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.38581178G>A | CA352139981 | SCN5A | c.2981C>T (p.Ala994Val) c.2852C>T (p.Ala951Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581178G>C | CA352139983 | SCN5A | c.2981C>G (p.Ala994Gly) c.2852C>G (p.Ala951Gly) | |
| 3 | g.38581178G= | CA1358574451 | SCN5A | c.2981C= (p.Ala994=) c.2852C= (p.Ala951=) | |
| 3 | g.38581178G>T | CA352139985 | SCN5A | c.2981C>A (p.Ala994Asp) c.2852C>A (p.Ala951Asp) | |
| 3 | g.38581179C>A | CA352139988 | SCN5A | c.2980G>T (p.Ala994Ser) c.2851G>T (p.Ala951Ser) | |
| 3 | g.38581179C= | CA1358574452 | SCN5A | c.2980G= (p.Ala994=) c.2851G= (p.Ala951=) | |
| 3 | g.38581179C>G | CA352139990 | SCN5A | c.2980G>C (p.Ala994Pro) c.2851G>C (p.Ala951Pro) | |
| 3 | g.38581179C>T | CA352139991 | SCN5A | c.2980G>A (p.Ala994Thr) c.2851G>A (p.Ala951Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581180T>A | CA433332530 | SCN5A | c.2979A>T (p.Ala993=) c.2850A>T (p.Ala950=) | |
| 3 | g.38581180T>C | CA433332531 | SCN5A | c.2979A>G (p.Ala993=) c.2850A>G (p.Ala950=) | |
| 3 | g.38581180T>G | CA433332532 | SCN5A | c.2979A>C (p.Ala993=) c.2850A>C (p.Ala950=) | |
| 3 | g.38581181G>A | CA352139994 | SCN5A | c.2978C>T (p.Ala993Val) c.2849C>T (p.Ala950Val) | |
| 3 | g.38581181G>C | CA352139996 | SCN5A | c.2978C>G (p.Ala993Gly) c.2849C>G (p.Ala950Gly) | |
| 3 | g.38581181G>T | CA352139997 | SCN5A | c.2978C>A (p.Ala993Glu) c.2849C>A (p.Ala950Glu) | gnomAD v4 |
| 3 | g.38581182C>A | CA352139999 | SCN5A | c.2977G>T (p.Ala993Ser) c.2848G>T (p.Ala950Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581182C= | CA1358574453 | SCN5A | c.2977G= (p.Ala993=) c.2848G= (p.Ala950=) | |
| 3 | g.38581182C>G | CA352140001 | SCN5A | c.2977G>C (p.Ala993Pro) c.2848G>C (p.Ala950Pro) | ClinVar |
| 3 | g.38581182C>T | CA061107 | SCN5A | c.2977G>A (p.Ala993Thr) c.2848G>A (p.Ala950Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581183G>A | CA016703 | SCN5A | c.2976C>T (p.Pro992=) c.2847C>T (p.Pro949=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581183G>C | CA433332534 | SCN5A | c.2976C>G (p.Pro992=) c.2847C>G (p.Pro949=) | |
| 3 | g.38581183G= | CA1358574456 | SCN5A | c.2976C= (p.Pro992=) c.2847C= (p.Pro949=) | |
| 3 | g.38581183G>T | CA433332533 | SCN5A | c.2976C>A (p.Pro992=) c.2847C>A (p.Pro949=) | |
| 3 | g.38581185dup | CA2665113033 | SCN5A | c.2976dup (p.Ala993ArgfsTer?) c.2847dup (p.Ala950ArgfsTer?) | gnomAD v4 |
| 3 | g.38581184G>A | CA72926345 | SCN5A | c.2975C>T (p.Pro992Leu) c.2846C>T (p.Pro949Leu) | dbSNP gnomAD v4 |
| 3 | g.38581184G>C | CA352140006 | SCN5A | c.2975C>G (p.Pro992Arg) c.2846C>G (p.Pro949Arg) | |
| 3 | g.38581184G= | CA1358574458 | SCN5A | c.2975C= (p.Pro992=) c.2846C= (p.Pro949=) | |
| 3 | g.38581184G>T | CA352140010 | SCN5A | c.2975C>A (p.Pro992His) c.2846C>A (p.Pro949His) | gnomAD v4 |
