OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38556503_38556506del | CA2586965726 | SCN5A | c.4373_4376del (p.Phe1458SerfsTer3) c.4376_4379del (p.Phe1459SerfsTer3) c.4322_4325del (p.Phe1441SerfsTer3) c.4214_4217del (p.Phe1405SerfsTer3) c.4247_4250del (p.Phe1416SerfsTer3) c.4319_4322del (p.Phe1440SerfsTer3) | |
| 3 | g.38556502A>C | CA352145338 | SCN5A | c.4373T>G (p.Phe1458Cys) c.4376T>G (p.Phe1459Cys) c.4322T>G (p.Phe1441Cys) c.4214T>G (p.Phe1405Cys) c.4247T>G (p.Phe1416Cys) c.4319T>G (p.Phe1440Cys) | |
| 3 | g.38556502A>G | CA352145340 | SCN5A | c.4373T>C (p.Phe1458Ser) c.4376T>C (p.Phe1459Ser) c.4322T>C (p.Phe1441Ser) c.4214T>C (p.Phe1405Ser) c.4247T>C (p.Phe1416Ser) c.4319T>C (p.Phe1440Ser) | |
| 3 | g.38556502A>T | CA352145339 | SCN5A | c.4373T>A (p.Phe1458Tyr) c.4376T>A (p.Phe1459Tyr) c.4322T>A (p.Phe1441Tyr) c.4214T>A (p.Phe1405Tyr) c.4247T>A (p.Phe1416Tyr) c.4319T>A (p.Phe1440Tyr) | |
| 3 | g.38556504del | CA2573136305 | SCN5A | c.4373del (p.Phe1458SerfsTer4) c.4376del (p.Phe1459SerfsTer4) c.4322del (p.Phe1441SerfsTer4) c.4214del (p.Phe1405SerfsTer4) c.4247del (p.Phe1416SerfsTer4) c.4319del (p.Phe1440SerfsTer4) | ClinVar dbSNP |
| 3 | g.38556503A>C | CA352145341 | SCN5A | c.4372T>G (p.Phe1458Val) c.4375T>G (p.Phe1459Val) c.4321T>G (p.Phe1441Val) c.4213T>G (p.Phe1405Val) c.4246T>G (p.Phe1416Val) c.4318T>G (p.Phe1440Val) | |
| 3 | g.38556503A>G | CA352145342 | SCN5A | c.4372T>C (p.Phe1458Leu) c.4375T>C (p.Phe1459Leu) c.4321T>C (p.Phe1441Leu) c.4213T>C (p.Phe1405Leu) c.4246T>C (p.Phe1416Leu) c.4318T>C (p.Phe1440Leu) | |
| 3 | g.38556503A>T | CA352145343 | SCN5A | c.4372T>A (p.Phe1458Ile) c.4375T>A (p.Phe1459Ile) c.4321T>A (p.Phe1441Ile) c.4213T>A (p.Phe1405Ile) c.4246T>A (p.Phe1416Ile) c.4318T>A (p.Phe1440Ile) | |
| 3 | g.38556504A>C | CA433136077 | SCN5A | c.4371T>G (p.Ser1457=) c.4374T>G (p.Ser1458=) c.4320T>G (p.Ser1440=) c.4212T>G (p.Ser1404=) c.4245T>G (p.Ser1415=) c.4317T>G (p.Ser1439=) | |
| 3 | g.38556504A>G | CA433136078 | SCN5A | c.4371T>C (p.Ser1457=) c.4374T>C (p.Ser1458=) c.4320T>C (p.Ser1440=) c.4212T>C (p.Ser1404=) c.4245T>C (p.Ser1415=) c.4317T>C (p.Ser1439=) | |
| 3 | g.38556504A>T | CA433136079 | SCN5A | c.4371T>A (p.Ser1457=) c.4374T>A (p.Ser1458=) c.4320T>A (p.Ser1440=) c.4212T>A (p.Ser1404=) c.4245T>A (p.Ser1415=) c.4317T>A (p.Ser1439=) | |
| 3 | g.38556505G>A | CA352145344 | SCN5A | c.4370C>T (p.Ser1457Phe) c.4373C>T (p.Ser1458Phe) c.4319C>T (p.Ser1440Phe) c.4211C>T (p.Ser1404Phe) c.4244C>T (p.Ser1415Phe) c.4316C>T (p.Ser1439Phe) | |
| 3 | g.38556505G>C | CA352145345 | SCN5A | c.4370C>G (p.Ser1457Cys) c.4373C>G (p.Ser1458Cys) c.4319C>G (p.Ser1440Cys) c.4211C>G (p.Ser1404Cys) c.4244C>G (p.Ser1415Cys) c.4316C>G (p.Ser1439Cys) | |
| 3 | g.38556505G= | CA1358563466 | SCN5A | c.4370C= (p.Ser1457=) c.4373C= (p.Ser1458=) c.4319C= (p.Ser1440=) c.4211C= (p.Ser1404=) c.4244C= (p.Ser1415=) c.4316C= (p.Ser1439=) | |
| 3 | g.38556505G>T | CA018188 | SCN5A | c.4370C>A (p.Ser1457Tyr) c.4373C>A (p.Ser1458Tyr) c.4319C>A (p.Ser1440Tyr) c.4211C>A (p.Ser1404Tyr) c.4244C>A (p.Ser1415Tyr) c.4316C>A (p.Ser1439Tyr) | ClinVar dbSNP |
| 3 | g.38556506A= | CA1358563468 | SCN5A | c.4369T= (p.Ser1457=) c.4372T= (p.Ser1458=) c.4318T= (p.Ser1440=) c.4210T= (p.Ser1404=) c.4243T= (p.Ser1415=) c.4315T= (p.Ser1439=) | |
| 3 | g.38556506A>C | CA352145346 | SCN5A | c.4369T>G (p.Ser1457Ala) c.4372T>G (p.Ser1458Ala) c.4318T>G (p.Ser1440Ala) c.4210T>G (p.Ser1404Ala) c.4243T>G (p.Ser1415Ala) c.4315T>G (p.Ser1439Ala) | |
| 3 | g.38556506A>G | CA352145347 | SCN5A | c.4369T>C (p.Ser1457Pro) c.4372T>C (p.Ser1458Pro) c.4318T>C (p.Ser1440Pro) c.4210T>C (p.Ser1404Pro) c.4243T>C (p.Ser1415Pro) c.4315T>C (p.Ser1439Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556506A>T | CA352145348 | SCN5A | c.4369T>A (p.Ser1457Thr) c.4372T>A (p.Ser1458Thr) c.4318T>A (p.Ser1440Thr) c.4210T>A (p.Ser1404Thr) c.4243T>A (p.Ser1415Thr) c.4315T>A (p.Ser1439Thr) | |
| 3 | g.38556507C>A | CA433136082 | SCN5A | c.4368G>T (p.Gly1456=) c.4371G>T (p.Gly1457=) c.4317G>T (p.Gly1439=) c.4209G>T (p.Gly1403=) c.4242G>T (p.Gly1414=) c.4314G>T (p.Gly1438=) | |
| 3 | g.38556507C= | CA1358563469 | SCN5A | c.4368G= (p.Gly1456=) c.4371G= (p.Gly1457=) c.4317G= (p.Gly1439=) c.4209G= (p.Gly1403=) c.4242G= (p.Gly1414=) c.4314G= (p.Gly1438=) | |
| 3 | g.38556507C>G | CA433136084 | SCN5A | c.4368G>C (p.Gly1456=) c.4371G>C (p.Gly1457=) c.4317G>C (p.Gly1439=) c.4209G>C (p.Gly1403=) c.4242G>C (p.Gly1414=) c.4314G>C (p.Gly1438=) | |
| 3 | g.38556507C>T | CA433136083 | SCN5A | c.4368G>A (p.Gly1456=) c.4371G>A (p.Gly1457=) c.4317G>A (p.Gly1439=) c.4209G>A (p.Gly1403=) c.4242G>A (p.Gly1414=) c.4314G>A (p.Gly1438=) | ClinVar dbSNP |
| 3 | g.38556508C>A | CA352145351 | SCN5A | c.4367G>T (p.Gly1456Val) c.4370G>T (p.Gly1457Val) c.4316G>T (p.Gly1439Val) c.4208G>T (p.Gly1403Val) c.4241G>T (p.Gly1414Val) c.4313G>T (p.Gly1438Val) | |
| 3 | g.38556508C>G | CA352145350 | SCN5A | c.4367G>C (p.Gly1456Ala) c.4370G>C (p.Gly1457Ala) c.4316G>C (p.Gly1439Ala) c.4208G>C (p.Gly1403Ala) c.4241G>C (p.Gly1414Ala) c.4313G>C (p.Gly1438Ala) | |
| 3 | g.38556508C>T | CA352145349 | SCN5A | c.4367G>A (p.Gly1456Glu) c.4370G>A (p.Gly1457Glu) c.4316G>A (p.Gly1439Glu) c.4208G>A (p.Gly1403Glu) c.4241G>A (p.Gly1414Glu) c.4313G>A (p.Gly1438Glu) | |
| 3 | g.38556509C>A | CA352145352 | SCN5A | c.4366G>T (p.Gly1456Trp) c.4369G>T (p.Gly1457Trp) c.4315G>T (p.Gly1439Trp) c.4207G>T (p.Gly1403Trp) c.4240G>T (p.Gly1414Trp) c.4312G>T (p.Gly1438Trp) | |
| 3 | g.38556509C>G | CA352145353 | SCN5A | c.4366G>C (p.Gly1456Arg) c.4369G>C (p.Gly1457Arg) c.4315G>C (p.Gly1439Arg) c.4207G>C (p.Gly1403Arg) c.4240G>C (p.Gly1414Arg) c.4312G>C (p.Gly1438Arg) | ClinVar |
| 3 | g.38556509C>T | CA352145354 | SCN5A | c.4366G>A (p.Gly1456Arg) c.4369G>A (p.Gly1457Arg) c.4315G>A (p.Gly1439Arg) c.4207G>A (p.Gly1403Arg) c.4240G>A (p.Gly1414Arg) c.4312G>A (p.Gly1438Arg) | |
| 3 | g.38556510A= | CA1358563471 | SCN5A | c.4365T= (p.Phe1455=) c.4368T= (p.Phe1456=) c.4314T= (p.Phe1438=) c.4206T= (p.Phe1402=) c.4239T= (p.Phe1413=) c.4311T= (p.Phe1437=) | |
| 3 | g.38556510A>C | CA352145355 | SCN5A | c.4365T>G (p.Phe1455Leu) c.4368T>G (p.Phe1456Leu) c.4314T>G (p.Phe1438Leu) c.4206T>G (p.Phe1402Leu) c.4239T>G (p.Phe1413Leu) c.4311T>G (p.Phe1437Leu) | |
| 3 | g.38556510A>G | CA433136089 | SCN5A | c.4365T>C (p.Phe1455=) c.4368T>C (p.Phe1456=) c.4314T>C (p.Phe1438=) c.4206T>C (p.Phe1402=) c.4239T>C (p.Phe1413=) c.4311T>C (p.Phe1437=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556510A>T | CA352145356 | SCN5A | c.4365T>A (p.Phe1455Leu) c.4368T>A (p.Phe1456Leu) c.4314T>A (p.Phe1438Leu) c.4206T>A (p.Phe1402Leu) c.4239T>A (p.Phe1413Leu) c.4311T>A (p.Phe1437Leu) | |
| 3 | g.38556511A>C | CA352145357 | SCN5A | c.4364T>G (p.Phe1455Cys) c.4367T>G (p.Phe1456Cys) c.4313T>G (p.Phe1438Cys) c.4205T>G (p.Phe1402Cys) c.4238T>G (p.Phe1413Cys) c.4310T>G (p.Phe1437Cys) | |
| 3 | g.38556511A>G | CA352145358 | SCN5A | c.4364T>C (p.Phe1455Ser) c.4367T>C (p.Phe1456Ser) c.4313T>C (p.Phe1438Ser) c.4205T>C (p.Phe1402Ser) c.4238T>C (p.Phe1413Ser) c.4310T>C (p.Phe1437Ser) | |
| 3 | g.38556511A>T | CA352145359 | SCN5A | c.4364T>A (p.Phe1455Tyr) c.4367T>A (p.Phe1456Tyr) c.4313T>A (p.Phe1438Tyr) c.4205T>A (p.Phe1402Tyr) c.4238T>A (p.Phe1413Tyr) c.4310T>A (p.Phe1437Tyr) | |
| 3 | g.38556511_38556512insCACACCCAACAC | CA2755901508 | SCN5A | c.4363_4364insGTGTTGGGTGTG (p.Phe1455delinsCysValGlyCysVal) c.4366_4367insGTGTTGGGTGTG (p.Phe1456delinsCysValGlyCysVal) c.4312_4313insGTGTTGGGTGTG (p.Phe1438delinsCysValGlyCysVal) c.4204_4205insGTGTTGGGTGTG (p.Phe1402delinsCysValGlyCysVal) c.4237_4238insGTGTTGGGTGTG (p.Phe1413delinsCysValGlyCysVal) c.4309_4310insGTGTTGGGTGTG (p.Phe1437delinsCysValGlyCysVal) | |
| 3 | g.38556512A>C | CA352145360 | SCN5A | c.4363T>G (p.Phe1455Val) c.4366T>G (p.Phe1456Val) c.4312T>G (p.Phe1438Val) c.4204T>G (p.Phe1402Val) c.4237T>G (p.Phe1413Val) c.4309T>G (p.Phe1437Val) | |
| 3 | g.38556512A>G | CA352145361 | SCN5A | c.4363T>C (p.Phe1455Leu) c.4366T>C (p.Phe1456Leu) c.4312T>C (p.Phe1438Leu) c.4204T>C (p.Phe1402Leu) c.4237T>C (p.Phe1413Leu) c.4309T>C (p.Phe1437Leu) | ClinVar gnomAD v4 |
| 3 | g.38556512A>T | CA352145362 | SCN5A | c.4363T>A (p.Phe1455Ile) c.4366T>A (p.Phe1456Ile) c.4312T>A (p.Phe1438Ile) c.4204T>A (p.Phe1402Ile) c.4237T>A (p.Phe1413Ile) c.4309T>A (p.Phe1437Ile) | |
| 3 | g.38556513G>A | CA433136093 | SCN5A | c.4362C>T (p.Ile1454=) c.4365C>T (p.Ile1455=) c.4311C>T (p.Ile1437=) c.4203C>T (p.Ile1401=) c.4236C>T (p.Ile1412=) c.4308C>T (p.Ile1436=) | |
