UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38581238_38581247del | CA2586972020 | SCN5A | c.2914_2923del (p.Phe972GlyfsTer?) c.2785_2794del (p.Phe929GlyfsTer?) | |
| 3 | g.38581237C>A | CA352140228 | SCN5A | c.2922G>T (p.Lys974Asn) c.2793G>T (p.Lys931Asn) | |
| 3 | g.38581237C>G | CA352140230 | SCN5A | c.2922G>C (p.Lys974Asn) c.2793G>C (p.Lys931Asn) | |
| 3 | g.38581237C>T | CA433332565 | SCN5A | c.2922G>A (p.Lys974=) c.2793G>A (p.Lys931=) | |
| 3 | g.38581238T>A | CA352140234 | SCN5A | c.2921A>T (p.Lys974Met) c.2792A>T (p.Lys931Met) | |
| 3 | g.38581238T>C | CA352140232 | SCN5A | c.2921A>G (p.Lys974Arg) c.2792A>G (p.Lys931Arg) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581238T>G | CA352140233 | SCN5A | c.2921A>C (p.Lys974Thr) c.2792A>C (p.Lys931Thr) | |
| 3 | g.38581238T= | CA1358574520 | SCN5A | c.2921A= (p.Lys974=) c.2792A= (p.Lys931=) | |
| 3 | g.38581239T>A | CA352140237 | SCN5A | c.2920A>T (p.Lys974Ter) c.2791A>T (p.Lys931Ter) | dbSNP |
| 3 | g.38581239T>C | CA352140239 | SCN5A | c.2920A>G (p.Lys974Glu) c.2791A>G (p.Lys931Glu) | |
| 3 | g.38581239T>G | CA352140241 | SCN5A | c.2920A>C (p.Lys974Gln) c.2791A>C (p.Lys931Gln) | |
| 3 | g.38581239T= | CA1358574522 | SCN5A | c.2920A= (p.Lys974=) c.2791A= (p.Lys931=) | |
| 3 | g.38581240G>A | CA433332566 | SCN5A | c.2919C>T (p.Val973=) c.2790C>T (p.Val930=) | |
| 3 | g.38581240G>C | CA061025 | SCN5A | c.2919C>G (p.Val973=) c.2790C>G (p.Val930=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581240G= | CA1358574524 | SCN5A | c.2919C= (p.Val973=) c.2790C= (p.Val930=) | |
| 3 | g.38581240G>T | CA433332567 | SCN5A | c.2919C>A (p.Val973=) c.2790C>A (p.Val930=) | gnomAD v4 |
| 3 | g.38581241A>C | CA352140245 | SCN5A | c.2918T>G (p.Val973Gly) c.2789T>G (p.Val930Gly) | |
| 3 | g.38581241A>G | CA352140247 | SCN5A | c.2918T>C (p.Val973Ala) c.2789T>C (p.Val930Ala) | |
| 3 | g.38581241A>T | CA352140248 | SCN5A | c.2918T>A (p.Val973Asp) c.2789T>A (p.Val930Asp) | |
| 3 | g.38581242C>A | CA352140250 | SCN5A | c.2917G>T (p.Val973Phe) c.2788G>T (p.Val930Phe) | COSMIC COSMIC COSMIC |
| 3 | g.38581242C>G | CA352140252 | SCN5A | c.2917G>C (p.Val973Leu) c.2788G>C (p.Val930Leu) | |
| 3 | g.38581242C>T | CA352140254 | SCN5A | c.2917G>A (p.Val973Ile) c.2788G>A (p.Val930Ile) | |
| 3 | g.38581243A>C | CA352140258 | SCN5A | c.2916T>G (p.Phe972Leu) c.2787T>G (p.Phe929Leu) | |
| 3 | g.38581243A>G | CA433332568 | SCN5A | c.2916T>C (p.Phe972=) c.2787T>C (p.Phe929=) | |
| 3 | g.38581243A>T | CA352140256 | SCN5A | c.2916T>A (p.Phe972Leu) c.2787T>A (p.Phe929Leu) | |
| 3 | g.38581244A= | CA1358574526 | SCN5A | c.2915T= (p.Phe972=) c.2786T= (p.Phe929=) | |
| 3 | g.38581244A>C | CA352140260 | SCN5A | c.2915T>G (p.Phe972Cys) c.2786T>G (p.Phe929Cys) | |
| 3 | g.38581244A>G | CA352140262 | SCN5A | c.2915T>C (p.Phe972Ser) c.2786T>C (p.Phe929Ser) | dbSNP |
| 3 | g.38581244A>T | CA352140264 | SCN5A | c.2915T>A (p.Phe972Tyr) c.2786T>A (p.Phe929Tyr) | |
| 3 | g.38581245A>C | CA352140267 | SCN5A | c.2914T>G (p.Phe972Val) c.2785T>G (p.Phe929Val) | |
| 3 | g.38581245A>G | CA352140269 | SCN5A | c.2914T>C (p.Phe972Leu) c.2785T>C (p.Phe929Leu) | |
| 3 | g.38581245A>T | CA352140271 | SCN5A | c.2914T>A (p.Phe972Ile) c.2785T>A (p.Phe929Ile) | |
| 3 | g.38581246G>A | CA433332569 | SCN5A | c.2913C>T (p.Arg971=) c.2784C>T (p.Arg928=) | |
| 3 | g.38581246G>C | CA433332570 | SCN5A | c.2913C>G (p.Arg971=) c.2784C>G (p.Arg928=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581246G= | CA1358574527 | SCN5A | c.2913C= (p.Arg971=) c.2784C= (p.Arg928=) | |
| 3 | g.38581246G>T | CA433332571 | SCN5A | c.2913C>A (p.Arg971=) c.2784C>A (p.Arg928=) | |
| 3 | g.38581247C>A | CA352140273 | SCN5A | c.2912G>T (p.Arg971Leu) c.2783G>T (p.Arg928Leu) | |
| 3 | g.38581247C= | CA1358574530 | SCN5A | c.2912G= (p.Arg971=) c.2783G= (p.Arg928=) | |
| 3 | g.38581247C>G | CA352140275 | SCN5A | c.2912G>C (p.Arg971Pro) c.2783G>C (p.Arg928Pro) | |
| 3 | g.38581247C>T | CA061020 | SCN5A | c.2912G>A (p.Arg971His) c.2783G>A (p.Arg928His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581248G>A | CA016616 | SCN5A | c.2911C>T (p.Arg971Cys) c.2782C>T (p.Arg928Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581248G>C | CA72926384 | SCN5A | c.2911C>G (p.Arg971Gly) c.2782C>G (p.Arg928Gly) | dbSNP gnomAD v4 |
| 3 | g.38581248G= | CA1358574532 | SCN5A | c.2911C= (p.Arg971=) c.2782C= (p.Arg928=) | |
| 3 | g.38581248G>T | CA352140278 | SCN5A | c.2911C>A (p.Arg971Ser) c.2782C>A (p.Arg928Ser) | |
| 3 | g.38581249C>A | CA433332572 | SCN5A | c.2910G>T (p.Leu970=) c.2781G>T (p.Leu927=) | |
| 3 | g.38581249C>G | CA433332573 | SCN5A | c.2910G>C (p.Leu970=) c.2781G>C (p.Leu927=) | |
| 3 | g.38581249C>T | CA433332574 | SCN5A | c.2910G>A (p.Leu970=) c.2781G>A (p.Leu927=) | |
