ile1049Met) c.3018C>G (p.Ile1006Met) | dbSNP |
| 3 | g.38581012G= | CA1358576306 | SCN5A | c.3147C= (p.Ile1049=) c.3018C= (p.Ile1006=) | |
| 3 | g.38581012G>T | CA433135167 | SCN5A | c.3147C>A (p.Ile1049=) c.3018C>A (p.Ile1006=) | |
| 3 | g.38581013A>C | CA352139291 | SCN5A | c.3146T>G (p.Ile1049Ser) c.3017T>G (p.Ile1006Ser) | |
| 3 | g.38581013A>G | CA352139294 | SCN5A | c.3146T>C (p.Ile1049Thr) c.3017T>C (p.Ile1006Thr) | |
| 3 | g.38581013A>T | CA352139292 | SCN5A | c.3146T>A (p.Ile1049Asn) c.3017T>A (p.Ile1006Asn) | |
| 3 | g.38581013_38581015delinsATG | CA1358576311 | SCN5A | c.3144_3146delinsCAT (p.Pro1048=) c.3015_3017delinsCAT (p.Pro1005=) | |
| 3 | g.38581013_38581017delinsATGGG | CA1358576310 | SCN5A | c.3142_3146delinsCCCAT (p.Pro1048=) c.3013_3017delinsCCCAT (p.Pro1005=) | |
| 3 | g.38581014T>A | CA352139297 | SCN5A | c.3145A>T (p.Ile1049Phe) c.3016A>T (p.Ile1006Phe) | |
| 3 | g.38581014T>C | CA352139300 | SCN5A | c.3145A>G (p.Ile1049Val) c.3016A>G (p.Ile1006Val) | ClinVar dbSNP |
| 3 | g.38581014T>G | CA352139298 | SCN5A | c.3145A>C (p.Ile1049Leu) c.3016A>C (p.Ile1006Leu) | |
| 3 | g.38581014_38581015del | CA1358576316 | SCN5A | c.3144_3145del (p.Ile1049ArgfsTer9) c.3015_3016del (p.Ile1006ArgfsTer9) | dbSNP |
| 3 | g.38581014_38581017del | CA542615700 | SCN5A | c.3142_3145del (p.Pro1048SerfsTer?) c.3013_3016del (p.Pro1005SerfsTer?) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581015G>A | CA433135176 | SCN5A | c.3144C>T (p.Pro1048=) c.3015C>T (p.Pro1005=) | |
| 3 | g.38581015G>C | CA433135178 | SCN5A | c.3144C>G (p.Pro1048=) c.3015C>G (p.Pro1005=) | |
| 3 | g.38581015G>T | CA433135181 | SCN5A | c.3144C>A (p.Pro1048=) c.3015C>A (p.Pro1005=) | |
| 3 | g.38581016G>A | CA352139302 | SCN5A | c.3143C>T (p.Pro1048Leu) c.3014C>T (p.Pro1005Leu) | gnomAD v4 |
| 3 | g.38581016G>C | CA352139303 | SCN5A | c.3143C>G (p.Pro1048Arg) c.3014C>G (p.Pro1005Arg) | |
| 3 | g.38581016G>T | CA352139305 | SCN5A | c.3143C>A (p.Pro1048His) c.3014C>A (p.Pro1005His) | |
| 3 | g.38581017G>A | CA352139308 | SCN5A | c.3142C>T (p.Pro1048Ser) c.3013C>T (p.Pro1005Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581017G>C | CA352139309 | SCN5A | c.3142C>G (p.Pro1048Ala) c.3013C>G (p.Pro1005Ala) | |
| 3 | g.38581017G= | CA1358576320 | SCN5A | c.3142C= (p.Pro1048=) c.3013C= (p.Pro1005=) | |
| 3 | g.38581017G>T | CA352139311 | SCN5A | c.3142C>A (p.Pro1048Thr) c.3013C>A (p.Pro1005Thr) | |
| 3 | g.38581018C>A | CA433135191 | SCN5A | c.3141G>T (p.Val1047=) c.3012G>T (p.Val1004=) | |
| 3 | g.38581018C= | CA1358576322 | SCN5A | c.3141G= (p.Val1047=) c.3012G= (p.Val1004=) | |
| 3 | g.38581018C>G | CA433135192 | SCN5A | c.3141G>C (p.Val1047=) c.3012G>C (p.Val1004=) | |
| 3 | g.38581018C>T | CA061312 | SCN5A | c.3141G>A (p.Val1047=) c.3012G>A (p.Val1004=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581025_38581026dup | CA2586972014 | SCN5A | c.3140_3141dup (p.Pro1048CysfsTer?) c.3011_3012dup (p.Pro1005CysfsTer?) | |
| 3 | g.38581019A>C | CA352139314 | SCN5A | c.3140T>G (p.Val1047Gly) c.3011T>G (p.Val1004Gly) | |
| 3 | g.38581019A>G | CA352139316 | SCN5A | c.3140T>C (p.Val1047Ala) c.3011T>C (p.Val1004Ala) | |
| 3 | g.38581019A>T | CA352139318 | SCN5A | c.3140T>A (p.Val1047Glu) c.3011T>A (p.Val1004Glu) | |
| 3 | g.38581020C>A | CA352139320 | SCN5A | c.3139G>T (p.Val1047Leu) c.3010G>T (p.Val1004Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581020C= | CA1358576328 | SCN5A | c.3139G= (p.Val1047=) c.3010G= (p.Val1004=) | |
| 3 | g.38581020C>G | CA352139322 | SCN5A | c.3139G>C (p.Val1047Leu) c.3010G>C (p.Val1004Leu) | ClinVar dbSNP |
| 3 | g.38581020C>T | CA352139324 | SCN5A | c.3139G>A (p.Val1047Met) c.3010G>A (p.Val1004Met) | |
| 3 | g.38581021A= | CA1358576332 | SCN5A | c.3138T= (p.Cys1046=) c.3009T= (p.Cys1003=) | |
