Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560328_38560332dup | CA2665111487 | SCN5A | c.4057_4061dup (p.Phe1355ThrfsTer20) c.4060_4064dup (p.Phe1356ThrfsTer20) c.3898_3902dup (p.Phe1302ThrfsTer20) c.3931_3935dup (p.Phe1313ThrfsTer20) | gnomAD v4 |
3 | g.38560329G>A | CA352147219 | SCN5A | c.4060C>T (p.Leu1354Phe) c.4063C>T (p.Leu1355Phe) c.3901C>T (p.Leu1301Phe) c.3934C>T (p.Leu1312Phe) | |
3 | g.38560329G>C | CA352147223 | SCN5A | c.4060C>G (p.Leu1354Val) c.4063C>G (p.Leu1355Val) c.3901C>G (p.Leu1301Val) c.3934C>G (p.Leu1312Val) | |
3 | g.38560329G>T | CA352147220 | SCN5A | c.4060C>A (p.Leu1354Ile) c.4063C>A (p.Leu1355Ile) c.3901C>A (p.Leu1301Ile) c.3934C>A (p.Leu1312Ile) | |
3 | g.38560329_38560330delinsGG | CA1358565729 | SCN5A | c.4059_4060delinsCC (p.Asn1353=) c.4062_4063delinsCC (p.Asn1354=) c.3900_3901delinsCC (p.Asn1300=) c.3933_3934delinsCC (p.Asn1311=) | |
3 | g.38560329_38560330delinsTT | CA1139657974 | SCN5A | c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle) c.4062_4063delinsAA (p.Asn1354_Leu1355delinsLysIle) c.3900_3901delinsAA (p.Asn1300_Leu1301delinsLysIle) c.3933_3934delinsAA (p.Asn1311_Leu1312delinsLysIle) | ClinVar dbSNP |
3 | g.38560330G>A | CA433332450 | SCN5A | c.4059C>T (p.Asn1353=) c.4062C>T (p.Asn1354=) c.3900C>T (p.Asn1300=) c.3933C>T (p.Asn1311=) | |
3 | g.38560330G>C | CA352147227 | SCN5A | c.4059C>G (p.Asn1353Lys) c.4062C>G (p.Asn1354Lys) c.3900C>G (p.Asn1300Lys) c.3933C>G (p.Asn1311Lys) | |
3 | g.38560330G= | CA1358565730 | SCN5A | c.4059C= (p.Asn1353=) c.4062C= (p.Asn1354=) c.3900C= (p.Asn1300=) c.3933C= (p.Asn1311=) | |
3 | g.38560330G>T | CA352147230 | SCN5A | c.4059C>A (p.Asn1353Lys) c.4062C>A (p.Asn1354Lys) c.3900C>A (p.Asn1300Lys) c.3933C>A (p.Asn1311Lys) | dbSNP |
3 | g.38560331T>A | CA352147231 | SCN5A | c.4058A>T (p.Asn1353Ile) c.4061A>T (p.Asn1354Ile) c.3899A>T (p.Asn1300Ile) c.3932A>T (p.Asn1311Ile) | |
3 | g.38560331T>C | CA352147233 | SCN5A | c.4058A>G (p.Asn1353Ser) c.4061A>G (p.Asn1354Ser) c.3899A>G (p.Asn1300Ser) c.3932A>G (p.Asn1311Ser) | COSMIC COSMIC COSMIC |
3 | g.38560331T>G | CA352147235 | SCN5A | c.4058A>C (p.Asn1353Thr) c.4061A>C (p.Asn1354Thr) c.3899A>C (p.Asn1300Thr) c.3932A>C (p.Asn1311Thr) | COSMIC COSMIC COSMIC |
3 | g.38560332T>A | CA352147236 | SCN5A | c.4057A>T (p.Asn1353Tyr) c.4060A>T (p.Asn1354Tyr) c.3898A>T (p.Asn1300Tyr) c.3931A>T (p.Asn1311Tyr) | |
3 | g.38560332T>C | CA352147238 | SCN5A | c.4057A>G (p.Asn1353Asp) c.4060A>G (p.Asn1354Asp) c.3898A>G (p.Asn1300Asp) c.3931A>G (p.Asn1311Asp) | |
3 | g.38560332T>G | CA72944835 | SCN5A | c.4057A>C (p.Asn1353His) c.4060A>C (p.Asn1354His) c.3898A>C (p.Asn1300His) c.3931A>C (p.Asn1311His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560332T= | CA1358565731 | SCN5A | c.4057A= (p.Asn1353=) c.4060A= (p.Asn1354=) c.3898A= (p.Asn1300=) c.3931A= (p.Asn1311=) | |
3 | g.38560333C>A | CA433332451 | SCN5A | c.4056G>T (p.Val1352=) c.4059G>T (p.Val1353=) c.3897G>T (p.Val1299=) c.3930G>T (p.Val1310=) | ClinVar |
3 | g.38560333C= | CA1358565732 | SCN5A | c.4056G= (p.Val1352=) c.4059G= (p.Val1353=) c.3897G= (p.Val1299=) c.3930G= (p.Val1310=) | |
3 | g.38560333C>G | CA433332452 | SCN5A | c.4056G>C (p.Val1352=) c.4059G>C (p.Val1353=) c.3897G>C (p.Val1299=) c.3930G>C (p.Val1310=) | |
3 | g.38560333C>T | CA062777 | SCN5A | c.4056G>A (p.Val1352=) c.4059G>A (p.Val1353=) c.3897G>A (p.Val1299=) c.3930G>A (p.Val1310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560334A>C | CA352147243 | SCN5A | c.4055T>G (p.Val1352Gly) c.4058T>G (p.Val1353Gly) c.3896T>G (p.Val1299Gly) c.3929T>G (p.Val1310Gly) | |
3 | g.38560334A>G | CA352147246 | SCN5A | c.4055T>C (p.Val1352Ala) c.4058T>C (p.Val1353Ala) c.3896T>C (p.Val1299Ala) c.3929T>C (p.Val1310Ala) | |
3 | g.38560334A>T | CA352147248 | SCN5A | c.4055T>A (p.Val1352Glu) c.4058T>A (p.Val1353Glu) c.3896T>A (p.Val1299Glu) c.3929T>A (p.Val1310Glu) | |
3 | g.38560335C>A | CA352147250 | SCN5A | c.4054G>T (p.Val1352Leu) c.4057G>T (p.Val1353Leu) c.3895G>T (p.Val1299Leu) c.3928G>T (p.Val1310Leu) | |
3 | g.38560335C= | CA1358565733 | SCN5A | c.4054G= (p.Val1352=) c.4057G= (p.Val1353=) c.3895G= (p.Val1299=) c.3928G= (p.Val1310=) | |
3 | g.38560335C>G | CA352147252 | SCN5A | c.4054G>C (p.Val1352Leu) c.4057G>C (p.Val1353Leu) c.3895G>C (p.Val1299Leu) c.3928G>C (p.Val1310Leu) | |
3 | g.38560335C>T | CA017837 | SCN5A | c.4054G>A (p.Val1352Met) c.4057G>A (p.Val1353Met) c.3895G>A (p.Val1299Met) c.3928G>A (p.Val1310Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38560336G>A | CA017831 | SCN5A | c.4053C>T (p.Gly1351=) c.4056C>T (p.Gly1352=) c.3894C>T (p.Gly1298=) c.3927C>T (p.Gly1309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560336G>C | CA433332456 | SCN5A | c.4053C>G (p.Gly1351=) c.4056C>G (p.Gly1352=) c.3894C>G (p.Gly1298=) c.3927C>G (p.Gly1309=) | |
3 | g.38560336G= | CA1358565734 | SCN5A | c.4053C= (p.Gly1351=) c.4056C= (p.Gly1352=) c.3894C= (p.Gly1298=) c.3927C= (p.Gly1309=) | |
3 | g.38560336G>T | CA433332457 | SCN5A | c.4053C>A (p.Gly1351=) c.4056C>A (p.Gly1352=) c.3894C>A (p.Gly1298=) c.3927C>A (p.Gly1309=) | |
3 | g.38560337C>A | CA352147256 | SCN5A | c.4052G>T (p.Gly1351Val) c.4055G>T (p.Gly1352Val) c.3893G>T (p.Gly1298Val) c.3926G>T (p.Gly1309Val) | |
3 | g.38560337C>G | CA352147259 | SCN5A | c.4052G>C (p.Gly1351Ala) c.4055G>C (p.Gly1352Ala) c.3893G>C (p.Gly1298Ala) c.3926G>C (p.Gly1309Ala) | |
3 | g.38560337C>T | CA352147261 | SCN5A | c.4052G>A (p.Gly1351Asp) c.4055G>A (p.Gly1352Asp) c.3893G>A (p.Gly1298Asp) c.3926G>A (p.Gly1309Asp) | |
3 | g.38560338C>A | CA352147263 | SCN5A | c.4051G>T (p.Gly1351Cys) c.4054G>T (p.Gly1352Cys) c.3892G>T (p.Gly1298Cys) c.3925G>T (p.Gly1309Cys) | |
3 | g.38560338C>G | CA352147269 | SCN5A | c.4051G>C (p.Gly1351Arg) c.4054G>C (p.Gly1352Arg) c.3892G>C (p.Gly1298Arg) c.3925G>C (p.Gly1309Arg) | |
3 | g.38560338C>T | CA352147271 | SCN5A | c.4051G>A (p.Gly1351Ser) c.4054G>A (p.Gly1352Ser) c.3892G>A (p.Gly1298Ser) c.3925G>A (p.Gly1309Ser) | |
3 | g.38560339C>A | CA352147274 | SCN5A | c.4050G>T (p.Met1350Ile) c.4053G>T (p.Met1351Ile) c.3891G>T (p.Met1297Ile) c.3924G>T (p.Met1308Ile) | ClinVar |
3 | g.38560339C>G | CA352147276 | SCN5A | c.4050G>C (p.Met1350Ile) c.4053G>C (p.Met1351Ile) c.3891G>C (p.Met1297Ile) c.3924G>C (p.Met1308Ile) | |
3 | g.38560339C>T | CA352147278 | SCN5A | c.4050G>A (p.Met1350Ile) c.4053G>A (p.Met1351Ile) c.3891G>A (p.Met1297Ile) c.3924G>A (p.Met1308Ile) | |
3 | g.38560340A= | CA1358565735 | SCN5A | c.4049T= (p.Met1350=) c.4052T= (p.Met1351=) c.3890T= (p.Met1297=) c.3923T= (p.Met1308=) | |
3 | g.38560340A>C | CA017824 | SCN5A | c.4049T>G (p.Met1350Arg) c.4052T>G (p.Met1351Arg) c.3890T>G (p.Met1297Arg) c.3923T>G (p.Met1308Arg) | ClinVar dbSNP |
3 | g.38560340A>G | CA352147281 | SCN5A | c.4049T>C (p.Met1350Thr) c.4052T>C (p.Met1351Thr) c.3890T>C (p.Met1297Thr) c.3923T>C (p.Met1308Thr) | |
3 | g.38560340A>T | CA352147282 | SCN5A | c.4049T>A (p.Met1350Lys) c.4052T>A (p.Met1351Lys) c.3890T>A (p.Met1297Lys) c.3923T>A (p.Met1308Lys) | |
