| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38557235dup | CA915942427 | SCN5A | c.4296+1dup c.4299+1dup c.4246-652dup (n.4246-652dup) c.4137+1dup c.4170+1dup c.4243-652dup (n.4243-652dup) | ClinVar dbSNP |
| 3 | g.38557235del | CA542270126 | SCN5A | c.4296+1del c.4299+1del c.4246-652del (n.4246-652del) c.4137+1del c.4170+1del c.4243-652del (n.4243-652del) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38557232C>A | CA018099 | SCN5A | c.4295G>T (p.Gly1432Val) c.4298G>T (p.Gly1433Val) c.4246-654G>T (n.4246-654G>T) c.4136G>T (p.Gly1379Val) c.4169G>T (p.Gly1390Val) c.4243-654G>T (n.4243-654G>T) | ClinVar dbSNP |
| 3 | g.38557232C= | CA1358564124 | SCN5A | c.4295G= (p.Gly1432=) c.4298G= (p.Gly1433=) c.4246-654G= (n.4246-654G=) c.4136G= (p.Gly1379=) c.4169G= (p.Gly1390=) c.4243-654G= (n.4243-654G=) | |
| 3 | g.38557232C>G | CA352145546 | SCN5A | c.4295G>C (p.Gly1432Ala) c.4298G>C (p.Gly1433Ala) c.4246-654G>C (n.4246-654G>C) c.4136G>C (p.Gly1379Ala) c.4169G>C (p.Gly1390Ala) c.4243-654G>C (n.4243-654G>C) | gnomAD v4 |
| 3 | g.38557232C>T | CA72943604 | SCN5A | c.4295G>A (p.Gly1432Glu) c.4298G>A (p.Gly1433Glu) c.4246-654G>A (n.4246-654G>A) c.4136G>A (p.Gly1379Glu) c.4169G>A (p.Gly1390Glu) c.4243-654G>A (n.4243-654G>A) | dbSNP |
| 3 | g.38557232_38557262delinsCCCCTGGAGTCCACAGCTGCATACATAATGT | CA1358564125 | SCN5A | c.4265_4295delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1422=) c.4268_4298delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1423=) c.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4246-684_4246-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG) c.4106_4136delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1369=) c.4139_4169delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (p.Asp1380=) c.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG (n.4243-684_4243-654delinsACATTATGTATGCAGCTGTGGACTCCAGGGG) | |
| 3 | g.38557233C>A | CA352145547 | SCN5A | c.4294G>T (p.Gly1432Trp) c.4297G>T (p.Gly1433Trp) c.4246-655G>T (n.4246-655G>T) c.4135G>T (p.Gly1379Trp) c.4168G>T (p.Gly1390Trp) c.4243-655G>T (n.4243-655G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557233C= | CA1358564137 | SCN5A | c.4294G= (p.Gly1432=) c.4297G= (p.Gly1433=) c.4246-655G= (n.4246-655G=) c.4135G= (p.Gly1379=) c.4168G= (p.Gly1390=) c.4243-655G= (n.4243-655G=) | |
| 3 | g.38557233C>G | CA352145548 | SCN5A | c.4294G>C (p.Gly1432Arg) c.4297G>C (p.Gly1433Arg) c.4246-655G>C (n.4246-655G>C) c.4135G>C (p.Gly1379Arg) c.4168G>C (p.Gly1390Arg) c.4243-655G>C (n.4243-655G>C) | gnomAD v4 |
| 3 | g.38557233C>T | CA72943607 | SCN5A | c.4294G>A (p.Gly1432Arg) c.4297G>A (p.Gly1433Arg) c.4246-655G>A (n.4246-655G>A) c.4135G>A (p.Gly1379Arg) c.4168G>A (p.Gly1390Arg) c.4243-655G>A (n.4243-655G>A) | ClinVar dbSNP |
| 3 | g.38557235_38557264del | CA1358564135 | SCN5A | c.4265_4294del (p.Asp1422_Arg1431del) c.4268_4297del (p.Asp1423_Arg1432del) c.4246-684_4246-655del (n.4246-684_4246-655del) c.4106_4135del (p.Asp1369_Arg1378del) c.4139_4168del (p.Asp1380_Arg1389del) c.4243-684_4243-655del (n.4243-684_4243-655del) | ClinVar dbSNP |
| 3 | g.38557234C>A | CA352145549 | SCN5A | c.4293G>T (p.Arg1431Ser) c.4296G>T (p.Arg1432Ser) c.4246-656G>T (n.4246-656G>T) c.4134G>T (p.Arg1378Ser) c.4167G>T (p.Arg1389Ser) c.4243-656G>T (n.4243-656G>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557234C= | CA1358564142 | SCN5A | c.4293G= (p.Arg1431=) c.4296G= (p.Arg1432=) c.4246-656G= (n.4246-656G=) c.4134G= (p.Arg1378=) c.4167G= (p.Arg1389=) c.4243-656G= (n.4243-656G=) | |
| 3 | g.38557234C>G | CA018093 | SCN5A | c.4293G>C (p.Arg1431Ser) c.4296G>C (p.Arg1432Ser) c.4246-656G>C (n.4246-656G>C) c.4134G>C (p.Arg1378Ser) c.4167G>C (p.Arg1389Ser) c.4243-656G>C (n.4243-656G>C) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38557234C>T | CA063026 | SCN5A | c.4293G>A (p.Arg1431=) c.4296G>A (p.Arg1432=) c.4246-656G>A (n.4246-656G>A) c.4134G>A (p.Arg1378=) c.4167G>A (p.Arg1389=) c.4243-656G>A (n.4243-656G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557235C>A | CA352145550 | SCN5A | c.4292G>T (p.Arg1431Met) c.4295G>T (p.Arg1432Met) c.4246-657G>T (n.4246-657G>T) c.4133G>T (p.Arg1378Met) c.4166G>T (p.Arg1389Met) c.4243-657G>T (n.4243-657G>T) | |
| 3 | g.38557235C>G | CA352145551 | SCN5A | c.4292G>C (p.Arg1431Thr) c.4295G>C (p.Arg1432Thr) c.4246-657G>C (n.4246-657G>C) c.4133G>C (p.Arg1378Thr) c.4166G>C (p.Arg1389Thr) c.4243-657G>C (n.4243-657G>C) | gnomAD v4 |
| 3 | g.38557235C>T | CA352145552 | SCN5A | c.4292G>A (p.Arg1431Lys) c.4295G>A (p.Arg1432Lys) c.4246-657G>A (n.4246-657G>A) c.4133G>A (p.Arg1378Lys) c.4166G>A (p.Arg1389Lys) c.4243-657G>A (n.4243-657G>A) | |
| 3 | g.38557236del | CA2586965750 | SCN5A | c.4291del (p.Arg1431GlyfsTer?) c.4294del (p.Arg1432GlyfsTer?) c.4246-658del (n.4246-658del) c.4132del (p.Arg1378GlyfsTer?) c.4165del (p.Arg1389GlyfsTer?) c.4243-658del (n.4243-658del) | |
| 3 | g.38557236T>A | CA352145553 | SCN5A | c.4291A>T (p.Arg1431Trp) c.4294A>T (p.Arg1432Trp) c.4246-658A>T (n.4246-658A>T) c.4132A>T (p.Arg1378Trp) c.4165A>T (p.Arg1389Trp) c.4243-658A>T (n.4243-658A>T) | |
| 3 | g.38557236T>C | CA018087 | SCN5A | c.4291A>G (p.Arg1431Gly) c.4294A>G (p.Arg1432Gly) c.4246-658A>G (n.4246-658A>G) c.4132A>G (p.Arg1378Gly) c.4165A>G (p.Arg1389Gly) c.4243-658A>G (n.4243-658A>G) | ClinVar dbSNP |
| 3 | g.38557236T>G | CA433136199 | SCN5A | c.4291A>C (p.Arg1431=) c.4294A>C (p.Arg1432=) c.4246-658A>C (n.4246-658A>C) c.4132A>C (p.Arg1378=) c.4165A>C (p.Arg1389=) c.4243-658A>C (n.4243-658A>C) | ClinVar gnomAD v4 |
| 3 | g.38557236T= | CA1358564149 | SCN5A | c.4291A= (p.Arg1431=) c.4294A= (p.Arg1432=) c.4246-658A= (n.4246-658A=) c.4132A= (p.Arg1378=) c.4165A= (p.Arg1389=) c.4243-658A= (n.4243-658A=) | |
| 3 | g.38557237G>A | CA433136200 | SCN5A | c.4290C>T (p.Ser1430=) c.4293C>T (p.Ser1431=) c.4246-659C>T (n.4246-659C>T) c.4131C>T (p.Ser1377=) c.4164C>T (p.Ser1388=) c.4243-659C>T (n.4243-659C>T) | |
| 3 | g.38557237G>C | CA433136201 | SCN5A | c.4290C>G (p.Ser1430=) c.4293C>G (p.Ser1431=) c.4246-659C>G (n.4246-659C>G) c.4131C>G (p.Ser1377=) c.4164C>G (p.Ser1388=) c.4243-659C>G (n.4243-659C>G) | |
| 3 | g.38557237G>T | CA433136202 | SCN5A | c.4290C>A (p.Ser1430=) c.4293C>A (p.Ser1431=) c.4246-659C>A (n.4246-659C>A) c.4131C>A (p.Ser1377=) c.4164C>A (p.Ser1388=) c.4243-659C>A (n.4243-659C>A) | ClinVar |
| 3 | g.38557238G>A | CA352145554 | SCN5A | c.4289C>T (p.Ser1430Phe) c.4292C>T (p.Ser1431Phe) c.4246-660C>T (n.4246-660C>T) c.4130C>T (p.Ser1377Phe) c.4163C>T (p.Ser1388Phe) c.4243-660C>T (n.4243-660C>T) | COSMIC COSMIC COSMIC |
| 3 | g.38557238G>C | CA352145555 | SCN5A | c.4289C>G (p.Ser1430Cys) c.4292C>G (p.Ser1431Cys) c.4246-660C>G (n.4246-660C>G) c.4130C>G (p.Ser1377Cys) c.4163C>G (p.Ser1388Cys) c.4243-660C>G (n.4243-660C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557238G= | CA1358564155 | SCN5A | c.4289C= (p.Ser1430=) c.4292C= (p.Ser1431=) c.4246-660C= (n.4246-660C=) c.4130C= (p.Ser1377=) c.4163C= (p.Ser1388=) c.4243-660C= (n.4243-660C=) | |
