| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.38587515_38587517del | CA2586972032 | SCN5A | c.2327_2329del (p.Tyr776del) c.2198_2200del (p.Tyr733del) | |
| 3 | g.38587514G>A | CA060217 | SCN5A | c.2322C>T (p.Tyr774=) c.2193C>T (p.Tyr731=) | dbSNP ExAC gnomAD v2 |
| 3 | g.38587514G>C | CA352143427 | SCN5A | c.2322C>G (p.Tyr774Ter) c.2193C>G (p.Tyr731Ter) | |
| 3 | g.38587514G= | CA1358578188 | SCN5A | c.2322C= (p.Tyr774=) c.2193C= (p.Tyr731=) | |
| 3 | g.38587514G>T | CA352143428 | SCN5A | c.2322C>A (p.Tyr774Ter) c.2193C>A (p.Tyr731Ter) | COSMIC COSMIC COSMIC |
| 3 | g.38587515T>A | CA352143429 | SCN5A | c.2321A>T (p.Tyr774Phe) c.2192A>T (p.Tyr731Phe) | |
| 3 | g.38587515T>C | CA352143430 | SCN5A | c.2321A>G (p.Tyr774Cys) c.2192A>G (p.Tyr731Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587515T>G | CA352143431 | SCN5A | c.2321A>C (p.Tyr774Ser) c.2192A>C (p.Tyr731Ser) | |
| 3 | g.38587515T= | CA1358578189 | SCN5A | c.2321A= (p.Tyr774=) c.2192A= (p.Tyr731=) | |
| 3 | g.38587516del | CA2499216739 | SCN5A | c.2320del (p.Tyr774ThrfsTer28) c.2191del (p.Tyr731ThrfsTer28) | ClinVar dbSNP |
| 3 | g.38587516A= | CA1358578190 | SCN5A | c.2320T= (p.Tyr774=) c.2191T= (p.Tyr731=) | |
| 3 | g.38587516A>C | CA352143432 | SCN5A | c.2320T>G (p.Tyr774Asp) c.2191T>G (p.Tyr731Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587516A>G | CA352143433 | SCN5A | c.2320T>C (p.Tyr774His) c.2191T>C (p.Tyr731His) | |
| 3 | g.38587516A>T | CA352143434 | SCN5A | c.2320T>A (p.Tyr774Asn) c.2191T>A (p.Tyr731Asn) | |
| 3 | g.38587517G>A | CA433136357 | SCN5A | c.2319C>T (p.Pro773=) c.2190C>T (p.Pro730=) | |
| 3 | g.38587517G>C | CA433136358 | SCN5A | c.2319C>G (p.Pro773=) c.2190C>G (p.Pro730=) | |
| 3 | g.38587517G>T | CA433136359 | SCN5A | c.2319C>A (p.Pro773=) c.2190C>A (p.Pro730=) | |
| 3 | g.38587518G>A | CA352143436 | SCN5A | c.2318C>T (p.Pro773Leu) c.2189C>T (p.Pro730Leu) | COSMIC COSMIC COSMIC |
| 3 | g.38587518G>C | CA352143437 | SCN5A | c.2318C>G (p.Pro773Arg) c.2189C>G (p.Pro730Arg) | ClinVar dbSNP |
| 3 | g.38587518G= | CA1358578191 | SCN5A | c.2318C= (p.Pro773=) c.2189C= (p.Pro730=) | |
| 3 | g.38587518G>T | CA352143435 | SCN5A | c.2318C>A (p.Pro773His) c.2189C>A (p.Pro730His) | |
| 3 | g.38587519G>A | CA016076 | SCN5A | c.2317C>T (p.Pro773Ser) c.2188C>T (p.Pro730Ser) | ClinVar dbSNP |
| 3 | g.38587519G>C | CA352143438 | SCN5A | c.2317C>G (p.Pro773Ala) c.2188C>G (p.Pro730Ala) | |
| 3 | g.38587519G= | CA1358578192 | SCN5A | c.2317C= (p.Pro773=) c.2188C= (p.Pro730=) | |
| 3 | g.38587519G>T | CA352143439 | SCN5A | c.2317C>A (p.Pro773Thr) c.2188C>A (p.Pro730Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587520G>A | CA433136363 | SCN5A | c.2316C>T (p.Asp772=) c.2187C>T (p.Asp729=) | |
| 3 | g.38587520G>C | CA352143440 | SCN5A | c.2316C>G (p.Asp772Glu) c.2187C>G (p.Asp729Glu) | |
| 3 | g.38587520G>T | CA352143441 | SCN5A | c.2316C>A (p.Asp772Glu) c.2187C>A (p.Asp729Glu) | ClinVar gnomAD v4 |
| 3 | g.38587521T>A | CA352143442 | SCN5A | c.2315A>T (p.Asp772Val) c.2186A>T (p.Asp729Val) | |
| 3 | g.38587521T>C | CA352143443 | SCN5A | c.2315A>G (p.Asp772Gly) c.2186A>G (p.Asp729Gly) | gnomAD v4 |
| 3 | g.38587521T>G | CA352143444 | SCN5A | c.2315A>C (p.Asp772Ala) c.2186A>C (p.Asp729Ala) | |
| 3 | g.38587522C>A | CA352143445 | SCN5A | c.2314G>T (p.Asp772Tyr) c.2185G>T (p.Asp729Tyr) | |
| 3 | g.38587522C= | CA1358578193 | SCN5A | c.2314G= (p.Asp772=) c.2185G= (p.Asp729=) | |
| 3 | g.38587522C>G | CA352143446 | SCN5A | c.2314G>C (p.Asp772His) c.2185G>C (p.Asp729His) | |