3 | g.38560341T>A | CA352147288 | SCN5A | c.4048A>T (p.Met1350Leu) c.4051A>T (p.Met1351Leu) c.3889A>T (p.Met1297Leu) c.3922A>T (p.Met1308Leu) | |
3 | g.38560341T>C | CA352147287 | SCN5A | c.4048A>G (p.Met1350Val) c.4051A>G (p.Met1351Val) c.3889A>G (p.Met1297Val) c.3922A>G (p.Met1308Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560341T>G | CA352147285 | SCN5A | c.4048A>C (p.Met1350Leu) c.4051A>C (p.Met1351Leu) c.3889A>C (p.Met1297Leu) c.3922A>C (p.Met1308Leu) | |
3 | g.38560341T= | CA1358565736 | SCN5A | c.4048A= (p.Met1350=) c.4051A= (p.Met1351=) c.3889A= (p.Met1297=) c.3922A= (p.Met1308=) | |
3 | g.38560342G>A | CA433332461 | SCN5A | c.4047C>T (p.Ile1349=) c.4050C>T (p.Ile1350=) c.3888C>T (p.Ile1296=) c.3921C>T (p.Ile1307=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38560342G>C | CA352147290 | SCN5A | c.4047C>G (p.Ile1349Met) c.4050C>G (p.Ile1350Met) c.3888C>G (p.Ile1296Met) c.3921C>G (p.Ile1307Met) | |
3 | g.38560342G= | CA1358565737 | SCN5A | c.4047C= (p.Ile1349=) c.4050C= (p.Ile1350=) c.3888C= (p.Ile1296=) c.3921C= (p.Ile1307=) | |
3 | g.38560342G>T | CA433332462 | SCN5A | c.4047C>A (p.Ile1349=) c.4050C>A (p.Ile1350=) c.3888C>A (p.Ile1296=) c.3921C>A (p.Ile1307=) | |
3 | g.38560343A= | CA1358565738 | SCN5A | c.4046T= (p.Ile1349=) c.4049T= (p.Ile1350=) c.3887T= (p.Ile1296=) c.3920T= (p.Ile1307=) | |
3 | g.38560343A>C | CA352147293 | SCN5A | c.4046T>G (p.Ile1349Ser) c.4049T>G (p.Ile1350Ser) c.3887T>G (p.Ile1296Ser) c.3920T>G (p.Ile1307Ser) | |
3 | g.38560343A>G | CA017817 | SCN5A | c.4046T>C (p.Ile1349Thr) c.4049T>C (p.Ile1350Thr) c.3887T>C (p.Ile1296Thr) c.3920T>C (p.Ile1307Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.38560343A>T | CA352147294 | SCN5A | c.4046T>A (p.Ile1349Asn) c.4049T>A (p.Ile1350Asn) c.3887T>A (p.Ile1296Asn) c.3920T>A (p.Ile1307Asn) | |
3 | g.38560344T>A | CA352147296 | SCN5A | c.4045A>T (p.Ile1349Phe) c.4048A>T (p.Ile1350Phe) c.3886A>T (p.Ile1296Phe) c.3919A>T (p.Ile1307Phe) | ClinVar dbSNP |
3 | g.38560344T>C | CA352147298 | SCN5A | c.4045A>G (p.Ile1349Val) c.4048A>G (p.Ile1350Val) c.3886A>G (p.Ile1296Val) c.3919A>G (p.Ile1307Val) | |
3 | g.38560344T>G | CA062762 | SCN5A | c.4045A>C (p.Ile1349Leu) c.4048A>C (p.Ile1350Leu) c.3886A>C (p.Ile1296Leu) c.3919A>C (p.Ile1307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560344T= | CA1358565739 | SCN5A | c.4045A= (p.Ile1349=) c.4048A= (p.Ile1350=) c.3886A= (p.Ile1296=) c.3919A= (p.Ile1307=) | |
3 | g.38560345G>A | CA433332466 | SCN5A | c.4044C>T (p.Ser1348=) c.4047C>T (p.Ser1349=) c.3885C>T (p.Ser1295=) c.3918C>T (p.Ser1306=) | ClinVar dbSNP gnomAD v4 |
3 | g.38560345G>C | CA352147301 | SCN5A | c.4044C>G (p.Ser1348Arg) c.4047C>G (p.Ser1349Arg) c.3885C>G (p.Ser1295Arg) c.3918C>G (p.Ser1306Arg) | |
3 | g.38560345G= | CA1358565740 | SCN5A | c.4044C= (p.Ser1348=) c.4047C= (p.Ser1349=) c.3885C= (p.Ser1295=) c.3918C= (p.Ser1306=) | |
3 | g.38560345G>T | CA352147303 | SCN5A | c.4044C>A (p.Ser1348Arg) c.4047C>A (p.Ser1349Arg) c.3885C>A (p.Ser1295Arg) c.3918C>A (p.Ser1306Arg) | |
3 | g.38560346C>A | CA352147313 | SCN5A | c.4043G>T (p.Ser1348Ile) c.4046G>T (p.Ser1349Ile) c.3884G>T (p.Ser1295Ile) c.3917G>T (p.Ser1306Ile) | |
3 | g.38560346C>G | CA352147314 | SCN5A | c.4043G>C (p.Ser1348Thr) c.4046G>C (p.Ser1349Thr) c.3884G>C (p.Ser1295Thr) c.3917G>C (p.Ser1306Thr) | |
3 | g.38560346C>T | CA352147316 | SCN5A | c.4043G>A (p.Ser1348Asn) c.4046G>A (p.Ser1349Asn) c.3884G>A (p.Ser1295Asn) c.3917G>A (p.Ser1306Asn) | gnomAD v4 |
3 | g.38560346_38560358delinsA | CA2739278200 | SCN5A | c.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe) c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe) c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe) c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe) | ClinVar |
3 | g.38560347_38560358del | CA2573136263 | SCN5A | c.4032_4043del (p.Trp1344_Ser1348delinsCys) c.4035_4046del (p.Trp1345_Ser1349delinsCys) c.3873_3884del (p.Trp1291_Ser1295delinsCys) c.3906_3917del (p.Trp1302_Ser1306delinsCys) | dbSNP |
3 | g.38560347T>A | CA352147324 | SCN5A | c.4042A>T (p.Ser1348Cys) c.4045A>T (p.Ser1349Cys) c.3883A>T (p.Ser1295Cys) c.3916A>T (p.Ser1306Cys) | |
3 | g.38560347T>C | CA352147321 | SCN5A | c.4042A>G (p.Ser1348Gly) c.4045A>G (p.Ser1349Gly) c.3883A>G (p.Ser1295Gly) c.3916A>G (p.Ser1306Gly) | |
3 | g.38560347T>G | CA352147319 | SCN5A | c.4042A>C (p.Ser1348Arg) c.4045A>C (p.Ser1349Arg) c.3883A>C (p.Ser1295Arg) c.3916A>C (p.Ser1306Arg) | |
3 | g.38560348G>A | CA062758 | SCN5A | c.4041C>T (p.Phe1347=) c.4044C>T (p.Phe1348=) c.3882C>T (p.Phe1294=) c.3915C>T (p.Phe1305=) | dbSNP ExAC gnomAD v2 |
3 | g.38560348G>C | CA352147328 | SCN5A | c.4041C>G (p.Phe1347Leu) c.4044C>G (p.Phe1348Leu) c.3882C>G (p.Phe1294Leu) c.3915C>G (p.Phe1305Leu) | |
3 | g.38560348G= | CA1358565741 | SCN5A | c.4041C= (p.Phe1347=) c.4044C= (p.Phe1348=) c.3882C= (p.Phe1294=) c.3915C= (p.Phe1305=) | |
3 | g.38560348G>T | CA352147332 | SCN5A | c.4041C>A (p.Phe1347Leu) c.4044C>A (p.Phe1348Leu) c.3882C>A (p.Phe1294Leu) c.3915C>A (p.Phe1305Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560357_38560368del | CA2755901968 | SCN5A | c.4030_4041del (p.Trp1344_Phe1347del) c.4033_4044del (p.Trp1345_Phe1348del) c.3871_3882del (p.Trp1291_Phe1294del) c.3904_3915del (p.Trp1302_Phe1305del) | |
3 | g.38560349A>C | CA352147335 | SCN5A | c.4040T>G (p.Phe1347Cys) c.4043T>G (p.Phe1348Cys) c.3881T>G (p.Phe1294Cys) c.3914T>G (p.Phe1305Cys) | |
3 | g.38560349A>G | CA352147337 | SCN5A | c.4040T>C (p.Phe1347Ser) c.4043T>C (p.Phe1348Ser) c.3881T>C (p.Phe1294Ser) c.3914T>C (p.Phe1305Ser) | |
3 | g.38560349A>T | CA352147340 | SCN5A | c.4040T>A (p.Phe1347Tyr) c.4043T>A (p.Phe1348Tyr) c.3881T>A (p.Phe1294Tyr) c.3914T>A (p.Phe1305Tyr) | |
3 | g.38560350A>C | CA352147343 | SCN5A | c.4039T>G (p.Phe1347Val) c.4042T>G (p.Phe1348Val) c.3880T>G (p.Phe1294Val) c.3913T>G (p.Phe1305Val) | |
3 | g.38560350A>G | CA352147345 | SCN5A | c.4039T>C (p.Phe1347Leu) c.4042T>C (p.Phe1348Leu) c.3880T>C (p.Phe1294Leu) c.3913T>C (p.Phe1305Leu) | |
3 | g.38560350A>T | CA352147353 | SCN5A | c.4039T>A (p.Phe1347Ile) c.4042T>A (p.Phe1348Ile) c.3880T>A (p.Phe1294Ile) c.3913T>A (p.Phe1305Ile) | |
3 | g.38560351G>A | CA433332468 | SCN5A | c.4038C>T (p.Ile1346=) c.4041C>T (p.Ile1347=) c.3879C>T (p.Ile1293=) c.3912C>T (p.Ile1304=) | |
3 | g.38560351G>C | CA352147356 | SCN5A | c.4038C>G (p.Ile1346Met) c.4041C>G (p.Ile1347Met) c.3879C>G (p.Ile1293Met) c.3912C>G (p.Ile1304Met) | |
3 | g.38560351G>T | CA433332467 | SCN5A | c.4038C>A (p.Ile1346=) c.4041C>A (p.Ile1347=) c.3879C>A (p.Ile1293=) c.3912C>A (p.Ile1304=) | |
3 | g.38560352A>C | CA352147357 | SCN5A | c.4037T>G (p.Ile1346Ser) c.4040T>G (p.Ile1347Ser) c.3878T>G (p.Ile1293Ser) c.3911T>G (p.Ile1304Ser) | |
3 | g.38560352A>G | CA352147360 | SCN5A | c.4037T>C (p.Ile1346Thr) c.4040T>C (p.Ile1347Thr) c.3878T>C (p.Ile1293Thr) c.3911T>C (p.Ile1304Thr) | ClinVar |
3 | g.38560352A>T | CA352147362 | SCN5A | c.4037T>A (p.Ile1346Asn) c.4040T>A (p.Ile1347Asn) c.3878T>A (p.Ile1293Asn) c.3911T>A (p.Ile1304Asn) | |
3 | g.38560353T>A | CA352147366 | SCN5A | c.4036A>T (p.Ile1346Phe) c.4039A>T (p.Ile1347Phe) c.3877A>T (p.Ile1293Phe) c.3910A>T (p.Ile1304Phe) | |