| 3 | g.38557238G>T | CA352145556 | SCN5A | c.4289C>A (p.Ser1430Tyr) c.4292C>A (p.Ser1431Tyr) c.4246-660C>A (n.4246-660C>A) c.4130C>A (p.Ser1377Tyr) c.4163C>A (p.Ser1388Tyr) c.4243-660C>A (n.4243-660C>A) | |
| 3 | g.38557239A>C | CA352145557 | SCN5A | c.4288T>G (p.Ser1430Ala) c.4291T>G (p.Ser1431Ala) c.4246-661T>G (n.4246-661T>G) c.4129T>G (p.Ser1377Ala) c.4162T>G (p.Ser1388Ala) c.4243-661T>G (n.4243-661T>G) | |
| 3 | g.38557239A>G | CA352145558 | SCN5A | c.4288T>C (p.Ser1430Pro) c.4291T>C (p.Ser1431Pro) c.4246-661T>C (n.4246-661T>C) c.4129T>C (p.Ser1377Pro) c.4162T>C (p.Ser1388Pro) c.4243-661T>C (n.4243-661T>C) | |
| 3 | g.38557239A>T | CA352145559 | SCN5A | c.4288T>A (p.Ser1430Thr) c.4291T>A (p.Ser1431Thr) c.4246-661T>A (n.4246-661T>A) c.4129T>A (p.Ser1377Thr) c.4162T>A (p.Ser1388Thr) c.4243-661T>A (n.4243-661T>A) | |
| 3 | g.38557240G>A | CA433136203 | SCN5A | c.4287C>T (p.Asp1429=) c.4290C>T (p.Asp1430=) c.4246-662C>T (n.4246-662C>T) c.4128C>T (p.Asp1376=) c.4161C>T (p.Asp1387=) c.4243-662C>T (n.4243-662C>T) | |
| 3 | g.38557240G>C | CA352145560 | SCN5A | c.4287C>G (p.Asp1429Glu) c.4290C>G (p.Asp1430Glu) c.4246-662C>G (n.4246-662C>G) c.4128C>G (p.Asp1376Glu) c.4161C>G (p.Asp1387Glu) c.4243-662C>G (n.4243-662C>G) | |
| 3 | g.38557240G>T | CA352145561 | SCN5A | c.4287C>A (p.Asp1429Glu) c.4290C>A (p.Asp1430Glu) c.4246-662C>A (n.4246-662C>A) c.4128C>A (p.Asp1376Glu) c.4161C>A (p.Asp1387Glu) c.4243-662C>A (n.4243-662C>A) | COSMIC COSMIC COSMIC |
| 3 | g.38557241T>A | CA352145562 | SCN5A | c.4286A>T (p.Asp1429Val) c.4289A>T (p.Asp1430Val) c.4246-663A>T (n.4246-663A>T) c.4127A>T (p.Asp1376Val) c.4160A>T (p.Asp1387Val) c.4243-663A>T (n.4243-663A>T) | |
| 3 | g.38557241T>C | CA352145563 | SCN5A | c.4286A>G (p.Asp1429Gly) c.4289A>G (p.Asp1430Gly) c.4246-663A>G (n.4246-663A>G) c.4127A>G (p.Asp1376Gly) c.4160A>G (p.Asp1387Gly) c.4243-663A>G (n.4243-663A>G) | |
| 3 | g.38557241T>G | CA352145564 | SCN5A | c.4286A>C (p.Asp1429Ala) c.4289A>C (p.Asp1430Ala) c.4246-663A>C (n.4246-663A>C) c.4127A>C (p.Asp1376Ala) c.4160A>C (p.Asp1387Ala) c.4243-663A>C (n.4243-663A>C) | |
| 3 | g.38557242C>A | CA352145565 | SCN5A | c.4285G>T (p.Asp1429Tyr) c.4288G>T (p.Asp1430Tyr) c.4246-664G>T (n.4246-664G>T) c.4126G>T (p.Asp1376Tyr) c.4159G>T (p.Asp1387Tyr) c.4243-664G>T (n.4243-664G>T) | |
| 3 | g.38557242C>G | CA352145566 | SCN5A | c.4285G>C (p.Asp1429His) c.4288G>C (p.Asp1430His) c.4246-664G>C (n.4246-664G>C) c.4126G>C (p.Asp1376His) c.4159G>C (p.Asp1387His) c.4243-664G>C (n.4243-664G>C) | |
| 3 | g.38557242C>T | CA352145567 | SCN5A | c.4285G>A (p.Asp1429Asn) c.4288G>A (p.Asp1430Asn) c.4246-664G>A (n.4246-664G>A) c.4126G>A (p.Asp1376Asn) c.4159G>A (p.Asp1387Asn) c.4243-664G>A (n.4243-664G>A) | ClinVar |
| 3 | g.38557243C>A | CA433136204 | SCN5A | c.4284G>T (p.Val1428=) c.4287G>T (p.Val1429=) c.4246-665G>T (n.4246-665G>T) c.4125G>T (p.Val1375=) c.4158G>T (p.Val1386=) c.4243-665G>T (n.4243-665G>T) | |
| 3 | g.38557243C>G | CA433136205 | SCN5A | c.4284G>C (p.Val1428=) c.4287G>C (p.Val1429=) c.4246-665G>C (n.4246-665G>C) c.4125G>C (p.Val1375=) c.4158G>C (p.Val1386=) c.4243-665G>C (n.4243-665G>C) | |
| 3 | g.38557243C>T | CA433136206 | SCN5A | c.4284G>A (p.Val1428=) c.4287G>A (p.Val1429=) c.4246-665G>A (n.4246-665G>A) c.4125G>A (p.Val1375=) c.4158G>A (p.Val1386=) c.4243-665G>A (n.4243-665G>A) | ClinVar |
| 3 | g.38557244A>C | CA352145568 | SCN5A | c.4283T>G (p.Val1428Gly) c.4286T>G (p.Val1429Gly) c.4246-666T>G (n.4246-666T>G) c.4124T>G (p.Val1375Gly) c.4157T>G (p.Val1386Gly) c.4243-666T>G (n.4243-666T>G) | |
| 3 | g.38557244A>G | CA352145569 | SCN5A | c.4283T>C (p.Val1428Ala) c.4286T>C (p.Val1429Ala) c.4246-666T>C (n.4246-666T>C) c.4124T>C (p.Val1375Ala) c.4157T>C (p.Val1386Ala) c.4243-666T>C (n.4243-666T>C) | |
| 3 | g.38557244A>T | CA352145570 | SCN5A | c.4283T>A (p.Val1428Glu) c.4286T>A (p.Val1429Glu) c.4246-666T>A (n.4246-666T>A) c.4124T>A (p.Val1375Glu) c.4157T>A (p.Val1386Glu) c.4243-666T>A (n.4243-666T>A) | |
| 3 | g.38557245C>A | CA352145571 | SCN5A | c.4282G>T (p.Val1428Leu) c.4285G>T (p.Val1429Leu) c.4246-667G>T (n.4246-667G>T) c.4123G>T (p.Val1375Leu) c.4156G>T (p.Val1386Leu) c.4243-667G>T (n.4243-667G>T) | |
| 3 | g.38557245C>G | CA352145572 | SCN5A | c.4282G>C (p.Val1428Leu) c.4285G>C (p.Val1429Leu) c.4246-667G>C (n.4246-667G>C) c.4123G>C (p.Val1375Leu) c.4156G>C (p.Val1386Leu) c.4243-667G>C (n.4243-667G>C) | |
| 3 | g.38557245C>T | CA352145573 | SCN5A | c.4282G>A (p.Val1428Met) c.4285G>A (p.Val1429Met) c.4246-667G>A (n.4246-667G>A) c.4123G>A (p.Val1375Met) c.4156G>A (p.Val1386Met) c.4243-667G>A (n.4243-667G>A) | |
| 3 | g.38557246A>C | CA433136208 | SCN5A | c.4281T>G (p.Ala1427=) c.4284T>G (p.Ala1428=) c.4246-668T>G (n.4246-668T>G) c.4122T>G (p.Ala1374=) c.4155T>G (p.Ala1385=) c.4243-668T>G (n.4243-668T>G) | |
| 3 | g.38557246A>G | CA433136209 | SCN5A | c.4281T>C (p.Ala1427=) c.4284T>C (p.Ala1428=) c.4246-668T>C (n.4246-668T>C) c.4122T>C (p.Ala1374=) c.4155T>C (p.Ala1385=) c.4243-668T>C (n.4243-668T>C) | gnomAD v4 |
| 3 | g.38557246A>T | CA433136207 | SCN5A | c.4281T>A (p.Ala1427=) c.4284T>A (p.Ala1428=) c.4246-668T>A (n.4246-668T>A) c.4122T>A (p.Ala1374=) c.4155T>A (p.Ala1385=) c.4243-668T>A (n.4243-668T>A) | |
| 3 | g.38557247G>A | CA018079 | SCN5A | c.4280C>T (p.Ala1427Val) c.4283C>T (p.Ala1428Val) c.4246-669C>T (n.4246-669C>T) c.4121C>T (p.Ala1374Val) c.4154C>T (p.Ala1385Val) c.4243-669C>T (n.4243-669C>T) | ClinVar dbSNP |
| 3 | g.38557247G>C | CA352145574 | SCN5A | c.4280C>G (p.Ala1427Gly) c.4283C>G (p.Ala1428Gly) c.4246-669C>G (n.4246-669C>G) c.4121C>G (p.Ala1374Gly) c.4154C>G (p.Ala1385Gly) c.4243-669C>G (n.4243-669C>G) | |
| 3 | g.38557247G= | CA1358564157 | SCN5A | c.4280C= (p.Ala1427=) c.4283C= (p.Ala1428=) c.4246-669C= (n.4246-669C=) c.4121C= (p.Ala1374=) c.4154C= (p.Ala1385=) c.4243-669C= (n.4243-669C=) | |
| 3 | g.38557247G>T | CA352145575 | SCN5A | c.4280C>A (p.Ala1427Asp) c.4283C>A (p.Ala1428Asp) c.4246-669C>A (n.4246-669C>A) c.4121C>A (p.Ala1374Asp) c.4154C>A (p.Ala1385Asp) c.4243-669C>A (n.4243-669C>A) | |
| 3 | g.38557248C>A | CA018074 | SCN5A | c.4279G>T (p.Ala1427Ser) c.4282G>T (p.Ala1428Ser) c.4246-670G>T (n.4246-670G>T) c.4120G>T (p.Ala1374Ser) c.4153G>T (p.Ala1385Ser) c.4243-670G>T (n.4243-670G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557248C= | CA1358564159 | SCN5A | c.4279G= (p.Ala1427=) c.4282G= (p.Ala1428=) c.4246-670G= (n.4246-670G=) c.4120G= (p.Ala1374=) c.4153G= (p.Ala1385=) c.4243-670G= (n.4243-670G=) | |
| 3 | g.38557248C>G | CA352145576 | SCN5A | c.4279G>C (p.Ala1427Pro) c.4282G>C (p.Ala1428Pro) c.4246-670G>C (n.4246-670G>C) c.4120G>C (p.Ala1374Pro) c.4153G>C (p.Ala1385Pro) c.4243-670G>C (n.4243-670G>C) | |