| 3 | g.38581021A>C | CA352139326 | SCN5A | c.3138T>G (p.Cys1046Trp) c.3009T>G (p.Cys1003Trp) | |
| 3 | g.38581021A>G | CA433135200 | SCN5A | c.3138T>C (p.Cys1046=) c.3009T>C (p.Cys1003=) | |
| 3 | g.38581021A>T | CA352139325 | SCN5A | c.3138T>A (p.Cys1046Ter) c.3009T>A (p.Cys1003Ter) | dbSNP |
| 3 | g.38581022C>A | CA352139328 | SCN5A | c.3137G>T (p.Cys1046Phe) c.3008G>T (p.Cys1003Phe) | |
| 3 | g.38581022C= | CA1358576334 | SCN5A | c.3137G= (p.Cys1046=) c.3008G= (p.Cys1003=) | |
| 3 | g.38581022C>G | CA352139330 | SCN5A | c.3137G>C (p.Cys1046Ser) c.3008G>C (p.Cys1003Ser) | |
| 3 | g.38581022C>T | CA352139332 | SCN5A | c.3137G>A (p.Cys1046Tyr) c.3008G>A (p.Cys1003Tyr) | dbSNP |
| 3 | g.38581023A>C | CA352139334 | SCN5A | c.3136T>G (p.Cys1046Gly) c.3007T>G (p.Cys1003Gly) | |
| 3 | g.38581023A>G | CA352139336 | SCN5A | c.3136T>C (p.Cys1046Arg) c.3007T>C (p.Cys1003Arg) | ClinVar |
| 3 | g.38581023A>T | CA352139338 | SCN5A | c.3136T>A (p.Cys1046Ser) c.3007T>A (p.Cys1003Ser) | |
| 3 | g.38581024C>A | CA433135210 | SCN5A | c.3135G>T (p.Val1045=) c.3006G>T (p.Val1002=) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38581024C= | CA1358576336 | SCN5A | c.3135G= (p.Val1045=) c.3006G= (p.Val1002=) | |
| 3 | g.38581024C>G | CA433135217 | SCN5A | c.3135G>C (p.Val1045=) c.3006G>C (p.Val1002=) | |
| 3 | g.38581024C>T | CA433135219 | SCN5A | c.3135G>A (p.Val1045=) c.3006G>A (p.Val1002=) | gnomAD v4 |
| 3 | g.38581025A>C | CA352139340 | SCN5A | c.3134T>G (p.Val1045Gly) c.3005T>G (p.Val1002Gly) | |
| 3 | g.38581025A>G | CA352139343 | SCN5A | c.3134T>C (p.Val1045Ala) c.3005T>C (p.Val1002Ala) | |
| 3 | g.38581025A>T | CA352139344 | SCN5A | c.3134T>A (p.Val1045Glu) c.3005T>A (p.Val1002Glu) | |
| 3 | g.38581026C>A | CA352139346 | SCN5A | c.3133G>T (p.Val1045Leu) c.3004G>T (p.Val1002Leu) | |
| 3 | g.38581026C= | CA1358576339 | SCN5A | c.3133G= (p.Val1045=) c.3004G= (p.Val1002=) | |
| 3 | g.38581026C>G | CA352139348 | SCN5A | c.3133G>C (p.Val1045Leu) c.3004G>C (p.Val1002Leu) | dbSNP gnomAD v4 |
| 3 | g.38581026C>T | CA061309 | SCN5A | c.3133G>A (p.Val1045Met) c.3004G>A (p.Val1002Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581027G>A | CA061305 | SCN5A | c.3132C>T (p.Pro1044=) c.3003C>T (p.Pro1001=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581027G>C | CA433135224 | SCN5A | c.3132C>G (p.Pro1044=) c.3003C>G (p.Pro1001=) | |
| 3 | g.38581027G= | CA1358576353 | SCN5A | c.3132C= (p.Pro1044=) c.3003C= (p.Pro1001=) | |
| 3 | g.38581027G>T | CA433135225 | SCN5A | c.3132C>A (p.Pro1044=) c.3003C>A (p.Pro1001=) | |
| 3 | g.38581028G>A | CA72926174 | SCN5A | c.3131C>T (p.Pro1044Leu) c.3002C>T (p.Pro1001Leu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581028G>C | CA352139354 | SCN5A | c.3131C>G (p.Pro1044Arg) c.3002C>G (p.Pro1001Arg) | |
| 3 | g.38581028G= | CA1358576357 | SCN5A | c.3131C= (p.Pro1044=) c.3002C= (p.Pro1001=) | |
| 3 | g.38581028G>T | CA352139352 | SCN5A | c.3131C>A (p.Pro1044His) c.3002C>A (p.Pro1001His) | gnomAD v4 |
| 3 | g.38581029G>A | CA352139356 | SCN5A | c.3130C>T (p.Pro1044Ser) c.3001C>T (p.Pro1001Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581029G>C | CA352139358 | SCN5A | c.3130C>G (p.Pro1044Ala) c.3001C>G (p.Pro1001Ala) | |
| 3 | g.38581029G= | CA1358576359 | SCN5A | c.3130C= (p.Pro1044=) c.3001C= (p.Pro1001=) | |
| 3 | g.38581029G>T | CA352139360 | SCN5A | c.3130C>A (p.Pro1044Thr) c.3001C>A (p.Pro1001Thr) | |
| 3 | g.38581030C>A | CA352139362 | SCN5A | c.3129G>T (p.Glu1043Asp) c.3000G>T (p.Glu1000Asp) | |
| 3 | g.38581030C>G | CA352139364 | SCN5A | c.3129G>C (p.Glu1043Asp) c.3000G>C (p.Glu1000Asp) | |
| 3 | g.38581030C>T | CA433135233 | SCN5A | c.3129G>A (p.Glu1043=) c.3000G>A (p.Glu1000=) | |
| 3 | g.38581031T>A | CA352139366 | SCN5A | c.3128A>T (p.Glu1043Val) c.2999A>T (p.Glu1000Val) | |