3 | g.38560353T>C | CA352147369 | SCN5A | c.4036A>G (p.Ile1346Val) c.4039A>G (p.Ile1347Val) c.3877A>G (p.Ile1293Val) c.3910A>G (p.Ile1304Val) | |
3 | g.38560353T>G | CA352147364 | SCN5A | c.4036A>C (p.Ile1346Leu) c.4039A>C (p.Ile1347Leu) c.3877A>C (p.Ile1293Leu) c.3910A>C (p.Ile1304Leu) | |
3 | g.38560354G>A | CA433332471 | SCN5A | c.4035C>T (p.Leu1345=) c.4038C>T (p.Leu1346=) c.3876C>T (p.Leu1292=) c.3909C>T (p.Leu1303=) | |
3 | g.38560354G>C | CA433332470 | SCN5A | c.4035C>G (p.Leu1345=) c.4038C>G (p.Leu1346=) c.3876C>G (p.Leu1292=) c.3909C>G (p.Leu1303=) | |
3 | g.38560354G>T | CA433332469 | SCN5A | c.4035C>A (p.Leu1345=) c.4038C>A (p.Leu1346=) c.3876C>A (p.Leu1292=) c.3909C>A (p.Leu1303=) | |
3 | g.38560355_38560356del | CA2586965782 | SCN5A | c.4034_4035del (p.Leu1345HisfsTer?) c.4037_4038del (p.Leu1346HisfsTer?) c.3875_3876del (p.Leu1292HisfsTer?) c.3908_3909del (p.Leu1303HisfsTer?) | |
3 | g.38560355A= | CA1358565742 | SCN5A | c.4034T= (p.Leu1345=) c.4037T= (p.Leu1346=) c.3875T= (p.Leu1292=) c.3908T= (p.Leu1303=) | |
3 | g.38560355A>C | CA352147370 | SCN5A | c.4034T>G (p.Leu1345Arg) c.4037T>G (p.Leu1346Arg) c.3875T>G (p.Leu1292Arg) c.3908T>G (p.Leu1303Arg) | |
3 | g.38560355A>G | CA017808 | SCN5A | c.4034T>C (p.Leu1345Pro) c.4037T>C (p.Leu1346Pro) c.3875T>C (p.Leu1292Pro) c.3908T>C (p.Leu1303Pro) | ClinVar dbSNP |
3 | g.38560355A>T | CA352147373 | SCN5A | c.4034T>A (p.Leu1345His) c.4037T>A (p.Leu1346His) c.3875T>A (p.Leu1292His) c.3908T>A (p.Leu1303His) | |
3 | g.38560356G>A | CA352147374 | SCN5A | c.4033C>T (p.Leu1345Phe) c.4036C>T (p.Leu1346Phe) c.3874C>T (p.Leu1292Phe) c.3907C>T (p.Leu1303Phe) | |
3 | g.38560356G>C | CA352147375 | SCN5A | c.4033C>G (p.Leu1345Val) c.4036C>G (p.Leu1346Val) c.3874C>G (p.Leu1292Val) c.3907C>G (p.Leu1303Val) | |
3 | g.38560356G= | CA1358565743 | SCN5A | c.4033C= (p.Leu1345=) c.4036C= (p.Leu1346=) c.3874C= (p.Leu1292=) c.3907C= (p.Leu1303=) | |
3 | g.38560356G>T | CA017802 | SCN5A | c.4033C>A (p.Leu1345Ile) c.4036C>A (p.Leu1346Ile) c.3874C>A (p.Leu1292Ile) c.3907C>A (p.Leu1303Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38560356_38560357delinsGC | CA1358565744 | SCN5A | c.4032_4033delinsGC (p.Trp1344=) c.4035_4036delinsGC (p.Trp1345=) c.3873_3874delinsGC (p.Trp1291=) c.3906_3907delinsGC (p.Trp1302=) | |
3 | g.38560357C>A | CA017796 | SCN5A | c.4032G>T (p.Trp1344Cys) c.4035G>T (p.Trp1345Cys) c.3873G>T (p.Trp1291Cys) c.3906G>T (p.Trp1302Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38560357C= | CA1358565745 | SCN5A | c.4032G= (p.Trp1344=) c.4035G= (p.Trp1345=) c.3873G= (p.Trp1291=) c.3906G= (p.Trp1302=) | |
3 | g.38560357C>G | CA352147380 | SCN5A | c.4032G>C (p.Trp1344Cys) c.4035G>C (p.Trp1345Cys) c.3873G>C (p.Trp1291Cys) c.3906G>C (p.Trp1302Cys) | |
3 | g.38560357C>T | CA017787 | SCN5A | c.4032G>A (p.Trp1344Ter) c.4035G>A (p.Trp1345Ter) c.3873G>A (p.Trp1291Ter) c.3906G>A (p.Trp1302Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38560358del | CA906900360 | SCN5A | c.4032del (p.Trp1344CysfsTer9) c.4035del (p.Trp1345CysfsTer9) c.3873del (p.Trp1291CysfsTer9) c.3906del (p.Trp1302CysfsTer9) | dbSNP |
3 | g.38560358C>A | CA352147387 | SCN5A | c.4031G>T (p.Trp1344Leu) c.4034G>T (p.Trp1345Leu) c.3872G>T (p.Trp1291Leu) c.3905G>T (p.Trp1302Leu) | |
3 | g.38560358C>G | CA352147389 | SCN5A | c.4031G>C (p.Trp1344Ser) c.4034G>C (p.Trp1345Ser) c.3872G>C (p.Trp1291Ser) c.3905G>C (p.Trp1302Ser) | |
3 | g.38560358C>T | CA352147392 | SCN5A | c.4031G>A (p.Trp1344Ter) c.4034G>A (p.Trp1345Ter) c.3872G>A (p.Trp1291Ter) c.3905G>A (p.Trp1302Ter) | |
3 | g.38560359A>C | CA352147394 | SCN5A | c.4030T>G (p.Trp1344Gly) c.4033T>G (p.Trp1345Gly) c.3871T>G (p.Trp1291Gly) c.3904T>G (p.Trp1302Gly) | |
3 | g.38560359A>G | CA352147396 | SCN5A | c.4030T>C (p.Trp1344Arg) c.4033T>C (p.Trp1345Arg) c.3871T>C (p.Trp1291Arg) c.3904T>C (p.Trp1302Arg) | |
3 | g.38560359A>T | CA352147401 | SCN5A | c.4030T>A (p.Trp1344Arg) c.4033T>A (p.Trp1345Arg) c.3871T>A (p.Trp1291Arg) c.3904T>A (p.Trp1302Arg) | |
3 | g.38560360G>A | CA433332472 | SCN5A | c.4029C>T (p.Phe1343=) c.4032C>T (p.Phe1344=) c.3870C>T (p.Phe1290=) c.3903C>T (p.Phe1301=) | |
3 | g.38560360G>C | CA352147403 | SCN5A | c.4029C>G (p.Phe1343Leu) c.4032C>G (p.Phe1344Leu) c.3870C>G (p.Phe1290Leu) c.3903C>G (p.Phe1301Leu) | gnomAD v4 |
3 | g.38560360G>T | CA352147404 | SCN5A | c.4029C>A (p.Phe1343Leu) c.4032C>A (p.Phe1344Leu) c.3870C>A (p.Phe1290Leu) c.3903C>A (p.Phe1301Leu) | |
3 | g.38560361A= | CA1358565746 | SCN5A | c.4028T= (p.Phe1343=) c.4031T= (p.Phe1344=) c.3869T= (p.Phe1290=) c.3902T= (p.Phe1301=) | |
3 | g.38560361A>C | CA352147407 | SCN5A | c.4028T>G (p.Phe1343Cys) c.4031T>G (p.Phe1344Cys) c.3869T>G (p.Phe1290Cys) c.3902T>G (p.Phe1301Cys) | |
3 | g.38560361A>G | CA017779 | SCN5A | c.4028T>C (p.Phe1343Ser) c.4031T>C (p.Phe1344Ser) c.3869T>C (p.Phe1290Ser) c.3902T>C (p.Phe1301Ser) | ClinVar dbSNP |
3 | g.38560361A>T | CA352147410 | SCN5A | c.4028T>A (p.Phe1343Tyr) c.4031T>A (p.Phe1344Tyr) c.3869T>A (p.Phe1290Tyr) c.3902T>A (p.Phe1301Tyr) | |
3 | g.38560362A= | CA1358565747 | SCN5A | c.4027T= (p.Phe1343=) c.4030T= (p.Phe1344=) c.3868T= (p.Phe1290=) c.3901T= (p.Phe1301=) | |
3 | g.38560362A>C | CA352147412 | SCN5A | c.4027T>G (p.Phe1343Val) c.4030T>G (p.Phe1344Val) c.3868T>G (p.Phe1290Val) c.3901T>G (p.Phe1301Val) | |
3 | g.38560362A>G | CA017772 | SCN5A | c.4027T>C (p.Phe1343Leu) c.4030T>C (p.Phe1344Leu) c.3868T>C (p.Phe1290Leu) c.3901T>C (p.Phe1301Leu) | ClinVar dbSNP |
3 | g.38560362A>T | CA352147414 | SCN5A | c.4027T>A (p.Phe1343Ile) c.4030T>A (p.Phe1344Ile) c.3868T>A (p.Phe1290Ile) c.3901T>A (p.Phe1301Ile) | gnomAD v4 |
3 | g.38560363G>A | CA433332473 | SCN5A | c.4026C>T (p.Ile1342=) c.4029C>T (p.Ile1343=) c.3867C>T (p.Ile1289=) c.3900C>T (p.Ile1300=) | |
3 | g.38560363G>C | CA352147416 | SCN5A | c.4026C>G (p.Ile1342Met) c.4029C>G (p.Ile1343Met) c.3867C>G (p.Ile1289Met) c.3900C>G (p.Ile1300Met) | |
3 | g.38560363G>T | CA433332474 | SCN5A | c.4026C>A (p.Ile1342=) c.4029C>A (p.Ile1343=) c.3867C>A (p.Ile1289=) c.3900C>A (p.Ile1300=) | ClinVar |
3 | g.38560364A>C | CA352147418 | SCN5A | c.4025T>G (p.Ile1342Ser) c.4028T>G (p.Ile1343Ser) c.3866T>G (p.Ile1289Ser) c.3899T>G (p.Ile1300Ser) | |
3 | g.38560364A>G | CA352147421 | SCN5A | c.4025T>C (p.Ile1342Thr) c.4028T>C (p.Ile1343Thr) c.3866T>C (p.Ile1289Thr) c.3899T>C (p.Ile1300Thr) | |
3 | g.38560364A>T | CA352147423 | SCN5A | c.4025T>A (p.Ile1342Asn) c.4028T>A (p.Ile1343Asn) c.3866T>A (p.Ile1289Asn) c.3899T>A (p.Ile1300Asn) | |
3 | g.38560365T>A | CA352147427 | SCN5A | c.4024A>T (p.Ile1342Phe) c.4027A>T (p.Ile1343Phe) c.3865A>T (p.Ile1289Phe) c.3898A>T (p.Ile1300Phe) | |
3 | g.38560365T>C | CA352147425 | SCN5A | c.4024A>G (p.Ile1342Val) c.4027A>G (p.Ile1343Val) c.3865A>G (p.Ile1289Val) c.3898A>G (p.Ile1300Val) | |
3 | g.38560365T>G | CA352147424 | SCN5A | c.4024A>C (p.Ile1342Leu) c.4027A>C (p.Ile1343Leu) c.3865A>C (p.Ile1289Leu) c.3898A>C (p.Ile1300Leu) | |
3 | g.38560366G>A | CA433332475 | SCN5A | c.4023C>T (p.Leu1341=) c.4026C>T (p.Leu1342=) c.3864C>T (p.Leu1288=) c.3897C>T (p.Leu1299=) | gnomAD v4 |