| 3 | g.38557248C>T | CA352145577 | SCN5A | c.4279G>A (p.Ala1427Thr) c.4282G>A (p.Ala1428Thr) c.4246-670G>A (n.4246-670G>A) c.4120G>A (p.Ala1374Thr) c.4153G>A (p.Ala1385Thr) c.4243-670G>A (n.4243-670G>A) | |
| 3 | g.38557249T>A | CA433136212 | SCN5A | c.4278A>T (p.Ala1426=) c.4281A>T (p.Ala1427=) c.4246-671A>T (n.4246-671A>T) c.4119A>T (p.Ala1373=) c.4152A>T (p.Ala1384=) c.4243-671A>T (n.4243-671A>T) | |
| 3 | g.38557249T>C | CA433136211 | SCN5A | c.4278A>G (p.Ala1426=) c.4281A>G (p.Ala1427=) c.4246-671A>G (n.4246-671A>G) c.4119A>G (p.Ala1373=) c.4152A>G (p.Ala1384=) c.4243-671A>G (n.4243-671A>G) | |
| 3 | g.38557249T>G | CA433136210 | SCN5A | c.4278A>C (p.Ala1426=) c.4281A>C (p.Ala1427=) c.4246-671A>C (n.4246-671A>C) c.4119A>C (p.Ala1373=) c.4152A>C (p.Ala1384=) c.4243-671A>C (n.4243-671A>C) | |
| 3 | g.38557250G>A | CA352145578 | SCN5A | c.4277C>T (p.Ala1426Val) c.4280C>T (p.Ala1427Val) c.4246-672C>T (n.4246-672C>T) c.4118C>T (p.Ala1373Val) c.4151C>T (p.Ala1384Val) c.4243-672C>T (n.4243-672C>T) | |
| 3 | g.38557250G>C | CA352145579 | SCN5A | c.4277C>G (p.Ala1426Gly) c.4280C>G (p.Ala1427Gly) c.4246-672C>G (n.4246-672C>G) c.4118C>G (p.Ala1373Gly) c.4151C>G (p.Ala1384Gly) c.4243-672C>G (n.4243-672C>G) | |
| 3 | g.38557250G= | CA1358564160 | SCN5A | c.4277C= (p.Ala1426=) c.4280C= (p.Ala1427=) c.4246-672C= (n.4246-672C=) c.4118C= (p.Ala1373=) c.4151C= (p.Ala1384=) c.4243-672C= (n.4243-672C=) | |
| 3 | g.38557250G>T | CA352145580 | SCN5A | c.4277C>A (p.Ala1426Glu) c.4280C>A (p.Ala1427Glu) c.4246-672C>A (n.4246-672C>A) c.4118C>A (p.Ala1373Glu) c.4151C>A (p.Ala1384Glu) c.4243-672C>A (n.4243-672C>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557251C>A | CA018068 | SCN5A | c.4276G>T (p.Ala1426Ser) c.4279G>T (p.Ala1427Ser) c.4246-673G>T (n.4246-673G>T) c.4117G>T (p.Ala1373Ser) c.4150G>T (p.Ala1384Ser) c.4243-673G>T (n.4243-673G>T) | ClinVar dbSNP |
| 3 | g.38557251C= | CA1358564162 | SCN5A | c.4276G= (p.Ala1426=) c.4279G= (p.Ala1427=) c.4246-673G= (n.4246-673G=) c.4117G= (p.Ala1373=) c.4150G= (p.Ala1384=) c.4243-673G= (n.4243-673G=) | |
| 3 | g.38557251C>G | CA352145581 | SCN5A | c.4276G>C (p.Ala1426Pro) c.4279G>C (p.Ala1427Pro) c.4246-673G>C (n.4246-673G>C) c.4117G>C (p.Ala1373Pro) c.4150G>C (p.Ala1384Pro) c.4243-673G>C (n.4243-673G>C) | |
| 3 | g.38557251C>T | CA352145582 | SCN5A | c.4276G>A (p.Ala1426Thr) c.4279G>A (p.Ala1427Thr) c.4246-673G>A (n.4246-673G>A) c.4117G>A (p.Ala1373Thr) c.4150G>A (p.Ala1384Thr) c.4243-673G>A (n.4243-673G>A) | ClinVar |
| 3 | g.38557252A= | CA1358564172 | SCN5A | c.4275T= (p.Tyr1425=) c.4278T= (p.Tyr1426=) c.4246-674T= (n.4246-674T=) c.4116T= (p.Tyr1372=) c.4149T= (p.Tyr1383=) c.4243-674T= (n.4243-674T=) | |
| 3 | g.38557252A>C | CA352145583 | SCN5A | c.4275T>G (p.Tyr1425Ter) c.4278T>G (p.Tyr1426Ter) c.4246-674T>G (n.4246-674T>G) c.4116T>G (p.Tyr1372Ter) c.4149T>G (p.Tyr1383Ter) c.4243-674T>G (n.4243-674T>G) | |
| 3 | g.38557252A>G | CA433136213 | SCN5A | c.4275T>C (p.Tyr1425=) c.4278T>C (p.Tyr1426=) c.4246-674T>C (n.4246-674T>C) c.4116T>C (p.Tyr1372=) c.4149T>C (p.Tyr1383=) c.4243-674T>C (n.4243-674T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38557252A>T | CA352145584 | SCN5A | c.4275T>A (p.Tyr1425Ter) c.4278T>A (p.Tyr1426Ter) c.4246-674T>A (n.4246-674T>A) c.4116T>A (p.Tyr1372Ter) c.4149T>A (p.Tyr1383Ter) c.4243-674T>A (n.4243-674T>A) | |
| 3 | g.38557253T>A | CA352145585 | SCN5A | c.4274A>T (p.Tyr1425Phe) c.4277A>T (p.Tyr1426Phe) c.4246-675A>T (n.4246-675A>T) c.4115A>T (p.Tyr1372Phe) c.4148A>T (p.Tyr1383Phe) c.4243-675A>T (n.4243-675A>T) | |
| 3 | g.38557253T>C | CA352145586 | SCN5A | c.4274A>G (p.Tyr1425Cys) c.4277A>G (p.Tyr1426Cys) c.4246-675A>G (n.4246-675A>G) c.4115A>G (p.Tyr1372Cys) c.4148A>G (p.Tyr1383Cys) c.4243-675A>G (n.4243-675A>G) | ClinVar gnomAD v4 |
| 3 | g.38557253T>G | CA352145587 | SCN5A | c.4274A>C (p.Tyr1425Ser) c.4277A>C (p.Tyr1426Ser) c.4246-675A>C (n.4246-675A>C) c.4115A>C (p.Tyr1372Ser) c.4148A>C (p.Tyr1383Ser) c.4243-675A>C (n.4243-675A>C) | |
| 3 | g.38557254A>C | CA352145590 | SCN5A | c.4273T>G (p.Tyr1425Asp) c.4276T>G (p.Tyr1426Asp) c.4246-676T>G (n.4246-676T>G) c.4114T>G (p.Tyr1372Asp) c.4147T>G (p.Tyr1383Asp) c.4243-676T>G (n.4243-676T>G) | |
| 3 | g.38557254A>G | CA352145588 | SCN5A | c.4273T>C (p.Tyr1425His) c.4276T>C (p.Tyr1426His) c.4246-676T>C (n.4246-676T>C) c.4114T>C (p.Tyr1372His) c.4147T>C (p.Tyr1383His) c.4243-676T>C (n.4243-676T>C) | |
| 3 | g.38557254A>T | CA352145589 | SCN5A | c.4273T>A (p.Tyr1425Asn) c.4276T>A (p.Tyr1426Asn) c.4246-676T>A (n.4246-676T>A) c.4114T>A (p.Tyr1372Asn) c.4147T>A (p.Tyr1383Asn) c.4243-676T>A (n.4243-676T>A) | |
| 3 | g.38557255C>A | CA352145591 | SCN5A | c.4272G>T (p.Met1424Ile) c.4275G>T (p.Met1425Ile) c.4246-677G>T (n.4246-677G>T) c.4113G>T (p.Met1371Ile) c.4146G>T (p.Met1382Ile) c.4243-677G>T (n.4243-677G>T) | |
| 3 | g.38557255C= | CA1358564176 | SCN5A | c.4272G= (p.Met1424=) c.4275G= (p.Met1425=) c.4246-677G= (n.4246-677G=) c.4113G= (p.Met1371=) c.4146G= (p.Met1382=) c.4243-677G= (n.4243-677G=) | |
| 3 | g.38557255C>G | CA352145592 | SCN5A | c.4272G>C (p.Met1424Ile) c.4275G>C (p.Met1425Ile) c.4246-677G>C (n.4246-677G>C) c.4113G>C (p.Met1371Ile) c.4146G>C (p.Met1382Ile) c.4243-677G>C (n.4243-677G>C) | |
| 3 | g.38557255C>T | CA352145593 | SCN5A | c.4272G>A (p.Met1424Ile) c.4275G>A (p.Met1425Ile) c.4246-677G>A (n.4246-677G>A) c.4113G>A (p.Met1371Ile) c.4146G>A (p.Met1382Ile) c.4243-677G>A (n.4243-677G>A) | dbSNP gnomAD v4 |
| 3 | g.38557256A>C | CA352145594 | SCN5A | c.4271T>G (p.Met1424Arg) c.4274T>G (p.Met1425Arg) c.4246-678T>G (n.4246-678T>G) c.4112T>G (p.Met1371Arg) c.4145T>G (p.Met1382Arg) c.4243-678T>G (n.4243-678T>G) | |
| 3 | g.38557256A>G | CA352145595 | SCN5A | c.4271T>C (p.Met1424Thr) c.4274T>C (p.Met1425Thr) c.4246-678T>C (n.4246-678T>C) c.4112T>C (p.Met1371Thr) c.4145T>C (p.Met1382Thr) c.4243-678T>C (n.4243-678T>C) | gnomAD v4 |
| 3 | g.38557256A>T | CA352145596 | SCN5A | c.4271T>A (p.Met1424Lys) c.4274T>A (p.Met1425Lys) c.4246-678T>A (n.4246-678T>A) c.4112T>A (p.Met1371Lys) c.4145T>A (p.Met1382Lys) c.4243-678T>A (n.4243-678T>A) | ClinVar dbSNP |
| 3 | g.38557257T>A | CA352145597 | SCN5A | c.4270A>T (p.Met1424Leu) c.4273A>T (p.Met1425Leu) c.4246-679A>T (n.4246-679A>T) c.4111A>T (p.Met1371Leu) c.4144A>T (p.Met1382Leu) c.4243-679A>T (n.4243-679A>T) | |
| 3 | g.38557257T>C | CA352145598 | SCN5A | c.4270A>G (p.Met1424Val) c.4273A>G (p.Met1425Val) c.4246-679A>G (n.4246-679A>G) c.4111A>G (p.Met1371Val) c.4144A>G (p.Met1382Val) c.4243-679A>G (n.4243-679A>G) | gnomAD v4 |
| 3 | g.38557257T>G | CA352145599 | SCN5A | c.4270A>C (p.Met1424Leu) c.4273A>C (p.Met1425Leu) c.4246-679A>C (n.4246-679A>C) c.4111A>C (p.Met1371Leu) c.4144A>C (p.Met1382Leu) c.4243-679A>C (n.4243-679A>C) | gnomAD v4 |
| 3 | g.38557257dup | CA2697550804 | SCN5A | c.4270dup (p.Met1424AsnfsTer11) c.4273dup (p.Met1425AsnfsTer11) c.4246-679dup (n.4246-679dup) c.4111dup (p.Met1371AsnfsTer11) c.4144dup (p.Met1382AsnfsTer11) c.4243-679dup (n.4243-679dup) | ClinVar |