| 3 | g.38581031T>C | CA352139368 | SCN5A | c.3128A>G (p.Glu1043Gly) c.2999A>G (p.Glu1000Gly) | gnomAD v4 |
| 3 | g.38581031T>G | CA352139370 | SCN5A | c.3128A>C (p.Glu1043Ala) c.2999A>C (p.Glu1000Ala) | |
| 3 | g.38581032del | CA2740094356 | SCN5A | c.3127del (p.Glu1043SerfsTer?) c.2998del (p.Glu1000SerfsTer?) | ClinVar |
| 3 | g.38581032C>A | CA352139372 | SCN5A | c.3127G>T (p.Glu1043Ter) c.2998G>T (p.Glu1000Ter) | dbSNP |
| 3 | g.38581032C= | CA1358576362 | SCN5A | c.3127G= (p.Glu1043=) c.2998G= (p.Glu1000=) | |
| 3 | g.38581032C>G | CA352139374 | SCN5A | c.3127G>C (p.Glu1043Gln) c.2998G>C (p.Glu1000Gln) | ClinVar dbSNP |
| 3 | g.38581032C>T | CA352139375 | SCN5A | c.3127G>A (p.Glu1043Lys) c.2998G>A (p.Glu1000Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581033T>A | CA433135241 | SCN5A | c.3126A>T (p.Pro1042=) c.2997A>T (p.Pro999=) | |
| 3 | g.38581033T>C | CA433135242 | SCN5A | c.3126A>G (p.Pro1042=) c.2997A>G (p.Pro999=) | |
| 3 | g.38581033T>G | CA433135244 | SCN5A | c.3126A>C (p.Pro1042=) c.2997A>C (p.Pro999=) | |
| 3 | g.38581034G>A | CA352139381 | SCN5A | c.3125C>T (p.Pro1042Leu) c.2996C>T (p.Pro999Leu) | dbSNP gnomAD v2 |
| 3 | g.38581034G>C | CA352139377 | SCN5A | c.3125C>G (p.Pro1042Arg) c.2996C>G (p.Pro999Arg) | |
| 3 | g.38581034G= | CA1358576367 | SCN5A | c.3125C= (p.Pro1042=) c.2996C= (p.Pro999=) | |
| 3 | g.38581034G>T | CA352139379 | SCN5A | c.3125C>A (p.Pro1042Gln) c.2996C>A (p.Pro999Gln) | |
| 3 | g.38581035G>A | CA352139383 | SCN5A | c.3124C>T (p.Pro1042Ser) c.2995C>T (p.Pro999Ser) | |
| 3 | g.38581035G>C | CA352139384 | SCN5A | c.3124C>G (p.Pro1042Ala) c.2995C>G (p.Pro999Ala) | |
| 3 | g.38581035G>T | CA352139386 | SCN5A | c.3124C>A (p.Pro1042Thr) c.2995C>A (p.Pro999Thr) | ClinVar |
| 3 | g.38581036A>C | CA352139389 | SCN5A | c.3123T>G (p.Asp1041Glu) c.2994T>G (p.Asp998Glu) | |
| 3 | g.38581036A>G | CA433135253 | SCN5A | c.3123T>C (p.Asp1041=) c.2994T>C (p.Asp998=) | |
| 3 | g.38581036A>T | CA352139390 | SCN5A | c.3123T>A (p.Asp1041Glu) c.2994T>A (p.Asp998Glu) | |
| 3 | g.38581037T>A | CA352139392 | SCN5A | c.3122A>T (p.Asp1041Val) c.2993A>T (p.Asp998Val) | |
| 3 | g.38581037T>C | CA061298 | SCN5A | c.3122A>G (p.Asp1041Gly) c.2993A>G (p.Asp998Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581037T>G | CA352139395 | SCN5A | c.3122A>C (p.Asp1041Ala) c.2993A>C (p.Asp998Ala) | |
| 3 | g.38581037T= | CA1358576372 | SCN5A | c.3122A= (p.Asp1041=) c.2993A= (p.Asp998=) | |
| 3 | g.38581038C>A | CA352139397 | SCN5A | c.3121G>T (p.Asp1041Tyr) c.2992G>T (p.Asp998Tyr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581038C= | CA1358576376 | SCN5A | c.3121G= (p.Asp1041=) c.2992G= (p.Asp998=) | |
| 3 | g.38581038C>G | CA352139399 | SCN5A | c.3121G>C (p.Asp1041His) c.2992G>C (p.Asp998His) | |
| 3 | g.38581038C>T | CA016857 | SCN5A | c.3121G>A (p.Asp1041Asn) c.2992G>A (p.Asp998Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581041dup | CA2755900484 | SCN5A | c.3121dup (p.Asp1041GlyfsTer18) c.2992dup (p.Asp998GlyfsTer18) | |
| 3 | g.38581039C>A | CA433135260 | SCN5A | c.3120G>T (p.Gly1040=) c.2991G>T (p.Gly997=) | |
| 3 | g.38581039C>G | CA433135264 | SCN5A | c.3120G>C (p.Gly1040=) c.2991G>C (p.Gly997=) | ClinVar |
| 3 | g.38581039C>T | CA433135265 | SCN5A | c.3120G>A (p.Gly1040=) c.2991G>A (p.Gly997=) | |
| 3 | g.38581040C>A | CA352139404 | SCN5A | c.3119G>T (p.Gly1040Val) c.2990G>T (p.Gly997Val) | |
| 3 | g.38581040C= | CA1358576379 | SCN5A | c.3119G= (p.Gly1040=) c.2990G= (p.Gly997=) | |
| 3 | g.38581040C>G | CA352139406 | SCN5A | c.3119G>C (p.Gly1040Ala) c.2990G>C (p.Gly997Ala) | |
| 3 | g.38581040C>T | CA352139402 | SCN5A | c.3119G>A (p.Gly1040Glu) c.2990G>A (p.Gly997Glu) | ClinVar dbSNP |
| 3 | g.38581041C>A | CA352139409 | SCN5A | c.3118G>T (p.Gly1040Trp) c.2989G>T (p.Gly997Trp) | |