| 3 | g.38587522C>T | CA016059 | SCN5A | c.2314G>A (p.Asp772Asn) c.2185G>A (p.Asp729Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587523G>A | CA10576616 | SCN5A | c.2313C>T (p.Leu771=) c.2184C>T (p.Leu728=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587523G>C | CA433136368 | SCN5A | c.2313C>G (p.Leu771=) c.2184C>G (p.Leu728=) | ClinVar |
| 3 | g.38587523G= | CA1358578194 | SCN5A | c.2313C= (p.Leu771=) c.2184C= (p.Leu728=) | |
| 3 | g.38587523G>T | CA433136369 | SCN5A | c.2313C>A (p.Leu771=) c.2184C>A (p.Leu728=) | |
| 3 | g.38587524A>C | CA352143447 | SCN5A | c.2312T>G (p.Leu771Arg) c.2183T>G (p.Leu728Arg) | |
| 3 | g.38587524A>G | CA352143448 | SCN5A | c.2312T>C (p.Leu771Pro) c.2183T>C (p.Leu728Pro) | |
| 3 | g.38587524A>T | CA352143449 | SCN5A | c.2312T>A (p.Leu771His) c.2183T>A (p.Leu728His) | |
| 3 | g.38587525G>A | CA352143450 | SCN5A | c.2311C>T (p.Leu771Phe) c.2182C>T (p.Leu728Phe) | gnomAD v4 |
| 3 | g.38587525G>C | CA352143452 | SCN5A | c.2311C>G (p.Leu771Val) c.2182C>G (p.Leu728Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587525G= | CA1358578195 | SCN5A | c.2311C= (p.Leu771=) c.2182C= (p.Leu728=) | |
| 3 | g.38587525G>T | CA352143451 | SCN5A | c.2311C>A (p.Leu771Ile) c.2182C>A (p.Leu728Ile) | |
| 3 | g.38587526G>A | CA433136374 | SCN5A | c.2310C>T (p.Ala770=) c.2181C>T (p.Ala727=) | ClinVar gnomAD v4 |
| 3 | g.38587526G>C | CA433136376 | SCN5A | c.2310C>G (p.Ala770=) c.2181C>G (p.Ala727=) | |
| 3 | g.38587526G>T | CA433136375 | SCN5A | c.2310C>A (p.Ala770=) c.2181C>A (p.Ala727=) | |
| 3 | g.38587527G>A | CA352143453 | SCN5A | c.2309C>T (p.Ala770Val) c.2180C>T (p.Ala727Val) | gnomAD v4 |
| 3 | g.38587527G>C | CA352143454 | SCN5A | c.2309C>G (p.Ala770Gly) c.2180C>G (p.Ala727Gly) | |
| 3 | g.38587527G>T | CA352143455 | SCN5A | c.2309C>A (p.Ala770Asp) c.2180C>A (p.Ala727Asp) | |
| 3 | g.38587528C>A | CA352143456 | SCN5A | c.2308G>T (p.Ala770Ser) c.2179G>T (p.Ala727Ser) | |
| 3 | g.38587528C>G | CA352143457 | SCN5A | c.2308G>C (p.Ala770Pro) c.2179G>C (p.Ala727Pro) | |
| 3 | g.38587528C>T | CA352143458 | SCN5A | c.2308G>A (p.Ala770Thr) c.2179G>A (p.Ala727Thr) | |
| 3 | g.38587529A>C | CA352143459 | SCN5A | c.2307T>G (p.Ile769Met) c.2178T>G (p.Ile726Met) | |
| 3 | g.38587529A>G | CA433136378 | SCN5A | c.2307T>C (p.Ile769=) c.2178T>C (p.Ile726=) | |
| 3 | g.38587529A>T | CA433136379 | SCN5A | c.2307T>A (p.Ile769=) c.2178T>A (p.Ile726=) | |
| 3 | g.38587530A>C | CA352143460 | SCN5A | c.2306T>G (p.Ile769Ser) c.2177T>G (p.Ile726Ser) | |
| 3 | g.38587530A>G | CA352143461 | SCN5A | c.2306T>C (p.Ile769Thr) c.2177T>C (p.Ile726Thr) | |
| 3 | g.38587530A>T | CA352143462 | SCN5A | c.2306T>A (p.Ile769Asn) c.2177T>A (p.Ile726Asn) | |
| 3 | g.38587531T>A | CA352143465 | SCN5A | c.2305A>T (p.Ile769Phe) c.2176A>T (p.Ile726Phe) | |
| 3 | g.38587531T>C | CA352143464 | SCN5A | c.2305A>G (p.Ile769Val) c.2176A>G (p.Ile726Val) | |
| 3 | g.38587531T>G | CA352143463 | SCN5A | c.2305A>C (p.Ile769Leu) c.2176A>C (p.Ile726Leu) | |
| 3 | g.38587532G>A | CA433136381 | SCN5A | c.2304C>T (p.Ile768=) c.2175C>T (p.Ile725=) | |
| 3 | g.38587532G>C | CA352143466 | SCN5A | c.2304C>G (p.Ile768Met) c.2175C>G (p.Ile725Met) | |
| 3 | g.38587532G>T | CA433136382 | SCN5A | c.2304C>A (p.Ile768=) c.2175C>A (p.Ile725=) | |
| 3 | g.38587533A>C | CA352143467 | SCN5A | c.2303T>G (p.Ile768Ser) c.2174T>G (p.Ile725Ser) | |
| 3 | g.38587533A>G | CA352143468 | SCN5A | c.2303T>C (p.Ile768Thr) c.2174T>C (p.Ile725Thr) | |