| 3 | g.38581250A= | CA1358574534 | SCN5A | c.2909T= (p.Leu970=) c.2780T= (p.Leu927=) | |
| 3 | g.38581250A>C | CA352140283 | SCN5A | c.2909T>G (p.Leu970Arg) c.2780T>G (p.Leu927Arg) | |
| 3 | g.38581250A>G | CA72926387 | SCN5A | c.2909T>C (p.Leu970Pro) c.2780T>C (p.Leu927Pro) | dbSNP |
| 3 | g.38581250A>T | CA352140280 | SCN5A | c.2909T>A (p.Leu970Gln) c.2780T>A (p.Leu927Gln) | |
| 3 | g.38581251G>A | CA433332575 | SCN5A | c.2908C>T (p.Leu970=) c.2779C>T (p.Leu927=) | |
| 3 | g.38581251G>C | CA352140285 | SCN5A | c.2908C>G (p.Leu970Val) c.2779C>G (p.Leu927Val) | |
| 3 | g.38581251G= | CA1358574535 | SCN5A | c.2908C= (p.Leu970=) c.2779C= (p.Leu927=) | |
| 3 | g.38581251G>T | CA352140287 | SCN5A | c.2908C>A (p.Leu970Met) c.2779C>A (p.Leu927Met) | dbSNP gnomAD v2 |
| 3 | g.38581252G>A | CA433332576 | SCN5A | c.2907C>T (p.Gly969=) c.2778C>T (p.Gly926=) | dbSNP |
| 3 | g.38581252G>C | CA433332577 | SCN5A | c.2907C>G (p.Gly969=) c.2778C>G (p.Gly926=) | |
| 3 | g.38581252G= | CA1358574536 | SCN5A | c.2907C= (p.Gly969=) c.2778C= (p.Gly926=) | |
| 3 | g.38581252G>T | CA433332578 | SCN5A | c.2907C>A (p.Gly969=) c.2778C>A (p.Gly926=) | |
| 3 | g.38581253C>A | CA352140290 | SCN5A | c.2906G>T (p.Gly969Val) c.2777G>T (p.Gly926Val) | ClinVar dbSNP |
| 3 | g.38581253C= | CA1358574538 | SCN5A | c.2906G= (p.Gly969=) c.2777G= (p.Gly926=) | |
| 3 | g.38581253C>G | CA352140292 | SCN5A | c.2906G>C (p.Gly969Ala) c.2777G>C (p.Gly926Ala) | gnomAD v4 |
| 3 | g.38581253C>T | CA352140293 | SCN5A | c.2906G>A (p.Gly969Asp) c.2777G>A (p.Gly926Asp) | |
| 3 | g.38581254C>A | CA061011 | SCN5A | c.2905G>T (p.Gly969Cys) c.2776G>T (p.Gly926Cys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581254C= | CA1358574540 | SCN5A | c.2905G= (p.Gly969=) c.2776G= (p.Gly926=) | |
| 3 | g.38581254C>G | CA352140297 | SCN5A | c.2905G>C (p.Gly969Arg) c.2776G>C (p.Gly926Arg) | |
| 3 | g.38581254C>T | CA352140299 | SCN5A | c.2905G>A (p.Gly969Ser) c.2776G>A (p.Gly926Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581255C>A | CA352140301 | SCN5A | c.2904G>T (p.Arg968Ser) c.2775G>T (p.Arg925Ser) | |
| 3 | g.38581255C= | CA1358574541 | SCN5A | c.2904G= (p.Arg968=) c.2775G= (p.Arg925=) | |
| 3 | g.38581255C>G | CA352140303 | SCN5A | c.2904G>C (p.Arg968Ser) c.2775G>C (p.Arg925Ser) | |
| 3 | g.38581255C>T | CA72926392 | SCN5A | c.2904G>A (p.Arg968=) c.2775G>A (p.Arg925=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581256C>A | CA352140306 | SCN5A | c.2903G>T (p.Arg968Met) c.2774G>T (p.Arg925Met) | |
| 3 | g.38581256C>G | CA352140309 | SCN5A | c.2903G>C (p.Arg968Thr) c.2774G>C (p.Arg925Thr) | |
| 3 | g.38581256C>T | CA352140310 | SCN5A | c.2903G>A (p.Arg968Lys) c.2774G>A (p.Arg925Lys) | |
| 3 | g.38581257del | CA2665113035 | SCN5A | c.2902del (p.Arg968GlyfsTer?) c.2773del (p.Arg925GlyfsTer?) | gnomAD v4 |
| 3 | g.38581257T>A | CA352140313 | SCN5A | c.2902A>T (p.Arg968Trp) c.2773A>T (p.Arg925Trp) | |
| 3 | g.38581257T>C | CA352140311 | SCN5A | c.2902A>G (p.Arg968Gly) c.2773A>G (p.Arg925Gly) | |
| 3 | g.38581257T>G | CA433332579 | SCN5A | c.2902A>C (p.Arg968=) c.2773A>C (p.Arg925=) | |
| 3 | g.38581258C>A | CA352140315 | SCN5A | c.2901G>T (p.Gln967His) c.2772G>T (p.Gln924His) | |
| 3 | g.38581258C>G | CA352140317 | SCN5A | c.2901G>C (p.Gln967His) c.2772G>C (p.Gln924His) | gnomAD v4 |
| 3 | g.38581258C>T | CA433332580 | SCN5A | c.2901G>A (p.Gln967=) c.2772G>A (p.Gln924=) | gnomAD v4 |
| 3 | g.38581258_38581259delinsCT | CA1358574543 | SCN5A | c.2900_2901delinsAG (p.Gln967=) c.2771_2772delinsAG (p.Gln924=) | |
| 3 | g.38581259del | CA916079944 | SCN5A | c.2900del (p.Gln967ArgfsTer?) c.2771del (p.Gln924ArgfsTer?) | ClinVar dbSNP |
| 3 | g.38581259T>A | CA352140319 | SCN5A | c.2900A>T (p.Gln967Leu) c.2771A>T (p.Gln924Leu) | |
| 3 | g.38581259T>C | CA352140320 | SCN5A | c.2900A>G (p.Gln967Arg) c.2771A>G (p.Gln924Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581259T>G | CA352140322 | SCN5A | c.2900A>C (p.Gln967Pro) c.2771A>C (p.Gln924Pro) | |
| 3 | g.38581259T= | CA1358574545 | SCN5A | c.2900A= (p.Gln967=) c.2771A= (p.Gln924=) | |
| 3 | g.38581260G>A | CA352140324 | SCN5A | c.2899C>T (p.Gln967Ter) c.2770C>T (p.Gln924Ter) | |
| 3 | g.38581260G>C | CA352140325 | SCN5A | c.2899C>G (p.Gln967Glu) c.2770C>G (p.Gln924Glu) | |
| 3 | g.38581260G>T | CA352140327 | SCN5A | c.2899C>A (p.Gln967Lys) c.2770C>A (p.Gln924Lys) | |
| 3 | g.38581261G>A | CA433332581 | SCN5A | c.2898C>T (p.Ile966=) c.2769C>T (p.Ile923=) | |
| 3 | g.38581261G>C | CA352140329 | SCN5A | c.2898C>G (p.Ile966Met) c.2769C>G (p.Ile923Met) | gnomAD v4 |
| 3 | g.38581261G= | CA1358574547 | SCN5A | c.2898C= (p.Ile966=) c.2769C= (p.Ile923=) | |
