OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38581073T>A | CA352139553 | SCN5A | c.3086A>T (p.Glu1029Val) c.2957A>T (p.Glu986Val) | |
| 3 | g.38581073T>C | CA352139551 | SCN5A | c.3086A>G (p.Glu1029Gly) c.2957A>G (p.Glu986Gly) | |
| 3 | g.38581073T>G | CA352139550 | SCN5A | c.3086A>C (p.Glu1029Ala) c.2957A>C (p.Glu986Ala) | |
| 3 | g.38581074C>A | CA352139555 | SCN5A | c.3085G>T (p.Glu1029Ter) c.2956G>T (p.Glu986Ter) | dbSNP |
| 3 | g.38581074C= | CA1358576465 | SCN5A | c.3085G= (p.Glu1029=) c.2956G= (p.Glu986=) | |
| 3 | g.38581074C>G | CA352139557 | SCN5A | c.3085G>C (p.Glu1029Gln) c.2956G>C (p.Glu986Gln) | |
| 3 | g.38581074C>T | CA16617949 | SCN5A | c.3085G>A (p.Glu1029Lys) c.2956G>A (p.Glu986Lys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581075A>C | CA352139560 | SCN5A | c.3084T>G (p.Phe1028Leu) c.2955T>G (p.Phe985Leu) | |
| 3 | g.38581075A>G | CA433135367 | SCN5A | c.3084T>C (p.Phe1028=) c.2955T>C (p.Phe985=) | |
| 3 | g.38581075A>T | CA352139561 | SCN5A | c.3084T>A (p.Phe1028Leu) c.2955T>A (p.Phe985Leu) | |
| 3 | g.38581076A>C | CA352139563 | SCN5A | c.3083T>G (p.Phe1028Cys) c.2954T>G (p.Phe985Cys) | gnomAD v4 |
| 3 | g.38581076A>G | CA352139565 | SCN5A | c.3083T>C (p.Phe1028Ser) c.2954T>C (p.Phe985Ser) | |
| 3 | g.38581076A>T | CA352139567 | SCN5A | c.3083T>A (p.Phe1028Tyr) c.2954T>A (p.Phe985Tyr) | |
| 3 | g.38581077A>C | CA352139570 | SCN5A | c.3082T>G (p.Phe1028Val) c.2953T>G (p.Phe985Val) | gnomAD v3 gnomAD v4 |
| 3 | g.38581077A>G | CA352139571 | SCN5A | c.3082T>C (p.Phe1028Leu) c.2953T>C (p.Phe985Leu) | |
| 3 | g.38581077A>T | CA352139573 | SCN5A | c.3082T>A (p.Phe1028Ile) c.2953T>A (p.Phe985Ile) | |
| 3 | g.38581077_38581078delinsAC | CA1358576469 | SCN5A | c.3081_3082delinsGT (p.Arg1027=) c.2952_2953delinsGT (p.Arg984=) | |
| 3 | g.38581078C>A | CA433135374 | SCN5A | c.3081G>T (p.Arg1027=) c.2952G>T (p.Arg984=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581078C= | CA1358576474 | SCN5A | c.3081G= (p.Arg1027=) c.2952G= (p.Arg984=) | |
| 3 | g.38581078C>G | CA433135376 | SCN5A | c.3081G>C (p.Arg1027=) c.2952G>C (p.Arg984=) | |
| 3 | g.38581078C>T | CA72926234 | SCN5A | c.3081G>A (p.Arg1027=) c.2952G>A (p.Arg984=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581079del | CA658657284 | SCN5A | c.3081del (p.Phe1028LeufsTer?) c.2952del (p.Phe985LeufsTer?) | ClinVar dbSNP |
| 3 | g.38581079C>A | CA352139577 | SCN5A | c.3080G>T (p.Arg1027Leu) c.2951G>T (p.Arg984Leu) | gnomAD v4 |
| 3 | g.38581079C= | CA1358576480 | SCN5A | c.3080G= (p.Arg1027=) c.2951G= (p.Arg984=) | |
| 3 | g.38581079C>G | CA72926239 | SCN5A | c.3080G>C (p.Arg1027Pro) c.2951G>C (p.Arg984Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581079C>T | CA061251 | SCN5A | c.3080G>A (p.Arg1027Gln) c.2951G>A (p.Arg984Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581080G>A | CA352139580 | SCN5A | c.3079C>T (p.Arg1027Trp) c.2950C>T (p.Arg984Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581080G>C | CA352139582 | SCN5A | c.3079C>G (p.Arg1027Gly) c.2950C>G (p.Arg984Gly) | |
| 3 | g.38581080G= | CA1358576493 | SCN5A | c.3079C= (p.Arg1027=) c.2950C= (p.Arg984=) | |
| 3 | g.38581080G>T | CA433135384 | SCN5A | c.3079C>A (p.Arg1027=) c.2950C>A (p.Arg984=) | dbSNP |
| 3 | g.38581081T>A | CA433135386 | SCN5A | c.3078A>T (p.Thr1026=) c.2949A>T (p.Thr983=) | |
| 3 | g.38581081T>C | CA061246 | SCN5A | c.3078A>G (p.Thr1026=) c.2949A>G (p.Thr983=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581081T>G | CA433135389 | SCN5A | c.3078A>C (p.Thr1026=) c.2949A>C (p.Thr983=) | |
| 3 | g.38581081T= | CA1358576501 | SCN5A | c.3078A= (p.Thr1026=) c.2949A= (p.Thr983=) | |
| 3 | g.38581082G>A | CA352139585 | SCN5A | c.3077C>T (p.Thr1026Ile) c.2948C>T (p.Thr983Ile) | |
| 3 | g.38581082G>C | CA352139588 | SCN5A | c.3077C>G (p.Thr1026Arg) c.2948C>G (p.Thr983Arg) | |
| 3 | g.38581082G>T | CA352139589 | SCN5A | c.3077C>A (p.Thr1026Lys) c.2948C>A (p.Thr983Lys) | |
| 3 | g.38581083T>A | CA352139596 | SCN5A | c.3076A>T (p.Thr1026Ser) c.2947A>T (p.Thr983Ser) | |
| 3 | g.38581083T>C | CA352139592 | SCN5A | c.3076A>G (p.Thr1026Ala) c.2947A>G (p.Thr983Ala) | gnomAD v4 |
| 3 | g.38581083T>G | CA352139594 | SCN5A | c.3076A>C (p.Thr1026Pro) c.2947A>C (p.Thr983Pro) | |
| 3 | g.38581084T>A | CA352139598 | SCN5A | c.3075A>T (p.Glu1025Asp) c.2946A>T (p.Glu982Asp) | |
| 3 | g.38581084T>C | CA433135397 | SCN5A | c.3075A>G (p.Glu1025=) c.2946A>G (p.Glu982=) | |
| 3 | g.38581084T>G | CA352139600 | SCN5A | c.3075A>C (p.Glu1025Asp) c.2946A>C (p.Glu982Asp) | |
| 3 | g.38581085T>A | CA352139603 | SCN5A | c.3074A>T (p.Glu1025Val) c.2945A>T (p.Glu982Val) | |
| 3 | g.38581085T>C | CA352139604 | SCN5A | c.3074A>G (p.Glu1025Gly) c.2945A>G (p.Glu982Gly) | |
| 3 | g.38581085T>G | CA352139606 | SCN5A | c.3074A>C (p.Glu1025Ala) c.2945A>C (p.Glu982Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581085T= | CA1358574291 | SCN5A | c.3074A= (p.Glu1025=) c.2945A= (p.Glu982=) | |
