Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38560291T>A | CA433332408 | SCN5A | c.4098A>T (p.Thr1366=) c.4101A>T (p.Thr1367=) c.3939A>T (p.Thr1313=) c.3972A>T (p.Thr1324=) | |
3 | g.38560291T>C | CA062842 | SCN5A | c.4098A>G (p.Thr1366=) c.4101A>G (p.Thr1367=) c.3939A>G (p.Thr1313=) c.3972A>G (p.Thr1324=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560291T>G | CA433332409 | SCN5A | c.4098A>C (p.Thr1366=) c.4101A>C (p.Thr1367=) c.3939A>C (p.Thr1313=) c.3972A>C (p.Thr1324=) | |
3 | g.38560291T= | CA1358565708 | SCN5A | c.4098A= (p.Thr1366=) c.4101A= (p.Thr1367=) c.3939A= (p.Thr1313=) c.3972A= (p.Thr1324=) | |
3 | g.38560292G>A | CA352146980 | SCN5A | c.4097C>T (p.Thr1366Ile) c.4100C>T (p.Thr1367Ile) c.3938C>T (p.Thr1313Ile) c.3971C>T (p.Thr1324Ile) | gnomAD v4 |
3 | g.38560292G>C | CA352146982 | SCN5A | c.4097C>G (p.Thr1366Arg) c.4100C>G (p.Thr1367Arg) c.3938C>G (p.Thr1313Arg) c.3971C>G (p.Thr1324Arg) | |
3 | g.38560292G>T | CA352146985 | SCN5A | c.4097C>A (p.Thr1366Lys) c.4100C>A (p.Thr1367Lys) c.3938C>A (p.Thr1313Lys) c.3971C>A (p.Thr1324Lys) | |
3 | g.38560293T>A | CA352146987 | SCN5A | c.4096A>T (p.Thr1366Ser) c.4099A>T (p.Thr1367Ser) c.3937A>T (p.Thr1313Ser) c.3970A>T (p.Thr1324Ser) | |
3 | g.38560293T>C | CA352146990 | SCN5A | c.4096A>G (p.Thr1366Ala) c.4099A>G (p.Thr1367Ala) c.3937A>G (p.Thr1313Ala) c.3970A>G (p.Thr1324Ala) | |
3 | g.38560293T>G | CA352146994 | SCN5A | c.4096A>C (p.Thr1366Pro) c.4099A>C (p.Thr1367Pro) c.3937A>C (p.Thr1313Pro) c.3970A>C (p.Thr1324Pro) | ClinVar dbSNP |
3 | g.38560293T= | CA1358565709 | SCN5A | c.4096A= (p.Thr1366=) c.4099A= (p.Thr1367=) c.3937A= (p.Thr1313=) c.3970A= (p.Thr1324=) | |
3 | g.38560294C>A | CA062827 | SCN5A | c.4095G>T (p.Gln1365His) c.4098G>T (p.Gln1366His) c.3936G>T (p.Gln1312His) c.3969G>T (p.Gln1323His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560294C= | CA1358565710 | SCN5A | c.4095G= (p.Gln1365=) c.4098G= (p.Gln1366=) c.3936G= (p.Gln1312=) c.3969G= (p.Gln1323=) | |
3 | g.38560294C>G | CA352146999 | SCN5A | c.4095G>C (p.Gln1365His) c.4098G>C (p.Gln1366His) c.3936G>C (p.Gln1312His) c.3969G>C (p.Gln1323His) | |
3 | g.38560294C>T | CA433332413 | SCN5A | c.4095G>A (p.Gln1365=) c.4098G>A (p.Gln1366=) c.3936G>A (p.Gln1312=) c.3969G>A (p.Gln1323=) | |
3 | g.38560295T>A | CA352147015 | SCN5A | c.4094A>T (p.Gln1365Leu) c.4097A>T (p.Gln1366Leu) c.3935A>T (p.Gln1312Leu) c.3968A>T (p.Gln1323Leu) | gnomAD v4 |
3 | g.38560295T>C | CA062822 | SCN5A | c.4094A>G (p.Gln1365Arg) c.4097A>G (p.Gln1366Arg) c.3935A>G (p.Gln1312Arg) c.3968A>G (p.Gln1323Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560295T>G | CA352147004 | SCN5A | c.4094A>C (p.Gln1365Pro) c.4097A>C (p.Gln1366Pro) c.3935A>C (p.Gln1312Pro) c.3968A>C (p.Gln1323Pro) | |
3 | g.38560295T= | CA1358565711 | SCN5A | c.4094A= (p.Gln1365=) c.4097A= (p.Gln1366=) c.3935A= (p.Gln1312=) c.3968A= (p.Gln1323=) | |
3 | g.38560296G>A | CA352147018 | SCN5A | c.4093C>T (p.Gln1365Ter) c.4096C>T (p.Gln1366Ter) c.3934C>T (p.Gln1312Ter) c.3967C>T (p.Gln1323Ter) | |
3 | g.38560296G>C | CA352147020 | SCN5A | c.4093C>G (p.Gln1365Glu) c.4096C>G (p.Gln1366Glu) c.3934C>G (p.Gln1312Glu) c.3967C>G (p.Gln1323Glu) | |
3 | g.38560296G>T | CA352147023 | SCN5A | c.4093C>A (p.Gln1365Lys) c.4096C>A (p.Gln1366Lys) c.3934C>A (p.Gln1312Lys) c.3967C>A (p.Gln1323Lys) | |
3 | g.38560297G>A | CA433332416 | SCN5A | c.4092C>T (p.Asn1364=) c.4095C>T (p.Asn1365=) c.3933C>T (p.Asn1311=) c.3966C>T (p.Asn1322=) | |
3 | g.38560297G>C | CA352147026 | SCN5A | c.4092C>G (p.Asn1364Lys) c.4095C>G (p.Asn1365Lys) c.3933C>G (p.Asn1311Lys) c.3966C>G (p.Asn1322Lys) | |
3 | g.38560297G>T | CA352147028 | SCN5A | c.4092C>A (p.Asn1364Lys) c.4095C>A (p.Asn1365Lys) c.3933C>A (p.Asn1311Lys) c.3966C>A (p.Asn1322Lys) | gnomAD v4 |
3 | g.38560298T>A | CA352147032 | SCN5A | c.4091A>T (p.Asn1364Ile) c.4094A>T (p.Asn1365Ile) c.3932A>T (p.Asn1311Ile) c.3965A>T (p.Asn1322Ile) | |
3 | g.38560298T>C | CA352147034 | SCN5A | c.4091A>G (p.Asn1364Ser) c.4094A>G (p.Asn1365Ser) c.3932A>G (p.Asn1311Ser) c.3965A>G (p.Asn1322Ser) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560298T>G | CA352147036 | SCN5A | c.4091A>C (p.Asn1364Thr) c.4094A>C (p.Asn1365Thr) c.3932A>C (p.Asn1311Thr) c.3965A>C (p.Asn1322Thr) | |
3 | g.38560299T>A | CA352147039 | SCN5A | c.4090A>T (p.Asn1364Tyr) c.4093A>T (p.Asn1365Tyr) c.3931A>T (p.Asn1311Tyr) c.3964A>T (p.Asn1322Tyr) | |
3 | g.38560299T>C | CA352147041 | SCN5A | c.4090A>G (p.Asn1364Asp) c.4093A>G (p.Asn1365Asp) c.3931A>G (p.Asn1311Asp) c.3964A>G (p.Asn1322Asp) | |
3 | g.38560299T>G | CA352147044 | SCN5A | c.4090A>C (p.Asn1364His) c.4093A>C (p.Asn1365His) c.3931A>C (p.Asn1311His) c.3964A>C (p.Asn1322His) | |
3 | g.38560300G>A | CA433332417 | SCN5A | c.4089C>T (p.Ile1363=) c.4092C>T (p.Ile1364=) c.3930C>T (p.Ile1310=) c.3963C>T (p.Ile1321=) | |
3 | g.38560300G>C | CA352147046 | SCN5A | c.4089C>G (p.Ile1363Met) c.4092C>G (p.Ile1364Met) c.3930C>G (p.Ile1310Met) c.3963C>G (p.Ile1321Met) | |
3 | g.38560300G>T | CA433332418 | SCN5A | c.4089C>A (p.Ile1363=) c.4092C>A (p.Ile1364=) c.3930C>A (p.Ile1310=) c.3963C>A (p.Ile1321=) | |
3 | g.38560301A>C | CA352147049 | SCN5A | c.4088T>G (p.Ile1363Ser) c.4091T>G (p.Ile1364Ser) c.3929T>G (p.Ile1310Ser) c.3962T>G (p.Ile1321Ser) | |
3 | g.38560301A>G | CA352147055 | SCN5A | c.4088T>C (p.Ile1363Thr) c.4091T>C (p.Ile1364Thr) c.3929T>C (p.Ile1310Thr) c.3962T>C (p.Ile1321Thr) | |
3 | g.38560301A>T | CA352147052 | SCN5A | c.4088T>A (p.Ile1363Asn) c.4091T>A (p.Ile1364Asn) c.3929T>A (p.Ile1310Asn) c.3962T>A (p.Ile1321Asn) | |
3 | g.38560302T>A | CA352147057 | SCN5A | c.4087A>T (p.Ile1363Phe) c.4090A>T (p.Ile1364Phe) c.3928A>T (p.Ile1310Phe) c.3961A>T (p.Ile1321Phe) | |
3 | g.38560302T>C | CA72944803 | SCN5A | c.4087A>G (p.Ile1363Val) c.4090A>G (p.Ile1364Val) c.3928A>G (p.Ile1310Val) c.3961A>G (p.Ile1321Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560302T>G | CA352147060 | SCN5A | c.4087A>C (p.Ile1363Leu) c.4090A>C (p.Ile1364Leu) c.3928A>C (p.Ile1310Leu) c.3961A>C (p.Ile1321Leu) | ClinVar dbSNP |
3 | g.38560302T= | CA1358565712 | SCN5A | c.4087A= (p.Ile1363=) c.4090A= (p.Ile1364=) c.3928A= (p.Ile1310=) c.3961A= (p.Ile1321=) | |
3 | g.38560303G>A | CA433332421 | SCN5A | c.4086C>T (p.Cys1362=) c.4089C>T (p.Cys1363=) c.3927C>T (p.Cys1309=) c.3960C>T (p.Cys1320=) | ClinVar dbSNP |
3 | g.38560303G>C | CA352147065 | SCN5A | c.4086C>G (p.Cys1362Trp) c.4089C>G (p.Cys1363Trp) c.3927C>G (p.Cys1309Trp) c.3960C>G (p.Cys1320Trp) | |
3 | g.38560303G= | CA1358565713 | SCN5A | c.4086C= (p.Cys1362=) c.4089C= (p.Cys1363=) c.3927C= (p.Cys1309=) c.3960C= (p.Cys1320=) | |
3 | g.38560303G>T | CA352147067 | SCN5A | c.4086C>A (p.Cys1362Ter) c.4089C>A (p.Cys1363Ter) c.3927C>A (p.Cys1309Ter) c.3960C>A (p.Cys1320Ter) | dbSNP |
3 | g.38560304del | CA2499216734 | SCN5A | c.4085del (p.Cys1362SerfsTer11) c.4088del (p.Cys1363SerfsTer11) c.3926del (p.Cys1309SerfsTer11) c.3959del (p.Cys1320SerfsTer11) | ClinVar dbSNP |