| 3 | g.38581041C= | CA1358576382 | SCN5A | c.3118G= (p.Gly1040=) c.2989G= (p.Gly997=) | |
| 3 | g.38581041C>G | CA061293 | SCN5A | c.3118G>C (p.Gly1040Arg) c.2989G>C (p.Gly997Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581041C>T | CA016841 | SCN5A | c.3118G>A (p.Gly1040Arg) c.2989G>A (p.Gly997Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581042G>A | CA061286 | SCN5A | c.3117C>T (p.Pro1039=) c.2988C>T (p.Pro996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581042G>C | CA061280 | SCN5A | c.3117C>G (p.Pro1039=) c.2988C>G (p.Pro996=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581042G= | CA1358576385 | SCN5A | c.3117C= (p.Pro1039=) c.2988C= (p.Pro996=) | |
| 3 | g.38581042G>T | CA433135274 | SCN5A | c.3117C>A (p.Pro1039=) c.2988C>A (p.Pro996=) | ClinVar dbSNP |
| 3 | g.38581046del | CA2697550820 | SCN5A | c.3117del (p.Asp1041IlefsTer?) c.2988del (p.Asp998IlefsTer?) | ClinVar |
| 3 | g.38581043G>A | CA352139417 | SCN5A | c.3116C>T (p.Pro1039Leu) c.2987C>T (p.Pro996Leu) | gnomAD v4 |
| 3 | g.38581043G>C | CA352139416 | SCN5A | c.3116C>G (p.Pro1039Arg) c.2987C>G (p.Pro996Arg) | |
| 3 | g.38581043G>T | CA352139414 | SCN5A | c.3116C>A (p.Pro1039His) c.2987C>A (p.Pro996His) | |
| 3 | g.38581044G>A | CA352139420 | SCN5A | c.3115C>T (p.Pro1039Ser) c.2986C>T (p.Pro996Ser) | gnomAD v4 |
| 3 | g.38581044G>C | CA352139422 | SCN5A | c.3115C>G (p.Pro1039Ala) c.2986C>G (p.Pro996Ala) | |
| 3 | g.38581044G>T | CA352139424 | SCN5A | c.3115C>A (p.Pro1039Thr) c.2986C>A (p.Pro996Thr) | |
| 3 | g.38581045G>A | CA433135278 | SCN5A | c.3114C>T (p.Thr1038=) c.2985C>T (p.Thr995=) | ClinVar dbSNP |
| 3 | g.38581045G>C | CA433135279 | SCN5A | c.3114C>G (p.Thr1038=) c.2985C>G (p.Thr995=) | |
| 3 | g.38581045G>T | CA433135281 | SCN5A | c.3114C>A (p.Thr1038=) c.2985C>A (p.Thr995=) | |
| 3 | g.38581046G>A | CA352139426 | SCN5A | c.3113C>T (p.Thr1038Ile) c.2984C>T (p.Thr995Ile) | gnomAD v4 |
| 3 | g.38581046G>C | CA352139428 | SCN5A | c.3113C>G (p.Thr1038Ser) c.2984C>G (p.Thr995Ser) | |
| 3 | g.38581046G>T | CA352139430 | SCN5A | c.3113C>A (p.Thr1038Asn) c.2984C>A (p.Thr995Asn) | |
| 3 | g.38581046_38581047delinsGT | CA1358576386 | SCN5A | c.3112_3113delinsAC (p.Thr1038=) c.2983_2984delinsAC (p.Thr995=) | |
| 3 | g.38581047T>A | CA352139437 | SCN5A | c.3112A>T (p.Thr1038Ser) c.2983A>T (p.Thr995Ser) | |
| 3 | g.38581047T>C | CA352139433 | SCN5A | c.3112A>G (p.Thr1038Ala) c.2983A>G (p.Thr995Ala) | gnomAD v4 |
| 3 | g.38581047T>G | CA352139435 | SCN5A | c.3112A>C (p.Thr1038Pro) c.2983A>C (p.Thr995Pro) | |
| 3 | g.38581047delinsGGG | CA307949 | SCN5A | c.3112delinsCCC (p.Thr1038ProfsTer?) c.2983delinsCCC (p.Thr995ProfsTer?) | ClinVar dbSNP |
| 3 | g.38581048G>A | CA433135288 | SCN5A | c.3111C>T (p.Gly1037=) c.2982C>T (p.Gly994=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581048G>C | CA433135290 | SCN5A | c.3111C>G (p.Gly1037=) c.2982C>G (p.Gly994=) | |
| 3 | g.38581048G= | CA1358576391 | SCN5A | c.3111C= (p.Gly1037=) c.2982C= (p.Gly994=) | |
| 3 | g.38581048G>T | CA16604571 | SCN5A | c.3111C>A (p.Gly1037=) c.2982C>A (p.Gly994=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581049C>A | CA061276 | SCN5A | c.3110G>T (p.Gly1037Val) c.2981G>T (p.Gly994Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581049C= | CA1358576396 | SCN5A | c.3110G= (p.Gly1037=) c.2981G= (p.Gly994=) | |
| 3 | g.38581049C>G | CA352139440 | SCN5A | c.3110G>C (p.Gly1037Ala) c.2981G>C (p.Gly994Ala) | |
| 3 | g.38581049C>T | CA352139441 | SCN5A | c.3110G>A (p.Gly1037Asp) c.2981G>A (p.Gly994Asp) | gnomAD v4 |
| 3 | g.38581050C>A | CA352139444 | SCN5A | c.3109G>T (p.Gly1037Cys) c.2980G>T (p.Gly994Cys) | |
| 3 | g.38581050C= | CA1358576400 | SCN5A | c.3109G= (p.Gly1037=) c.2980G= (p.Gly994=) | |
| 3 | g.38581050C>G | CA352139446 | SCN5A | c.3109G>C (p.Gly1037Arg) c.2980G>C (p.Gly994Arg) | |