| 3 | g.38587533A>T | CA352143469 | SCN5A | c.2303T>A (p.Ile768Asn) c.2174T>A (p.Ile725Asn) | |
| 3 | g.38587534T>A | CA352143470 | SCN5A | c.2302A>T (p.Ile768Phe) c.2173A>T (p.Ile725Phe) | |
| 3 | g.38587534T>C | CA352143471 | SCN5A | c.2302A>G (p.Ile768Val) c.2173A>G (p.Ile725Val) | ClinVar dbSNP |
| 3 | g.38587534T>G | CA352143472 | SCN5A | c.2302A>C (p.Ile768Leu) c.2173A>C (p.Ile725Leu) | |
| 3 | g.38587535C>A | CA352143473 | SCN5A | c.2301G>T (p.Lys767Asn) c.2172G>T (p.Lys724Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587535C>G | CA352143474 | SCN5A | c.2301G>C (p.Lys767Asn) c.2172G>C (p.Lys724Asn) | |
| 3 | g.38587535C>T | CA433136384 | SCN5A | c.2301G>A (p.Lys767=) c.2172G>A (p.Lys724=) | |
| 3 | g.38587536T>A | CA352143475 | SCN5A | c.2300A>T (p.Lys767Met) c.2171A>T (p.Lys724Met) | |
| 3 | g.38587536T>C | CA352143476 | SCN5A | c.2300A>G (p.Lys767Arg) c.2171A>G (p.Lys724Arg) | ClinVar gnomAD v4 |
| 3 | g.38587536T>G | CA352143477 | SCN5A | c.2300A>C (p.Lys767Thr) c.2171A>C (p.Lys724Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587536T= | CA1358578196 | SCN5A | c.2300A= (p.Lys767=) c.2171A= (p.Lys724=) | |
| 3 | g.38587537T>A | CA352143479 | SCN5A | c.2299A>T (p.Lys767Ter) c.2170A>T (p.Lys724Ter) | dbSNP |
| 3 | g.38587537T>C | CA352143480 | SCN5A | c.2299A>G (p.Lys767Glu) c.2170A>G (p.Lys724Glu) | |
| 3 | g.38587537T>G | CA352143478 | SCN5A | c.2299A>C (p.Lys767Gln) c.2170A>C (p.Lys724Gln) | |
| 3 | g.38587537T= | CA1358578197 | SCN5A | c.2299A= (p.Lys767=) c.2170A= (p.Lys724=) | |
| 3 | g.38587538G>A | CA433136385 | SCN5A | c.2298C>T (p.Phe766=) c.2169C>T (p.Phe723=) | |
| 3 | g.38587538G>C | CA352143481 | SCN5A | c.2298C>G (p.Phe766Leu) c.2169C>G (p.Phe723Leu) | |
| 3 | g.38587538G>T | CA352143482 | SCN5A | c.2298C>A (p.Phe766Leu) c.2169C>A (p.Phe723Leu) | |
| 3 | g.38587538dup | CA915942301 | SCN5A | c.2298dup (p.Lys767GlnfsTer26) c.2169dup (p.Lys724GlnfsTer26) | ClinVar dbSNP |
| 3 | g.38587539A= | CA1358578198 | SCN5A | c.2297T= (p.Phe766=) c.2168T= (p.Phe723=) | |
| 3 | g.38587539A>C | CA352143483 | SCN5A | c.2297T>G (p.Phe766Cys) c.2168T>G (p.Phe723Cys) | |
| 3 | g.38587539A>G | CA352143484 | SCN5A | c.2297T>C (p.Phe766Ser) c.2168T>C (p.Phe723Ser) | dbSNP |
| 3 | g.38587539A>T | CA352143485 | SCN5A | c.2297T>A (p.Phe766Tyr) c.2168T>A (p.Phe723Tyr) | |
| 3 | g.38587540A>C | CA352143488 | SCN5A | c.2296T>G (p.Phe766Val) c.2167T>G (p.Phe723Val) | |
| 3 | g.38587540A>G | CA352143486 | SCN5A | c.2296T>C (p.Phe766Leu) c.2167T>C (p.Phe723Leu) | |
| 3 | g.38587540A>T | CA352143487 | SCN5A | c.2296T>A (p.Phe766Ile) c.2167T>A (p.Phe723Ile) | |
| 3 | g.38587541G>A | CA433136389 | SCN5A | c.2295C>T (p.Thr765=) c.2166C>T (p.Thr722=) | COSMIC |
| 3 | g.38587541G>C | CA433136390 | SCN5A | c.2295C>G (p.Thr765=) c.2166C>G (p.Thr722=) | |
| 3 | g.38587541G>T | CA433136391 | SCN5A | c.2295C>A (p.Thr765=) c.2166C>A (p.Thr722=) | |
| 3 | g.38587542G>A | CA352143489 | SCN5A | c.2294C>T (p.Thr765Ile) c.2165C>T (p.Thr722Ile) | ClinVar dbSNP |
| 3 | g.38587542G>C | CA352143490 | SCN5A | c.2294C>G (p.Thr765Ser) c.2165C>G (p.Thr722Ser) | |
| 3 | g.38587542G= | CA1358578199 | SCN5A | c.2294C= (p.Thr765=) c.2165C= (p.Thr722=) | |
| 3 | g.38587542G>T | CA352143491 | SCN5A | c.2294C>A (p.Thr765Asn) c.2165C>A (p.Thr722Asn) | |
| 3 | g.38587543T>A | CA352143492 | SCN5A | c.2293A>T (p.Thr765Ser) c.2164A>T (p.Thr722Ser) | |
| 3 | g.38587543T>C | CA352143493 | SCN5A | c.2293A>G (p.Thr765Ala) c.2164A>G (p.Thr722Ala) | COSMIC COSMIC COSMIC |