3 | g.38560304C>A | CA352147070 | SCN5A | c.4085G>T (p.Cys1362Phe) c.4088G>T (p.Cys1363Phe) c.3926G>T (p.Cys1309Phe) c.3959G>T (p.Cys1320Phe) | |
3 | g.38560304C= | CA1358565714 | SCN5A | c.4085G= (p.Cys1362=) c.4088G= (p.Cys1363=) c.3926G= (p.Cys1309=) c.3959G= (p.Cys1320=) | |
3 | g.38560304C>G | CA352147072 | SCN5A | c.4085G>C (p.Cys1362Ser) c.4088G>C (p.Cys1363Ser) c.3926G>C (p.Cys1309Ser) c.3959G>C (p.Cys1320Ser) | |
3 | g.38560304C>T | CA017882 | SCN5A | c.4085G>A (p.Cys1362Tyr) c.4088G>A (p.Cys1363Tyr) c.3926G>A (p.Cys1309Tyr) c.3959G>A (p.Cys1320Tyr) | ClinVar dbSNP |
3 | g.38560305A>C | CA352147074 | SCN5A | c.4084T>G (p.Cys1362Gly) c.4087T>G (p.Cys1363Gly) c.3925T>G (p.Cys1309Gly) c.3958T>G (p.Cys1320Gly) | |
3 | g.38560305A>G | CA352147076 | SCN5A | c.4084T>C (p.Cys1362Arg) c.4087T>C (p.Cys1363Arg) c.3925T>C (p.Cys1309Arg) c.3958T>C (p.Cys1320Arg) | |
3 | g.38560305A>T | CA352147078 | SCN5A | c.4084T>A (p.Cys1362Ser) c.4087T>A (p.Cys1363Ser) c.3925T>A (p.Cys1309Ser) c.3958T>A (p.Cys1320Ser) | |
3 | g.38560306C>A | CA062817 | SCN5A | c.4083G>T (p.Arg1361Ser) c.4086G>T (p.Arg1362Ser) c.3924G>T (p.Arg1308Ser) c.3957G>T (p.Arg1319Ser) | dbSNP ExAC gnomAD v2 |
3 | g.38560306C= | CA1358565715 | SCN5A | c.4083G= (p.Arg1361=) c.4086G= (p.Arg1362=) c.3924G= (p.Arg1308=) c.3957G= (p.Arg1319=) | |
3 | g.38560306C>G | CA352147081 | SCN5A | c.4083G>C (p.Arg1361Ser) c.4086G>C (p.Arg1362Ser) c.3924G>C (p.Arg1308Ser) c.3957G>C (p.Arg1319Ser) | |
3 | g.38560306C>T | CA017877 | SCN5A | c.4083G>A (p.Arg1361=) c.4086G>A (p.Arg1362=) c.3924G>A (p.Arg1308=) c.3957G>A (p.Arg1319=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560307del | CA2586965774 | SCN5A | c.4083del (p.Arg1361SerfsTer12) c.4086del (p.Arg1362SerfsTer12) c.3924del (p.Arg1308SerfsTer12) c.3957del (p.Arg1319SerfsTer12) | |
3 | g.38560307C>A | CA352147088 | SCN5A | c.4082G>T (p.Arg1361Met) c.4085G>T (p.Arg1362Met) c.3923G>T (p.Arg1308Met) c.3956G>T (p.Arg1319Met) | |
3 | g.38560307C= | CA1358565716 | SCN5A | c.4082G= (p.Arg1361=) c.4085G= (p.Arg1362=) c.3923G= (p.Arg1308=) c.3956G= (p.Arg1319=) | |
3 | g.38560307C>G | CA352147084 | SCN5A | c.4082G>C (p.Arg1361Thr) c.4085G>C (p.Arg1362Thr) c.3923G>C (p.Arg1308Thr) c.3956G>C (p.Arg1319Thr) | |
3 | g.38560307C>T | CA352147086 | SCN5A | c.4082G>A (p.Arg1361Lys) c.4085G>A (p.Arg1362Lys) c.3923G>A (p.Arg1308Lys) c.3956G>A (p.Arg1319Lys) | ClinVar dbSNP gnomAD v4 |
3 | g.38560308T>A | CA352147089 | SCN5A | c.4081A>T (p.Arg1361Trp) c.4084A>T (p.Arg1362Trp) c.3922A>T (p.Arg1308Trp) c.3955A>T (p.Arg1319Trp) | |
3 | g.38560308T>C | CA352147090 | SCN5A | c.4081A>G (p.Arg1361Gly) c.4084A>G (p.Arg1362Gly) c.3922A>G (p.Arg1308Gly) c.3955A>G (p.Arg1319Gly) | |
3 | g.38560308T>G | CA433332427 | SCN5A | c.4081A>C (p.Arg1361=) c.4084A>C (p.Arg1362=) c.3922A>C (p.Arg1308=) c.3955A>C (p.Arg1319=) | |
3 | g.38560309C>A | CA433332428 | SCN5A | c.4080G>T (p.Gly1360=) c.4083G>T (p.Gly1361=) c.3921G>T (p.Gly1307=) c.3954G>T (p.Gly1318=) | |
3 | g.38560309C>G | CA433332429 | SCN5A | c.4080G>C (p.Gly1360=) c.4083G>C (p.Gly1361=) c.3921G>C (p.Gly1307=) c.3954G>C (p.Gly1318=) | |
3 | g.38560309C>T | CA433332430 | SCN5A | c.4080G>A (p.Gly1360=) c.4083G>A (p.Gly1361=) c.3921G>A (p.Gly1307=) c.3954G>A (p.Gly1318=) | |
3 | g.38560311del | CA2586965775 | SCN5A | c.4080del (p.Arg1361GlyfsTer12) c.4083del (p.Arg1362GlyfsTer12) c.3921del (p.Arg1308GlyfsTer12) c.3954del (p.Arg1319GlyfsTer12) | |
3 | g.38560310C>A | CA352147092 | SCN5A | c.4079G>T (p.Gly1360Val) c.4082G>T (p.Gly1361Val) c.3920G>T (p.Gly1307Val) c.3953G>T (p.Gly1318Val) | |
3 | g.38560310C>G | CA352147093 | SCN5A | c.4079G>C (p.Gly1360Ala) c.4082G>C (p.Gly1361Ala) c.3920G>C (p.Gly1307Ala) c.3953G>C (p.Gly1318Ala) | |
3 | g.38560310C>T | CA352147096 | SCN5A | c.4079G>A (p.Gly1360Glu) c.4082G>A (p.Gly1361Glu) c.3920G>A (p.Gly1307Glu) c.3953G>A (p.Gly1318Glu) | ClinVar dbSNP |
3 | g.38560311C>A | CA352147098 | SCN5A | c.4078G>T (p.Gly1360Trp) c.4081G>T (p.Gly1361Trp) c.3919G>T (p.Gly1307Trp) c.3952G>T (p.Gly1318Trp) | |
3 | g.38560311C>G | CA352147100 | SCN5A | c.4078G>C (p.Gly1360Arg) c.4081G>C (p.Gly1361Arg) c.3919G>C (p.Gly1307Arg) c.3952G>C (p.Gly1318Arg) | |
3 | g.38560311C>T | CA352147102 | SCN5A | c.4078G>A (p.Gly1360Arg) c.4081G>A (p.Gly1361Arg) c.3919G>A (p.Gly1307Arg) c.3952G>A (p.Gly1318Arg) | |
3 | g.38560312A>C | CA352147105 | SCN5A | c.4077T>G (p.Phe1359Leu) c.4080T>G (p.Phe1360Leu) c.3918T>G (p.Phe1306Leu) c.3951T>G (p.Phe1317Leu) | |
3 | g.38560312A>G | CA433332434 | SCN5A | c.4077T>C (p.Phe1359=) c.4080T>C (p.Phe1360=) c.3918T>C (p.Phe1306=) c.3951T>C (p.Phe1317=) | |
3 | g.38560312A>T | CA352147107 | SCN5A | c.4077T>A (p.Phe1359Leu) c.4080T>A (p.Phe1360Leu) c.3918T>A (p.Phe1306Leu) c.3951T>A (p.Phe1317Leu) | |
3 | g.38560313A= | CA1358565717 | SCN5A | c.4076T= (p.Phe1359=) c.4079T= (p.Phe1360=) c.3917T= (p.Phe1306=) c.3950T= (p.Phe1317=) | |
3 | g.38560313A>C | CA017864 | SCN5A | c.4076T>G (p.Phe1359Cys) c.4079T>G (p.Phe1360Cys) c.3917T>G (p.Phe1306Cys) c.3950T>G (p.Phe1317Cys) | ClinVar dbSNP |
3 | g.38560313A>G | CA352147114 | SCN5A | c.4076T>C (p.Phe1359Ser) c.4079T>C (p.Phe1360Ser) c.3917T>C (p.Phe1306Ser) c.3950T>C (p.Phe1317Ser) | ClinVar |
3 | g.38560313A>T | CA352147110 | SCN5A | c.4076T>A (p.Phe1359Tyr) c.4079T>A (p.Phe1360Tyr) c.3917T>A (p.Phe1306Tyr) c.3950T>A (p.Phe1317Tyr) | |
3 | g.38560314A>C | CA352147118 | SCN5A | c.4075T>G (p.Phe1359Val) c.4078T>G (p.Phe1360Val) c.3916T>G (p.Phe1306Val) c.3949T>G (p.Phe1317Val) | |
3 | g.38560314A>G | CA352147119 | SCN5A | c.4075T>C (p.Phe1359Leu) c.4078T>C (p.Phe1360Leu) c.3916T>C (p.Phe1306Leu) c.3949T>C (p.Phe1317Leu) | |
3 | g.38560314A>T | CA352147121 | SCN5A | c.4075T>A (p.Phe1359Ile) c.4078T>A (p.Phe1360Ile) c.3916T>A (p.Phe1306Ile) c.3949T>A (p.Phe1317Ile) | |
3 | g.38560315C>A | CA017858 | SCN5A | c.4074G>T (p.Lys1358Asn) c.4077G>T (p.Lys1359Asn) c.3915G>T (p.Lys1305Asn) c.3948G>T (p.Lys1316Asn) | ClinVar dbSNP |
3 | g.38560315C= | CA1358565718 | SCN5A | c.4074G= (p.Lys1358=) c.4077G= (p.Lys1359=) c.3915G= (p.Lys1305=) c.3948G= (p.Lys1316=) | |
3 | g.38560315C>G | CA352147126 | SCN5A | c.4074G>C (p.Lys1358Asn) c.4077G>C (p.Lys1359Asn) c.3915G>C (p.Lys1305Asn) c.3948G>C (p.Lys1316Asn) | |
3 | g.38560315C>T | CA062806 | SCN5A | c.4074G>A (p.Lys1358=) c.4077G>A (p.Lys1359=) c.3915G>A (p.Lys1305=) c.3948G>A (p.Lys1316=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560316T>A | CA062799 | SCN5A | c.4073A>T (p.Lys1358Met) c.4076A>T (p.Lys1359Met) c.3914A>T (p.Lys1305Met) c.3947A>T (p.Lys1316Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560316T>C | CA352147134 | SCN5A | c.4073A>G (p.Lys1358Arg) c.4076A>G (p.Lys1359Arg) c.3914A>G (p.Lys1305Arg) c.3947A>G (p.Lys1316Arg) | |
3 | g.38560316T>G | CA352147136 | SCN5A | c.4073A>C (p.Lys1358Thr) c.4076A>C (p.Lys1359Thr) c.3914A>C (p.Lys1305Thr) c.3947A>C (p.Lys1316Thr) | ClinVar dbSNP |
3 | g.38560316T= | CA1358565719 | SCN5A | c.4073A= (p.Lys1358=) c.4076A= (p.Lys1359=) c.3914A= (p.Lys1305=) c.3947A= (p.Lys1316=) | |