3 | g.38560366G>C | CA433332476 | SCN5A | c.4023C>G (p.Leu1341=) c.4026C>G (p.Leu1342=) c.3864C>G (p.Leu1288=) c.3897C>G (p.Leu1299=) | |
3 | g.38560366G>T | CA433332477 | SCN5A | c.4023C>A (p.Leu1341=) c.4026C>A (p.Leu1342=) c.3864C>A (p.Leu1288=) c.3897C>A (p.Leu1299=) | |
3 | g.38560367A>C | CA352147429 | SCN5A | c.4022T>G (p.Leu1341Arg) c.4025T>G (p.Leu1342Arg) c.3863T>G (p.Leu1288Arg) c.3896T>G (p.Leu1299Arg) | |
3 | g.38560367A>G | CA352147431 | SCN5A | c.4022T>C (p.Leu1341Pro) c.4025T>C (p.Leu1342Pro) c.3863T>C (p.Leu1288Pro) c.3896T>C (p.Leu1299Pro) | |
3 | g.38560367A>T | CA352147432 | SCN5A | c.4022T>A (p.Leu1341His) c.4025T>A (p.Leu1342His) c.3863T>A (p.Leu1288His) c.3896T>A (p.Leu1299His) | |
3 | g.38560368G>A | CA16611264 | SCN5A | c.4021C>T (p.Leu1341Phe) c.4024C>T (p.Leu1342Phe) c.3862C>T (p.Leu1288Phe) c.3895C>T (p.Leu1299Phe) | ClinVar dbSNP |
3 | g.38560368G>C | CA352147435 | SCN5A | c.4021C>G (p.Leu1341Val) c.4024C>G (p.Leu1342Val) c.3862C>G (p.Leu1288Val) c.3895C>G (p.Leu1299Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38560368G= | CA1358565748 | SCN5A | c.4021C= (p.Leu1341=) c.4024C= (p.Leu1342=) c.3862C= (p.Leu1288=) c.3895C= (p.Leu1299=) | |
3 | g.38560368G>T | CA352147438 | SCN5A | c.4021C>A (p.Leu1341Ile) c.4024C>A (p.Leu1342Ile) c.3862C>A (p.Leu1288Ile) c.3895C>A (p.Leu1299Ile) | |
3 | g.38560369G>A | CA433332478 | SCN5A | c.4020C>T (p.Cys1340=) c.4023C>T (p.Cys1341=) c.3861C>T (p.Cys1287=) c.3894C>T (p.Cys1298=) | |
3 | g.38560369G>C | CA352147439 | SCN5A | c.4020C>G (p.Cys1340Trp) c.4023C>G (p.Cys1341Trp) c.3861C>G (p.Cys1287Trp) c.3894C>G (p.Cys1298Trp) | |
3 | g.38560369G= | CA1358565749 | SCN5A | c.4020C= (p.Cys1340=) c.4023C= (p.Cys1341=) c.3861C= (p.Cys1287=) c.3894C= (p.Cys1298=) | |
3 | g.38560369G>T | CA352147440 | SCN5A | c.4020C>A (p.Cys1340Ter) c.4023C>A (p.Cys1341Ter) c.3861C>A (p.Cys1287Ter) c.3894C>A (p.Cys1298Ter) | dbSNP |
3 | g.38560370C>A | CA352147442 | SCN5A | c.4019G>T (p.Cys1340Phe) c.4022G>T (p.Cys1341Phe) c.3860G>T (p.Cys1287Phe) c.3893G>T (p.Cys1298Phe) | |
3 | g.38560370C>G | CA352147443 | SCN5A | c.4019G>C (p.Cys1340Ser) c.4022G>C (p.Cys1341Ser) c.3860G>C (p.Cys1287Ser) c.3893G>C (p.Cys1298Ser) | |
3 | g.38560370C>T | CA352147444 | SCN5A | c.4019G>A (p.Cys1340Tyr) c.4022G>A (p.Cys1341Tyr) c.3860G>A (p.Cys1287Tyr) c.3893G>A (p.Cys1298Tyr) | |
3 | g.38560371A>C | CA352147449 | SCN5A | c.4018T>G (p.Cys1340Gly) c.4021T>G (p.Cys1341Gly) c.3859T>G (p.Cys1287Gly) c.3892T>G (p.Cys1298Gly) | |
3 | g.38560371A>G | CA352147447 | SCN5A | c.4018T>C (p.Cys1340Arg) c.4021T>C (p.Cys1341Arg) c.3859T>C (p.Cys1287Arg) c.3892T>C (p.Cys1298Arg) | ClinVar dbSNP |
3 | g.38560371A>T | CA352147446 | SCN5A | c.4018T>A (p.Cys1340Ser) c.4021T>A (p.Cys1341Ser) c.3859T>A (p.Cys1287Ser) c.3892T>A (p.Cys1298Ser) | |
3 | g.38560372G>A | CA433332480 | SCN5A | c.4017C>T (p.Val1339=) c.4020C>T (p.Val1340=) c.3858C>T (p.Val1286=) c.3891C>T (p.Val1297=) | |
3 | g.38560372G>C | CA433332481 | SCN5A | c.4017C>G (p.Val1339=) c.4020C>G (p.Val1340=) c.3858C>G (p.Val1286=) c.3891C>G (p.Val1297=) | |
3 | g.38560372G>T | CA433332479 | SCN5A | c.4017C>A (p.Val1339=) c.4020C>A (p.Val1340=) c.3858C>A (p.Val1286=) c.3891C>A (p.Val1297=) | |
3 | g.38560373A>C | CA352147451 | SCN5A | c.4016T>G (p.Val1339Gly) c.4019T>G (p.Val1340Gly) c.3857T>G (p.Val1286Gly) c.3890T>G (p.Val1297Gly) | |
3 | g.38560373A>G | CA352147453 | SCN5A | c.4016T>C (p.Val1339Ala) c.4019T>C (p.Val1340Ala) c.3857T>C (p.Val1286Ala) c.3890T>C (p.Val1297Ala) | |
3 | g.38560373A>T | CA352147455 | SCN5A | c.4016T>A (p.Val1339Asp) c.4019T>A (p.Val1340Asp) c.3857T>A (p.Val1286Asp) c.3890T>A (p.Val1297Asp) | |
3 | g.38560374C>A | CA352147457 | SCN5A | c.4015G>T (p.Val1339Phe) c.4018G>T (p.Val1340Phe) c.3856G>T (p.Val1286Phe) c.3889G>T (p.Val1297Phe) | |
3 | g.38560374C= | CA1358565751 | SCN5A | c.4015G= (p.Val1339=) c.4018G= (p.Val1340=) c.3856G= (p.Val1286=) c.3889G= (p.Val1297=) | |
3 | g.38560374C>G | CA10587574 | SCN5A | c.4015G>C (p.Val1339Leu) c.4018G>C (p.Val1340Leu) c.3856G>C (p.Val1286Leu) c.3889G>C (p.Val1297Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38560374C>T | CA017761 | SCN5A | c.4015G>A (p.Val1339Ile) c.4018G>A (p.Val1340Ile) c.3856G>A (p.Val1286Ile) c.3889G>A (p.Val1297Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560374_38560377delinsCGAG | CA1358565750 | SCN5A | c.4012_4015delinsCTCG (p.Leu1338=) c.4015_4018delinsCTCG (p.Leu1339=) c.3853_3856delinsCTCG (p.Leu1285=) c.3886_3889delinsCTCG (p.Leu1296=) | |
3 | g.38560375G>A | CA72944906 | SCN5A | c.4014C>T (p.Leu1338=) c.4017C>T (p.Leu1339=) c.3855C>T (p.Leu1285=) c.3888C>T (p.Leu1296=) | ClinVar dbSNP gnomAD v4 |
3 | g.38560375G>C | CA433332482 | SCN5A | c.4014C>G (p.Leu1338=) c.4017C>G (p.Leu1339=) c.3855C>G (p.Leu1285=) c.3888C>G (p.Leu1296=) | |
3 | g.38560375G= | CA1358565752 | SCN5A | c.4014C= (p.Leu1338=) c.4017C= (p.Leu1339=) c.3855C= (p.Leu1285=) c.3888C= (p.Leu1296=) | |
3 | g.38560375G>T | CA433332483 | SCN5A | c.4014C>A (p.Leu1338=) c.4017C>A (p.Leu1339=) c.3855C>A (p.Leu1285=) c.3888C>A (p.Leu1296=) | |
3 | g.38560380_38560382del | CA542615541 | SCN5A | c.4012_4014del (p.Leu1338del) c.4015_4017del (p.Leu1339del) c.3853_3855del (p.Leu1285del) c.3886_3888del (p.Leu1296del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560376A>C | CA352147465 | SCN5A | c.4013T>G (p.Leu1338Arg) c.4016T>G (p.Leu1339Arg) c.3854T>G (p.Leu1285Arg) c.3887T>G (p.Leu1296Arg) | |
3 | g.38560376A>G | CA352147468 | SCN5A | c.4013T>C (p.Leu1338Pro) c.4016T>C (p.Leu1339Pro) c.3854T>C (p.Leu1285Pro) c.3887T>C (p.Leu1296Pro) | |
3 | g.38560376A>T | CA352147470 | SCN5A | c.4013T>A (p.Leu1338His) c.4016T>A (p.Leu1339His) c.3854T>A (p.Leu1285His) c.3887T>A (p.Leu1296His) | |
3 | g.38560377G>A | CA352147474 | SCN5A | c.4012C>T (p.Leu1338Phe) c.4015C>T (p.Leu1339Phe) c.3853C>T (p.Leu1285Phe) c.3886C>T (p.Leu1296Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560377G>C | CA352147475 | SCN5A | c.4012C>G (p.Leu1338Val) c.4015C>G (p.Leu1339Val) c.3853C>G (p.Leu1285Val) c.3886C>G (p.Leu1296Val) | |
3 | g.38560377G= | CA1358565753 | SCN5A | c.4012C= (p.Leu1338=) c.4015C= (p.Leu1339=) c.3853C= (p.Leu1285=) c.3886C= (p.Leu1296=) | |
3 | g.38560377G>T | CA352147478 | SCN5A | c.4012C>A (p.Leu1338Ile) c.4015C>A (p.Leu1339Ile) c.3853C>A (p.Leu1285Ile) c.3886C>A (p.Leu1296Ile) | |
3 | g.38560378G>A | CA433332484 | SCN5A | c.4011C>T (p.Leu1337=) c.4014C>T (p.Leu1338=) c.3852C>T (p.Leu1284=) c.3885C>T (p.Leu1295=) | |
3 | g.38560378G>C | CA433332485 | SCN5A | c.4011C>G (p.Leu1337=) c.4014C>G (p.Leu1338=) c.3852C>G (p.Leu1284=) c.3885C>G (p.Leu1295=) | gnomAD v4 |
3 | g.38560378G>T | CA433332486 | SCN5A | c.4011C>A (p.Leu1337=) c.4014C>A (p.Leu1338=) c.3852C>A (p.Leu1284=) c.3885C>A (p.Leu1295=) | |
3 | g.38560379A>C | CA352147482 | SCN5A | c.4010T>G (p.Leu1337Arg) c.4013T>G (p.Leu1338Arg) c.3851T>G (p.Leu1284Arg) c.3884T>G (p.Leu1295Arg) | |