| 3 | g.38581185G>A | CA352140013 | SCN5A | c.2974C>T (p.Pro992Ser) c.2845C>T (p.Pro949Ser) | |
| 3 | g.38581185G>C | CA352140015 | SCN5A | c.2974C>G (p.Pro992Ala) c.2845C>G (p.Pro949Ala) | |
| 3 | g.38581185G>T | CA352140017 | SCN5A | c.2974C>A (p.Pro992Thr) c.2845C>A (p.Pro949Thr) | ClinVar dbSNP |
| 3 | g.38581186C>A | CA352140019 | SCN5A | c.2973G>T (p.Lys991Asn) c.2844G>T (p.Lys948Asn) | dbSNP |
| 3 | g.38581186C= | CA1358574460 | SCN5A | c.2973G= (p.Lys991=) c.2844G= (p.Lys948=) | |
| 3 | g.38581186C>G | CA352140020 | SCN5A | c.2973G>C (p.Lys991Asn) c.2844G>C (p.Lys948Asn) | |
| 3 | g.38581186C>T | CA16617950 | SCN5A | c.2973G>A (p.Lys991=) c.2844G>A (p.Lys948=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38581187T>A | CA352140022 | SCN5A | c.2972A>T (p.Lys991Met) c.2843A>T (p.Lys948Met) | |
| 3 | g.38581187T>C | CA352140023 | SCN5A | c.2972A>G (p.Lys991Arg) c.2843A>G (p.Lys948Arg) | |
| 3 | g.38581187T>G | CA352140025 | SCN5A | c.2972A>C (p.Lys991Thr) c.2843A>C (p.Lys948Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38581187T= | CA1358574462 | SCN5A | c.2972A= (p.Lys991=) c.2843A= (p.Lys948=) | |
| 3 | g.38581187_38581188del | CA2825001218 | SCN5A | c.2971_2972del (p.Lys991AlafsTer?) c.2842_2843del (p.Lys948AlafsTer?) | ClinVar |
| 3 | g.38581188T>A | CA352140028 | SCN5A | c.2971A>T (p.Lys991Ter) c.2842A>T (p.Lys948Ter) | dbSNP |
| 3 | g.38581188T>C | CA061101 | SCN5A | c.2971A>G (p.Lys991Glu) c.2842A>G (p.Lys948Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581188T>G | CA352140030 | SCN5A | c.2971A>C (p.Lys991Gln) c.2842A>C (p.Lys948Gln) | |
| 3 | g.38581188T= | CA1358574464 | SCN5A | c.2971A= (p.Lys991=) c.2842A= (p.Lys948=) | |
| 3 | g.38581189C>A | CA352140035 | SCN5A | c.2970G>T (p.Gln990His) c.2841G>T (p.Gln947His) | |
| 3 | g.38581189C= | CA1358574465 | SCN5A | c.2970G= (p.Gln990=) c.2841G= (p.Gln947=) | |
| 3 | g.38581189C>G | CA352140033 | SCN5A | c.2970G>C (p.Gln990His) c.2841G>C (p.Gln947His) | |
| 3 | g.38581189C>T | CA061096 | SCN5A | c.2970G>A (p.Gln990=) c.2841G>A (p.Gln947=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581190T>A | CA352140037 | SCN5A | c.2969A>T (p.Gln990Leu) c.2840A>T (p.Gln947Leu) | |
| 3 | g.38581190T>C | CA352140039 | SCN5A | c.2969A>G (p.Gln990Arg) c.2840A>G (p.Gln947Arg) | |
| 3 | g.38581190T>G | CA352140041 | SCN5A | c.2969A>C (p.Gln990Pro) c.2840A>C (p.Gln947Pro) | |
| 3 | g.38581191G>A | CA352140043 | SCN5A | c.2968C>T (p.Gln990Ter) c.2839C>T (p.Gln947Ter) | ClinVar dbSNP |
| 3 | g.38581191G>C | CA352140045 | SCN5A | c.2968C>G (p.Gln990Glu) c.2839C>G (p.Gln947Glu) | |
| 3 | g.38581191G= | CA1358574467 | SCN5A | c.2968C= (p.Gln990=) c.2839C= (p.Gln947=) | |
| 3 | g.38581191G>T | CA352140047 | SCN5A | c.2968C>A (p.Gln990Lys) c.2839C>A (p.Gln947Lys) | |