3 | g.38560317T>A | CA352147138 | SCN5A | c.4072A>T (p.Lys1358Ter) c.4075A>T (p.Lys1359Ter) c.3913A>T (p.Lys1305Ter) c.3946A>T (p.Lys1316Ter) | dbSNP |
3 | g.38560317T>C | CA352147141 | SCN5A | c.4072A>G (p.Lys1358Glu) c.4075A>G (p.Lys1359Glu) c.3913A>G (p.Lys1305Glu) c.3946A>G (p.Lys1316Glu) | |
3 | g.38560317T>G | CA352147144 | SCN5A | c.4072A>C (p.Lys1358Gln) c.4075A>C (p.Lys1359Gln) c.3913A>C (p.Lys1305Gln) c.3946A>C (p.Lys1316Gln) | |
3 | g.38560317T= | CA1358565720 | SCN5A | c.4072A= (p.Lys1358=) c.4075A= (p.Lys1359=) c.3913A= (p.Lys1305=) c.3946A= (p.Lys1316=) | |
3 | g.38560318C>A | CA433332442 | SCN5A | c.4071G>T (p.Gly1357=) c.4074G>T (p.Gly1358=) c.3912G>T (p.Gly1304=) c.3945G>T (p.Gly1315=) | |
3 | g.38560318C= | CA1358565721 | SCN5A | c.4071G= (p.Gly1357=) c.4074G= (p.Gly1358=) c.3912G= (p.Gly1304=) c.3945G= (p.Gly1315=) | |
3 | g.38560318C>G | CA433332443 | SCN5A | c.4071G>C (p.Gly1357=) c.4074G>C (p.Gly1358=) c.3912G>C (p.Gly1304=) c.3945G>C (p.Gly1315=) | |
3 | g.38560318C>T | CA062794 | SCN5A | c.4071G>A (p.Gly1357=) c.4074G>A (p.Gly1358=) c.3912G>A (p.Gly1304=) c.3945G>A (p.Gly1315=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560319C>A | CA352147160 | SCN5A | c.4070G>T (p.Gly1357Val) c.4073G>T (p.Gly1358Val) c.3911G>T (p.Gly1304Val) c.3944G>T (p.Gly1315Val) | |
3 | g.38560319C= | CA1358565722 | SCN5A | c.4070G= (p.Gly1357=) c.4073G= (p.Gly1358=) c.3911G= (p.Gly1304=) c.3944G= (p.Gly1315=) | |
3 | g.38560319C>G | CA352147158 | SCN5A | c.4070G>C (p.Gly1357Ala) c.4073G>C (p.Gly1358Ala) c.3911G>C (p.Gly1304Ala) c.3944G>C (p.Gly1315Ala) | |
3 | g.38560319C>T | CA352147155 | SCN5A | c.4070G>A (p.Gly1357Glu) c.4073G>A (p.Gly1358Glu) c.3911G>A (p.Gly1304Glu) c.3944G>A (p.Gly1315Glu) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560320C>A | CA017852 | SCN5A | c.4069G>T (p.Gly1357Trp) c.4072G>T (p.Gly1358Trp) c.3910G>T (p.Gly1304Trp) c.3943G>T (p.Gly1315Trp) | ClinVar dbSNP |
3 | g.38560320C= | CA1358565723 | SCN5A | c.4069G= (p.Gly1357=) c.4072G= (p.Gly1358=) c.3910G= (p.Gly1304=) c.3943G= (p.Gly1315=) | |
3 | g.38560320C>G | CA352147166 | SCN5A | c.4069G>C (p.Gly1357Arg) c.4072G>C (p.Gly1358Arg) c.3910G>C (p.Gly1304Arg) c.3943G>C (p.Gly1315Arg) | |
3 | g.38560320C>T | CA352147167 | SCN5A | c.4069G>A (p.Gly1357Arg) c.4072G>A (p.Gly1358Arg) c.3910G>A (p.Gly1304Arg) c.3943G>A (p.Gly1315Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560321C>A | CA433332444 | SCN5A | c.4068G>T (p.Ala1356=) c.4071G>T (p.Ala1357=) c.3909G>T (p.Ala1303=) c.3942G>T (p.Ala1314=) | gnomAD v3 gnomAD v4 |
3 | g.38560321C= | CA1358565724 | SCN5A | c.4068G= (p.Ala1356=) c.4071G= (p.Ala1357=) c.3909G= (p.Ala1303=) c.3942G= (p.Ala1314=) | |
3 | g.38560321C>G | CA433332445 | SCN5A | c.4068G>C (p.Ala1356=) c.4071G>C (p.Ala1357=) c.3909G>C (p.Ala1303=) c.3942G>C (p.Ala1314=) | ClinVar dbSNP |
3 | g.38560321C>T | CA062789 | SCN5A | c.4068G>A (p.Ala1356=) c.4071G>A (p.Ala1357=) c.3909G>A (p.Ala1303=) c.3942G>A (p.Ala1314=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560322G>A | CA017845 | SCN5A | c.4067C>T (p.Ala1356Val) c.4070C>T (p.Ala1357Val) c.3908C>T (p.Ala1303Val) c.3941C>T (p.Ala1314Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560322G>C | CA352147173 | SCN5A | c.4067C>G (p.Ala1356Gly) c.4070C>G (p.Ala1357Gly) c.3908C>G (p.Ala1303Gly) c.3941C>G (p.Ala1314Gly) | gnomAD v4 |
3 | g.38560322G= | CA1358565725 | SCN5A | c.4067C= (p.Ala1356=) c.4070C= (p.Ala1357=) c.3908C= (p.Ala1303=) c.3941C= (p.Ala1314=) | |
3 | g.38560322G>T | CA352147176 | SCN5A | c.4067C>A (p.Ala1356Glu) c.4070C>A (p.Ala1357Glu) c.3908C>A (p.Ala1303Glu) c.3941C>A (p.Ala1314Glu) | gnomAD v4 |
3 | g.38560323C>A | CA352147177 | SCN5A | c.4066G>T (p.Ala1356Ser) c.4069G>T (p.Ala1357Ser) c.3907G>T (p.Ala1303Ser) c.3940G>T (p.Ala1314Ser) | gnomAD v4 |
3 | g.38560323C>G | CA352147178 | SCN5A | c.4066G>C (p.Ala1356Pro) c.4069G>C (p.Ala1357Pro) c.3907G>C (p.Ala1303Pro) c.3940G>C (p.Ala1314Pro) | |
3 | g.38560323C>T | CA352147179 | SCN5A | c.4066G>A (p.Ala1356Thr) c.4069G>A (p.Ala1357Thr) c.3907G>A (p.Ala1303Thr) c.3940G>A (p.Ala1314Thr) | |
3 | g.38560324A= | CA1358565726 | SCN5A | c.4065T= (p.Phe1355=) c.4068T= (p.Phe1356=) c.3906T= (p.Phe1302=) c.3939T= (p.Phe1313=) | |
3 | g.38560324A>C | CA352147182 | SCN5A | c.4065T>G (p.Phe1355Leu) c.4068T>G (p.Phe1356Leu) c.3906T>G (p.Phe1302Leu) c.3939T>G (p.Phe1313Leu) | |
3 | g.38560324A>G | CA433332446 | SCN5A | c.4065T>C (p.Phe1355=) c.4068T>C (p.Phe1356=) c.3906T>C (p.Phe1302=) c.3939T>C (p.Phe1313=) | ClinVar dbSNP |
3 | g.38560324A>T | CA352147184 | SCN5A | c.4065T>A (p.Phe1355Leu) c.4068T>A (p.Phe1356Leu) c.3906T>A (p.Phe1302Leu) c.3939T>A (p.Phe1313Leu) | |
3 | g.38560325_38560326del | CA2586965778 | SCN5A | c.4064_4065del (p.Phe1355CysfsTer29) c.4067_4068del (p.Phe1356CysfsTer29) c.3905_3906del (p.Phe1302CysfsTer29) c.3938_3939del (p.Phe1313CysfsTer29) | |
3 | g.38560325A>C | CA352147189 | SCN5A | c.4064T>G (p.Phe1355Cys) c.4067T>G (p.Phe1356Cys) c.3905T>G (p.Phe1302Cys) c.3938T>G (p.Phe1313Cys) | |
3 | g.38560325A>G | CA352147188 | SCN5A | c.4064T>C (p.Phe1355Ser) c.4067T>C (p.Phe1356Ser) c.3905T>C (p.Phe1302Ser) c.3938T>C (p.Phe1313Ser) | |
3 | g.38560325A>T | CA352147186 | SCN5A | c.4064T>A (p.Phe1355Tyr) c.4067T>A (p.Phe1356Tyr) c.3905T>A (p.Phe1302Tyr) c.3938T>A (p.Phe1313Tyr) | |
3 | g.38560326A>C | CA352147192 | SCN5A | c.4063T>G (p.Phe1355Val) c.4066T>G (p.Phe1356Val) c.3904T>G (p.Phe1302Val) c.3937T>G (p.Phe1313Val) | |
3 | g.38560326A>G | CA352147208 | SCN5A | c.4063T>C (p.Phe1355Leu) c.4066T>C (p.Phe1356Leu) c.3904T>C (p.Phe1302Leu) c.3937T>C (p.Phe1313Leu) | |
3 | g.38560326A>T | CA352147195 | SCN5A | c.4063T>A (p.Phe1355Ile) c.4066T>A (p.Phe1356Ile) c.3904T>A (p.Phe1302Ile) c.3937T>A (p.Phe1313Ile) | |
3 | g.38560327G>A | CA72944832 | SCN5A | c.4062C>T (p.Leu1354=) c.4065C>T (p.Leu1355=) c.3903C>T (p.Leu1301=) c.3936C>T (p.Leu1312=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560327G>C | CA433332447 | SCN5A | c.4062C>G (p.Leu1354=) c.4065C>G (p.Leu1355=) c.3903C>G (p.Leu1301=) c.3936C>G (p.Leu1312=) | |
3 | g.38560327G= | CA1358565727 | SCN5A | c.4062C= (p.Leu1354=) c.4065C= (p.Leu1355=) c.3903C= (p.Leu1301=) c.3936C= (p.Leu1312=) | |
3 | g.38560327G>T | CA433332448 | SCN5A | c.4062C>A (p.Leu1354=) c.4065C>A (p.Leu1355=) c.3903C>A (p.Leu1301=) c.3936C>A (p.Leu1312=) | |
3 | g.38560328A= | CA1358565728 | SCN5A | c.4061T= (p.Leu1354=) c.4064T= (p.Leu1355=) c.3902T= (p.Leu1301=) c.3935T= (p.Leu1312=) | |
3 | g.38560328A>C | CA352147211 | SCN5A | c.4061T>G (p.Leu1354Arg) c.4064T>G (p.Leu1355Arg) c.3902T>G (p.Leu1301Arg) c.3935T>G (p.Leu1312Arg) | |
3 | g.38560328A>G | CA352147218 | SCN5A | c.4061T>C (p.Leu1354Pro) c.4064T>C (p.Leu1355Pro) c.3902T>C (p.Leu1301Pro) c.3935T>C (p.Leu1312Pro) | ClinVar dbSNP |
3 | g.38560328A>T | CA352147214 | SCN5A | c.4061T>A (p.Leu1354His) c.4064T>A (p.Leu1355His) c.3902T>A (p.Leu1301His) c.3935T>A (p.Leu1312His) | |
