Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38580999_38581004del | CA2665113031 | SCN5A | c.3156_3161del (p.Glu1053_Ser1054del) c.3027_3032del (p.Glu1010_Ser1011del) | gnomAD v4 |
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=) |