| 3 | g.38581261G>T | CA433332582 | SCN5A | c.2898C>A (p.Ile966=) c.2769C>A (p.Ile923=) | dbSNP gnomAD v4 |
| 3 | g.38581262A>C | CA352140331 | SCN5A | c.2897T>G (p.Ile966Ser) c.2768T>G (p.Ile923Ser) | |
| 3 | g.38581262A>G | CA352140332 | SCN5A | c.2897T>C (p.Ile966Thr) c.2768T>C (p.Ile923Thr) | gnomAD v4 |
| 3 | g.38581262A>T | CA352140333 | SCN5A | c.2897T>A (p.Ile966Asn) c.2768T>A (p.Ile923Asn) | ClinVar |
| 3 | g.38581263T>A | CA352140336 | SCN5A | c.2896A>T (p.Ile966Phe) c.2767A>T (p.Ile923Phe) | |
| 3 | g.38581263T>C | CA352140337 | SCN5A | c.2896A>G (p.Ile966Val) c.2767A>G (p.Ile923Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581263T>G | CA352140339 | SCN5A | c.2896A>C (p.Ile966Leu) c.2767A>C (p.Ile923Leu) | |
| 3 | g.38581263T= | CA1358574549 | SCN5A | c.2896A= (p.Ile966=) c.2767A= (p.Ile923=) | |
| 3 | g.38581264G>A | CA433332583 | SCN5A | c.2895C>T (p.Arg965=) c.2766C>T (p.Arg922=) | |
| 3 | g.38581264G>C | CA433332584 | SCN5A | c.2895C>G (p.Arg965=) c.2766C>G (p.Arg922=) | |
| 3 | g.38581264G>T | CA433332585 | SCN5A | c.2895C>A (p.Arg965=) c.2766C>A (p.Arg922=) | |
| 3 | g.38581265C>A | CA016609 | SCN5A | c.2894G>T (p.Arg965Leu) c.2765G>T (p.Arg922Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581265C= | CA1358574550 | SCN5A | c.2894G= (p.Arg965=) c.2765G= (p.Arg922=) | |
| 3 | g.38581265C>G | CA352140342 | SCN5A | c.2894G>C (p.Arg965Pro) c.2765G>C (p.Arg922Pro) | |
| 3 | g.38581265C>T | CA016602 | SCN5A | c.2894G>A (p.Arg965His) c.2765G>A (p.Arg922His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581266G>A | CA016594 | SCN5A | c.2893C>T (p.Arg965Cys) c.2764C>T (p.Arg922Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38581266G>C | CA061002 | SCN5A | c.2893C>G (p.Arg965Gly) c.2764C>G (p.Arg922Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581266G= | CA1358574552 | SCN5A | c.2893C= (p.Arg965=) c.2764C= (p.Arg922=) | |
| 3 | g.38581266G>T | CA352140347 | SCN5A | c.2893C>A (p.Arg965Ser) c.2764C>A (p.Arg922Ser) | gnomAD v4 |
| 3 | g.38581267G>A | CA433332586 | SCN5A | c.2892C>T (p.Ala964=) c.2763C>T (p.Ala921=) | gnomAD v4 |
| 3 | g.38581267G>C | CA433332587 | SCN5A | c.2892C>G (p.Ala964=) c.2763C>G (p.Ala921=) | |
| 3 | g.38581267G>T | CA433332588 | SCN5A | c.2892C>A (p.Ala964=) c.2763C>A (p.Ala921=) | |
| 3 | g.38581268G>A | CA352140352 | SCN5A | c.2891C>T (p.Ala964Val) c.2762C>T (p.Ala921Val) | |
| 3 | g.38581268G>C | CA060999 | SCN5A | c.2891C>G (p.Ala964Gly) c.2762C>G (p.Ala921Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581268G= | CA1358574553 | SCN5A | c.2891C= (p.Ala964=) c.2762C= (p.Ala921=) | |
| 3 | g.38581268G>T | CA352140355 | SCN5A | c.2891C>A (p.Ala964Asp) c.2762C>A (p.Ala921Asp) | |
| 3 | g.38581269C>A | CA352140358 | SCN5A | c.2890G>T (p.Ala964Ser) c.2761G>T (p.Ala921Ser) | |
| 3 | g.38581269C= | CA1358574556 | SCN5A | c.2890G= (p.Ala964=) c.2761G= (p.Ala921=) | |
| 3 | g.38581269C>G | CA352140359 | SCN5A | c.2890G>C (p.Ala964Pro) c.2761G>C (p.Ala921Pro) | |
| 3 | g.38581269C>T | CA352140361 | SCN5A | c.2890G>A (p.Ala964Thr) c.2761G>A (p.Ala921Thr) | ClinVar dbSNP |
| 3 | g.38581270C>A | CA433332589 | SCN5A | c.2889G>T (p.Leu963=) c.2760G>T (p.Leu920=) | |
| 3 | g.38581270C= | CA1358574558 | SCN5A | c.2889G= (p.Leu963=) c.2760G= (p.Leu920=) | |
| 3 | g.38581270C>G | CA433332590 | SCN5A | c.2889G>C (p.Leu963=) c.2760G>C (p.Leu920=) | |
| 3 | g.38581270C>T | CA433332591 | SCN5A | c.2889G>A (p.Leu963=) c.2760G>A (p.Leu920=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581271A>C | CA352140363 | SCN5A | c.2888T>G (p.Leu963Arg) c.2759T>G (p.Leu920Arg) | |
| 3 | g.38581271A>G | CA352140365 | SCN5A | c.2888T>C (p.Leu963Pro) c.2759T>C (p.Leu920Pro) | |
| 3 | g.38581271A>T | CA352140367 | SCN5A | c.2888T>A (p.Leu963Gln) c.2759T>A (p.Leu920Gln) | |
| 3 | g.38581272G>A | CA433332592 | SCN5A | c.2887C>T (p.Leu963=) c.2758C>T (p.Leu920=) | |
| 3 | g.38581272G>C | CA352140369 | SCN5A | c.2887C>G (p.Leu963Val) c.2758C>G (p.Leu920Val) | gnomAD v4 |
| 3 | g.38581272G>T | CA352140371 | SCN5A | c.2887C>A (p.Leu963Met) c.2758C>A (p.Leu920Met) | |
| 3 | g.38581274del | CA433332593 | SCN5A | c.2887del (p.Leu963TrpfsTer?) c.2758del (p.Leu920TrpfsTer?) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38581273G>A | CA060996 | SCN5A | c.2886C>T (p.Ala962=) c.2757C>T (p.Ala919=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581273G>C | CA433332595 | SCN5A | c.2886C>G (p.Ala962=) c.2757C>G (p.Ala919=) | |
| 3 | g.38581273G= | CA1358574560 | SCN5A | c.2886C= (p.Ala962=) c.2757C= (p.Ala919=) | |
| 3 | g.38581273G>T | CA433332594 | SCN5A | c.2886C>A (p.Ala962=) c.2757C>A (p.Ala919=) | |
| 3 | g.38581274G>A | CA352140374 | SCN5A | c.2885C>T (p.Ala962Val) c.2756C>T (p.Ala919Val) | dbSNP |
| 3 | g.38581274G>C | CA352140376 | SCN5A | c.2885C>G (p.Ala962Gly) c.2756C>G (p.Ala919Gly) | |
| 3 | g.38581274G>T | CA352140378 | SCN5A | c.2885C>A (p.Ala962Asp) c.2756C>A (p.Ala919Asp) | |
| 3 | g.38581275C>A | CA352140380 | SCN5A | c.2884G>T (p.Ala962Ser) c.2755G>T (p.Ala919Ser) | |
| 3 | g.38581275C= | CA1358574562 | SCN5A | c.2884G= (p.Ala962=) c.2755G= (p.Ala919=) | |
| 3 | g.38581275C>G | CA352140382 | SCN5A | c.2884G>C (p.Ala962Pro) c.2755G>C (p.Ala919Pro) | gnomAD v4 |
| 3 | g.38581275C>T | CA060992 | SCN5A | c.2884G>A (p.Ala962Thr) c.2755G>A (p.Ala919Thr) | dbSNP ExAC gnomAD v4 |
| 3 | g.38581276C>A | CA433332596 | SCN5A | c.2883G>T (p.Leu961=) c.2754G>T (p.Leu918=) | ClinVar |
| 3 | g.38581276C>G | CA433332597 | SCN5A | c.2883G>C (p.Leu961=) c.2754G>C (p.Leu918=) | |
| 3 | g.38581276C>T | CA433332598 | SCN5A | c.2883G>A (p.Leu961=) c.2754G>A (p.Leu918=) | |
| 3 | g.38581277A>C | CA352140384 | SCN5A | c.2882T>G (p.Leu961Arg) c.2753T>G (p.Leu918Arg) | |
| 3 | g.38581277A>G | CA352140388 | SCN5A | c.2882T>C (p.Leu961Pro) c.2753T>C (p.Leu918Pro) | |
| 3 | g.38581277A>T | CA352140386 | SCN5A | c.2882T>A (p.Leu961Gln) c.2753T>A (p.Leu918Gln) | |
| 3 | g.38581278G>A | CA433332600 | SCN5A | c.2881C>T (p.Leu961=) c.2752C>T (p.Leu918=) | |
| 3 | g.38581278G>C | CA352140391 | SCN5A | c.2881C>G (p.Leu961Val) c.2752C>G (p.Leu918Val) | ClinVar dbSNP |
| 3 | g.38581278G= | CA1358574563 | SCN5A | c.2881C= (p.Leu961=) c.2752C= (p.Leu918=) | |
| 3 | g.38581278G>T | CA352140392 | SCN5A | c.2881C>A (p.Leu961Met) c.2752C>A (p.Leu918Met) | |
| 3 | g.38581279C>A | CA352140394 | SCN5A | c.2880G>T (p.Gln960His) c.2751G>T (p.Gln917His) | |
| 3 | g.38581279C= | CA1358574564 | SCN5A | c.2880G= (p.Gln960=) c.2751G= (p.Gln917=) | |
| 3 | g.38581279C>G | CA72926404 | SCN5A | c.2880G>C (p.Gln960His) c.2751G>C (p.Gln917His) | dbSNP gnomAD v4 |
| 3 | g.38581279C>T | CA433332605 | SCN5A | c.2880G>A (p.Gln960=) c.2751G>A (p.Gln917=) | dbSNP gnomAD v2 |
| 3 | g.38581280T>A | CA352140396 | SCN5A | c.2879A>T (p.Gln960Leu) c.2750A>T (p.Gln917Leu) | |
| 3 | g.38581280T>C | CA352140400 | SCN5A | c.2879A>G (p.Gln960Arg) c.2750A>G (p.Gln917Arg) | |
| 3 | g.38581280T>G | CA352140399 | SCN5A | c.2879A>C (p.Gln960Pro) c.2750A>C (p.Gln917Pro) | |
| 3 | g.38581281G>A | CA352140402 | SCN5A | c.2878C>T (p.Gln960Ter) c.2749C>T (p.Gln917Ter) | |
| 3 | g.38581281G>C | CA352140404 | SCN5A | c.2878C>G (p.Gln960Glu) c.2749C>G (p.Gln917Glu) | gnomAD v4 |
| 3 | g.38581281G= | CA1358574566 | SCN5A | c.2878C= (p.Gln960=) c.2749C= (p.Gln917=) | |
| 3 | g.38581281G>T | CA016586 | SCN5A | c.2878C>A (p.Gln960Lys) c.2749C>A (p.Gln917Lys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581282G>A | CA433332610 | SCN5A | c.2877C>T (p.Leu959=) c.2748C>T (p.Leu916=) | gnomAD v4 |
| 3 | g.38581282G>C | CA433332612 | SCN5A | c.2877C>G (p.Leu959=) c.2748C>G (p.Leu916=) | gnomAD v4 |
| 3 | g.38581282G>T | CA433332615 | SCN5A | c.2877C>A (p.Leu959=) c.2748C>A (p.Leu916=) | |
| 3 | g.38581283A= | CA1358574567 | SCN5A | c.2876T= (p.Leu959=) c.2747T= (p.Leu916=) | |
| 3 | g.38581283A>C | CA352140407 | SCN5A | c.2876T>G (p.Leu959Arg) c.2747T>G (p.Leu916Arg) | |
| 3 | g.38581283A>G | CA352140409 | SCN5A | c.2876T>C (p.Leu959Pro) c.2747T>C (p.Leu916Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581283A>T | CA352140410 | SCN5A | c.2876T>A (p.Leu959His) c.2747T>A (p.Leu916His) | |
| 3 | g.38581284G>A | CA352140413 | SCN5A | c.2875C>T (p.Leu959Phe) c.2746C>T (p.Leu916Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581284G>C | CA352140415 | SCN5A | c.2875C>G (p.Leu959Val) c.2746C>G (p.Leu916Val) | gnomAD v4 |
| 3 | g.38581284G= | CA1358574570 | SCN5A | c.2875C= (p.Leu959=) c.2746C= (p.Leu916=) | |
| 3 | g.38581284G>T | CA352140416 | SCN5A | c.2875C>A (p.Leu959Ile) c.2746C>A (p.Leu916Ile) | |
| 3 | g.38581285G>A | CA433332621 | SCN5A | c.2874C>T (p.Asn958=) c.2745C>T (p.Asn915=) | |
| 3 | g.38581285G>C | CA352140418 | SCN5A | c.2874C>G (p.Asn958Lys) c.2745C>G (p.Asn915Lys) | |
| 3 | g.38581285G= | CA1358574571 | SCN5A | c.2874C= (p.Asn958=) c.2745C= (p.Asn915=) | |
| 3 | g.38581285G>T | CA72926407 | SCN5A | c.2874C>A (p.Asn958Lys) c.2745C>A (p.Asn915Lys) | ClinVar dbSNP |
| 3 | g.38581288_38581290del | CA2702484102 | SCN5A | c.2872_2874del (p.Asn958del) c.2743_2745del (p.Asn915del) | dbSNP |
| 3 | g.38581286T>A | CA352140423 | SCN5A | c.2873A>T (p.Asn958Ile) c.2744A>T (p.Asn915Ile) | |
| 3 | g.38581286T>C | CA352140425 | SCN5A | c.2873A>G (p.Asn958Ser) c.2744A>G (p.Asn915Ser) | ClinVar dbSNP |
| 3 | g.38581286T>G | CA352140421 | SCN5A | c.2873A>C (p.Asn958Thr) c.2744A>C (p.Asn915Thr) | |
| 3 | g.38581286T= | CA1358574573 | SCN5A | c.2873A= (p.Asn958=) c.2744A= (p.Asn915=) | |
| 3 | g.38581287T>A | CA352140429 | SCN5A | c.2872A>T (p.Asn958Tyr) c.2743A>T (p.Asn915Tyr) | |
| 3 | g.38581287T>C | CA352140428 | SCN5A | c.2872A>G (p.Asn958Asp) c.2743A>G (p.Asn915Asp) | |
| 3 | g.38581287T>G | CA352140431 | SCN5A | c.2872A>C (p.Asn958His) c.2743A>C (p.Asn915His) | |
| 3 | g.38581288G>A | CA433332634 | SCN5A | c.2871C>T (p.Asn957=) c.2742C>T (p.Asn914=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581288G>C | CA352140433 | SCN5A | c.2871C>G (p.Asn957Lys) c.2742C>G (p.Asn914Lys) | |
| 3 | g.38581288G= | CA1358574575 | SCN5A | c.2871C= (p.Asn957=) c.2742C= (p.Asn914=) | |
| 3 | g.38581288G>T | CA352140435 | SCN5A | c.2871C>A (p.Asn957Lys) c.2742C>A (p.Asn914Lys) | |
| 3 | g.38581289T>A | CA352140437 | SCN5A | c.2870A>T (p.Asn957Ile) c.2741A>T (p.Asn914Ile) | gnomAD v4 |
| 3 | g.38581289T>C | CA352140438 | SCN5A | c.2870A>G (p.Asn957Ser) c.2741A>G (p.Asn914Ser) | gnomAD v4 |
| 3 | g.38581289T>G | CA352140441 | SCN5A | c.2870A>C (p.Asn957Thr) c.2741A>C (p.Asn914Thr) | |
| 3 | g.38581290T>A | CA352140443 | SCN5A | c.2869A>T (p.Asn957Tyr) c.2740A>T (p.Asn914Tyr) | |
| 3 | g.38581290T>C | CA352140445 | SCN5A | c.2869A>G (p.Asn957Asp) c.2740A>G (p.Asn914Asp) | gnomAD v4 |
| 3 | g.38581290T>G | CA352140448 | SCN5A | c.2869A>C (p.Asn957His) c.2740A>C (p.Asn914His) | |
| 3 | g.38581291C>A | CA352140450 | SCN5A | c.2868G>T (p.Met956Ile) c.2739G>T (p.Met913Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581291C= | CA1358574576 | SCN5A | c.2868G= (p.Met956=) c.2739G= (p.Met913=) | |
| 3 | g.38581291C>G | CA352140453 | SCN5A | c.2868G>C (p.Met956Ile) c.2739G>C (p.Met913Ile) | |
| 3 | g.38581291C>T | CA352140454 | SCN5A | c.2868G>A (p.Met956Ile) c.2739G>A (p.Met913Ile) | |
| 3 | g.38581292A= | CA1358574577 | SCN5A | c.2867T= (p.Met956=) c.2738T= (p.Met913=) | |
| 3 | g.38581292A>C | CA352140460 | SCN5A | c.2867T>G (p.Met956Arg) c.2738T>G (p.Met913Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581292A>G | CA352140459 | SCN5A | c.2867T>C (p.Met956Thr) c.2738T>C (p.Met913Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581292A>T | CA352140457 | SCN5A | c.2867T>A (p.Met956Lys) c.2738T>A (p.Met913Lys) | |
| 3 | g.38581292_38581294delinsATC | CA1358574579 | SCN5A | c.2865_2867delinsGAT (p.Glu955=) c.2736_2738delinsGAT (p.Glu912=) | |
| 3 | g.38581293T>A | CA352140462 | SCN5A | c.2866A>T (p.Met956Leu) c.2737A>T (p.Met913Leu) | ClinVar |
| 3 | g.38581293T>C | CA352140465 | SCN5A | c.2866A>G (p.Met956Val) c.2737A>G (p.Met913Val) | ClinVar |
| 3 | g.38581293T>G | CA352140467 | SCN5A | c.2866A>C (p.Met956Leu) c.2737A>C (p.Met913Leu) | gnomAD v4 |
| 3 | g.38581298_38581299del | CA060987 | SCN5A | c.2865_2866del (p.Glu955AspfsTer?) c.2736_2737del (p.Glu912AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581294C>A | CA352140471 | SCN5A | c.2865G>T (p.Glu955Asp) c.2736G>T (p.Glu912Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581294C= | CA1358574583 | SCN5A | c.2865G= (p.Glu955=) c.2736G= (p.Glu912=) | |
| 3 | g.38581294C>G | CA352140472 | SCN5A | c.2865G>C (p.Glu955Asp) c.2736G>C (p.Glu912Asp) | |
| 3 | g.38581294C>T | CA433332656 | SCN5A | c.2865G>A (p.Glu955=) c.2736G>A (p.Glu912=) | gnomAD v4 |
| 3 | g.38581295T>A | CA352140474 | SCN5A | c.2864A>T (p.Glu955Val) c.2735A>T (p.Glu912Val) | |
| 3 | g.38581295T>C | CA352140476 | SCN5A | c.2864A>G (p.Glu955Gly) c.2735A>G (p.Glu912Gly) | |
| 3 | g.38581295T>G | CA352140478 | SCN5A | c.2864A>C (p.Glu955Ala) c.2735A>C (p.Glu912Ala) | |
| 3 | g.38581296C>A | CA352140480 | SCN5A | c.2863G>T (p.Glu955Ter) c.2734G>T (p.Glu912Ter) | dbSNP |
| 3 | g.38581296C= | CA1358574584 | SCN5A | c.2863G= (p.Glu955=) c.2734G= (p.Glu912=) | |
| 3 | g.38581296C>G | CA352140482 | SCN5A | c.2863G>C (p.Glu955Gln) c.2734G>C (p.Glu912Gln) | |
| 3 | g.38581296C>T | CA352140484 | SCN5A | c.2863G>A (p.Glu955Lys) c.2734G>A (p.Glu912Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38581297T>A | CA352140487 | SCN5A | c.2862A>T (p.Arg954Ser) c.2733A>T (p.Arg911Ser) | |
| 3 | g.38581297T>C | CA433332663 | SCN5A | c.2862A>G (p.Arg954=) c.2733A>G (p.Arg911=) | |
| 3 | g.38581297T>G | CA352140485 | SCN5A | c.2862A>C (p.Arg954Ser) c.2733A>C (p.Arg911Ser) | |
| 3 | g.38581298C>A | CA352140490 | SCN5A | c.2861G>T (p.Arg954Ile) c.2732G>T (p.Arg911Ile) | |
| 3 | g.38581298C>G | CA352140491 | SCN5A | c.2861G>C (p.Arg954Thr) c.2732G>C (p.Arg911Thr) | |
| 3 | g.38581298C>T | CA352140493 | SCN5A | c.2861G>A (p.Arg954Lys) c.2732G>A (p.Arg911Lys) | gnomAD v4 |
| 3 | g.38581298_38581299delinsCT | CA1358574586 | SCN5A | c.2860_2861delinsAG (p.Arg954=) c.2731_2732delinsAG (p.Arg911=) | |
| 3 | g.38581299del | CA1139657966 | SCN5A | c.2860del (p.Arg954GlufsTer3) c.2731del (p.Arg911GlufsTer3) | ClinVar dbSNP |
| 3 | g.38581299T>A | CA352140495 | SCN5A | c.2860A>T (p.Arg954Ter) c.2731A>T (p.Arg911Ter) | dbSNP |
| 3 | g.38581299T>C | CA352140497 | SCN5A | c.2860A>G (p.Arg954Gly) c.2731A>G (p.Arg911Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581299T>G | CA433332669 | SCN5A | c.2860A>C (p.Arg954=) c.2731A>C (p.Arg911=) | |
| 3 | g.38581299T= | CA1358574587 | SCN5A | c.2860A= (p.Arg954=) c.2731A= (p.Arg911=) | |
| 3 | g.38581300G>A | CA433332672 | SCN5A | c.2859C>T (p.Asp953=) c.2730C>T (p.Asp910=) | |
| 3 | g.38581300G>C | CA016578 | SCN5A | c.2859C>G (p.Asp953Glu) c.2730C>G (p.Asp910Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581300G= | CA1358574588 | SCN5A | c.2859C= (p.Asp953=) c.2730C= (p.Asp910=) | |
| 3 | g.38581300G>T | CA352140500 | SCN5A | c.2859C>A (p.Asp953Glu) c.2730C>A (p.Asp910Glu) | |
| 3 | g.38581301T>A | CA352140502 | SCN5A | c.2858A>T (p.Asp953Val) c.2729A>T (p.Asp910Val) | |
| 3 | g.38581301T>C | CA352140504 | SCN5A | c.2858A>G (p.Asp953Gly) c.2729A>G (p.Asp910Gly) | ClinVar |
| 3 | g.38581301T>G | CA352140506 | SCN5A | c.2858A>C (p.Asp953Ala) c.2729A>C (p.Asp910Ala) | |
| 3 | g.38581302C>A | CA060979 | SCN5A | c.2857G>T (p.Asp953Tyr) c.2728G>T (p.Asp910Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581302C= | CA1358574590 | SCN5A | c.2857G= (p.Asp953=) c.2728G= (p.Asp910=) | |
| 3 | g.38581302C>G | CA352140509 | SCN5A | c.2857G>C (p.Asp953His) c.2728G>C (p.Asp910His) | |
| 3 | g.38581302C>T | CA352140511 | SCN5A | c.2857G>A (p.Asp953Asn) c.2728G>A (p.Asp910Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38581303C>A | CA352140515 | SCN5A | c.2856G>T (p.Glu952Asp) c.2727G>T (p.Glu909Asp) | |
| 3 | g.38581303C>G | CA352140513 | SCN5A | c.2856G>C (p.Glu952Asp) c.2727G>C (p.Glu909Asp) | |
| 3 | g.38581303C>T | CA433332677 | SCN5A | c.2856G>A (p.Glu952=) c.2727G>A (p.Glu909=) | gnomAD v4 |
| 3 | g.38581304T>A | CA352140517 | SCN5A | c.2855A>T (p.Glu952Val) c.2726A>T (p.Glu909Val) | |
| 3 | g.38581304T>C | CA352140522 | SCN5A | c.2855A>G (p.Glu952Gly) c.2726A>G (p.Glu909Gly) | |
| 3 | g.38581304T>G | CA352140524 | SCN5A | c.2855A>C (p.Glu952Ala) c.2726A>C (p.Glu909Ala) | |
| 3 | g.38581305C>A | CA352140526 | SCN5A | c.2854G>T (p.Glu952Ter) c.2725G>T (p.Glu909Ter) | dbSNP |
| 3 | g.38581305C= | CA1358574592 | SCN5A | c.2854G= (p.Glu952=) c.2725G= (p.Glu909=) | |
| 3 | g.38581305C>G | CA352140528 | SCN5A | c.2854G>C (p.Glu952Gln) c.2725G>C (p.Glu909Gln) | |
| 3 | g.38581305C>T | CA060975 | SCN5A | c.2854G>A (p.Glu952Lys) c.2725G>A (p.Glu909Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581306A= | CA1358574594 | SCN5A | c.2853T= (p.Asp951=) c.2724T= (p.Asp908=) | |
| 3 | g.38581306A>C | CA352140531 | SCN5A | c.2853T>G (p.Asp951Glu) c.2724T>G (p.Asp908Glu) | gnomAD v4 |
| 3 | g.38581306A>G | CA433332686 | SCN5A | c.2853T>C (p.Asp951=) c.2724T>C (p.Asp908=) | dbSNP |
| 3 | g.38581306A>T | CA352140533 | SCN5A | c.2853T>A (p.Asp951Glu) c.2724T>A (p.Asp908Glu) | |
| 3 | g.38581307T>A | CA352140536 | SCN5A | c.2852A>T (p.Asp951Val) c.2723A>T (p.Asp908Val) | |
| 3 | g.38581307T>C | CA352140537 | SCN5A | c.2852A>G (p.Asp951Gly) c.2723A>G (p.Asp908Gly) | |
| 3 | g.38581307T>G | CA352140540 | SCN5A | c.2852A>C (p.Asp951Ala) c.2723A>C (p.Asp908Ala) | |
| 3 | g.38581308C>A | CA352140542 | SCN5A | c.2851G>T (p.Asp951Tyr) c.2722G>T (p.Asp908Tyr) | |
| 3 | g.38581308C>G | CA352140544 | SCN5A | c.2851G>C (p.Asp951His) c.2722G>C (p.Asp908His) | |
| 3 | g.38581308C>T | CA352140546 | SCN5A | c.2851G>A (p.Asp951Asn) c.2722G>A (p.Asp908Asn) | COSMIC COSMIC COSMIC |
| 3 | g.38581309del | CA2586972021 | SCN5A | c.2850del (p.Asp951MetfsTer6) c.2721del (p.Asp908MetfsTer6) | |
| 3 | g.38581309A>C | CA433332688 | SCN5A | c.2850T>G (p.Pro950=) c.2721T>G (p.Pro907=) | |
| 3 | g.38581309A>G | CA433332689 | SCN5A | c.2850T>C (p.Pro950=) c.2721T>C (p.Pro907=) | |
| 3 | g.38581309A>T | CA433332690 | SCN5A | c.2850T>A (p.Pro950=) c.2721T>A (p.Pro907=) | dbSNP |
| 3 | g.38581309_38581310del | CA2573052156 | SCN5A | c.2849_2850del (p.Pro950ArgfsTer2) c.2720_2721del (p.Pro907ArgfsTer2) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581310G>A | CA352140551 | SCN5A | c.2849C>T (p.Pro950Leu) c.2720C>T (p.Pro907Leu) | |
| 3 | g.38581310G>C | CA352140553 | SCN5A | c.2849C>G (p.Pro950Arg) c.2720C>G (p.Pro907Arg) | |
| 3 | g.38581310G>T | CA352140548 | SCN5A | c.2849C>A (p.Pro950His) c.2720C>A (p.Pro907His) | |
| 3 | g.38581311G>A | CA016569 | SCN5A | c.2848C>T (p.Pro950Ser) c.2719C>T (p.Pro907Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581311G>C | CA352140555 | SCN5A | c.2848C>G (p.Pro950Ala) c.2719C>G (p.Pro907Ala) | |
| 3 | g.38581311G= | CA1358574597 | SCN5A | c.2848C= (p.Pro950=) c.2719C= (p.Pro907=) | |
| 3 | g.38581311G>T | CA352140557 | SCN5A | c.2848C>A (p.Pro950Thr) c.2719C>A (p.Pro907Thr) | |
| 3 | g.38581312G>A | CA433332691 | SCN5A | c.2847C>T (p.Ala949=) c.2718C>T (p.Ala906=) | ClinVar |
| 3 | g.38581312G>C | CA72926422 | SCN5A | c.2847C>G (p.Ala949=) c.2718C>G (p.Ala906=) | ClinVar dbSNP |
| 3 | g.38581312G= | CA1358574599 | SCN5A | c.2847C= (p.Ala949=) c.2718C= (p.Ala906=) | |
| 3 | g.38581312G>T | CA433332693 | SCN5A | c.2847C>A (p.Ala949=) c.2718C>A (p.Ala906=) | |
| 3 | g.38581313G>A | CA352140562 | SCN5A | c.2846C>T (p.Ala949Val) c.2717C>T (p.Ala906Val) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581313G>C | CA352140564 | SCN5A | c.2846C>G (p.Ala949Gly) c.2717C>G (p.Ala906Gly) | |
| 3 | g.38581313G= | CA1358574602 | SCN5A | c.2846C= (p.Ala949=) c.2717C= (p.Ala906=) | |
| 3 | g.38581313G>T | CA016562 | SCN5A | c.2846C>A (p.Ala949Asp) c.2717C>A (p.Ala906Asp) | ClinVar dbSNP |
| 3 | g.38581314C>A | CA352140567 | SCN5A | c.2845G>T (p.Ala949Ser) c.2716G>T (p.Ala906Ser) | |
| 3 | g.38581314C>G | CA352140569 | SCN5A | c.2845G>C (p.Ala949Pro) c.2716G>C (p.Ala906Pro) | |
| 3 | g.38581314C>T | CA352140571 | SCN5A | c.2845G>A (p.Ala949Thr) c.2716G>A (p.Ala906Thr) | |
| 3 | g.38581315T>A | CA433332696 | SCN5A | c.2844A>T (p.Thr948=) c.2715A>T (p.Thr905=) | |
| 3 | g.38581315T>C | CA433332698 | SCN5A | c.2844A>G (p.Thr948=) c.2715A>G (p.Thr905=) | dbSNP |
| 3 | g.38581315T>G | CA433332699 | SCN5A | c.2844A>C (p.Thr948=) c.2715A>C (p.Thr905=) | |
| 3 | g.38581315T= | CA1358574606 | SCN5A | c.2844A= (p.Thr948=) c.2715A= (p.Thr905=) | |
| 3 | g.38581316G>A | CA352140573 | SCN5A | c.2843C>T (p.Thr948Ile) c.2714C>T (p.Thr905Ile) | |
| 3 | g.38581316G>C | CA352140576 | SCN5A | c.2843C>G (p.Thr948Arg) c.2714C>G (p.Thr905Arg) | |
| 3 | g.38581316G>T | CA352140577 | SCN5A | c.2843C>A (p.Thr948Lys) c.2714C>A (p.Thr905Lys) | |
| 3 | g.38581317T>A | CA352140581 | SCN5A | c.2842A>T (p.Thr948Ser) c.2713A>T (p.Thr905Ser) | |
| 3 | g.38581317T>C | CA352140583 | SCN5A | c.2842A>G (p.Thr948Ala) c.2713A>G (p.Thr905Ala) | |
| 3 | g.38581317T>G | CA352140579 | SCN5A | c.2842A>C (p.Thr948Pro) c.2713A>C (p.Thr905Pro) | gnomAD v4 |
| 3 | g.38581318G>A | CA433332703 | SCN5A | c.2841C>T (p.Leu947=) c.2712C>T (p.Leu904=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581318G>C | CA433332704 | SCN5A | c.2841C>G (p.Leu947=) c.2712C>G (p.Leu904=) | ClinVar gnomAD v4 |
| 3 | g.38581318G= | CA1358574608 | SCN5A | c.2841C= (p.Leu947=) c.2712C= (p.Leu904=) | |
| 3 | g.38581318G>T | CA433332705 | SCN5A | c.2841C>A (p.Leu947=) c.2712C>A (p.Leu904=) | |
| 3 | g.38581319A>C | CA352140584 | SCN5A | c.2840T>G (p.Leu947Arg) c.2711T>G (p.Leu904Arg) | |
| 3 | g.38581319A>G | CA352140586 | SCN5A | c.2840T>C (p.Leu947Pro) c.2711T>C (p.Leu904Pro) | |
| 3 | g.38581319A>T | CA352140588 | SCN5A | c.2840T>A (p.Leu947His) c.2711T>A (p.Leu904His) | |
| 3 | g.38581320G>A | CA352140591 | SCN5A | c.2839C>T (p.Leu947Phe) c.2710C>T (p.Leu904Phe) | gnomAD v4 |
| 3 | g.38581320G>C | CA352140593 | SCN5A | c.2839C>G (p.Leu947Val) c.2710C>G (p.Leu904Val) | |
| 3 | g.38581320G>T | CA352140595 | SCN5A | c.2839C>A (p.Leu947Ile) c.2710C>A (p.Leu904Ile) | |
| 3 | g.38581321G>A | CA433332706 | SCN5A | c.2838C>T (p.Asn946=) c.2709C>T (p.Asn903=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581321G>C | CA352140597 | SCN5A | c.2838C>G (p.Asn946Lys) c.2709C>G (p.Asn903Lys) | |
| 3 | g.38581321G= | CA1358574610 | SCN5A | c.2838C= (p.Asn946=) c.2709C= (p.Asn903=) | |
| 3 | g.38581321G>T | CA352140599 | SCN5A | c.2838C>A (p.Asn946Lys) c.2709C>A (p.Asn903Lys) | gnomAD v4 |
| 3 | g.38581322T>A | CA352140601 | SCN5A | c.2837A>T (p.Asn946Ile) c.2708A>T (p.Asn903Ile) | |
| 3 | g.38581322T>C | CA352140603 | SCN5A | c.2837A>G (p.Asn946Ser) c.2708A>G (p.Asn903Ser) | |
| 3 | g.38581322T>G | CA352140605 | SCN5A | c.2837A>C (p.Asn946Thr) c.2708A>C (p.Asn903Thr) | ClinVar dbSNP |
| 3 | g.38581322T= | CA1358574612 | SCN5A | c.2837A= (p.Asn946=) c.2708A= (p.Asn903=) | |
| 3 | g.38581323T>A | CA352140607 | SCN5A | c.2836A>T (p.Asn946Tyr) c.2707A>T (p.Asn903Tyr) | |
| 3 | g.38581323T>C | CA352140609 | SCN5A | c.2836A>G (p.Asn946Asp) c.2707A>G (p.Asn903Asp) | |
| 3 | g.38581323T>G | CA352140610 | SCN5A | c.2836A>C (p.Asn946His) c.2707A>C (p.Asn903His) | |
| 3 | g.38581324G>A | CA433332708 | SCN5A | c.2835C>T (p.Asp945=) c.2706C>T (p.Asp902=) | ClinVar dbSNP |
| 3 | g.38581324G>C | CA352140613 | SCN5A | c.2835C>G (p.Asp945Glu) c.2706C>G (p.Asp902Glu) | |
| 3 | g.38581324G= | CA1358574615 | SCN5A | c.2835C= (p.Asp945=) c.2706C= (p.Asp902=) | |
| 3 | g.38581324G>T | CA352140615 | SCN5A | c.2835C>A (p.Asp945Glu) c.2706C>A (p.Asp902Glu) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581325T>A | CA352140617 | SCN5A | c.2834A>T (p.Asp945Val) c.2705A>T (p.Asp902Val) | |
| 3 | g.38581325T>C | CA060962 | SCN5A | c.2834A>G (p.Asp945Gly) c.2705A>G (p.Asp902Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581325T>G | CA352140619 | SCN5A | c.2834A>C (p.Asp945Ala) c.2705A>C (p.Asp902Ala) | |
| 3 | g.38581325T= | CA1358574619 | SCN5A | c.2834A= (p.Asp945=) c.2705A= (p.Asp902=) | |
| 3 | g.38581326C>A | CA352140622 | SCN5A | c.2833G>T (p.Asp945Tyr) c.2704G>T (p.Asp902Tyr) | |
| 3 | g.38581326C>G | CA352140624 | SCN5A | c.2833G>C (p.Asp945His) c.2704G>C (p.Asp902His) | |
| 3 | g.38581326C>T | CA352140625 | SCN5A | c.2833G>A (p.Asp945Asn) c.2704G>A (p.Asp902Asn) | |
| 3 | g.38581327T>A | CA433332711 | SCN5A | c.2832A>T (p.Ala944=) c.2703A>T (p.Ala901=) | |
| 3 | g.38581327T>C | CA433332713 | SCN5A | c.2832A>G (p.Ala944=) c.2703A>G (p.Ala901=) | gnomAD v4 |
| 3 | g.38581327T>G | CA433332714 | SCN5A | c.2832A>C (p.Ala944=) c.2703A>C (p.Ala901=) | |
| 3 | g.38581328G>A | CA352140627 | SCN5A | c.2831C>T (p.Ala944Val) c.2702C>T (p.Ala901Val) | |
| 3 | g.38581328G>C | CA352140629 | SCN5A | c.2831C>G (p.Ala944Gly) c.2702C>G (p.Ala901Gly) | |
| 3 | g.38581328G>T | CA352140631 | SCN5A | c.2831C>A (p.Ala944Glu) c.2702C>A (p.Ala901Glu) | |
| 3 | g.38581329C>A | CA352140633 | SCN5A | c.2830G>T (p.Ala944Ser) c.2701G>T (p.Ala901Ser) | |
| 3 | g.38581329C>G | CA352140635 | SCN5A | c.2830G>C (p.Ala944Pro) c.2701G>C (p.Ala901Pro) | |
| 3 | g.38581329C>T | CA352140637 | SCN5A | c.2830G>A (p.Ala944Thr) c.2701G>A (p.Ala901Thr) | gnomAD v4 |
| 3 | g.38581330A>C | CA352140639 | SCN5A | c.2829T>G (p.Ser943Arg) c.2700T>G (p.Ser900Arg) | |
| 3 | g.38581330A>G | CA433332718 | SCN5A | c.2829T>C (p.Ser943=) c.2700T>C (p.Ser900=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581330A>T | CA352140641 | SCN5A | c.2829T>A (p.Ser943Arg) c.2700T>A (p.Ser900Arg) | |
| 3 | g.38581331C>A | CA352140647 | SCN5A | c.2828G>T (p.Ser943Ile) c.2699G>T (p.Ser900Ile) | |
| 3 | g.38581331C= | CA1358574621 | SCN5A | c.2828G= (p.Ser943=) c.2699G= (p.Ser900=) | |
| 3 | g.38581331C>G | CA352140645 | SCN5A | c.2828G>C (p.Ser943Thr) c.2699G>C (p.Ser900Thr) | |
| 3 | g.38581331C>T | CA352140643 | SCN5A | c.2828G>A (p.Ser943Asn) c.2699G>A (p.Ser900Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581332T>A | CA352140648 | SCN5A | c.2827A>T (p.Ser943Cys) c.2698A>T (p.Ser900Cys) | |
| 3 | g.38581332T>C | CA352140650 | SCN5A | c.2827A>G (p.Ser943Gly) c.2698A>G (p.Ser900Gly) | |
| 3 | g.38581332T>G | CA352140652 | SCN5A | c.2827A>C (p.Ser943Arg) c.2698A>C (p.Ser900Arg) | |
| 3 | g.38581333G>A | CA060958 | SCN5A | c.2826C>T (p.Phe942=) c.2697C>T (p.Phe899=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581333G>C | CA352140655 | SCN5A | c.2826C>G (p.Phe942Leu) c.2697C>G (p.Phe899Leu) | |
| 3 | g.38581333G= | CA1358574623 | SCN5A | c.2826C= (p.Phe942=) c.2697C= (p.Phe899=) | |
| 3 | g.38581333G>T | CA352140657 | SCN5A | c.2826C>A (p.Phe942Leu) c.2697C>A (p.Phe899Leu) | |
| 3 | g.38581334A>C | CA352140660 | SCN5A | c.2825T>G (p.Phe942Cys) c.2696T>G (p.Phe899Cys) | |
| 3 | g.38581334A>G | CA352140661 | SCN5A | c.2825T>C (p.Phe942Ser) c.2696T>C (p.Phe899Ser) | |
| 3 | g.38581334A>T | CA352140664 | SCN5A | c.2825T>A (p.Phe942Tyr) c.2696T>A (p.Phe899Tyr) | |
| 3 | g.38581335A>C | CA352140666 | SCN5A | c.2824T>G (p.Phe942Val) c.2695T>G (p.Phe899Val) | |
| 3 | g.38581335A>G | CA352140669 | SCN5A | c.2824T>C (p.Phe942Leu) c.2695T>C (p.Phe899Leu) | gnomAD v4 |
| 3 | g.38581335A>T | CA352140671 | SCN5A | c.2824T>A (p.Phe942Ile) c.2695T>A (p.Phe899Ile) | |
| 3 | g.38581336G>A | CA433332723 | SCN5A | c.2823C>T (p.Ser941=) c.2694C>T (p.Ser898=) | |
| 3 | g.38581336G>C | CA433332725 | SCN5A | c.2823C>G (p.Ser941=) c.2694C>G (p.Ser898=) | gnomAD v4 |
| 3 | g.38581336G>T | CA433332726 | SCN5A | c.2823C>A (p.Ser941=) c.2694C>A (p.Ser898=) | |
| 3 | g.38581337G>A | CA352140676 | SCN5A | c.2822C>T (p.Ser941Phe) c.2693C>T (p.Ser898Phe) | ClinVar |
| 3 | g.38581337G>C | CA352140678 | SCN5A | c.2822C>G (p.Ser941Cys) c.2693C>G (p.Ser898Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581337G= | CA1358574633 | SCN5A | c.2822C= (p.Ser941=) c.2693C= (p.Ser898=) | |
| 3 | g.38581337G>T | CA352140674 | SCN5A | c.2822C>A (p.Ser941Tyr) c.2693C>A (p.Ser898Tyr) | |
| 3 | g.38581337_38581338delinsAT | CA2573136282 | SCN5A | c.2821_2822delinsAT (p.Ser941Ile) c.2692_2693delinsAT (p.Ser898Ile) | ClinVar dbSNP |
| 3 | g.38581337_38581338delinsGA | CA1358574630 | SCN5A | c.2821_2822delinsTC (p.Ser941=) c.2692_2693delinsTC (p.Ser898=) | |
| 3 | g.38581337_38581338delinsTT | CA016545 | SCN5A | c.2821_2822delinsAA (p.Ser941Asn) c.2692_2693delinsAA (p.Ser898Asn) | ClinVar dbSNP |