3 | g.38560328_38560332dup | CA2665111487 | SCN5A | c.4057_4061dup (p.Phe1355ThrfsTer20) c.4060_4064dup (p.Phe1356ThrfsTer20) c.3898_3902dup (p.Phe1302ThrfsTer20) c.3931_3935dup (p.Phe1313ThrfsTer20) | gnomAD v4 |
3 | g.38560329G>A | CA352147219 | SCN5A | c.4060C>T (p.Leu1354Phe) c.4063C>T (p.Leu1355Phe) c.3901C>T (p.Leu1301Phe) c.3934C>T (p.Leu1312Phe) | |
3 | g.38560329G>C | CA352147223 | SCN5A | c.4060C>G (p.Leu1354Val) c.4063C>G (p.Leu1355Val) c.3901C>G (p.Leu1301Val) c.3934C>G (p.Leu1312Val) | |
3 | g.38560329G>T | CA352147220 | SCN5A | c.4060C>A (p.Leu1354Ile) c.4063C>A (p.Leu1355Ile) c.3901C>A (p.Leu1301Ile) c.3934C>A (p.Leu1312Ile) | |
3 | g.38560329_38560330delinsGG | CA1358565729 | SCN5A | c.4059_4060delinsCC (p.Asn1353=) c.4062_4063delinsCC (p.Asn1354=) c.3900_3901delinsCC (p.Asn1300=) c.3933_3934delinsCC (p.Asn1311=) | |
3 | g.38560329_38560330delinsTT | CA1139657974 | SCN5A | c.4059_4060delinsAA (p.Asn1353_Leu1354delinsLysIle) c.4062_4063delinsAA (p.Asn1354_Leu1355delinsLysIle) c.3900_3901delinsAA (p.Asn1300_Leu1301delinsLysIle) c.3933_3934delinsAA (p.Asn1311_Leu1312delinsLysIle) | ClinVar dbSNP |
3 | g.38560330G>A | CA433332450 | SCN5A | c.4059C>T (p.Asn1353=) c.4062C>T (p.Asn1354=) c.3900C>T (p.Asn1300=) c.3933C>T (p.Asn1311=) | |
3 | g.38560330G>C | CA352147227 | SCN5A | c.4059C>G (p.Asn1353Lys) c.4062C>G (p.Asn1354Lys) c.3900C>G (p.Asn1300Lys) c.3933C>G (p.Asn1311Lys) | |
3 | g.38560330G= | CA1358565730 | SCN5A | c.4059C= (p.Asn1353=) c.4062C= (p.Asn1354=) c.3900C= (p.Asn1300=) c.3933C= (p.Asn1311=) | |
3 | g.38560330G>T | CA352147230 | SCN5A | c.4059C>A (p.Asn1353Lys) c.4062C>A (p.Asn1354Lys) c.3900C>A (p.Asn1300Lys) c.3933C>A (p.Asn1311Lys) | dbSNP |
3 | g.38560331T>A | CA352147231 | SCN5A | c.4058A>T (p.Asn1353Ile) c.4061A>T (p.Asn1354Ile) c.3899A>T (p.Asn1300Ile) c.3932A>T (p.Asn1311Ile) | |
3 | g.38560331T>C | CA352147233 | SCN5A | c.4058A>G (p.Asn1353Ser) c.4061A>G (p.Asn1354Ser) c.3899A>G (p.Asn1300Ser) c.3932A>G (p.Asn1311Ser) | COSMIC COSMIC COSMIC |
3 | g.38560331T>G | CA352147235 | SCN5A | c.4058A>C (p.Asn1353Thr) c.4061A>C (p.Asn1354Thr) c.3899A>C (p.Asn1300Thr) c.3932A>C (p.Asn1311Thr) | COSMIC COSMIC COSMIC |
3 | g.38560332T>A | CA352147236 | SCN5A | c.4057A>T (p.Asn1353Tyr) c.4060A>T (p.Asn1354Tyr) c.3898A>T (p.Asn1300Tyr) c.3931A>T (p.Asn1311Tyr) | |
3 | g.38560332T>C | CA352147238 | SCN5A | c.4057A>G (p.Asn1353Asp) c.4060A>G (p.Asn1354Asp) c.3898A>G (p.Asn1300Asp) c.3931A>G (p.Asn1311Asp) | |
3 | g.38560332T>G | CA72944835 | SCN5A | c.4057A>C (p.Asn1353His) c.4060A>C (p.Asn1354His) c.3898A>C (p.Asn1300His) c.3931A>C (p.Asn1311His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560332T= | CA1358565731 | SCN5A | c.4057A= (p.Asn1353=) c.4060A= (p.Asn1354=) c.3898A= (p.Asn1300=) c.3931A= (p.Asn1311=) | |
3 | g.38560333C>A | CA433332451 | SCN5A | c.4056G>T (p.Val1352=) c.4059G>T (p.Val1353=) c.3897G>T (p.Val1299=) c.3930G>T (p.Val1310=) | ClinVar |
3 | g.38560333C= | CA1358565732 | SCN5A | c.4056G= (p.Val1352=) c.4059G= (p.Val1353=) c.3897G= (p.Val1299=) c.3930G= (p.Val1310=) | |
3 | g.38560333C>G | CA433332452 | SCN5A | c.4056G>C (p.Val1352=) c.4059G>C (p.Val1353=) c.3897G>C (p.Val1299=) c.3930G>C (p.Val1310=) | |
3 | g.38560333C>T | CA062777 | SCN5A | c.4056G>A (p.Val1352=) c.4059G>A (p.Val1353=) c.3897G>A (p.Val1299=) c.3930G>A (p.Val1310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560334A>C | CA352147243 | SCN5A | c.4055T>G (p.Val1352Gly) c.4058T>G (p.Val1353Gly) c.3896T>G (p.Val1299Gly) c.3929T>G (p.Val1310Gly) | |
3 | g.38560334A>G | CA352147246 | SCN5A | c.4055T>C (p.Val1352Ala) c.4058T>C (p.Val1353Ala) c.3896T>C (p.Val1299Ala) c.3929T>C (p.Val1310Ala) | |
3 | g.38560334A>T | CA352147248 | SCN5A | c.4055T>A (p.Val1352Glu) c.4058T>A (p.Val1353Glu) c.3896T>A (p.Val1299Glu) c.3929T>A (p.Val1310Glu) | |
3 | g.38560335C>A | CA352147250 | SCN5A | c.4054G>T (p.Val1352Leu) c.4057G>T (p.Val1353Leu) c.3895G>T (p.Val1299Leu) c.3928G>T (p.Val1310Leu) | |
3 | g.38560335C= | CA1358565733 | SCN5A | c.4054G= (p.Val1352=) c.4057G= (p.Val1353=) c.3895G= (p.Val1299=) c.3928G= (p.Val1310=) | |
3 | g.38560335C>G | CA352147252 | SCN5A | c.4054G>C (p.Val1352Leu) c.4057G>C (p.Val1353Leu) c.3895G>C (p.Val1299Leu) c.3928G>C (p.Val1310Leu) | |
3 | g.38560335C>T | CA017837 | SCN5A | c.4054G>A (p.Val1352Met) c.4057G>A (p.Val1353Met) c.3895G>A (p.Val1299Met) c.3928G>A (p.Val1310Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.38560336G>A | CA017831 | SCN5A | c.4053C>T (p.Gly1351=) c.4056C>T (p.Gly1352=) c.3894C>T (p.Gly1298=) c.3927C>T (p.Gly1309=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560336G>C | CA433332456 | SCN5A | c.4053C>G (p.Gly1351=) c.4056C>G (p.Gly1352=) c.3894C>G (p.Gly1298=) c.3927C>G (p.Gly1309=) | |
3 | g.38560336G= | CA1358565734 | SCN5A | c.4053C= (p.Gly1351=) c.4056C= (p.Gly1352=) c.3894C= (p.Gly1298=) c.3927C= (p.Gly1309=) | |
3 | g.38560336G>T | CA433332457 | SCN5A | c.4053C>A (p.Gly1351=) c.4056C>A (p.Gly1352=) c.3894C>A (p.Gly1298=) c.3927C>A (p.Gly1309=) | |
3 | g.38560337C>A | CA352147256 | SCN5A | c.4052G>T (p.Gly1351Val) c.4055G>T (p.Gly1352Val) c.3893G>T (p.Gly1298Val) c.3926G>T (p.Gly1309Val) | |
3 | g.38560337C>G | CA352147259 | SCN5A | c.4052G>C (p.Gly1351Ala) c.4055G>C (p.Gly1352Ala) c.3893G>C (p.Gly1298Ala) c.3926G>C (p.Gly1309Ala) | |
3 | g.38560337C>T | CA352147261 | SCN5A | c.4052G>A (p.Gly1351Asp) c.4055G>A (p.Gly1352Asp) c.3893G>A (p.Gly1298Asp) c.3926G>A (p.Gly1309Asp) | |
3 | g.38560338C>A | CA352147263 | SCN5A | c.4051G>T (p.Gly1351Cys) c.4054G>T (p.Gly1352Cys) c.3892G>T (p.Gly1298Cys) c.3925G>T (p.Gly1309Cys) | |
3 | g.38560338C>G | CA352147269 | SCN5A | c.4051G>C (p.Gly1351Arg) c.4054G>C (p.Gly1352Arg) c.3892G>C (p.Gly1298Arg) c.3925G>C (p.Gly1309Arg) | |
3 | g.38560338C>T | CA352147271 | SCN5A | c.4051G>A (p.Gly1351Ser) c.4054G>A (p.Gly1352Ser) c.3892G>A (p.Gly1298Ser) c.3925G>A (p.Gly1309Ser) | |
3 | g.38560339C>A | CA352147274 | SCN5A | c.4050G>T (p.Met1350Ile) c.4053G>T (p.Met1351Ile) c.3891G>T (p.Met1297Ile) c.3924G>T (p.Met1308Ile) | ClinVar |
3 | g.38560339C>G | CA352147276 | SCN5A | c.4050G>C (p.Met1350Ile) c.4053G>C (p.Met1351Ile) c.3891G>C (p.Met1297Ile) c.3924G>C (p.Met1308Ile) | |
3 | g.38560339C>T | CA352147278 | SCN5A | c.4050G>A (p.Met1350Ile) c.4053G>A (p.Met1351Ile) c.3891G>A (p.Met1297Ile) c.3924G>A (p.Met1308Ile) | |
3 | g.38560340A= | CA1358565735 | SCN5A | c.4049T= (p.Met1350=) c.4052T= (p.Met1351=) c.3890T= (p.Met1297=) c.3923T= (p.Met1308=) | |
3 | g.38560340A>C | CA017824 | SCN5A | c.4049T>G (p.Met1350Arg) c.4052T>G (p.Met1351Arg) c.3890T>G (p.Met1297Arg) c.3923T>G (p.Met1308Arg) | ClinVar dbSNP |
3 | g.38560340A>G | CA352147281 | SCN5A | c.4049T>C (p.Met1350Thr) c.4052T>C (p.Met1351Thr) c.3890T>C (p.Met1297Thr) c.3923T>C (p.Met1308Thr) | |
3 | g.38560340A>T | CA352147282 | SCN5A | c.4049T>A (p.Met1350Lys) c.4052T>A (p.Met1351Lys) c.3890T>A (p.Met1297Lys) c.3923T>A (p.Met1308Lys) | |