| 3 | g.38581050C>T | CA061270 | SCN5A | c.3109G>A (p.Gly1037Ser) c.2980G>A (p.Gly994Ser) | ClinVar dbSNP ExAC |
| 3 | g.38581051C>A | CA352139448 | SCN5A | c.3108G>T (p.Gln1036His) c.2979G>T (p.Gln993His) | |
| 3 | g.38581051C= | CA1358576404 | SCN5A | c.3108G= (p.Gln1036=) c.2979G= (p.Gln993=) | |
| 3 | g.38581051C>G | CA352139450 | SCN5A | c.3108G>C (p.Gln1036His) c.2979G>C (p.Gln993His) | gnomAD v4 |
| 3 | g.38581051C>T | CA72926212 | SCN5A | c.3108G>A (p.Gln1036=) c.2979G>A (p.Gln993=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581052T>A | CA352139453 | SCN5A | c.3107A>T (p.Gln1036Leu) c.2978A>T (p.Gln993Leu) | |
| 3 | g.38581052T>C | CA352139456 | SCN5A | c.3107A>G (p.Gln1036Arg) c.2978A>G (p.Gln993Arg) | ClinVar |
| 3 | g.38581052T>G | CA352139458 | SCN5A | c.3107A>C (p.Gln1036Pro) c.2978A>C (p.Gln993Pro) | gnomAD v4 |
| 3 | g.38581053G>A | CA352139460 | SCN5A | c.3106C>T (p.Gln1036Ter) c.2977C>T (p.Gln993Ter) | |
| 3 | g.38581053G>C | CA352139464 | SCN5A | c.3106C>G (p.Gln1036Glu) c.2977C>G (p.Gln993Glu) | |
| 3 | g.38581053G>T | CA352139462 | SCN5A | c.3106C>A (p.Gln1036Lys) c.2977C>A (p.Gln993Lys) | |
| 3 | g.38581054G>A | CA433135303 | SCN5A | c.3105C>T (p.Gly1035=) c.2976C>T (p.Gly992=) | gnomAD v4 |
| 3 | g.38581054G>C | CA433135305 | SCN5A | c.3105C>G (p.Gly1035=) c.2976C>G (p.Gly992=) | |
| 3 | g.38581054G>T | CA433135306 | SCN5A | c.3105C>A (p.Gly1035=) c.2976C>A (p.Gly992=) | |
| 3 | g.38581055C>A | CA352139466 | SCN5A | c.3104G>T (p.Gly1035Val) c.2975G>T (p.Gly992Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581055C= | CA1358576409 | SCN5A | c.3104G= (p.Gly1035=) c.2975G= (p.Gly992=) | |
| 3 | g.38581055C>G | CA352139468 | SCN5A | c.3104G>C (p.Gly1035Ala) c.2975G>C (p.Gly992Ala) | |
| 3 | g.38581055C>T | CA72926216 | SCN5A | c.3104G>A (p.Gly1035Asp) c.2975G>A (p.Gly992Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581056C>A | CA352139470 | SCN5A | c.3103G>T (p.Gly1035Cys) c.2974G>T (p.Gly992Cys) | |
| 3 | g.38581056C= | CA1358576413 | SCN5A | c.3103G= (p.Gly1035=) c.2974G= (p.Gly992=) | |
| 3 | g.38581056C>G | CA72926219 | SCN5A | c.3103G>C (p.Gly1035Arg) c.2974G>C (p.Gly992Arg) | dbSNP gnomAD v4 |
| 3 | g.38581056C>T | CA352139473 | SCN5A | c.3103G>A (p.Gly1035Ser) c.2974G>A (p.Gly992Ser) | |
| 3 | g.38581057T>A | CA433135315 | SCN5A | c.3102A>T (p.Pro1034=) c.2973A>T (p.Pro991=) | |
| 3 | g.38581057T>C | CA433135317 | SCN5A | c.3102A>G (p.Pro1034=) c.2973A>G (p.Pro991=) | |
| 3 | g.38581057T>G | CA433135314 | SCN5A | c.3102A>C (p.Pro1034=) c.2973A>C (p.Pro991=) | |
| 3 | g.38581058G>A | CA352139480 | SCN5A | c.3101C>T (p.Pro1034Leu) c.2972C>T (p.Pro991Leu) | |
| 3 | g.38581058G>C | CA352139476 | SCN5A | c.3101C>G (p.Pro1034Arg) c.2972C>G (p.Pro991Arg) | |
| 3 | g.38581058G= | CA1358576418 | SCN5A | c.3101C= (p.Pro1034=) c.2972C= (p.Pro991=) | |
| 3 | g.38581058G>T | CA352139478 | SCN5A | c.3101C>A (p.Pro1034Gln) c.2972C>A (p.Pro991Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581059G>A | CA352139481 | SCN5A | c.3100C>T (p.Pro1034Ser) c.2971C>T (p.Pro991Ser) | |
| 3 | g.38581059G>C | CA352139483 | SCN5A | c.3100C>G (p.Pro1034Ala) c.2971C>G (p.Pro991Ala) | gnomAD v4 |
| 3 | g.38581059G= | CA1358576422 | SCN5A | c.3100C= (p.Pro1034=) c.2971C= (p.Pro991=) | |
| 3 | g.38581059G>T | CA352139484 | SCN5A | c.3100C>A (p.Pro1034Thr) c.2971C>A (p.Pro991Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581060T>A | CA352139486 | SCN5A | c.3099A>T (p.Gln1033His) c.2970A>T (p.Gln990His) | |
| 3 | g.38581060T>C | CA433135323 | SCN5A | c.3099A>G (p.Gln1033=) c.2970A>G (p.Gln990=) | |
| 3 | g.38581060T>G | CA352139487 | SCN5A | c.3099A>C (p.Gln1033His) c.2970A>C (p.Gln990His) | |
| 3 | g.38581061T>A | CA352139490 | SCN5A | c.3098A>T (p.Gln1033Leu) c.2969A>T (p.Gln990Leu) | |