| 3 | g.38581086C>A | CA352139608 | SCN5A | c.3073G>T (p.Glu1025Ter) c.2944G>T (p.Glu982Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38581086C= | CA1358574292 | SCN5A | c.3073G= (p.Glu1025=) c.2944G= (p.Glu982=) | |
| 3 | g.38581086C>G | CA352139612 | SCN5A | c.3073G>C (p.Glu1025Gln) c.2944G>C (p.Glu982Gln) | |
| 3 | g.38581086C>T | CA72926247 | SCN5A | c.3073G>A (p.Glu1025Lys) c.2944G>A (p.Glu982Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581087C>A | CA352139614 | SCN5A | c.3072G>T (p.Lys1024Asn) c.2943G>T (p.Lys981Asn) | |
| 3 | g.38581087C= | CA1358574294 | SCN5A | c.3072G= (p.Lys1024=) c.2943G= (p.Lys981=) | |
| 3 | g.38581087C>G | CA352139615 | SCN5A | c.3072G>C (p.Lys1024Asn) c.2943G>C (p.Lys981Asn) | |
| 3 | g.38581087C>T | CA433135405 | SCN5A | c.3072G>A (p.Lys1024=) c.2943G>A (p.Lys981=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581088T>A | CA352139617 | SCN5A | c.3071A>T (p.Lys1024Met) c.2942A>T (p.Lys981Met) | |
| 3 | g.38581088T>C | CA352139618 | SCN5A | c.3071A>G (p.Lys1024Arg) c.2942A>G (p.Lys981Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581088T>G | CA352139619 | SCN5A | c.3071A>C (p.Lys1024Thr) c.2942A>C (p.Lys981Thr) | |
| 3 | g.38581088T= | CA1358574295 | SCN5A | c.3071A= (p.Lys1024=) c.2942A= (p.Lys981=) | |
| 3 | g.38581089T>A | CA352139621 | SCN5A | c.3070A>T (p.Lys1024Ter) c.2941A>T (p.Lys981Ter) | dbSNP |
| 3 | g.38581089T>C | CA352139623 | SCN5A | c.3070A>G (p.Lys1024Glu) c.2941A>G (p.Lys981Glu) | dbSNP |
| 3 | g.38581089T>G | CA352139625 | SCN5A | c.3070A>C (p.Lys1024Gln) c.2941A>C (p.Lys981Gln) | |
| 3 | g.38581089T= | CA1358574297 | SCN5A | c.3070A= (p.Lys1024=) c.2941A= (p.Lys981=) | |
| 3 | g.38581090G>A | CA433135412 | SCN5A | c.3069C>T (p.Arg1023=) c.2940C>T (p.Arg980=) | |
| 3 | g.38581090G>C | CA433135415 | SCN5A | c.3069C>G (p.Arg1023=) c.2940C>G (p.Arg980=) | |
| 3 | g.38581090G>T | CA433135418 | SCN5A | c.3069C>A (p.Arg1023=) c.2940C>A (p.Arg980=) | |
| 3 | g.38581091C>A | CA352139627 | SCN5A | c.3068G>T (p.Arg1023Leu) c.2939G>T (p.Arg980Leu) | ClinVar gnomAD v4 |
| 3 | g.38581091C= | CA1358574305 | SCN5A | c.3068G= (p.Arg1023=) c.2939G= (p.Arg980=) | |
| 3 | g.38581091C>G | CA061242 | SCN5A | c.3068G>C (p.Arg1023Pro) c.2939G>C (p.Arg980Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581091C>T | CA016787 | SCN5A | c.3068G>A (p.Arg1023His) c.2939G>A (p.Arg980His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581092G>A | CA061233 | SCN5A | c.3067C>T (p.Arg1023Cys) c.2938C>T (p.Arg980Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581092G>C | CA352139633 | SCN5A | c.3067C>G (p.Arg1023Gly) c.2938C>G (p.Arg980Gly) | ClinVar |
| 3 | g.38581092G= | CA1358574313 | SCN5A | c.3067C= (p.Arg1023=) c.2938C= (p.Arg980=) | |
| 3 | g.38581092G>T | CA352139631 | SCN5A | c.3067C>A (p.Arg1023Ser) c.2938C>A (p.Arg980Ser) | dbSNP |
| 3 | g.38581093G>A | CA433135425 | SCN5A | c.3066C>T (p.Thr1022=) c.2937C>T (p.Thr979=) | |
| 3 | g.38581093G>C | CA433135426 | SCN5A | c.3066C>G (p.Thr1022=) c.2937C>G (p.Thr979=) | |
| 3 | g.38581093G>T | CA433135429 | SCN5A | c.3066C>A (p.Thr1022=) c.2937C>A (p.Thr979=) | |
| 3 | g.38581094G>A | CA352139636 | SCN5A | c.3065C>T (p.Thr1022Ile) c.2936C>T (p.Thr979Ile) | gnomAD v4 |
| 3 | g.38581094G>C | CA352139641 | SCN5A | c.3065C>G (p.Thr1022Ser) c.2936C>G (p.Thr979Ser) | |
| 3 | g.38581094G= | CA1358574322 | SCN5A | c.3065C= (p.Thr1022=) c.2936C= (p.Thr979=) | |
| 3 | g.38581094G>T | CA352139638 | SCN5A | c.3065C>A (p.Thr1022Asn) c.2936C>A (p.Thr979Asn) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581095T>A | CA352139643 | SCN5A | c.3064A>T (p.Thr1022Ser) c.2935A>T (p.Thr979Ser) | |
| 3 | g.38581095T>C | CA352139644 | SCN5A | c.3064A>G (p.Thr1022Ala) c.2935A>G (p.Thr979Ala) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581095T>G | CA352139646 | SCN5A | c.3064A>C (p.Thr1022Pro) c.2935A>C (p.Thr979Pro) | |
| 3 | g.38581095T= | CA1358574325 | SCN5A | c.3064A= (p.Thr1022=) c.2935A= (p.Thr979=) | |
| 3 | g.38581096G>A | CA433135436 | SCN5A | c.3063C>T (p.Pro1021=) c.2934C>T (p.Pro978=) | |
| 3 | g.38581096G>C | CA061228 | SCN5A | c.3063C>G (p.Pro1021=) c.2934C>G (p.Pro978=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581096G= | CA1358574328 | SCN5A | c.3063C= (p.Pro1021=) c.2934C= (p.Pro978=) | |
| 3 | g.38581096G>T | CA433135438 | SCN5A | c.3063C>A (p.Pro1021=) c.2934C>A (p.Pro978=) | |
| 3 | g.38581097G>A | CA352139650 | SCN5A | c.3062C>T (p.Pro1021Leu) c.2933C>T (p.Pro978Leu) | |
| 3 | g.38581097G>C | CA352139651 | SCN5A | c.3062C>G (p.Pro1021Arg) c.2933C>G (p.Pro978Arg) | |
| 3 | g.38581097G>T | CA352139653 | SCN5A | c.3062C>A (p.Pro1021His) c.2933C>A (p.Pro978His) | |
| 3 | g.38581098G>A | CA016779 | SCN5A | c.3061C>T (p.Pro1021Ser) c.2932C>T (p.Pro978Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581098G>C | CA352139656 | SCN5A | c.3061C>G (p.Pro1021Ala) c.2932C>G (p.Pro978Ala) | |