| 3 | g.38587543T>G | CA352143494 | SCN5A | c.2293A>C (p.Thr765Pro) c.2164A>C (p.Thr722Pro) | |
| 3 | g.38587544C>A | CA352143496 | SCN5A | c.2292G>T (p.Met764Ile) c.2163G>T (p.Met721Ile) | gnomAD v4 |
| 3 | g.38587544C>G | CA352143497 | SCN5A | c.2292G>C (p.Met764Ile) c.2163G>C (p.Met721Ile) | |
| 3 | g.38587544C>T | CA352143495 | SCN5A | c.2292G>A (p.Met764Ile) c.2163G>A (p.Met721Ile) | gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587545A= | CA1358578200 | SCN5A | c.2291T= (p.Met764=) c.2162T= (p.Met721=) | |
| 3 | g.38587545A>C | CA016048 | SCN5A | c.2291T>G (p.Met764Arg) c.2162T>G (p.Met721Arg) | ClinVar dbSNP |
| 3 | g.38587545A>G | CA016037 | SCN5A | c.2291T>C (p.Met764Thr) c.2162T>C (p.Met721Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587545A>T | CA352143498 | SCN5A | c.2291T>A (p.Met764Lys) c.2162T>A (p.Met721Lys) | |
| 3 | g.38587546T>A | CA352143499 | SCN5A | c.2290A>T (p.Met764Leu) c.2161A>T (p.Met721Leu) | |
| 3 | g.38587546T>C | CA352143500 | SCN5A | c.2290A>G (p.Met764Val) c.2161A>G (p.Met721Val) | |
| 3 | g.38587546T>G | CA352143501 | SCN5A | c.2290A>C (p.Met764Leu) c.2161A>C (p.Met721Leu) | |
| 3 | g.38587547C>A | CA352143502 | SCN5A | c.2289G>T (p.Glu763Asp) c.2160G>T (p.Glu720Asp) | |
| 3 | g.38587547C= | CA1358578201 | SCN5A | c.2289G= (p.Glu763=) c.2160G= (p.Glu720=) | |
| 3 | g.38587547C>G | CA060194 | SCN5A | c.2289G>C (p.Glu763Asp) c.2160G>C (p.Glu720Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587547C>T | CA433136394 | SCN5A | c.2289G>A (p.Glu763=) c.2160G>A (p.Glu720=) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587548T>A | CA352143503 | SCN5A | c.2288A>T (p.Glu763Val) c.2159A>T (p.Glu720Val) | |
| 3 | g.38587548T>C | CA352143504 | SCN5A | c.2288A>G (p.Glu763Gly) c.2159A>G (p.Glu720Gly) | |
| 3 | g.38587548T>G | CA352143505 | SCN5A | c.2288A>C (p.Glu763Ala) c.2159A>C (p.Glu720Ala) | |
| 3 | g.38587549C>A | CA352143506 | SCN5A | c.2287G>T (p.Glu763Ter) c.2158G>T (p.Glu720Ter) | dbSNP |
| 3 | g.38587549C= | CA1358578202 | SCN5A | c.2287G= (p.Glu763=) c.2158G= (p.Glu720=) | |
| 3 | g.38587549C>G | CA352143507 | SCN5A | c.2287G>C (p.Glu763Gln) c.2158G>C (p.Glu720Gln) | |
| 3 | g.38587549C>T | CA060186 | SCN5A | c.2287G>A (p.Glu763Lys) c.2158G>A (p.Glu720Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38587550T>A | CA433136395 | SCN5A | c.2286A>T (p.Ala762=) c.2157A>T (p.Ala719=) | dbSNP |
| 3 | g.38587550T>C | CA433136396 | SCN5A | c.2286A>G (p.Ala762=) c.2157A>G (p.Ala719=) | |
| 3 | g.38587550T>G | CA433136397 | SCN5A | c.2286A>C (p.Ala762=) c.2157A>C (p.Ala719=) | |
| 3 | g.38587550T= | CA1358578203 | SCN5A | c.2286A= (p.Ala762=) c.2157A= (p.Ala719=) | |
| 3 | g.38587551G>A | CA352143510 | SCN5A | c.2285C>T (p.Ala762Val) c.2156C>T (p.Ala719Val) | |
| 3 | g.38587551G>C | CA352143509 | SCN5A | c.2285C>G (p.Ala762Gly) c.2156C>G (p.Ala719Gly) | |
| 3 | g.38587551G>T | CA352143508 | SCN5A | c.2285C>A (p.Ala762Glu) c.2156C>A (p.Ala719Glu) | |
| 3 | g.38587552C>A | CA352143511 | SCN5A | c.2284G>T (p.Ala762Ser) c.2155G>T (p.Ala719Ser) | |
| 3 | g.38587552C>G | CA352143512 | SCN5A | c.2284G>C (p.Ala762Pro) c.2155G>C (p.Ala719Pro) | |
| 3 | g.38587552C>T | CA352143513 | SCN5A | c.2284G>A (p.Ala762Thr) c.2155G>A (p.Ala719Thr) | |
| 3 | g.38587553T>A | CA433136399 | SCN5A | c.2283A>T (p.Thr761=) c.2154A>T (p.Thr718=) | |
| 3 | g.38587553T>C | CA433136400 | SCN5A | c.2283A>G (p.Thr761=) c.2154A>G (p.Thr718=) | |
| 3 | g.38587553T>G | CA433136401 | SCN5A | c.2283A>C (p.Thr761=) c.2154A>C (p.Thr718=) | |