| 3 | g.38581061T>C | CA016812 | SCN5A | c.3098A>G (p.Gln1033Arg) c.2969A>G (p.Gln990Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581061T>G | CA352139492 | SCN5A | c.3098A>C (p.Gln1033Pro) c.2969A>C (p.Gln990Pro) | |
| 3 | g.38581061T= | CA1358576425 | SCN5A | c.3098A= (p.Gln1033=) c.2969A= (p.Gln990=) | |
| 3 | g.38581062G>A | CA352139499 | SCN5A | c.3097C>T (p.Gln1033Ter) c.2968C>T (p.Gln990Ter) | ClinVar dbSNP |
| 3 | g.38581062G>C | CA352139501 | SCN5A | c.3097C>G (p.Gln1033Glu) c.2968C>G (p.Gln990Glu) | gnomAD v4 |
| 3 | g.38581062G>T | CA352139503 | SCN5A | c.3097C>A (p.Gln1033Lys) c.2968C>A (p.Gln990Lys) | |
| 3 | g.38581063C>A | CA061265 | SCN5A | c.3096G>T (p.Glu1032Asp) c.2967G>T (p.Glu989Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581063C= | CA1358576442 | SCN5A | c.3096G= (p.Glu1032=) c.2967G= (p.Glu989=) | |
| 3 | g.38581063C>G | CA352139506 | SCN5A | c.3096G>C (p.Glu1032Asp) c.2967G>C (p.Glu989Asp) | |
| 3 | g.38581063C>T | CA433135332 | SCN5A | c.3096G>A (p.Glu1032=) c.2967G>A (p.Glu989=) | |
| 3 | g.38581064T>A | CA352139508 | SCN5A | c.3095A>T (p.Glu1032Val) c.2966A>T (p.Glu989Val) | |
| 3 | g.38581064T>C | CA352139509 | SCN5A | c.3095A>G (p.Glu1032Gly) c.2966A>G (p.Glu989Gly) | |
| 3 | g.38581064T>G | CA352139510 | SCN5A | c.3095A>C (p.Glu1032Ala) c.2966A>C (p.Glu989Ala) | |
| 3 | g.38581065C>A | CA352139511 | SCN5A | c.3094G>T (p.Glu1032Ter) c.2965G>T (p.Glu989Ter) | dbSNP |
| 3 | g.38581065C= | CA1358576448 | SCN5A | c.3094G= (p.Glu1032=) c.2965G= (p.Glu989=) | |
| 3 | g.38581065C>G | CA352139512 | SCN5A | c.3094G>C (p.Glu1032Gln) c.2965G>C (p.Glu989Gln) | gnomAD v4 |
| 3 | g.38581065C>T | CA016803 | SCN5A | c.3094G>A (p.Glu1032Lys) c.2965G>A (p.Glu989Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581066G>A | CA016796 | SCN5A | c.3093C>T (p.Gly1031=) c.2964C>T (p.Gly988=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581066G>C | CA433135340 | SCN5A | c.3093C>G (p.Gly1031=) c.2964C>G (p.Gly988=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581066G= | CA1358576455 | SCN5A | c.3093C= (p.Gly1031=) c.2964C= (p.Gly988=) | |
| 3 | g.38581066G>T | CA433135341 | SCN5A | c.3093C>A (p.Gly1031=) c.2964C>A (p.Gly988=) | |
| 3 | g.38581067C>A | CA352139519 | SCN5A | c.3092G>T (p.Gly1031Val) c.2963G>T (p.Gly988Val) | |
| 3 | g.38581067C>G | CA352139517 | SCN5A | c.3092G>C (p.Gly1031Ala) c.2963G>C (p.Gly988Ala) | |
| 3 | g.38581067C>T | CA352139521 | SCN5A | c.3092G>A (p.Gly1031Asp) c.2963G>A (p.Gly988Asp) | |
| 3 | g.38581068C>A | CA352139522 | SCN5A | c.3091G>T (p.Gly1031Cys) c.2962G>T (p.Gly988Cys) | |
| 3 | g.38581068C>G | CA352139527 | SCN5A | c.3091G>C (p.Gly1031Arg) c.2962G>C (p.Gly988Arg) | |
| 3 | g.38581068C>T | CA352139525 | SCN5A | c.3091G>A (p.Gly1031Ser) c.2962G>A (p.Gly988Ser) | ClinVar |
| 3 | g.38581069T>A | CA352139530 | SCN5A | c.3090A>T (p.Glu1030Asp) c.2961A>T (p.Glu987Asp) | |
| 3 | g.38581069T>C | CA433135349 | SCN5A | c.3090A>G (p.Glu1030=) c.2961A>G (p.Glu987=) | |
| 3 | g.38581069T>G | CA352139531 | SCN5A | c.3090A>C (p.Glu1030Asp) c.2961A>C (p.Glu987Asp) | |
| 3 | g.38581070T>A | CA352139534 | SCN5A | c.3089A>T (p.Glu1030Val) c.2960A>T (p.Glu987Val) | |
| 3 | g.38581070T>C | CA352139536 | SCN5A | c.3089A>G (p.Glu1030Gly) c.2960A>G (p.Glu987Gly) | |
| 3 | g.38581070T>G | CA352139538 | SCN5A | c.3089A>C (p.Glu1030Ala) c.2960A>C (p.Glu987Ala) | |
| 3 | g.38581071C>A | CA352139540 | SCN5A | c.3088G>T (p.Glu1030Ter) c.2959G>T (p.Glu987Ter) | dbSNP |
| 3 | g.38581071C= | CA1358576460 | SCN5A | c.3088G= (p.Glu1030=) c.2959G= (p.Glu987=) | |
| 3 | g.38581071C>G | CA352139542 | SCN5A | c.3088G>C (p.Glu1030Gln) c.2959G>C (p.Glu987Gln) | ClinVar dbSNP |
| 3 | g.38581071C>T | CA352139544 | SCN5A | c.3088G>A (p.Glu1030Lys) c.2959G>A (p.Glu987Lys) | |