3 | g.38560341T>A | CA352147288 | SCN5A | c.4048A>T (p.Met1350Leu) c.4051A>T (p.Met1351Leu) c.3889A>T (p.Met1297Leu) c.3922A>T (p.Met1308Leu) | |
3 | g.38560341T>C | CA352147287 | SCN5A | c.4048A>G (p.Met1350Val) c.4051A>G (p.Met1351Val) c.3889A>G (p.Met1297Val) c.3922A>G (p.Met1308Val) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560341T>G | CA352147285 | SCN5A | c.4048A>C (p.Met1350Leu) c.4051A>C (p.Met1351Leu) c.3889A>C (p.Met1297Leu) c.3922A>C (p.Met1308Leu) | |
3 | g.38560341T= | CA1358565736 | SCN5A | c.4048A= (p.Met1350=) c.4051A= (p.Met1351=) c.3889A= (p.Met1297=) c.3922A= (p.Met1308=) | |
3 | g.38560342G>A | CA433332461 | SCN5A | c.4047C>T (p.Ile1349=) c.4050C>T (p.Ile1350=) c.3888C>T (p.Ile1296=) c.3921C>T (p.Ile1307=) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38560342G>C | CA352147290 | SCN5A | c.4047C>G (p.Ile1349Met) c.4050C>G (p.Ile1350Met) c.3888C>G (p.Ile1296Met) c.3921C>G (p.Ile1307Met) | |
3 | g.38560342G= | CA1358565737 | SCN5A | c.4047C= (p.Ile1349=) c.4050C= (p.Ile1350=) c.3888C= (p.Ile1296=) c.3921C= (p.Ile1307=) | |
3 | g.38560342G>T | CA433332462 | SCN5A | c.4047C>A (p.Ile1349=) c.4050C>A (p.Ile1350=) c.3888C>A (p.Ile1296=) c.3921C>A (p.Ile1307=) | |
3 | g.38560343A= | CA1358565738 | SCN5A | c.4046T= (p.Ile1349=) c.4049T= (p.Ile1350=) c.3887T= (p.Ile1296=) c.3920T= (p.Ile1307=) | |
3 | g.38560343A>C | CA352147293 | SCN5A | c.4046T>G (p.Ile1349Ser) c.4049T>G (p.Ile1350Ser) c.3887T>G (p.Ile1296Ser) c.3920T>G (p.Ile1307Ser) | |
3 | g.38560343A>G | CA017817 | SCN5A | c.4046T>C (p.Ile1349Thr) c.4049T>C (p.Ile1350Thr) c.3887T>C (p.Ile1296Thr) c.3920T>C (p.Ile1307Thr) | ClinVar dbSNP gnomAD v4 |
3 | g.38560343A>T | CA352147294 | SCN5A | c.4046T>A (p.Ile1349Asn) c.4049T>A (p.Ile1350Asn) c.3887T>A (p.Ile1296Asn) c.3920T>A (p.Ile1307Asn) | |
3 | g.38560344T>A | CA352147296 | SCN5A | c.4045A>T (p.Ile1349Phe) c.4048A>T (p.Ile1350Phe) c.3886A>T (p.Ile1296Phe) c.3919A>T (p.Ile1307Phe) | ClinVar dbSNP |
3 | g.38560344T>C | CA352147298 | SCN5A | c.4045A>G (p.Ile1349Val) c.4048A>G (p.Ile1350Val) c.3886A>G (p.Ile1296Val) c.3919A>G (p.Ile1307Val) | |
3 | g.38560344T>G | CA062762 | SCN5A | c.4045A>C (p.Ile1349Leu) c.4048A>C (p.Ile1350Leu) c.3886A>C (p.Ile1296Leu) c.3919A>C (p.Ile1307Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560344T= | CA1358565739 | SCN5A | c.4045A= (p.Ile1349=) c.4048A= (p.Ile1350=) c.3886A= (p.Ile1296=) c.3919A= (p.Ile1307=) | |
3 | g.38560345G>A | CA433332466 | SCN5A | c.4044C>T (p.Ser1348=) c.4047C>T (p.Ser1349=) c.3885C>T (p.Ser1295=) c.3918C>T (p.Ser1306=) | ClinVar dbSNP gnomAD v4 |
3 | g.38560345G>C | CA352147301 | SCN5A | c.4044C>G (p.Ser1348Arg) c.4047C>G (p.Ser1349Arg) c.3885C>G (p.Ser1295Arg) c.3918C>G (p.Ser1306Arg) | |
3 | g.38560345G= | CA1358565740 | SCN5A | c.4044C= (p.Ser1348=) c.4047C= (p.Ser1349=) c.3885C= (p.Ser1295=) c.3918C= (p.Ser1306=) | |
3 | g.38560345G>T | CA352147303 | SCN5A | c.4044C>A (p.Ser1348Arg) c.4047C>A (p.Ser1349Arg) c.3885C>A (p.Ser1295Arg) c.3918C>A (p.Ser1306Arg) | |
3 | g.38560346C>A | CA352147313 | SCN5A | c.4043G>T (p.Ser1348Ile) c.4046G>T (p.Ser1349Ile) c.3884G>T (p.Ser1295Ile) c.3917G>T (p.Ser1306Ile) | |
3 | g.38560346C>G | CA352147314 | SCN5A | c.4043G>C (p.Ser1348Thr) c.4046G>C (p.Ser1349Thr) c.3884G>C (p.Ser1295Thr) c.3917G>C (p.Ser1306Thr) | |
3 | g.38560346C>T | CA352147316 | SCN5A | c.4043G>A (p.Ser1348Asn) c.4046G>A (p.Ser1349Asn) c.3884G>A (p.Ser1295Asn) c.3917G>A (p.Ser1306Asn) | gnomAD v4 |
3 | g.38560346_38560358delinsA | CA2739278200 | SCN5A | c.4031_4043delinsT (p.Trp1344_Ser1348delinsPhe) c.4034_4046delinsT (p.Trp1345_Ser1349delinsPhe) c.3872_3884delinsT (p.Trp1291_Ser1295delinsPhe) c.3905_3917delinsT (p.Trp1302_Ser1306delinsPhe) | ClinVar |
3 | g.38560347_38560358del | CA2573136263 | SCN5A | c.4032_4043del (p.Trp1344_Ser1348delinsCys) c.4035_4046del (p.Trp1345_Ser1349delinsCys) c.3873_3884del (p.Trp1291_Ser1295delinsCys) c.3906_3917del (p.Trp1302_Ser1306delinsCys) | dbSNP |
3 | g.38560347T>A | CA352147324 | SCN5A | c.4042A>T (p.Ser1348Cys) c.4045A>T (p.Ser1349Cys) c.3883A>T (p.Ser1295Cys) c.3916A>T (p.Ser1306Cys) | |
3 | g.38560347T>C | CA352147321 | SCN5A | c.4042A>G (p.Ser1348Gly) c.4045A>G (p.Ser1349Gly) c.3883A>G (p.Ser1295Gly) c.3916A>G (p.Ser1306Gly) | |
3 | g.38560347T>G | CA352147319 | SCN5A | c.4042A>C (p.Ser1348Arg) c.4045A>C (p.Ser1349Arg) c.3883A>C (p.Ser1295Arg) c.3916A>C (p.Ser1306Arg) | |
3 | g.38560348G>A | CA062758 | SCN5A | c.4041C>T (p.Phe1347=) c.4044C>T (p.Phe1348=) c.3882C>T (p.Phe1294=) c.3915C>T (p.Phe1305=) | dbSNP ExAC gnomAD v2 |
3 | g.38560348G>C | CA352147328 | SCN5A | c.4041C>G (p.Phe1347Leu) c.4044C>G (p.Phe1348Leu) c.3882C>G (p.Phe1294Leu) c.3915C>G (p.Phe1305Leu) | |
3 | g.38560348G= | CA1358565741 | SCN5A | c.4041C= (p.Phe1347=) c.4044C= (p.Phe1348=) c.3882C= (p.Phe1294=) c.3915C= (p.Phe1305=) | |
3 | g.38560348G>T | CA352147332 | SCN5A | c.4041C>A (p.Phe1347Leu) c.4044C>A (p.Phe1348Leu) c.3882C>A (p.Phe1294Leu) c.3915C>A (p.Phe1305Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560357_38560368del | CA2755901968 | SCN5A | c.4030_4041del (p.Trp1344_Phe1347del) c.4033_4044del (p.Trp1345_Phe1348del) c.3871_3882del (p.Trp1291_Phe1294del) c.3904_3915del (p.Trp1302_Phe1305del) | |
3 | g.38560349A>C | CA352147335 | SCN5A | c.4040T>G (p.Phe1347Cys) c.4043T>G (p.Phe1348Cys) c.3881T>G (p.Phe1294Cys) c.3914T>G (p.Phe1305Cys) | |
3 | g.38560349A>G | CA352147337 | SCN5A | c.4040T>C (p.Phe1347Ser) c.4043T>C (p.Phe1348Ser) c.3881T>C (p.Phe1294Ser) c.3914T>C (p.Phe1305Ser) | |
3 | g.38560349A>T | CA352147340 | SCN5A | c.4040T>A (p.Phe1347Tyr) c.4043T>A (p.Phe1348Tyr) c.3881T>A (p.Phe1294Tyr) c.3914T>A (p.Phe1305Tyr) | |
3 | g.38560350A>C | CA352147343 | SCN5A | c.4039T>G (p.Phe1347Val) c.4042T>G (p.Phe1348Val) c.3880T>G (p.Phe1294Val) c.3913T>G (p.Phe1305Val) | |
3 | g.38560350A>G | CA352147345 | SCN5A | c.4039T>C (p.Phe1347Leu) c.4042T>C (p.Phe1348Leu) c.3880T>C (p.Phe1294Leu) c.3913T>C (p.Phe1305Leu) | |
3 | g.38560350A>T | CA352147353 | SCN5A | c.4039T>A (p.Phe1347Ile) c.4042T>A (p.Phe1348Ile) c.3880T>A (p.Phe1294Ile) c.3913T>A (p.Phe1305Ile) | |
3 | g.38560351G>A | CA433332468 | SCN5A | c.4038C>T (p.Ile1346=) c.4041C>T (p.Ile1347=) c.3879C>T (p.Ile1293=) c.3912C>T (p.Ile1304=) | |
3 | g.38560351G>C | CA352147356 | SCN5A | c.4038C>G (p.Ile1346Met) c.4041C>G (p.Ile1347Met) c.3879C>G (p.Ile1293Met) c.3912C>G (p.Ile1304Met) | |
3 | g.38560351G>T | CA433332467 | SCN5A | c.4038C>A (p.Ile1346=) c.4041C>A (p.Ile1347=) c.3879C>A (p.Ile1293=) c.3912C>A (p.Ile1304=) | |
3 | g.38560352A>C | CA352147357 | SCN5A | c.4037T>G (p.Ile1346Ser) c.4040T>G (p.Ile1347Ser) c.3878T>G (p.Ile1293Ser) c.3911T>G (p.Ile1304Ser) | |
3 | g.38560352A>G | CA352147360 | SCN5A | c.4037T>C (p.Ile1346Thr) c.4040T>C (p.Ile1347Thr) c.3878T>C (p.Ile1293Thr) c.3911T>C (p.Ile1304Thr) | ClinVar |
3 | g.38560352A>T | CA352147362 | SCN5A | c.4037T>A (p.Ile1346Asn) c.4040T>A (p.Ile1347Asn) c.3878T>A (p.Ile1293Asn) c.3911T>A (p.Ile1304Asn) | |