| 3 | g.38587554G>A | CA352143514 | SCN5A | c.2282C>T (p.Thr761Ile) c.2153C>T (p.Thr718Ile) | |
| 3 | g.38587554G>C | CA352143515 | SCN5A | c.2282C>G (p.Thr761Arg) c.2153C>G (p.Thr718Arg) | |
| 3 | g.38587554G>T | CA352143516 | SCN5A | c.2282C>A (p.Thr761Lys) c.2153C>A (p.Thr718Lys) | |
| 3 | g.38587555T>A | CA352143517 | SCN5A | c.2281A>T (p.Thr761Ser) c.2152A>T (p.Thr718Ser) | |
| 3 | g.38587555T>C | CA352143518 | SCN5A | c.2281A>G (p.Thr761Ala) c.2152A>G (p.Thr718Ala) | |
| 3 | g.38587555T>G | CA352143519 | SCN5A | c.2281A>C (p.Thr761Pro) c.2152A>C (p.Thr718Pro) | |
| 3 | g.38587556G>A | CA2319559 | SCN5A | c.2280C>T (p.Phe760=) c.2151C>T (p.Phe717=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587556G>C | CA352143520 | SCN5A | c.2280C>G (p.Phe760Leu) c.2151C>G (p.Phe717Leu) | |
| 3 | g.38587556G= | CA1358578204 | SCN5A | c.2280C= (p.Phe760=) c.2151C= (p.Phe717=) | |
| 3 | g.38587556G>T | CA352143521 | SCN5A | c.2280C>A (p.Phe760Leu) c.2151C>A (p.Phe717Leu) | |
| 3 | g.38587556_38587557delinsGA | CA1358578205 | SCN5A | c.2279_2280delinsTC (p.Phe760=) c.2150_2151delinsTC (p.Phe717=) | |
| 3 | g.38587557A>C | CA352143523 | SCN5A | c.2279T>G (p.Phe760Cys) c.2150T>G (p.Phe717Cys) | |
| 3 | g.38587557A>G | CA352143524 | SCN5A | c.2279T>C (p.Phe760Ser) c.2150T>C (p.Phe717Ser) | |
| 3 | g.38587557A>T | CA352143522 | SCN5A | c.2279T>A (p.Phe760Tyr) c.2150T>A (p.Phe717Tyr) | |
| 3 | g.38587560del | CA2319560 | SCN5A | c.2279del (p.Phe760SerfsTer5) c.2150del (p.Phe717SerfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587558A>C | CA352143525 | SCN5A | c.2278T>G (p.Phe760Val) c.2149T>G (p.Phe717Val) | |
| 3 | g.38587558A>G | CA352143526 | SCN5A | c.2278T>C (p.Phe760Leu) c.2149T>C (p.Phe717Leu) | |
| 3 | g.38587558A>T | CA352143527 | SCN5A | c.2278T>A (p.Phe760Ile) c.2149T>A (p.Phe717Ile) | |
| 3 | g.38587559A>C | CA352143528 | SCN5A | c.2277T>G (p.Ile759Met) c.2148T>G (p.Ile716Met) | |
| 3 | g.38587559A>G | CA433136404 | SCN5A | c.2277T>C (p.Ile759=) c.2148T>C (p.Ile716=) | |
| 3 | g.38587559A>T | CA433136405 | SCN5A | c.2277T>A (p.Ile759=) c.2148T>A (p.Ile716=) | |
| 3 | g.38587560A>C | CA352143529 | SCN5A | c.2276T>G (p.Ile759Ser) c.2147T>G (p.Ile716Ser) | |
| 3 | g.38587560A>G | CA352143530 | SCN5A | c.2276T>C (p.Ile759Thr) c.2147T>C (p.Ile716Thr) | |
| 3 | g.38587560A>T | CA352143531 | SCN5A | c.2276T>A (p.Ile759Asn) c.2147T>A (p.Ile716Asn) | |
| 3 | g.38587561T>A | CA016025 | SCN5A | c.2275A>T (p.Ile759Phe) c.2146A>T (p.Ile716Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587561T>C | CA060157 | SCN5A | c.2275A>G (p.Ile759Val) c.2146A>G (p.Ile716Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587561T>G | CA352143532 | SCN5A | c.2275A>C (p.Ile759Leu) c.2146A>C (p.Ile716Leu) | |
| 3 | g.38587561T= | CA1358578206 | SCN5A | c.2275A= (p.Ile759=) c.2146A= (p.Ile716=) | |
| 3 | g.38587562C>A | CA433136407 | SCN5A | c.2274G>T (p.Gly758=) c.2145G>T (p.Gly715=) | |
| 3 | g.38587562C>G | CA433136408 | SCN5A | c.2274G>C (p.Gly758=) c.2145G>C (p.Gly715=) | |
| 3 | g.38587562C>T | CA433136409 | SCN5A | c.2274G>A (p.Gly758=) c.2145G>A (p.Gly715=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38587564del | CA2499216740 | SCN5A | c.2274del (p.Ile759PhefsTer6) c.2145del (p.Ile716PhefsTer6) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587563C>A | CA352143533 | SCN5A | c.2273G>T (p.Gly758Val) c.2144G>T (p.Gly715Val) | |
| 3 | g.38587563C= | CA1358578207 | SCN5A | c.2273G= (p.Gly758=) c.2144G= (p.Gly715=) | |