| 3 | g.38557258A>C | CA352145600 | SCN5A | c.4269T>G (p.Ile1423Met) c.4272T>G (p.Ile1424Met) c.4246-680T>G (n.4246-680T>G) c.4110T>G (p.Ile1370Met) c.4143T>G (p.Ile1381Met) c.4243-680T>G (n.4243-680T>G) | |
| 3 | g.38557258A>G | CA433136214 | SCN5A | c.4269T>C (p.Ile1423=) c.4272T>C (p.Ile1424=) c.4246-680T>C (n.4246-680T>C) c.4110T>C (p.Ile1370=) c.4143T>C (p.Ile1381=) c.4243-680T>C (n.4243-680T>C) | |
| 3 | g.38557258A>T | CA433136215 | SCN5A | c.4269T>A (p.Ile1423=) c.4272T>A (p.Ile1424=) c.4246-680T>A (n.4246-680T>A) c.4110T>A (p.Ile1370=) c.4143T>A (p.Ile1381=) c.4243-680T>A (n.4243-680T>A) | |
| 3 | g.38557259A>C | CA352145601 | SCN5A | c.4268T>G (p.Ile1423Ser) c.4271T>G (p.Ile1424Ser) c.4246-681T>G (n.4246-681T>G) c.4109T>G (p.Ile1370Ser) c.4142T>G (p.Ile1381Ser) c.4243-681T>G (n.4243-681T>G) | |
| 3 | g.38557259A>G | CA352145602 | SCN5A | c.4268T>C (p.Ile1423Thr) c.4271T>C (p.Ile1424Thr) c.4246-681T>C (n.4246-681T>C) c.4109T>C (p.Ile1370Thr) c.4142T>C (p.Ile1381Thr) c.4243-681T>C (n.4243-681T>C) | |
| 3 | g.38557259A>T | CA352145603 | SCN5A | c.4268T>A (p.Ile1423Asn) c.4271T>A (p.Ile1424Asn) c.4246-681T>A (n.4246-681T>A) c.4109T>A (p.Ile1370Asn) c.4142T>A (p.Ile1381Asn) c.4243-681T>A (n.4243-681T>A) | |
| 3 | g.38557260T>A | CA018062 | SCN5A | c.4267A>T (p.Ile1423Phe) c.4270A>T (p.Ile1424Phe) c.4246-682A>T (n.4246-682A>T) c.4108A>T (p.Ile1370Phe) c.4141A>T (p.Ile1381Phe) c.4243-682A>T (n.4243-682A>T) | ClinVar dbSNP |
| 3 | g.38557260T>C | CA063016 | SCN5A | c.4267A>G (p.Ile1423Val) c.4270A>G (p.Ile1424Val) c.4246-682A>G (n.4246-682A>G) c.4108A>G (p.Ile1370Val) c.4141A>G (p.Ile1381Val) c.4243-682A>G (n.4243-682A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557260T>G | CA352145604 | SCN5A | c.4267A>C (p.Ile1423Leu) c.4270A>C (p.Ile1424Leu) c.4246-682A>C (n.4246-682A>C) c.4108A>C (p.Ile1370Leu) c.4141A>C (p.Ile1381Leu) c.4243-682A>C (n.4243-682A>C) | |
| 3 | g.38557260T= | CA1358564179 | SCN5A | c.4267A= (p.Ile1423=) c.4270A= (p.Ile1424=) c.4246-682A= (n.4246-682A=) c.4108A= (p.Ile1370=) c.4141A= (p.Ile1381=) c.4243-682A= (n.4243-682A=) | |
| 3 | g.38557261G>A | CA063009 | SCN5A | c.4266C>T (p.Asp1422=) c.4269C>T (p.Asp1423=) c.4246-683C>T (n.4246-683C>T) c.4107C>T (p.Asp1369=) c.4140C>T (p.Asp1380=) c.4243-683C>T (n.4243-683C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557261G>C | CA352145605 | SCN5A | c.4266C>G (p.Asp1422Glu) c.4269C>G (p.Asp1423Glu) c.4246-683C>G (n.4246-683C>G) c.4107C>G (p.Asp1369Glu) c.4140C>G (p.Asp1380Glu) c.4243-683C>G (n.4243-683C>G) | |
| 3 | g.38557261G= | CA1358564181 | SCN5A | c.4266C= (p.Asp1422=) c.4269C= (p.Asp1423=) c.4246-683C= (n.4246-683C=) c.4107C= (p.Asp1369=) c.4140C= (p.Asp1380=) c.4243-683C= (n.4243-683C=) | |
| 3 | g.38557261G>T | CA352145606 | SCN5A | c.4266C>A (p.Asp1422Glu) c.4269C>A (p.Asp1423Glu) c.4246-683C>A (n.4246-683C>A) c.4107C>A (p.Asp1369Glu) c.4140C>A (p.Asp1380Glu) c.4243-683C>A (n.4243-683C>A) | ClinVar |
| 3 | g.38557262T>A | CA352145607 | SCN5A | c.4265A>T (p.Asp1422Val) c.4268A>T (p.Asp1423Val) c.4246-684A>T (n.4246-684A>T) c.4106A>T (p.Asp1369Val) c.4139A>T (p.Asp1380Val) c.4243-684A>T (n.4243-684A>T) | |
| 3 | g.38557262T>C | CA72943636 | SCN5A | c.4265A>G (p.Asp1422Gly) c.4268A>G (p.Asp1423Gly) c.4246-684A>G (n.4246-684A>G) c.4106A>G (p.Asp1369Gly) c.4139A>G (p.Asp1380Gly) c.4243-684A>G (n.4243-684A>G) | dbSNP |
| 3 | g.38557262T>G | CA352145608 | SCN5A | c.4265A>C (p.Asp1422Ala) c.4268A>C (p.Asp1423Ala) c.4246-684A>C (n.4246-684A>C) c.4106A>C (p.Asp1369Ala) c.4139A>C (p.Asp1380Ala) c.4243-684A>C (n.4243-684A>C) | |
| 3 | g.38557262T= | CA1358564182 | SCN5A | c.4265A= (p.Asp1422=) c.4268A= (p.Asp1423=) c.4246-684A= (n.4246-684A=) c.4106A= (p.Asp1369=) c.4139A= (p.Asp1380=) c.4243-684A= (n.4243-684A=) | |
| 3 | g.38557263C>A | CA352145609 | SCN5A | c.4264G>T (p.Asp1422Tyr) c.4267G>T (p.Asp1423Tyr) c.4246-685G>T (n.4246-685G>T) c.4105G>T (p.Asp1369Tyr) c.4138G>T (p.Asp1380Tyr) c.4243-685G>T (n.4243-685G>T) | |
| 3 | g.38557263C= | CA1358564183 | SCN5A | c.4264G= (p.Asp1422=) c.4267G= (p.Asp1423=) c.4246-685G= (n.4246-685G=) c.4105G= (p.Asp1369=) c.4138G= (p.Asp1380=) c.4243-685G= (n.4243-685G=) | |
| 3 | g.38557263C>G | CA063004 | SCN5A | c.4264G>C (p.Asp1422His) c.4267G>C (p.Asp1423His) c.4246-685G>C (n.4246-685G>C) c.4105G>C (p.Asp1369His) c.4138G>C (p.Asp1380His) c.4243-685G>C (n.4243-685G>C) | dbSNP ExAC gnomAD v2 |
| 3 | g.38557263C>T | CA088295 | SCN5A | c.4264G>A (p.Asp1422Asn) c.4267G>A (p.Asp1423Asn) c.4246-685G>A (n.4246-685G>A) c.4105G>A (p.Asp1369Asn) c.4138G>A (p.Asp1380Asn) c.4243-685G>A (n.4243-685G>A) | ClinVar dbSNP |
| 3 | g.38557264C>A | CA352145610 | SCN5A | c.4263G>T (p.Met1421Ile) c.4266G>T (p.Met1422Ile) c.4246-686G>T (n.4246-686G>T) c.4104G>T (p.Met1368Ile) c.4137G>T (p.Met1379Ile) c.4243-686G>T (n.4243-686G>T) | |
| 3 | g.38557264C>G | CA352145611 | SCN5A | c.4263G>C (p.Met1421Ile) c.4266G>C (p.Met1422Ile) c.4246-686G>C (n.4246-686G>C) c.4104G>C (p.Met1368Ile) c.4137G>C (p.Met1379Ile) c.4243-686G>C (n.4243-686G>C) | |
| 3 | g.38557264C>T | CA352145612 | SCN5A | c.4263G>A (p.Met1421Ile) c.4266G>A (p.Met1422Ile) c.4246-686G>A (n.4246-686G>A) c.4104G>A (p.Met1368Ile) c.4137G>A (p.Met1379Ile) c.4243-686G>A (n.4243-686G>A) | |
| 3 | g.38557265A= | CA1358564187 | SCN5A | c.4262T= (p.Met1421=) c.4265T= (p.Met1422=) c.4246-687T= (n.4246-687T=) c.4103T= (p.Met1368=) c.4136T= (p.Met1379=) c.4243-687T= (n.4243-687T=) | |
| 3 | g.38557265A>C | CA352145615 | SCN5A | c.4262T>G (p.Met1421Arg) c.4265T>G (p.Met1422Arg) c.4246-687T>G (n.4246-687T>G) c.4103T>G (p.Met1368Arg) c.4136T>G (p.Met1379Arg) c.4243-687T>G (n.4243-687T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557265A>G | CA352145614 | SCN5A | c.4262T>C (p.Met1421Thr) c.4265T>C (p.Met1422Thr) c.4246-687T>C (n.4246-687T>C) c.4103T>C (p.Met1368Thr) c.4136T>C (p.Met1379Thr) c.4243-687T>C (n.4243-687T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38557265A>T | CA352145613 | SCN5A | c.4262T>A (p.Met1421Lys) c.4265T>A (p.Met1422Lys) c.4246-687T>A (n.4246-687T>A) c.4103T>A (p.Met1368Lys) c.4136T>A (p.Met1379Lys) c.4243-687T>A (n.4243-687T>A) | |
| 3 | g.38557266T>A | CA352145616 | SCN5A | c.4261A>T (p.Met1421Leu) c.4264A>T (p.Met1422Leu) c.4246-688A>T (n.4246-688A>T) c.4102A>T (p.Met1368Leu) c.4135A>T (p.Met1379Leu) c.4243-688A>T (n.4243-688A>T) | |
| 3 | g.38557266T>C | CA352145617 | SCN5A | c.4261A>G (p.Met1421Val) c.4264A>G (p.Met1422Val) c.4246-688A>G (n.4246-688A>G) c.4102A>G (p.Met1368Val) c.4135A>G (p.Met1379Val) c.4243-688A>G (n.4243-688A>G) | gnomAD v4 |
| 3 | g.38557266T>G | CA352145618 | SCN5A | c.4261A>C (p.Met1421Leu) c.4264A>C (p.Met1422Leu) c.4246-688A>C (n.4246-688A>C) c.4102A>C (p.Met1368Leu) c.4135A>C (p.Met1379Leu) c.4243-688A>C (n.4243-688A>C) | |
| 3 | g.38557267C>A | CA352145619 | SCN5A | c.4260G>T (p.Trp1420Cys) c.4263G>T (p.Trp1421Cys) c.4246-689G>T (n.4246-689G>T) c.4101G>T (p.Trp1367Cys) c.4134G>T (p.Trp1378Cys) c.4243-689G>T (n.4243-689G>T) | |
| 3 | g.38557267C= | CA1358564191 | SCN5A | c.4260G= (p.Trp1420=) c.4263G= (p.Trp1421=) c.4246-689G= (n.4246-689G=) c.4101G= (p.Trp1367=) c.4134G= (p.Trp1378=) c.4243-689G= (n.4243-689G=) | |
| 3 | g.38557267C>G | CA352145620 | SCN5A | c.4260G>C (p.Trp1420Cys) c.4263G>C (p.Trp1421Cys) c.4246-689G>C (n.4246-689G>C) c.4101G>C (p.Trp1367Cys) c.4134G>C (p.Trp1378Cys) c.4243-689G>C (n.4243-689G>C) | |
| 3 | g.38557267C>T | CA352145621 | SCN5A | c.4260G>A (p.Trp1420Ter) c.4263G>A (p.Trp1421Ter) c.4246-689G>A (n.4246-689G>A) c.4101G>A (p.Trp1367Ter) c.4134G>A (p.Trp1378Ter) c.4243-689G>A (n.4243-689G>A) | dbSNP |
| 3 | g.38557268C>A | CA352145622 | SCN5A | c.4259G>T (p.Trp1420Leu) c.4262G>T (p.Trp1421Leu) c.4246-690G>T (n.4246-690G>T) c.4100G>T (p.Trp1367Leu) c.4133G>T (p.Trp1378Leu) c.4243-690G>T (n.4243-690G>T) | |
| 3 | g.38557268C= | CA1358564192 | SCN5A | c.4259G= (p.Trp1420=) c.4262G= (p.Trp1421=) c.4246-690G= (n.4246-690G=) c.4100G= (p.Trp1367=) c.4133G= (p.Trp1378=) c.4243-690G= (n.4243-690G=) | |
| 3 | g.38557268C>G | CA352145623 | SCN5A | c.4259G>C (p.Trp1420Ser) c.4262G>C (p.Trp1421Ser) c.4246-690G>C (n.4246-690G>C) c.4100G>C (p.Trp1367Ser) c.4133G>C (p.Trp1378Ser) c.4243-690G>C (n.4243-690G>C) | |
| 3 | g.38557268C>T | CA018056 | SCN5A | c.4259G>A (p.Trp1420Ter) c.4262G>A (p.Trp1421Ter) c.4246-690G>A (n.4246-690G>A) c.4100G>A (p.Trp1367Ter) c.4133G>A (p.Trp1378Ter) c.4243-690G>A (n.4243-690G>A) | ClinVar dbSNP |
| 3 | g.38557269A>C | CA352145624 | SCN5A | c.4258T>G (p.Trp1420Gly) c.4261T>G (p.Trp1421Gly) c.4246-691T>G (n.4246-691T>G) c.4099T>G (p.Trp1367Gly) c.4132T>G (p.Trp1378Gly) c.4243-691T>G (n.4243-691T>G) | |
| 3 | g.38557269A>G | CA352145625 | SCN5A | c.4258T>C (p.Trp1420Arg) c.4261T>C (p.Trp1421Arg) c.4246-691T>C (n.4246-691T>C) c.4099T>C (p.Trp1367Arg) c.4132T>C (p.Trp1378Arg) c.4243-691T>C (n.4243-691T>C) | ClinVar |
| 3 | g.38557269A>T | CA352145626 | SCN5A | c.4258T>A (p.Trp1420Arg) c.4261T>A (p.Trp1421Arg) c.4246-691T>A (n.4246-691T>A) c.4099T>A (p.Trp1367Arg) c.4132T>A (p.Trp1378Arg) c.4243-691T>A (n.4243-691T>A) | |
| 3 | g.38557270G>A | CA433136224 | SCN5A | c.4257C>T (p.Gly1419=) c.4260C>T (p.Gly1420=) c.4246-692C>T (n.4246-692C>T) c.4098C>T (p.Gly1366=) c.4131C>T (p.Gly1377=) c.4243-692C>T (n.4243-692C>T) | |
| 3 | g.38557270G>C | CA433136225 | SCN5A | c.4257C>G (p.Gly1419=) c.4260C>G (p.Gly1420=) c.4246-692C>G (n.4246-692C>G) c.4098C>G (p.Gly1366=) c.4131C>G (p.Gly1377=) c.4243-692C>G (n.4243-692C>G) | |
| 3 | g.38557270G>T | CA433136226 | SCN5A | c.4257C>A (p.Gly1419=) c.4260C>A (p.Gly1420=) c.4246-692C>A (n.4246-692C>A) c.4098C>A (p.Gly1366=) c.4131C>A (p.Gly1377=) c.4243-692C>A (n.4243-692C>A) | |
| 3 | g.38557271C>A | CA018048 | SCN5A | c.4256G>T (p.Gly1419Val) c.4259G>T (p.Gly1420Val) c.4246-693G>T (n.4246-693G>T) c.4097G>T (p.Gly1366Val) c.4130G>T (p.Gly1377Val) c.4243-693G>T (n.4243-693G>T) | ClinVar dbSNP |
| 3 | g.38557271C= | CA1358564193 | SCN5A | c.4256G= (p.Gly1419=) c.4259G= (p.Gly1420=) c.4246-693G= (n.4246-693G=) c.4097G= (p.Gly1366=) c.4130G= (p.Gly1377=) c.4243-693G= (n.4243-693G=) | |
| 3 | g.38557271C>G | CA352145628 | SCN5A | c.4256G>C (p.Gly1419Ala) c.4259G>C (p.Gly1420Ala) c.4246-693G>C (n.4246-693G>C) c.4097G>C (p.Gly1366Ala) c.4130G>C (p.Gly1377Ala) c.4243-693G>C (n.4243-693G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38557271C>T | CA352145627 | SCN5A | c.4256G>A (p.Gly1419Asp) c.4259G>A (p.Gly1420Asp) c.4246-693G>A (n.4246-693G>A) c.4097G>A (p.Gly1366Asp) c.4130G>A (p.Gly1377Asp) c.4243-693G>A (n.4243-693G>A) | gnomAD v4 |
| 3 | g.38557272C>A | CA352145629 | SCN5A | c.4255G>T (p.Gly1419Cys) c.4258G>T (p.Gly1420Cys) c.4246-694G>T (n.4246-694G>T) c.4096G>T (p.Gly1366Cys) c.4129G>T (p.Gly1377Cys) c.4243-694G>T (n.4243-694G>T) | ClinVar |
| 3 | g.38557272C= | CA1358564200 | SCN5A | c.4255G= (p.Gly1419=) c.4258G= (p.Gly1420=) c.4246-694G= (n.4246-694G=) c.4096G= (p.Gly1366=) c.4129G= (p.Gly1377=) c.4243-694G= (n.4243-694G=) | |
| 3 | g.38557272C>G | CA018042 | SCN5A | c.4255G>C (p.Gly1419Arg) c.4258G>C (p.Gly1420Arg) c.4246-694G>C (n.4246-694G>C) c.4096G>C (p.Gly1366Arg) c.4129G>C (p.Gly1377Arg) c.4243-694G>C (n.4243-694G>C) | ClinVar dbSNP |
| 3 | g.38557272C>T | CA352145630 | SCN5A | c.4255G>A (p.Gly1419Ser) c.4258G>A (p.Gly1420Ser) c.4246-694G>A (n.4246-694G>A) c.4096G>A (p.Gly1366Ser) c.4129G>A (p.Gly1377Ser) c.4243-694G>A (n.4243-694G>A) | COSMIC COSMIC COSMIC |
| 3 | g.38557273T>A | CA352145631 | SCN5A | c.4254A>T (p.Lys1418Asn) c.4257A>T (p.Lys1419Asn) c.4246-695A>T (n.4246-695A>T) c.4095A>T (p.Lys1365Asn) c.4128A>T (p.Lys1376Asn) c.4243-695A>T (n.4243-695A>T) | |
| 3 | g.38557273T>C | CA433136228 | SCN5A | c.4254A>G (p.Lys1418=) c.4257A>G (p.Lys1419=) c.4246-695A>G (n.4246-695A>G) c.4095A>G (p.Lys1365=) c.4128A>G (p.Lys1376=) c.4243-695A>G (n.4243-695A>G) | |
| 3 | g.38557273T>G | CA352145632 | SCN5A | c.4254A>C (p.Lys1418Asn) c.4257A>C (p.Lys1419Asn) c.4246-695A>C (n.4246-695A>C) c.4095A>C (p.Lys1365Asn) c.4128A>C (p.Lys1376Asn) c.4243-695A>C (n.4243-695A>C) | |
| 3 | g.38557274T>A | CA352145633 | SCN5A | c.4253A>T (p.Lys1418Ile) c.4256A>T (p.Lys1419Ile) c.4246-696A>T (n.4246-696A>T) c.4094A>T (p.Lys1365Ile) c.4127A>T (p.Lys1376Ile) c.4243-696A>T (n.4243-696A>T) | |
| 3 | g.38557274T>C | CA352145634 | SCN5A | c.4253A>G (p.Lys1418Arg) c.4256A>G (p.Lys1419Arg) c.4246-696A>G (n.4246-696A>G) c.4094A>G (p.Lys1365Arg) c.4127A>G (p.Lys1376Arg) c.4243-696A>G (n.4243-696A>G) | |
| 3 | g.38557274T>G | CA352145635 | SCN5A | c.4253A>C (p.Lys1418Thr) c.4256A>C (p.Lys1419Thr) c.4246-696A>C (n.4246-696A>C) c.4094A>C (p.Lys1365Thr) c.4127A>C (p.Lys1376Thr) c.4243-696A>C (n.4243-696A>C) | |
| 3 | g.38557275T>A | CA352145636 | SCN5A | c.4252A>T (p.Lys1418Ter) c.4255A>T (p.Lys1419Ter) c.4246-697A>T (n.4246-697A>T) c.4093A>T (p.Lys1365Ter) c.4126A>T (p.Lys1376Ter) c.4243-697A>T (n.4243-697A>T) | dbSNP |
| 3 | g.38557275T>C | CA018037 | SCN5A | c.4252A>G (p.Lys1418Glu) c.4255A>G (p.Lys1419Glu) c.4246-697A>G (n.4246-697A>G) c.4093A>G (p.Lys1365Glu) c.4126A>G (p.Lys1376Glu) c.4243-697A>G (n.4243-697A>G) | ClinVar dbSNP |
| 3 | g.38557275T>G | CA352145637 | SCN5A | c.4252A>C (p.Lys1418Gln) c.4255A>C (p.Lys1419Gln) c.4246-697A>C (n.4246-697A>C) c.4093A>C (p.Lys1365Gln) c.4126A>C (p.Lys1376Gln) c.4243-697A>C (n.4243-697A>C) | |
| 3 | g.38557275T= | CA1358564206 | SCN5A | c.4252A= (p.Lys1418=) c.4255A= (p.Lys1419=) c.4246-697A= (n.4246-697A=) c.4093A= (p.Lys1365=) c.4126A= (p.Lys1376=) c.4243-697A= (n.4243-697A=) | |
| 3 | g.38557276A>C | CA352145638 | SCN5A | c.4251T>G (p.Phe1417Leu) c.4254T>G (p.Phe1418Leu) c.4246-698T>G (n.4246-698T>G) c.4092T>G (p.Phe1364Leu) c.4125T>G (p.Phe1375Leu) c.4243-698T>G (n.4243-698T>G) | |