3 | g.38560379A>G | CA352147484 | SCN5A | c.4010T>C (p.Leu1337Pro) c.4013T>C (p.Leu1338Pro) c.3851T>C (p.Leu1284Pro) c.3884T>C (p.Leu1295Pro) | |
3 | g.38560379A>T | CA352147480 | SCN5A | c.4010T>A (p.Leu1337His) c.4013T>A (p.Leu1338His) c.3851T>A (p.Leu1284His) c.3884T>A (p.Leu1295His) | |
3 | g.38560380G>A | CA352147488 | SCN5A | c.4009C>T (p.Leu1337Phe) c.4012C>T (p.Leu1338Phe) c.3850C>T (p.Leu1284Phe) c.3883C>T (p.Leu1295Phe) | gnomAD v4 |
3 | g.38560380G>C | CA017753 | SCN5A | c.4009C>G (p.Leu1337Val) c.4012C>G (p.Leu1338Val) c.3850C>G (p.Leu1284Val) c.3883C>G (p.Leu1295Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560380G= | CA1358565754 | SCN5A | c.4009C= (p.Leu1337=) c.4012C= (p.Leu1338=) c.3850C= (p.Leu1284=) c.3883C= (p.Leu1295=) | |
3 | g.38560380G>T | CA352147487 | SCN5A | c.4009C>A (p.Leu1337Ile) c.4012C>A (p.Leu1338Ile) c.3850C>A (p.Leu1284Ile) c.3883C>A (p.Leu1295Ile) | COSMIC |
3 | g.38560381G>A | CA433332487 | SCN5A | c.4008C>T (p.Val1336=) c.4011C>T (p.Val1337=) c.3849C>T (p.Val1283=) c.3882C>T (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>C | CA433332488 | SCN5A | c.4008C>G (p.Val1336=) c.4011C>G (p.Val1337=) c.3849C>G (p.Val1283=) c.3882C>G (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>T | CA433332489 | SCN5A | c.4008C>A (p.Val1336=) c.4011C>A (p.Val1337=) c.3849C>A (p.Val1283=) c.3882C>A (p.Val1294=) | |
3 | g.38560382A>C | CA352147490 | SCN5A | c.4007T>G (p.Val1336Gly) c.4010T>G (p.Val1337Gly) c.3848T>G (p.Val1283Gly) c.3881T>G (p.Val1294Gly) | |
3 | g.38560382A>G | CA352147492 | SCN5A | c.4007T>C (p.Val1336Ala) c.4010T>C (p.Val1337Ala) c.3848T>C (p.Val1283Ala) c.3881T>C (p.Val1294Ala) | |
3 | g.38560382A>T | CA352147494 | SCN5A | c.4007T>A (p.Val1336Asp) c.4010T>A (p.Val1337Asp) c.3848T>A (p.Val1283Asp) c.3881T>A (p.Val1294Asp) | |
3 | g.38560383C>A | CA352147501 | SCN5A | c.4006G>T (p.Val1336Phe) c.4009G>T (p.Val1337Phe) c.3847G>T (p.Val1283Phe) c.3880G>T (p.Val1294Phe) | |
3 | g.38560383C= | CA1358565755 | SCN5A | c.4006G= (p.Val1336=) c.4009G= (p.Val1337=) c.3847G= (p.Val1283=) c.3880G= (p.Val1294=) | |
3 | g.38560383C>G | CA352147498 | SCN5A | c.4006G>C (p.Val1336Leu) c.4009G>C (p.Val1337Leu) c.3847G>C (p.Val1283Leu) c.3880G>C (p.Val1294Leu) | |
3 | g.38560383C>T | CA352147496 | SCN5A | c.4006G>A (p.Val1336Ile) c.4009G>A (p.Val1337Ile) c.3847G>A (p.Val1283Ile) c.3880G>A (p.Val1294Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560384G>A | CA062720 | SCN5A | c.4005C>T (p.Asn1335=) c.4008C>T (p.Asn1336=) c.3846C>T (p.Asn1282=) c.3879C>T (p.Asn1293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560384G>C | CA352147504 | SCN5A | c.4005C>G (p.Asn1335Lys) c.4008C>G (p.Asn1336Lys) c.3846C>G (p.Asn1282Lys) c.3879C>G (p.Asn1293Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560384G= | CA1358565756 | SCN5A | c.4005C= (p.Asn1335=) c.4008C= (p.Asn1336=) c.3846C= (p.Asn1282=) c.3879C= (p.Asn1293=) | |
3 | g.38560384G>T | CA352147506 | SCN5A | c.4005C>A (p.Asn1335Lys) c.4008C>A (p.Asn1336Lys) c.3846C>A (p.Asn1282Lys) c.3879C>A (p.Asn1293Lys) | |
3 | g.38560385T>A | CA352147508 | SCN5A | c.4004A>T (p.Asn1335Ile) c.4007A>T (p.Asn1336Ile) c.3845A>T (p.Asn1282Ile) c.3878A>T (p.Asn1293Ile) | |
3 | g.38560385T>C | CA352147510 | SCN5A | c.4004A>G (p.Asn1335Ser) c.4007A>G (p.Asn1336Ser) c.3845A>G (p.Asn1282Ser) c.3878A>G (p.Asn1293Ser) | |
3 | g.38560385T>G | CA352147512 | SCN5A | c.4004A>C (p.Asn1335Thr) c.4007A>C (p.Asn1336Thr) c.3845A>C (p.Asn1282Thr) c.3878A>C (p.Asn1293Thr) | |
3 | g.38560386T>A | CA352147519 | SCN5A | c.4003A>T (p.Asn1335Tyr) c.4006A>T (p.Asn1336Tyr) c.3844A>T (p.Asn1282Tyr) c.3877A>T (p.Asn1293Tyr) | |
3 | g.38560386T>C | CA352147513 | SCN5A | c.4003A>G (p.Asn1335Asp) c.4006A>G (p.Asn1336Asp) c.3844A>G (p.Asn1282Asp) c.3877A>G (p.Asn1293Asp) | |
3 | g.38560386T>G | CA352147515 | SCN5A | c.4003A>C (p.Asn1335His) c.4006A>C (p.Asn1336His) c.3844A>C (p.Asn1282His) c.3877A>C (p.Asn1293His) | |
3 | g.38560387C>A | CA352147521 | SCN5A | c.4002G>T (p.Met1334Ile) c.4005G>T (p.Met1335Ile) c.3843G>T (p.Met1281Ile) c.3876G>T (p.Met1292Ile) | |
3 | g.38560387C>G | CA352147522 | SCN5A | c.4002G>C (p.Met1334Ile) c.4005G>C (p.Met1335Ile) c.3843G>C (p.Met1281Ile) c.3876G>C (p.Met1292Ile) | |
3 | g.38560387C>T | CA352147524 | SCN5A | c.4002G>A (p.Met1334Ile) c.4005G>A (p.Met1335Ile) c.3843G>A (p.Met1281Ile) c.3876G>A (p.Met1292Ile) | COSMIC COSMIC COSMIC |
3 | g.38560388A= | CA1358565757 | SCN5A | c.4001T= (p.Met1334=) c.4004T= (p.Met1335=) c.3842T= (p.Met1281=) c.3875T= (p.Met1292=) | |
3 | g.38560388A>C | CA352147527 | SCN5A | c.4001T>G (p.Met1334Arg) c.4004T>G (p.Met1335Arg) c.3842T>G (p.Met1281Arg) c.3875T>G (p.Met1292Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560388A>G | CA352147529 | SCN5A | c.4001T>C (p.Met1334Thr) c.4004T>C (p.Met1335Thr) c.3842T>C (p.Met1281Thr) c.3875T>C (p.Met1292Thr) | |
3 | g.38560388A>T | CA352147530 | SCN5A | c.4001T>A (p.Met1334Lys) c.4004T>A (p.Met1335Lys) c.3842T>A (p.Met1281Lys) c.3875T>A (p.Met1292Lys) | |
3 | g.38560389T>A | CA352147532 | SCN5A | c.4000A>T (p.Met1334Leu) c.4003A>T (p.Met1335Leu) c.3841A>T (p.Met1281Leu) c.3874A>T (p.Met1292Leu) | |
3 | g.38560389T>C | CA72944913 | SCN5A | c.4000A>G (p.Met1334Val) c.4003A>G (p.Met1335Val) c.3841A>G (p.Met1281Val) c.3874A>G (p.Met1292Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38560389T>G | CA352147534 | SCN5A | c.4000A>C (p.Met1334Leu) c.4003A>C (p.Met1335Leu) c.3841A>C (p.Met1281Leu) c.3874A>C (p.Met1292Leu) | gnomAD v4 |
3 | g.38560389T= | CA1358565758 | SCN5A | c.4000A= (p.Met1334=) c.4003A= (p.Met1335=) c.3841A= (p.Met1281=) c.3874A= (p.Met1292=) | |
3 | g.38560390G>A | CA433332405 | SCN5A | c.3999C>T (p.Ile1333=) c.4002C>T (p.Ile1334=) c.3840C>T (p.Ile1280=) c.3873C>T (p.Ile1291=) | ClinVar dbSNP |
3 | g.38560390G>C | CA352147536 | SCN5A | c.3999C>G (p.Ile1333Met) c.4002C>G (p.Ile1334Met) c.3840C>G (p.Ile1280Met) c.3873C>G (p.Ile1291Met) | |
3 | g.38560390G= | CA1358565759 | SCN5A | c.3999C= (p.Ile1333=) c.4002C= (p.Ile1334=) c.3840C= (p.Ile1280=) c.3873C= (p.Ile1291=) | |
3 | g.38560390G>T | CA433332407 | SCN5A | c.3999C>A (p.Ile1333=) c.4002C>A (p.Ile1334=) c.3840C>A (p.Ile1280=) c.3873C>A (p.Ile1291=) | |
3 | g.38560390_38560391dup | CA2665111488 | SCN5A | c.3998_3999dup (p.Met1334SerfsTer2) c.4001_4002dup (p.Met1335SerfsTer2) c.3839_3840dup (p.Met1281SerfsTer2) c.3872_3873dup (p.Met1292SerfsTer2) | gnomAD v4 |
3 | g.38560391A>C | CA352147540 | SCN5A | c.3998T>G (p.Ile1333Ser) c.4001T>G (p.Ile1334Ser) c.3839T>G (p.Ile1280Ser) c.3872T>G (p.Ile1291Ser) | |
3 | g.38560391A>G | CA352147541 | SCN5A | c.3998T>C (p.Ile1333Thr) c.4001T>C (p.Ile1334Thr) c.3839T>C (p.Ile1280Thr) c.3872T>C (p.Ile1291Thr) | |
3 | g.38560391A>T | CA352147542 | SCN5A | c.3998T>A (p.Ile1333Asn) c.4001T>A (p.Ile1334Asn) c.3839T>A (p.Ile1280Asn) c.3872T>A (p.Ile1291Asn) | |
3 | g.38560392T>A | CA352147545 | SCN5A | c.3997A>T (p.Ile1333Phe) c.4000A>T (p.Ile1334Phe) c.3838A>T (p.Ile1280Phe) c.3871A>T (p.Ile1291Phe) | |
3 | g.38560392T>C | CA017738 | SCN5A | c.3997A>G (p.Ile1333Val) c.4000A>G (p.Ile1334Val) c.3838A>G (p.Ile1280Val) c.3871A>G (p.Ile1291Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560392T>G | CA352147546 | SCN5A | c.3997A>C (p.Ile1333Leu) c.4000A>C (p.Ile1334Leu) c.3838A>C (p.Ile1280Leu) c.3871A>C (p.Ile1291Leu) | gnomAD v4 |
3 | g.38560392T= | CA1358565760 | SCN5A | c.3997A= (p.Ile1333=) c.4000A= (p.Ile1334=) c.3838A= (p.Ile1280=) c.3871A= (p.Ile1291=) | |
3 | g.38560392_38560397delinsTGGACG | CA1358565761 | SCN5A | c.3992_3997delinsCGTCCA (p.Pro1331=) c.3995_4000delinsCGTCCA (p.Pro1332=) c.3833_3838delinsCGTCCA (p.Pro1278=) c.3866_3871delinsCGTCCA (p.Pro1289=) | |
3 | g.38560393G>A | CA433332411 | SCN5A | c.3996C>T (p.Ser1332=) c.3999C>T (p.Ser1333=) c.3837C>T (p.Ser1279=) c.3870C>T (p.Ser1290=) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560393G>C | CA433332412 | SCN5A | c.3996C>G (p.Ser1332=) c.3999C>G (p.Ser1333=) c.3837C>G (p.Ser1279=) c.3870C>G (p.Ser1290=) | ClinVar dbSNP |
3 | g.38560393G= | CA1358565762 | SCN5A | c.3996C= (p.Ser1332=) c.3999C= (p.Ser1333=) c.3837C= (p.Ser1279=) c.3870C= (p.Ser1290=) | |
3 | g.38560393G>T | CA433332410 | SCN5A | c.3996C>A (p.Ser1332=) c.3999C>A (p.Ser1333=) c.3837C>A (p.Ser1279=) c.3870C>A (p.Ser1290=) | gnomAD v4 |
3 | g.38560396_38560400del | CA645372736 | SCN5A | c.3992_3996del (p.Pro1331HisfsTer?) c.3995_3999del (p.Pro1332HisfsTer?) c.3833_3837del (p.Pro1278HisfsTer?) c.3866_3870del (p.Pro1289HisfsTer?) | ClinVar dbSNP |
3 | g.38560394G>A | CA352147550 | SCN5A | c.3995C>T (p.Ser1332Phe) c.3998C>T (p.Ser1333Phe) c.3836C>T (p.Ser1279Phe) c.3869C>T (p.Ser1290Phe) | |
3 | g.38560394G>C | CA352147551 | SCN5A | c.3995C>G (p.Ser1332Cys) c.3998C>G (p.Ser1333Cys) c.3836C>G (p.Ser1279Cys) c.3869C>G (p.Ser1290Cys) | |
3 | g.38560394G= | CA1358565763 | SCN5A | c.3995C= (p.Ser1332=) c.3998C= (p.Ser1333=) c.3836C= (p.Ser1279=) c.3869C= (p.Ser1290=) | |
3 | g.38560394G>T | CA017732 | SCN5A | c.3995C>A (p.Ser1332Tyr) c.3998C>A (p.Ser1333Tyr) c.3836C>A (p.Ser1279Tyr) c.3869C>A (p.Ser1290Tyr) | ClinVar dbSNP COSMIC |
3 | g.38560395A>C | CA352147554 | SCN5A | c.3994T>G (p.Ser1332Ala) c.3997T>G (p.Ser1333Ala) c.3835T>G (p.Ser1279Ala) c.3868T>G (p.Ser1290Ala) | |
3 | g.38560395A>G | CA352147556 | SCN5A | c.3994T>C (p.Ser1332Pro) c.3997T>C (p.Ser1333Pro) c.3835T>C (p.Ser1279Pro) c.3868T>C (p.Ser1290Pro) | |
3 | g.38560395A>T | CA352147557 | SCN5A | c.3994T>A (p.Ser1332Thr) c.3997T>A (p.Ser1333Thr) c.3835T>A (p.Ser1279Thr) c.3868T>A (p.Ser1290Thr) | |
3 | g.38560396C>A | CA433332414 | SCN5A | c.3993G>T (p.Pro1331=) c.3996G>T (p.Pro1332=) c.3834G>T (p.Pro1278=) c.3867G>T (p.Pro1289=) | gnomAD v4 |
3 | g.38560396C= | CA1358565765 | SCN5A | c.3993G= (p.Pro1331=) c.3996G= (p.Pro1332=) c.3834G= (p.Pro1278=) c.3867G= (p.Pro1289=) | |
3 | g.38560396C>G | CA433332415 | SCN5A | c.3993G>C (p.Pro1331=) c.3996G>C (p.Pro1332=) c.3834G>C (p.Pro1278=) c.3867G>C (p.Pro1289=) | |
3 | g.38560396C>T | CA062702 | SCN5A | c.3993G>A (p.Pro1331=) c.3996G>A (p.Pro1332=) c.3834G>A (p.Pro1278=) c.3867G>A (p.Pro1289=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560396_38560397delinsCG | CA1358565764 | SCN5A | c.3992_3993delinsCG (p.Pro1331=) c.3995_3996delinsCG (p.Pro1332=) c.3833_3834delinsCG (p.Pro1278=) c.3866_3867delinsCG (p.Pro1289=) | |
3 | g.38560397G>A | CA017721 | SCN5A | c.3992C>T (p.Pro1331Leu) c.3995C>T (p.Pro1332Leu) c.3833C>T (p.Pro1278Leu) c.3866C>T (p.Pro1289Leu) | ClinVar dbSNP |
3 | g.38560397G>C | CA017715 | SCN5A | c.3992C>G (p.Pro1331Arg) c.3995C>G (p.Pro1332Arg) c.3833C>G (p.Pro1278Arg) c.3866C>G (p.Pro1289Arg) | ClinVar dbSNP |
3 | g.38560397G= | CA1358565766 | SCN5A | c.3992C= (p.Pro1331=) c.3995C= (p.Pro1332=) c.3833C= (p.Pro1278=) c.3866C= (p.Pro1289=) | |
3 | g.38560397G>T | CA352147562 | SCN5A | c.3992C>A (p.Pro1331Gln) c.3995C>A (p.Pro1332Gln) c.3833C>A (p.Pro1278Gln) c.3866C>A (p.Pro1289Gln) | |
3 | g.38560399del | CA017726 | SCN5A | c.3992del (p.Pro1331ArgfsTer4) c.3995del (p.Pro1332ArgfsTer4) c.3833del (p.Pro1278ArgfsTer4) c.3866del (p.Pro1289ArgfsTer4) | ClinVar dbSNP |
3 | g.38560398G>A | CA017710 | SCN5A | c.3991C>T (p.Pro1331Ser) c.3994C>T (p.Pro1332Ser) c.3832C>T (p.Pro1278Ser) c.3865C>T (p.Pro1289Ser) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38560398G>C | CA352147568 | SCN5A | c.3991C>G (p.Pro1331Ala) c.3994C>G (p.Pro1332Ala) c.3832C>G (p.Pro1278Ala) c.3865C>G (p.Pro1289Ala) | |
3 | g.38560398G= | CA1358565767 | SCN5A | c.3991C= (p.Pro1331=) c.3994C= (p.Pro1332=) c.3832C= (p.Pro1278=) c.3865C= (p.Pro1289=) | |
3 | g.38560398G>T | CA352147566 | SCN5A | c.3991C>A (p.Pro1331Thr) c.3994C>A (p.Pro1332Thr) c.3832C>A (p.Pro1278Thr) c.3865C>A (p.Pro1289Thr) | |
3 | g.38560399G>A | CA433332419 | SCN5A | c.3990C>T (p.Ile1330=) c.3993C>T (p.Ile1331=) c.3831C>T (p.Ile1277=) c.3864C>T (p.Ile1288=) | ClinVar |
3 | g.38560399G>C | CA72944955 | SCN5A | c.3990C>G (p.Ile1330Met) c.3993C>G (p.Ile1331Met) c.3831C>G (p.Ile1277Met) c.3864C>G (p.Ile1288Met) | dbSNP |
3 | g.38560399G= | CA1358565768 | SCN5A | c.3990C= (p.Ile1330=) c.3993C= (p.Ile1331=) c.3831C= (p.Ile1277=) c.3864C= (p.Ile1288=) | |
3 | g.38560399G>T | CA433332420 | SCN5A | c.3990C>A (p.Ile1330=) c.3993C>A (p.Ile1331=) c.3831C>A (p.Ile1277=) c.3864C>A (p.Ile1288=) | |
3 | g.38560400A>C | CA352147571 | SCN5A | c.3989T>G (p.Ile1330Ser) c.3992T>G (p.Ile1331Ser) c.3830T>G (p.Ile1277Ser) c.3863T>G (p.Ile1288Ser) | |
3 | g.38560400A>G | CA352147573 | SCN5A | c.3989T>C (p.Ile1330Thr) c.3992T>C (p.Ile1331Thr) c.3830T>C (p.Ile1277Thr) c.3863T>C (p.Ile1288Thr) | |
3 | g.38560400A>T | CA352147574 | SCN5A | c.3989T>A (p.Ile1330Asn) c.3992T>A (p.Ile1331Asn) c.3830T>A (p.Ile1277Asn) c.3863T>A (p.Ile1288Asn) | |
3 | g.38560401T>A | CA352147576 | SCN5A | c.3988A>T (p.Ile1330Phe) c.3991A>T (p.Ile1331Phe) c.3829A>T (p.Ile1277Phe) c.3862A>T (p.Ile1288Phe) | ClinVar |
3 | g.38560401T>C | CA352147578 | SCN5A | c.3988A>G (p.Ile1330Val) c.3991A>G (p.Ile1331Val) c.3829A>G (p.Ile1277Val) c.3862A>G (p.Ile1288Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560401T>G | CA352147580 | SCN5A | c.3988A>C (p.Ile1330Leu) c.3991A>C (p.Ile1331Leu) c.3829A>C (p.Ile1277Leu) c.3862A>C (p.Ile1288Leu) | |
3 | g.38560401T= | CA1358565769 | SCN5A | c.3988A= (p.Ile1330=) c.3991A= (p.Ile1331=) c.3829A= (p.Ile1277=) c.3862A= (p.Ile1288=) | |
3 | g.38560402G>A | CA433332422 | SCN5A | c.3987C>T (p.Ala1329=) c.3990C>T (p.Ala1330=) c.3828C>T (p.Ala1276=) c.3861C>T (p.Ala1287=) | |
3 | g.38560402G>C | CA433332423 | SCN5A | c.3987C>G (p.Ala1329=) c.3990C>G (p.Ala1330=) c.3828C>G (p.Ala1276=) c.3861C>G (p.Ala1287=) | |
3 | g.38560402G>T | CA433332424 | SCN5A | c.3987C>A (p.Ala1329=) c.3990C>A (p.Ala1330=) c.3828C>A (p.Ala1276=) c.3861C>A (p.Ala1287=) | |
3 | g.38560403G>A | CA352147583 | SCN5A | c.3986C>T (p.Ala1329Val) c.3989C>T (p.Ala1330Val) c.3827C>T (p.Ala1276Val) c.3860C>T (p.Ala1287Val) | |
3 | g.38560403G>C | CA352147584 | SCN5A | c.3986C>G (p.Ala1329Gly) c.3989C>G (p.Ala1330Gly) c.3827C>G (p.Ala1276Gly) c.3860C>G (p.Ala1287Gly) | |
3 | g.38560403G>T | CA352147586 | SCN5A | c.3986C>A (p.Ala1329Asp) c.3989C>A (p.Ala1330Asp) c.3827C>A (p.Ala1276Asp) c.3860C>A (p.Ala1287Asp) | |
3 | g.38560404C>A | CA352147588 | SCN5A | c.3985G>T (p.Ala1329Ser) c.3988G>T (p.Ala1330Ser) c.3826G>T (p.Ala1276Ser) c.3859G>T (p.Ala1287Ser) | |
3 | g.38560404C= | CA1358565770 | SCN5A | c.3985G= (p.Ala1329=) c.3988G= (p.Ala1330=) c.3826G= (p.Ala1276=) c.3859G= (p.Ala1287=) | |
3 | g.38560404C>G | CA017704 | SCN5A | c.3985G>C (p.Ala1329Pro) c.3988G>C (p.Ala1330Pro) c.3826G>C (p.Ala1276Pro) c.3859G>C (p.Ala1287Pro) | ClinVar dbSNP |
3 | g.38560404C>T | CA017699 | SCN5A | c.3985G>A (p.Ala1329Thr) c.3988G>A (p.Ala1330Thr) c.3826G>A (p.Ala1276Thr) c.3859G>A (p.Ala1287Thr) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560405G>A | CA062697 | SCN5A | c.3984C>T (p.Gly1328=) c.3987C>T (p.Gly1329=) c.3825C>T (p.Gly1275=) c.3858C>T (p.Gly1286=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560405G>C | CA433332425 | SCN5A | c.3984C>G (p.Gly1328=) c.3987C>G (p.Gly1329=) c.3825C>G (p.Gly1275=) c.3858C>G (p.Gly1286=) | |
3 | g.38560405G= | CA1358565771 | SCN5A | c.3984C= (p.Gly1328=) c.3987C= (p.Gly1329=) c.3825C= (p.Gly1275=) c.3858C= (p.Gly1286=) | |
3 | g.38560405G>T | CA433332426 | SCN5A | c.3984C>A (p.Gly1328=) c.3987C>A (p.Gly1329=) c.3825C>A (p.Gly1275=) c.3858C>A (p.Gly1286=) | |
3 | g.38560406C>A | CA352147598 | SCN5A | c.3983G>T (p.Gly1328Val) c.3986G>T (p.Gly1329Val) c.3824G>T (p.Gly1275Val) c.3857G>T (p.Gly1286Val) | |
3 | g.38560406C>G | CA352147593 | SCN5A | c.3983G>C (p.Gly1328Ala) c.3986G>C (p.Gly1329Ala) c.3824G>C (p.Gly1275Ala) c.3857G>C (p.Gly1286Ala) | |
3 | g.38560406C>T | CA352147595 | SCN5A | c.3983G>A (p.Gly1328Asp) c.3986G>A (p.Gly1329Asp) c.3824G>A (p.Gly1275Asp) c.3857G>A (p.Gly1286Asp) | |
3 | g.38560407_38560452del | CA2665111489 | SCN5A | c.3961-23_3983del c.3964-23_3986del c.3802-23_3824del c.3835-23_3857del | gnomAD v4 |
3 | g.38560407C>A | CA352147600 | SCN5A | c.3982G>T (p.Gly1328Cys) c.3985G>T (p.Gly1329Cys) c.3823G>T (p.Gly1275Cys) c.3856G>T (p.Gly1286Cys) | |
3 | g.38560407C= | CA1358565772 | SCN5A | c.3982G= (p.Gly1328=) c.3985G= (p.Gly1329=) c.3823G= (p.Gly1275=) c.3856G= (p.Gly1286=) | |
3 | g.38560407C>G | CA352147602 | SCN5A | c.3982G>C (p.Gly1328Arg) c.3985G>C (p.Gly1329Arg) c.3823G>C (p.Gly1275Arg) c.3856G>C (p.Gly1286Arg) | |
3 | g.38560407C>T | CA017693 | SCN5A | c.3982G>A (p.Gly1328Ser) c.3985G>A (p.Gly1329Ser) c.3823G>A (p.Gly1275Ser) c.3856G>A (p.Gly1286Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560408C>A | CA433332432 | SCN5A | c.3981G>T (p.Val1327=) c.3984G>T (p.Val1328=) c.3822G>T (p.Val1274=) c.3855G>T (p.Val1285=) | |
3 | g.38560408C= | CA1358565773 | SCN5A | c.3981G= (p.Val1327=) c.3984G= (p.Val1328=) c.3822G= (p.Val1274=) c.3855G= (p.Val1285=) | |
3 | g.38560408C>G | CA433332433 | SCN5A | c.3981G>C (p.Val1327=) c.3984G>C (p.Val1328=) c.3822G>C (p.Val1274=) c.3855G>C (p.Val1285=) | |
3 | g.38560408C>T | CA433332431 | SCN5A | c.3981G>A (p.Val1327=) c.3984G>A (p.Val1328=) c.3822G>A (p.Val1274=) c.3855G>A (p.Val1285=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560409A= | CA1358565774 | SCN5A | c.3980T= (p.Val1327=) c.3983T= (p.Val1328=) c.3821T= (p.Val1274=) c.3854T= (p.Val1285=) | |
3 | g.38560409A>C | CA352147605 | SCN5A | c.3980T>G (p.Val1327Gly) c.3983T>G (p.Val1328Gly) c.3821T>G (p.Val1274Gly) c.3854T>G (p.Val1285Gly) | |
3 | g.38560409A>G | CA352147607 | SCN5A | c.3980T>C (p.Val1327Ala) c.3983T>C (p.Val1328Ala) c.3821T>C (p.Val1274Ala) c.3854T>C (p.Val1285Ala) | dbSNP gnomAD v4 |
3 | g.38560409A>T | CA352147608 | SCN5A | c.3980T>A (p.Val1327Glu) c.3983T>A (p.Val1328Glu) c.3821T>A (p.Val1274Glu) c.3854T>A (p.Val1285Glu) | COSMIC COSMIC COSMIC |
3 | g.38560410C>A | CA352147611 | SCN5A | c.3979G>T (p.Val1327Leu) c.3982G>T (p.Val1328Leu) c.3820G>T (p.Val1274Leu) c.3853G>T (p.Val1285Leu) | |
3 | g.38560410C= | CA1358565775 | SCN5A | c.3979G= (p.Val1327=) c.3982G= (p.Val1328=) c.3820G= (p.Val1274=) c.3853G= (p.Val1285=) | |
3 | g.38560410C>G | CA352147613 | SCN5A | c.3979G>C (p.Val1327Leu) c.3982G>C (p.Val1328Leu) c.3820G>C (p.Val1274Leu) c.3853G>C (p.Val1285Leu) | |
3 | g.38560410C>T | CA352147615 | SCN5A | c.3979G>A (p.Val1327Met) c.3982G>A (p.Val1328Met) c.3820G>A (p.Val1274Met) c.3853G>A (p.Val1285Met) | dbSNP gnomAD v4 |
3 | g.38560411C>A | CA433332437 | SCN5A | c.3978G>T (p.Leu1326=) c.3981G>T (p.Leu1327=) c.3819G>T (p.Leu1273=) c.3852G>T (p.Leu1284=) | ClinVar dbSNP |
3 | g.38560411C= | CA1358565776 | SCN5A | c.3978G= (p.Leu1326=) c.3981G= (p.Leu1327=) c.3819G= (p.Leu1273=) c.3852G= (p.Leu1284=) | |
3 | g.38560411C>G | CA433332435 | SCN5A | c.3978G>C (p.Leu1326=) c.3981G>C (p.Leu1327=) c.3819G>C (p.Leu1273=) c.3852G>C (p.Leu1284=) | |
3 | g.38560411C>T | CA433332436 | SCN5A | c.3978G>A (p.Leu1326=) c.3981G>A (p.Leu1327=) c.3819G>A (p.Leu1273=) c.3852G>A (p.Leu1284=) | ClinVar |
3 | g.38560412A>C | CA352147617 | SCN5A | c.3977T>G (p.Leu1326Arg) c.3980T>G (p.Leu1327Arg) c.3818T>G (p.Leu1273Arg) c.3851T>G (p.Leu1284Arg) | |
3 | g.38560412A>G | CA352147618 | SCN5A | c.3977T>C (p.Leu1326Pro) c.3980T>C (p.Leu1327Pro) c.3818T>C (p.Leu1273Pro) c.3851T>C (p.Leu1284Pro) | |
3 | g.38560412A>T | CA352147620 | SCN5A | c.3977T>A (p.Leu1326Gln) c.3980T>A (p.Leu1327Gln) c.3818T>A (p.Leu1273Gln) c.3851T>A (p.Leu1284Gln) | |
3 | g.38560413G>A | CA433332438 | SCN5A | c.3976C>T (p.Leu1326=) c.3979C>T (p.Leu1327=) c.3817C>T (p.Leu1273=) c.3850C>T (p.Leu1284=) | |
3 | g.38560413G>C | CA352147624 | SCN5A | c.3976C>G (p.Leu1326Val) c.3979C>G (p.Leu1327Val) c.3817C>G (p.Leu1273Val) c.3850C>G (p.Leu1284Val) | |
3 | g.38560413G>T | CA352147622 | SCN5A | c.3976C>A (p.Leu1326Met) c.3979C>A (p.Leu1327Met) c.3817C>A (p.Leu1273Met) c.3850C>A (p.Leu1284Met) | |
3 | g.38560414G>A | CA433332440 | SCN5A | c.3975C>T (p.Ala1325=) c.3978C>T (p.Ala1326=) c.3816C>T (p.Ala1272=) c.3849C>T (p.Ala1283=) | |
3 | g.38560414G>C | CA433332441 | SCN5A | c.3975C>G (p.Ala1325=) c.3978C>G (p.Ala1326=) c.3816C>G (p.Ala1272=) c.3849C>G (p.Ala1283=) | |
3 | g.38560414G>T | CA433332439 | SCN5A | c.3975C>A (p.Ala1325=) c.3978C>A (p.Ala1326=) c.3816C>A (p.Ala1272=) c.3849C>A (p.Ala1283=) | |
3 | g.38560415G>A | CA352147625 | SCN5A | c.3974C>T (p.Ala1325Val) c.3977C>T (p.Ala1326Val) c.3815C>T (p.Ala1272Val) c.3848C>T (p.Ala1283Val) | |
3 | g.38560415G>C | CA352147626 | SCN5A | c.3974C>G (p.Ala1325Gly) c.3977C>G (p.Ala1326Gly) c.3815C>G (p.Ala1272Gly) c.3848C>G (p.Ala1283Gly) | |
3 | g.38560415G>T | CA352147627 | SCN5A | c.3974C>A (p.Ala1325Asp) c.3977C>A (p.Ala1326Asp) c.3815C>A (p.Ala1272Asp) c.3848C>A (p.Ala1283Asp) | ClinVar |
3 | g.38560416C>A | CA017686 | SCN5A | c.3973G>T (p.Ala1325Ser) c.3976G>T (p.Ala1326Ser) c.3814G>T (p.Ala1272Ser) c.3847G>T (p.Ala1283Ser) | ClinVar dbSNP |
3 | g.38560416C= | CA1358565777 | SCN5A | c.3973G= (p.Ala1325=) c.3976G= (p.Ala1326=) c.3814G= (p.Ala1272=) c.3847G= (p.Ala1283=) | |
3 | g.38560416C>G | CA352147628 | SCN5A | c.3973G>C (p.Ala1325Pro) c.3976G>C (p.Ala1326Pro) c.3814G>C (p.Ala1272Pro) c.3847G>C (p.Ala1283Pro) | |
3 | g.38560416C>T | CA352147629 | SCN5A | c.3973G>A (p.Ala1325Thr) c.3976G>A (p.Ala1326Thr) c.3814G>A (p.Ala1272Thr) c.3847G>A (p.Ala1283Thr) | |
3 | g.38560417A>C | CA352147631 | SCN5A | c.3972T>G (p.Asn1324Lys) c.3975T>G (p.Asn1325Lys) c.3813T>G (p.Asn1271Lys) c.3846T>G (p.Asn1282Lys) | ClinVar dbSNP |
3 | g.38560417A>G | CA433332449 | SCN5A | c.3972T>C (p.Asn1324=) c.3975T>C (p.Asn1325=) c.3813T>C (p.Asn1271=) c.3846T>C (p.Asn1282=) | gnomAD v4 |
3 | g.38560417A>T | CA352147630 | SCN5A | c.3972T>A (p.Asn1324Lys) c.3975T>A (p.Asn1325Lys) c.3813T>A (p.Asn1271Lys) c.3846T>A (p.Asn1282Lys) | |
3 | g.38560418T>A | CA352147632 | SCN5A | c.3971A>T (p.Asn1324Ile) c.3974A>T (p.Asn1325Ile) c.3812A>T (p.Asn1271Ile) c.3845A>T (p.Asn1282Ile) | |
3 | g.38560418T>C | CA017679 | SCN5A | c.3971A>G (p.Asn1324Ser) c.3974A>G (p.Asn1325Ser) c.3812A>G (p.Asn1271Ser) c.3845A>G (p.Asn1282Ser) | ClinVar dbSNP gnomAD v4 |
3 | g.38560418T>G | CA352147633 | SCN5A | c.3971A>C (p.Asn1324Thr) c.3974A>C (p.Asn1325Thr) c.3812A>C (p.Asn1271Thr) c.3845A>C (p.Asn1282Thr) | |
3 | g.38560418T= | CA1358565778 | SCN5A | c.3971A= (p.Asn1324=) c.3974A= (p.Asn1325=) c.3812A= (p.Asn1271=) c.3845A= (p.Asn1282=) | |
3 | g.38560419T>A | CA352147634 | SCN5A | c.3970A>T (p.Asn1324Tyr) c.3973A>T (p.Asn1325Tyr) c.3811A>T (p.Asn1271Tyr) c.3844A>T (p.Asn1282Tyr) | |
3 | g.38560419T>C | CA352147635 | SCN5A | c.3970A>G (p.Asn1324Asp) c.3973A>G (p.Asn1325Asp) c.3811A>G (p.Asn1271Asp) c.3844A>G (p.Asn1282Asp) | |
3 | g.38560419T>G | CA352147636 | SCN5A | c.3970A>C (p.Asn1324His) c.3973A>C (p.Asn1325His) c.3811A>C (p.Asn1271His) c.3844A>C (p.Asn1282His) | gnomAD v4 |
3 | g.38560420G>A | CA433332455 | SCN5A | c.3969C>T (p.Val1323=) c.3972C>T (p.Val1324=) c.3810C>T (p.Val1270=) c.3843C>T (p.Val1281=) | ClinVar dbSNP gnomAD v4 |
3 | g.38560420G>C | CA433332454 | SCN5A | c.3969C>G (p.Val1323=) c.3972C>G (p.Val1324=) c.3810C>G (p.Val1270=) c.3843C>G (p.Val1281=) | |
3 | g.38560420G>T | CA433332453 | SCN5A | c.3969C>A (p.Val1323=) c.3972C>A (p.Val1324=) c.3810C>A (p.Val1270=) c.3843C>A (p.Val1281=) | |
3 | g.38560420_38560426delinsGACCACC | CA1358565779 | SCN5A | c.3963_3969delinsGGTGGTC (p.Val1321=) c.3966_3972delinsGGTGGTC (p.Val1322=) c.3804_3810delinsGGTGGTC (p.Val1268=) c.3837_3843delinsGGTGGTC (p.Val1279=) | |
3 | g.38560421A>C | CA352147637 | SCN5A | c.3968T>G (p.Val1323Gly) c.3971T>G (p.Val1324Gly) c.3809T>G (p.Val1270Gly) c.3842T>G (p.Val1281Gly) | ClinVar |
3 | g.38560421A>G | CA352147639 | SCN5A | c.3968T>C (p.Val1323Ala) c.3971T>C (p.Val1324Ala) c.3809T>C (p.Val1270Ala) c.3842T>C (p.Val1281Ala) | |
3 | g.38560421A>T | CA352147638 | SCN5A | c.3968T>A (p.Val1323Asp) c.3971T>A (p.Val1324Asp) c.3809T>A (p.Val1270Asp) c.3842T>A (p.Val1281Asp) | |
3 | g.38560424_38560429del | CA1358565780 | SCN5A | c.3963_3968del c.3966_3971del c.3804_3809del c.3837_3842del | dbSNP |
3 | g.38560422C>A | CA352147640 | SCN5A | c.3967G>T (p.Val1323Phe) c.3970G>T (p.Val1324Phe) c.3808G>T (p.Val1270Phe) c.3841G>T (p.Val1281Phe) | |
3 | g.38560422C= | CA1358565781 | SCN5A | c.3967G= (p.Val1323=) c.3970G= (p.Val1324=) c.3808G= (p.Val1270=) c.3841G= (p.Val1281=) | |
3 | g.38560422C>G | CA352147641 | SCN5A | c.3967G>C (p.Val1323Leu) c.3970G>C (p.Val1324Leu) c.3808G>C (p.Val1270Leu) c.3841G>C (p.Val1281Leu) | |
3 | g.38560422C>T | CA352147642 | SCN5A | c.3967G>A (p.Val1323Ile) c.3970G>A (p.Val1324Ile) c.3808G>A (p.Val1270Ile) c.3841G>A (p.Val1281Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38560423C>A | CA433332458 | SCN5A | c.3966G>T (p.Val1322=) c.3969G>T (p.Val1323=) c.3807G>T (p.Val1269=) c.3840G>T (p.Val1280=) | |
3 | g.38560423C>G | CA433332459 | SCN5A | c.3966G>C (p.Val1322=) c.3969G>C (p.Val1323=) c.3807G>C (p.Val1269=) c.3840G>C (p.Val1280=) | |
3 | g.38560423C>T | CA433332460 | SCN5A | c.3966G>A (p.Val1322=) c.3969G>A (p.Val1323=) c.3807G>A (p.Val1269=) c.3840G>A (p.Val1280=) | |
3 | g.38560424A= | CA1358565782 | SCN5A | c.3965T= (p.Val1322=) c.3968T= (p.Val1323=) c.3806T= (p.Val1269=) c.3839T= (p.Val1280=) | |
3 | g.38560424A>C | CA017672 | SCN5A | c.3965T>G (p.Val1322Gly) c.3968T>G (p.Val1323Gly) c.3806T>G (p.Val1269Gly) c.3839T>G (p.Val1280Gly) | ClinVar dbSNP |
3 | g.38560424A>G | CA352147643 | SCN5A | c.3965T>C (p.Val1322Ala) c.3968T>C (p.Val1323Ala) c.3806T>C (p.Val1269Ala) c.3839T>C (p.Val1280Ala) | |
3 | g.38560424A>T | CA352147644 | SCN5A | c.3965T>A (p.Val1322Glu) c.3968T>A (p.Val1323Glu) c.3806T>A (p.Val1269Glu) c.3839T>A (p.Val1280Glu) | |
3 | g.38560425C>A | CA352147645 | SCN5A | c.3964G>T (p.Val1322Leu) c.3967G>T (p.Val1323Leu) c.3805G>T (p.Val1269Leu) c.3838G>T (p.Val1280Leu) | |
3 | g.38560425C>G | CA352147646 | SCN5A | c.3964G>C (p.Val1322Leu) c.3967G>C (p.Val1323Leu) c.3805G>C (p.Val1269Leu) c.3838G>C (p.Val1280Leu) | |
3 | g.38560425C>T | CA352147647 | SCN5A | c.3964G>A (p.Val1322Met) c.3967G>A (p.Val1323Met) c.3805G>A (p.Val1269Met) c.3838G>A (p.Val1280Met) | |
3 | g.38560426C>A | CA433332463 | SCN5A | c.3963G>T (p.Val1321=) c.3966G>T (p.Val1322=) c.3804G>T (p.Val1268=) c.3837G>T (p.Val1279=) | |
3 | g.38560426C>G | CA433332464 | SCN5A | c.3963G>C (p.Val1321=) c.3966G>C (p.Val1322=) c.3804G>C (p.Val1268=) c.3837G>C (p.Val1279=) | |
3 | g.38560426C>T | CA433332465 | SCN5A | c.3963G>A (p.Val1321=) c.3966G>A (p.Val1322=) c.3804G>A (p.Val1268=) c.3837G>A (p.Val1279=) | gnomAD v4 |
3 | g.38560427A>C | CA352147648 | SCN5A | c.3962T>G (p.Val1321Gly) c.3965T>G (p.Val1322Gly) c.3803T>G (p.Val1268Gly) c.3836T>G (p.Val1279Gly) | |
3 | g.38560427A>G | CA352147649 | SCN5A | c.3962T>C (p.Val1321Ala) c.3965T>C (p.Val1322Ala) c.3803T>C (p.Val1268Ala) c.3836T>C (p.Val1279Ala) | ClinVar dbSNP |
3 | g.38560427A>T | CA352147650 | SCN5A | c.3962T>A (p.Val1321Glu) c.3965T>A (p.Val1322Glu) c.3803T>A (p.Val1268Glu) c.3836T>A (p.Val1279Glu) | |
3 | g.38560427_38560430delinsACCT | CA1358565783 | SCN5A | c.3961-2_3962delinsAGGT c.3964-2_3965delinsAGGT c.3802-2_3803delinsAGGT c.3835-2_3836delinsAGGT | |
3 | g.38560428C>A | CA352147653 | SCN5A | c.3961G>T (p.Val1321Leu) c.3964G>T (p.Val1322Leu) c.3802G>T (p.Val1268Leu) c.3835G>T (p.Val1279Leu) | ClinVar dbSNP |
3 | g.38560428C>G | CA352147652 | SCN5A | c.3961G>C (p.Val1321Leu) c.3964G>C (p.Val1322Leu) c.3802G>C (p.Val1268Leu) c.3835G>C (p.Val1279Leu) | |
3 | g.38560428C>T | CA352147651 | SCN5A | c.3961G>A (p.Val1321Met) c.3964G>A (p.Val1322Met) c.3802G>A (p.Val1268Met) c.3835G>A (p.Val1279Met) | |
3 | g.38560429_38560431del | CA307969 | SCN5A | c.3961-2_3961del c.3964-2_3964del c.3802-2_3802del c.3835-2_3835del | ClinVar dbSNP |
3 | g.38560429C>A | CA352147654 | SCN5A | c.3961-1G>T (n.3961-1G>T) c.3964-1G>T (n.3964-1G>T) c.3802-1G>T (n.3802-1G>T) c.3835-1G>T (n.3835-1G>T) | |
3 | g.38560429C= | CA1358565784 | SCN5A | c.3961-1G= (n.3961-1G=) c.3964-1G= (n.3964-1G=) c.3802-1G= (n.3802-1G=) c.3835-1G= (n.3835-1G=) | |
3 | g.38560429C>G | CA352147655 | SCN5A | c.3961-1G>C (n.3961-1G>C) c.3964-1G>C (n.3964-1G>C) c.3802-1G>C (n.3802-1G>C) c.3835-1G>C (n.3835-1G>C) | |
3 | g.38560429C>T | CA352147656 | SCN5A | c.3961-1G>A (n.3961-1G>A) c.3964-1G>A (n.3964-1G>A) c.3802-1G>A (n.3802-1G>A) c.3835-1G>A (n.3835-1G>A) | dbSNP gnomAD v3 gnomAD v4 |