| 3 | g.38587563C>G | CA352143534 | SCN5A | c.2273G>C (p.Gly758Ala) c.2144G>C (p.Gly715Ala) | |
| 3 | g.38587563C>T | CA016012 | SCN5A | c.2273G>A (p.Gly758Glu) c.2144G>A (p.Gly715Glu) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38587564C>A | CA352143537 | SCN5A | c.2272G>T (p.Gly758Trp) c.2143G>T (p.Gly715Trp) | gnomAD v4 |
| 3 | g.38587564C>G | CA352143536 | SCN5A | c.2272G>C (p.Gly758Arg) c.2143G>C (p.Gly715Arg) | |
| 3 | g.38587564C>T | CA352143535 | SCN5A | c.2272G>A (p.Gly758Arg) c.2143G>A (p.Gly715Arg) | |
| 3 | g.38587565T>A | CA433136411 | SCN5A | c.2271A>T (p.Thr757=) c.2142A>T (p.Thr714=) | |
| 3 | g.38587565T>C | CA433136412 | SCN5A | c.2271A>G (p.Thr757=) c.2142A>G (p.Thr714=) | |
| 3 | g.38587565T>G | CA433136410 | SCN5A | c.2271A>C (p.Thr757=) c.2142A>C (p.Thr714=) | |
| 3 | g.38587565_38587568del | CA2586972033 | SCN5A | c.2268_2271del (p.Phe756LeufsTer8) c.2139_2142del (p.Phe713LeufsTer8) | |
| 3 | g.38587566G>A | CA352143538 | SCN5A | c.2270C>T (p.Thr757Ile) c.2141C>T (p.Thr714Ile) | |
| 3 | g.38587566G>C | CA352143539 | SCN5A | c.2270C>G (p.Thr757Arg) c.2141C>G (p.Thr714Arg) | |
| 3 | g.38587566G>T | CA352143540 | SCN5A | c.2270C>A (p.Thr757Lys) c.2141C>A (p.Thr714Lys) | |
| 3 | g.38587567T>A | CA352143541 | SCN5A | c.2269A>T (p.Thr757Ser) c.2140A>T (p.Thr714Ser) | |
| 3 | g.38587567T>C | CA352143542 | SCN5A | c.2269A>G (p.Thr757Ala) c.2140A>G (p.Thr714Ala) | |
| 3 | g.38587567T>G | CA352143543 | SCN5A | c.2269A>C (p.Thr757Pro) c.2140A>C (p.Thr714Pro) | |
| 3 | g.38587568G>A | CA060148 | SCN5A | c.2268C>T (p.Phe756=) c.2139C>T (p.Phe713=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587568G>C | CA352143544 | SCN5A | c.2268C>G (p.Phe756Leu) c.2139C>G (p.Phe713Leu) | |
| 3 | g.38587568G= | CA1358578208 | SCN5A | c.2268C= (p.Phe756=) c.2139C= (p.Phe713=) | |
| 3 | g.38587568G>T | CA352143545 | SCN5A | c.2268C>A (p.Phe756Leu) c.2139C>A (p.Phe713Leu) | |
| 3 | g.38587569A>C | CA352143546 | SCN5A | c.2267T>G (p.Phe756Cys) c.2138T>G (p.Phe713Cys) | |
| 3 | g.38587569A>G | CA352143547 | SCN5A | c.2267T>C (p.Phe756Ser) c.2138T>C (p.Phe713Ser) | |
| 3 | g.38587569A>T | CA352143548 | SCN5A | c.2267T>A (p.Phe756Tyr) c.2138T>A (p.Phe713Tyr) | |
| 3 | g.38587570A>C | CA352143551 | SCN5A | c.2266T>G (p.Phe756Val) c.2137T>G (p.Phe713Val) | |
| 3 | g.38587570A>G | CA352143550 | SCN5A | c.2266T>C (p.Phe756Leu) c.2137T>C (p.Phe713Leu) | |
| 3 | g.38587570A>T | CA352143549 | SCN5A | c.2266T>A (p.Phe756Ile) c.2137T>A (p.Phe713Ile) | |
| 3 | g.38587571G>A | CA433136416 | SCN5A | c.2265C>T (p.Val755=) c.2136C>T (p.Val712=) | |
| 3 | g.38587571G>C | CA060131 | SCN5A | c.2265C>G (p.Val755=) c.2136C>G (p.Val712=) | dbSNP ExAC |
| 3 | g.38587571G= | CA1358578209 | SCN5A | c.2265C= (p.Val755=) c.2136C= (p.Val712=) | |
| 3 | g.38587571G>T | CA060123 | SCN5A | c.2265C>A (p.Val755=) c.2136C>A (p.Val712=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587572A>C | CA352143552 | SCN5A | c.2264T>G (p.Val755Gly) c.2135T>G (p.Val712Gly) | |
| 3 | g.38587572A>G | CA352143553 | SCN5A | c.2264T>C (p.Val755Ala) c.2135T>C (p.Val712Ala) | |
| 3 | g.38587572A>T | CA352143554 | SCN5A | c.2264T>A (p.Val755Asp) c.2135T>A (p.Val712Asp) | |
| 3 | g.38587573C>A | CA352143555 | SCN5A | c.2263G>T (p.Val755Phe) c.2134G>T (p.Val712Phe) | |
| 3 | g.38587573C>G | CA352143556 | SCN5A | c.2263G>C (p.Val755Leu) c.2134G>C (p.Val712Leu) | |
| 3 | g.38587573C>T | CA352143557 | SCN5A | c.2263G>A (p.Val755Ile) c.2134G>A (p.Val712Ile) | |