| 3 | g.38581192A>C | CA433332535 | SCN5A | c.2967T>G (p.Pro989=) c.2838T>G (p.Pro946=) | |
| 3 | g.38581192A>G | CA433332536 | SCN5A | c.2967T>C (p.Pro989=) c.2838T>C (p.Pro946=) | |
| 3 | g.38581192A>T | CA433332537 | SCN5A | c.2967T>A (p.Pro989=) c.2838T>A (p.Pro946=) | |
| 3 | g.38581193G>A | CA061091 | SCN5A | c.2966C>T (p.Pro989Leu) c.2837C>T (p.Pro946Leu) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 3 | g.38581193G>C | CA352140050 | SCN5A | c.2966C>G (p.Pro989Arg) c.2837C>G (p.Pro946Arg) | |
| 3 | g.38581193G= | CA1358574469 | SCN5A | c.2966C= (p.Pro989=) c.2837C= (p.Pro946=) | |
| 3 | g.38581193G>T | CA352140052 | SCN5A | c.2966C>A (p.Pro989His) c.2837C>A (p.Pro946His) | |
| 3 | g.38581194G>A | CA352140054 | SCN5A | c.2965C>T (p.Pro989Ser) c.2836C>T (p.Pro946Ser) | ClinVar |
| 3 | g.38581194G>C | CA352140056 | SCN5A | c.2965C>G (p.Pro989Ala) c.2836C>G (p.Pro946Ala) | ClinVar dbSNP |
| 3 | g.38581194G= | CA1358574471 | SCN5A | c.2965C= (p.Pro989=) c.2836C= (p.Pro946=) | |
| 3 | g.38581194G>T | CA352140058 | SCN5A | c.2965C>A (p.Pro989Thr) c.2836C>A (p.Pro946Thr) | |
| 3 | g.38581195C>A | CA433332538 | SCN5A | c.2964G>T (p.Arg988=) c.2835G>T (p.Arg945=) | gnomAD v4 |
| 3 | g.38581195C>G | CA433332539 | SCN5A | c.2964G>C (p.Arg988=) c.2835G>C (p.Arg945=) | |
| 3 | g.38581195C>T | CA433332540 | SCN5A | c.2964G>A (p.Arg988=) c.2835G>A (p.Arg945=) | |
| 3 | g.38581196C>A | CA352140061 | SCN5A | c.2963G>T (p.Arg988Leu) c.2834G>T (p.Arg945Leu) | gnomAD v4 |
| 3 | g.38581196C= | CA1358574474 | SCN5A | c.2963G= (p.Arg988=) c.2834G= (p.Arg945=) | |
| 3 | g.38581196C>G | CA352140063 | SCN5A | c.2963G>C (p.Arg988Pro) c.2834G>C (p.Arg945Pro) | |
| 3 | g.38581196C>T | CA016691 | SCN5A | c.2963G>A (p.Arg988Gln) c.2834G>A (p.Arg945Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581197G>A | CA016684 | SCN5A | c.2962C>T (p.Arg988Trp) c.2833C>T (p.Arg945Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581197G>C | CA352140066 | SCN5A | c.2962C>G (p.Arg988Gly) c.2833C>G (p.Arg945Gly) | |
| 3 | g.38581197G= | CA1358574477 | SCN5A | c.2962C= (p.Arg988=) c.2833C= (p.Arg945=) | |
| 3 | g.38581197G>T | CA433332541 | SCN5A | c.2962C>A (p.Arg988=) c.2833C>A (p.Arg945=) | ClinVar dbSNP |
| 3 | g.38581198C>A | CA352140067 | SCN5A | c.2961G>T (p.Gln987His) c.2832G>T (p.Gln944His) | |
| 3 | g.38581198C= | CA1358574479 | SCN5A | c.2961G= (p.Gln987=) c.2832G= (p.Gln944=) | |
| 3 | g.38581198C>G | CA72926354 | SCN5A | c.2961G>C (p.Gln987His) c.2832G>C (p.Gln944His) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581198C>T | CA061074 | SCN5A | c.2961G>A (p.Gln987=) c.2832G>A (p.Gln944=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581199T>A | CA352140075 | SCN5A | c.2960A>T (p.Gln987Leu) c.2831A>T (p.Gln944Leu) | |
| 3 | g.38581199T>C | CA352140071 | SCN5A | c.2960A>G (p.Gln987Arg) c.2831A>G (p.Gln944Arg) | |