| 3 | g.38581098G= | CA1358574332 | SCN5A | c.3061C= (p.Pro1021=) c.2932C= (p.Pro978=) | |
| 3 | g.38581098G>T | CA352139658 | SCN5A | c.3061C>A (p.Pro1021Thr) c.2932C>A (p.Pro978Thr) | |
| 3 | g.38581099A>C | CA433135451 | SCN5A | c.3060T>G (p.Pro1020=) c.2931T>G (p.Pro977=) | |
| 3 | g.38581099A>G | CA433135452 | SCN5A | c.3060T>C (p.Pro1020=) c.2931T>C (p.Pro977=) | |
| 3 | g.38581099A>T | CA433135449 | SCN5A | c.3060T>A (p.Pro1020=) c.2931T>A (p.Pro977=) | |
| 3 | g.38581100G>A | CA352139663 | SCN5A | c.3059C>T (p.Pro1020Leu) c.2930C>T (p.Pro977Leu) | ClinVar dbSNP |
| 3 | g.38581100G>C | CA352139661 | SCN5A | c.3059C>G (p.Pro1020Arg) c.2930C>G (p.Pro977Arg) | |
| 3 | g.38581100G= | CA1358574336 | SCN5A | c.3059C= (p.Pro1020=) c.2930C= (p.Pro977=) | |
| 3 | g.38581100G>T | CA352139660 | SCN5A | c.3059C>A (p.Pro1020His) c.2930C>A (p.Pro977His) | |
| 3 | g.38581101G>A | CA352139665 | SCN5A | c.3058C>T (p.Pro1020Ser) c.2929C>T (p.Pro977Ser) | ClinVar dbSNP |
| 3 | g.38581101G>C | CA352139669 | SCN5A | c.3058C>G (p.Pro1020Ala) c.2929C>G (p.Pro977Ala) | |
| 3 | g.38581101G= | CA1358574338 | SCN5A | c.3058C= (p.Pro1020=) c.2929C= (p.Pro977=) | |
| 3 | g.38581101G>T | CA352139671 | SCN5A | c.3058C>A (p.Pro1020Thr) c.2929C>A (p.Pro977Thr) | |
| 3 | g.38581102C>A | CA433135465 | SCN5A | c.3057G>T (p.Val1019=) c.2928G>T (p.Val976=) | gnomAD v4 |
| 3 | g.38581102C= | CA1358574342 | SCN5A | c.3057G= (p.Val1019=) c.2928G= (p.Val976=) | |
| 3 | g.38581102C>G | CA433135461 | SCN5A | c.3057G>C (p.Val1019=) c.2928G>C (p.Val976=) | |
| 3 | g.38581102C>T | CA061223 | SCN5A | c.3057G>A (p.Val1019=) c.2928G>A (p.Val976=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581103A= | CA1358574345 | SCN5A | c.3056T= (p.Val1019=) c.2927T= (p.Val976=) | |
| 3 | g.38581103A>C | CA352139675 | SCN5A | c.3056T>G (p.Val1019Gly) c.2927T>G (p.Val976Gly) | dbSNP |
| 3 | g.38581103A>G | CA352139676 | SCN5A | c.3056T>C (p.Val1019Ala) c.2927T>C (p.Val976Ala) | dbSNP |
| 3 | g.38581103A>T | CA352139678 | SCN5A | c.3056T>A (p.Val1019Glu) c.2927T>A (p.Val976Glu) | ClinVar |
| 3 | g.38581104C>A | CA352139681 | SCN5A | c.3055G>T (p.Val1019Leu) c.2926G>T (p.Val976Leu) | |
| 3 | g.38581104C>G | CA352139682 | SCN5A | c.3055G>C (p.Val1019Leu) c.2926G>C (p.Val976Leu) | |
| 3 | g.38581104C>T | CA352139684 | SCN5A | c.3055G>A (p.Val1019Met) c.2926G>A (p.Val976Met) | |
| 3 | g.38581105C>A | CA352139686 | SCN5A | c.3054G>T (p.Lys1018Asn) c.2925G>T (p.Lys975Asn) | |
| 3 | g.38581105C= | CA1358574347 | SCN5A | c.3054G= (p.Lys1018=) c.2925G= (p.Lys975=) | |
| 3 | g.38581105C>G | CA352139688 | SCN5A | c.3054G>C (p.Lys1018Asn) c.2925G>C (p.Lys975Asn) | |
| 3 | g.38581105C>T | CA433135472 | SCN5A | c.3054G>A (p.Lys1018=) c.2925G>A (p.Lys975=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581106T>A | CA352139693 | SCN5A | c.3053A>T (p.Lys1018Met) c.2924A>T (p.Lys975Met) | |
| 3 | g.38581106T>C | CA352139694 | SCN5A | c.3053A>G (p.Lys1018Arg) c.2924A>G (p.Lys975Arg) | |
| 3 | g.38581106T>G | CA352139691 | SCN5A | c.3053A>C (p.Lys1018Thr) c.2924A>C (p.Lys975Thr) | gnomAD v4 |
| 3 | g.38581107T>A | CA352139697 | SCN5A | c.3052A>T (p.Lys1018Ter) c.2923A>T (p.Lys975Ter) | ClinVar dbSNP |
| 3 | g.38581107T>C | CA061220 | SCN5A | c.3052A>G (p.Lys1018Glu) c.2923A>G (p.Lys975Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581107T>G | CA352139700 | SCN5A | c.3052A>C (p.Lys1018Gln) c.2923A>C (p.Lys975Gln) | |
| 3 | g.38581107T= | CA1358574350 | SCN5A | c.3052A= (p.Lys1018=) c.2923A= (p.Lys975=) | |
| 3 | g.38581108C>A | CA352139702 | SCN5A | c.3051G>T (p.Glu1017Asp) c.2922G>T (p.Glu974Asp) | |
| 3 | g.38581108C>G | CA352139704 | SCN5A | c.3051G>C (p.Glu1017Asp) c.2922G>C (p.Glu974Asp) | |
| 3 | g.38581108C>T | CA433135480 | SCN5A | c.3051G>A (p.Glu1017=) c.2922G>A (p.Glu974=) | COSMIC COSMIC COSMIC |
| 3 | g.38581109T>A | CA352139706 | SCN5A | c.3050A>T (p.Glu1017Val) c.2921A>T (p.Glu974Val) | |
| 3 | g.38581109T>C | CA352139707 | SCN5A | c.3050A>G (p.Glu1017Gly) c.2921A>G (p.Glu974Gly) | gnomAD v4 |
| 3 | g.38581109T>G | CA352139709 | SCN5A | c.3050A>C (p.Glu1017Ala) c.2921A>C (p.Glu974Ala) | |
| 3 | g.38581110C>A | CA352139711 | SCN5A | c.3049G>T (p.Glu1017Ter) c.2920G>T (p.Glu974Ter) | dbSNP |
| 3 | g.38581110C= | CA1358574354 | SCN5A | c.3049G= (p.Glu1017=) c.2920G= (p.Glu974=) | |
| 3 | g.38581110C>G | CA352139712 | SCN5A | c.3049G>C (p.Glu1017Gln) c.2920G>C (p.Glu974Gln) | |
| 3 | g.38581110C>T | CA352139714 | SCN5A | c.3049G>A (p.Glu1017Lys) c.2920G>A (p.Glu974Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38581111C>A | CA433135487 | SCN5A | c.3048G>T (p.Thr1016=) c.2919G>T (p.Thr973=) | |
| 3 | g.38581111C= | CA1358574357 | SCN5A | c.3048G= (p.Thr1016=) c.2919G= (p.Thr973=) | |
| 3 | g.38581111C>G | CA433135488 | SCN5A | c.3048G>C (p.Thr1016=) c.2919G>C (p.Thr973=) | |
