Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) |