| 3 | g.38587574C>A | CA352143558 | SCN5A | c.2263-1G>T (n.2263-1G>T) c.2134-1G>T (n.2134-1G>T) | |
| 3 | g.38587574C>G | CA352143559 | SCN5A | c.2263-1G>C (n.2263-1G>C) c.2134-1G>C (n.2134-1G>C) | |
| 3 | g.38587574C>T | CA352143560 | SCN5A | c.2263-1G>A (n.2263-1G>A) c.2134-1G>A (n.2134-1G>A) | |
| 3 | g.38587574_38587575insAGGTTTCCGACCTGCAGCATCTCCTCGAATTCACTTGTCATGTTGTAGTGCTCCAGCGCCATGAAGAGTGTGT | CA542615690 | SCN5A | c.2263-2_2263-1insACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCT (n.2263-2_2263-1insACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCT) c.2134-2_2134-1insACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCT (n.2134-2_2134-1insACACACTCTTCATGGCGCTGGAGCACTACAACATGACAAGTGAATTCGAGGAGATGCTGCAGGTCGGAAACCT) | gnomAD v2 |
| 3 | g.38587575T>A | CA352143561 | SCN5A | c.2263-2A>T (n.2263-2A>T) c.2134-2A>T (n.2134-2A>T) | dbSNP |
| 3 | g.38587575T>C | CA352143562 | SCN5A | c.2263-2A>G (n.2263-2A>G) c.2134-2A>G (n.2134-2A>G) | ClinVar dbSNP |
| 3 | g.38587575T>G | CA352143563 | SCN5A | c.2263-2A>C (n.2263-2A>C) c.2134-2A>C (n.2134-2A>C) | |
| 3 | g.38587575T= | CA1358578211 | SCN5A | c.2263-2A= (n.2263-2A=) c.2134-2A= (n.2134-2A=) | |
| 3 | g.38587575_38587578delinsTGAG | CA1358578210 | SCN5A | c.2263-5_2263-2delinsCTCA (n.2263-5_2263-2delinsCTCA) c.2134-5_2134-2delinsCTCA (n.2134-5_2134-2delinsCTCA) | |
| 3 | g.38587580_38587582del | CA1047007037 | SCN5A | c.2263-5_2263-3del (n.2263-5_2263-3del) c.2134-5_2134-3del (n.2134-5_2134-3del) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587579G>A | CA1358578213 | SCN5A | c.2263-6C>T (n.2263-6C>T) c.2134-6C>T (n.2134-6C>T) | ClinVar dbSNP |
| 3 | g.38587579G= | CA1358578212 | SCN5A | c.2263-6C= (n.2263-6C=) c.2134-6C= (n.2134-6C=) | |
| 3 | g.38587580A>G | CA2825001222 | SCN5A | c.2263-7T>C (n.2263-7T>C) c.2134-7T>C (n.2134-7T>C) | ClinVar |
| 3 | g.38587581G>A | CA2665114018 | SCN5A | c.2263-8C>T (n.2263-8C>T) c.2134-8C>T (n.2134-8C>T) | gnomAD v4 |
| 3 | g.38587583G>A | CA2499216741 | SCN5A | c.2263-10C>T (n.2263-10C>T) c.2134-10C>T (n.2134-10C>T) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38587583G>C | CA1358578215 | SCN5A | c.2263-10C>G (n.2263-10C>G) c.2134-10C>G (n.2134-10C>G) | dbSNP gnomAD v4 |
| 3 | g.38587583G= | CA1358578214 | SCN5A | c.2263-10C= (n.2263-10C=) c.2134-10C= (n.2134-10C=) | |
| 3 | g.38587584A= | CA1358578216 | SCN5A | c.2263-11T= (n.2263-11T=) c.2134-11T= (n.2134-11T=) | |
| 3 | g.38587584A>G | CA542615691 | SCN5A | c.2263-11T>C (n.2263-11T>C) c.2134-11T>C (n.2134-11T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587585G>A | CA060072 | SCN5A | c.2263-12C>T (n.2263-12C>T) c.2134-12C>T (n.2134-12C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587585G= | CA1358578217 | SCN5A | c.2263-12C= (n.2263-12C=) c.2134-12C= (n.2134-12C=) | |
| 3 | g.38587586C>A | CA542615692 | SCN5A | c.2263-13G>T (n.2263-13G>T) c.2134-13G>T (n.2134-13G>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587586C= | CA1358578218 | SCN5A | c.2263-13G= (n.2263-13G=) c.2134-13G= (n.2134-13G=) | |
| 3 | g.38587588G>A | CA906860328 | SCN5A | c.2263-15C>T (n.2263-15C>T) c.2134-15C>T (n.2134-15C>T) | dbSNP |
| 3 | g.38587588G= | CA1358578219 | SCN5A | c.2263-15C= (n.2263-15C=) c.2134-15C= (n.2134-15C=) | |
| 3 | g.38587589G>A | CA1358578221 | SCN5A | c.2263-16C>T (n.2263-16C>T) c.2134-16C>T (n.2134-16C>T) | dbSNP |
| 3 | g.38587589G= | CA1358578220 | SCN5A | c.2263-16C= (n.2263-16C=) c.2134-16C= (n.2134-16C=) | |