| 3 | g.38581111C>T | CA016770 | SCN5A | c.3048G>A (p.Thr1016=) c.2919G>A (p.Thr973=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581112G>A | CA016763 | SCN5A | c.3047C>T (p.Thr1016Met) c.2918C>T (p.Thr973Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581112G>C | CA352139721 | SCN5A | c.3047C>G (p.Thr1016Arg) c.2918C>G (p.Thr973Arg) | |
| 3 | g.38581112G= | CA1358574363 | SCN5A | c.3047C= (p.Thr1016=) c.2918C= (p.Thr973=) | |
| 3 | g.38581112G>T | CA352139718 | SCN5A | c.3047C>A (p.Thr1016Lys) c.2918C>A (p.Thr973Lys) | ClinVar dbSNP |
| 3 | g.38581113T>A | CA352139723 | SCN5A | c.3046A>T (p.Thr1016Ser) c.2917A>T (p.Thr973Ser) | dbSNP |
| 3 | g.38581113T>C | CA352139725 | SCN5A | c.3046A>G (p.Thr1016Ala) c.2917A>G (p.Thr973Ala) | |
| 3 | g.38581113T>G | CA352139726 | SCN5A | c.3046A>C (p.Thr1016Pro) c.2917A>C (p.Thr973Pro) | |
| 3 | g.38581116_38581117del | CA2586972016 | SCN5A | c.3045_3046del (p.Glu1015AspfsTer14) c.2916_2917del (p.Glu972AspfsTer14) | |
| 3 | g.38581114C>A | CA352139728 | SCN5A | c.3045G>T (p.Glu1015Asp) c.2916G>T (p.Glu972Asp) | |
| 3 | g.38581114C>G | CA352139729 | SCN5A | c.3045G>C (p.Glu1015Asp) c.2916G>C (p.Glu972Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581114C>T | CA433135501 | SCN5A | c.3045G>A (p.Glu1015=) c.2916G>A (p.Glu972=) | |
| 3 | g.38581115T>A | CA352139734 | SCN5A | c.3044A>T (p.Glu1015Val) c.2915A>T (p.Glu972Val) | |
| 3 | g.38581115T>C | CA352139732 | SCN5A | c.3044A>G (p.Glu1015Gly) c.2915A>G (p.Glu972Gly) | |
| 3 | g.38581115T>G | CA352139730 | SCN5A | c.3044A>C (p.Glu1015Ala) c.2915A>C (p.Glu972Ala) | |
| 3 | g.38581116C>A | CA352139737 | SCN5A | c.3043G>T (p.Glu1015Ter) c.2914G>T (p.Glu972Ter) | dbSNP |
| 3 | g.38581116C= | CA1358574370 | SCN5A | c.3043G= (p.Glu1015=) c.2914G= (p.Glu972=) | |
| 3 | g.38581116C>G | CA352139739 | SCN5A | c.3043G>C (p.Glu1015Gln) c.2914G>C (p.Glu972Gln) | |
| 3 | g.38581116C>T | CA061210 | SCN5A | c.3043G>A (p.Glu1015Lys) c.2914G>A (p.Glu972Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581117T>A | CA433135510 | SCN5A | c.3042A>T (p.Pro1014=) c.2913A>T (p.Pro971=) | |
| 3 | g.38581117T>C | CA433135512 | SCN5A | c.3042A>G (p.Pro1014=) c.2913A>G (p.Pro971=) | dbSNP |
| 3 | g.38581117T>G | CA433135513 | SCN5A | c.3042A>C (p.Pro1014=) c.2913A>C (p.Pro971=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581117T= | CA1358574374 | SCN5A | c.3042A= (p.Pro1014=) c.2913A= (p.Pro971=) | |
| 3 | g.38581117_38581118del | CA2573136279 | SCN5A | c.3041_3042del (p.Pro1014ArgfsTer15) c.2912_2913del (p.Pro971ArgfsTer15) | ClinVar dbSNP |
| 3 | g.38581118G>A | CA352139740 | SCN5A | c.3041C>T (p.Pro1014Leu) c.2912C>T (p.Pro971Leu) | |
| 3 | g.38581118G>C | CA352139741 | SCN5A | c.3041C>G (p.Pro1014Arg) c.2912C>G (p.Pro971Arg) | gnomAD v4 |
| 3 | g.38581118G>T | CA352139742 | SCN5A | c.3041C>A (p.Pro1014Gln) c.2912C>A (p.Pro971Gln) | |
| 3 | g.38581127_38581143dup | CA1139657965 | SCN5A | c.3025_3041dup (p.Glu1015ThrfsTer?) c.2896_2912dup (p.Glu972ThrfsTer?) | ClinVar dbSNP |
| 3 | g.38581127_38581143del | CA2665113032 | SCN5A | c.3025_3041del (p.Tyr1009ArgfsTer15) c.2896_2912del (p.Tyr966ArgfsTer15) | ClinVar gnomAD v4 |
| 3 | g.38581119G>A | CA352139743 | SCN5A | c.3040C>T (p.Pro1014Ser) c.2911C>T (p.Pro971Ser) | ClinVar |
| 3 | g.38581119G>C | CA352139745 | SCN5A | c.3040C>G (p.Pro1014Ala) c.2911C>G (p.Pro971Ala) | |
| 3 | g.38581119G>T | CA352139744 | SCN5A | c.3040C>A (p.Pro1014Thr) c.2911C>A (p.Pro971Thr) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38581120G>A | CA433135523 | SCN5A | c.3039C>T (p.Pro1013=) c.2910C>T (p.Pro970=) | COSMIC COSMIC COSMIC |
| 3 | g.38581120G>C | CA433135525 | SCN5A | c.3039C>G (p.Pro1013=) c.2910C>G (p.Pro970=) | |
| 3 | g.38581120G= | CA1358574379 | SCN5A | c.3039C= (p.Pro1013=) c.2910C= (p.Pro970=) | |
| 3 | g.38581120G>T | CA061205 | SCN5A | c.3039C>A (p.Pro1013=) c.2910C>A (p.Pro970=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581121G>A | CA352139748 | SCN5A | c.3038C>T (p.Pro1013Leu) c.2909C>T (p.Pro970Leu) | |
| 3 | g.38581121G>C | CA352139746 | SCN5A | c.3038C>G (p.Pro1013Arg) c.2909C>G (p.Pro970Arg) | ClinVar dbSNP |
| 3 | g.38581121G>T | CA352139750 | SCN5A | c.3038C>A (p.Pro1013His) c.2909C>A (p.Pro970His) | |
| 3 | g.38581122G>A | CA352139752 | SCN5A | c.3037C>T (p.Pro1013Ser) c.2908C>T (p.Pro970Ser) | gnomAD v4 |
| 3 | g.38581122G>C | CA352139755 | SCN5A | c.3037C>G (p.Pro1013Ala) c.2908C>G (p.Pro970Ala) | gnomAD v4 |
| 3 | g.38581122G>T | CA352139754 | SCN5A | c.3037C>A (p.Pro1013Thr) c.2908C>A (p.Pro970Thr) | |
| 3 | g.38581123T>A | CA433135532 | SCN5A | c.3036A>T (p.Pro1012=) c.2907A>T (p.Pro969=) | ClinVar |
| 3 | g.38581123T>C | CA433135534 | SCN5A | c.3036A>G (p.Pro1012=) c.2907A>G (p.Pro969=) | |
| 3 | g.38581123T>G | CA433135536 | SCN5A | c.3036A>C (p.Pro1012=) c.2907A>C (p.Pro969=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581123T= | CA1358574380 | SCN5A | c.3036A= (p.Pro1012=) c.2907A= (p.Pro969=) | |