| 3 | g.38581199T>G | CA352140073 | SCN5A | c.2960A>C (p.Gln987Pro) c.2831A>C (p.Gln944Pro) | |
| 3 | g.38581200G>A | CA352140077 | SCN5A | c.2959C>T (p.Gln987Ter) c.2830C>T (p.Gln944Ter) | gnomAD v4 |
| 3 | g.38581200G>C | CA352140078 | SCN5A | c.2959C>G (p.Gln987Glu) c.2830C>G (p.Gln944Glu) | |
| 3 | g.38581200G>T | CA352140080 | SCN5A | c.2959C>A (p.Gln987Lys) c.2830C>A (p.Gln944Lys) | |
| 3 | g.38581201C>A | CA433332542 | SCN5A | c.2958G>T (p.Arg986=) c.2829G>T (p.Arg943=) | |
| 3 | g.38581201C>G | CA433332543 | SCN5A | c.2958G>C (p.Arg986=) c.2829G>C (p.Arg943=) | |
| 3 | g.38581201C>T | CA433332544 | SCN5A | c.2958G>A (p.Arg986=) c.2829G>A (p.Arg943=) | gnomAD v4 |
| 3 | g.38581202C>A | CA352140082 | SCN5A | c.2957G>T (p.Arg986Leu) c.2828G>T (p.Arg943Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581202C= | CA1358574480 | SCN5A | c.2957G= (p.Arg986=) c.2828G= (p.Arg943=) | |
| 3 | g.38581202C>G | CA352140084 | SCN5A | c.2957G>C (p.Arg986Pro) c.2828G>C (p.Arg943Pro) | |
| 3 | g.38581202C>T | CA016672 | SCN5A | c.2957G>A (p.Arg986Gln) c.2828G>A (p.Arg943Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581203G>A | CA016660 | SCN5A | c.2956C>T (p.Arg986Trp) c.2827C>T (p.Arg943Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581203G>C | CA352140089 | SCN5A | c.2956C>G (p.Arg986Gly) c.2827C>G (p.Arg943Gly) | |
| 3 | g.38581203G= | CA1358574482 | SCN5A | c.2956C= (p.Arg986=) c.2827C= (p.Arg943=) | |
| 3 | g.38581203G>T | CA433332545 | SCN5A | c.2956C>A (p.Arg986=) c.2827C>A (p.Arg943=) | gnomAD v4 |
| 3 | g.38581204C>A | CA433332546 | SCN5A | c.2955G>T (p.Leu985=) c.2826G>T (p.Leu942=) | |
| 3 | g.38581204C= | CA1358574484 | SCN5A | c.2955G= (p.Leu985=) c.2826G= (p.Leu942=) | |
| 3 | g.38581204C>G | CA433332547 | SCN5A | c.2955G>C (p.Leu985=) c.2826G>C (p.Leu942=) | |
| 3 | g.38581204C>T | CA061068 | SCN5A | c.2955G>A (p.Leu985=) c.2826G>A (p.Leu942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581205del | CA913188094 | SCN5A | c.2954del (p.Leu985ArgfsTer?) c.2825del (p.Leu942ArgfsTer?) | ClinVar |
| 3 | g.38581205A>C | CA352140092 | SCN5A | c.2954T>G (p.Leu985Arg) c.2825T>G (p.Leu942Arg) | |
| 3 | g.38581205A>G | CA352140094 | SCN5A | c.2954T>C (p.Leu985Pro) c.2825T>C (p.Leu942Pro) | ClinVar |
| 3 | g.38581205A>T | CA352140096 | SCN5A | c.2954T>A (p.Leu985Gln) c.2825T>A (p.Leu942Gln) | |
| 3 | g.38581207_38581209del | CA2665113034 | SCN5A | c.2952_2954del (p.Leu985del) c.2823_2825del (p.Leu942del) | gnomAD v4 |
| 3 | g.38581206G>A | CA061064 | SCN5A | c.2953C>T (p.Leu985=) c.2824C>T (p.Leu942=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581206G>C | CA352140099 | SCN5A | c.2953C>G (p.Leu985Val) c.2824C>G (p.Leu942Val) | |
| 3 | g.38581206G= | CA1358574486 | SCN5A | c.2953C= (p.Leu985=) c.2824C= (p.Leu942=) | |
| 3 | g.38581206G>T | CA352140101 | SCN5A | c.2953C>A (p.Leu985Met) c.2824C>A (p.Leu942Met) | |
| 3 | g.38581207dup | CA2586972018 | SCN5A | c.2953dup (p.Leu985ProfsTer?) c.2824dup (p.Leu942ProfsTer?) | |
| 3 | g.38581207G>A | CA433332548 | SCN5A | c.2952C>T (p.Leu984=) c.2823C>T (p.Leu941=) | ClinVar gnomAD v4 |
| 3 | g.38581207G>C | CA433332549 | SCN5A | c.2952C>G (p.Leu984=) c.2823C>G (p.Leu941=) | |
| 3 | g.38581207G>T | CA433332550 | SCN5A | c.2952C>A (p.Leu984=) c.2823C>A (p.Leu941=) | |
| 3 | g.38581208A>C | CA352140104 | SCN5A | c.2951T>G (p.Leu984Arg) c.2822T>G (p.Leu941Arg) | |
| 3 | g.38581208A>G | CA352140107 | SCN5A | c.2951T>C (p.Leu984Pro) c.2822T>C (p.Leu941Pro) | ClinVar |
| 3 | g.38581208A>T | CA352140106 | SCN5A | c.2951T>A (p.Leu984His) c.2822T>A (p.Leu941His) | |
| 3 | g.38581211_38581220dup | CA2586972019 | SCN5A | c.2942_2951dup (p.Arg986TrpfsTer?) c.2813_2822dup (p.Arg943TrpfsTer?) | |
| 3 | g.38581209G>A | CA352140109 | SCN5A | c.2950C>T (p.Leu984Phe) c.2821C>T (p.Leu941Phe) | gnomAD v4 |
| 3 | g.38581209G>C | CA352140110 | SCN5A | c.2950C>G (p.Leu984Val) c.2821C>G (p.Leu941Val) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581209G= | CA1358574488 | SCN5A | c.2950C= (p.Leu984=) c.2821C= (p.Leu941=) | |
| 3 | g.38581209G>T | CA352140112 | SCN5A | c.2950C>A (p.Leu984Ile) c.2821C>A (p.Leu941Ile) | |
| 3 | g.38581210A= | CA1358574490 | SCN5A | c.2949T= (p.Gly983=) c.2820T= (p.Gly940=) | |
| 3 | g.38581210A>C | CA433332551 | SCN5A | c.2949T>G (p.Gly983=) c.2820T>G (p.Gly940=) | gnomAD v4 |
| 3 | g.38581210A>G | CA433332552 | SCN5A | c.2949T>C (p.Gly983=) c.2820T>C (p.Gly940=) | |
| 3 | g.38581210A>T | CA061054 | SCN5A | c.2949T>A (p.Gly983=) c.2820T>A (p.Gly940=) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581210_38581211del | CA2531235771 | SCN5A | c.2948_2949del (p.Gly983AlafsTer?) c.2819_2820del (p.Gly940AlafsTer?) | |
| 3 | g.38581211C>A | CA352140119 | SCN5A | c.2948G>T (p.Gly983Val) c.2819G>T (p.Gly940Val) | |
| 3 | g.38581211C= | CA1358574492 | SCN5A | c.2948G= (p.Gly983=) c.2819G= (p.Gly940=) | |
| 3 | g.38581211C>G | CA352140116 | SCN5A | c.2948G>C (p.Gly983Ala) c.2819G>C (p.Gly940Ala) | |
| 3 | g.38581211C>T | CA061050 | SCN5A | c.2948G>A (p.Gly983Asp) c.2819G>A (p.Gly940Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581212C>A | CA352140120 | SCN5A | c.2947G>T (p.Gly983Cys) c.2818G>T (p.Gly940Cys) | |
| 3 | g.38581212C>G | CA352140122 | SCN5A | c.2947G>C (p.Gly983Arg) c.2818G>C (p.Gly940Arg) | |
| 3 | g.38581212C>T | CA352140124 | SCN5A | c.2947G>A (p.Gly983Ser) c.2818G>A (p.Gly940Ser) | |
| 3 | g.38581213A= | CA1358574493 | SCN5A | c.2946T= (p.Cys982=) c.2817T= (p.Cys939=) | |
| 3 | g.38581213A>C | CA352140125 | SCN5A | c.2946T>G (p.Cys982Trp) c.2817T>G (p.Cys939Trp) | |
| 3 | g.38581213A>G | CA433332553 | SCN5A | c.2946T>C (p.Cys982=) c.2817T>C (p.Cys939=) | |
| 3 | g.38581213A>T | CA352140126 | SCN5A | c.2946T>A (p.Cys982Ter) c.2817T>A (p.Cys939Ter) | ClinVar dbSNP |
| 3 | g.38581214C>A | CA352140128 | SCN5A | c.2945G>T (p.Cys982Phe) c.2816G>T (p.Cys939Phe) | |
| 3 | g.38581214C= | CA1358574495 | SCN5A | c.2945G= (p.Cys982=) c.2816G= (p.Cys939=) | |
| 3 | g.38581214C>G | CA352140130 | SCN5A | c.2945G>C (p.Cys982Ser) c.2816G>C (p.Cys939Ser) | |
| 3 | g.38581214C>T | CA352140132 | SCN5A | c.2945G>A (p.Cys982Tyr) c.2816G>A (p.Cys939Tyr) | ClinVar dbSNP |
| 3 | g.38581214_38581215insGC | CA2565886970 | SCN5A | c.2945_2946insCG (p.Gly983ValfsTer?) c.2816_2817insCG (p.Gly940ValfsTer?) | |
| 3 | g.38581215A= | CA1358574497 | SCN5A | c.2944T= (p.Cys982=) c.2815T= (p.Cys939=) | |
| 3 | g.38581215A>C | CA352140134 | SCN5A | c.2944T>G (p.Cys982Gly) c.2815T>G (p.Cys939Gly) | |
| 3 | g.38581215A>G | CA016652 | SCN5A | c.2944T>C (p.Cys982Arg) c.2815T>C (p.Cys939Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581215A>T | CA352140137 | SCN5A | c.2944T>A (p.Cys982Ser) c.2815T>A (p.Cys939Ser) | |
| 3 | g.38581216G>A | CA433332554 | SCN5A | c.2943C>T (p.Cys981=) c.2814C>T (p.Cys938=) | |
| 3 | g.38581216G>C | CA352140139 | SCN5A | c.2943C>G (p.Cys981Trp) c.2814C>G (p.Cys938Trp) | |
| 3 | g.38581216G>T | CA352140141 | SCN5A | c.2943C>A (p.Cys981Ter) c.2814C>A (p.Cys938Ter) | |
| 3 | g.38581217C>A | CA016644 | SCN5A | c.2942G>T (p.Cys981Phe) c.2813G>T (p.Cys938Phe) | ClinVar dbSNP |
| 3 | g.38581217C= | CA1358574500 | SCN5A | c.2942G= (p.Cys981=) c.2813G= (p.Cys938=) | |
| 3 | g.38581217C>G | CA352140145 | SCN5A | c.2942G>C (p.Cys981Ser) c.2813G>C (p.Cys938Ser) | |
| 3 | g.38581217C>T | CA352140144 | SCN5A | c.2942G>A (p.Cys981Tyr) c.2813G>A (p.Cys938Tyr) | gnomAD v4 |
| 3 | g.38581218A>C | CA352140148 | SCN5A | c.2941T>G (p.Cys981Gly) c.2812T>G (p.Cys938Gly) | |
| 3 | g.38581218A>G | CA352140150 | SCN5A | c.2941T>C (p.Cys981Arg) c.2812T>C (p.Cys938Arg) | |
| 3 | g.38581218A>T | CA352140151 | SCN5A | c.2941T>A (p.Cys981Ser) c.2812T>A (p.Cys938Ser) | |
| 3 | g.38581219G>A | CA433332555 | SCN5A | c.2940C>T (p.Phe980=) c.2811C>T (p.Phe937=) | |
| 3 | g.38581219G>C | CA352140154 | SCN5A | c.2940C>G (p.Phe980Leu) c.2811C>G (p.Phe937Leu) | |
| 3 | g.38581219G>T | CA352140155 | SCN5A | c.2940C>A (p.Phe980Leu) c.2811C>A (p.Phe937Leu) | |
| 3 | g.38581220A>C | CA352140157 | SCN5A | c.2939T>G (p.Phe980Cys) c.2810T>G (p.Phe937Cys) | |
| 3 | g.38581220A>G | CA352140159 | SCN5A | c.2939T>C (p.Phe980Ser) c.2810T>C (p.Phe937Ser) | |
| 3 | g.38581220A>T | CA352140161 | SCN5A | c.2939T>A (p.Phe980Tyr) c.2810T>A (p.Phe937Tyr) | |
| 3 | g.38581221A>C | CA352140163 | SCN5A | c.2938T>G (p.Phe980Val) c.2809T>G (p.Phe937Val) | |
| 3 | g.38581221A>G | CA352140165 | SCN5A | c.2938T>C (p.Phe980Leu) c.2809T>C (p.Phe937Leu) | |
| 3 | g.38581221A>T | CA352140167 | SCN5A | c.2938T>A (p.Phe980Ile) c.2809T>A (p.Phe937Ile) | |
| 3 | g.38581222A= | CA1358574502 | SCN5A | c.2937T= (p.Asp979=) c.2808T= (p.Asp936=) | |
| 3 | g.38581222A>C | CA352140169 | SCN5A | c.2937T>G (p.Asp979Glu) c.2808T>G (p.Asp936Glu) | |
| 3 | g.38581222A>G | CA433332556 | SCN5A | c.2937T>C (p.Asp979=) c.2808T>C (p.Asp936=) | |
| 3 | g.38581222A>T | CA352140171 | SCN5A | c.2937T>A (p.Asp979Glu) c.2808T>A (p.Asp936Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38581223T>A | CA352140176 | SCN5A | c.2936A>T (p.Asp979Val) c.2807A>T (p.Asp936Val) | |
| 3 | g.38581223T>C | CA352140173 | SCN5A | c.2936A>G (p.Asp979Gly) c.2807A>G (p.Asp936Gly) | dbSNP gnomAD v2 |
| 3 | g.38581223T>G | CA352140175 | SCN5A | c.2936A>C (p.Asp979Ala) c.2807A>C (p.Asp936Ala) | |
| 3 | g.38581223T= | CA1358574503 | SCN5A | c.2936A= (p.Asp979=) c.2807A= (p.Asp936=) | |
| 3 | g.38581224C>A | CA352140178 | SCN5A | c.2935G>T (p.Asp979Tyr) c.2806G>T (p.Asp936Tyr) | |
| 3 | g.38581224C= | CA1358574505 | SCN5A | c.2935G= (p.Asp979=) c.2806G= (p.Asp936=) | |
| 3 | g.38581224C>G | CA061043 | SCN5A | c.2935G>C (p.Asp979His) c.2806G>C (p.Asp936His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581224C>T | CA72926366 | SCN5A | c.2935G>A (p.Asp979Asn) c.2806G>A (p.Asp936Asn) | dbSNP |
| 3 | g.38581225C>A | CA352140179 | SCN5A | c.2934G>T (p.Trp978Cys) c.2805G>T (p.Trp935Cys) | |
| 3 | g.38581225C= | CA1358574507 | SCN5A | c.2934G= (p.Trp978=) c.2805G= (p.Trp935=) | |
| 3 | g.38581225C>G | CA352140180 | SCN5A | c.2934G>C (p.Trp978Cys) c.2805G>C (p.Trp935Cys) | |
| 3 | g.38581225C>T | CA352140182 | SCN5A | c.2934G>A (p.Trp978Ter) c.2805G>A (p.Trp935Ter) | dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38581226C>A | CA352140184 | SCN5A | c.2933G>T (p.Trp978Leu) c.2804G>T (p.Trp935Leu) | |
| 3 | g.38581226C= | CA1358574510 | SCN5A | c.2933G= (p.Trp978=) c.2804G= (p.Trp935=) | |
| 3 | g.38581226C>G | CA352140186 | SCN5A | c.2933G>C (p.Trp978Ser) c.2804G>C (p.Trp935Ser) | |
| 3 | g.38581226C>T | CA16611275 | SCN5A | c.2933G>A (p.Trp978Ter) c.2804G>A (p.Trp935Ter) | ClinVar dbSNP |
| 3 | g.38581227A>C | CA352140189 | SCN5A | c.2932T>G (p.Trp978Gly) c.2803T>G (p.Trp935Gly) | |
| 3 | g.38581227A>G | CA352140191 | SCN5A | c.2932T>C (p.Trp978Arg) c.2803T>C (p.Trp935Arg) | |
| 3 | g.38581227A>T | CA352140193 | SCN5A | c.2932T>A (p.Trp978Arg) c.2803T>A (p.Trp935Arg) | |
| 3 | g.38581228G>A | CA433332557 | SCN5A | c.2931C>T (p.Thr977=) c.2802C>T (p.Thr934=) | |
| 3 | g.38581228G>C | CA061039 | SCN5A | c.2931C>G (p.Thr977=) c.2802C>G (p.Thr934=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38581228G= | CA1358574512 | SCN5A | c.2931C= (p.Thr977=) c.2802C= (p.Thr934=) | |
| 3 | g.38581228G>T | CA433332558 | SCN5A | c.2931C>A (p.Thr977=) c.2802C>A (p.Thr934=) | |
| 3 | g.38581229G>A | CA352140197 | SCN5A | c.2930C>T (p.Thr977Ile) c.2801C>T (p.Thr934Ile) | |
| 3 | g.38581229G>C | CA352140195 | SCN5A | c.2930C>G (p.Thr977Ser) c.2801C>G (p.Thr934Ser) | |
| 3 | g.38581229G>T | CA352140199 | SCN5A | c.2930C>A (p.Thr977Asn) c.2801C>A (p.Thr934Asn) | |
| 3 | g.38581230T>A | CA352140202 | SCN5A | c.2929A>T (p.Thr977Ser) c.2800A>T (p.Thr934Ser) | gnomAD v4 |
| 3 | g.38581230T>C | CA352140206 | SCN5A | c.2929A>G (p.Thr977Ala) c.2800A>G (p.Thr934Ala) | |
| 3 | g.38581230T>G | CA352140203 | SCN5A | c.2929A>C (p.Thr977Pro) c.2800A>C (p.Thr934Pro) | |
| 3 | g.38581231G>A | CA433332559 | SCN5A | c.2928C>T (p.Thr976=) c.2799C>T (p.Thr933=) | |
| 3 | g.38581231G>C | CA433332560 | SCN5A | c.2928C>G (p.Thr976=) c.2799C>G (p.Thr933=) | |
| 3 | g.38581231G>T | CA433332561 | SCN5A | c.2928C>A (p.Thr976=) c.2799C>A (p.Thr933=) | |
| 3 | g.38581232G>A | CA352140208 | SCN5A | c.2927C>T (p.Thr976Ile) c.2798C>T (p.Thr933Ile) | |
| 3 | g.38581232G>C | CA352140212 | SCN5A | c.2927C>G (p.Thr976Ser) c.2798C>G (p.Thr933Ser) | |
| 3 | g.38581232G>T | CA352140209 | SCN5A | c.2927C>A (p.Thr976Asn) c.2798C>A (p.Thr933Asn) | |
| 3 | g.38581233T>A | CA352140214 | SCN5A | c.2926A>T (p.Thr976Ser) c.2797A>T (p.Thr933Ser) | |
| 3 | g.38581233T>C | CA352140216 | SCN5A | c.2926A>G (p.Thr976Ala) c.2797A>G (p.Thr933Ala) | |
| 3 | g.38581233T>G | CA352140217 | SCN5A | c.2926A>C (p.Thr976Pro) c.2797A>C (p.Thr933Pro) | |
| 3 | g.38581234C>A | CA433332562 | SCN5A | c.2925G>T (p.Arg975=) c.2796G>T (p.Arg932=) | gnomAD v4 |
| 3 | g.38581234C= | CA1358574514 | SCN5A | c.2925G= (p.Arg975=) c.2796G= (p.Arg932=) | |
| 3 | g.38581234C>G | CA72926371 | SCN5A | c.2925G>C (p.Arg975=) c.2796G>C (p.Arg932=) | ClinVar dbSNP |
| 3 | g.38581234C>T | CA433332563 | SCN5A | c.2925G>A (p.Arg975=) c.2796G>A (p.Arg932=) | ClinVar dbSNP |
| 3 | g.38581235C>A | CA352140220 | SCN5A | c.2924G>T (p.Arg975Leu) c.2795G>T (p.Arg932Leu) | |
| 3 | g.38581235C= | CA1358574517 | SCN5A | c.2924G= (p.Arg975=) c.2795G= (p.Arg932=) | |
| 3 | g.38581235C>G | CA352140222 | SCN5A | c.2924G>C (p.Arg975Pro) c.2795G>C (p.Arg932Pro) | ClinVar dbSNP |
| 3 | g.38581235C>T | CA016636 | SCN5A | c.2924G>A (p.Arg975Gln) c.2795G>A (p.Arg932Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38581236G>A | CA016625 | SCN5A | c.2923C>T (p.Arg975Trp) c.2794C>T (p.Arg932Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38581236G>C | CA352140226 | SCN5A | c.2923C>G (p.Arg975Gly) c.2794C>G (p.Arg932Gly) | |
| 3 | g.38581236G= | CA1358574519 | SCN5A | c.2923C= (p.Arg975=) c.2794C= (p.Arg932=) | |
| 3 | g.38581236G>T | CA433332564 | SCN5A | c.2923C>A (p.Arg975=) c.2794C>A (p.Arg932=) | ClinVar |
| 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=) | ClinVar 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) |