3 | g.38560353T>A | CA352147366 | SCN5A | c.4036A>T (p.Ile1346Phe) c.4039A>T (p.Ile1347Phe) c.3877A>T (p.Ile1293Phe) c.3910A>T (p.Ile1304Phe) | |
3 | g.38560353T>C | CA352147369 | SCN5A | c.4036A>G (p.Ile1346Val) c.4039A>G (p.Ile1347Val) c.3877A>G (p.Ile1293Val) c.3910A>G (p.Ile1304Val) | |
3 | g.38560353T>G | CA352147364 | SCN5A | c.4036A>C (p.Ile1346Leu) c.4039A>C (p.Ile1347Leu) c.3877A>C (p.Ile1293Leu) c.3910A>C (p.Ile1304Leu) | |
3 | g.38560354G>A | CA433332471 | SCN5A | c.4035C>T (p.Leu1345=) c.4038C>T (p.Leu1346=) c.3876C>T (p.Leu1292=) c.3909C>T (p.Leu1303=) | |
3 | g.38560354G>C | CA433332470 | SCN5A | c.4035C>G (p.Leu1345=) c.4038C>G (p.Leu1346=) c.3876C>G (p.Leu1292=) c.3909C>G (p.Leu1303=) | |
3 | g.38560354G>T | CA433332469 | SCN5A | c.4035C>A (p.Leu1345=) c.4038C>A (p.Leu1346=) c.3876C>A (p.Leu1292=) c.3909C>A (p.Leu1303=) | |
3 | g.38560355_38560356del | CA2586965782 | SCN5A | c.4034_4035del (p.Leu1345HisfsTer?) c.4037_4038del (p.Leu1346HisfsTer?) c.3875_3876del (p.Leu1292HisfsTer?) c.3908_3909del (p.Leu1303HisfsTer?) | |
3 | g.38560355A= | CA1358565742 | SCN5A | c.4034T= (p.Leu1345=) c.4037T= (p.Leu1346=) c.3875T= (p.Leu1292=) c.3908T= (p.Leu1303=) | |
3 | g.38560355A>C | CA352147370 | SCN5A | c.4034T>G (p.Leu1345Arg) c.4037T>G (p.Leu1346Arg) c.3875T>G (p.Leu1292Arg) c.3908T>G (p.Leu1303Arg) | |
3 | g.38560355A>G | CA017808 | SCN5A | c.4034T>C (p.Leu1345Pro) c.4037T>C (p.Leu1346Pro) c.3875T>C (p.Leu1292Pro) c.3908T>C (p.Leu1303Pro) | ClinVar dbSNP |
3 | g.38560355A>T | CA352147373 | SCN5A | c.4034T>A (p.Leu1345His) c.4037T>A (p.Leu1346His) c.3875T>A (p.Leu1292His) c.3908T>A (p.Leu1303His) | |
3 | g.38560356G>A | CA352147374 | SCN5A | c.4033C>T (p.Leu1345Phe) c.4036C>T (p.Leu1346Phe) c.3874C>T (p.Leu1292Phe) c.3907C>T (p.Leu1303Phe) | |
3 | g.38560356G>C | CA352147375 | SCN5A | c.4033C>G (p.Leu1345Val) c.4036C>G (p.Leu1346Val) c.3874C>G (p.Leu1292Val) c.3907C>G (p.Leu1303Val) | |
3 | g.38560356G= | CA1358565743 | SCN5A | c.4033C= (p.Leu1345=) c.4036C= (p.Leu1346=) c.3874C= (p.Leu1292=) c.3907C= (p.Leu1303=) | |
3 | g.38560356G>T | CA017802 | SCN5A | c.4033C>A (p.Leu1345Ile) c.4036C>A (p.Leu1346Ile) c.3874C>A (p.Leu1292Ile) c.3907C>A (p.Leu1303Ile) | ClinVar dbSNP gnomAD v4 |
3 | g.38560356_38560357delinsGC | CA1358565744 | SCN5A | c.4032_4033delinsGC (p.Trp1344=) c.4035_4036delinsGC (p.Trp1345=) c.3873_3874delinsGC (p.Trp1291=) c.3906_3907delinsGC (p.Trp1302=) | |
3 | g.38560357C>A | CA017796 | SCN5A | c.4032G>T (p.Trp1344Cys) c.4035G>T (p.Trp1345Cys) c.3873G>T (p.Trp1291Cys) c.3906G>T (p.Trp1302Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
3 | g.38560357C= | CA1358565745 | SCN5A | c.4032G= (p.Trp1344=) c.4035G= (p.Trp1345=) c.3873G= (p.Trp1291=) c.3906G= (p.Trp1302=) | |
3 | g.38560357C>G | CA352147380 | SCN5A | c.4032G>C (p.Trp1344Cys) c.4035G>C (p.Trp1345Cys) c.3873G>C (p.Trp1291Cys) c.3906G>C (p.Trp1302Cys) | |
3 | g.38560357C>T | CA017787 | SCN5A | c.4032G>A (p.Trp1344Ter) c.4035G>A (p.Trp1345Ter) c.3873G>A (p.Trp1291Ter) c.3906G>A (p.Trp1302Ter) | ClinVar dbSNP gnomAD v4 |
3 | g.38560358del | CA906900360 | SCN5A | c.4032del (p.Trp1344CysfsTer9) c.4035del (p.Trp1345CysfsTer9) c.3873del (p.Trp1291CysfsTer9) c.3906del (p.Trp1302CysfsTer9) | dbSNP |
3 | g.38560358C>A | CA352147387 | SCN5A | c.4031G>T (p.Trp1344Leu) c.4034G>T (p.Trp1345Leu) c.3872G>T (p.Trp1291Leu) c.3905G>T (p.Trp1302Leu) | |
3 | g.38560358C>G | CA352147389 | SCN5A | c.4031G>C (p.Trp1344Ser) c.4034G>C (p.Trp1345Ser) c.3872G>C (p.Trp1291Ser) c.3905G>C (p.Trp1302Ser) | |
3 | g.38560358C>T | CA352147392 | SCN5A | c.4031G>A (p.Trp1344Ter) c.4034G>A (p.Trp1345Ter) c.3872G>A (p.Trp1291Ter) c.3905G>A (p.Trp1302Ter) | |
3 | g.38560359A>C | CA352147394 | SCN5A | c.4030T>G (p.Trp1344Gly) c.4033T>G (p.Trp1345Gly) c.3871T>G (p.Trp1291Gly) c.3904T>G (p.Trp1302Gly) | |
3 | g.38560359A>G | CA352147396 | SCN5A | c.4030T>C (p.Trp1344Arg) c.4033T>C (p.Trp1345Arg) c.3871T>C (p.Trp1291Arg) c.3904T>C (p.Trp1302Arg) | |
3 | g.38560359A>T | CA352147401 | SCN5A | c.4030T>A (p.Trp1344Arg) c.4033T>A (p.Trp1345Arg) c.3871T>A (p.Trp1291Arg) c.3904T>A (p.Trp1302Arg) | |
3 | g.38560360G>A | CA433332472 | SCN5A | c.4029C>T (p.Phe1343=) c.4032C>T (p.Phe1344=) c.3870C>T (p.Phe1290=) c.3903C>T (p.Phe1301=) | |
3 | g.38560360G>C | CA352147403 | SCN5A | c.4029C>G (p.Phe1343Leu) c.4032C>G (p.Phe1344Leu) c.3870C>G (p.Phe1290Leu) c.3903C>G (p.Phe1301Leu) | gnomAD v4 |
3 | g.38560360G>T | CA352147404 | SCN5A | c.4029C>A (p.Phe1343Leu) c.4032C>A (p.Phe1344Leu) c.3870C>A (p.Phe1290Leu) c.3903C>A (p.Phe1301Leu) | |
3 | g.38560361A= | CA1358565746 | SCN5A | c.4028T= (p.Phe1343=) c.4031T= (p.Phe1344=) c.3869T= (p.Phe1290=) c.3902T= (p.Phe1301=) | |
3 | g.38560361A>C | CA352147407 | SCN5A | c.4028T>G (p.Phe1343Cys) c.4031T>G (p.Phe1344Cys) c.3869T>G (p.Phe1290Cys) c.3902T>G (p.Phe1301Cys) | |
3 | g.38560361A>G | CA017779 | SCN5A | c.4028T>C (p.Phe1343Ser) c.4031T>C (p.Phe1344Ser) c.3869T>C (p.Phe1290Ser) c.3902T>C (p.Phe1301Ser) | ClinVar dbSNP |
3 | g.38560361A>T | CA352147410 | SCN5A | c.4028T>A (p.Phe1343Tyr) c.4031T>A (p.Phe1344Tyr) c.3869T>A (p.Phe1290Tyr) c.3902T>A (p.Phe1301Tyr) | |
3 | g.38560362A= | CA1358565747 | SCN5A | c.4027T= (p.Phe1343=) c.4030T= (p.Phe1344=) c.3868T= (p.Phe1290=) c.3901T= (p.Phe1301=) | |
3 | g.38560362A>C | CA352147412 | SCN5A | c.4027T>G (p.Phe1343Val) c.4030T>G (p.Phe1344Val) c.3868T>G (p.Phe1290Val) c.3901T>G (p.Phe1301Val) | |
3 | g.38560362A>G | CA017772 | SCN5A | c.4027T>C (p.Phe1343Leu) c.4030T>C (p.Phe1344Leu) c.3868T>C (p.Phe1290Leu) c.3901T>C (p.Phe1301Leu) | ClinVar dbSNP |
3 | g.38560362A>T | CA352147414 | SCN5A | c.4027T>A (p.Phe1343Ile) c.4030T>A (p.Phe1344Ile) c.3868T>A (p.Phe1290Ile) c.3901T>A (p.Phe1301Ile) | gnomAD v4 |
3 | g.38560363G>A | CA433332473 | SCN5A | c.4026C>T (p.Ile1342=) c.4029C>T (p.Ile1343=) c.3867C>T (p.Ile1289=) c.3900C>T (p.Ile1300=) | |
3 | g.38560363G>C | CA352147416 | SCN5A | c.4026C>G (p.Ile1342Met) c.4029C>G (p.Ile1343Met) c.3867C>G (p.Ile1289Met) c.3900C>G (p.Ile1300Met) | |
3 | g.38560363G>T | CA433332474 | SCN5A | c.4026C>A (p.Ile1342=) c.4029C>A (p.Ile1343=) c.3867C>A (p.Ile1289=) c.3900C>A (p.Ile1300=) | ClinVar |
3 | g.38560364A>C | CA352147418 | SCN5A | c.4025T>G (p.Ile1342Ser) c.4028T>G (p.Ile1343Ser) c.3866T>G (p.Ile1289Ser) c.3899T>G (p.Ile1300Ser) | |
3 | g.38560364A>G | CA352147421 | SCN5A | c.4025T>C (p.Ile1342Thr) c.4028T>C (p.Ile1343Thr) c.3866T>C (p.Ile1289Thr) c.3899T>C (p.Ile1300Thr) | |
3 | g.38560364A>T | CA352147423 | SCN5A | c.4025T>A (p.Ile1342Asn) c.4028T>A (p.Ile1343Asn) c.3866T>A (p.Ile1289Asn) c.3899T>A (p.Ile1300Asn) | |
3 | g.38560365T>A | CA352147427 | SCN5A | c.4024A>T (p.Ile1342Phe) c.4027A>T (p.Ile1343Phe) c.3865A>T (p.Ile1289Phe) c.3898A>T (p.Ile1300Phe) | |
3 | g.38560365T>C | CA352147425 | SCN5A | c.4024A>G (p.Ile1342Val) c.4027A>G (p.Ile1343Val) c.3865A>G (p.Ile1289Val) c.3898A>G (p.Ile1300Val) | |
3 | g.38560365T>G | CA352147424 | SCN5A | c.4024A>C (p.Ile1342Leu) c.4027A>C (p.Ile1343Leu) c.3865A>C (p.Ile1289Leu) c.3898A>C (p.Ile1300Leu) | |
3 | g.38560366G>A | CA433332475 | SCN5A | c.4023C>T (p.Leu1341=) c.4026C>T (p.Leu1342=) c.3864C>T (p.Leu1288=) c.3897C>T (p.Leu1299=) | gnomAD v4 |
3 | g.38560366G>C | CA433332476 | SCN5A | c.4023C>G (p.Leu1341=) c.4026C>G (p.Leu1342=) c.3864C>G (p.Leu1288=) c.3897C>G (p.Leu1299=) | |
3 | g.38560366G>T | CA433332477 | SCN5A | c.4023C>A (p.Leu1341=) c.4026C>A (p.Leu1342=) c.3864C>A (p.Leu1288=) c.3897C>A (p.Leu1299=) | |
3 | g.38560367A>C | CA352147429 | SCN5A | c.4022T>G (p.Leu1341Arg) c.4025T>G (p.Leu1342Arg) c.3863T>G (p.Leu1288Arg) c.3896T>G (p.Leu1299Arg) | |
3 | g.38560367A>G | CA352147431 | SCN5A | c.4022T>C (p.Leu1341Pro) c.4025T>C (p.Leu1342Pro) c.3863T>C (p.Leu1288Pro) c.3896T>C (p.Leu1299Pro) | |
3 | g.38560367A>T | CA352147432 | SCN5A | c.4022T>A (p.Leu1341His) c.4025T>A (p.Leu1342His) c.3863T>A (p.Leu1288His) c.3896T>A (p.Leu1299His) | |
3 | g.38560368G>A | CA16611264 | SCN5A | c.4021C>T (p.Leu1341Phe) c.4024C>T (p.Leu1342Phe) c.3862C>T (p.Leu1288Phe) c.3895C>T (p.Leu1299Phe) | ClinVar dbSNP |
3 | g.38560368G>C | CA352147435 | SCN5A | c.4021C>G (p.Leu1341Val) c.4024C>G (p.Leu1342Val) c.3862C>G (p.Leu1288Val) c.3895C>G (p.Leu1299Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38560368G= | CA1358565748 | SCN5A | c.4021C= (p.Leu1341=) c.4024C= (p.Leu1342=) c.3862C= (p.Leu1288=) c.3895C= (p.Leu1299=) | |
3 | g.38560368G>T | CA352147438 | SCN5A | c.4021C>A (p.Leu1341Ile) c.4024C>A (p.Leu1342Ile) c.3862C>A (p.Leu1288Ile) c.3895C>A (p.Leu1299Ile) | |
3 | g.38560369G>A | CA433332478 | SCN5A | c.4020C>T (p.Cys1340=) c.4023C>T (p.Cys1341=) c.3861C>T (p.Cys1287=) c.3894C>T (p.Cys1298=) | |
3 | g.38560369G>C | CA352147439 | SCN5A | c.4020C>G (p.Cys1340Trp) c.4023C>G (p.Cys1341Trp) c.3861C>G (p.Cys1287Trp) c.3894C>G (p.Cys1298Trp) | |
3 | g.38560369G= | CA1358565749 | SCN5A | c.4020C= (p.Cys1340=) c.4023C= (p.Cys1341=) c.3861C= (p.Cys1287=) c.3894C= (p.Cys1298=) | |
3 | g.38560369G>T | CA352147440 | SCN5A | c.4020C>A (p.Cys1340Ter) c.4023C>A (p.Cys1341Ter) c.3861C>A (p.Cys1287Ter) c.3894C>A (p.Cys1298Ter) | dbSNP |
3 | g.38560370C>A | CA352147442 | SCN5A | c.4019G>T (p.Cys1340Phe) c.4022G>T (p.Cys1341Phe) c.3860G>T (p.Cys1287Phe) c.3893G>T (p.Cys1298Phe) | |
3 | g.38560370C>G | CA352147443 | SCN5A | c.4019G>C (p.Cys1340Ser) c.4022G>C (p.Cys1341Ser) c.3860G>C (p.Cys1287Ser) c.3893G>C (p.Cys1298Ser) | |
3 | g.38560370C>T | CA352147444 | SCN5A | c.4019G>A (p.Cys1340Tyr) c.4022G>A (p.Cys1341Tyr) c.3860G>A (p.Cys1287Tyr) c.3893G>A (p.Cys1298Tyr) | |
3 | g.38560371A>C | CA352147449 | SCN5A | c.4018T>G (p.Cys1340Gly) c.4021T>G (p.Cys1341Gly) c.3859T>G (p.Cys1287Gly) c.3892T>G (p.Cys1298Gly) | |
3 | g.38560371A>G | CA352147447 | SCN5A | c.4018T>C (p.Cys1340Arg) c.4021T>C (p.Cys1341Arg) c.3859T>C (p.Cys1287Arg) c.3892T>C (p.Cys1298Arg) | ClinVar dbSNP |
3 | g.38560371A>T | CA352147446 | SCN5A | c.4018T>A (p.Cys1340Ser) c.4021T>A (p.Cys1341Ser) c.3859T>A (p.Cys1287Ser) c.3892T>A (p.Cys1298Ser) | |
3 | g.38560372G>A | CA433332480 | SCN5A | c.4017C>T (p.Val1339=) c.4020C>T (p.Val1340=) c.3858C>T (p.Val1286=) c.3891C>T (p.Val1297=) | |
3 | g.38560372G>C | CA433332481 | SCN5A | c.4017C>G (p.Val1339=) c.4020C>G (p.Val1340=) c.3858C>G (p.Val1286=) c.3891C>G (p.Val1297=) | |
3 | g.38560372G>T | CA433332479 | SCN5A | c.4017C>A (p.Val1339=) c.4020C>A (p.Val1340=) c.3858C>A (p.Val1286=) c.3891C>A (p.Val1297=) | |
3 | g.38560373A>C | CA352147451 | SCN5A | c.4016T>G (p.Val1339Gly) c.4019T>G (p.Val1340Gly) c.3857T>G (p.Val1286Gly) c.3890T>G (p.Val1297Gly) | |
3 | g.38560373A>G | CA352147453 | SCN5A | c.4016T>C (p.Val1339Ala) c.4019T>C (p.Val1340Ala) c.3857T>C (p.Val1286Ala) c.3890T>C (p.Val1297Ala) | |
3 | g.38560373A>T | CA352147455 | SCN5A | c.4016T>A (p.Val1339Asp) c.4019T>A (p.Val1340Asp) c.3857T>A (p.Val1286Asp) c.3890T>A (p.Val1297Asp) | |
3 | g.38560374C>A | CA352147457 | SCN5A | c.4015G>T (p.Val1339Phe) c.4018G>T (p.Val1340Phe) c.3856G>T (p.Val1286Phe) c.3889G>T (p.Val1297Phe) | |
3 | g.38560374C= | CA1358565751 | SCN5A | c.4015G= (p.Val1339=) c.4018G= (p.Val1340=) c.3856G= (p.Val1286=) c.3889G= (p.Val1297=) | |
3 | g.38560374C>G | CA10587574 | SCN5A | c.4015G>C (p.Val1339Leu) c.4018G>C (p.Val1340Leu) c.3856G>C (p.Val1286Leu) c.3889G>C (p.Val1297Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38560374C>T | CA017761 | SCN5A | c.4015G>A (p.Val1339Ile) c.4018G>A (p.Val1340Ile) c.3856G>A (p.Val1286Ile) c.3889G>A (p.Val1297Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560374_38560377delinsCGAG | CA1358565750 | SCN5A | c.4012_4015delinsCTCG (p.Leu1338=) c.4015_4018delinsCTCG (p.Leu1339=) c.3853_3856delinsCTCG (p.Leu1285=) c.3886_3889delinsCTCG (p.Leu1296=) | |
3 | g.38560375G>A | CA72944906 | SCN5A | c.4014C>T (p.Leu1338=) c.4017C>T (p.Leu1339=) c.3855C>T (p.Leu1285=) c.3888C>T (p.Leu1296=) | ClinVar dbSNP gnomAD v4 |
3 | g.38560375G>C | CA433332482 | SCN5A | c.4014C>G (p.Leu1338=) c.4017C>G (p.Leu1339=) c.3855C>G (p.Leu1285=) c.3888C>G (p.Leu1296=) | |
3 | g.38560375G= | CA1358565752 | SCN5A | c.4014C= (p.Leu1338=) c.4017C= (p.Leu1339=) c.3855C= (p.Leu1285=) c.3888C= (p.Leu1296=) | |
3 | g.38560375G>T | CA433332483 | SCN5A | c.4014C>A (p.Leu1338=) c.4017C>A (p.Leu1339=) c.3855C>A (p.Leu1285=) c.3888C>A (p.Leu1296=) | |
3 | g.38560380_38560382del | CA542615541 | SCN5A | c.4012_4014del (p.Leu1338del) c.4015_4017del (p.Leu1339del) c.3853_3855del (p.Leu1285del) c.3886_3888del (p.Leu1296del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560376A>C | CA352147465 | SCN5A | c.4013T>G (p.Leu1338Arg) c.4016T>G (p.Leu1339Arg) c.3854T>G (p.Leu1285Arg) c.3887T>G (p.Leu1296Arg) | |
3 | g.38560376A>G | CA352147468 | SCN5A | c.4013T>C (p.Leu1338Pro) c.4016T>C (p.Leu1339Pro) c.3854T>C (p.Leu1285Pro) c.3887T>C (p.Leu1296Pro) | |
3 | g.38560376A>T | CA352147470 | SCN5A | c.4013T>A (p.Leu1338His) c.4016T>A (p.Leu1339His) c.3854T>A (p.Leu1285His) c.3887T>A (p.Leu1296His) | |
3 | g.38560377G>A | CA352147474 | SCN5A | c.4012C>T (p.Leu1338Phe) c.4015C>T (p.Leu1339Phe) c.3853C>T (p.Leu1285Phe) c.3886C>T (p.Leu1296Phe) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560377G>C | CA352147475 | SCN5A | c.4012C>G (p.Leu1338Val) c.4015C>G (p.Leu1339Val) c.3853C>G (p.Leu1285Val) c.3886C>G (p.Leu1296Val) | |
3 | g.38560377G= | CA1358565753 | SCN5A | c.4012C= (p.Leu1338=) c.4015C= (p.Leu1339=) c.3853C= (p.Leu1285=) c.3886C= (p.Leu1296=) | |
3 | g.38560377G>T | CA352147478 | SCN5A | c.4012C>A (p.Leu1338Ile) c.4015C>A (p.Leu1339Ile) c.3853C>A (p.Leu1285Ile) c.3886C>A (p.Leu1296Ile) | |
3 | g.38560378G>A | CA433332484 | SCN5A | c.4011C>T (p.Leu1337=) c.4014C>T (p.Leu1338=) c.3852C>T (p.Leu1284=) c.3885C>T (p.Leu1295=) | |
3 | g.38560378G>C | CA433332485 | SCN5A | c.4011C>G (p.Leu1337=) c.4014C>G (p.Leu1338=) c.3852C>G (p.Leu1284=) c.3885C>G (p.Leu1295=) | gnomAD v4 |
3 | g.38560378G>T | CA433332486 | SCN5A | c.4011C>A (p.Leu1337=) c.4014C>A (p.Leu1338=) c.3852C>A (p.Leu1284=) c.3885C>A (p.Leu1295=) | |
3 | g.38560379A>C | CA352147482 | SCN5A | c.4010T>G (p.Leu1337Arg) c.4013T>G (p.Leu1338Arg) c.3851T>G (p.Leu1284Arg) c.3884T>G (p.Leu1295Arg) | |
3 | g.38560379A>G | CA352147484 | SCN5A | c.4010T>C (p.Leu1337Pro) c.4013T>C (p.Leu1338Pro) c.3851T>C (p.Leu1284Pro) c.3884T>C (p.Leu1295Pro) | |
3 | g.38560379A>T | CA352147480 | SCN5A | c.4010T>A (p.Leu1337His) c.4013T>A (p.Leu1338His) c.3851T>A (p.Leu1284His) c.3884T>A (p.Leu1295His) | |
3 | g.38560380G>A | CA352147488 | SCN5A | c.4009C>T (p.Leu1337Phe) c.4012C>T (p.Leu1338Phe) c.3850C>T (p.Leu1284Phe) c.3883C>T (p.Leu1295Phe) | gnomAD v4 |
3 | g.38560380G>C | CA017753 | SCN5A | c.4009C>G (p.Leu1337Val) c.4012C>G (p.Leu1338Val) c.3850C>G (p.Leu1284Val) c.3883C>G (p.Leu1295Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38560380G= | CA1358565754 | SCN5A | c.4009C= (p.Leu1337=) c.4012C= (p.Leu1338=) c.3850C= (p.Leu1284=) c.3883C= (p.Leu1295=) | |
3 | g.38560380G>T | CA352147487 | SCN5A | c.4009C>A (p.Leu1337Ile) c.4012C>A (p.Leu1338Ile) c.3850C>A (p.Leu1284Ile) c.3883C>A (p.Leu1295Ile) | COSMIC |
3 | g.38560381G>A | CA433332487 | SCN5A | c.4008C>T (p.Val1336=) c.4011C>T (p.Val1337=) c.3849C>T (p.Val1283=) c.3882C>T (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>C | CA433332488 | SCN5A | c.4008C>G (p.Val1336=) c.4011C>G (p.Val1337=) c.3849C>G (p.Val1283=) c.3882C>G (p.Val1294=) | gnomAD v4 |
3 | g.38560381G>T | CA433332489 | SCN5A | c.4008C>A (p.Val1336=) c.4011C>A (p.Val1337=) c.3849C>A (p.Val1283=) c.3882C>A (p.Val1294=) | |
3 | g.38560382A>C | CA352147490 | SCN5A | c.4007T>G (p.Val1336Gly) c.4010T>G (p.Val1337Gly) c.3848T>G (p.Val1283Gly) c.3881T>G (p.Val1294Gly) | |
3 | g.38560382A>G | CA352147492 | SCN5A | c.4007T>C (p.Val1336Ala) c.4010T>C (p.Val1337Ala) c.3848T>C (p.Val1283Ala) c.3881T>C (p.Val1294Ala) | |
3 | g.38560382A>T | CA352147494 | SCN5A | c.4007T>A (p.Val1336Asp) c.4010T>A (p.Val1337Asp) c.3848T>A (p.Val1283Asp) c.3881T>A (p.Val1294Asp) | |
3 | g.38560383C>A | CA352147501 | SCN5A | c.4006G>T (p.Val1336Phe) c.4009G>T (p.Val1337Phe) c.3847G>T (p.Val1283Phe) c.3880G>T (p.Val1294Phe) | |
3 | g.38560383C= | CA1358565755 | SCN5A | c.4006G= (p.Val1336=) c.4009G= (p.Val1337=) c.3847G= (p.Val1283=) c.3880G= (p.Val1294=) | |
3 | g.38560383C>G | CA352147498 | SCN5A | c.4006G>C (p.Val1336Leu) c.4009G>C (p.Val1337Leu) c.3847G>C (p.Val1283Leu) c.3880G>C (p.Val1294Leu) | |
3 | g.38560383C>T | CA352147496 | SCN5A | c.4006G>A (p.Val1336Ile) c.4009G>A (p.Val1337Ile) c.3847G>A (p.Val1283Ile) c.3880G>A (p.Val1294Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38560384G>A | CA062720 | SCN5A | c.4005C>T (p.Asn1335=) c.4008C>T (p.Asn1336=) c.3846C>T (p.Asn1282=) c.3879C>T (p.Asn1293=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38560384G>C | CA352147504 | SCN5A | c.4005C>G (p.Asn1335Lys) c.4008C>G (p.Asn1336Lys) c.3846C>G (p.Asn1282Lys) c.3879C>G (p.Asn1293Lys) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38560384G= | CA1358565756 | SCN5A | c.4005C= (p.Asn1335=) c.4008C= (p.Asn1336=) c.3846C= (p.Asn1282=) c.3879C= (p.Asn1293=) | |
3 | g.38560384G>T | CA352147506 | SCN5A | c.4005C>A (p.Asn1335Lys) c.4008C>A (p.Asn1336Lys) c.3846C>A (p.Asn1282Lys) c.3879C>A (p.Asn1293Lys) | |
3 | g.38560385T>A | CA352147508 | SCN5A | c.4004A>T (p.Asn1335Ile) c.4007A>T (p.Asn1336Ile) c.3845A>T (p.Asn1282Ile) c.3878A>T (p.Asn1293Ile) | |
3 | g.38560385T>C | CA352147510 | SCN5A | c.4004A>G (p.Asn1335Ser) c.4007A>G (p.Asn1336Ser) c.3845A>G (p.Asn1282Ser) c.3878A>G (p.Asn1293Ser) | |
3 | g.38560385T>G | CA352147512 | SCN5A | c.4004A>C (p.Asn1335Thr) c.4007A>C (p.Asn1336Thr) c.3845A>C (p.Asn1282Thr) c.3878A>C (p.Asn1293Thr) | |
3 | g.38560386T>A | CA352147519 | SCN5A | c.4003A>T (p.Asn1335Tyr) c.4006A>T (p.Asn1336Tyr) c.3844A>T (p.Asn1282Tyr) c.3877A>T (p.Asn1293Tyr) | |
3 | g.38560386T>C | CA352147513 | SCN5A | c.4003A>G (p.Asn1335Asp) c.4006A>G (p.Asn1336Asp) c.3844A>G (p.Asn1282Asp) c.3877A>G (p.Asn1293Asp) | |
3 | g.38560386T>G | CA352147515 | SCN5A | c.4003A>C (p.Asn1335His) c.4006A>C (p.Asn1336His) c.3844A>C (p.Asn1282His) c.3877A>C (p.Asn1293His) | |
3 | g.38560387C>A | CA352147521 | SCN5A | c.4002G>T (p.Met1334Ile) c.4005G>T (p.Met1335Ile) c.3843G>T (p.Met1281Ile) c.3876G>T (p.Met1292Ile) | |
3 | g.38560387C>G | CA352147522 | SCN5A | c.4002G>C (p.Met1334Ile) c.4005G>C (p.Met1335Ile) c.3843G>C (p.Met1281Ile) c.3876G>C (p.Met1292Ile) | |
3 | g.38560387C>T | CA352147524 | SCN5A | c.4002G>A (p.Met1334Ile) c.4005G>A (p.Met1335Ile) c.3843G>A (p.Met1281Ile) c.3876G>A (p.Met1292Ile) | COSMIC COSMIC COSMIC |
3 | g.38560388A= | CA1358565757 | SCN5A | c.4001T= (p.Met1334=) c.4004T= (p.Met1335=) c.3842T= (p.Met1281=) c.3875T= (p.Met1292=) | |
3 | g.38560388A>C | CA352147527 | SCN5A | c.4001T>G (p.Met1334Arg) c.4004T>G (p.Met1335Arg) c.3842T>G (p.Met1281Arg) c.3875T>G (p.Met1292Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38560388A>G | CA352147529 | SCN5A | c.4001T>C (p.Met1334Thr) c.4004T>C (p.Met1335Thr) c.3842T>C (p.Met1281Thr) c.3875T>C (p.Met1292Thr) | |
3 | g.38560388A>T | CA352147530 | SCN5A | c.4001T>A (p.Met1334Lys) c.4004T>A (p.Met1335Lys) c.3842T>A (p.Met1281Lys) c.3875T>A (p.Met1292Lys) | |
3 | g.38560389T>A | CA352147532 | SCN5A | c.4000A>T (p.Met1334Leu) c.4003A>T (p.Met1335Leu) c.3841A>T (p.Met1281Leu) c.3874A>T (p.Met1292Leu) | |
3 | g.38560389T>C | CA72944913 | SCN5A | c.4000A>G (p.Met1334Val) c.4003A>G (p.Met1335Val) c.3841A>G (p.Met1281Val) c.3874A>G (p.Met1292Val) | ClinVar dbSNP gnomAD v4 |
3 | g.38560389T>G | CA352147534 | SCN5A | c.4000A>C (p.Met1334Leu) c.4003A>C (p.Met1335Leu) c.3841A>C (p.Met1281Leu) c.3874A>C (p.Met1292Leu) | gnomAD v4 |
3 | g.38560389T= | CA1358565758 | SCN5A | c.4000A= (p.Met1334=) c.4003A= (p.Met1335=) c.3841A= (p.Met1281=) c.3874A= (p.Met1292=) | |
3 | g.38560390G>A | CA433332405 | SCN5A | c.3999C>T (p.Ile1333=) c.4002C>T (p.Ile1334=) c.3840C>T (p.Ile1280=) c.3873C>T (p.Ile1291=) | ClinVar dbSNP |
3 | g.38560390G>C | CA352147536 | SCN5A | c.3999C>G (p.Ile1333Met) c.4002C>G (p.Ile1334Met) c.3840C>G (p.Ile1280Met) c.3873C>G (p.Ile1291Met) | |
3 | g.38560390G= | CA1358565759 | SCN5A | c.3999C= (p.Ile1333=) c.4002C= (p.Ile1334=) c.3840C= (p.Ile1280=) c.3873C= (p.Ile1291=) | |
3 | g.38560390G>T | CA433332407 | SCN5A | c.3999C>A (p.Ile1333=) c.4002C>A (p.Ile1334=) c.3840C>A (p.Ile1280=) c.3873C>A (p.Ile1291=) | |
3 | g.38560390_38560391dup | CA2665111488 | SCN5A | c.3998_3999dup (p.Met1334SerfsTer2) c.4001_4002dup (p.Met1335SerfsTer2) c.3839_3840dup (p.Met1281SerfsTer2) c.3872_3873dup (p.Met1292SerfsTer2) | gnomAD v4 |
3 | g.38560391A>C | CA352147540 | SCN5A | c.3998T>G (p.Ile1333Ser) c.4001T>G (p.Ile1334Ser) c.3839T>G (p.Ile1280Ser) c.3872T>G (p.Ile1291Ser) | |
3 | g.38560391A>G | CA352147541 | SCN5A | c.3998T>C (p.Ile1333Thr) c.4001T>C (p.Ile1334Thr) c.3839T>C (p.Ile1280Thr) c.3872T>C (p.Ile1291Thr) | |
3 | g.38560391A>T | CA352147542 | SCN5A | c.3998T>A (p.Ile1333Asn) c.4001T>A (p.Ile1334Asn) c.3839T>A (p.Ile1280Asn) c.3872T>A (p.Ile1291Asn) |