| 3 | g.38581124G>A | CA352139758 | SCN5A | c.3035C>T (p.Pro1012Leu) c.2906C>T (p.Pro969Leu) | |
| 3 | g.38581124G>C | CA352139761 | SCN5A | c.3035C>G (p.Pro1012Arg) c.2906C>G (p.Pro969Arg) | |
| 3 | g.38581124G>T | CA352139760 | SCN5A | c.3035C>A (p.Pro1012Gln) c.2906C>A (p.Pro969Gln) | gnomAD v4 |
| 3 | g.38581125G>A | CA352139763 | SCN5A | c.3034C>T (p.Pro1012Ser) c.2905C>T (p.Pro969Ser) | |
| 3 | g.38581125G>C | CA352139765 | SCN5A | c.3034C>G (p.Pro1012Ala) c.2905C>G (p.Pro969Ala) | |
| 3 | g.38581125G>T | CA352139767 | SCN5A | c.3034C>A (p.Pro1012Thr) c.2905C>A (p.Pro969Thr) | |
| 3 | g.38581126C>A | CA433332490 | SCN5A | c.3033G>T (p.Pro1011=) c.2904G>T (p.Pro968=) | ClinVar gnomAD v4 |
| 3 | g.38581126C= | CA1358574387 | SCN5A | c.3033G= (p.Pro1011=) c.2904G= (p.Pro968=) | |
| 3 | g.38581126C>G | CA061201 | SCN5A | c.3033G>C (p.Pro1011=) c.2904G>C (p.Pro968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581126C>T | CA061197 | SCN5A | c.3033G>A (p.Pro1011=) c.2904G>A (p.Pro968=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581127G>A | CA061192 | SCN5A | c.3032C>T (p.Pro1011Leu) c.2903C>T (p.Pro968Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581127G>C | CA352139773 | SCN5A | c.3032C>G (p.Pro1011Arg) c.2903C>G (p.Pro968Arg) | |
| 3 | g.38581127G= | CA1358574391 | SCN5A | c.3032C= (p.Pro1011=) c.2903C= (p.Pro968=) | |
| 3 | g.38581127G>T | CA352139775 | SCN5A | c.3032C>A (p.Pro1011Gln) c.2903C>A (p.Pro968Gln) | |
| 3 | g.38581128G>A | CA061186 | SCN5A | c.3031C>T (p.Pro1011Ser) c.2902C>T (p.Pro968Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581128G>C | CA352139779 | SCN5A | c.3031C>G (p.Pro1011Ala) c.2902C>G (p.Pro968Ala) | dbSNP |
| 3 | g.38581128G= | CA1358574396 | SCN5A | c.3031C= (p.Pro1011=) c.2902C= (p.Pro968=) | |
| 3 | g.38581128G>T | CA352139781 | SCN5A | c.3031C>A (p.Pro1011Thr) c.2902C>A (p.Pro968Thr) | |
| 3 | g.38581129G>A | CA433332491 | SCN5A | c.3030C>T (p.Ser1010=) c.2901C>T (p.Ser967=) | ClinVar dbSNP |
| 3 | g.38581129G>C | CA433332492 | SCN5A | c.3030C>G (p.Ser1010=) c.2901C>G (p.Ser967=) | |
| 3 | g.38581129G>T | CA433332493 | SCN5A | c.3030C>A (p.Ser1010=) c.2901C>A (p.Ser967=) | gnomAD v4 |
| 3 | g.38581130G>A | CA352139784 | SCN5A | c.3029C>T (p.Ser1010Phe) c.2900C>T (p.Ser967Phe) | gnomAD v4 |
| 3 | g.38581130G>C | CA352139787 | SCN5A | c.3029C>G (p.Ser1010Cys) c.2900C>G (p.Ser967Cys) | |
| 3 | g.38581130G>T | CA352139785 | SCN5A | c.3029C>A (p.Ser1010Tyr) c.2900C>A (p.Ser967Tyr) | |
| 3 | g.38581131A>C | CA352139789 | SCN5A | c.3028T>G (p.Ser1010Ala) c.2899T>G (p.Ser967Ala) | |
| 3 | g.38581131A>G | CA352139791 | SCN5A | c.3028T>C (p.Ser1010Pro) c.2899T>C (p.Ser967Pro) | |
| 3 | g.38581131A>T | CA352139793 | SCN5A | c.3028T>A (p.Ser1010Thr) c.2899T>A (p.Ser967Thr) | gnomAD v4 |
| 3 | g.38581132G>A | CA433332494 | SCN5A | c.3027C>T (p.Tyr1009=) c.2898C>T (p.Tyr966=) | gnomAD v4 |
| 3 | g.38581132G>C | CA352139795 | SCN5A | c.3027C>G (p.Tyr1009Ter) c.2898C>G (p.Tyr966Ter) | |
| 3 | g.38581132G>T | CA352139797 | SCN5A | c.3027C>A (p.Tyr1009Ter) c.2898C>A (p.Tyr966Ter) | ClinVar dbSNP |
| 3 | g.38581133T>A | CA352139799 | SCN5A | c.3026A>T (p.Tyr1009Phe) c.2897A>T (p.Tyr966Phe) | |
| 3 | g.38581133T>C | CA352139801 | SCN5A | c.3026A>G (p.Tyr1009Cys) c.2897A>G (p.Tyr966Cys) | |
| 3 | g.38581133T>G | CA72926292 | SCN5A | c.3026A>C (p.Tyr1009Ser) c.2897A>C (p.Tyr966Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581133T= | CA1358574398 | SCN5A | c.3026A= (p.Tyr1009=) c.2897A= (p.Tyr966=) | |
| 3 | g.38581134A= | CA1358574400 | SCN5A | c.3025T= (p.Tyr1009=) c.2896T= (p.Tyr966=) | |
| 3 | g.38581134A>C | CA352139805 | SCN5A | c.3025T>G (p.Tyr1009Asp) c.2896T>G (p.Tyr966Asp) | ClinVar |
| 3 | g.38581134A>G | CA352139807 | SCN5A | c.3025T>C (p.Tyr1009His) c.2896T>C (p.Tyr966His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581134A>T | CA352139804 | SCN5A | c.3025T>A (p.Tyr1009Asn) c.2896T>A (p.Tyr966Asn) | gnomAD v4 |
| 3 | g.38581135G>A | CA433332495 | SCN5A | c.3024C>T (p.Pro1008=) c.2895C>T (p.Pro965=) | gnomAD v4 |
| 3 | g.38581135G>C | CA433332496 | SCN5A | c.3024C>G (p.Pro1008=) c.2895C>G (p.Pro965=) | |
| 3 | g.38581135G>T | CA433332497 | SCN5A | c.3024C>A (p.Pro1008=) c.2895C>A (p.Pro965=) | |
| 3 | g.38581139dup | CA2739279412 | SCN5A | c.3024dup (p.Tyr1009LeufsTer21) c.2895dup (p.Tyr966LeufsTer21) | ClinVar |
| 3 | g.38581139del | CA433332498 | SCN5A | c.3024del (p.Tyr1009ThrfsTer?) c.2895del (p.Tyr966ThrfsTer?) | COSMIC COSMIC COSMIC |
| 3 | g.38581136G>A | CA061176 | SCN5A | c.3023C>T (p.Pro1008Leu) c.2894C>T (p.Pro965Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581136G>C | CA352139810 | SCN5A | c.3023C>G (p.Pro1008Arg) c.2894C>G (p.Pro965Arg) | |
| 3 | g.38581136G= | CA1358574402 | SCN5A | c.3023C= (p.Pro1008=) c.2894C= (p.Pro965=) | |
| 3 | g.38581136G>T | CA352139811 | SCN5A | c.3023C>A (p.Pro1008His) c.2894C>A (p.Pro965His) | |
| 3 | g.38581136_38581149delinsGGGGTGGCAATGCA | CA1358574403 | SCN5A | c.3010_3023delinsTGCATTGCCACCCC (p.Cys1004=) c.2881_2894delinsTGCATTGCCACCCC (p.Cys961=) | |
| 3 | g.38581137G>A | CA016755 | SCN5A | c.3022C>T (p.Pro1008Ser) c.2893C>T (p.Pro965Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581137G>C | CA352139815 | SCN5A | c.3022C>G (p.Pro1008Ala) c.2893C>G (p.Pro965Ala) | ClinVar gnomAD v4 |
| 3 | g.38581137G= | CA1358574407 | SCN5A | c.3022C= (p.Pro1008=) c.2893C= (p.Pro965=) | |
| 3 | g.38581137G>T | CA352139817 | SCN5A | c.3022C>A (p.Pro1008Thr) c.2893C>A (p.Pro965Thr) | dbSNP gnomAD v4 |
| 3 | g.38581138_38581150del | CA16611470 | SCN5A | c.3010_3022del (p.Cys1004ProfsTer?) c.2881_2893del (p.Cys961ProfsTer?) | ClinVar dbSNP |
| 3 | g.38581138G>A | CA433332499 | SCN5A | c.3021C>T (p.Thr1007=) c.2892C>T (p.Thr964=) | |
| 3 | g.38581138G>C | CA433332500 | SCN5A | c.3021C>G (p.Thr1007=) c.2892C>G (p.Thr964=) | |
| 3 | g.38581138G>T | CA433332501 | SCN5A | c.3021C>A (p.Thr1007=) c.2892C>A (p.Thr964=) | |
| 3 | g.38581139G>A | CA061168 | SCN5A | c.3020C>T (p.Thr1007Ile) c.2891C>T (p.Thr964Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581139G>C | CA352139820 | SCN5A | c.3020C>G (p.Thr1007Ser) c.2891C>G (p.Thr964Ser) | |
| 3 | g.38581139G= | CA1358574409 | SCN5A | c.3020C= (p.Thr1007=) c.2891C= (p.Thr964=) | |
| 3 | g.38581139G>T | CA72926298 | SCN5A | c.3020C>A (p.Thr1007Asn) c.2891C>A (p.Thr964Asn) | ClinVar dbSNP gnomAD v2 |
| 3 | g.38581140del | CA2580617587 | SCN5A | c.3019del (p.Thr1007ProfsTer?) c.2890del (p.Thr964ProfsTer?) | |
| 3 | g.38581140T>A | CA352139824 | SCN5A | c.3019A>T (p.Thr1007Ser) c.2890A>T (p.Thr964Ser) | |
| 3 | g.38581140T>C | CA352139826 | SCN5A | c.3019A>G (p.Thr1007Ala) c.2890A>G (p.Thr964Ala) | |
| 3 | g.38581140T>G | CA352139828 | SCN5A | c.3019A>C (p.Thr1007Pro) c.2890A>C (p.Thr964Pro) | dbSNP |
| 3 | g.38581140T= | CA1358574411 | SCN5A | c.3019A= (p.Thr1007=) c.2890A= (p.Thr964=) | |
| 3 | g.38581141G>A | CA433332504 | SCN5A | c.3018C>T (p.Ala1006=) c.2889C>T (p.Ala963=) | |
| 3 | g.38581141G>C | CA433332503 | SCN5A | c.3018C>G (p.Ala1006=) c.2889C>G (p.Ala963=) | |
| 3 | g.38581141G>T | CA433332502 | SCN5A | c.3018C>A (p.Ala1006=) c.2889C>A (p.Ala963=) | |
| 3 | g.38581142G>A | CA352139835 | SCN5A | c.3017C>T (p.Ala1006Val) c.2888C>T (p.Ala963Val) | |
| 3 | g.38581142G>C | CA352139831 | SCN5A | c.3017C>G (p.Ala1006Gly) c.2888C>G (p.Ala963Gly) | |
| 3 | g.38581142G>T | CA352139832 | SCN5A | c.3017C>A (p.Ala1006Asp) c.2888C>A (p.Ala963Asp) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581143C>A | CA061161 | SCN5A | c.3016G>T (p.Ala1006Ser) c.2887G>T (p.Ala963Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581143C= | CA1358574413 | SCN5A | c.3016G= (p.Ala1006=) c.2887G= (p.Ala963=) | |
| 3 | g.38581143C>G | CA352139842 | SCN5A | c.3016G>C (p.Ala1006Pro) c.2887G>C (p.Ala963Pro) | |
| 3 | g.38581143C>T | CA352139844 | SCN5A | c.3016G>A (p.Ala1006Thr) c.2887G>A (p.Ala963Thr) | gnomAD v4 |
| 3 | g.38581144A>C | CA352139847 | SCN5A | c.3015T>G (p.Ile1005Met) c.2886T>G (p.Ile962Met) | |
| 3 | g.38581144A>G | CA433332505 | SCN5A | c.3015T>C (p.Ile1005=) c.2886T>C (p.Ile962=) | gnomAD v4 |
| 3 | g.38581144A>T | CA433332506 | SCN5A | c.3015T>A (p.Ile1005=) c.2886T>A (p.Ile962=) | |
| 3 | g.38581145A= | CA1358574415 | SCN5A | c.3014T= (p.Ile1005=) c.2885T= (p.Ile962=) | |
| 3 | g.38581145A>C | CA352139849 | SCN5A | c.3014T>G (p.Ile1005Ser) c.2885T>G (p.Ile962Ser) | |
| 3 | g.38581145A>G | CA061157 | SCN5A | c.3014T>C (p.Ile1005Thr) c.2885T>C (p.Ile962Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581145A>T | CA352139852 | SCN5A | c.3014T>A (p.Ile1005Asn) c.2885T>A (p.Ile962Asn) | gnomAD v4 |
| 3 | g.38581146T>A | CA352139854 | SCN5A | c.3013A>T (p.Ile1005Phe) c.2884A>T (p.Ile962Phe) | ClinVar dbSNP |
| 3 | g.38581146T>C | CA352139856 | SCN5A | c.3013A>G (p.Ile1005Val) c.2884A>G (p.Ile962Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581146T>G | CA352139857 | SCN5A | c.3013A>C (p.Ile1005Leu) c.2884A>C (p.Ile962Leu) | |
| 3 | g.38581146T= | CA1358574417 | SCN5A | c.3013A= (p.Ile1005=) c.2884A= (p.Ile962=) | |
| 3 | g.38581147G>A | CA433332507 | SCN5A | c.3012C>T (p.Cys1004=) c.2883C>T (p.Cys961=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581147G>C | CA352139859 | SCN5A | c.3012C>G (p.Cys1004Trp) c.2883C>G (p.Cys961Trp) | |
| 3 | g.38581147G= | CA1358574419 | SCN5A | c.3012C= (p.Cys1004=) c.2883C= (p.Cys961=) | |
| 3 | g.38581147G>T | CA352139860 | SCN5A | c.3012C>A (p.Cys1004Ter) c.2883C>A (p.Cys961Ter) | |
| 3 | g.38581155_38581162dup | CA2580614201 | SCN5A | c.3005_3012dup (p.Ile1005ProfsTer?) c.2876_2883dup (p.Ile962ProfsTer?) | ClinVar gnomAD v4 |
| 3 | g.38581155_38581162del | CA2586972017 | SCN5A | c.3005_3012del (p.Pro1002HisfsTer25) c.2876_2883del (p.Pro959HisfsTer25) | |
| 3 | g.38581148C>A | CA352139864 | SCN5A | c.3011G>T (p.Cys1004Phe) c.2882G>T (p.Cys961Phe) | |
| 3 | g.38581148C>G | CA352139866 | SCN5A | c.3011G>C (p.Cys1004Ser) c.2882G>C (p.Cys961Ser) | |
| 3 | g.38581148C>T | CA352139861 | SCN5A | c.3011G>A (p.Cys1004Tyr) c.2882G>A (p.Cys961Tyr) | |
| 3 | g.38581149A= | CA1358574423 | SCN5A | c.3010T= (p.Cys1004=) c.2881T= (p.Cys961=) | |
| 3 | g.38581149A>C | CA352139870 | SCN5A | c.3010T>G (p.Cys1004Gly) c.2881T>G (p.Cys961Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581149A>G | CA016748 | SCN5A | c.3010T>C (p.Cys1004Arg) c.2881T>C (p.Cys961Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581149A>T | CA352139868 | SCN5A | c.3010T>A (p.Cys1004Ser) c.2881T>A (p.Cys961Ser) | |
| 3 | g.38581150G>A | CA433332508 | SCN5A | c.3009C>T (p.Ser1003=) c.2880C>T (p.Ser960=) | COSMIC COSMIC COSMIC |
| 3 | g.38581150G>C | CA352139872 | SCN5A | c.3009C>G (p.Ser1003Arg) c.2880C>G (p.Ser960Arg) | |
| 3 | g.38581150G>T | CA352139874 | SCN5A | c.3009C>A (p.Ser1003Arg) c.2880C>A (p.Ser960Arg) | |
| 3 | g.38581151C>A | CA352139876 | SCN5A | c.3008G>T (p.Ser1003Ile) c.2879G>T (p.Ser960Ile) | |
| 3 | g.38581151C>G | CA352139878 | SCN5A | c.3008G>C (p.Ser1003Thr) c.2879G>C (p.Ser960Thr) | |
| 3 | g.38581151C>T | CA352139880 | SCN5A | c.3008G>A (p.Ser1003Asn) c.2879G>A (p.Ser960Asn) | |
| 3 | g.38581152T>A | CA352139882 | SCN5A | c.3007A>T (p.Ser1003Cys) c.2878A>T (p.Ser960Cys) | |
| 3 | g.38581152T>C | CA352139884 | SCN5A | c.3007A>G (p.Ser1003Gly) c.2878A>G (p.Ser960Gly) | ClinVar |
| 3 | g.38581152T>G | CA352139886 | SCN5A | c.3007A>C (p.Ser1003Arg) c.2878A>C (p.Ser960Arg) | |
| 3 | g.38581153G>A | CA433332509 | SCN5A | c.3006C>T (p.Pro1002=) c.2877C>T (p.Pro959=) | |
| 3 | g.38581153G>C | CA433332510 | SCN5A | c.3006C>G (p.Pro1002=) c.2877C>G (p.Pro959=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581153G= | CA1358574425 | SCN5A | c.3006C= (p.Pro1002=) c.2877C= (p.Pro959=) | |
| 3 | g.38581153G>T | CA433332511 | SCN5A | c.3006C>A (p.Pro1002=) c.2877C>A (p.Pro959=) | |
| 3 | g.38581155del | CA2739279413 | SCN5A | c.3006del (p.Ser1003AlafsTer?) c.2877del (p.Ser960AlafsTer?) | ClinVar |
| 3 | g.38581154G>A | CA352139888 | SCN5A | c.3005C>T (p.Pro1002Leu) c.2876C>T (p.Pro959Leu) | dbSNP gnomAD v4 |
| 3 | g.38581154G>C | CA352139890 | SCN5A | c.3005C>G (p.Pro1002Arg) c.2876C>G (p.Pro959Arg) | |
| 3 | g.38581154G= | CA1358574427 | SCN5A | c.3005C= (p.Pro1002=) c.2876C= (p.Pro959=) | |
| 3 | g.38581154G>T | CA352139892 | SCN5A | c.3005C>A (p.Pro1002His) c.2876C>A (p.Pro959His) | |
| 3 | g.38581155G>A | CA061148 | SCN5A | c.3004C>T (p.Pro1002Ser) c.2875C>T (p.Pro959Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581155G>C | CA352139895 | SCN5A | c.3004C>G (p.Pro1002Ala) c.2875C>G (p.Pro959Ala) | |
| 3 | g.38581155G= | CA1358574428 | SCN5A | c.3004C= (p.Pro1002=) c.2875C= (p.Pro959=) | |
| 3 | g.38581155G>T | CA352139893 | SCN5A | c.3004C>A (p.Pro1002Thr) c.2875C>A (p.Pro959Thr) | |
| 3 | g.38581156C>A | CA433332512 | SCN5A | c.3003G>T (p.Leu1001=) c.2874G>T (p.Leu958=) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581156C= | CA1358574429 | SCN5A | c.3003G= (p.Leu1001=) c.2874G= (p.Leu958=) | |
| 3 | g.38581156C>G | CA061143 | SCN5A | c.3003G>C (p.Leu1001=) c.2874G>C (p.Leu958=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581156C>T | CA433332513 | SCN5A | c.3003G>A (p.Leu1001=) c.2874G>A (p.Leu958=) | |
| 3 | g.38581157A>C | CA352139898 | SCN5A | c.3002T>G (p.Leu1001Arg) c.2873T>G (p.Leu958Arg) | |
| 3 | g.38581157A>G | CA352139900 | SCN5A | c.3002T>C (p.Leu1001Pro) c.2873T>C (p.Leu958Pro) | |
| 3 | g.38581157A>T | CA352139901 | SCN5A | c.3002T>A (p.Leu1001Gln) c.2873T>A (p.Leu958Gln) | |
| 3 | g.38581157_38581160delinsAGCT | CA1358574430 | SCN5A | c.2999_3002delinsAGCT (p.Gln1000=) c.2870_2873delinsAGCT (p.Gln957=) | |
| 3 | g.38581158G>A | CA433332514 | SCN5A | c.3001C>T (p.Leu1001=) c.2872C>T (p.Leu958=) | gnomAD v4 |
| 3 | g.38581158G>C | CA352139903 | SCN5A | c.3001C>G (p.Leu1001Val) c.2872C>G (p.Leu958Val) | ClinVar gnomAD v4 |
| 3 | g.38581158G>T | CA352139905 | SCN5A | c.3001C>A (p.Leu1001Met) c.2872C>A (p.Leu958Met) | |
| 3 | g.38581159_38581161del | CA061128 | SCN5A | c.2999_3001del (p.Gln1000del) c.2870_2872del (p.Gln957del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581159C>A | CA352139907 | SCN5A | c.3000G>T (p.Gln1000His) c.2871G>T (p.Gln957His) | |
| 3 | g.38581159C= | CA1358574431 | SCN5A | c.3000G= (p.Gln1000=) c.2871G= (p.Gln957=) | |
| 3 | g.38581159C>G | CA352139908 | SCN5A | c.3000G>C (p.Gln1000His) c.2871G>C (p.Gln957His) | |
| 3 | g.38581159C>T | CA72926311 | SCN5A | c.3000G>A (p.Gln1000=) c.2871G>A (p.Gln957=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581160T>A | CA061132 | SCN5A | c.2999A>T (p.Gln1000Leu) c.2870A>T (p.Gln957Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581160T>C | CA352139913 | SCN5A | c.2999A>G (p.Gln1000Arg) c.2870A>G (p.Gln957Arg) | |
| 3 | g.38581160T>G | CA352139911 | SCN5A | c.2999A>C (p.Gln1000Pro) c.2870A>C (p.Gln957Pro) | |
| 3 | g.38581160T= | CA1358574433 | SCN5A | c.2999A= (p.Gln1000=) c.2870A= (p.Gln957=) | |
| 3 | g.38581161G>A | CA352139914 | SCN5A | c.2998C>T (p.Gln1000Ter) c.2869C>T (p.Gln957Ter) | ClinVar |
| 3 | g.38581161G>C | CA352139916 | SCN5A | c.2998C>G (p.Gln1000Glu) c.2869C>G (p.Gln957Glu) | |
| 3 | g.38581161G>T | CA352139918 | SCN5A | c.2998C>A (p.Gln1000Lys) c.2869C>A (p.Gln957Lys) | |
| 3 | g.38581162G>A | CA433332516 | SCN5A | c.2997C>T (p.Gly999=) c.2868C>T (p.Gly956=) | |
| 3 | g.38581162G>C | CA433332517 | SCN5A | c.2997C>G (p.Gly999=) c.2868C>G (p.Gly956=) | |
| 3 | g.38581162G>T | CA433332515 | SCN5A | c.2997C>A (p.Gly999=) c.2868C>A (p.Gly956=) | gnomAD v4 |
| 3 | g.38581163C>A | CA352139920 | SCN5A | c.2996G>T (p.Gly999Val) c.2867G>T (p.Gly956Val) | |
| 3 | g.38581163C= | CA1358574434 | SCN5A | c.2996G= (p.Gly999=) c.2867G= (p.Gly956=) | |
| 3 | g.38581163C>G | CA352139922 | SCN5A | c.2996G>C (p.Gly999Ala) c.2867G>C (p.Gly956Ala) | |
| 3 | g.38581163C>T | CA352139923 | SCN5A | c.2996G>A (p.Gly999Asp) c.2867G>A (p.Gly956Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581164C>A | CA352139930 | SCN5A | c.2995G>T (p.Gly999Cys) c.2866G>T (p.Gly956Cys) | COSMIC COSMIC COSMIC |
| 3 | g.38581164C>G | CA352139926 | SCN5A | c.2995G>C (p.Gly999Arg) c.2866G>C (p.Gly956Arg) | |
| 3 | g.38581164C>T | CA352139927 | SCN5A | c.2995G>A (p.Gly999Ser) c.2866G>A (p.Gly956Ser) | |
| 3 | g.38581165C>A | CA352139932 | SCN5A | c.2994G>T (p.Gln998His) c.2865G>T (p.Gln955His) | COSMIC COSMIC COSMIC |
| 3 | g.38581165C= | CA1358574436 | SCN5A | c.2994G= (p.Gln998=) c.2865G= (p.Gln955=) | |
| 3 | g.38581165C>G | CA352139934 | SCN5A | c.2994G>C (p.Gln998His) c.2865G>C (p.Gln955His) | |
| 3 | g.38581165C>T | CA433332518 | SCN5A | c.2994G>A (p.Gln998=) c.2865G>A (p.Gln955=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581166T>A | CA352139936 | SCN5A | c.2993A>T (p.Gln998Leu) c.2864A>T (p.Gln955Leu) | |
| 3 | g.38581166T>C | CA016741 | SCN5A | c.2993A>G (p.Gln998Arg) c.2864A>G (p.Gln955Arg) | ClinVar dbSNP |
| 3 | g.38581166T>G | CA352139939 | SCN5A | c.2993A>C (p.Gln998Pro) c.2864A>C (p.Gln955Pro) | dbSNP |
| 3 | g.38581166T= | CA1358574438 | SCN5A | c.2993A= (p.Gln998=) c.2864A= (p.Gln955=) | |
| 3 | g.38581167G>A | CA352139941 | SCN5A | c.2992C>T (p.Gln998Ter) c.2863C>T (p.Gln955Ter) | |
| 3 | g.38581167G>C | CA352139945 | SCN5A | c.2992C>G (p.Gln998Glu) c.2863C>G (p.Gln955Glu) | |
| 3 | g.38581167G>T | CA352139943 | SCN5A | c.2992C>A (p.Gln998Lys) c.2863C>A (p.Gln955Lys) | |
| 3 | g.38581168G>A | CA433332519 | SCN5A | c.2991C>T (p.Ala997=) c.2862C>T (p.Ala954=) | |
| 3 | g.38581168G>C | CA433332520 | SCN5A | c.2991C>G (p.Ala997=) c.2862C>G (p.Ala954=) | |
| 3 | g.38581168G>T | CA433332521 | SCN5A | c.2991C>A (p.Ala997=) c.2862C>A (p.Ala954=) | |
| 3 | g.38581169G>A | CA352139948 | SCN5A | c.2990C>T (p.Ala997Val) c.2861C>T (p.Ala954Val) | |
| 3 | g.38581169G>C | CA352139949 | SCN5A | c.2990C>G (p.Ala997Gly) c.2861C>G (p.Ala954Gly) | |
| 3 | g.38581169G= | CA1358574440 | SCN5A | c.2990C= (p.Ala997=) c.2861C= (p.Ala954=) | |
| 3 | g.38581169G>T | CA016729 | SCN5A | c.2990C>A (p.Ala997Asp) c.2861C>A (p.Ala954Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581170C>A | CA016718 | SCN5A | c.2989G>T (p.Ala997Ser) c.2860G>T (p.Ala954Ser) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581170C= | CA1358574442 | SCN5A | c.2989G= (p.Ala997=) c.2860G= (p.Ala954=) | |
| 3 | g.38581170C>G | CA352139953 | SCN5A | c.2989G>C (p.Ala997Pro) c.2860G>C (p.Ala954Pro) | |
| 3 | g.38581170C>T | CA016710 | SCN5A | c.2989G>A (p.Ala997Thr) c.2860G>A (p.Ala954Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581171G>A | CA061120 | SCN5A | c.2988C>T (p.Ala996=) c.2859C>T (p.Ala953=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581171G>C | CA433332522 | SCN5A | c.2988C>G (p.Ala996=) c.2859C>G (p.Ala953=) | |
| 3 | g.38581171G= | CA1358574443 | SCN5A | c.2988C= (p.Ala996=) c.2859C= (p.Ala953=) | |
| 3 | g.38581171G>T | CA433332523 | SCN5A | c.2988C>A (p.Ala996=) c.2859C>A (p.Ala953=) | |
| 3 | g.38581172G>A | CA352139957 | SCN5A | c.2987C>T (p.Ala996Val) c.2858C>T (p.Ala953Val) | gnomAD v4 |
| 3 | g.38581172G>C | CA352139958 | SCN5A | c.2987C>G (p.Ala996Gly) c.2858C>G (p.Ala953Gly) | |
| 3 | g.38581172G= | CA1358574446 | SCN5A | c.2987C= (p.Ala996=) c.2858C= (p.Ala953=) | |
| 3 | g.38581172G>T | CA352139961 | SCN5A | c.2987C>A (p.Ala996Asp) c.2858C>A (p.Ala953Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581173C>A | CA352139963 | SCN5A | c.2986G>T (p.Ala996Ser) c.2857G>T (p.Ala953Ser) | |
| 3 | g.38581173C= | CA1358574447 | SCN5A | c.2986G= (p.Ala996=) c.2857G= (p.Ala953=) | |
| 3 | g.38581173C>G | CA352139965 | SCN5A | c.2986G>C (p.Ala996Pro) c.2857G>C (p.Ala953Pro) | |
| 3 | g.38581173C>T | CA352139967 | SCN5A | c.2986G>A (p.Ala996Thr) c.2857G>A (p.Ala953Thr) | dbSNP gnomAD v2 gnomAD v4 |