| 3 | g.38581072C>A | CA352139546 | SCN5A | c.3087G>T (p.Glu1029Asp) c.2958G>T (p.Glu986Asp) | |
| 3 | g.38581072C>G | CA352139547 | SCN5A | c.3087G>C (p.Glu1029Asp) c.2958G>C (p.Glu986Asp) | |
| 3 | g.38581072C>T | CA433135360 | SCN5A | c.3087G>A (p.Glu1029=) c.2958G>A (p.Glu986=) | ClinVar dbSNP |
| 3 | g.38581073T>A | CA352139553 | SCN5A | c.3086A>T (p.Glu1029Val) c.2957A>T (p.Glu986Val) | |
| 3 | g.38581073T>C | CA352139551 | SCN5A | c.3086A>G (p.Glu1029Gly) c.2957A>G (p.Glu986Gly) | |
| 3 | g.38581073T>G | CA352139550 | SCN5A | c.3086A>C (p.Glu1029Ala) c.2957A>C (p.Glu986Ala) | |
| 3 | g.38581074C>A | CA352139555 | SCN5A | c.3085G>T (p.Glu1029Ter) c.2956G>T (p.Glu986Ter) | dbSNP |
| 3 | g.38581074C= | CA1358576465 | SCN5A | c.3085G= (p.Glu1029=) c.2956G= (p.Glu986=) | |
| 3 | g.38581074C>G | CA352139557 | SCN5A | c.3085G>C (p.Glu1029Gln) c.2956G>C (p.Glu986Gln) | |
| 3 | g.38581074C>T | CA16617949 | SCN5A | c.3085G>A (p.Glu1029Lys) c.2956G>A (p.Glu986Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581075A>C | CA352139560 | SCN5A | c.3084T>G (p.Phe1028Leu) c.2955T>G (p.Phe985Leu) | |
| 3 | g.38581075A>G | CA433135367 | SCN5A | c.3084T>C (p.Phe1028=) c.2955T>C (p.Phe985=) | |
| 3 | g.38581075A>T | CA352139561 | SCN5A | c.3084T>A (p.Phe1028Leu) c.2955T>A (p.Phe985Leu) | |
| 3 | g.38581076A>C | CA352139563 | SCN5A | c.3083T>G (p.Phe1028Cys) c.2954T>G (p.Phe985Cys) | gnomAD v4 |
| 3 | g.38581076A>G | CA352139565 | SCN5A | c.3083T>C (p.Phe1028Ser) c.2954T>C (p.Phe985Ser) | |
| 3 | g.38581076A>T | CA352139567 | SCN5A | c.3083T>A (p.Phe1028Tyr) c.2954T>A (p.Phe985Tyr) | |
| 3 | g.38581077A>C | CA352139570 | SCN5A | c.3082T>G (p.Phe1028Val) c.2953T>G (p.Phe985Val) | gnomAD v3 gnomAD v4 |
| 3 | g.38581077A>G | CA352139571 | SCN5A | c.3082T>C (p.Phe1028Leu) c.2953T>C (p.Phe985Leu) | |
| 3 | g.38581077A>T | CA352139573 | SCN5A | c.3082T>A (p.Phe1028Ile) c.2953T>A (p.Phe985Ile) | |
| 3 | g.38581077_38581078delinsAC | CA1358576469 | SCN5A | c.3081_3082delinsGT (p.Arg1027=) c.2952_2953delinsGT (p.Arg984=) | |
| 3 | g.38581078C>A | CA433135374 | SCN5A | c.3081G>T (p.Arg1027=) c.2952G>T (p.Arg984=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581078C= | CA1358576474 | SCN5A | c.3081G= (p.Arg1027=) c.2952G= (p.Arg984=) | |
| 3 | g.38581078C>G | CA433135376 | SCN5A | c.3081G>C (p.Arg1027=) c.2952G>C (p.Arg984=) | |
| 3 | g.38581078C>T | CA72926234 | SCN5A | c.3081G>A (p.Arg1027=) c.2952G>A (p.Arg984=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581079del | CA658657284 | SCN5A | c.3081del (p.Phe1028LeufsTer?) c.2952del (p.Phe985LeufsTer?) | ClinVar dbSNP |
| 3 | g.38581079C>A | CA352139577 | SCN5A | c.3080G>T (p.Arg1027Leu) c.2951G>T (p.Arg984Leu) | gnomAD v4 |
| 3 | g.38581079C= | CA1358576480 | SCN5A | c.3080G= (p.Arg1027=) c.2951G= (p.Arg984=) | |
| 3 | g.38581079C>G | CA72926239 | SCN5A | c.3080G>C (p.Arg1027Pro) c.2951G>C (p.Arg984Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581079C>T | CA061251 | SCN5A | c.3080G>A (p.Arg1027Gln) c.2951G>A (p.Arg984Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581080G>A | CA352139580 | SCN5A | c.3079C>T (p.Arg1027Trp) c.2950C>T (p.Arg984Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581080G>C | CA352139582 | SCN5A | c.3079C>G (p.Arg1027Gly) c.2950C>G (p.Arg984Gly) | |
| 3 | g.38581080G= | CA1358576493 | SCN5A | c.3079C= (p.Arg1027=) c.2950C= (p.Arg984=) | |
| 3 | g.38581080G>T | CA433135384 | SCN5A | c.3079C>A (p.Arg1027=) c.2950C>A (p.Arg984=) | dbSNP |
| 3 | g.38581081T>A | CA433135386 | SCN5A | c.3078A>T (p.Thr1026=) c.2949A>T (p.Thr983=) | |
| 3 | g.38581081T>C | CA061246 | SCN5A | c.3078A>G (p.Thr1026=) c.2949A>G (p.Thr983=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581081T>G | CA433135389 | SCN5A | c.3078A>C (p.Thr1026=) c.2949A>C (p.Thr983=) | |