| 3 | g.38556513G>C | CA352145363 | SCN5A | c.4362C>G (p.Ile1454Met) c.4365C>G (p.Ile1455Met) c.4311C>G (p.Ile1437Met) c.4203C>G (p.Ile1401Met) c.4236C>G (p.Ile1412Met) c.4308C>G (p.Ile1436Met) | |
| 3 | g.38556513G= | CA1358563472 | SCN5A | c.4362C= (p.Ile1454=) c.4365C= (p.Ile1455=) c.4311C= (p.Ile1437=) c.4203C= (p.Ile1401=) c.4236C= (p.Ile1412=) c.4308C= (p.Ile1436=) | |
| 3 | g.38556513G>T | CA72943334 | SCN5A | c.4362C>A (p.Ile1454=) c.4365C>A (p.Ile1455=) c.4311C>A (p.Ile1437=) c.4203C>A (p.Ile1401=) c.4236C>A (p.Ile1412=) c.4308C>A (p.Ile1436=) | ClinVar dbSNP |
| 3 | g.38556514A>C | CA352145364 | SCN5A | c.4361T>G (p.Ile1454Ser) c.4364T>G (p.Ile1455Ser) c.4310T>G (p.Ile1437Ser) c.4202T>G (p.Ile1401Ser) c.4235T>G (p.Ile1412Ser) c.4307T>G (p.Ile1436Ser) | |
| 3 | g.38556514A>G | CA352145366 | SCN5A | c.4361T>C (p.Ile1454Thr) c.4364T>C (p.Ile1455Thr) c.4310T>C (p.Ile1437Thr) c.4202T>C (p.Ile1401Thr) c.4235T>C (p.Ile1412Thr) c.4307T>C (p.Ile1436Thr) | ClinVar gnomAD v4 |
| 3 | g.38556514A>T | CA352145365 | SCN5A | c.4361T>A (p.Ile1454Asn) c.4364T>A (p.Ile1455Asn) c.4310T>A (p.Ile1437Asn) c.4202T>A (p.Ile1401Asn) c.4235T>A (p.Ile1412Asn) c.4307T>A (p.Ile1436Asn) | |
| 3 | g.38556515T>A | CA352145367 | SCN5A | c.4360A>T (p.Ile1454Phe) c.4363A>T (p.Ile1455Phe) c.4309A>T (p.Ile1437Phe) c.4201A>T (p.Ile1401Phe) c.4234A>T (p.Ile1412Phe) c.4306A>T (p.Ile1436Phe) | |
| 3 | g.38556515T>C | CA352145368 | SCN5A | c.4360A>G (p.Ile1454Val) c.4363A>G (p.Ile1455Val) c.4309A>G (p.Ile1437Val) c.4201A>G (p.Ile1401Val) c.4234A>G (p.Ile1412Val) c.4306A>G (p.Ile1436Val) | |
| 3 | g.38556515T>G | CA352145369 | SCN5A | c.4360A>C (p.Ile1454Leu) c.4363A>C (p.Ile1455Leu) c.4309A>C (p.Ile1437Leu) c.4201A>C (p.Ile1401Leu) c.4234A>C (p.Ile1412Leu) c.4306A>C (p.Ile1436Leu) | |
| 3 | g.38556516G>A | CA433136097 | SCN5A | c.4359C>T (p.Ile1453=) c.4362C>T (p.Ile1454=) c.4308C>T (p.Ile1436=) c.4200C>T (p.Ile1400=) c.4233C>T (p.Ile1411=) c.4305C>T (p.Ile1435=) | |
| 3 | g.38556516G>C | CA352145370 | SCN5A | c.4359C>G (p.Ile1453Met) c.4362C>G (p.Ile1454Met) c.4308C>G (p.Ile1436Met) c.4200C>G (p.Ile1400Met) c.4233C>G (p.Ile1411Met) c.4305C>G (p.Ile1435Met) | |
| 3 | g.38556516G>T | CA433136098 | SCN5A | c.4359C>A (p.Ile1453=) c.4362C>A (p.Ile1454=) c.4308C>A (p.Ile1436=) c.4200C>A (p.Ile1400=) c.4233C>A (p.Ile1411=) c.4305C>A (p.Ile1435=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556517A>C | CA352145371 | SCN5A | c.4358T>G (p.Ile1453Ser) c.4361T>G (p.Ile1454Ser) c.4307T>G (p.Ile1436Ser) c.4199T>G (p.Ile1400Ser) c.4232T>G (p.Ile1411Ser) c.4304T>G (p.Ile1435Ser) | |
| 3 | g.38556517A>G | CA352145372 | SCN5A | c.4358T>C (p.Ile1453Thr) c.4361T>C (p.Ile1454Thr) c.4307T>C (p.Ile1436Thr) c.4199T>C (p.Ile1400Thr) c.4232T>C (p.Ile1411Thr) c.4304T>C (p.Ile1435Thr) | |
| 3 | g.38556517A>T | CA352145373 | SCN5A | c.4358T>A (p.Ile1453Asn) c.4361T>A (p.Ile1454Asn) c.4307T>A (p.Ile1436Asn) c.4199T>A (p.Ile1400Asn) c.4232T>A (p.Ile1411Asn) c.4304T>A (p.Ile1435Asn) | |
| 3 | g.38556518T>A | CA352145374 | SCN5A | c.4357A>T (p.Ile1453Phe) c.4360A>T (p.Ile1454Phe) c.4306A>T (p.Ile1436Phe) c.4198A>T (p.Ile1400Phe) c.4231A>T (p.Ile1411Phe) c.4303A>T (p.Ile1435Phe) | |
| 3 | g.38556518T>C | CA352145375 | SCN5A | c.4357A>G (p.Ile1453Val) c.4360A>G (p.Ile1454Val) c.4306A>G (p.Ile1436Val) c.4198A>G (p.Ile1400Val) c.4231A>G (p.Ile1411Val) c.4303A>G (p.Ile1435Val) | ClinVar |
| 3 | g.38556518T>G | CA352145376 | SCN5A | c.4357A>C (p.Ile1453Leu) c.4360A>C (p.Ile1454Leu) c.4306A>C (p.Ile1436Leu) c.4198A>C (p.Ile1400Leu) c.4231A>C (p.Ile1411Leu) c.4303A>C (p.Ile1435Leu) | |
| 3 | g.38556519G>A | CA72943339 | SCN5A | c.4356C>T (p.Phe1452=) c.4359C>T (p.Phe1453=) c.4305C>T (p.Phe1435=) c.4197C>T (p.Phe1399=) c.4230C>T (p.Phe1410=) c.4302C>T (p.Phe1434=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556519G>C | CA352145378 | SCN5A | c.4356C>G (p.Phe1452Leu) c.4359C>G (p.Phe1453Leu) c.4305C>G (p.Phe1435Leu) c.4197C>G (p.Phe1399Leu) c.4230C>G (p.Phe1410Leu) c.4302C>G (p.Phe1434Leu) | |
| 3 | g.38556519G= | CA1358563474 | SCN5A | c.4356C= (p.Phe1452=) c.4359C= (p.Phe1453=) c.4305C= (p.Phe1435=) c.4197C= (p.Phe1399=) c.4230C= (p.Phe1410=) c.4302C= (p.Phe1434=) | |
| 3 | g.38556519G>T | CA352145377 | SCN5A | c.4356C>A (p.Phe1452Leu) c.4359C>A (p.Phe1453Leu) c.4305C>A (p.Phe1435Leu) c.4197C>A (p.Phe1399Leu) c.4230C>A (p.Phe1410Leu) c.4302C>A (p.Phe1434Leu) | |
| 3 | g.38556520A>C | CA352145379 | SCN5A | c.4355T>G (p.Phe1452Cys) c.4358T>G (p.Phe1453Cys) c.4304T>G (p.Phe1435Cys) c.4196T>G (p.Phe1399Cys) c.4229T>G (p.Phe1410Cys) c.4301T>G (p.Phe1434Cys) | |
| 3 | g.38556520A>G | CA352145380 | SCN5A | c.4355T>C (p.Phe1452Ser) c.4358T>C (p.Phe1453Ser) c.4304T>C (p.Phe1435Ser) c.4196T>C (p.Phe1399Ser) c.4229T>C (p.Phe1410Ser) c.4301T>C (p.Phe1434Ser) | gnomAD v4 |
| 3 | g.38556520A>T | CA352145381 | SCN5A | c.4355T>A (p.Phe1452Tyr) c.4358T>A (p.Phe1453Tyr) c.4304T>A (p.Phe1435Tyr) c.4196T>A (p.Phe1399Tyr) c.4229T>A (p.Phe1410Tyr) c.4301T>A (p.Phe1434Tyr) | |
| 3 | g.38556521A>C | CA352145382 | SCN5A | c.4354T>G (p.Phe1452Val) c.4357T>G (p.Phe1453Val) c.4303T>G (p.Phe1435Val) c.4195T>G (p.Phe1399Val) c.4228T>G (p.Phe1410Val) c.4300T>G (p.Phe1434Val) | |
| 3 | g.38556521A>G | CA352145383 | SCN5A | c.4354T>C (p.Phe1452Leu) c.4357T>C (p.Phe1453Leu) c.4303T>C (p.Phe1435Leu) c.4195T>C (p.Phe1399Leu) c.4228T>C (p.Phe1410Leu) c.4300T>C (p.Phe1434Leu) | |
| 3 | g.38556521A>T | CA352145385 | SCN5A | c.4354T>A (p.Phe1452Ile) c.4357T>A (p.Phe1453Ile) c.4303T>A (p.Phe1435Ile) c.4195T>A (p.Phe1399Ile) c.4228T>A (p.Phe1410Ile) c.4300T>A (p.Phe1434Ile) | |
| 3 | g.38556522A>C | CA352145388 | SCN5A | c.4353T>G (p.Ile1451Met) c.4356T>G (p.Ile1452Met) c.4302T>G (p.Ile1434Met) c.4194T>G (p.Ile1398Met) c.4227T>G (p.Ile1409Met) c.4299T>G (p.Ile1433Met) | |
| 3 | g.38556522A>G | CA433136105 | SCN5A | c.4353T>C (p.Ile1451=) c.4356T>C (p.Ile1452=) c.4302T>C (p.Ile1434=) c.4194T>C (p.Ile1398=) c.4227T>C (p.Ile1409=) c.4299T>C (p.Ile1433=) | |
| 3 | g.38556522A>T | CA433136106 | SCN5A | c.4353T>A (p.Ile1451=) c.4356T>A (p.Ile1452=) c.4302T>A (p.Ile1434=) c.4194T>A (p.Ile1398=) c.4227T>A (p.Ile1409=) c.4299T>A (p.Ile1433=) | |
| 3 | g.38556523A>C | CA352145389 | SCN5A | c.4352T>G (p.Ile1451Ser) c.4355T>G (p.Ile1452Ser) c.4301T>G (p.Ile1434Ser) c.4193T>G (p.Ile1398Ser) c.4226T>G (p.Ile1409Ser) c.4298T>G (p.Ile1433Ser) | |
| 3 | g.38556523A>G | CA352145390 | SCN5A | c.4352T>C (p.Ile1451Thr) c.4355T>C (p.Ile1452Thr) c.4301T>C (p.Ile1434Thr) c.4193T>C (p.Ile1398Thr) c.4226T>C (p.Ile1409Thr) c.4298T>C (p.Ile1433Thr) | ClinVar |
| 3 | g.38556523A>T | CA352145391 | SCN5A | c.4352T>A (p.Ile1451Asn) c.4355T>A (p.Ile1452Asn) c.4301T>A (p.Ile1434Asn) c.4193T>A (p.Ile1398Asn) c.4226T>A (p.Ile1409Asn) c.4298T>A (p.Ile1433Asn) | |
| 3 | g.38556524T>A | CA352145394 | SCN5A | c.4351A>T (p.Ile1451Phe) c.4354A>T (p.Ile1452Phe) c.4300A>T (p.Ile1434Phe) c.4192A>T (p.Ile1398Phe) c.4225A>T (p.Ile1409Phe) c.4297A>T (p.Ile1433Phe) | |
| 3 | g.38556524T>C | CA352145396 | SCN5A | c.4351A>G (p.Ile1451Val) c.4354A>G (p.Ile1452Val) c.4300A>G (p.Ile1434Val) c.4192A>G (p.Ile1398Val) c.4225A>G (p.Ile1409Val) c.4297A>G (p.Ile1433Val) | |
| 3 | g.38556524T>G | CA352145398 | SCN5A | c.4351A>C (p.Ile1451Leu) c.4354A>C (p.Ile1452Leu) c.4300A>C (p.Ile1434Leu) c.4192A>C (p.Ile1398Leu) c.4225A>C (p.Ile1409Leu) c.4297A>C (p.Ile1433Leu) | |
| 3 | g.38556525G>A | CA433136115 | SCN5A | c.4350C>T (p.Val1450=) c.4353C>T (p.Val1451=) c.4299C>T (p.Val1433=) c.4191C>T (p.Val1397=) c.4224C>T (p.Val1408=) c.4296C>T (p.Val1432=) | |
| 3 | g.38556525G>C | CA433136114 | SCN5A | c.4350C>G (p.Val1450=) c.4353C>G (p.Val1451=) c.4299C>G (p.Val1433=) c.4191C>G (p.Val1397=) c.4224C>G (p.Val1408=) c.4296C>G (p.Val1432=) | ClinVar dbSNP |
| 3 | g.38556525G>T | CA433136113 | SCN5A | c.4350C>A (p.Val1450=) c.4353C>A (p.Val1451=) c.4299C>A (p.Val1433=) c.4191C>A (p.Val1397=) c.4224C>A (p.Val1408=) c.4296C>A (p.Val1432=) | COSMIC COSMIC COSMIC |
| 3 | g.38556526A= | CA1358563476 | SCN5A | c.4349T= (p.Val1450=) c.4352T= (p.Val1451=) c.4298T= (p.Val1433=) c.4190T= (p.Val1397=) c.4223T= (p.Val1408=) c.4295T= (p.Val1432=) | |
| 3 | g.38556526A>C | CA352145405 | SCN5A | c.4349T>G (p.Val1450Gly) c.4352T>G (p.Val1451Gly) c.4298T>G (p.Val1433Gly) c.4190T>G (p.Val1397Gly) c.4223T>G (p.Val1408Gly) c.4295T>G (p.Val1432Gly) | |
| 3 | g.38556526A>G | CA352145403 | SCN5A | c.4349T>C (p.Val1450Ala) c.4352T>C (p.Val1451Ala) c.4298T>C (p.Val1433Ala) c.4190T>C (p.Val1397Ala) c.4223T>C (p.Val1408Ala) c.4295T>C (p.Val1432Ala) | |
| 3 | g.38556526A>T | CA018169 | SCN5A | c.4349T>A (p.Val1450Asp) c.4352T>A (p.Val1451Asp) c.4298T>A (p.Val1433Asp) c.4190T>A (p.Val1397Asp) c.4223T>A (p.Val1408Asp) c.4295T>A (p.Val1432Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556527C>A | CA352145408 | SCN5A | c.4348G>T (p.Val1450Phe) c.4351G>T (p.Val1451Phe) c.4297G>T (p.Val1433Phe) c.4189G>T (p.Val1397Phe) c.4222G>T (p.Val1408Phe) c.4294G>T (p.Val1432Phe) | |
| 3 | g.38556527C= | CA1358563479 | SCN5A | c.4348G= (p.Val1450=) c.4351G= (p.Val1451=) c.4297G= (p.Val1433=) c.4189G= (p.Val1397=) c.4222G= (p.Val1408=) c.4294G= (p.Val1432=) | |
| 3 | g.38556527C>G | CA10576614 | SCN5A | c.4348G>C (p.Val1450Leu) c.4351G>C (p.Val1451Leu) c.4297G>C (p.Val1433Leu) c.4189G>C (p.Val1397Leu) c.4222G>C (p.Val1408Leu) c.4294G>C (p.Val1432Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556527C>T | CA352145411 | SCN5A | c.4348G>A (p.Val1450Ile) c.4351G>A (p.Val1451Ile) c.4297G>A (p.Val1433Ile) c.4189G>A (p.Val1397Ile) c.4222G>A (p.Val1408Ile) c.4294G>A (p.Val1432Ile) | |
| 3 | g.38556528A>C | CA352145413 | SCN5A | c.4347T>G (p.Phe1449Leu) c.4350T>G (p.Phe1450Leu) c.4296T>G (p.Phe1432Leu) c.4188T>G (p.Phe1396Leu) c.4221T>G (p.Phe1407Leu) c.4293T>G (p.Phe1431Leu) | |
| 3 | g.38556528A>G | CA433136122 | SCN5A | c.4347T>C (p.Phe1449=) c.4350T>C (p.Phe1450=) c.4296T>C (p.Phe1432=) c.4188T>C (p.Phe1396=) c.4221T>C (p.Phe1407=) c.4293T>C (p.Phe1431=) | ClinVar dbSNP |
| 3 | g.38556528A>T | CA352145415 | SCN5A | c.4347T>A (p.Phe1449Leu) c.4350T>A (p.Phe1450Leu) c.4296T>A (p.Phe1432Leu) c.4188T>A (p.Phe1396Leu) c.4221T>A (p.Phe1407Leu) c.4293T>A (p.Phe1431Leu) | |
| 3 | g.38556529A>C | CA352145417 | SCN5A | c.4346T>G (p.Phe1449Cys) c.4349T>G (p.Phe1450Cys) c.4295T>G (p.Phe1432Cys) c.4187T>G (p.Phe1396Cys) c.4220T>G (p.Phe1407Cys) c.4292T>G (p.Phe1431Cys) | |
| 3 | g.38556529A>G | CA352145418 | SCN5A | c.4346T>C (p.Phe1449Ser) c.4349T>C (p.Phe1450Ser) c.4295T>C (p.Phe1432Ser) c.4187T>C (p.Phe1396Ser) c.4220T>C (p.Phe1407Ser) c.4292T>C (p.Phe1431Ser) | |
| 3 | g.38556529A>T | CA352145419 | SCN5A | c.4346T>A (p.Phe1449Tyr) c.4349T>A (p.Phe1450Tyr) c.4295T>A (p.Phe1432Tyr) c.4187T>A (p.Phe1396Tyr) c.4220T>A (p.Phe1407Tyr) c.4292T>A (p.Phe1431Tyr) | |
| 3 | g.38556530A>C | CA352145420 | SCN5A | c.4345T>G (p.Phe1449Val) c.4348T>G (p.Phe1450Val) c.4294T>G (p.Phe1432Val) c.4186T>G (p.Phe1396Val) c.4219T>G (p.Phe1407Val) c.4291T>G (p.Phe1431Val) | |
| 3 | g.38556530A>G | CA352145421 | SCN5A | c.4345T>C (p.Phe1449Leu) c.4348T>C (p.Phe1450Leu) c.4294T>C (p.Phe1432Leu) c.4186T>C (p.Phe1396Leu) c.4219T>C (p.Phe1407Leu) c.4291T>C (p.Phe1431Leu) | |
| 3 | g.38556530A>T | CA352145422 | SCN5A | c.4345T>A (p.Phe1449Ile) c.4348T>A (p.Phe1450Ile) c.4294T>A (p.Phe1432Ile) c.4186T>A (p.Phe1396Ile) c.4219T>A (p.Phe1407Ile) c.4291T>A (p.Phe1431Ile) | |
| 3 | g.38556531A>C | CA352145423 | SCN5A | c.4344T>G (p.Tyr1448Ter) c.4347T>G (p.Tyr1449Ter) c.4293T>G (p.Tyr1431Ter) c.4185T>G (p.Tyr1395Ter) c.4218T>G (p.Tyr1406Ter) c.4290T>G (p.Tyr1430Ter) | |
| 3 | g.38556531A>G | CA433136127 | SCN5A | c.4344T>C (p.Tyr1448=) c.4347T>C (p.Tyr1449=) c.4293T>C (p.Tyr1431=) c.4185T>C (p.Tyr1395=) c.4218T>C (p.Tyr1406=) c.4290T>C (p.Tyr1430=) | ClinVar |
| 3 | g.38556531A>T | CA352145424 | SCN5A | c.4344T>A (p.Tyr1448Ter) c.4347T>A (p.Tyr1449Ter) c.4293T>A (p.Tyr1431Ter) c.4185T>A (p.Tyr1395Ter) c.4218T>A (p.Tyr1406Ter) c.4290T>A (p.Tyr1430Ter) | |
| 3 | g.38556532T>A | CA352145426 | SCN5A | c.4343A>T (p.Tyr1448Phe) c.4346A>T (p.Tyr1449Phe) c.4292A>T (p.Tyr1431Phe) c.4184A>T (p.Tyr1395Phe) c.4217A>T (p.Tyr1406Phe) c.4289A>T (p.Tyr1430Phe) | ClinVar dbSNP |
| 3 | g.38556532T>C | CA018163 | SCN5A | c.4343A>G (p.Tyr1448Cys) c.4346A>G (p.Tyr1449Cys) c.4292A>G (p.Tyr1431Cys) c.4184A>G (p.Tyr1395Cys) c.4217A>G (p.Tyr1406Cys) c.4289A>G (p.Tyr1430Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556532T>G | CA352145425 | SCN5A | c.4343A>C (p.Tyr1448Ser) c.4346A>C (p.Tyr1449Ser) c.4292A>C (p.Tyr1431Ser) c.4184A>C (p.Tyr1395Ser) c.4217A>C (p.Tyr1406Ser) c.4289A>C (p.Tyr1430Ser) | ClinVar |
| 3 | g.38556532T= | CA1358563482 | SCN5A | c.4343A= (p.Tyr1448=) c.4346A= (p.Tyr1449=) c.4292A= (p.Tyr1431=) c.4184A= (p.Tyr1395=) c.4217A= (p.Tyr1406=) c.4289A= (p.Tyr1430=) | |
| 3 | g.38556533A>C | CA352145427 | SCN5A | c.4342T>G (p.Tyr1448Asp) c.4345T>G (p.Tyr1449Asp) c.4291T>G (p.Tyr1431Asp) c.4183T>G (p.Tyr1395Asp) c.4216T>G (p.Tyr1406Asp) c.4288T>G (p.Tyr1430Asp) | |
| 3 | g.38556533A>G | CA352145428 | SCN5A | c.4342T>C (p.Tyr1448His) c.4345T>C (p.Tyr1449His) c.4291T>C (p.Tyr1431His) c.4183T>C (p.Tyr1395His) c.4216T>C (p.Tyr1406His) c.4288T>C (p.Tyr1430His) | |
| 3 | g.38556533A>T | CA352145429 | SCN5A | c.4342T>A (p.Tyr1448Asn) c.4345T>A (p.Tyr1449Asn) c.4291T>A (p.Tyr1431Asn) c.4183T>A (p.Tyr1395Asn) c.4216T>A (p.Tyr1406Asn) c.4288T>A (p.Tyr1430Asn) | |
| 3 | g.38556534G>A | CA433136131 | SCN5A | c.4341C>T (p.Ile1447=) c.4344C>T (p.Ile1448=) c.4290C>T (p.Ile1430=) c.4182C>T (p.Ile1394=) c.4215C>T (p.Ile1405=) c.4287C>T (p.Ile1429=) | |
| 3 | g.38556534G>C | CA352145430 | SCN5A | c.4341C>G (p.Ile1447Met) c.4344C>G (p.Ile1448Met) c.4290C>G (p.Ile1430Met) c.4182C>G (p.Ile1394Met) c.4215C>G (p.Ile1405Met) c.4287C>G (p.Ile1429Met) | |
| 3 | g.38556534G>T | CA433136132 | SCN5A | c.4341C>A (p.Ile1447=) c.4344C>A (p.Ile1448=) c.4290C>A (p.Ile1430=) c.4182C>A (p.Ile1394=) c.4215C>A (p.Ile1405=) c.4287C>A (p.Ile1429=) | |
| 3 | g.38556535A= | CA1358563487 | SCN5A | c.4340T= (p.Ile1447=) c.4343T= (p.Ile1448=) c.4289T= (p.Ile1430=) c.4181T= (p.Ile1394=) c.4214T= (p.Ile1405=) c.4286T= (p.Ile1429=) | |
| 3 | g.38556535A>C | CA352145431 | SCN5A | c.4340T>G (p.Ile1447Ser) c.4343T>G (p.Ile1448Ser) c.4289T>G (p.Ile1430Ser) c.4181T>G (p.Ile1394Ser) c.4214T>G (p.Ile1405Ser) c.4286T>G (p.Ile1429Ser) | |
| 3 | g.38556535A>G | CA018157 | SCN5A | c.4340T>C (p.Ile1447Thr) c.4343T>C (p.Ile1448Thr) c.4289T>C (p.Ile1430Thr) c.4181T>C (p.Ile1394Thr) c.4214T>C (p.Ile1405Thr) c.4286T>C (p.Ile1429Thr) | ClinVar dbSNP |
| 3 | g.38556535A>T | CA352145432 | SCN5A | c.4340T>A (p.Ile1447Asn) c.4343T>A (p.Ile1448Asn) c.4289T>A (p.Ile1430Asn) c.4181T>A (p.Ile1394Asn) c.4214T>A (p.Ile1405Asn) c.4286T>A (p.Ile1429Asn) | gnomAD v4 |
| 3 | g.38556536T>A | CA352145433 | SCN5A | c.4339A>T (p.Ile1447Phe) c.4342A>T (p.Ile1448Phe) c.4288A>T (p.Ile1430Phe) c.4180A>T (p.Ile1394Phe) c.4213A>T (p.Ile1405Phe) c.4285A>T (p.Ile1429Phe) | |
| 3 | g.38556536T>C | CA352145434 | SCN5A | c.4339A>G (p.Ile1447Val) c.4342A>G (p.Ile1448Val) c.4288A>G (p.Ile1430Val) c.4180A>G (p.Ile1394Val) c.4213A>G (p.Ile1405Val) c.4285A>G (p.Ile1429Val) | |
| 3 | g.38556536T>G | CA018152 | SCN5A | c.4339A>C (p.Ile1447Leu) c.4342A>C (p.Ile1448Leu) c.4288A>C (p.Ile1430Leu) c.4180A>C (p.Ile1394Leu) c.4213A>C (p.Ile1405Leu) c.4285A>C (p.Ile1429Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556536T= | CA1358563492 | SCN5A | c.4339A= (p.Ile1447=) c.4342A= (p.Ile1448=) c.4288A= (p.Ile1430=) c.4180A= (p.Ile1394=) c.4213A= (p.Ile1405=) c.4285A= (p.Ile1429=) | |
| 3 | g.38556537G>A | CA433136138 | SCN5A | c.4338C>T (p.Tyr1446=) c.4341C>T (p.Tyr1447=) c.4287C>T (p.Tyr1429=) c.4179C>T (p.Tyr1393=) c.4212C>T (p.Tyr1404=) c.4284C>T (p.Tyr1428=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556537G>C | CA352145435 | SCN5A | c.4338C>G (p.Tyr1446Ter) c.4341C>G (p.Tyr1447Ter) c.4287C>G (p.Tyr1429Ter) c.4179C>G (p.Tyr1393Ter) c.4212C>G (p.Tyr1404Ter) c.4284C>G (p.Tyr1428Ter) | |
| 3 | g.38556537G= | CA1358563501 | SCN5A | c.4338C= (p.Tyr1446=) c.4341C= (p.Tyr1447=) c.4287C= (p.Tyr1429=) c.4179C= (p.Tyr1393=) c.4212C= (p.Tyr1404=) c.4284C= (p.Tyr1428=) | |
| 3 | g.38556537G>T | CA352145436 | SCN5A | c.4338C>A (p.Tyr1446Ter) c.4341C>A (p.Tyr1447Ter) c.4287C>A (p.Tyr1429Ter) c.4179C>A (p.Tyr1393Ter) c.4212C>A (p.Tyr1404Ter) c.4284C>A (p.Tyr1428Ter) | |
| 3 | g.38556538T>A | CA352145439 | SCN5A | c.4337A>T (p.Tyr1446Phe) c.4340A>T (p.Tyr1447Phe) c.4286A>T (p.Tyr1429Phe) c.4178A>T (p.Tyr1393Phe) c.4211A>T (p.Tyr1404Phe) c.4283A>T (p.Tyr1428Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38556538T>C | CA352145437 | SCN5A | c.4337A>G (p.Tyr1446Cys) c.4340A>G (p.Tyr1447Cys) c.4286A>G (p.Tyr1429Cys) c.4178A>G (p.Tyr1393Cys) c.4211A>G (p.Tyr1404Cys) c.4283A>G (p.Tyr1428Cys) | |
| 3 | g.38556538T>G | CA352145438 | SCN5A | c.4337A>C (p.Tyr1446Ser) c.4340A>C (p.Tyr1447Ser) c.4286A>C (p.Tyr1429Ser) c.4178A>C (p.Tyr1393Ser) c.4211A>C (p.Tyr1404Ser) c.4283A>C (p.Tyr1428Ser) | |
| 3 | g.38556539A= | CA1358563505 | SCN5A | c.4336T= (p.Tyr1446=) c.4339T= (p.Tyr1447=) c.4285T= (p.Tyr1429=) c.4177T= (p.Tyr1393=) c.4210T= (p.Tyr1404=) c.4282T= (p.Tyr1428=) | |
| 3 | g.38556539A>C | CA352145440 | SCN5A | c.4336T>G (p.Tyr1446Asp) c.4339T>G (p.Tyr1447Asp) c.4285T>G (p.Tyr1429Asp) c.4177T>G (p.Tyr1393Asp) c.4210T>G (p.Tyr1404Asp) c.4282T>G (p.Tyr1428Asp) | gnomAD v4 |
| 3 | g.38556539A>G | CA16617946 | SCN5A | c.4336T>C (p.Tyr1446His) c.4339T>C (p.Tyr1447His) c.4285T>C (p.Tyr1429His) c.4177T>C (p.Tyr1393His) c.4210T>C (p.Tyr1404His) c.4282T>C (p.Tyr1428His) | ClinVar dbSNP |
| 3 | g.38556539A>T | CA352145441 | SCN5A | c.4336T>A (p.Tyr1446Asn) c.4339T>A (p.Tyr1447Asn) c.4285T>A (p.Tyr1429Asn) c.4177T>A (p.Tyr1393Asn) c.4210T>A (p.Tyr1404Asn) c.4282T>A (p.Tyr1428Asn) | gnomAD v4 |
| 3 | g.38556540C>A | CA352145442 | SCN5A | c.4335G>T (p.Met1445Ile) c.4338G>T (p.Met1446Ile) c.4284G>T (p.Met1428Ile) c.4176G>T (p.Met1392Ile) c.4209G>T (p.Met1403Ile) c.4281G>T (p.Met1427Ile) | gnomAD v4 |
| 3 | g.38556540C= | CA1358563508 | SCN5A | c.4335G= (p.Met1445=) c.4338G= (p.Met1446=) c.4284G= (p.Met1428=) c.4176G= (p.Met1392=) c.4209G= (p.Met1403=) c.4281G= (p.Met1427=) | |
| 3 | g.38556540C>G | CA352145443 | SCN5A | c.4335G>C (p.Met1445Ile) c.4338G>C (p.Met1446Ile) c.4284G>C (p.Met1428Ile) c.4176G>C (p.Met1392Ile) c.4209G>C (p.Met1403Ile) c.4281G>C (p.Met1427Ile) | |
| 3 | g.38556540C>T | CA018146 | SCN5A | c.4335G>A (p.Met1445Ile) c.4338G>A (p.Met1446Ile) c.4284G>A (p.Met1428Ile) c.4176G>A (p.Met1392Ile) c.4209G>A (p.Met1403Ile) c.4281G>A (p.Met1427Ile) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556541A= | CA1358563512 | SCN5A | c.4334T= (p.Met1445=) c.4337T= (p.Met1446=) c.4283T= (p.Met1428=) c.4175T= (p.Met1392=) c.4208T= (p.Met1403=) c.4280T= (p.Met1427=) | |
| 3 | g.38556541A>C | CA352145444 | SCN5A | c.4334T>G (p.Met1445Arg) c.4337T>G (p.Met1446Arg) c.4283T>G (p.Met1428Arg) c.4175T>G (p.Met1392Arg) c.4208T>G (p.Met1403Arg) c.4280T>G (p.Met1427Arg) | |
| 3 | g.38556541A>G | CA352145445 | SCN5A | c.4334T>C (p.Met1445Thr) c.4337T>C (p.Met1446Thr) c.4283T>C (p.Met1428Thr) c.4175T>C (p.Met1392Thr) c.4208T>C (p.Met1403Thr) c.4280T>C (p.Met1427Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556541A>T | CA352145446 | SCN5A | c.4334T>A (p.Met1445Lys) c.4337T>A (p.Met1446Lys) c.4283T>A (p.Met1428Lys) c.4175T>A (p.Met1392Lys) c.4208T>A (p.Met1403Lys) c.4280T>A (p.Met1427Lys) | |
| 3 | g.38556542T>A | CA352145447 | SCN5A | c.4333A>T (p.Met1445Leu) c.4336A>T (p.Met1446Leu) c.4282A>T (p.Met1428Leu) c.4174A>T (p.Met1392Leu) c.4207A>T (p.Met1403Leu) c.4279A>T (p.Met1427Leu) | |
| 3 | g.38556542T>C | CA352145448 | SCN5A | c.4333A>G (p.Met1445Val) c.4336A>G (p.Met1446Val) c.4282A>G (p.Met1428Val) c.4174A>G (p.Met1392Val) c.4207A>G (p.Met1403Val) c.4279A>G (p.Met1427Val) | dbSNP |
| 3 | g.38556542T>G | CA352145449 | SCN5A | c.4333A>C (p.Met1445Leu) c.4336A>C (p.Met1446Leu) c.4282A>C (p.Met1428Leu) c.4174A>C (p.Met1392Leu) c.4207A>C (p.Met1403Leu) c.4279A>C (p.Met1427Leu) | |
| 3 | g.38556542T= | CA1358563514 | SCN5A | c.4333A= (p.Met1445=) c.4336A= (p.Met1446=) c.4282A= (p.Met1428=) c.4174A= (p.Met1392=) c.4207A= (p.Met1403=) c.4279A= (p.Met1427=) | |
| 3 | g.38556543G>A | CA433136145 | SCN5A | c.4332C>T (p.Tyr1444=) c.4335C>T (p.Tyr1445=) c.4281C>T (p.Tyr1427=) c.4173C>T (p.Tyr1391=) c.4206C>T (p.Tyr1402=) c.4278C>T (p.Tyr1426=) | |
| 3 | g.38556543G>C | CA352145451 | SCN5A | c.4332C>G (p.Tyr1444Ter) c.4335C>G (p.Tyr1445Ter) c.4281C>G (p.Tyr1427Ter) c.4173C>G (p.Tyr1391Ter) c.4206C>G (p.Tyr1402Ter) c.4278C>G (p.Tyr1426Ter) | |
| 3 | g.38556543G>T | CA352145450 | SCN5A | c.4332C>A (p.Tyr1444Ter) c.4335C>A (p.Tyr1445Ter) c.4281C>A (p.Tyr1427Ter) c.4173C>A (p.Tyr1391Ter) c.4206C>A (p.Tyr1402Ter) c.4278C>A (p.Tyr1426Ter) | |
| 3 | g.38556544T>A | CA352145452 | SCN5A | c.4331A>T (p.Tyr1444Phe) c.4334A>T (p.Tyr1445Phe) c.4280A>T (p.Tyr1427Phe) c.4172A>T (p.Tyr1391Phe) c.4205A>T (p.Tyr1402Phe) c.4277A>T (p.Tyr1426Phe) | |
| 3 | g.38556544T>C | CA352145454 | SCN5A | c.4331A>G (p.Tyr1444Cys) c.4334A>G (p.Tyr1445Cys) c.4280A>G (p.Tyr1427Cys) c.4172A>G (p.Tyr1391Cys) c.4205A>G (p.Tyr1402Cys) c.4277A>G (p.Tyr1426Cys) | gnomAD v4 |
| 3 | g.38556544T>G | CA352145453 | SCN5A | c.4331A>C (p.Tyr1444Ser) c.4334A>C (p.Tyr1445Ser) c.4280A>C (p.Tyr1427Ser) c.4172A>C (p.Tyr1391Ser) c.4205A>C (p.Tyr1402Ser) c.4277A>C (p.Tyr1426Ser) | gnomAD v4 |
| 3 | g.38556545A= | CA1358563519 | SCN5A | c.4330T= (p.Tyr1444=) c.4333T= (p.Tyr1445=) c.4279T= (p.Tyr1427=) c.4171T= (p.Tyr1391=) c.4204T= (p.Tyr1402=) c.4276T= (p.Tyr1426=) | |
| 3 | g.38556545A>C | CA352145455 | SCN5A | c.4330T>G (p.Tyr1444Asp) c.4333T>G (p.Tyr1445Asp) c.4279T>G (p.Tyr1427Asp) c.4171T>G (p.Tyr1391Asp) c.4204T>G (p.Tyr1402Asp) c.4276T>G (p.Tyr1426Asp) | |
| 3 | g.38556545A>G | CA063134 | SCN5A | c.4330T>C (p.Tyr1444His) c.4333T>C (p.Tyr1445His) c.4279T>C (p.Tyr1427His) c.4171T>C (p.Tyr1391His) c.4204T>C (p.Tyr1402His) c.4276T>C (p.Tyr1426His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556545A>T | CA352145456 | SCN5A | c.4330T>A (p.Tyr1444Asn) c.4333T>A (p.Tyr1445Asn) c.4279T>A (p.Tyr1427Asn) c.4171T>A (p.Tyr1391Asn) c.4204T>A (p.Tyr1402Asn) c.4276T>A (p.Tyr1426Asn) | |
| 3 | g.38556546G>A | CA433136146 | SCN5A | c.4329C>T (p.Leu1443=) c.4332C>T (p.Leu1444=) c.4278C>T (p.Leu1426=) c.4170C>T (p.Leu1390=) c.4203C>T (p.Leu1401=) c.4275C>T (p.Leu1425=) | |
| 3 | g.38556546G>C | CA433136147 | SCN5A | c.4329C>G (p.Leu1443=) c.4332C>G (p.Leu1444=) c.4278C>G (p.Leu1426=) c.4170C>G (p.Leu1390=) c.4203C>G (p.Leu1401=) c.4275C>G (p.Leu1425=) | |
| 3 | g.38556546G>T | CA433136149 | SCN5A | c.4329C>A (p.Leu1443=) c.4332C>A (p.Leu1444=) c.4278C>A (p.Leu1426=) c.4170C>A (p.Leu1390=) c.4203C>A (p.Leu1401=) c.4275C>A (p.Leu1425=) | |
| 3 | g.38556547A>C | CA352145457 | SCN5A | c.4328T>G (p.Leu1443Arg) c.4331T>G (p.Leu1444Arg) c.4277T>G (p.Leu1426Arg) c.4169T>G (p.Leu1390Arg) c.4202T>G (p.Leu1401Arg) c.4274T>G (p.Leu1425Arg) | ClinVar |
| 3 | g.38556547A>G | CA352145458 | SCN5A | c.4328T>C (p.Leu1443Pro) c.4331T>C (p.Leu1444Pro) c.4277T>C (p.Leu1426Pro) c.4169T>C (p.Leu1390Pro) c.4202T>C (p.Leu1401Pro) c.4274T>C (p.Leu1425Pro) | ClinVar |
| 3 | g.38556547A>T | CA352145459 | SCN5A | c.4328T>A (p.Leu1443His) c.4331T>A (p.Leu1444His) c.4277T>A (p.Leu1426His) c.4169T>A (p.Leu1390His) c.4202T>A (p.Leu1401His) c.4274T>A (p.Leu1425His) | |
| 3 | g.38556548G>A | CA352145460 | SCN5A | c.4327C>T (p.Leu1443Phe) c.4330C>T (p.Leu1444Phe) c.4276C>T (p.Leu1426Phe) c.4168C>T (p.Leu1390Phe) c.4201C>T (p.Leu1401Phe) c.4273C>T (p.Leu1425Phe) | |
| 3 | g.38556548G>C | CA352145461 | SCN5A | c.4327C>G (p.Leu1443Val) c.4330C>G (p.Leu1444Val) c.4276C>G (p.Leu1426Val) c.4168C>G (p.Leu1390Val) c.4201C>G (p.Leu1401Val) c.4273C>G (p.Leu1425Val) | |
| 3 | g.38556548G= | CA1358563521 | SCN5A | c.4327C= (p.Leu1443=) c.4330C= (p.Leu1444=) c.4276C= (p.Leu1426=) c.4168C= (p.Leu1390=) c.4201C= (p.Leu1401=) c.4273C= (p.Leu1425=) | |
| 3 | g.38556548G>T | CA352145462 | SCN5A | c.4327C>A (p.Leu1443Ile) c.4330C>A (p.Leu1444Ile) c.4276C>A (p.Leu1426Ile) c.4168C>A (p.Leu1390Ile) c.4201C>A (p.Leu1401Ile) c.4273C>A (p.Leu1425Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556549G>A | CA433136152 | SCN5A | c.4326C>T (p.Asn1442=) c.4329C>T (p.Asn1443=) c.4275C>T (p.Asn1425=) c.4167C>T (p.Asn1389=) c.4200C>T (p.Asn1400=) c.4272C>T (p.Asn1424=) | ClinVar dbSNP |
| 3 | g.38556549G>C | CA352145463 | SCN5A | c.4326C>G (p.Asn1442Lys) c.4329C>G (p.Asn1443Lys) c.4275C>G (p.Asn1425Lys) c.4167C>G (p.Asn1389Lys) c.4200C>G (p.Asn1400Lys) c.4272C>G (p.Asn1424Lys) | |
| 3 | g.38556549G= | CA1358563525 | SCN5A | c.4326C= (p.Asn1442=) c.4329C= (p.Asn1443=) c.4275C= (p.Asn1425=) c.4167C= (p.Asn1389=) c.4200C= (p.Asn1400=) c.4272C= (p.Asn1424=) | |
| 3 | g.38556549G>T | CA352145464 | SCN5A | c.4326C>A (p.Asn1442Lys) c.4329C>A (p.Asn1443Lys) c.4275C>A (p.Asn1425Lys) c.4167C>A (p.Asn1389Lys) c.4200C>A (p.Asn1400Lys) c.4272C>A (p.Asn1424Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556550T>A | CA352145465 | SCN5A | c.4325A>T (p.Asn1442Ile) c.4328A>T (p.Asn1443Ile) c.4274A>T (p.Asn1425Ile) c.4166A>T (p.Asn1389Ile) c.4199A>T (p.Asn1400Ile) c.4271A>T (p.Asn1424Ile) | |
| 3 | g.38556550T>C | CA352145466 | SCN5A | c.4325A>G (p.Asn1442Ser) c.4328A>G (p.Asn1443Ser) c.4274A>G (p.Asn1425Ser) c.4166A>G (p.Asn1389Ser) c.4199A>G (p.Asn1400Ser) c.4271A>G (p.Asn1424Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556550T>G | CA352145467 | SCN5A | c.4325A>C (p.Asn1442Thr) c.4328A>C (p.Asn1443Thr) c.4274A>C (p.Asn1425Thr) c.4166A>C (p.Asn1389Thr) c.4199A>C (p.Asn1400Thr) c.4271A>C (p.Asn1424Thr) | ClinVar |
| 3 | g.38556550T= | CA1358563529 | SCN5A | c.4325A= (p.Asn1442=) c.4328A= (p.Asn1443=) c.4274A= (p.Asn1425=) c.4166A= (p.Asn1389=) c.4199A= (p.Asn1400=) c.4271A= (p.Asn1424=) | |
| 3 | g.38556551del | CA2697550803 | SCN5A | c.4325del (p.Asn1442ThrfsTer20) c.4328del (p.Asn1443ThrfsTer20) c.4274del (p.Asn1425ThrfsTer20) c.4166del (p.Asn1389ThrfsTer20) c.4199del (p.Asn1400ThrfsTer20) c.4271del (p.Asn1424ThrfsTer20) | ClinVar |
| 3 | g.38556551T>A | CA352145470 | SCN5A | c.4324A>T (p.Asn1442Tyr) c.4327A>T (p.Asn1443Tyr) c.4273A>T (p.Asn1425Tyr) c.4165A>T (p.Asn1389Tyr) c.4198A>T (p.Asn1400Tyr) c.4270A>T (p.Asn1424Tyr) | |
| 3 | g.38556551T>C | CA352145468 | SCN5A | c.4324A>G (p.Asn1442Asp) c.4327A>G (p.Asn1443Asp) c.4273A>G (p.Asn1425Asp) c.4165A>G (p.Asn1389Asp) c.4198A>G (p.Asn1400Asp) c.4270A>G (p.Asn1424Asp) | |
| 3 | g.38556551T>G | CA352145469 | SCN5A | c.4324A>C (p.Asn1442His) c.4327A>C (p.Asn1443His) c.4273A>C (p.Asn1425His) c.4165A>C (p.Asn1389His) c.4198A>C (p.Asn1400His) c.4270A>C (p.Asn1424His) | |
| 3 | g.38556552G>A | CA433136156 | SCN5A | c.4323C>T (p.Tyr1441=) c.4326C>T (p.Tyr1442=) c.4272C>T (p.Tyr1424=) c.4164C>T (p.Tyr1388=) c.4197C>T (p.Tyr1399=) c.4269C>T (p.Tyr1423=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556552G>C | CA352145471 | SCN5A | c.4323C>G (p.Tyr1441Ter) c.4326C>G (p.Tyr1442Ter) c.4272C>G (p.Tyr1424Ter) c.4164C>G (p.Tyr1388Ter) c.4197C>G (p.Tyr1399Ter) c.4269C>G (p.Tyr1423Ter) | |
| 3 | g.38556552G= | CA1358563534 | SCN5A | c.4323C= (p.Tyr1441=) c.4326C= (p.Tyr1442=) c.4272C= (p.Tyr1424=) c.4164C= (p.Tyr1388=) c.4197C= (p.Tyr1399=) c.4269C= (p.Tyr1423=) | |
| 3 | g.38556552G>T | CA352145472 | SCN5A | c.4323C>A (p.Tyr1441Ter) c.4326C>A (p.Tyr1442Ter) c.4272C>A (p.Tyr1424Ter) c.4164C>A (p.Tyr1388Ter) c.4197C>A (p.Tyr1399Ter) c.4269C>A (p.Tyr1423Ter) | |
| 3 | g.38556553T>A | CA352145473 | SCN5A | c.4322A>T (p.Tyr1441Phe) c.4325A>T (p.Tyr1442Phe) c.4271A>T (p.Tyr1424Phe) c.4163A>T (p.Tyr1388Phe) c.4196A>T (p.Tyr1399Phe) c.4268A>T (p.Tyr1423Phe) | |
| 3 | g.38556553T>C | CA063128 | SCN5A | c.4322A>G (p.Tyr1441Cys) c.4325A>G (p.Tyr1442Cys) c.4271A>G (p.Tyr1424Cys) c.4163A>G (p.Tyr1388Cys) c.4196A>G (p.Tyr1399Cys) c.4268A>G (p.Tyr1423Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556553T>G | CA352145474 | SCN5A | c.4322A>C (p.Tyr1441Ser) c.4325A>C (p.Tyr1442Ser) c.4271A>C (p.Tyr1424Ser) c.4163A>C (p.Tyr1388Ser) c.4196A>C (p.Tyr1399Ser) c.4268A>C (p.Tyr1423Ser) | |
| 3 | g.38556553T= | CA1358563539 | SCN5A | c.4322A= (p.Tyr1441=) c.4325A= (p.Tyr1442=) c.4271A= (p.Tyr1424=) c.4163A= (p.Tyr1388=) c.4196A= (p.Tyr1399=) c.4268A= (p.Tyr1423=) | |
| 3 | g.38556554A= | CA1358563542 | SCN5A | c.4321T= (p.Tyr1441=) c.4324T= (p.Tyr1442=) c.4270T= (p.Tyr1424=) c.4162T= (p.Tyr1388=) c.4195T= (p.Tyr1399=) c.4267T= (p.Tyr1423=) | |
| 3 | g.38556554A>C | CA72943351 | SCN5A | c.4321T>G (p.Tyr1441Asp) c.4324T>G (p.Tyr1442Asp) c.4270T>G (p.Tyr1424Asp) c.4162T>G (p.Tyr1388Asp) c.4195T>G (p.Tyr1399Asp) c.4267T>G (p.Tyr1423Asp) | dbSNP |
| 3 | g.38556554A>G | CA352145475 | SCN5A | c.4321T>C (p.Tyr1441His) c.4324T>C (p.Tyr1442His) c.4270T>C (p.Tyr1424His) c.4162T>C (p.Tyr1388His) c.4195T>C (p.Tyr1399His) c.4267T>C (p.Tyr1423His) | |
| 3 | g.38556554A>T | CA063121 | SCN5A | c.4321T>A (p.Tyr1441Asn) c.4324T>A (p.Tyr1442Asn) c.4270T>A (p.Tyr1424Asn) c.4162T>A (p.Tyr1388Asn) c.4195T>A (p.Tyr1399Asn) c.4267T>A (p.Tyr1423Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556555T>A | CA352145476 | SCN5A | c.4320A>T (p.Glu1440Asp) c.4323A>T (p.Glu1441Asp) c.4269A>T (p.Glu1423Asp) c.4161A>T (p.Glu1387Asp) c.4194A>T (p.Glu1398Asp) c.4266A>T (p.Glu1422Asp) | |
| 3 | g.38556555T>C | CA433136158 | SCN5A | c.4320A>G (p.Glu1440=) c.4323A>G (p.Glu1441=) c.4269A>G (p.Glu1423=) c.4161A>G (p.Glu1387=) c.4194A>G (p.Glu1398=) c.4266A>G (p.Glu1422=) | |
| 3 | g.38556555T>G | CA352145477 | SCN5A | c.4320A>C (p.Glu1440Asp) c.4323A>C (p.Glu1441Asp) c.4269A>C (p.Glu1423Asp) c.4161A>C (p.Glu1387Asp) c.4194A>C (p.Glu1398Asp) c.4266A>C (p.Glu1422Asp) | |
| 3 | g.38556556dup | CA2499216731 | SCN5A | c.4320dup (p.Tyr1441IlefsTer30) c.4323dup (p.Tyr1442IlefsTer30) c.4269dup (p.Tyr1424IlefsTer30) c.4161dup (p.Tyr1388IlefsTer30) c.4194dup (p.Tyr1399IlefsTer30) c.4266dup (p.Tyr1423IlefsTer30) | ClinVar dbSNP |
| 3 | g.38556556T>A | CA352145479 | SCN5A | c.4319A>T (p.Glu1440Val) c.4322A>T (p.Glu1441Val) c.4268A>T (p.Glu1423Val) c.4160A>T (p.Glu1387Val) c.4193A>T (p.Glu1398Val) c.4265A>T (p.Glu1422Val) | |
| 3 | g.38556556T>C | CA352145480 | SCN5A | c.4319A>G (p.Glu1440Gly) c.4322A>G (p.Glu1441Gly) c.4268A>G (p.Glu1423Gly) c.4160A>G (p.Glu1387Gly) c.4193A>G (p.Glu1398Gly) c.4265A>G (p.Glu1422Gly) | |
| 3 | g.38556556T>G | CA352145478 | SCN5A | c.4319A>C (p.Glu1440Ala) c.4322A>C (p.Glu1441Ala) c.4268A>C (p.Glu1423Ala) c.4160A>C (p.Glu1387Ala) c.4193A>C (p.Glu1398Ala) c.4265A>C (p.Glu1422Ala) | |
| 3 | g.38556556_38556557delinsTC | CA1358563545 | SCN5A | c.4318_4319delinsGA (p.Glu1440=) c.4321_4322delinsGA (p.Glu1441=) c.4267_4268delinsGA (p.Glu1423=) c.4159_4160delinsGA (p.Glu1387=) c.4192_4193delinsGA (p.Glu1398=) c.4264_4265delinsGA (p.Glu1422=) | |
| 3 | g.38556557C>A | CA352145481 | SCN5A | c.4318G>T (p.Glu1440Ter) c.4321G>T (p.Glu1441Ter) c.4267G>T (p.Glu1423Ter) c.4159G>T (p.Glu1387Ter) c.4192G>T (p.Glu1398Ter) c.4264G>T (p.Glu1422Ter) | dbSNP |
| 3 | g.38556557C= | CA1358563554 | SCN5A | c.4318G= (p.Glu1440=) c.4321G= (p.Glu1441=) c.4267G= (p.Glu1423=) c.4159G= (p.Glu1387=) c.4192G= (p.Glu1398=) c.4264G= (p.Glu1422=) | |
| 3 | g.38556557C>G | CA018141 | SCN5A | c.4318G>C (p.Glu1440Gln) c.4321G>C (p.Glu1441Gln) c.4267G>C (p.Glu1423Gln) c.4159G>C (p.Glu1387Gln) c.4192G>C (p.Glu1398Gln) c.4264G>C (p.Glu1422Gln) | ClinVar dbSNP |
| 3 | g.38556557C>T | CA352145482 | SCN5A | c.4318G>A (p.Glu1440Lys) c.4321G>A (p.Glu1441Lys) c.4267G>A (p.Glu1423Lys) c.4159G>A (p.Glu1387Lys) c.4192G>A (p.Glu1398Lys) c.4264G>A (p.Glu1422Lys) | |
| 3 | g.38556559dup | CA1358563553 | SCN5A | c.4318dup (p.Glu1440GlyfsTer?) c.4321dup (p.Glu1441GlyfsTer?) c.4267dup (p.Glu1423GlyfsTer?) c.4159dup (p.Glu1387GlyfsTer?) c.4192dup (p.Glu1398GlyfsTer?) c.4264dup (p.Glu1422GlyfsTer?) | dbSNP |
| 3 | g.38556559del | CA906898018 | SCN5A | c.4318del (p.Glu1440AsnfsTer22) c.4321del (p.Glu1441AsnfsTer22) c.4267del (p.Glu1423AsnfsTer22) c.4159del (p.Glu1387AsnfsTer22) c.4192del (p.Glu1398AsnfsTer22) c.4264del (p.Glu1422AsnfsTer22) | dbSNP |
| 3 | g.38556558C>A | CA352145483 | SCN5A | c.4317G>T (p.Trp1439Cys) c.4320G>T (p.Trp1440Cys) c.4266G>T (p.Trp1422Cys) c.4158G>T (p.Trp1386Cys) c.4191G>T (p.Trp1397Cys) c.4263G>T (p.Trp1421Cys) | |
| 3 | g.38556558C= | CA1358563559 | SCN5A | c.4317G= (p.Trp1439=) c.4320G= (p.Trp1440=) c.4266G= (p.Trp1422=) c.4158G= (p.Trp1386=) c.4191G= (p.Trp1397=) c.4263G= (p.Trp1421=) | |
| 3 | g.38556558C>G | CA352145484 | SCN5A | c.4317G>C (p.Trp1439Cys) c.4320G>C (p.Trp1440Cys) c.4266G>C (p.Trp1422Cys) c.4158G>C (p.Trp1386Cys) c.4191G>C (p.Trp1397Cys) c.4263G>C (p.Trp1421Cys) | |
| 3 | g.38556558C>T | CA352145485 | SCN5A | c.4317G>A (p.Trp1439Ter) c.4320G>A (p.Trp1440Ter) c.4266G>A (p.Trp1422Ter) c.4158G>A (p.Trp1386Ter) c.4191G>A (p.Trp1397Ter) c.4263G>A (p.Trp1421Ter) | dbSNP gnomAD v2 |
| 3 | g.38556559C>A | CA352145486 | SCN5A | c.4316G>T (p.Trp1439Leu) c.4319G>T (p.Trp1440Leu) c.4265G>T (p.Trp1422Leu) c.4157G>T (p.Trp1386Leu) c.4190G>T (p.Trp1397Leu) c.4262G>T (p.Trp1421Leu) | |
| 3 | g.38556559C>G | CA352145487 | SCN5A | c.4316G>C (p.Trp1439Ser) c.4319G>C (p.Trp1440Ser) c.4265G>C (p.Trp1422Ser) c.4157G>C (p.Trp1386Ser) c.4190G>C (p.Trp1397Ser) c.4262G>C (p.Trp1421Ser) | |
| 3 | g.38556559C>T | CA352145488 | SCN5A | c.4316G>A (p.Trp1439Ter) c.4319G>A (p.Trp1440Ter) c.4265G>A (p.Trp1422Ter) c.4157G>A (p.Trp1386Ter) c.4190G>A (p.Trp1397Ter) c.4262G>A (p.Trp1421Ter) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556560A= | CA1358563563 | SCN5A | c.4315T= (p.Trp1439=) c.4318T= (p.Trp1440=) c.4264T= (p.Trp1422=) c.4156T= (p.Trp1386=) c.4189T= (p.Trp1397=) c.4261T= (p.Trp1421=) | |
| 3 | g.38556560A>C | CA352145489 | SCN5A | c.4315T>G (p.Trp1439Gly) c.4318T>G (p.Trp1440Gly) c.4264T>G (p.Trp1422Gly) c.4156T>G (p.Trp1386Gly) c.4189T>G (p.Trp1397Gly) c.4261T>G (p.Trp1421Gly) | |
| 3 | g.38556560A>G | CA352145490 | SCN5A | c.4315T>C (p.Trp1439Arg) c.4318T>C (p.Trp1440Arg) c.4264T>C (p.Trp1422Arg) c.4156T>C (p.Trp1386Arg) c.4189T>C (p.Trp1397Arg) c.4261T>C (p.Trp1421Arg) | |
| 3 | g.38556560A>T | CA352145491 | SCN5A | c.4315T>A (p.Trp1439Arg) c.4318T>A (p.Trp1440Arg) c.4264T>A (p.Trp1422Arg) c.4156T>A (p.Trp1386Arg) c.4189T>A (p.Trp1397Arg) c.4261T>A (p.Trp1421Arg) | ClinVar dbSNP |
| 3 | g.38556561C>A | CA352145492 | SCN5A | c.4314G>T (p.Gln1438His) c.4317G>T (p.Gln1439His) c.4263G>T (p.Gln1421His) c.4155G>T (p.Gln1385His) c.4188G>T (p.Gln1396His) c.4260G>T (p.Gln1420His) | |
| 3 | g.38556561C= | CA1358563568 | SCN5A | c.4314G= (p.Gln1438=) c.4317G= (p.Gln1439=) c.4263G= (p.Gln1421=) c.4155G= (p.Gln1385=) c.4188G= (p.Gln1396=) c.4260G= (p.Gln1420=) | |
| 3 | g.38556561C>G | CA063115 | SCN5A | c.4314G>C (p.Gln1438His) c.4317G>C (p.Gln1439His) c.4263G>C (p.Gln1421His) c.4155G>C (p.Gln1385His) c.4188G>C (p.Gln1396His) c.4260G>C (p.Gln1420His) | dbSNP ExAC gnomAD v2 |
| 3 | g.38556561C>T | CA063111 | SCN5A | c.4314G>A (p.Gln1438=) c.4317G>A (p.Gln1439=) c.4263G>A (p.Gln1421=) c.4155G>A (p.Gln1385=) c.4188G>A (p.Gln1396=) c.4260G>A (p.Gln1420=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556562T>A | CA352145493 | SCN5A | c.4313A>T (p.Gln1438Leu) c.4316A>T (p.Gln1439Leu) c.4262A>T (p.Gln1421Leu) c.4154A>T (p.Gln1385Leu) c.4187A>T (p.Gln1396Leu) c.4259A>T (p.Gln1420Leu) | |
| 3 | g.38556562T>C | CA352145494 | SCN5A | c.4313A>G (p.Gln1438Arg) c.4316A>G (p.Gln1439Arg) c.4262A>G (p.Gln1421Arg) c.4154A>G (p.Gln1385Arg) c.4187A>G (p.Gln1396Arg) c.4259A>G (p.Gln1420Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556562T>G | CA352145495 | SCN5A | c.4313A>C (p.Gln1438Pro) c.4316A>C (p.Gln1439Pro) c.4262A>C (p.Gln1421Pro) c.4154A>C (p.Gln1385Pro) c.4187A>C (p.Gln1396Pro) c.4259A>C (p.Gln1420Pro) | |
| 3 | g.38556562T= | CA1358563572 | SCN5A | c.4313A= (p.Gln1438=) c.4316A= (p.Gln1439=) c.4262A= (p.Gln1421=) c.4154A= (p.Gln1385=) c.4187A= (p.Gln1396=) c.4259A= (p.Gln1420=) | |
| 3 | g.38556562dup | CA2499216732 | SCN5A | c.4313dup (p.Trp1439ValfsTer?) c.4316dup (p.Trp1440ValfsTer?) c.4262dup (p.Trp1422ValfsTer?) c.4154dup (p.Trp1386ValfsTer?) c.4187dup (p.Trp1397ValfsTer?) c.4259dup (p.Trp1421ValfsTer?) | ClinVar dbSNP |
| 3 | g.38556563G>A | CA352145496 | SCN5A | c.4312C>T (p.Gln1438Ter) c.4315C>T (p.Gln1439Ter) c.4261C>T (p.Gln1421Ter) c.4153C>T (p.Gln1385Ter) c.4186C>T (p.Gln1396Ter) c.4258C>T (p.Gln1420Ter) | dbSNP |
| 3 | g.38556563G>C | CA352145497 | SCN5A | c.4312C>G (p.Gln1438Glu) c.4315C>G (p.Gln1439Glu) c.4261C>G (p.Gln1421Glu) c.4153C>G (p.Gln1385Glu) c.4186C>G (p.Gln1396Glu) c.4258C>G (p.Gln1420Glu) | |
| 3 | g.38556563G= | CA1358563577 | SCN5A | c.4312C= (p.Gln1438=) c.4315C= (p.Gln1439=) c.4261C= (p.Gln1421=) c.4153C= (p.Gln1385=) c.4186C= (p.Gln1396=) c.4258C= (p.Gln1420=) | |
| 3 | g.38556563G>T | CA352145498 | SCN5A | c.4312C>A (p.Gln1438Lys) c.4315C>A (p.Gln1439Lys) c.4261C>A (p.Gln1421Lys) c.4153C>A (p.Gln1385Lys) c.4186C>A (p.Gln1396Lys) c.4258C>A (p.Gln1420Lys) | |
| 3 | g.38556564A>C | CA433136164 | SCN5A | c.4311T>G (p.Pro1437=) c.4314T>G (p.Pro1438=) c.4260T>G (p.Pro1420=) c.4152T>G (p.Pro1384=) c.4185T>G (p.Pro1395=) c.4257T>G (p.Pro1419=) | |
| 3 | g.38556564A>G | CA433136165 | SCN5A | c.4311T>C (p.Pro1437=) c.4314T>C (p.Pro1438=) c.4260T>C (p.Pro1420=) c.4152T>C (p.Pro1384=) c.4185T>C (p.Pro1395=) c.4257T>C (p.Pro1419=) | |
| 3 | g.38556564A>T | CA433136166 | SCN5A | c.4311T>A (p.Pro1437=) c.4314T>A (p.Pro1438=) c.4260T>A (p.Pro1420=) c.4152T>A (p.Pro1384=) c.4185T>A (p.Pro1395=) c.4257T>A (p.Pro1419=) | |
| 3 | g.38556564_38556565delinsAG | CA1358563580 | SCN5A | c.4310_4311delinsCT (p.Pro1437=) c.4313_4314delinsCT (p.Pro1438=) c.4259_4260delinsCT (p.Pro1420=) c.4151_4152delinsCT (p.Pro1384=) c.4184_4185delinsCT (p.Pro1395=) c.4256_4257delinsCT (p.Pro1419=) | |
| 3 | g.38556565G>A | CA018135 | SCN5A | c.4310C>T (p.Pro1437Leu) c.4313C>T (p.Pro1438Leu) c.4259C>T (p.Pro1420Leu) c.4151C>T (p.Pro1384Leu) c.4184C>T (p.Pro1395Leu) c.4256C>T (p.Pro1419Leu) | ClinVar dbSNP |
| 3 | g.38556565G>C | CA352145499 | SCN5A | c.4310C>G (p.Pro1437Arg) c.4313C>G (p.Pro1438Arg) c.4259C>G (p.Pro1420Arg) c.4151C>G (p.Pro1384Arg) c.4184C>G (p.Pro1395Arg) c.4256C>G (p.Pro1419Arg) | |
| 3 | g.38556565G= | CA1358563586 | SCN5A | c.4310C= (p.Pro1437=) c.4313C= (p.Pro1438=) c.4259C= (p.Pro1420=) c.4151C= (p.Pro1384=) c.4184C= (p.Pro1395=) c.4256C= (p.Pro1419=) | |
| 3 | g.38556565G>T | CA352145500 | SCN5A | c.4310C>A (p.Pro1437His) c.4313C>A (p.Pro1438His) c.4259C>A (p.Pro1420His) c.4151C>A (p.Pro1384His) c.4184C>A (p.Pro1395His) c.4256C>A (p.Pro1419His) | |
| 3 | g.38556566del | CA72943359 | SCN5A | c.4310del (p.Pro1437LeufsTer25) c.4313del (p.Pro1438LeufsTer25) c.4259del (p.Pro1420LeufsTer25) c.4151del (p.Pro1384LeufsTer25) c.4184del (p.Pro1395LeufsTer25) c.4256del (p.Pro1419LeufsTer25) | dbSNP |
| 3 | g.38556566G>A | CA352145501 | SCN5A | c.4309C>T (p.Pro1437Ser) c.4312C>T (p.Pro1438Ser) c.4258C>T (p.Pro1420Ser) c.4150C>T (p.Pro1384Ser) c.4183C>T (p.Pro1395Ser) c.4255C>T (p.Pro1419Ser) | ClinVar dbSNP |
| 3 | g.38556566G>C | CA352145502 | SCN5A | c.4309C>G (p.Pro1437Ala) c.4312C>G (p.Pro1438Ala) c.4258C>G (p.Pro1420Ala) c.4150C>G (p.Pro1384Ala) c.4183C>G (p.Pro1395Ala) c.4255C>G (p.Pro1419Ala) | |
| 3 | g.38556566G= | CA1358563590 | SCN5A | c.4309C= (p.Pro1437=) c.4312C= (p.Pro1438=) c.4258C= (p.Pro1420=) c.4150C= (p.Pro1384=) c.4183C= (p.Pro1395=) c.4255C= (p.Pro1419=) | |
| 3 | g.38556566G>T | CA352145503 | SCN5A | c.4309C>A (p.Pro1437Thr) c.4312C>A (p.Pro1438Thr) c.4258C>A (p.Pro1420Thr) c.4150C>A (p.Pro1384Thr) c.4183C>A (p.Pro1395Thr) c.4255C>A (p.Pro1419Thr) | |
| 3 | g.38556567C>A | CA352145505 | SCN5A | c.4308G>T (p.Gln1436His) c.4311G>T (p.Gln1437His) c.4257G>T (p.Gln1419His) c.4149G>T (p.Gln1383His) c.4182G>T (p.Gln1394His) c.4254G>T (p.Gln1418His) | |
| 3 | g.38556567C= | CA1358563594 | SCN5A | c.4308G= (p.Gln1436=) c.4311G= (p.Gln1437=) c.4257G= (p.Gln1419=) c.4149G= (p.Gln1383=) c.4182G= (p.Gln1394=) c.4254G= (p.Gln1418=) | |
| 3 | g.38556567C>G | CA352145504 | SCN5A | c.4308G>C (p.Gln1436His) c.4311G>C (p.Gln1437His) c.4257G>C (p.Gln1419His) c.4149G>C (p.Gln1383His) c.4182G>C (p.Gln1394His) c.4254G>C (p.Gln1418His) | |
| 3 | g.38556567C>T | CA433136169 | SCN5A | c.4308G>A (p.Gln1436=) c.4311G>A (p.Gln1437=) c.4257G>A (p.Gln1419=) c.4149G>A (p.Gln1383=) c.4182G>A (p.Gln1394=) c.4254G>A (p.Gln1418=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556568T>A | CA352145506 | SCN5A | c.4307A>T (p.Gln1436Leu) c.4310A>T (p.Gln1437Leu) c.4256A>T (p.Gln1419Leu) c.4148A>T (p.Gln1383Leu) c.4181A>T (p.Gln1394Leu) c.4253A>T (p.Gln1418Leu) | |
| 3 | g.38556568T>C | CA352145508 | SCN5A | c.4307A>G (p.Gln1436Arg) c.4310A>G (p.Gln1437Arg) c.4256A>G (p.Gln1419Arg) c.4148A>G (p.Gln1383Arg) c.4181A>G (p.Gln1394Arg) c.4253A>G (p.Gln1418Arg) | |
| 3 | g.38556568T>G | CA352145507 | SCN5A | c.4307A>C (p.Gln1436Pro) c.4310A>C (p.Gln1437Pro) c.4256A>C (p.Gln1419Pro) c.4148A>C (p.Gln1383Pro) c.4181A>C (p.Gln1394Pro) c.4253A>C (p.Gln1418Pro) | |
| 3 | g.38556569G>A | CA352145509 | SCN5A | c.4306C>T (p.Gln1436Ter) c.4309C>T (p.Gln1437Ter) c.4255C>T (p.Gln1419Ter) c.4147C>T (p.Gln1383Ter) c.4180C>T (p.Gln1394Ter) c.4252C>T (p.Gln1418Ter) | |
| 3 | g.38556569G>C | CA352145510 | SCN5A | c.4306C>G (p.Gln1436Glu) c.4309C>G (p.Gln1437Glu) c.4255C>G (p.Gln1419Glu) c.4147C>G (p.Gln1383Glu) c.4180C>G (p.Gln1394Glu) c.4252C>G (p.Gln1418Glu) | ClinVar dbSNP |
| 3 | g.38556569G= | CA1358563600 | SCN5A | c.4306C= (p.Gln1436=) c.4309C= (p.Gln1437=) c.4255C= (p.Gln1419=) c.4147C= (p.Gln1383=) c.4180C= (p.Gln1394=) c.4252C= (p.Gln1418=) | |
| 3 | g.38556569G>T | CA352145511 | SCN5A | c.4306C>A (p.Gln1436Lys) c.4309C>A (p.Gln1437Lys) c.4255C>A (p.Gln1419Lys) c.4147C>A (p.Gln1383Lys) c.4180C>A (p.Gln1394Lys) c.4252C>A (p.Gln1418Lys) | |
| 3 | g.38556570C>A | CA352145512 | SCN5A | c.4305G>T (p.Glu1435Asp) c.4308G>T (p.Glu1436Asp) c.4254G>T (p.Glu1418Asp) c.4146G>T (p.Glu1382Asp) c.4179G>T (p.Glu1393Asp) c.4251G>T (p.Glu1417Asp) | |
| 3 | g.38556570C= | CA1358563608 | SCN5A | c.4305G= (p.Glu1435=) c.4308G= (p.Glu1436=) c.4254G= (p.Glu1418=) c.4146G= (p.Glu1382=) c.4179G= (p.Glu1393=) c.4251G= (p.Glu1417=) | |
| 3 | g.38556570C>G | CA352145513 | SCN5A | c.4305G>C (p.Glu1435Asp) c.4308G>C (p.Glu1436Asp) c.4254G>C (p.Glu1418Asp) c.4146G>C (p.Glu1382Asp) c.4179G>C (p.Glu1393Asp) c.4251G>C (p.Glu1417Asp) | |
| 3 | g.38556570C>T | CA063106 | SCN5A | c.4305G>A (p.Glu1435=) c.4308G>A (p.Glu1436=) c.4254G>A (p.Glu1418=) c.4146G>A (p.Glu1382=) c.4179G>A (p.Glu1393=) c.4251G>A (p.Glu1417=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556571T>A | CA352145514 | SCN5A | c.4304A>T (p.Glu1435Val) c.4307A>T (p.Glu1436Val) c.4253A>T (p.Glu1418Val) c.4145A>T (p.Glu1382Val) c.4178A>T (p.Glu1393Val) c.4250A>T (p.Glu1417Val) | |
| 3 | g.38556571T>C | CA352145515 | SCN5A | c.4304A>G (p.Glu1435Gly) c.4307A>G (p.Glu1436Gly) c.4253A>G (p.Glu1418Gly) c.4145A>G (p.Glu1382Gly) c.4178A>G (p.Glu1393Gly) c.4250A>G (p.Glu1417Gly) | |
| 3 | g.38556571T>G | CA352145516 | SCN5A | c.4304A>C (p.Glu1435Ala) c.4307A>C (p.Glu1436Ala) c.4253A>C (p.Glu1418Ala) c.4145A>C (p.Glu1382Ala) c.4178A>C (p.Glu1393Ala) c.4250A>C (p.Glu1417Ala) | |
| 3 | g.38556572C>A | CA352145517 | SCN5A | c.4303G>T (p.Glu1435Ter) c.4306G>T (p.Glu1436Ter) c.4252G>T (p.Glu1418Ter) c.4144G>T (p.Glu1382Ter) c.4177G>T (p.Glu1393Ter) c.4249G>T (p.Glu1417Ter) | dbSNP |
| 3 | g.38556572C= | CA1358563614 | SCN5A | c.4303G= (p.Glu1435=) c.4306G= (p.Glu1436=) c.4252G= (p.Glu1418=) c.4144G= (p.Glu1382=) c.4177G= (p.Glu1393=) c.4249G= (p.Glu1417=) | |
| 3 | g.38556572C>G | CA352145518 | SCN5A | c.4303G>C (p.Glu1435Gln) c.4306G>C (p.Glu1436Gln) c.4252G>C (p.Glu1418Gln) c.4144G>C (p.Glu1382Gln) c.4177G>C (p.Glu1393Gln) c.4249G>C (p.Glu1417Gln) | |
| 3 | g.38556572C>T | CA352145519 | SCN5A | c.4303G>A (p.Glu1435Lys) c.4306G>A (p.Glu1436Lys) c.4252G>A (p.Glu1418Lys) c.4144G>A (p.Glu1382Lys) c.4177G>A (p.Glu1393Lys) c.4249G>A (p.Glu1417Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556573T>A | CA352145521 | SCN5A | c.4302A>T (p.Glu1434Asp) c.4305A>T (p.Glu1435Asp) c.4251A>T (p.Glu1417Asp) c.4143A>T (p.Glu1381Asp) c.4176A>T (p.Glu1392Asp) c.4248A>T (p.Glu1416Asp) | |
| 3 | g.38556573T>C | CA433136172 | SCN5A | c.4302A>G (p.Glu1434=) c.4305A>G (p.Glu1435=) c.4251A>G (p.Glu1417=) c.4143A>G (p.Glu1381=) c.4176A>G (p.Glu1392=) c.4248A>G (p.Glu1416=) | |
| 3 | g.38556573T>G | CA352145520 | SCN5A | c.4302A>C (p.Glu1434Asp) c.4305A>C (p.Glu1435Asp) c.4251A>C (p.Glu1417Asp) c.4143A>C (p.Glu1381Asp) c.4176A>C (p.Glu1392Asp) c.4248A>C (p.Glu1416Asp) | |
| 3 | g.38556574T>A | CA352145522 | SCN5A | c.4301A>T (p.Glu1434Val) c.4304A>T (p.Glu1435Val) c.4250A>T (p.Glu1417Val) c.4142A>T (p.Glu1381Val) c.4175A>T (p.Glu1392Val) c.4247A>T (p.Glu1416Val) | |
| 3 | g.38556574T>C | CA352145523 | SCN5A | c.4301A>G (p.Glu1434Gly) c.4304A>G (p.Glu1435Gly) c.4250A>G (p.Glu1417Gly) c.4142A>G (p.Glu1381Gly) c.4175A>G (p.Glu1392Gly) c.4247A>G (p.Glu1416Gly) | |
| 3 | g.38556574T>G | CA352145524 | SCN5A | c.4301A>C (p.Glu1434Ala) c.4304A>C (p.Glu1435Ala) c.4250A>C (p.Glu1417Ala) c.4142A>C (p.Glu1381Ala) c.4175A>C (p.Glu1392Ala) c.4247A>C (p.Glu1416Ala) | |
| 3 | g.38556575C>A | CA352145525 | SCN5A | c.4300G>T (p.Glu1434Ter) c.4303G>T (p.Glu1435Ter) c.4249G>T (p.Glu1417Ter) c.4141G>T (p.Glu1381Ter) c.4174G>T (p.Glu1392Ter) c.4246G>T (p.Glu1416Ter) | dbSNP |
| 3 | g.38556575C= | CA1358563619 | SCN5A | c.4300G= (p.Glu1434=) c.4303G= (p.Glu1435=) c.4249G= (p.Glu1417=) c.4141G= (p.Glu1381=) c.4174G= (p.Glu1392=) c.4246G= (p.Glu1416=) | |
| 3 | g.38556575C>G | CA352145526 | SCN5A | c.4300G>C (p.Glu1434Gln) c.4303G>C (p.Glu1435Gln) c.4249G>C (p.Glu1417Gln) c.4141G>C (p.Glu1381Gln) c.4174G>C (p.Glu1392Gln) c.4246G>C (p.Glu1416Gln) | |
| 3 | g.38556575C>T | CA352145527 | SCN5A | c.4300G>A (p.Glu1434Lys) c.4303G>A (p.Glu1435Lys) c.4249G>A (p.Glu1417Lys) c.4141G>A (p.Glu1381Lys) c.4174G>A (p.Glu1392Lys) c.4246G>A (p.Glu1416Lys) | |
| 3 | g.38556576A= | CA1358563622 | SCN5A | c.4299T= (p.Tyr1433=) c.4302T= (p.Tyr1434=) c.4248T= (p.Tyr1416=) c.4140T= (p.Tyr1380=) c.4173T= (p.Tyr1391=) c.4245T= (p.Tyr1415=) | |
| 3 | g.38556576A>C | CA352145528 | SCN5A | c.4299T>G (p.Tyr1433Ter) c.4302T>G (p.Tyr1434Ter) c.4248T>G (p.Tyr1416Ter) c.4140T>G (p.Tyr1380Ter) c.4173T>G (p.Tyr1391Ter) c.4245T>G (p.Tyr1415Ter) | |
| 3 | g.38556576A>G | CA018122 | SCN5A | c.4299T>C (p.Tyr1433=) c.4302T>C (p.Tyr1434=) c.4248T>C (p.Tyr1416=) c.4140T>C (p.Tyr1380=) c.4173T>C (p.Tyr1391=) c.4245T>C (p.Tyr1415=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556576A>T | CA352145529 | SCN5A | c.4299T>A (p.Tyr1433Ter) c.4302T>A (p.Tyr1434Ter) c.4248T>A (p.Tyr1416Ter) c.4140T>A (p.Tyr1380Ter) c.4173T>A (p.Tyr1391Ter) c.4245T>A (p.Tyr1415Ter) | |
| 3 | g.38556577T>A | CA352145530 | SCN5A | c.4298A>T (p.Tyr1433Phe) c.4301A>T (p.Tyr1434Phe) c.4247A>T (p.Tyr1416Phe) c.4139A>T (p.Tyr1380Phe) c.4172A>T (p.Tyr1391Phe) c.4244A>T (p.Tyr1415Phe) | |
| 3 | g.38556577T>C | CA352145531 | SCN5A | c.4298A>G (p.Tyr1433Cys) c.4301A>G (p.Tyr1434Cys) c.4247A>G (p.Tyr1416Cys) c.4139A>G (p.Tyr1380Cys) c.4172A>G (p.Tyr1391Cys) c.4244A>G (p.Tyr1415Cys) | |
| 3 | g.38556577T>G | CA352145532 | SCN5A | c.4298A>C (p.Tyr1433Ser) c.4301A>C (p.Tyr1434Ser) c.4247A>C (p.Tyr1416Ser) c.4139A>C (p.Tyr1380Ser) c.4172A>C (p.Tyr1391Ser) c.4244A>C (p.Tyr1415Ser) | |
| 3 | g.38556578A= | CA1358563627 | SCN5A | c.4297T= (p.Tyr1433=) c.4300T= (p.Tyr1434=) c.4246T= (p.Tyr1416=) c.4138T= (p.Tyr1380=) c.4171T= (p.Tyr1391=) c.4243T= (p.Tyr1415=) | |
| 3 | g.38556578A>C | CA72943370 | SCN5A | c.4297T>G (p.Tyr1433Asp) c.4300T>G (p.Tyr1434Asp) c.4246T>G (p.Tyr1416Asp) c.4138T>G (p.Tyr1380Asp) c.4171T>G (p.Tyr1391Asp) c.4243T>G (p.Tyr1415Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556578A>G | CA352145534 | SCN5A | c.4297T>C (p.Tyr1433His) c.4300T>C (p.Tyr1434His) c.4246T>C (p.Tyr1416His) c.4138T>C (p.Tyr1380His) c.4171T>C (p.Tyr1391His) c.4243T>C (p.Tyr1415His) | |
| 3 | g.38556578A>T | CA352145533 | SCN5A | c.4297T>A (p.Tyr1433Asn) c.4300T>A (p.Tyr1434Asn) c.4246T>A (p.Tyr1416Asn) c.4138T>A (p.Tyr1380Asn) c.4171T>A (p.Tyr1391Asn) c.4243T>A (p.Tyr1415Asn) | |
| 3 | g.38556579C>A | CA063079 | SCN5A | c.4297-1G>T (n.4297-1G>T) c.4300-1G>T (n.4300-1G>T) c.4246-1G>T (n.4246-1G>T) c.4138-1G>T (n.4138-1G>T) c.4171-1G>T (n.4171-1G>T) c.4243-1G>T (n.4243-1G>T) | dbSNP ExAC |
| 3 | g.38556579C= | CA1358563632 | SCN5A | c.4297-1G= (n.4297-1G=) c.4300-1G= (n.4300-1G=) c.4246-1G= (n.4246-1G=) c.4138-1G= (n.4138-1G=) c.4171-1G= (n.4171-1G=) c.4243-1G= (n.4243-1G=) | |
| 3 | g.38556579C>G | CA352145535 | SCN5A | c.4297-1G>C (n.4297-1G>C) c.4300-1G>C (n.4300-1G>C) c.4246-1G>C (n.4246-1G>C) c.4138-1G>C (n.4138-1G>C) c.4171-1G>C (n.4171-1G>C) c.4243-1G>C (n.4243-1G>C) | |
| 3 | g.38556579C>T | CA352145536 | SCN5A | c.4297-1G>A (n.4297-1G>A) c.4300-1G>A (n.4300-1G>A) c.4246-1G>A (n.4246-1G>A) c.4138-1G>A (n.4138-1G>A) c.4171-1G>A (n.4171-1G>A) c.4243-1G>A (n.4243-1G>A) | ClinVar gnomAD v4 |
| 3 | g.38556579_38556580insCCCCTGGAGTCCACAGCTGCATACATAATGTCCATCCAGCCTTTAAATGTTGCCACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGT | CA2665110975 | SCN5A | c.4297-2_4297-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4297-2_4297-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4300-2_4300-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4300-2_4300-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4246-2_4246-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4246-2_4246-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4138-2_4138-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4138-2_4138-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4171-2_4171-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4171-2_4171-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4243-2_4243-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4243-2_4243-1insACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTGGCAACATTTAAAGGCTGGATGGACATTATGTATGCAGCTGTGGACTCCAGGGG) | gnomAD v4 |
| 3 | g.38556580T>A | CA352145537 | SCN5A | c.4297-2A>T (n.4297-2A>T) c.4300-2A>T (n.4300-2A>T) c.4246-2A>T (n.4246-2A>T) c.4138-2A>T (n.4138-2A>T) c.4171-2A>T (n.4171-2A>T) c.4243-2A>T (n.4243-2A>T) | |
| 3 | g.38556580T>C | CA352145538 | SCN5A | c.4297-2A>G (n.4297-2A>G) c.4300-2A>G (n.4300-2A>G) c.4246-2A>G (n.4246-2A>G) c.4138-2A>G (n.4138-2A>G) c.4171-2A>G (n.4171-2A>G) c.4243-2A>G (n.4243-2A>G) | dbSNP |
| 3 | g.38556580T>G | CA352145539 | SCN5A | c.4297-2A>C (n.4297-2A>C) c.4300-2A>C (n.4300-2A>C) c.4246-2A>C (n.4246-2A>C) c.4138-2A>C (n.4138-2A>C) c.4171-2A>C (n.4171-2A>C) c.4243-2A>C (n.4243-2A>C) | gnomAD v4 |
| 3 | g.38556580T= | CA1358563636 | SCN5A | c.4297-2A= (n.4297-2A=) c.4300-2A= (n.4300-2A=) c.4246-2A= (n.4246-2A=) c.4138-2A= (n.4138-2A=) c.4171-2A= (n.4171-2A=) c.4243-2A= (n.4243-2A=) | |
| 3 | g.38556581G>A | CA1046992838 | SCN5A | c.4297-3C>T (n.4297-3C>T) c.4300-3C>T (n.4300-3C>T) c.4246-3C>T (n.4246-3C>T) c.4138-3C>T (n.4138-3C>T) c.4171-3C>T (n.4171-3C>T) c.4243-3C>T (n.4243-3C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38556581G= | CA1358563639 | SCN5A | c.4297-3C= (n.4297-3C=) c.4300-3C= (n.4300-3C=) c.4246-3C= (n.4246-3C=) c.4138-3C= (n.4138-3C=) c.4171-3C= (n.4171-3C=) c.4243-3C= (n.4243-3C=) | |
| 3 | g.38556581G>T | CA2665110976 | SCN5A | c.4297-3C>A (n.4297-3C>A) c.4300-3C>A (n.4300-3C>A) c.4246-3C>A (n.4246-3C>A) c.4138-3C>A (n.4138-3C>A) c.4171-3C>A (n.4171-3C>A) c.4243-3C>A (n.4243-3C>A) | gnomAD v4 |
| 3 | g.38556582C>A | CA2665110977 | SCN5A | c.4297-4G>T (n.4297-4G>T) c.4300-4G>T (n.4300-4G>T) c.4246-4G>T (n.4246-4G>T) c.4138-4G>T (n.4138-4G>T) c.4171-4G>T (n.4171-4G>T) c.4243-4G>T (n.4243-4G>T) | gnomAD v4 |
| 3 | g.38556583A= | CA1358563641 | SCN5A | c.4297-5T= (n.4297-5T=) c.4300-5T= (n.4300-5T=) c.4246-5T= (n.4246-5T=) c.4138-5T= (n.4138-5T=) c.4171-5T= (n.4171-5T=) c.4243-5T= (n.4243-5T=) | |
| 3 | g.38556583A>G | CA542270107 | SCN5A | c.4297-5T>C (n.4297-5T>C) c.4300-5T>C (n.4300-5T>C) c.4246-5T>C (n.4246-5T>C) c.4138-5T>C (n.4138-5T>C) c.4171-5T>C (n.4171-5T>C) c.4243-5T>C (n.4243-5T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556586G>A | CA72943374 | SCN5A | c.4297-8C>T (n.4297-8C>T) c.4300-8C>T (n.4300-8C>T) c.4246-8C>T (n.4246-8C>T) c.4138-8C>T (n.4138-8C>T) c.4171-8C>T (n.4171-8C>T) c.4243-8C>T (n.4243-8C>T) | dbSNP |
| 3 | g.38556586G= | CA1358563643 | SCN5A | c.4297-8C= (n.4297-8C=) c.4300-8C= (n.4300-8C=) c.4246-8C= (n.4246-8C=) c.4138-8C= (n.4138-8C=) c.4171-8C= (n.4171-8C=) c.4243-8C= (n.4243-8C=) | |
| 3 | g.38556587G>A | CA542270108 | SCN5A | c.4297-9C>T (n.4297-9C>T) c.4300-9C>T (n.4300-9C>T) c.4246-9C>T (n.4246-9C>T) c.4138-9C>T (n.4138-9C>T) c.4171-9C>T (n.4171-9C>T) c.4243-9C>T (n.4243-9C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556587G>C | CA913188104 | SCN5A | c.4297-9C>G (n.4297-9C>G) c.4300-9C>G (n.4300-9C>G) c.4246-9C>G (n.4246-9C>G) c.4138-9C>G (n.4138-9C>G) c.4171-9C>G (n.4171-9C>G) c.4243-9C>G (n.4243-9C>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38556587G= | CA1358563649 | SCN5A | c.4297-9C= (n.4297-9C=) c.4300-9C= (n.4300-9C=) c.4246-9C= (n.4246-9C=) c.4138-9C= (n.4138-9C=) c.4171-9C= (n.4171-9C=) c.4243-9C= (n.4243-9C=) | |
| 3 | g.38556589G>A | CA2665110978 | SCN5A | c.4297-11C>T (n.4297-11C>T) c.4300-11C>T (n.4300-11C>T) c.4246-11C>T (n.4246-11C>T) c.4138-11C>T (n.4138-11C>T) c.4171-11C>T (n.4171-11C>T) c.4243-11C>T (n.4243-11C>T) | gnomAD v4 |
| 3 | g.38556589G>C | CA913188106 | SCN5A | c.4297-11C>G (n.4297-11C>G) c.4300-11C>G (n.4300-11C>G) c.4246-11C>G (n.4246-11C>G) c.4138-11C>G (n.4138-11C>G) c.4171-11C>G (n.4171-11C>G) c.4243-11C>G (n.4243-11C>G) | ClinVar dbSNP |
| 3 | g.38556589G= | CA1358563654 | SCN5A | c.4297-11C= (n.4297-11C=) c.4300-11C= (n.4300-11C=) c.4246-11C= (n.4246-11C=) c.4138-11C= (n.4138-11C=) c.4171-11C= (n.4171-11C=) c.4243-11C= (n.4243-11C=) | |
| 3 | g.38556589G>T | CA2577553019 | SCN5A | c.4297-11C>A (n.4297-11C>A) c.4300-11C>A (n.4300-11C>A) c.4246-11C>A (n.4246-11C>A) c.4138-11C>A (n.4138-11C>A) c.4171-11C>A (n.4171-11C>A) c.4243-11C>A (n.4243-11C>A) | ClinVar gnomAD v4 |
| 3 | g.38556591A= | CA1358563657 | SCN5A | c.4297-13T= (n.4297-13T=) c.4300-13T= (n.4300-13T=) c.4246-13T= (n.4246-13T=) c.4138-13T= (n.4138-13T=) c.4171-13T= (n.4171-13T=) c.4243-13T= (n.4243-13T=) | |
| 3 | g.38556591A>G | CA063070 | SCN5A | c.4297-13T>C (n.4297-13T>C) c.4300-13T>C (n.4300-13T>C) c.4246-13T>C (n.4246-13T>C) c.4138-13T>C (n.4138-13T>C) c.4171-13T>C (n.4171-13T>C) c.4243-13T>C (n.4243-13T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38556592A= | CA1358563663 | SCN5A | c.4297-14T= (n.4297-14T=) c.4300-14T= (n.4300-14T=) c.4246-14T= (n.4246-14T=) c.4138-14T= (n.4138-14T=) c.4171-14T= (n.4171-14T=) c.4243-14T= (n.4243-14T=) | |
| 3 | g.38556592A>G | CA018116 | SCN5A | c.4297-14T>C (n.4297-14T>C) c.4300-14T>C (n.4300-14T>C) c.4246-14T>C (n.4246-14T>C) c.4138-14T>C (n.4138-14T>C) c.4171-14T>C (n.4171-14T>C) c.4243-14T>C (n.4243-14T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38556593T>C | CA2665110979 | SCN5A | c.4297-15A>G (n.4297-15A>G) c.4300-15A>G (n.4300-15A>G) c.4246-15A>G (n.4246-15A>G) c.4138-15A>G (n.4138-15A>G) c.4171-15A>G (n.4171-15A>G) c.4243-15A>G (n.4243-15A>G) | gnomAD v4 |
| 3 | g.38556595A>C | CA2665110980 | SCN5A | c.4297-17T>G (n.4297-17T>G) c.4300-17T>G (n.4300-17T>G) c.4246-17T>G (n.4246-17T>G) c.4138-17T>G (n.4138-17T>G) c.4171-17T>G (n.4171-17T>G) c.4243-17T>G (n.4243-17T>G) | gnomAD v4 |
| 3 | g.38556597A>G | CA2577553024 | SCN5A | c.4297-19T>C (n.4297-19T>C) c.4300-19T>C (n.4300-19T>C) c.4246-19T>C (n.4246-19T>C) c.4138-19T>C (n.4138-19T>C) c.4171-19T>C (n.4171-19T>C) c.4243-19T>C (n.4243-19T>C) | |
| 3 | g.38556598C>A | CA2665110981 | SCN5A | c.4297-20G>T (n.4297-20G>T) c.4300-20G>T (n.4300-20G>T) c.4246-20G>T (n.4246-20G>T) c.4138-20G>T (n.4138-20G>T) c.4171-20G>T (n.4171-20G>T) c.4243-20G>T (n.4243-20G>T) | gnomAD v4 |
| 3 | g.38556598C= | CA1358563665 | SCN5A | c.4297-20G= (n.4297-20G=) c.4300-20G= (n.4300-20G=) c.4246-20G= (n.4246-20G=) c.4138-20G= (n.4138-20G=) c.4171-20G= (n.4171-20G=) c.4243-20G= (n.4243-20G=) | |
| 3 | g.38556598C>G | CA2665110982 | SCN5A | c.4297-20G>C (n.4297-20G>C) c.4300-20G>C (n.4300-20G>C) c.4246-20G>C (n.4246-20G>C) c.4138-20G>C (n.4138-20G>C) c.4171-20G>C (n.4171-20G>C) c.4243-20G>C (n.4243-20G>C) | gnomAD v4 |
| 3 | g.38556598C>T | CA72943392 | SCN5A | c.4297-20G>A (n.4297-20G>A) c.4300-20G>A (n.4300-20G>A) c.4246-20G>A (n.4246-20G>A) c.4138-20G>A (n.4138-20G>A) c.4171-20G>A (n.4171-20G>A) c.4243-20G>A (n.4243-20G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556598_38556602delinsCAGGG | CA1358563667 | SCN5A | c.4297-24_4297-20delinsCCCTG (n.4297-24_4297-20delinsCCCTG) c.4300-24_4300-20delinsCCCTG (n.4300-24_4300-20delinsCCCTG) c.4246-24_4246-20delinsCCCTG (n.4246-24_4246-20delinsCCCTG) c.4138-24_4138-20delinsCCCTG (n.4138-24_4138-20delinsCCCTG) c.4171-24_4171-20delinsCCCTG (n.4171-24_4171-20delinsCCCTG) c.4243-24_4243-20delinsCCCTG (n.4243-24_4243-20delinsCCCTG) | |
| 3 | g.38556599A>G | CA2665110983 | SCN5A | c.4297-21T>C (n.4297-21T>C) c.4300-21T>C (n.4300-21T>C) c.4246-21T>C (n.4246-21T>C) c.4138-21T>C (n.4138-21T>C) c.4171-21T>C (n.4171-21T>C) c.4243-21T>C (n.4243-21T>C) | gnomAD v4 |
| 3 | g.38556599A>T | CA2665110984 | SCN5A | c.4297-21T>A (n.4297-21T>A) c.4300-21T>A (n.4300-21T>A) c.4246-21T>A (n.4246-21T>A) c.4138-21T>A (n.4138-21T>A) c.4171-21T>A (n.4171-21T>A) c.4243-21T>A (n.4243-21T>A) | gnomAD v4 |
| 3 | g.38556601_38556604del | CA542270109 | SCN5A | c.4297-24_4297-21del (n.4297-24_4297-21del) c.4300-24_4300-21del (n.4300-24_4300-21del) c.4246-24_4246-21del (n.4246-24_4246-21del) c.4138-24_4138-21del (n.4138-24_4138-21del) c.4171-24_4171-21del (n.4171-24_4171-21del) c.4243-24_4243-21del (n.4243-24_4243-21del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38556600G>C | CA2665110985 | SCN5A | c.4297-22C>G (n.4297-22C>G) c.4300-22C>G (n.4300-22C>G) c.4246-22C>G (n.4246-22C>G) c.4138-22C>G (n.4138-22C>G) c.4171-22C>G (n.4171-22C>G) c.4243-22C>G (n.4243-22C>G) | gnomAD v4 |
| 3 | g.38556600G>T | CA2665110986 | SCN5A | c.4297-22C>A (n.4297-22C>A) c.4300-22C>A (n.4300-22C>A) c.4246-22C>A (n.4246-22C>A) c.4138-22C>A (n.4138-22C>A) c.4171-22C>A (n.4171-22C>A) c.4243-22C>A (n.4243-22C>A) | gnomAD v4 |
| 3 | g.38556602G>A | CA2665110987 | SCN5A | c.4297-24C>T (n.4297-24C>T) c.4300-24C>T (n.4300-24C>T) c.4246-24C>T (n.4246-24C>T) c.4138-24C>T (n.4138-24C>T) c.4171-24C>T (n.4171-24C>T) c.4243-24C>T (n.4243-24C>T) | gnomAD v4 |
| 3 | g.38556602G= | CA1358563670 | SCN5A | c.4297-24C= (n.4297-24C=) c.4300-24C= (n.4300-24C=) c.4246-24C= (n.4246-24C=) c.4138-24C= (n.4138-24C=) c.4171-24C= (n.4171-24C=) c.4243-24C= (n.4243-24C=) | |
| 3 | g.38556602G>T | CA906898089 | SCN5A | c.4297-24C>A (n.4297-24C>A) c.4300-24C>A (n.4300-24C>A) c.4246-24C>A (n.4246-24C>A) c.4138-24C>A (n.4138-24C>A) c.4171-24C>A (n.4171-24C>A) c.4243-24C>A (n.4243-24C>A) | dbSNP gnomAD v3 gnomAD v4 |