| 3 | g.38557276A>G | CA433136235 | SCN5A | c.4251T>C (p.Phe1417=) c.4254T>C (p.Phe1418=) c.4246-698T>C (n.4246-698T>C) c.4092T>C (p.Phe1364=) c.4125T>C (p.Phe1375=) c.4243-698T>C (n.4243-698T>C) | |
| 3 | g.38557276A>T | CA352145639 | SCN5A | c.4251T>A (p.Phe1417Leu) c.4254T>A (p.Phe1418Leu) c.4246-698T>A (n.4246-698T>A) c.4092T>A (p.Phe1364Leu) c.4125T>A (p.Phe1375Leu) c.4243-698T>A (n.4243-698T>A) | |
| 3 | g.38557277A>C | CA352145640 | SCN5A | c.4250T>G (p.Phe1417Cys) c.4253T>G (p.Phe1418Cys) c.4246-699T>G (n.4246-699T>G) c.4091T>G (p.Phe1364Cys) c.4124T>G (p.Phe1375Cys) c.4243-699T>G (n.4243-699T>G) | |
| 3 | g.38557277A>G | CA352145641 | SCN5A | c.4250T>C (p.Phe1417Ser) c.4253T>C (p.Phe1418Ser) c.4246-699T>C (n.4246-699T>C) c.4091T>C (p.Phe1364Ser) c.4124T>C (p.Phe1375Ser) c.4243-699T>C (n.4243-699T>C) | |
| 3 | g.38557277A>T | CA352145642 | SCN5A | c.4250T>A (p.Phe1417Tyr) c.4253T>A (p.Phe1418Tyr) c.4246-699T>A (n.4246-699T>A) c.4091T>A (p.Phe1364Tyr) c.4124T>A (p.Phe1375Tyr) c.4243-699T>A (n.4243-699T>A) | |
| 3 | g.38557278A>C | CA352145645 | SCN5A | c.4249T>G (p.Phe1417Val) c.4252T>G (p.Phe1418Val) c.4246-700T>G (n.4246-700T>G) c.4090T>G (p.Phe1364Val) c.4123T>G (p.Phe1375Val) c.4243-700T>G (n.4243-700T>G) | |
| 3 | g.38557278A>G | CA352145644 | SCN5A | c.4249T>C (p.Phe1417Leu) c.4252T>C (p.Phe1418Leu) c.4246-700T>C (n.4246-700T>C) c.4090T>C (p.Phe1364Leu) c.4123T>C (p.Phe1375Leu) c.4243-700T>C (n.4243-700T>C) | |
| 3 | g.38557278A>T | CA352145643 | SCN5A | c.4249T>A (p.Phe1417Ile) c.4252T>A (p.Phe1418Ile) c.4246-700T>A (n.4246-700T>A) c.4090T>A (p.Phe1364Ile) c.4123T>A (p.Phe1375Ile) c.4243-700T>A (n.4243-700T>A) | |
| 3 | g.38557279T>A | CA433136239 | SCN5A | c.4248A>T (p.Thr1416=) c.4251A>T (p.Thr1417=) c.4246-701A>T (n.4246-701A>T) c.4089A>T (p.Thr1363=) c.4122A>T (p.Thr1374=) c.4243-701A>T (n.4243-701A>T) | |
| 3 | g.38557279T>C | CA433136241 | SCN5A | c.4248A>G (p.Thr1416=) c.4251A>G (p.Thr1417=) c.4246-701A>G (n.4246-701A>G) c.4089A>G (p.Thr1363=) c.4122A>G (p.Thr1374=) c.4243-701A>G (n.4243-701A>G) | |
| 3 | g.38557279T>G | CA433136242 | SCN5A | c.4248A>C (p.Thr1416=) c.4251A>C (p.Thr1417=) c.4246-701A>C (n.4246-701A>C) c.4089A>C (p.Thr1363=) c.4122A>C (p.Thr1374=) c.4243-701A>C (n.4243-701A>C) | |
| 3 | g.38557280G>A | CA352145646 | SCN5A | c.4247C>T (p.Thr1416Ile) c.4250C>T (p.Thr1417Ile) c.4246-702C>T (n.4246-702C>T) c.4088C>T (p.Thr1363Ile) c.4121C>T (p.Thr1374Ile) c.4243-702C>T (n.4243-702C>T) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38557280G>C | CA352145647 | SCN5A | c.4247C>G (p.Thr1416Arg) c.4250C>G (p.Thr1417Arg) c.4246-702C>G (n.4246-702C>G) c.4088C>G (p.Thr1363Arg) c.4121C>G (p.Thr1374Arg) c.4243-702C>G (n.4243-702C>G) | |
| 3 | g.38557280G= | CA1358564207 | SCN5A | c.4247C= (p.Thr1416=) c.4250C= (p.Thr1417=) c.4246-702C= (n.4246-702C=) c.4088C= (p.Thr1363=) c.4121C= (p.Thr1374=) c.4243-702C= (n.4243-702C=) | |
| 3 | g.38557280G>T | CA352145648 | SCN5A | c.4247C>A (p.Thr1416Lys) c.4250C>A (p.Thr1417Lys) c.4246-702C>A (n.4246-702C>A) c.4088C>A (p.Thr1363Lys) c.4121C>A (p.Thr1374Lys) c.4243-702C>A (n.4243-702C>A) | |
| 3 | g.38557281T>A | CA352145649 | SCN5A | c.4246A>T (p.Thr1416Ser) c.4249A>T (p.Thr1417Ser) c.4246-703A>T (n.4246-703A>T) c.4087A>T (p.Thr1363Ser) c.4120A>T (p.Thr1374Ser) c.4243-703A>T (n.4243-703A>T) | |
| 3 | g.38557281T>C | CA352145650 | SCN5A | c.4246A>G (p.Thr1416Ala) c.4249A>G (p.Thr1417Ala) c.4246-703A>G (n.4246-703A>G) c.4087A>G (p.Thr1363Ala) c.4120A>G (p.Thr1374Ala) c.4243-703A>G (n.4243-703A>G) | |
| 3 | g.38557281T>G | CA352145651 | SCN5A | c.4246A>C (p.Thr1416Pro) c.4249A>C (p.Thr1417Pro) c.4246-703A>C (n.4246-703A>C) c.4087A>C (p.Thr1363Pro) c.4120A>C (p.Thr1374Pro) c.4243-703A>C (n.4243-703A>C) | |
| 3 | g.38557282T>A | CA433136246 | SCN5A | c.4245A>T (p.Ala1415=) c.4248A>T (p.Ala1416=) c.4246-704A>T (n.4246-704A>T) c.4086A>T (p.Ala1362=) c.4119A>T (p.Ala1373=) c.4243-704A>T (n.4243-704A>T) | |
| 3 | g.38557282T>C | CA433136247 | SCN5A | c.4245A>G (p.Ala1415=) c.4248A>G (p.Ala1416=) c.4246-704A>G (n.4246-704A>G) c.4086A>G (p.Ala1362=) c.4119A>G (p.Ala1373=) c.4243-704A>G (n.4243-704A>G) | |
| 3 | g.38557282T>G | CA433136249 | SCN5A | c.4245A>C (p.Ala1415=) c.4248A>C (p.Ala1416=) c.4246-704A>C (n.4246-704A>C) c.4086A>C (p.Ala1362=) c.4119A>C (p.Ala1373=) c.4243-704A>C (n.4243-704A>C) | |
| 3 | g.38557283G>A | CA352145652 | SCN5A | c.4244C>T (p.Ala1415Val) c.4247C>T (p.Ala1416Val) c.4246-705C>T (n.4246-705C>T) c.4085C>T (p.Ala1362Val) c.4118C>T (p.Ala1373Val) c.4243-705C>T (n.4243-705C>T) | |
| 3 | g.38557283G>C | CA352145653 | SCN5A | c.4244C>G (p.Ala1415Gly) c.4247C>G (p.Ala1416Gly) c.4246-705C>G (n.4246-705C>G) c.4085C>G (p.Ala1362Gly) c.4118C>G (p.Ala1373Gly) c.4243-705C>G (n.4243-705C>G) | |
| 3 | g.38557283G>T | CA352145654 | SCN5A | c.4244C>A (p.Ala1415Glu) c.4247C>A (p.Ala1416Glu) c.4246-705C>A (n.4246-705C>A) c.4085C>A (p.Ala1362Glu) c.4118C>A (p.Ala1373Glu) c.4243-705C>A (n.4243-705C>A) | |
| 3 | g.38557284C>A | CA352145655 | SCN5A | c.4243G>T (p.Ala1415Ser) c.4246G>T (p.Ala1416Ser) c.4246-706G>T (n.4246-706G>T) c.4084G>T (p.Ala1362Ser) c.4117G>T (p.Ala1373Ser) c.4243-706G>T (n.4243-706G>T) | |
| 3 | g.38557284C>G | CA352145656 | SCN5A | c.4243G>C (p.Ala1415Pro) c.4246G>C (p.Ala1416Pro) c.4246-706G>C (n.4246-706G>C) c.4084G>C (p.Ala1362Pro) c.4117G>C (p.Ala1373Pro) c.4243-706G>C (n.4243-706G>C) | |
| 3 | g.38557284C>T | CA352145657 | SCN5A | c.4243G>A (p.Ala1415Thr) c.4246G>A (p.Ala1416Thr) c.4246-706G>A (n.4246-706G>A) c.4084G>A (p.Ala1362Thr) c.4117G>A (p.Ala1373Thr) c.4243-706G>A (n.4243-706G>A) | ClinVar dbSNP |
| 3 | g.38557285C>A | CA352145660 | SCN5A | c.4243-1G>T (n.4243-1G>T) c.4246-1G>T (n.4246-1G>T) c.4246-707G>T (n.4246-707G>T) c.4084-1G>T (n.4084-1G>T) c.4117-1G>T (n.4117-1G>T) c.4243-707G>T (n.4243-707G>T) | |
| 3 | g.38557285C>G | CA352145659 | SCN5A | c.4243-1G>C (n.4243-1G>C) c.4246-1G>C (n.4246-1G>C) c.4246-707G>C (n.4246-707G>C) c.4084-1G>C (n.4084-1G>C) c.4117-1G>C (n.4117-1G>C) c.4243-707G>C (n.4243-707G>C) | |
| 3 | g.38557285C>T | CA352145658 | SCN5A | c.4243-1G>A (n.4243-1G>A) c.4246-1G>A (n.4246-1G>A) c.4246-707G>A (n.4246-707G>A) c.4084-1G>A (n.4084-1G>A) c.4117-1G>A (n.4117-1G>A) c.4243-707G>A (n.4243-707G>A) | gnomAD v3 gnomAD v4 |
| 3 | g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTC | CA1046993066 | SCN5A | c.4243-1_4243insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4243-1_4243insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) c.4246-1_4246insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4246-1_4246insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) c.4246-707_4246-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4246-707_4246-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) c.4084-1_4084insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4084-1_4084insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) c.4117-1_4117insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4117-1_4117insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) c.4243-707_4243-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG (n.4243-707_4243-706insAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGTG) | gnomAD v3 gnomAD v4 |
| 3 | g.38557285_38557286delinsCT | CA1358564209 | SCN5A | c.4243-2_4243-1delinsAG (n.4243-2_4243-1delinsAG) c.4246-2_4246-1delinsAG (n.4246-2_4246-1delinsAG) c.4246-708_4246-707delinsAG (n.4246-708_4246-707delinsAG) c.4084-2_4084-1delinsAG (n.4084-2_4084-1delinsAG) c.4117-2_4117-1delinsAG (n.4117-2_4117-1delinsAG) c.4243-708_4243-707delinsAG (n.4243-708_4243-707delinsAG) | |
| 3 | g.38557285_38557286insACCTGCAGAAGGGCCAGGTACCCGGCCCCCACGTTGTCAAAGTTGACTTTCACCTTGGTCCAGTACAATTCTCCGGTCAAGTTCAAGGACTCACACTGGCTCTTGTTGTTCACGATGGTG | CA2665111258 | SCN5A | c.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4243-2_4243-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) c.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4246-2_4246-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) c.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4246-708_4246-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) c.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4084-2_4084-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) c.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4117-2_4117-1insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) c.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT (n.4243-708_4243-707insCACCATCGTGAACAACAAGAGCCAGTGTGAGTCCTTGAACTTGACCGGAGAATTGTACTGGACCAAGGTGAAAGTCAACTTTGACAACGTGGGGGCCGGGTACCTGGCCCTTCTGCAGGT) | gnomAD v4 |
| 3 | g.38557286del | CA018030 | SCN5A | c.4243-2del (n.4243-2del) c.4246-2del (n.4246-2del) c.4246-708del (n.4246-708del) c.4084-2del (n.4084-2del) c.4117-2del (n.4117-2del) c.4243-708del (n.4243-708del) | ClinVar dbSNP |
| 3 | g.38557286T>A | CA352145661 | SCN5A | c.4243-2A>T (n.4243-2A>T) c.4246-2A>T (n.4246-2A>T) c.4246-708A>T (n.4246-708A>T) c.4084-2A>T (n.4084-2A>T) c.4117-2A>T (n.4117-2A>T) c.4243-708A>T (n.4243-708A>T) | dbSNP |
| 3 | g.38557286T>C | CA352145662 | SCN5A | c.4243-2A>G (n.4243-2A>G) c.4246-2A>G (n.4246-2A>G) c.4246-708A>G (n.4246-708A>G) c.4084-2A>G (n.4084-2A>G) c.4117-2A>G (n.4117-2A>G) c.4243-708A>G (n.4243-708A>G) | ClinVar dbSNP |
| 3 | g.38557286T>G | CA352145663 | SCN5A | c.4243-2A>C (n.4243-2A>C) c.4246-2A>C (n.4246-2A>C) c.4246-708A>C (n.4246-708A>C) c.4084-2A>C (n.4084-2A>C) c.4117-2A>C (n.4117-2A>C) c.4243-708A>C (n.4243-708A>C) | |
| 3 | g.38557286T= | CA1358564218 | SCN5A | c.4243-2A= (n.4243-2A=) c.4246-2A= (n.4246-2A=) c.4246-708A= (n.4246-708A=) c.4084-2A= (n.4084-2A=) c.4117-2A= (n.4117-2A=) c.4243-708A= (n.4243-708A=) | |
| 3 | g.38557287G>A | CA2665111259 | SCN5A | c.4243-3C>T (n.4243-3C>T) c.4246-3C>T (n.4246-3C>T) c.4246-709C>T (n.4246-709C>T) c.4084-3C>T (n.4084-3C>T) c.4117-3C>T (n.4117-3C>T) c.4243-709C>T (n.4243-709C>T) | gnomAD v4 |
| 3 | g.38557288G>A | CA062993 | SCN5A | c.4243-4C>T (n.4243-4C>T) c.4246-4C>T (n.4246-4C>T) c.4246-710C>T (n.4246-710C>T) c.4084-4C>T (n.4084-4C>T) c.4117-4C>T (n.4117-4C>T) c.4243-710C>T (n.4243-710C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557288G= | CA1358564219 | SCN5A | c.4243-4C= (n.4243-4C=) c.4246-4C= (n.4246-4C=) c.4246-710C= (n.4246-710C=) c.4084-4C= (n.4084-4C=) c.4117-4C= (n.4117-4C=) c.4243-710C= (n.4243-710C=) | |
| 3 | g.38557288G>T | CA2580069841 | SCN5A | c.4243-4C>A (n.4243-4C>A) c.4246-4C>A (n.4246-4C>A) c.4246-710C>A (n.4246-710C>A) c.4084-4C>A (n.4084-4C>A) c.4117-4C>A (n.4117-4C>A) c.4243-710C>A (n.4243-710C>A) | ClinVar |
| 3 | g.38557289G>A | CA645530246 | SCN5A | c.4243-5C>T (n.4243-5C>T) c.4246-5C>T (n.4246-5C>T) c.4246-711C>T (n.4246-711C>T) c.4084-5C>T (n.4084-5C>T) c.4117-5C>T (n.4117-5C>T) c.4243-711C>T (n.4243-711C>T) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38557290A= | CA1358564220 | SCN5A | c.4243-6T= (n.4243-6T=) c.4246-6T= (n.4246-6T=) c.4246-712T= (n.4246-712T=) c.4084-6T= (n.4084-6T=) c.4117-6T= (n.4117-6T=) c.4243-712T= (n.4243-712T=) | |
| 3 | g.38557290A>G | CA063001 | SCN5A | c.4243-6T>C (n.4243-6T>C) c.4246-6T>C (n.4246-6T>C) c.4246-712T>C (n.4246-712T>C) c.4084-6T>C (n.4084-6T>C) c.4117-6T>C (n.4117-6T>C) c.4243-712T>C (n.4243-712T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38557291G>A | CA645530247 | SCN5A | c.4243-7C>T (n.4243-7C>T) c.4246-7C>T (n.4246-7C>T) c.4246-713C>T (n.4246-713C>T) c.4084-7C>T (n.4084-7C>T) c.4117-7C>T (n.4117-7C>T) c.4243-713C>T (n.4243-713C>T) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38557291G= | CA1358564221 | SCN5A | c.4243-7C= (n.4243-7C=) c.4246-7C= (n.4246-7C=) c.4246-713C= (n.4246-713C=) c.4084-7C= (n.4084-7C=) c.4117-7C= (n.4117-7C=) c.4243-713C= (n.4243-713C=) | |
| 3 | g.38557292G>A | CA645530248 | SCN5A | c.4243-8C>T (n.4243-8C>T) c.4246-8C>T (n.4246-8C>T) c.4246-714C>T (n.4246-714C>T) c.4084-8C>T (n.4084-8C>T) c.4117-8C>T (n.4117-8C>T) c.4243-714C>T (n.4243-714C>T) | COSMIC COSMIC COSMIC |
| 3 | g.38557294A>G | CA2665111260 | SCN5A | c.4243-10T>C (n.4243-10T>C) c.4246-10T>C (n.4246-10T>C) c.4246-716T>C (n.4246-716T>C) c.4084-10T>C (n.4084-10T>C) c.4117-10T>C (n.4117-10T>C) c.4243-716T>C (n.4243-716T>C) | gnomAD v4 |
| 3 | g.38557299C>T | CA2665111261 | SCN5A | c.4243-15G>A (n.4243-15G>A) c.4246-15G>A (n.4246-15G>A) c.4246-721G>A (n.4246-721G>A) c.4084-15G>A (n.4084-15G>A) c.4117-15G>A (n.4117-15G>A) c.4243-721G>A (n.4243-721G>A) | gnomAD v4 |
| 3 | g.38557301A>G | CA2665111262 | SCN5A | c.4243-17T>C (n.4243-17T>C) c.4246-17T>C (n.4246-17T>C) c.4246-723T>C (n.4246-723T>C) c.4084-17T>C (n.4084-17T>C) c.4117-17T>C (n.4117-17T>C) c.4243-723T>C (n.4243-723T>C) | gnomAD v4 |
| 3 | g.38557302G>C | CA2561176749 | SCN5A | c.4243-18C>G (n.4243-18C>G) c.4246-18C>G (n.4246-18C>G) c.4246-724C>G (n.4246-724C>G) c.4084-18C>G (n.4084-18C>G) c.4117-18C>G (n.4117-18C>G) c.4243-724C>G (n.4243-724C>G) | gnomAD v4 |
| 3 | g.38557302G>T | CA2573136306 | SCN5A | c.4243-18C>A (n.4243-18C>A) c.4246-18C>A (n.4246-18C>A) c.4246-724C>A (n.4246-724C>A) c.4084-18C>A (n.4084-18C>A) c.4117-18C>A (n.4117-18C>A) c.4243-724C>A (n.4243-724C>A) | ClinVar dbSNP |
| 3 | g.38557307A>G | CA2516143573 | SCN5A | c.4243-23T>C (n.4243-23T>C) c.4246-23T>C (n.4246-23T>C) c.4246-729T>C (n.4246-729T>C) c.4084-23T>C (n.4084-23T>C) c.4117-23T>C (n.4117-23T>C) c.4243-729T>C (n.4243-729T>C) | |
| 3 | g.38557308G>A | CA2665111263 | SCN5A | c.4243-24C>T (n.4243-24C>T) c.4246-24C>T (n.4246-24C>T) c.4246-730C>T (n.4246-730C>T) c.4084-24C>T (n.4084-24C>T) c.4117-24C>T (n.4117-24C>T) c.4243-730C>T (n.4243-730C>T) | gnomAD v4 |
| 3 | g.38557309A= | CA1358564222 | SCN5A | c.4243-25T= (n.4243-25T=) c.4246-25T= (n.4246-25T=) c.4246-731T= (n.4246-731T=) c.4084-25T= (n.4084-25T=) c.4117-25T= (n.4117-25T=) c.4243-731T= (n.4243-731T=) | |
| 3 | g.38557309A>G | CA906898465 | SCN5A | c.4243-25T>C (n.4243-25T>C) c.4246-25T>C (n.4246-25T>C) c.4246-731T>C (n.4246-731T>C) c.4084-25T>C (n.4084-25T>C) c.4117-25T>C (n.4117-25T>C) c.4243-731T>C (n.4243-731T>C) | dbSNP |
| 3 | g.38557310C>A | CA2665111264 | SCN5A | c.4243-26G>T (n.4243-26G>T) c.4246-26G>T (n.4246-26G>T) c.4246-732G>T (n.4246-732G>T) c.4084-26G>T (n.4084-26G>T) c.4117-26G>T (n.4117-26G>T) c.4243-732G>T (n.4243-732G>T) | gnomAD v4 |
| 3 | g.38557310C= | CA1358564224 | SCN5A | c.4243-26G= (n.4243-26G=) c.4246-26G= (n.4246-26G=) c.4246-732G= (n.4246-732G=) c.4084-26G= (n.4084-26G=) c.4117-26G= (n.4117-26G=) c.4243-732G= (n.4243-732G=) | |
| 3 | g.38557310C>T | CA1358564223 | SCN5A | c.4243-26G>A (n.4243-26G>A) c.4246-26G>A (n.4246-26G>A) c.4246-732G>A (n.4246-732G>A) c.4084-26G>A (n.4084-26G>A) c.4117-26G>A (n.4117-26G>A) c.4243-732G>A (n.4243-732G>A) | dbSNP gnomAD v4 |
| 3 | g.38557311A= | CA1358564225 | SCN5A | c.4243-27T= (n.4243-27T=) c.4246-27T= (n.4246-27T=) c.4246-733T= (n.4246-733T=) c.4084-27T= (n.4084-27T=) c.4117-27T= (n.4117-27T=) c.4243-733T= (n.4243-733T=) | |
| 3 | g.38557311A>G | CA062979 | SCN5A | c.4243-27T>C (n.4243-27T>C) c.4246-27T>C (n.4246-27T>C) c.4246-733T>C (n.4246-733T>C) c.4084-27T>C (n.4084-27T>C) c.4117-27T>C (n.4117-27T>C) c.4243-733T>C (n.4243-733T>C) | dbSNP ExAC gnomAD v2 |
| 3 | g.38557312A= | CA1358564226 | SCN5A | c.4243-28T= (n.4243-28T=) c.4246-28T= (n.4246-28T=) c.4246-734T= (n.4246-734T=) c.4084-28T= (n.4084-28T=) c.4117-28T= (n.4117-28T=) c.4243-734T= (n.4243-734T=) | |
| 3 | g.38557312A>C | CA542270127 | SCN5A | c.4243-28T>G (n.4243-28T>G) c.4246-28T>G (n.4246-28T>G) c.4246-734T>G (n.4246-734T>G) c.4084-28T>G (n.4084-28T>G) c.4117-28T>G (n.4117-28T>G) c.4243-734T>G (n.4243-734T>G) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557313T>C | CA1358564229 | SCN5A | c.4243-29A>G (n.4243-29A>G) c.4246-29A>G (n.4246-29A>G) c.4246-735A>G (n.4246-735A>G) c.4084-29A>G (n.4084-29A>G) c.4117-29A>G (n.4117-29A>G) c.4243-735A>G (n.4243-735A>G) | dbSNP |
| 3 | g.38557313T= | CA1358564228 | SCN5A | c.4243-29A= (n.4243-29A=) c.4246-29A= (n.4246-29A=) c.4246-735A= (n.4246-735A=) c.4084-29A= (n.4084-29A=) c.4117-29A= (n.4117-29A=) c.4243-735A= (n.4243-735A=) | |
| 3 | g.38557314C>A | CA2665111265 | SCN5A | c.4243-30G>T (n.4243-30G>T) c.4246-30G>T (n.4246-30G>T) c.4246-736G>T (n.4246-736G>T) c.4084-30G>T (n.4084-30G>T) c.4117-30G>T (n.4117-30G>T) c.4243-736G>T (n.4243-736G>T) | gnomAD v4 |
| 3 | g.38557315A>T | CA2665111266 | SCN5A | c.4243-31T>A (n.4243-31T>A) c.4246-31T>A (n.4246-31T>A) c.4246-737T>A (n.4246-737T>A) c.4084-31T>A (n.4084-31T>A) c.4117-31T>A (n.4117-31T>A) c.4243-737T>A (n.4243-737T>A) | gnomAD v4 |
| 3 | g.38557316T= | CA1358564230 | SCN5A | c.4243-32A= (n.4243-32A=) c.4246-32A= (n.4246-32A=) c.4246-738A= (n.4246-738A=) c.4084-32A= (n.4084-32A=) c.4117-32A= (n.4117-32A=) c.4243-738A= (n.4243-738A=) | |
| 3 | g.38557319_38557322dup | CA1358564231 | SCN5A | c.4243-36_4243-33dup (n.4243-36_4243-33dup) c.4246-36_4246-33dup (n.4246-36_4246-33dup) c.4246-742_4246-739dup (n.4246-742_4246-739dup) c.4084-36_4084-33dup (n.4084-36_4084-33dup) c.4117-36_4117-33dup (n.4117-36_4117-33dup) c.4243-742_4243-739dup (n.4243-742_4243-739dup) | dbSNP gnomAD v4 |
| 3 | g.38557321T>C | CA1358564233 | SCN5A | c.4243-37A>G (n.4243-37A>G) c.4246-37A>G (n.4246-37A>G) c.4246-743A>G (n.4246-743A>G) c.4084-37A>G (n.4084-37A>G) c.4117-37A>G (n.4117-37A>G) c.4243-743A>G (n.4243-743A>G) | dbSNP gnomAD v4 |
| 3 | g.38557321T= | CA1358564235 | SCN5A | c.4243-37A= (n.4243-37A=) c.4246-37A= (n.4246-37A=) c.4246-743A= (n.4246-743A=) c.4084-37A= (n.4084-37A=) c.4117-37A= (n.4117-37A=) c.4243-743A= (n.4243-743A=) | |
| 3 | g.38557323C= | CA1358564238 | SCN5A | c.4243-39G= (n.4243-39G=) c.4246-39G= (n.4246-39G=) c.4246-745G= (n.4246-745G=) c.4084-39G= (n.4084-39G=) c.4117-39G= (n.4117-39G=) c.4243-745G= (n.4243-745G=) | |
| 3 | g.38557323C>T | CA906898470 | SCN5A | c.4243-39G>A (n.4243-39G>A) c.4246-39G>A (n.4246-39G>A) c.4246-745G>A (n.4246-745G>A) c.4084-39G>A (n.4084-39G>A) c.4117-39G>A (n.4117-39G>A) c.4243-745G>A (n.4243-745G>A) | dbSNP gnomAD v4 |
| 3 | g.38557326T>C | CA2702483370 | SCN5A | c.4243-42A>G (n.4243-42A>G) c.4246-42A>G (n.4246-42A>G) c.4246-748A>G (n.4246-748A>G) c.4084-42A>G (n.4084-42A>G) c.4117-42A>G (n.4117-42A>G) c.4243-748A>G (n.4243-748A>G) | dbSNP |
| 3 | g.38557327A>T | CA2577553071 | SCN5A | c.4243-43T>A (n.4243-43T>A) c.4246-43T>A (n.4246-43T>A) c.4246-749T>A (n.4246-749T>A) c.4084-43T>A (n.4084-43T>A) c.4117-43T>A (n.4117-43T>A) c.4243-749T>A (n.4243-749T>A) | |
| 3 | g.38557328C>T | CA2665111267 | SCN5A | c.4243-44G>A (n.4243-44G>A) c.4246-44G>A (n.4246-44G>A) c.4246-750G>A (n.4246-750G>A) c.4084-44G>A (n.4084-44G>A) c.4117-44G>A (n.4117-44G>A) c.4243-750G>A (n.4243-750G>A) | gnomAD v4 |
| 3 | g.38557329C= | CA1358564242 | SCN5A | c.4243-45G= (n.4243-45G=) c.4246-45G= (n.4246-45G=) c.4246-751G= (n.4246-751G=) c.4084-45G= (n.4084-45G=) c.4117-45G= (n.4117-45G=) c.4243-751G= (n.4243-751G=) | |
| 3 | g.38557329C>G | CA542270128 | SCN5A | c.4243-45G>C (n.4243-45G>C) c.4246-45G>C (n.4246-45G>C) c.4246-751G>C (n.4246-751G>C) c.4084-45G>C (n.4084-45G>C) c.4117-45G>C (n.4117-45G>C) c.4243-751G>C (n.4243-751G>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38557331C= | CA1358564245 | SCN5A | c.4243-47G= (n.4243-47G=) c.4246-47G= (n.4246-47G=) c.4246-753G= (n.4246-753G=) c.4084-47G= (n.4084-47G=) c.4117-47G= (n.4117-47G=) c.4243-753G= (n.4243-753G=) | |
| 3 | g.38557331C>T | CA062987 | SCN5A | c.4243-47G>A (n.4243-47G>A) c.4246-47G>A (n.4246-47G>A) c.4246-753G>A (n.4246-753G>A) c.4084-47G>A (n.4084-47G>A) c.4117-47G>A (n.4117-47G>A) c.4243-753G>A (n.4243-753G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38557332G>A | CA062990 | SCN5A | c.4243-48C>T (n.4243-48C>T) c.4246-48C>T (n.4246-48C>T) c.4246-754C>T (n.4246-754C>T) c.4084-48C>T (n.4084-48C>T) c.4117-48C>T (n.4117-48C>T) c.4243-754C>T (n.4243-754C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38557332G>C | CA906898491 | SCN5A | c.4243-48C>G (n.4243-48C>G) c.4246-48C>G (n.4246-48C>G) c.4246-754C>G (n.4246-754C>G) c.4084-48C>G (n.4084-48C>G) c.4117-48C>G (n.4117-48C>G) c.4243-754C>G (n.4243-754C>G) | dbSNP |
| 3 | g.38557332G= | CA1358564248 | SCN5A | c.4243-48C= (n.4243-48C=) c.4246-48C= (n.4246-48C=) c.4246-754C= (n.4246-754C=) c.4084-48C= (n.4084-48C=) c.4117-48C= (n.4117-48C=) c.4243-754C= (n.4243-754C=) | |
| 3 | g.38557332G>T | CA2665111268 | SCN5A | c.4243-48C>A (n.4243-48C>A) c.4246-48C>A (n.4246-48C>A) c.4246-754C>A (n.4246-754C>A) c.4084-48C>A (n.4084-48C>A) c.4117-48C>A (n.4117-48C>A) c.4243-754C>A (n.4243-754C>A) | gnomAD v4 |