| 3 | g.38581081T= | CA1358576501 | SCN5A | c.3078A= (p.Thr1026=) c.2949A= (p.Thr983=) | |
| 3 | g.38581082G>A | CA352139585 | SCN5A | c.3077C>T (p.Thr1026Ile) c.2948C>T (p.Thr983Ile) | |
| 3 | g.38581082G>C | CA352139588 | SCN5A | c.3077C>G (p.Thr1026Arg) c.2948C>G (p.Thr983Arg) | |
| 3 | g.38581082G>T | CA352139589 | SCN5A | c.3077C>A (p.Thr1026Lys) c.2948C>A (p.Thr983Lys) | |
| 3 | g.38581083T>A | CA352139596 | SCN5A | c.3076A>T (p.Thr1026Ser) c.2947A>T (p.Thr983Ser) | |
| 3 | g.38581083T>C | CA352139592 | SCN5A | c.3076A>G (p.Thr1026Ala) c.2947A>G (p.Thr983Ala) | gnomAD v4 |
| 3 | g.38581083T>G | CA352139594 | SCN5A | c.3076A>C (p.Thr1026Pro) c.2947A>C (p.Thr983Pro) | |
| 3 | g.38581084T>A | CA352139598 | SCN5A | c.3075A>T (p.Glu1025Asp) c.2946A>T (p.Glu982Asp) | |
| 3 | g.38581084T>C | CA433135397 | SCN5A | c.3075A>G (p.Glu1025=) c.2946A>G (p.Glu982=) | |
| 3 | g.38581084T>G | CA352139600 | SCN5A | c.3075A>C (p.Glu1025Asp) c.2946A>C (p.Glu982Asp) | |
| 3 | g.38581085T>A | CA352139603 | SCN5A | c.3074A>T (p.Glu1025Val) c.2945A>T (p.Glu982Val) | |
| 3 | g.38581085T>C | CA352139604 | SCN5A | c.3074A>G (p.Glu1025Gly) c.2945A>G (p.Glu982Gly) | |
| 3 | g.38581085T>G | CA352139606 | SCN5A | c.3074A>C (p.Glu1025Ala) c.2945A>C (p.Glu982Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581085T= | CA1358574291 | SCN5A | c.3074A= (p.Glu1025=) c.2945A= (p.Glu982=) | |
| 3 | g.38581086C>A | CA352139608 | SCN5A | c.3073G>T (p.Glu1025Ter) c.2944G>T (p.Glu982Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38581086C= | CA1358574292 | SCN5A | c.3073G= (p.Glu1025=) c.2944G= (p.Glu982=) | |
| 3 | g.38581086C>G | CA352139612 | SCN5A | c.3073G>C (p.Glu1025Gln) c.2944G>C (p.Glu982Gln) | |
| 3 | g.38581086C>T | CA72926247 | SCN5A | c.3073G>A (p.Glu1025Lys) c.2944G>A (p.Glu982Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581087C>A | CA352139614 | SCN5A | c.3072G>T (p.Lys1024Asn) c.2943G>T (p.Lys981Asn) | |
| 3 | g.38581087C= | CA1358574294 | SCN5A | c.3072G= (p.Lys1024=) c.2943G= (p.Lys981=) | |
| 3 | g.38581087C>G | CA352139615 | SCN5A | c.3072G>C (p.Lys1024Asn) c.2943G>C (p.Lys981Asn) | |
| 3 | g.38581087C>T | CA433135405 | SCN5A | c.3072G>A (p.Lys1024=) c.2943G>A (p.Lys981=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581088T>A | CA352139617 | SCN5A | c.3071A>T (p.Lys1024Met) c.2942A>T (p.Lys981Met) | |
| 3 | g.38581088T>C | CA352139618 | SCN5A | c.3071A>G (p.Lys1024Arg) c.2942A>G (p.Lys981Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581088T>G | CA352139619 | SCN5A | c.3071A>C (p.Lys1024Thr) c.2942A>C (p.Lys981Thr) | |
| 3 | g.38581088T= | CA1358574295 | SCN5A | c.3071A= (p.Lys1024=) c.2942A= (p.Lys981=) | |
| 3 | g.38581089T>A | CA352139621 | SCN5A | c.3070A>T (p.Lys1024Ter) c.2941A>T (p.Lys981Ter) | dbSNP |
| 3 | g.38581089T>C | CA352139623 | SCN5A | c.3070A>G (p.Lys1024Glu) c.2941A>G (p.Lys981Glu) | dbSNP |
| 3 | g.38581089T>G | CA352139625 | SCN5A | c.3070A>C (p.Lys1024Gln) c.2941A>C (p.Lys981Gln) | |
| 3 | g.38581089T= | CA1358574297 | SCN5A | c.3070A= (p.Lys1024=) c.2941A= (p.Lys981=) | |
| 3 | g.38581090G>A | CA433135412 | SCN5A | c.3069C>T (p.Arg1023=) c.2940C>T (p.Arg980=) | |
| 3 | g.38581090G>C | CA433135415 | SCN5A | c.3069C>G (p.Arg1023=) c.2940C>G (p.Arg980=) | |
| 3 | g.38581090G>T | CA433135418 | SCN5A | c.3069C>A (p.Arg1023=) c.2940C>A (p.Arg980=) | |
| 3 | g.38581091C>A | CA352139627 | SCN5A | c.3068G>T (p.Arg1023Leu) c.2939G>T (p.Arg980Leu) | gnomAD v4 |
| 3 | g.38581091C= | CA1358574305 | SCN5A | c.3068G= (p.Arg1023=) c.2939G= (p.Arg980=) | |
| 3 | g.38581091C>G | CA061242 | SCN5A | c.3068G>C (p.Arg1023Pro) c.2939G>C (p.Arg980Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581091C>T | CA016787 | SCN5A | c.3068G>A (p.Arg1023His) c.2939G>A (p.Arg980His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |