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.38555712T>A | CA352144293 | SCN5A | c.4483A>T (p.Asn1495Tyr) c.4486A>T (p.Asn1496Tyr) c.4432A>T (p.Asn1478Tyr) c.4324A>T (p.Asn1442Tyr) c.4357A>T (p.Asn1453Tyr) c.4429A>T (p.Asn1477Tyr) | |
| 3 | g.38555712T>C | CA72943048 | SCN5A | c.4483A>G (p.Asn1495Asp) c.4486A>G (p.Asn1496Asp) c.4432A>G (p.Asn1478Asp) c.4324A>G (p.Asn1442Asp) c.4357A>G (p.Asn1453Asp) c.4429A>G (p.Asn1477Asp) | dbSNP |
| 3 | g.38555712T>G | CA352144294 | SCN5A | c.4483A>C (p.Asn1495His) c.4486A>C (p.Asn1496His) c.4432A>C (p.Asn1478His) c.4324A>C (p.Asn1442His) c.4357A>C (p.Asn1453His) c.4429A>C (p.Asn1477His) | |
| 3 | g.38555712T= | CA1358562929 | SCN5A | c.4483A= (p.Asn1495=) c.4486A= (p.Asn1496=) c.4432A= (p.Asn1478=) c.4324A= (p.Asn1442=) c.4357A= (p.Asn1453=) c.4429A= (p.Asn1477=) | |
| 3 | g.38555713G>A | CA433135750 | SCN5A | c.4482C>T (p.Tyr1494=) c.4485C>T (p.Tyr1495=) c.4431C>T (p.Tyr1477=) c.4323C>T (p.Tyr1441=) c.4356C>T (p.Tyr1452=) c.4428C>T (p.Tyr1476=) | ClinVar gnomAD v4 |
| 3 | g.38555713G>C | CA352144297 | SCN5A | c.4482C>G (p.Tyr1494Ter) c.4485C>G (p.Tyr1495Ter) c.4431C>G (p.Tyr1477Ter) c.4323C>G (p.Tyr1441Ter) c.4356C>G (p.Tyr1452Ter) c.4428C>G (p.Tyr1476Ter) | |
| 3 | g.38555713G>T | CA352144295 | SCN5A | c.4482C>A (p.Tyr1494Ter) c.4485C>A (p.Tyr1495Ter) c.4431C>A (p.Tyr1477Ter) c.4323C>A (p.Tyr1441Ter) c.4356C>A (p.Tyr1452Ter) c.4428C>A (p.Tyr1476Ter) | |
| 3 | g.38555714T>A | CA352144299 | SCN5A | c.4481A>T (p.Tyr1494Phe) c.4484A>T (p.Tyr1495Phe) c.4430A>T (p.Tyr1477Phe) c.4322A>T (p.Tyr1441Phe) c.4355A>T (p.Tyr1452Phe) c.4427A>T (p.Tyr1476Phe) | |
| 3 | g.38555714T>C | CA72943054 | SCN5A | c.4481A>G (p.Tyr1494Cys) c.4484A>G (p.Tyr1495Cys) c.4430A>G (p.Tyr1477Cys) c.4322A>G (p.Tyr1441Cys) c.4355A>G (p.Tyr1452Cys) c.4427A>G (p.Tyr1476Cys) | ClinVar dbSNP |
| 3 | g.38555714T>G | CA018330 | SCN5A | c.4481A>C (p.Tyr1494Ser) c.4484A>C (p.Tyr1495Ser) c.4430A>C (p.Tyr1477Ser) c.4322A>C (p.Tyr1441Ser) c.4355A>C (p.Tyr1452Ser) c.4427A>C (p.Tyr1476Ser) | ClinVar dbSNP |
| 3 | g.38555714T= | CA1358562935 | SCN5A | c.4481A= (p.Tyr1494=) c.4484A= (p.Tyr1495=) c.4430A= (p.Tyr1477=) c.4322A= (p.Tyr1441=) c.4355A= (p.Tyr1452=) c.4427A= (p.Tyr1476=) | |
| 3 | g.38555715A>C | CA352144300 | SCN5A | c.4480T>G (p.Tyr1494Asp) c.4483T>G (p.Tyr1495Asp) c.4429T>G (p.Tyr1477Asp) c.4321T>G (p.Tyr1441Asp) c.4354T>G (p.Tyr1452Asp) c.4426T>G (p.Tyr1476Asp) | |
| 3 | g.38555715A>G | CA352144301 | SCN5A | c.4480T>C (p.Tyr1494His) c.4483T>C (p.Tyr1495His) c.4429T>C (p.Tyr1477His) c.4321T>C (p.Tyr1441His) c.4354T>C (p.Tyr1452His) c.4426T>C (p.Tyr1476His) | |
| 3 | g.38555715A>T | CA352144302 | SCN5A | c.4480T>A (p.Tyr1494Asn) c.4483T>A (p.Tyr1495Asn) c.4429T>A (p.Tyr1477Asn) c.4321T>A (p.Tyr1441Asn) c.4354T>A (p.Tyr1452Asn) c.4426T>A (p.Tyr1476Asn) | |
| 3 | g.38555716G>A | CA433135763 | SCN5A | c.4479C>T (p.Tyr1493=) c.4482C>T (p.Tyr1494=) c.4428C>T (p.Tyr1476=) c.4320C>T (p.Tyr1440=) c.4353C>T (p.Tyr1451=) c.4425C>T (p.Tyr1475=) | |
| 3 | g.38555716G>C | CA352144304 | SCN5A | c.4479C>G (p.Tyr1493Ter) c.4482C>G (p.Tyr1494Ter) c.4428C>G (p.Tyr1476Ter) c.4320C>G (p.Tyr1440Ter) c.4353C>G (p.Tyr1451Ter) c.4425C>G (p.Tyr1475Ter) | |
| 3 | g.38555716G>T | CA352144303 | SCN5A | c.4479C>A (p.Tyr1493Ter) c.4482C>A (p.Tyr1494Ter) c.4428C>A (p.Tyr1476Ter) c.4320C>A (p.Tyr1440Ter) c.4353C>A (p.Tyr1451Ter) c.4425C>A (p.Tyr1475Ter) | |
| 3 | g.38555717T>A | CA352144305 | SCN5A | c.4478A>T (p.Tyr1493Phe) c.4481A>T (p.Tyr1494Phe) c.4427A>T (p.Tyr1476Phe) c.4319A>T (p.Tyr1440Phe) c.4352A>T (p.Tyr1451Phe) c.4424A>T (p.Tyr1475Phe) | |
| 3 | g.38555717T>C | CA352144306 | SCN5A | c.4478A>G (p.Tyr1493Cys) c.4481A>G (p.Tyr1494Cys) c.4427A>G (p.Tyr1476Cys) c.4319A>G (p.Tyr1440Cys) c.4352A>G (p.Tyr1451Cys) c.4424A>G (p.Tyr1475Cys) | |
| 3 | g.38555717T>G | CA352144307 | SCN5A | c.4478A>C (p.Tyr1493Ser) c.4481A>C (p.Tyr1494Ser) c.4427A>C (p.Tyr1476Ser) c.4319A>C (p.Tyr1440Ser) c.4352A>C (p.Tyr1451Ser) c.4424A>C (p.Tyr1475Ser) | |
| 3 | g.38555718A= | CA1358562940 | SCN5A | c.4477T= (p.Tyr1493=) c.4480T= (p.Tyr1494=) c.4426T= (p.Tyr1476=) c.4318T= (p.Tyr1440=) c.4351T= (p.Tyr1451=) c.4423T= (p.Tyr1475=) | |
| 3 | g.38555718A>C | CA352144308 | SCN5A | c.4477T>G (p.Tyr1493Asp) c.4480T>G (p.Tyr1494Asp) c.4426T>G (p.Tyr1476Asp) c.4318T>G (p.Tyr1440Asp) c.4351T>G (p.Tyr1451Asp) c.4423T>G (p.Tyr1475Asp) | |
| 3 | g.38555718A>G | CA352144309 | SCN5A | c.4477T>C (p.Tyr1493His) c.4480T>C (p.Tyr1494His) c.4426T>C (p.Tyr1476His) c.4318T>C (p.Tyr1440His) c.4351T>C (p.Tyr1451His) c.4423T>C (p.Tyr1475His) | |
| 3 | g.38555718A>T | CA018323 | SCN5A | c.4477T>A (p.Tyr1493Asn) c.4480T>A (p.Tyr1494Asn) c.4426T>A (p.Tyr1476Asn) c.4318T>A (p.Tyr1440Asn) c.4351T>A (p.Tyr1451Asn) c.4423T>A (p.Tyr1475Asn) | ClinVar dbSNP |
| 3 | g.38555718_38555721delinsACTT | CA1358562942 | SCN5A | c.4474_4477delinsAAGT (p.Lys1492=) c.4477_4480delinsAAGT (p.Lys1493=) c.4423_4426delinsAAGT (p.Lys1475=) c.4315_4318delinsAAGT (p.Lys1439=) c.4348_4351delinsAAGT (p.Lys1450=) c.4420_4423delinsAAGT (p.Lys1474=) | |
| 3 | g.38555719C>A | CA352144310 | SCN5A | c.4476G>T (p.Lys1492Asn) c.4479G>T (p.Lys1493Asn) c.4425G>T (p.Lys1475Asn) c.4317G>T (p.Lys1439Asn) c.4350G>T (p.Lys1450Asn) c.4422G>T (p.Lys1474Asn) | |
| 3 | g.38555719C>G | CA352144311 | SCN5A | c.4476G>C (p.Lys1492Asn) c.4479G>C (p.Lys1493Asn) c.4425G>C (p.Lys1475Asn) c.4317G>C (p.Lys1439Asn) c.4350G>C (p.Lys1450Asn) c.4422G>C (p.Lys1474Asn) | |
| 3 | g.38555719C>T | CA433135774 | SCN5A | c.4476G>A (p.Lys1492=) c.4479G>A (p.Lys1493=) c.4425G>A (p.Lys1475=) c.4317G>A (p.Lys1439=) c.4350G>A (p.Lys1450=) c.4422G>A (p.Lys1474=) | COSMIC COSMIC COSMIC |
| 3 | g.38555724_38555726del | CA352086 | SCN5A | c.4474_4476del (p.Lys1492del) c.4477_4479del (p.Lys1493del) c.4423_4425del (p.Lys1475del) c.4315_4317del (p.Lys1439del) c.4348_4350del (p.Lys1450del) c.4420_4422del (p.Lys1474del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555720T>A | CA352144312 | SCN5A | c.4475A>T (p.Lys1492Met) c.4478A>T (p.Lys1493Met) c.4424A>T (p.Lys1475Met) c.4316A>T (p.Lys1439Met) c.4349A>T (p.Lys1450Met) c.4421A>T (p.Lys1474Met) | |
| 3 | g.38555720T>C | CA018316 | SCN5A | c.4475A>G (p.Lys1492Arg) c.4478A>G (p.Lys1493Arg) c.4424A>G (p.Lys1475Arg) c.4316A>G (p.Lys1439Arg) c.4349A>G (p.Lys1450Arg) c.4421A>G (p.Lys1474Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555720T>G | CA352144313 | SCN5A | c.4475A>C (p.Lys1492Thr) c.4478A>C (p.Lys1493Thr) c.4424A>C (p.Lys1475Thr) c.4316A>C (p.Lys1439Thr) c.4349A>C (p.Lys1450Thr) c.4421A>C (p.Lys1474Thr) | |
| 3 | g.38555720T= | CA1358562956 | SCN5A | c.4475A= (p.Lys1492=) c.4478A= (p.Lys1493=) c.4424A= (p.Lys1475=) c.4316A= (p.Lys1439=) c.4349A= (p.Lys1450=) c.4421A= (p.Lys1474=) | |
| 3 | g.38555721T>A | CA352144314 | SCN5A | c.4474A>T (p.Lys1492Ter) c.4477A>T (p.Lys1493Ter) c.4423A>T (p.Lys1475Ter) c.4315A>T (p.Lys1439Ter) c.4348A>T (p.Lys1450Ter) c.4420A>T (p.Lys1474Ter) | dbSNP |
| 3 | g.38555721T>C | CA352144315 | SCN5A | c.4474A>G (p.Lys1492Glu) c.4477A>G (p.Lys1493Glu) c.4423A>G (p.Lys1475Glu) c.4315A>G (p.Lys1439Glu) c.4348A>G (p.Lys1450Glu) c.4420A>G (p.Lys1474Glu) | |
| 3 | g.38555721T>G | CA352144316 | SCN5A | c.4474A>C (p.Lys1492Gln) c.4477A>C (p.Lys1493Gln) c.4423A>C (p.Lys1475Gln) c.4315A>C (p.Lys1439Gln) c.4348A>C (p.Lys1450Gln) c.4420A>C (p.Lys1474Gln) | |
| 3 | g.38555721T= | CA1358562963 | SCN5A | c.4474A= (p.Lys1492=) c.4477A= (p.Lys1493=) c.4423A= (p.Lys1475=) c.4315A= (p.Lys1439=) c.4348A= (p.Lys1450=) c.4420A= (p.Lys1474=) | |
| 3 | g.38555722C>A | CA352144317 | SCN5A | c.4473G>T (p.Lys1491Asn) c.4476G>T (p.Lys1492Asn) c.4422G>T (p.Lys1474Asn) c.4314G>T (p.Lys1438Asn) c.4347G>T (p.Lys1449Asn) c.4419G>T (p.Lys1473Asn) | |
| 3 | g.38555722C>G | CA352144318 | SCN5A | c.4473G>C (p.Lys1491Asn) c.4476G>C (p.Lys1492Asn) c.4422G>C (p.Lys1474Asn) c.4314G>C (p.Lys1438Asn) c.4347G>C (p.Lys1449Asn) c.4419G>C (p.Lys1473Asn) | |
| 3 | g.38555722C>T | CA433135782 | SCN5A | c.4473G>A (p.Lys1491=) c.4476G>A (p.Lys1492=) c.4422G>A (p.Lys1474=) c.4314G>A (p.Lys1438=) c.4347G>A (p.Lys1449=) c.4419G>A (p.Lys1473=) | |
| 3 | g.38555723T>A | CA352144319 | SCN5A | c.4472A>T (p.Lys1491Met) c.4475A>T (p.Lys1492Met) c.4421A>T (p.Lys1474Met) c.4313A>T (p.Lys1438Met) c.4346A>T (p.Lys1449Met) c.4418A>T (p.Lys1473Met) | |
| 3 | g.38555723T>C | CA352144320 | SCN5A | c.4472A>G (p.Lys1491Arg) c.4475A>G (p.Lys1492Arg) c.4421A>G (p.Lys1474Arg) c.4313A>G (p.Lys1438Arg) c.4346A>G (p.Lys1449Arg) c.4418A>G (p.Lys1473Arg) | gnomAD v4 |
| 3 | g.38555723T>G | CA352144321 | SCN5A | c.4472A>C (p.Lys1491Thr) c.4475A>C (p.Lys1492Thr) c.4421A>C (p.Lys1474Thr) c.4313A>C (p.Lys1438Thr) c.4346A>C (p.Lys1449Thr) c.4418A>C (p.Lys1473Thr) | |
| 3 | g.38555724T>A | CA352144324 | SCN5A | c.4471A>T (p.Lys1491Ter) c.4474A>T (p.Lys1492Ter) c.4420A>T (p.Lys1474Ter) c.4312A>T (p.Lys1438Ter) c.4345A>T (p.Lys1449Ter) c.4417A>T (p.Lys1473Ter) | dbSNP |
| 3 | g.38555724T>C | CA352144323 | SCN5A | c.4471A>G (p.Lys1491Glu) c.4474A>G (p.Lys1492Glu) c.4420A>G (p.Lys1474Glu) c.4312A>G (p.Lys1438Glu) c.4345A>G (p.Lys1449Glu) c.4417A>G (p.Lys1473Glu) | |
| 3 | g.38555724T>G | CA352144322 | SCN5A | c.4471A>C (p.Lys1491Gln) c.4474A>C (p.Lys1492Gln) c.4420A>C (p.Lys1474Gln) c.4312A>C (p.Lys1438Gln) c.4345A>C (p.Lys1449Gln) c.4417A>C (p.Lys1473Gln) | |
| 3 | g.38555724T= | CA1358562965 | SCN5A | c.4471A= (p.Lys1491=) c.4474A= (p.Lys1492=) c.4420A= (p.Lys1474=) c.4312A= (p.Lys1438=) c.4345A= (p.Lys1449=) c.4417A= (p.Lys1473=) | |
| 3 | g.38555725C>A | CA352144325 | SCN5A | c.4470G>T (p.Gln1490His) c.4473G>T (p.Gln1491His) c.4419G>T (p.Gln1473His) c.4311G>T (p.Gln1437His) c.4344G>T (p.Gln1448His) c.4416G>T (p.Gln1472His) | |
| 3 | g.38555725C>G | CA352144326 | SCN5A | c.4470G>C (p.Gln1490His) c.4473G>C (p.Gln1491His) c.4419G>C (p.Gln1473His) c.4311G>C (p.Gln1437His) c.4344G>C (p.Gln1448His) c.4416G>C (p.Gln1472His) | |
| 3 | g.38555725C>T | CA433135790 | SCN5A | c.4470G>A (p.Gln1490=) c.4473G>A (p.Gln1491=) c.4419G>A (p.Gln1473=) c.4311G>A (p.Gln1437=) c.4344G>A (p.Gln1448=) c.4416G>A (p.Gln1472=) | gnomAD v4 |
| 3 | g.38555725_38555726delinsCT | CA1358562967 | SCN5A | c.4469_4470delinsAG (p.Gln1490=) c.4472_4473delinsAG (p.Gln1491=) c.4418_4419delinsAG (p.Gln1473=) c.4310_4311delinsAG (p.Gln1437=) c.4343_4344delinsAG (p.Gln1448=) c.4415_4416delinsAG (p.Gln1472=) | |
| 3 | g.38555727_38555729del | CA2573136303 | SCN5A | c.4468_4470del (p.Gln1490del) c.4471_4473del (p.Gln1491del) c.4417_4419del (p.Gln1473del) c.4309_4311del (p.Gln1437del) c.4342_4344del (p.Gln1448del) c.4414_4416del (p.Gln1472del) | ClinVar dbSNP |
| 3 | g.38555726del | CA018308 | SCN5A | c.4469del (p.Gln1490ArgfsTer8) c.4472del (p.Gln1491ArgfsTer8) c.4418del (p.Gln1473ArgfsTer8) c.4310del (p.Gln1437ArgfsTer8) c.4343del (p.Gln1448ArgfsTer8) c.4415del (p.Gln1472ArgfsTer8) | ClinVar dbSNP |
| 3 | g.38555726T>A | CA352144327 | SCN5A | c.4469A>T (p.Gln1490Leu) c.4472A>T (p.Gln1491Leu) c.4418A>T (p.Gln1473Leu) c.4310A>T (p.Gln1437Leu) c.4343A>T (p.Gln1448Leu) c.4415A>T (p.Gln1472Leu) | |
| 3 | g.38555726T>C | CA352144328 | SCN5A | c.4469A>G (p.Gln1490Arg) c.4472A>G (p.Gln1491Arg) c.4418A>G (p.Gln1473Arg) c.4310A>G (p.Gln1437Arg) c.4343A>G (p.Gln1448Arg) c.4415A>G (p.Gln1472Arg) | |
| 3 | g.38555726T>G | CA352144329 | SCN5A | c.4469A>C (p.Gln1490Pro) c.4472A>C (p.Gln1491Pro) c.4418A>C (p.Gln1473Pro) c.4310A>C (p.Gln1437Pro) c.4343A>C (p.Gln1448Pro) c.4415A>C (p.Gln1472Pro) | |
| 3 | g.38555727G>A | CA352144330 | SCN5A | c.4468C>T (p.Gln1490Ter) c.4471C>T (p.Gln1491Ter) c.4417C>T (p.Gln1473Ter) c.4309C>T (p.Gln1437Ter) c.4342C>T (p.Gln1448Ter) c.4414C>T (p.Gln1472Ter) | ClinVar dbSNP |
| 3 | g.38555727G>C | CA352144331 | SCN5A | c.4468C>G (p.Gln1490Glu) c.4471C>G (p.Gln1491Glu) c.4417C>G (p.Gln1473Glu) c.4309C>G (p.Gln1437Glu) c.4342C>G (p.Gln1448Glu) c.4414C>G (p.Gln1472Glu) | |
| 3 | g.38555727G= | CA1358562975 | SCN5A | c.4468C= (p.Gln1490=) c.4471C= (p.Gln1491=) c.4417C= (p.Gln1473=) c.4309C= (p.Gln1437=) c.4342C= (p.Gln1448=) c.4414C= (p.Gln1472=) | |
| 3 | g.38555727G>T | CA352144332 | SCN5A | c.4468C>A (p.Gln1490Lys) c.4471C>A (p.Gln1491Lys) c.4417C>A (p.Gln1473Lys) c.4309C>A (p.Gln1437Lys) c.4342C>A (p.Gln1448Lys) c.4414C>A (p.Gln1472Lys) | |
| 3 | g.38555728C>A | CA352144333 | SCN5A | c.4467G>T (p.Glu1489Asp) c.4470G>T (p.Glu1490Asp) c.4416G>T (p.Glu1472Asp) c.4308G>T (p.Glu1436Asp) c.4341G>T (p.Glu1447Asp) c.4413G>T (p.Glu1471Asp) | |
| 3 | g.38555728C= | CA1358562981 | SCN5A | c.4467G= (p.Glu1489=) c.4470G= (p.Glu1490=) c.4416G= (p.Glu1472=) c.4308G= (p.Glu1436=) c.4341G= (p.Glu1447=) c.4413G= (p.Glu1471=) | |
| 3 | g.38555728C>G | CA352144334 | SCN5A | c.4467G>C (p.Glu1489Asp) c.4470G>C (p.Glu1490Asp) c.4416G>C (p.Glu1472Asp) c.4308G>C (p.Glu1436Asp) c.4341G>C (p.Glu1447Asp) c.4413G>C (p.Glu1471Asp) | COSMIC COSMIC COSMIC |
| 3 | g.38555728C>T | CA063244 | SCN5A | c.4467G>A (p.Glu1489=) c.4470G>A (p.Glu1490=) c.4416G>A (p.Glu1472=) c.4308G>A (p.Glu1436=) c.4341G>A (p.Glu1447=) c.4413G>A (p.Glu1471=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555729T>A | CA352144337 | SCN5A | c.4466A>T (p.Glu1489Val) c.4469A>T (p.Glu1490Val) c.4415A>T (p.Glu1472Val) c.4307A>T (p.Glu1436Val) c.4340A>T (p.Glu1447Val) c.4412A>T (p.Glu1471Val) | COSMIC COSMIC COSMIC |
| 3 | g.38555729T>C | CA352144336 | SCN5A | c.4466A>G (p.Glu1489Gly) c.4469A>G (p.Glu1490Gly) c.4415A>G (p.Glu1472Gly) c.4307A>G (p.Glu1436Gly) c.4340A>G (p.Glu1447Gly) c.4412A>G (p.Glu1471Gly) | |
| 3 | g.38555729T>G | CA352144335 | SCN5A | c.4466A>C (p.Glu1489Ala) c.4469A>C (p.Glu1490Ala) c.4415A>C (p.Glu1472Ala) c.4307A>C (p.Glu1436Ala) c.4340A>C (p.Glu1447Ala) c.4412A>C (p.Glu1471Ala) | |
| 3 | g.38555730C>A | CA352144338 | SCN5A | c.4465G>T (p.Glu1489Ter) c.4468G>T (p.Glu1490Ter) c.4414G>T (p.Glu1472Ter) c.4306G>T (p.Glu1436Ter) c.4339G>T (p.Glu1447Ter) c.4411G>T (p.Glu1471Ter) | dbSNP |
| 3 | g.38555730C= | CA1358562985 | SCN5A | c.4465G= (p.Glu1489=) c.4468G= (p.Glu1490=) c.4414G= (p.Glu1472=) c.4306G= (p.Glu1436=) c.4339G= (p.Glu1447=) c.4411G= (p.Glu1471=) | |
| 3 | g.38555730C>G | CA352144340 | SCN5A | c.4465G>C (p.Glu1489Gln) c.4468G>C (p.Glu1490Gln) c.4414G>C (p.Glu1472Gln) c.4306G>C (p.Glu1436Gln) c.4339G>C (p.Glu1447Gln) c.4411G>C (p.Glu1471Gln) | |
| 3 | g.38555730C>T | CA352144339 | SCN5A | c.4465G>A (p.Glu1489Lys) c.4468G>A (p.Glu1490Lys) c.4414G>A (p.Glu1472Lys) c.4306G>A (p.Glu1436Lys) c.4339G>A (p.Glu1447Lys) c.4411G>A (p.Glu1471Lys) | dbSNP gnomAD v4 |
| 3 | g.38555731C>A | CA018302 | SCN5A | c.4464G>T (p.Glu1488Asp) c.4467G>T (p.Glu1489Asp) c.4413G>T (p.Glu1471Asp) c.4305G>T (p.Glu1435Asp) c.4338G>T (p.Glu1446Asp) c.4410G>T (p.Glu1470Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38555731C= | CA1358562989 | SCN5A | c.4464G= (p.Glu1488=) c.4467G= (p.Glu1489=) c.4413G= (p.Glu1471=) c.4305G= (p.Glu1435=) c.4338G= (p.Glu1446=) c.4410G= (p.Glu1470=) | |
| 3 | g.38555731C>G | CA352144341 | SCN5A | c.4464G>C (p.Glu1488Asp) c.4467G>C (p.Glu1489Asp) c.4413G>C (p.Glu1471Asp) c.4305G>C (p.Glu1435Asp) c.4338G>C (p.Glu1446Asp) c.4410G>C (p.Glu1470Asp) | |
| 3 | g.38555731C>T | CA433135807 | SCN5A | c.4464G>A (p.Glu1488=) c.4467G>A (p.Glu1489=) c.4413G>A (p.Glu1471=) c.4305G>A (p.Glu1435=) c.4338G>A (p.Glu1446=) c.4410G>A (p.Glu1470=) | |
| 3 | g.38555732T>A | CA352144342 | SCN5A | c.4463A>T (p.Glu1488Val) c.4466A>T (p.Glu1489Val) c.4412A>T (p.Glu1471Val) c.4304A>T (p.Glu1435Val) c.4337A>T (p.Glu1446Val) c.4409A>T (p.Glu1470Val) | |
| 3 | g.38555732T>C | CA352144344 | SCN5A | c.4463A>G (p.Glu1488Gly) c.4466A>G (p.Glu1489Gly) c.4412A>G (p.Glu1471Gly) c.4304A>G (p.Glu1435Gly) c.4337A>G (p.Glu1446Gly) c.4409A>G (p.Glu1470Gly) | ClinVar |
| 3 | g.38555732T>G | CA352144343 | SCN5A | c.4463A>C (p.Glu1488Ala) c.4466A>C (p.Glu1489Ala) c.4412A>C (p.Glu1471Ala) c.4304A>C (p.Glu1435Ala) c.4337A>C (p.Glu1446Ala) c.4409A>C (p.Glu1470Ala) | |
| 3 | g.38555733C>A | CA352144345 | SCN5A | c.4462G>T (p.Glu1488Ter) c.4465G>T (p.Glu1489Ter) c.4411G>T (p.Glu1471Ter) c.4303G>T (p.Glu1435Ter) c.4336G>T (p.Glu1446Ter) c.4408G>T (p.Glu1470Ter) | dbSNP |
| 3 | g.38555733C= | CA1358562994 | SCN5A | c.4462G= (p.Glu1488=) c.4465G= (p.Glu1489=) c.4411G= (p.Glu1471=) c.4303G= (p.Glu1435=) c.4336G= (p.Glu1446=) c.4408G= (p.Glu1470=) | |
| 3 | g.38555733C>G | CA352144346 | SCN5A | c.4462G>C (p.Glu1488Gln) c.4465G>C (p.Glu1489Gln) c.4411G>C (p.Glu1471Gln) c.4303G>C (p.Glu1435Gln) c.4336G>C (p.Glu1446Gln) c.4408G>C (p.Glu1470Gln) | |
| 3 | g.38555733C>T | CA352144347 | SCN5A | c.4462G>A (p.Glu1488Lys) c.4465G>A (p.Glu1489Lys) c.4411G>A (p.Glu1471Lys) c.4303G>A (p.Glu1435Lys) c.4336G>A (p.Glu1446Lys) c.4408G>A (p.Glu1470Lys) | |
| 3 | g.38555734T>A | CA433135812 | SCN5A | c.4461A>T (p.Thr1487=) c.4464A>T (p.Thr1488=) c.4410A>T (p.Thr1470=) c.4302A>T (p.Thr1434=) c.4335A>T (p.Thr1445=) c.4407A>T (p.Thr1469=) | |
| 3 | g.38555734T>C | CA433135813 | SCN5A | c.4461A>G (p.Thr1487=) c.4464A>G (p.Thr1488=) c.4410A>G (p.Thr1470=) c.4302A>G (p.Thr1434=) c.4335A>G (p.Thr1445=) c.4407A>G (p.Thr1469=) | |
| 3 | g.38555734T>G | CA433135815 | SCN5A | c.4461A>C (p.Thr1487=) c.4464A>C (p.Thr1488=) c.4410A>C (p.Thr1470=) c.4302A>C (p.Thr1434=) c.4335A>C (p.Thr1445=) c.4407A>C (p.Thr1469=) | |
| 3 | g.38555735G>A | CA352144348 | SCN5A | c.4460C>T (p.Thr1487Ile) c.4463C>T (p.Thr1488Ile) c.4409C>T (p.Thr1470Ile) c.4301C>T (p.Thr1434Ile) c.4334C>T (p.Thr1445Ile) c.4406C>T (p.Thr1469Ile) | |
| 3 | g.38555735G>C | CA018296 | SCN5A | c.4460C>G (p.Thr1487Arg) c.4463C>G (p.Thr1488Arg) c.4409C>G (p.Thr1470Arg) c.4301C>G (p.Thr1434Arg) c.4334C>G (p.Thr1445Arg) c.4406C>G (p.Thr1469Arg) | ClinVar dbSNP |
| 3 | g.38555735G= | CA1358563001 | SCN5A | c.4460C= (p.Thr1487=) c.4463C= (p.Thr1488=) c.4409C= (p.Thr1470=) c.4301C= (p.Thr1434=) c.4334C= (p.Thr1445=) c.4406C= (p.Thr1469=) | |
| 3 | g.38555735G>T | CA352144349 | SCN5A | c.4460C>A (p.Thr1487Lys) c.4463C>A (p.Thr1488Lys) c.4409C>A (p.Thr1470Lys) c.4301C>A (p.Thr1434Lys) c.4334C>A (p.Thr1445Lys) c.4406C>A (p.Thr1469Lys) | ClinVar dbSNP |
| 3 | g.38555736T>A | CA352144350 | SCN5A | c.4459A>T (p.Thr1487Ser) c.4462A>T (p.Thr1488Ser) c.4408A>T (p.Thr1470Ser) c.4300A>T (p.Thr1434Ser) c.4333A>T (p.Thr1445Ser) c.4405A>T (p.Thr1469Ser) | |
| 3 | g.38555736T>C | CA018290 | SCN5A | c.4459A>G (p.Thr1487Ala) c.4462A>G (p.Thr1488Ala) c.4408A>G (p.Thr1470Ala) c.4300A>G (p.Thr1434Ala) c.4333A>G (p.Thr1445Ala) c.4405A>G (p.Thr1469Ala) | dbSNP |
| 3 | g.38555736T>G | CA352144351 | SCN5A | c.4459A>C (p.Thr1487Pro) c.4462A>C (p.Thr1488Pro) c.4408A>C (p.Thr1470Pro) c.4300A>C (p.Thr1434Pro) c.4333A>C (p.Thr1445Pro) c.4405A>C (p.Thr1469Pro) | |
| 3 | g.38555736T= | CA1358563008 | SCN5A | c.4459A= (p.Thr1487=) c.4462A= (p.Thr1488=) c.4408A= (p.Thr1470=) c.4300A= (p.Thr1434=) c.4333A= (p.Thr1445=) c.4405A= (p.Thr1469=) | |
| 3 | g.38555737C>A | CA352144354 | SCN5A | c.4458G>T (p.Met1486Ile) c.4461G>T (p.Met1487Ile) c.4407G>T (p.Met1469Ile) c.4299G>T (p.Met1433Ile) c.4332G>T (p.Met1444Ile) c.4404G>T (p.Met1468Ile) | |
| 3 | g.38555737C>G | CA352144353 | SCN5A | c.4458G>C (p.Met1486Ile) c.4461G>C (p.Met1487Ile) c.4407G>C (p.Met1469Ile) c.4299G>C (p.Met1433Ile) c.4332G>C (p.Met1444Ile) c.4404G>C (p.Met1468Ile) | |
| 3 | g.38555737C>T | CA352144352 | SCN5A | c.4458G>A (p.Met1486Ile) c.4461G>A (p.Met1487Ile) c.4407G>A (p.Met1469Ile) c.4299G>A (p.Met1433Ile) c.4332G>A (p.Met1444Ile) c.4404G>A (p.Met1468Ile) | |
| 3 | g.38555738A>C | CA352144355 | SCN5A | c.4457T>G (p.Met1486Arg) c.4460T>G (p.Met1487Arg) c.4406T>G (p.Met1469Arg) c.4298T>G (p.Met1433Arg) c.4331T>G (p.Met1444Arg) c.4403T>G (p.Met1468Arg) | |
| 3 | g.38555738A>G | CA352144356 | SCN5A | c.4457T>C (p.Met1486Thr) c.4460T>C (p.Met1487Thr) c.4406T>C (p.Met1469Thr) c.4298T>C (p.Met1433Thr) c.4331T>C (p.Met1444Thr) c.4403T>C (p.Met1468Thr) | |
| 3 | g.38555738A>T | CA352144357 | SCN5A | c.4457T>A (p.Met1486Lys) c.4460T>A (p.Met1487Lys) c.4406T>A (p.Met1469Lys) c.4298T>A (p.Met1433Lys) c.4331T>A (p.Met1444Lys) c.4403T>A (p.Met1468Lys) | |
| 3 | g.38555739T>A | CA352144358 | SCN5A | c.4456A>T (p.Met1486Leu) c.4459A>T (p.Met1487Leu) c.4405A>T (p.Met1469Leu) c.4297A>T (p.Met1433Leu) c.4330A>T (p.Met1444Leu) c.4402A>T (p.Met1468Leu) | |
| 3 | g.38555739T>C | CA352144359 | SCN5A | c.4456A>G (p.Met1486Val) c.4459A>G (p.Met1487Val) c.4405A>G (p.Met1469Val) c.4297A>G (p.Met1433Val) c.4330A>G (p.Met1444Val) c.4402A>G (p.Met1468Val) | |
| 3 | g.38555739T>G | CA018283 | SCN5A | c.4456A>C (p.Met1486Leu) c.4459A>C (p.Met1487Leu) c.4405A>C (p.Met1469Leu) c.4297A>C (p.Met1433Leu) c.4330A>C (p.Met1444Leu) c.4402A>C (p.Met1468Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555739T= | CA1358563009 | SCN5A | c.4456A= (p.Met1486=) c.4459A= (p.Met1487=) c.4405A= (p.Met1469=) c.4297A= (p.Met1433=) c.4330A= (p.Met1444=) c.4402A= (p.Met1468=) | |
| 3 | g.38555740G>A | CA433135829 | SCN5A | c.4455C>T (p.Phe1485=) c.4458C>T (p.Phe1486=) c.4404C>T (p.Phe1468=) c.4296C>T (p.Phe1432=) c.4329C>T (p.Phe1443=) c.4401C>T (p.Phe1467=) | COSMIC |
| 3 | g.38555740G>C | CA352144360 | SCN5A | c.4455C>G (p.Phe1485Leu) c.4458C>G (p.Phe1486Leu) c.4404C>G (p.Phe1468Leu) c.4296C>G (p.Phe1432Leu) c.4329C>G (p.Phe1443Leu) c.4401C>G (p.Phe1467Leu) | |
| 3 | g.38555740G>T | CA352144361 | SCN5A | c.4455C>A (p.Phe1485Leu) c.4458C>A (p.Phe1486Leu) c.4404C>A (p.Phe1468Leu) c.4296C>A (p.Phe1432Leu) c.4329C>A (p.Phe1443Leu) c.4401C>A (p.Phe1467Leu) | |
| 3 | g.38555742_38555744del | CA2586965715 | SCN5A | c.4453_4455del (p.Phe1485del) c.4456_4458del (p.Phe1486del) c.4402_4404del (p.Phe1468del) c.4294_4296del (p.Phe1432del) c.4327_4329del (p.Phe1443del) c.4399_4401del (p.Phe1467del) | |
| 3 | g.38555741A>C | CA352144362 | SCN5A | c.4454T>G (p.Phe1485Cys) c.4457T>G (p.Phe1486Cys) c.4403T>G (p.Phe1468Cys) c.4295T>G (p.Phe1432Cys) c.4328T>G (p.Phe1443Cys) c.4400T>G (p.Phe1467Cys) | |
| 3 | g.38555741A>G | CA352144363 | SCN5A | c.4454T>C (p.Phe1485Ser) c.4457T>C (p.Phe1486Ser) c.4403T>C (p.Phe1468Ser) c.4295T>C (p.Phe1432Ser) c.4328T>C (p.Phe1443Ser) c.4400T>C (p.Phe1467Ser) | |
| 3 | g.38555741A>T | CA352144364 | SCN5A | c.4454T>A (p.Phe1485Tyr) c.4457T>A (p.Phe1486Tyr) c.4403T>A (p.Phe1468Tyr) c.4295T>A (p.Phe1432Tyr) c.4328T>A (p.Phe1443Tyr) c.4400T>A (p.Phe1467Tyr) | |
| 3 | g.38555742A= | CA1358563014 | SCN5A | c.4453T= (p.Phe1485=) c.4456T= (p.Phe1486=) c.4402T= (p.Phe1468=) c.4294T= (p.Phe1432=) c.4327T= (p.Phe1443=) c.4399T= (p.Phe1467=) | |
| 3 | g.38555742A>C | CA352144366 | SCN5A | c.4453T>G (p.Phe1485Val) c.4456T>G (p.Phe1486Val) c.4402T>G (p.Phe1468Val) c.4294T>G (p.Phe1432Val) c.4327T>G (p.Phe1443Val) c.4399T>G (p.Phe1467Val) | |
| 3 | g.38555742A>G | CA018277 | SCN5A | c.4453T>C (p.Phe1485Leu) c.4456T>C (p.Phe1486Leu) c.4402T>C (p.Phe1468Leu) c.4294T>C (p.Phe1432Leu) c.4327T>C (p.Phe1443Leu) c.4399T>C (p.Phe1467Leu) | ClinVar dbSNP |
| 3 | g.38555742A>T | CA352144365 | SCN5A | c.4453T>A (p.Phe1485Ile) c.4456T>A (p.Phe1486Ile) c.4402T>A (p.Phe1468Ile) c.4294T>A (p.Phe1432Ile) c.4327T>A (p.Phe1443Ile) c.4399T>A (p.Phe1467Ile) | |
| 3 | g.38555743G>A | CA433135839 | SCN5A | c.4452C>T (p.Ile1484=) c.4455C>T (p.Ile1485=) c.4401C>T (p.Ile1467=) c.4293C>T (p.Ile1431=) c.4326C>T (p.Ile1442=) c.4398C>T (p.Ile1466=) | |
| 3 | g.38555743G>C | CA352144367 | SCN5A | c.4452C>G (p.Ile1484Met) c.4455C>G (p.Ile1485Met) c.4401C>G (p.Ile1467Met) c.4293C>G (p.Ile1431Met) c.4326C>G (p.Ile1442Met) c.4398C>G (p.Ile1466Met) | |
| 3 | g.38555743G>T | CA433135842 | SCN5A | c.4452C>A (p.Ile1484=) c.4455C>A (p.Ile1485=) c.4401C>A (p.Ile1467=) c.4293C>A (p.Ile1431=) c.4326C>A (p.Ile1442=) c.4398C>A (p.Ile1466=) | |
| 3 | g.38555744A>C | CA352144368 | SCN5A | c.4451T>G (p.Ile1484Ser) c.4454T>G (p.Ile1485Ser) c.4400T>G (p.Ile1467Ser) c.4292T>G (p.Ile1431Ser) c.4325T>G (p.Ile1442Ser) c.4397T>G (p.Ile1466Ser) | |
| 3 | g.38555744A>G | CA352144369 | SCN5A | c.4451T>C (p.Ile1484Thr) c.4454T>C (p.Ile1485Thr) c.4400T>C (p.Ile1467Thr) c.4292T>C (p.Ile1431Thr) c.4325T>C (p.Ile1442Thr) c.4397T>C (p.Ile1466Thr) | |
| 3 | g.38555744A>T | CA352144370 | SCN5A | c.4451T>A (p.Ile1484Asn) c.4454T>A (p.Ile1485Asn) c.4400T>A (p.Ile1467Asn) c.4292T>A (p.Ile1431Asn) c.4325T>A (p.Ile1442Asn) c.4397T>A (p.Ile1466Asn) | |
| 3 | g.38555745T>A | CA352144372 | SCN5A | c.4450A>T (p.Ile1484Phe) c.4453A>T (p.Ile1485Phe) c.4399A>T (p.Ile1467Phe) c.4291A>T (p.Ile1431Phe) c.4324A>T (p.Ile1442Phe) c.4396A>T (p.Ile1466Phe) | |
| 3 | g.38555745T>C | CA018271 | SCN5A | c.4450A>G (p.Ile1484Val) c.4453A>G (p.Ile1485Val) c.4399A>G (p.Ile1467Val) c.4291A>G (p.Ile1431Val) c.4324A>G (p.Ile1442Val) c.4396A>G (p.Ile1466Val) | ClinVar dbSNP |
| 3 | g.38555745T>G | CA352144371 | SCN5A | c.4450A>C (p.Ile1484Leu) c.4453A>C (p.Ile1485Leu) c.4399A>C (p.Ile1467Leu) c.4291A>C (p.Ile1431Leu) c.4324A>C (p.Ile1442Leu) c.4396A>C (p.Ile1466Leu) | |
| 3 | g.38555745T= | CA1358563018 | SCN5A | c.4450A= (p.Ile1484=) c.4453A= (p.Ile1485=) c.4399A= (p.Ile1467=) c.4291A= (p.Ile1431=) c.4324A= (p.Ile1442=) c.4396A= (p.Ile1466=) | |
| 3 | g.38555746G>A | CA063238 | SCN5A | c.4449C>T (p.Asp1483=) c.4452C>T (p.Asp1484=) c.4398C>T (p.Asp1466=) c.4290C>T (p.Asp1430=) c.4323C>T (p.Asp1441=) c.4395C>T (p.Asp1465=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555746G>C | CA352144373 | SCN5A | c.4449C>G (p.Asp1483Glu) c.4452C>G (p.Asp1484Glu) c.4398C>G (p.Asp1466Glu) c.4290C>G (p.Asp1430Glu) c.4323C>G (p.Asp1441Glu) c.4395C>G (p.Asp1465Glu) | |
| 3 | g.38555746G= | CA1358563020 | SCN5A | c.4449C= (p.Asp1483=) c.4452C= (p.Asp1484=) c.4398C= (p.Asp1466=) c.4290C= (p.Asp1430=) c.4323C= (p.Asp1441=) c.4395C= (p.Asp1465=) | |
| 3 | g.38555746G>T | CA352144374 | SCN5A | c.4449C>A (p.Asp1483Glu) c.4452C>A (p.Asp1484Glu) c.4398C>A (p.Asp1466Glu) c.4290C>A (p.Asp1430Glu) c.4323C>A (p.Asp1441Glu) c.4395C>A (p.Asp1465Glu) | ClinVar dbSNP |
| 3 | g.38555747T>A | CA352144375 | SCN5A | c.4448A>T (p.Asp1483Val) c.4451A>T (p.Asp1484Val) c.4397A>T (p.Asp1466Val) c.4289A>T (p.Asp1430Val) c.4322A>T (p.Asp1441Val) c.4394A>T (p.Asp1465Val) | |
| 3 | g.38555747T>C | CA352144376 | SCN5A | c.4448A>G (p.Asp1483Gly) c.4451A>G (p.Asp1484Gly) c.4397A>G (p.Asp1466Gly) c.4289A>G (p.Asp1430Gly) c.4322A>G (p.Asp1441Gly) c.4394A>G (p.Asp1465Gly) | |
| 3 | g.38555747T>G | CA352144377 | SCN5A | c.4448A>C (p.Asp1483Ala) c.4451A>C (p.Asp1484Ala) c.4397A>C (p.Asp1466Ala) c.4289A>C (p.Asp1430Ala) c.4322A>C (p.Asp1441Ala) c.4394A>C (p.Asp1465Ala) | |
| 3 | g.38555748C>A | CA352144378 | SCN5A | c.4447G>T (p.Asp1483Tyr) c.4450G>T (p.Asp1484Tyr) c.4396G>T (p.Asp1466Tyr) c.4288G>T (p.Asp1430Tyr) c.4321G>T (p.Asp1441Tyr) c.4393G>T (p.Asp1465Tyr) | |
| 3 | g.38555748C>G | CA352144380 | SCN5A | c.4447G>C (p.Asp1483His) c.4450G>C (p.Asp1484His) c.4396G>C (p.Asp1466His) c.4288G>C (p.Asp1430His) c.4321G>C (p.Asp1441His) c.4393G>C (p.Asp1465His) | |
| 3 | g.38555748C>T | CA352144379 | SCN5A | c.4447G>A (p.Asp1483Asn) c.4450G>A (p.Asp1484Asn) c.4396G>A (p.Asp1466Asn) c.4288G>A (p.Asp1430Asn) c.4321G>A (p.Asp1441Asn) c.4393G>A (p.Asp1465Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38555749C>A | CA352144381 | SCN5A | c.4446G>T (p.Gln1482His) c.4449G>T (p.Gln1483His) c.4395G>T (p.Gln1465His) c.4287G>T (p.Gln1429His) c.4320G>T (p.Gln1440His) c.4392G>T (p.Gln1464His) | |
| 3 | g.38555749C= | CA1358563022 | SCN5A | c.4446G= (p.Gln1482=) c.4449G= (p.Gln1483=) c.4395G= (p.Gln1465=) c.4287G= (p.Gln1429=) c.4320G= (p.Gln1440=) c.4392G= (p.Gln1464=) | |
| 3 | g.38555749C>G | CA063232 | SCN5A | c.4446G>C (p.Gln1482His) c.4449G>C (p.Gln1483His) c.4395G>C (p.Gln1465His) c.4287G>C (p.Gln1429His) c.4320G>C (p.Gln1440His) c.4392G>C (p.Gln1464His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38555749C>T | CA433135852 | SCN5A | c.4446G>A (p.Gln1482=) c.4449G>A (p.Gln1483=) c.4395G>A (p.Gln1465=) c.4287G>A (p.Gln1429=) c.4320G>A (p.Gln1440=) c.4392G>A (p.Gln1464=) | |
| 3 | g.38555750T>A | CA352144382 | SCN5A | c.4445A>T (p.Gln1482Leu) c.4448A>T (p.Gln1483Leu) c.4394A>T (p.Gln1465Leu) c.4286A>T (p.Gln1429Leu) c.4319A>T (p.Gln1440Leu) c.4391A>T (p.Gln1464Leu) | |
| 3 | g.38555750T>C | CA352144383 | SCN5A | c.4445A>G (p.Gln1482Arg) c.4448A>G (p.Gln1483Arg) c.4394A>G (p.Gln1465Arg) c.4286A>G (p.Gln1429Arg) c.4319A>G (p.Gln1440Arg) c.4391A>G (p.Gln1464Arg) | |
| 3 | g.38555750T>G | CA352144384 | SCN5A | c.4445A>C (p.Gln1482Pro) c.4448A>C (p.Gln1483Pro) c.4394A>C (p.Gln1465Pro) c.4286A>C (p.Gln1429Pro) c.4319A>C (p.Gln1440Pro) c.4391A>C (p.Gln1464Pro) | |
| 3 | g.38555751G>A | CA352144385 | SCN5A | c.4444C>T (p.Gln1482Ter) c.4447C>T (p.Gln1483Ter) c.4393C>T (p.Gln1465Ter) c.4285C>T (p.Gln1429Ter) c.4318C>T (p.Gln1440Ter) c.4390C>T (p.Gln1464Ter) | |
| 3 | g.38555751G>C | CA352144386 | SCN5A | c.4444C>G (p.Gln1482Glu) c.4447C>G (p.Gln1483Glu) c.4393C>G (p.Gln1465Glu) c.4285C>G (p.Gln1429Glu) c.4318C>G (p.Gln1440Glu) c.4390C>G (p.Gln1464Glu) | |
| 3 | g.38555751G>T | CA352144387 | SCN5A | c.4444C>A (p.Gln1482Lys) c.4447C>A (p.Gln1483Lys) c.4393C>A (p.Gln1465Lys) c.4285C>A (p.Gln1429Lys) c.4318C>A (p.Gln1440Lys) c.4390C>A (p.Gln1464Lys) | |
| 3 | g.38555752G>A | CA063224 | SCN5A | c.4443C>T (p.Gly1481=) c.4446C>T (p.Gly1482=) c.4392C>T (p.Gly1464=) c.4284C>T (p.Gly1428=) c.4317C>T (p.Gly1439=) c.4389C>T (p.Gly1463=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38555752G>C | CA433135861 | SCN5A | c.4443C>G (p.Gly1481=) c.4446C>G (p.Gly1482=) c.4392C>G (p.Gly1464=) c.4284C>G (p.Gly1428=) c.4317C>G (p.Gly1439=) c.4389C>G (p.Gly1463=) | |
| 3 | g.38555752G= | CA1358563024 | SCN5A | c.4443C= (p.Gly1481=) c.4446C= (p.Gly1482=) c.4392C= (p.Gly1464=) c.4284C= (p.Gly1428=) c.4317C= (p.Gly1439=) c.4389C= (p.Gly1463=) | |
| 3 | g.38555752G>T | CA433135863 | SCN5A | c.4443C>A (p.Gly1481=) c.4446C>A (p.Gly1482=) c.4392C>A (p.Gly1464=) c.4284C>A (p.Gly1428=) c.4317C>A (p.Gly1439=) c.4389C>A (p.Gly1463=) | |
| 3 | g.38555753C>A | CA352144388 | SCN5A | c.4442G>T (p.Gly1481Val) c.4445G>T (p.Gly1482Val) c.4391G>T (p.Gly1464Val) c.4283G>T (p.Gly1428Val) c.4316G>T (p.Gly1439Val) c.4388G>T (p.Gly1463Val) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38555753C>G | CA352144389 | SCN5A | c.4442G>C (p.Gly1481Ala) c.4445G>C (p.Gly1482Ala) c.4391G>C (p.Gly1464Ala) c.4283G>C (p.Gly1428Ala) c.4316G>C (p.Gly1439Ala) c.4388G>C (p.Gly1463Ala) | |
| 3 | g.38555753C>T | CA352144390 | SCN5A | c.4442G>A (p.Gly1481Asp) c.4445G>A (p.Gly1482Asp) c.4391G>A (p.Gly1464Asp) c.4283G>A (p.Gly1428Asp) c.4316G>A (p.Gly1439Asp) c.4388G>A (p.Gly1463Asp) | ClinVar gnomAD v4 |
| 3 | g.38555757dup | CA2755901347 | SCN5A | c.4442dup (p.Gln1482ProfsTer?) c.4445dup (p.Gln1483ProfsTer?) c.4391dup (p.Gln1465ProfsTer?) c.4283dup (p.Gln1429ProfsTer?) c.4316dup (p.Gln1440ProfsTer?) c.4388dup (p.Gln1464ProfsTer?) | |
| 3 | g.38555754C>A | CA352144392 | SCN5A | c.4441G>T (p.Gly1481Cys) c.4444G>T (p.Gly1482Cys) c.4390G>T (p.Gly1464Cys) c.4282G>T (p.Gly1428Cys) c.4315G>T (p.Gly1439Cys) c.4387G>T (p.Gly1463Cys) | |
| 3 | g.38555754C>G | CA352144393 | SCN5A | c.4441G>C (p.Gly1481Arg) c.4444G>C (p.Gly1482Arg) c.4390G>C (p.Gly1464Arg) c.4282G>C (p.Gly1428Arg) c.4315G>C (p.Gly1439Arg) c.4387G>C (p.Gly1463Arg) | |
| 3 | g.38555754C>T | CA352144391 | SCN5A | c.4441G>A (p.Gly1481Ser) c.4444G>A (p.Gly1482Ser) c.4390G>A (p.Gly1464Ser) c.4282G>A (p.Gly1428Ser) c.4315G>A (p.Gly1439Ser) c.4387G>A (p.Gly1463Ser) | |
| 3 | g.38555755C>A | CA433135866 | SCN5A | c.4440G>T (p.Gly1480=) c.4443G>T (p.Gly1481=) c.4389G>T (p.Gly1463=) c.4281G>T (p.Gly1427=) c.4314G>T (p.Gly1438=) c.4386G>T (p.Gly1462=) | |
| 3 | g.38555755C>G | CA433135868 | SCN5A | c.4440G>C (p.Gly1480=) c.4443G>C (p.Gly1481=) c.4389G>C (p.Gly1463=) c.4281G>C (p.Gly1427=) c.4314G>C (p.Gly1438=) c.4386G>C (p.Gly1462=) | |
| 3 | g.38555755C>T | CA433135870 | SCN5A | c.4440G>A (p.Gly1480=) c.4443G>A (p.Gly1481=) c.4389G>A (p.Gly1463=) c.4281G>A (p.Gly1427=) c.4314G>A (p.Gly1438=) c.4386G>A (p.Gly1462=) | |
| 3 | g.38555756C>A | CA352144395 | SCN5A | c.4439G>T (p.Gly1480Val) c.4442G>T (p.Gly1481Val) c.4388G>T (p.Gly1463Val) c.4280G>T (p.Gly1427Val) c.4313G>T (p.Gly1438Val) c.4385G>T (p.Gly1462Val) | |
| 3 | g.38555756C= | CA1358563026 | SCN5A | c.4439G= (p.Gly1480=) c.4442G= (p.Gly1481=) c.4388G= (p.Gly1463=) c.4280G= (p.Gly1427=) c.4313G= (p.Gly1438=) c.4385G= (p.Gly1462=) | |
| 3 | g.38555756C>G | CA352144394 | SCN5A | c.4439G>C (p.Gly1480Ala) c.4442G>C (p.Gly1481Ala) c.4388G>C (p.Gly1463Ala) c.4280G>C (p.Gly1427Ala) c.4313G>C (p.Gly1438Ala) c.4385G>C (p.Gly1462Ala) | |
| 3 | g.38555756C>T | CA018265 | SCN5A | c.4439G>A (p.Gly1480Glu) c.4442G>A (p.Gly1481Glu) c.4388G>A (p.Gly1463Glu) c.4280G>A (p.Gly1427Glu) c.4313G>A (p.Gly1438Glu) c.4385G>A (p.Gly1462Glu) | ClinVar dbSNP |
| 3 | g.38555757C>A | CA352144396 | SCN5A | c.4438G>T (p.Gly1480Trp) c.4441G>T (p.Gly1481Trp) c.4387G>T (p.Gly1463Trp) c.4279G>T (p.Gly1427Trp) c.4312G>T (p.Gly1438Trp) c.4384G>T (p.Gly1462Trp) | |
| 3 | g.38555757C>G | CA352144397 | SCN5A | c.4438G>C (p.Gly1480Arg) c.4441G>C (p.Gly1481Arg) c.4387G>C (p.Gly1463Arg) c.4279G>C (p.Gly1427Arg) c.4312G>C (p.Gly1438Arg) c.4384G>C (p.Gly1462Arg) | |
| 3 | g.38555757C>T | CA352144398 | SCN5A | c.4438G>A (p.Gly1480Arg) c.4441G>A (p.Gly1481Arg) c.4387G>A (p.Gly1463Arg) c.4279G>A (p.Gly1427Arg) c.4312G>A (p.Gly1438Arg) c.4384G>A (p.Gly1462Arg) | |
| 3 | g.38555758T>A | CA352144399 | SCN5A | c.4437A>T (p.Leu1479Phe) c.4440A>T (p.Leu1480Phe) c.4386A>T (p.Leu1462Phe) c.4278A>T (p.Leu1426Phe) c.4311A>T (p.Leu1437Phe) c.4383A>T (p.Leu1461Phe) | |
| 3 | g.38555758T>C | CA433135875 | SCN5A | c.4437A>G (p.Leu1479=) c.4440A>G (p.Leu1480=) c.4386A>G (p.Leu1462=) c.4278A>G (p.Leu1426=) c.4311A>G (p.Leu1437=) c.4383A>G (p.Leu1461=) | gnomAD v4 |
| 3 | g.38555758T>G | CA352144400 | SCN5A | c.4437A>C (p.Leu1479Phe) c.4440A>C (p.Leu1480Phe) c.4386A>C (p.Leu1462Phe) c.4278A>C (p.Leu1426Phe) c.4311A>C (p.Leu1437Phe) c.4383A>C (p.Leu1461Phe) | |
| 3 | g.38555759A>C | CA352144401 | SCN5A | c.4436T>G (p.Leu1479Ter) c.4439T>G (p.Leu1480Ter) c.4385T>G (p.Leu1462Ter) c.4277T>G (p.Leu1426Ter) c.4310T>G (p.Leu1437Ter) c.4382T>G (p.Leu1461Ter) | |
| 3 | g.38555759A>G | CA352144402 | SCN5A | c.4436T>C (p.Leu1479Ser) c.4439T>C (p.Leu1480Ser) c.4385T>C (p.Leu1462Ser) c.4277T>C (p.Leu1426Ser) c.4310T>C (p.Leu1437Ser) c.4382T>C (p.Leu1461Ser) | |
| 3 | g.38555759A>T | CA352144403 | SCN5A | c.4436T>A (p.Leu1479Ter) c.4439T>A (p.Leu1480Ter) c.4385T>A (p.Leu1462Ter) c.4277T>A (p.Leu1426Ter) c.4310T>A (p.Leu1437Ter) c.4382T>A (p.Leu1461Ter) | |
| 3 | g.38555760A= | CA1358563028 | SCN5A | c.4435T= (p.Leu1479=) c.4438T= (p.Leu1480=) c.4384T= (p.Leu1462=) c.4276T= (p.Leu1426=) c.4309T= (p.Leu1437=) c.4381T= (p.Leu1461=) | |
| 3 | g.38555760A>C | CA352144404 | SCN5A | c.4435T>G (p.Leu1479Val) c.4438T>G (p.Leu1480Val) c.4384T>G (p.Leu1462Val) c.4276T>G (p.Leu1426Val) c.4309T>G (p.Leu1437Val) c.4381T>G (p.Leu1461Val) | ClinVar dbSNP |
| 3 | g.38555760A>G | CA433135881 | SCN5A | c.4435T>C (p.Leu1479=) c.4438T>C (p.Leu1480=) c.4384T>C (p.Leu1462=) c.4276T>C (p.Leu1426=) c.4309T>C (p.Leu1437=) c.4381T>C (p.Leu1461=) | |
| 3 | g.38555760A>T | CA352144405 | SCN5A | c.4435T>A (p.Leu1479Ile) c.4438T>A (p.Leu1480Ile) c.4384T>A (p.Leu1462Ile) c.4276T>A (p.Leu1426Ile) c.4309T>A (p.Leu1437Ile) c.4381T>A (p.Leu1461Ile) | |
| 3 | g.38555760_38555761insCTTTTTCTTCTGTTGGTTGAAGTTGTCAATGATGACACCAATAAAGAG | CA542269999 | SCN5A | c.4435-1_4435insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4435-1_4435insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4438-1_4438insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4438-1_4438insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4384-1_4384insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4384-1_4384insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4276-1_4276insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4276-1_4276insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4309-1_4309insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4309-1_4309insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4381-1_4381insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4381-1_4381insCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) | dbSNP gnomAD v2 |
| 3 | g.38555760_38555761insCTTTTTCTTCTGTTGGTTGAAGTTGTCAATGATGACACCAATAAAGAGGTTCAGG | CA2665110719 | SCN5A | c.4435-1_4435insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4435-1_4435insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4438-1_4438insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4438-1_4438insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4384-1_4384insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4384-1_4384insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4276-1_4276insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4276-1_4276insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4309-1_4309insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4309-1_4309insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) c.4381-1_4381insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG (n.4381-1_4381insCCTGAACCTCTTTATTGGTGTCATCATTGACAACTTCAACCAACAGAAGAAAAAG) | gnomAD v4 |
| 3 | g.38555761G>A | CA352144407 | SCN5A | c.4435-1C>T (n.4435-1C>T) c.4438-1C>T (n.4438-1C>T) c.4384-1C>T (n.4384-1C>T) c.4276-1C>T (n.4276-1C>T) c.4309-1C>T (n.4309-1C>T) c.4381-1C>T (n.4381-1C>T) | |
| 3 | g.38555761G>C | CA352144408 | SCN5A | c.4435-1C>G (n.4435-1C>G) c.4438-1C>G (n.4438-1C>G) c.4384-1C>G (n.4384-1C>G) c.4276-1C>G (n.4276-1C>G) c.4309-1C>G (n.4309-1C>G) c.4381-1C>G (n.4381-1C>G) | dbSNP |
| 3 | g.38555761G= | CA1358563030 | SCN5A | c.4435-1C= (n.4435-1C=) c.4438-1C= (n.4438-1C=) c.4384-1C= (n.4384-1C=) c.4276-1C= (n.4276-1C=) c.4309-1C= (n.4309-1C=) c.4381-1C= (n.4381-1C=) | |
| 3 | g.38555761G>T | CA352144406 | SCN5A | c.4435-1C>A (n.4435-1C>A) c.4438-1C>A (n.4438-1C>A) c.4384-1C>A (n.4384-1C>A) c.4276-1C>A (n.4276-1C>A) c.4309-1C>A (n.4309-1C>A) c.4381-1C>A (n.4381-1C>A) | |
| 3 | g.38555762T>A | CA352144409 | SCN5A | c.4435-2A>T (n.4435-2A>T) c.4438-2A>T (n.4438-2A>T) c.4384-2A>T (n.4384-2A>T) c.4276-2A>T (n.4276-2A>T) c.4309-2A>T (n.4309-2A>T) c.4381-2A>T (n.4381-2A>T) | |
| 3 | g.38555762T>C | CA352144410 | SCN5A | c.4435-2A>G (n.4435-2A>G) c.4438-2A>G (n.4438-2A>G) c.4384-2A>G (n.4384-2A>G) c.4276-2A>G (n.4276-2A>G) c.4309-2A>G (n.4309-2A>G) c.4381-2A>G (n.4381-2A>G) | |
| 3 | g.38555762T>G | CA352144411 | SCN5A | c.4435-2A>C (n.4435-2A>C) c.4438-2A>C (n.4438-2A>C) c.4384-2A>C (n.4384-2A>C) c.4276-2A>C (n.4276-2A>C) c.4309-2A>C (n.4309-2A>C) c.4381-2A>C (n.4381-2A>C) | |
| 3 | g.38555763G>A | CA658796276 | SCN5A | c.4435-3C>T (n.4435-3C>T) c.4438-3C>T (n.4438-3C>T) c.4384-3C>T (n.4384-3C>T) c.4276-3C>T (n.4276-3C>T) c.4309-3C>T (n.4309-3C>T) c.4381-3C>T (n.4381-3C>T) | ClinVar dbSNP |
| 3 | g.38555763G= | CA1358563031 | SCN5A | c.4435-3C= (n.4435-3C=) c.4438-3C= (n.4438-3C=) c.4384-3C= (n.4384-3C=) c.4276-3C= (n.4276-3C=) c.4309-3C= (n.4309-3C=) c.4381-3C= (n.4381-3C=) | |
| 3 | g.38555764C>A | CA2577553308 | SCN5A | c.4435-4G>T (n.4435-4G>T) c.4438-4G>T (n.4438-4G>T) c.4384-4G>T (n.4384-4G>T) c.4276-4G>T (n.4276-4G>T) c.4309-4G>T (n.4309-4G>T) c.4381-4G>T (n.4381-4G>T) | |
| 3 | g.38555764C= | CA1358563032 | SCN5A | c.4435-4G= (n.4435-4G=) c.4438-4G= (n.4438-4G=) c.4384-4G= (n.4384-4G=) c.4276-4G= (n.4276-4G=) c.4309-4G= (n.4309-4G=) c.4381-4G= (n.4381-4G=) | |
| 3 | g.38555764C>G | CA1358563033 | SCN5A | c.4435-4G>C (n.4435-4G>C) c.4438-4G>C (n.4438-4G>C) c.4384-4G>C (n.4384-4G>C) c.4276-4G>C (n.4276-4G>C) c.4309-4G>C (n.4309-4G>C) c.4381-4G>C (n.4381-4G>C) | ClinVar dbSNP |
| 3 | g.38555766A>G | CA2577553309 | SCN5A | c.4435-6T>C (n.4435-6T>C) c.4438-6T>C (n.4438-6T>C) c.4384-6T>C (n.4384-6T>C) c.4276-6T>C (n.4276-6T>C) c.4309-6T>C (n.4309-6T>C) c.4381-6T>C (n.4381-6T>C) | |
| 3 | g.38555769del | CA2697550801 | SCN5A | c.4435-9del (n.4435-9del) c.4438-9del (n.4438-9del) c.4384-9del (n.4384-9del) c.4276-9del (n.4276-9del) c.4309-9del (n.4309-9del) c.4381-9del (n.4381-9del) | ClinVar |
| 3 | g.38555770G>A | CA063201 | SCN5A | c.4435-10C>T (n.4435-10C>T) c.4438-10C>T (n.4438-10C>T) c.4384-10C>T (n.4384-10C>T) c.4276-10C>T (n.4276-10C>T) c.4309-10C>T (n.4309-10C>T) c.4381-10C>T (n.4381-10C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555770G>C | CA2577553310 | SCN5A | c.4435-10C>G (n.4435-10C>G) c.4438-10C>G (n.4438-10C>G) c.4384-10C>G (n.4384-10C>G) c.4276-10C>G (n.4276-10C>G) c.4309-10C>G (n.4309-10C>G) c.4381-10C>G (n.4381-10C>G) | |
| 3 | g.38555770G= | CA1358563035 | SCN5A | c.4435-10C= (n.4435-10C=) c.4438-10C= (n.4438-10C=) c.4384-10C= (n.4384-10C=) c.4276-10C= (n.4276-10C=) c.4309-10C= (n.4309-10C=) c.4381-10C= (n.4381-10C=) | |
| 3 | g.38555771A= | CA1358563036 | SCN5A | c.4435-11T= (n.4435-11T=) c.4438-11T= (n.4438-11T=) c.4384-11T= (n.4384-11T=) c.4276-11T= (n.4276-11T=) c.4309-11T= (n.4309-11T=) c.4381-11T= (n.4381-11T=) | |
| 3 | g.38555771_38555772insC | CA1358563037 | SCN5A | c.4435-12_4435-11insG (n.4435-12_4435-11insG) c.4438-12_4438-11insG (n.4438-12_4438-11insG) c.4384-12_4384-11insG (n.4384-12_4384-11insG) c.4276-12_4276-11insG (n.4276-12_4276-11insG) c.4309-12_4309-11insG (n.4309-12_4309-11insG) c.4381-12_4381-11insG (n.4381-12_4381-11insG) | dbSNP |
| 3 | g.38555772A>C | CA2665110720 | SCN5A | c.4435-12T>G (n.4435-12T>G) c.4438-12T>G (n.4438-12T>G) c.4384-12T>G (n.4384-12T>G) c.4276-12T>G (n.4276-12T>G) c.4309-12T>G (n.4309-12T>G) c.4381-12T>G (n.4381-12T>G) | gnomAD v4 |
| 3 | g.38555773G>A | CA063205 | SCN5A | c.4435-13C>T (n.4435-13C>T) c.4438-13C>T (n.4438-13C>T) c.4384-13C>T (n.4384-13C>T) c.4276-13C>T (n.4276-13C>T) c.4309-13C>T (n.4309-13C>T) c.4381-13C>T (n.4381-13C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555773G= | CA1358563038 | SCN5A | c.4435-13C= (n.4435-13C=) c.4438-13C= (n.4438-13C=) c.4384-13C= (n.4384-13C=) c.4276-13C= (n.4276-13C=) c.4309-13C= (n.4309-13C=) c.4381-13C= (n.4381-13C=) | |
| 3 | g.38555774G>A | CA2577553311 | SCN5A | c.4435-14C>T (n.4435-14C>T) c.4438-14C>T (n.4438-14C>T) c.4384-14C>T (n.4384-14C>T) c.4276-14C>T (n.4276-14C>T) c.4309-14C>T (n.4309-14C>T) c.4381-14C>T (n.4381-14C>T) | |
| 3 | g.38555774G>C | CA1358563041 | SCN5A | c.4435-14C>G (n.4435-14C>G) c.4438-14C>G (n.4438-14C>G) c.4384-14C>G (n.4384-14C>G) c.4276-14C>G (n.4276-14C>G) c.4309-14C>G (n.4309-14C>G) c.4381-14C>G (n.4381-14C>G) | dbSNP gnomAD v4 |
| 3 | g.38555774G= | CA1358563040 | SCN5A | c.4435-14C= (n.4435-14C=) c.4438-14C= (n.4438-14C=) c.4384-14C= (n.4384-14C=) c.4276-14C= (n.4276-14C=) c.4309-14C= (n.4309-14C=) c.4381-14C= (n.4381-14C=) | |
| 3 | g.38555775C= | CA1358563042 | SCN5A | c.4435-15G= (n.4435-15G=) c.4438-15G= (n.4438-15G=) c.4384-15G= (n.4384-15G=) c.4276-15G= (n.4276-15G=) c.4309-15G= (n.4309-15G=) c.4381-15G= (n.4381-15G=) | |
| 3 | g.38555775C>T | CA647831728 | SCN5A | c.4435-15G>A (n.4435-15G>A) c.4438-15G>A (n.4438-15G>A) c.4384-15G>A (n.4384-15G>A) c.4276-15G>A (n.4276-15G>A) c.4309-15G>A (n.4309-15G>A) c.4381-15G>A (n.4381-15G>A) | dbSNP COSMIC |
| 3 | g.38555777_38555778insTTAGAAC | CA2665110721 | SCN5A | c.4435-16_4435-15insTCTAAGT (n.4435-16_4435-15insTCTAAGT) c.4438-16_4438-15insTCTAAGT (n.4438-16_4438-15insTCTAAGT) c.4384-16_4384-15insTCTAAGT (n.4384-16_4384-15insTCTAAGT) c.4276-16_4276-15insTCTAAGT (n.4276-16_4276-15insTCTAAGT) c.4309-16_4309-15insTCTAAGT (n.4309-16_4309-15insTCTAAGT) c.4381-16_4381-15insTCTAAGT (n.4381-16_4381-15insTCTAAGT) | gnomAD v4 |
| 3 | g.38555777C>A | CA2552784830 | SCN5A | c.4435-17G>T (n.4435-17G>T) c.4438-17G>T (n.4438-17G>T) c.4384-17G>T (n.4384-17G>T) c.4276-17G>T (n.4276-17G>T) c.4309-17G>T (n.4309-17G>T) c.4381-17G>T (n.4381-17G>T) | ClinVar gnomAD v4 |
| 3 | g.38555777C= | CA1358563044 | SCN5A | c.4435-17G= (n.4435-17G=) c.4438-17G= (n.4438-17G=) c.4384-17G= (n.4384-17G=) c.4276-17G= (n.4276-17G=) c.4309-17G= (n.4309-17G=) c.4381-17G= (n.4381-17G=) | |
| 3 | g.38555777C>G | CA063211 | SCN5A | c.4435-17G>C (n.4435-17G>C) c.4438-17G>C (n.4438-17G>C) c.4384-17G>C (n.4384-17G>C) c.4276-17G>C (n.4276-17G>C) c.4309-17G>C (n.4309-17G>C) c.4381-17G>C (n.4381-17G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38555777C>T | CA063208 | SCN5A | c.4435-17G>A (n.4435-17G>A) c.4438-17G>A (n.4438-17G>A) c.4384-17G>A (n.4384-17G>A) c.4276-17G>A (n.4276-17G>A) c.4309-17G>A (n.4309-17G>A) c.4381-17G>A (n.4381-17G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555779A= | CA1358563046 | SCN5A | c.4435-19T= (n.4435-19T=) c.4438-19T= (n.4438-19T=) c.4384-19T= (n.4384-19T=) c.4276-19T= (n.4276-19T=) c.4309-19T= (n.4309-19T=) c.4381-19T= (n.4381-19T=) | |
| 3 | g.38555779A>G | CA16604560 | SCN5A | c.4435-19T>C (n.4435-19T>C) c.4438-19T>C (n.4438-19T>C) c.4384-19T>C (n.4384-19T>C) c.4276-19T>C (n.4276-19T>C) c.4309-19T>C (n.4309-19T>C) c.4381-19T>C (n.4381-19T>C) | ClinVar dbSNP |
| 3 | g.38555780A= | CA1358563048 | SCN5A | c.4435-20T= (n.4435-20T=) c.4438-20T= (n.4438-20T=) c.4384-20T= (n.4384-20T=) c.4276-20T= (n.4276-20T=) c.4309-20T= (n.4309-20T=) c.4381-20T= (n.4381-20T=) | |
| 3 | g.38555780A>G | CA542270000 | SCN5A | c.4435-20T>C (n.4435-20T>C) c.4438-20T>C (n.4438-20T>C) c.4384-20T>C (n.4384-20T>C) c.4276-20T>C (n.4276-20T>C) c.4309-20T>C (n.4309-20T>C) c.4381-20T>C (n.4381-20T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38555781C>A | CA72943106 | SCN5A | c.4435-21G>T (n.4435-21G>T) c.4438-21G>T (n.4438-21G>T) c.4384-21G>T (n.4384-21G>T) c.4276-21G>T (n.4276-21G>T) c.4309-21G>T (n.4309-21G>T) c.4381-21G>T (n.4381-21G>T) | dbSNP gnomAD v4 |
| 3 | g.38555781C= | CA1358563049 | SCN5A | c.4435-21G= (n.4435-21G=) c.4438-21G= (n.4438-21G=) c.4384-21G= (n.4384-21G=) c.4276-21G= (n.4276-21G=) c.4309-21G= (n.4309-21G=) c.4381-21G= (n.4381-21G=) | |
| 3 | g.38555781C>T | CA2665110722 | SCN5A | c.4435-21G>A (n.4435-21G>A) c.4438-21G>A (n.4438-21G>A) c.4384-21G>A (n.4384-21G>A) c.4276-21G>A (n.4276-21G>A) c.4309-21G>A (n.4309-21G>A) c.4381-21G>A (n.4381-21G>A) | gnomAD v4 |
| 3 | g.38555782C>A | CA2665110723 | SCN5A | c.4435-22G>T (n.4435-22G>T) c.4438-22G>T (n.4438-22G>T) c.4384-22G>T (n.4384-22G>T) c.4276-22G>T (n.4276-22G>T) c.4309-22G>T (n.4309-22G>T) c.4381-22G>T (n.4381-22G>T) | gnomAD v4 |
| 3 | g.38555782C= | CA1358563051 | SCN5A | c.4435-22G= (n.4435-22G=) c.4438-22G= (n.4438-22G=) c.4384-22G= (n.4384-22G=) c.4276-22G= (n.4276-22G=) c.4309-22G= (n.4309-22G=) c.4381-22G= (n.4381-22G=) | |
| 3 | g.38555782C>G | CA542270001 | SCN5A | c.4435-22G>C (n.4435-22G>C) c.4438-22G>C (n.4438-22G>C) c.4384-22G>C (n.4384-22G>C) c.4276-22G>C (n.4276-22G>C) c.4309-22G>C (n.4309-22G>C) c.4381-22G>C (n.4381-22G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38555783T>C | CA2665110724 | SCN5A | c.4435-23A>G (n.4435-23A>G) c.4438-23A>G (n.4438-23A>G) c.4384-23A>G (n.4384-23A>G) c.4276-23A>G (n.4276-23A>G) c.4309-23A>G (n.4309-23A>G) c.4381-23A>G (n.4381-23A>G) | gnomAD v4 |
| 3 | g.38555784C>A | CA2665110725 | SCN5A | c.4435-24G>T (n.4435-24G>T) c.4438-24G>T (n.4438-24G>T) c.4384-24G>T (n.4384-24G>T) c.4276-24G>T (n.4276-24G>T) c.4309-24G>T (n.4309-24G>T) c.4381-24G>T (n.4381-24G>T) | gnomAD v4 |
| 3 | g.38555785A>C | CA2577553312 | SCN5A | c.4435-25T>G (n.4435-25T>G) c.4438-25T>G (n.4438-25T>G) c.4384-25T>G (n.4384-25T>G) c.4276-25T>G (n.4276-25T>G) c.4309-25T>G (n.4309-25T>G) c.4381-25T>G (n.4381-25T>G) | gnomAD v4 |
| 3 | g.38555787del | CA2577553313 | SCN5A | c.4435-26del (n.4435-26del) c.4438-26del (n.4438-26del) c.4384-26del (n.4384-26del) c.4276-26del (n.4276-26del) c.4309-26del (n.4309-26del) c.4381-26del (n.4381-26del) | |
| 3 | g.38555788C= | CA1358563052 | SCN5A | c.4435-28G= (n.4435-28G=) c.4438-28G= (n.4438-28G=) c.4384-28G= (n.4384-28G=) c.4276-28G= (n.4276-28G=) c.4309-28G= (n.4309-28G=) c.4381-28G= (n.4381-28G=) | |
| 3 | g.38555788C>G | CA2665110726 | SCN5A | c.4435-28G>C (n.4435-28G>C) c.4438-28G>C (n.4438-28G>C) c.4384-28G>C (n.4384-28G>C) c.4276-28G>C (n.4276-28G>C) c.4309-28G>C (n.4309-28G>C) c.4381-28G>C (n.4381-28G>C) | gnomAD v4 |
| 3 | g.38555788C>T | CA063215 | SCN5A | c.4435-28G>A (n.4435-28G>A) c.4438-28G>A (n.4438-28G>A) c.4384-28G>A (n.4384-28G>A) c.4276-28G>A (n.4276-28G>A) c.4309-28G>A (n.4309-28G>A) c.4381-28G>A (n.4381-28G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38555790G>A | CA906897424 | SCN5A | c.4435-30C>T (n.4435-30C>T) c.4438-30C>T (n.4438-30C>T) c.4384-30C>T (n.4384-30C>T) c.4276-30C>T (n.4276-30C>T) c.4309-30C>T (n.4309-30C>T) c.4381-30C>T (n.4381-30C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38555790G= | CA1358563053 | SCN5A | c.4435-30C= (n.4435-30C=) c.4438-30C= (n.4438-30C=) c.4384-30C= (n.4384-30C=) c.4276-30C= (n.4276-30C=) c.4309-30C= (n.4309-30C=) c.4381-30C= (n.4381-30C=) | |
| 3 | g.38555792G>A | CA2665110728 | SCN5A | c.4435-32C>T (n.4435-32C>T) c.4438-32C>T (n.4438-32C>T) c.4384-32C>T (n.4384-32C>T) c.4276-32C>T (n.4276-32C>T) c.4309-32C>T (n.4309-32C>T) c.4381-32C>T (n.4381-32C>T) | gnomAD v4 |
| 3 | g.38555792G= | CA1358563054 | SCN5A | c.4435-32C= (n.4435-32C=) c.4438-32C= (n.4438-32C=) c.4384-32C= (n.4384-32C=) c.4276-32C= (n.4276-32C=) c.4309-32C= (n.4309-32C=) c.4381-32C= (n.4381-32C=) | |
| 3 | g.38555792G>T | CA063218 | SCN5A | c.4435-32C>A (n.4435-32C>A) c.4438-32C>A (n.4438-32C>A) c.4384-32C>A (n.4384-32C>A) c.4276-32C>A (n.4276-32C>A) c.4309-32C>A (n.4309-32C>A) c.4381-32C>A (n.4381-32C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38555793G>A | CA2665110729 | SCN5A | c.4435-33C>T (n.4435-33C>T) c.4438-33C>T (n.4438-33C>T) c.4384-33C>T (n.4384-33C>T) c.4276-33C>T (n.4276-33C>T) c.4309-33C>T (n.4309-33C>T) c.4381-33C>T (n.4381-33C>T) | gnomAD v4 |
| 3 | g.38555793G>C | CA1358563056 | SCN5A | c.4435-33C>G (n.4435-33C>G) c.4438-33C>G (n.4438-33C>G) c.4384-33C>G (n.4384-33C>G) c.4276-33C>G (n.4276-33C>G) c.4309-33C>G (n.4309-33C>G) c.4381-33C>G (n.4381-33C>G) | dbSNP gnomAD v4 |
| 3 | g.38555793G= | CA1358563055 | SCN5A | c.4435-33C= (n.4435-33C=) c.4438-33C= (n.4438-33C=) c.4384-33C= (n.4384-33C=) c.4276-33C= (n.4276-33C=) c.4309-33C= (n.4309-33C=) c.4381-33C= (n.4381-33C=) | |
| 3 | g.38555796C>A | CA906897430 | SCN5A | c.4435-36G>T (n.4435-36G>T) c.4438-36G>T (n.4438-36G>T) c.4384-36G>T (n.4384-36G>T) c.4276-36G>T (n.4276-36G>T) c.4309-36G>T (n.4309-36G>T) c.4381-36G>T (n.4381-36G>T) | dbSNP |
| 3 | g.38555796C= | CA1358563057 | SCN5A | c.4435-36G= (n.4435-36G=) c.4438-36G= (n.4438-36G=) c.4384-36G= (n.4384-36G=) c.4276-36G= (n.4276-36G=) c.4309-36G= (n.4309-36G=) c.4381-36G= (n.4381-36G=) | |
| 3 | g.38555798C>A | CA2509012210 | SCN5A | c.4435-38G>T (n.4435-38G>T) c.4438-38G>T (n.4438-38G>T) c.4384-38G>T (n.4384-38G>T) c.4276-38G>T (n.4276-38G>T) c.4309-38G>T (n.4309-38G>T) c.4381-38G>T (n.4381-38G>T) | |
| 3 | g.38555798C>T | CA2665110730 | SCN5A | c.4435-38G>A (n.4435-38G>A) c.4438-38G>A (n.4438-38G>A) c.4384-38G>A (n.4384-38G>A) c.4276-38G>A (n.4276-38G>A) c.4309-38G>A (n.4309-38G>A) c.4381-38G>A (n.4381-38G>A) | gnomAD v4 |
| 3 | g.38555799A>C | CA2577553314 | SCN5A | c.4435-39T>G (n.4435-39T>G) c.4438-39T>G (n.4438-39T>G) c.4384-39T>G (n.4384-39T>G) c.4276-39T>G (n.4276-39T>G) c.4309-39T>G (n.4309-39T>G) c.4381-39T>G (n.4381-39T>G) | |
| 3 | g.38555799A>G | CA2577553315 | SCN5A | c.4435-39T>C (n.4435-39T>C) c.4438-39T>C (n.4438-39T>C) c.4384-39T>C (n.4384-39T>C) c.4276-39T>C (n.4276-39T>C) c.4309-39T>C (n.4309-39T>C) c.4381-39T>C (n.4381-39T>C) | |
| 3 | g.38555803G= | CA1358563059 | SCN5A | c.4435-43C= (n.4435-43C=) c.4438-43C= (n.4438-43C=) c.4384-43C= (n.4384-43C=) c.4276-43C= (n.4276-43C=) c.4309-43C= (n.4309-43C=) c.4381-43C= (n.4381-43C=) | |
| 3 | g.38555803G>T | CA542270002 | SCN5A | c.4435-43C>A (n.4435-43C>A) c.4438-43C>A (n.4438-43C>A) c.4384-43C>A (n.4384-43C>A) c.4276-43C>A (n.4276-43C>A) c.4309-43C>A (n.4309-43C>A) c.4381-43C>A (n.4381-43C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38555805C= | CA1358563060 | SCN5A | c.4435-45G= (n.4435-45G=) c.4438-45G= (n.4438-45G=) c.4384-45G= (n.4384-45G=) c.4276-45G= (n.4276-45G=) c.4309-45G= (n.4309-45G=) c.4381-45G= (n.4381-45G=) | |
| 3 | g.38555805C>T | CA1358563061 | SCN5A | c.4435-45G>A (n.4435-45G>A) c.4438-45G>A (n.4438-45G>A) c.4384-45G>A (n.4384-45G>A) c.4276-45G>A (n.4276-45G>A) c.4309-45G>A (n.4309-45G>A) c.4381-45G>A (n.4381-45G>A) | dbSNP |
| 3 | g.38555809_38555820del | CA2665110732 | SCN5A | c.4435-58_4435-47del (n.4435-58_4435-47del) c.4438-58_4438-47del (n.4438-58_4438-47del) c.4384-58_4384-47del (n.4384-58_4384-47del) c.4276-58_4276-47del (n.4276-58_4276-47del) c.4309-58_4309-47del (n.4309-58_4309-47del) c.4381-58_4381-47del (n.4381-58_4381-47del) | gnomAD v4 |
| 3 | g.38555809G>T | CA2665110733 | SCN5A | c.4435-49C>A (n.4435-49C>A) c.4438-49C>A (n.4438-49C>A) c.4384-49C>A (n.4384-49C>A) c.4276-49C>A (n.4276-49C>A) c.4309-49C>A (n.4309-49C>A) c.4381-49C>A (n.4381-49C>A) | gnomAD v4 |
| 3 | g.38555811A>G | CA2665110735 | SCN5A | c.4435-51T>C (n.4435-51T>C) c.4438-51T>C (n.4438-51T>C) c.4384-51T>C (n.4384-51T>C) c.4276-51T>C (n.4276-51T>C) c.4309-51T>C (n.4309-51T>C) c.4381-51T>C (n.4381-51T>C) | gnomAD v4 |
| 3 | g.38555811A>T | CA2665110734 | SCN5A | c.4435-51T>A (n.4435-51T>A) c.4438-51T>A (n.4438-51T>A) c.4384-51T>A (n.4384-51T>A) c.4276-51T>A (n.4276-51T>A) c.4309-51T>A (n.4309-51T>A) c.4381-51T>A (n.4381-51T>A) | gnomAD v4 |
| 3 | g.38555812T>A | CA2665110736 | SCN5A | c.4435-52A>T (n.4435-52A>T) c.4438-52A>T (n.4438-52A>T) c.4384-52A>T (n.4384-52A>T) c.4276-52A>T (n.4276-52A>T) c.4309-52A>T (n.4309-52A>T) c.4381-52A>T (n.4381-52A>T) | gnomAD v4 |
| 3 | g.38555812T>C | CA1358563062 | SCN5A | c.4435-52A>G (n.4435-52A>G) c.4438-52A>G (n.4438-52A>G) c.4384-52A>G (n.4384-52A>G) c.4276-52A>G (n.4276-52A>G) c.4309-52A>G (n.4309-52A>G) c.4381-52A>G (n.4381-52A>G) | dbSNP gnomAD v4 |
| 3 | g.38555812T= | CA1358563064 | SCN5A | c.4435-52A= (n.4435-52A=) c.4438-52A= (n.4438-52A=) c.4384-52A= (n.4384-52A=) c.4276-52A= (n.4276-52A=) c.4309-52A= (n.4309-52A=) c.4381-52A= (n.4381-52A=) | |
| 3 | g.38555812_38555813delinsTG | CA1358563063 | SCN5A | c.4435-53_4435-52delinsCA (n.4435-53_4435-52delinsCA) c.4438-53_4438-52delinsCA (n.4438-53_4438-52delinsCA) c.4384-53_4384-52delinsCA (n.4384-53_4384-52delinsCA) c.4276-53_4276-52delinsCA (n.4276-53_4276-52delinsCA) c.4309-53_4309-52delinsCA (n.4309-53_4309-52delinsCA) c.4381-53_4381-52delinsCA (n.4381-53_4381-52delinsCA) |