| 3 | g.38587591A= | CA1358578222 | SCN5A | c.2263-18T= (n.2263-18T=) c.2134-18T= (n.2134-18T=) | |
| 3 | g.38587591A>G | CA060078 | SCN5A | c.2263-18T>C (n.2263-18T>C) c.2134-18T>C (n.2134-18T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587594G>A | CA2665114019 | SCN5A | c.2263-21C>T (n.2263-21C>T) c.2134-21C>T (n.2134-21C>T) | gnomAD v4 |
| 3 | g.38587596T>C | CA060087 | SCN5A | c.2263-23A>G (n.2263-23A>G) c.2134-23A>G (n.2134-23A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587596T= | CA1358578223 | SCN5A | c.2263-23A= (n.2263-23A=) c.2134-23A= (n.2134-23A=) | |
| 3 | g.38587597T>C | CA2665114020 | SCN5A | c.2263-24A>G (n.2263-24A>G) c.2134-24A>G (n.2134-24A>G) | gnomAD v4 |
| 3 | g.38587599G>A | CA2740406597 | SCN5A | c.2263-26C>T (n.2263-26C>T) c.2134-26C>T (n.2134-26C>T) | |
| 3 | g.38587600G>A | CA2665114021 | SCN5A | c.2263-27C>T (n.2263-27C>T) c.2134-27C>T (n.2134-27C>T) | gnomAD v4 |
| 3 | g.38587600G>T | CA2665114022 | SCN5A | c.2263-27C>A (n.2263-27C>A) c.2134-27C>A (n.2134-27C>A) | gnomAD v4 |
| 3 | g.38587602T>A | CA2665114023 | SCN5A | c.2263-29A>T (n.2263-29A>T) c.2134-29A>T (n.2134-29A>T) | gnomAD v4 |
| 3 | g.38587602T>C | CA1047007046 | SCN5A | c.2263-29A>G (n.2263-29A>G) c.2134-29A>G (n.2134-29A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38587602T= | CA1358578224 | SCN5A | c.2263-29A= (n.2263-29A=) c.2134-29A= (n.2134-29A=) | |
| 3 | g.38587603G>A | CA2543703195 | SCN5A | c.2263-30C>T (n.2263-30C>T) c.2134-30C>T (n.2134-30C>T) | gnomAD v4 |
| 3 | g.38587604G>A | CA72929477 | SCN5A | c.2263-31C>T (n.2263-31C>T) c.2134-31C>T (n.2134-31C>T) | dbSNP |
| 3 | g.38587604G= | CA1358578225 | SCN5A | c.2263-31C= (n.2263-31C=) c.2134-31C= (n.2134-31C=) | |
| 3 | g.38587604_38587606delinsGAA | CA1358578226 | SCN5A | c.2263-33_2263-31delinsTTC (n.2263-33_2263-31delinsTTC) c.2134-33_2134-31delinsTTC (n.2134-33_2134-31delinsTTC) | |
| 3 | g.38587606_38587607del | CA542615693 | SCN5A | c.2263-33_2263-32del (n.2263-33_2263-32del) c.2134-33_2134-32del (n.2134-33_2134-32del) | dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38587607A>G | CA2577676501 | SCN5A | c.2263-34T>C (n.2263-34T>C) c.2134-34T>C (n.2134-34T>C) | gnomAD v4 |
| 3 | g.38587608G>A | CA2665114024 | SCN5A | c.2263-35C>T (n.2263-35C>T) c.2134-35C>T (n.2134-35C>T) | gnomAD v4 |
| 3 | g.38587610C>A | CA060091 | SCN5A | c.2263-37G>T (n.2263-37G>T) c.2134-37G>T (n.2134-37G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587610C= | CA1358578227 | SCN5A | c.2263-37G= (n.2263-37G=) c.2134-37G= (n.2134-37G=) | |
| 3 | g.38587610C>T | CA2665114025 | SCN5A | c.2263-37G>A (n.2263-37G>A) c.2134-37G>A (n.2134-37G>A) | gnomAD v4 |
| 3 | g.38587611T>C | CA2570414352 | SCN5A | c.2263-38A>G (n.2263-38A>G) c.2134-38A>G (n.2134-38A>G) | |
| 3 | g.38587612C>A | CA2665114026 | SCN5A | c.2263-39G>T (n.2263-39G>T) c.2134-39G>T (n.2134-39G>T) | gnomAD v4 |
| 3 | g.38587612C= | CA1358578228 | SCN5A | c.2263-39G= (n.2263-39G=) c.2134-39G= (n.2134-39G=) | |
| 3 | g.38587612C>T | CA060099 | SCN5A | c.2263-39G>A (n.2263-39G>A) c.2134-39G>A (n.2134-39G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38587613C= | CA1358578229 | SCN5A | c.2263-40G= (n.2263-40G=) c.2134-40G= (n.2134-40G=) | |
| 3 | g.38587613C>G | CA72929481 | SCN5A | c.2263-40G>C (n.2263-40G>C) c.2134-40G>C (n.2134-40G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38587613C>T | CA060104 | SCN5A | c.2263-40G>A (n.2263-40G>A) c.2134-40G>A (n.2134-40G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |