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.38597711G>C | CA72932479 | SCN5A | c.2262+18C>G (n.2262+18C>G) c.2133+18C>G (n.2133+18C>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597711G= | CA1358583778 | SCN5A | c.2262+18C= (n.2262+18C=) c.2133+18C= (n.2133+18C=) | |
| 3 | g.38597711G>T | CA2665114215 | SCN5A | c.2262+18C>A (n.2262+18C>A) c.2133+18C>A (n.2133+18C>A) | gnomAD v4 |
| 3 | g.38597712C>A | CA1358583783 | SCN5A | c.2262+17G>T (n.2262+17G>T) c.2133+17G>T (n.2133+17G>T) | dbSNP gnomAD v4 |
| 3 | g.38597712C= | CA1358583781 | SCN5A | c.2262+17G= (n.2262+17G=) c.2133+17G= (n.2133+17G=) | |
| 3 | g.38597712C>T | CA906864540 | SCN5A | c.2262+17G>A (n.2262+17G>A) c.2133+17G>A (n.2133+17G>A) | dbSNP gnomAD v4 |
| 3 | g.38597714G>A | CA542615612 | SCN5A | c.2262+15C>T (n.2262+15C>T) c.2133+15C>T (n.2133+15C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597714G= | CA1358583785 | SCN5A | c.2262+15C= (n.2262+15C=) c.2133+15C= (n.2133+15C=) | |
| 3 | g.38597715C>A | CA2665114216 | SCN5A | c.2262+14G>T (n.2262+14G>T) c.2133+14G>T (n.2133+14G>T) | gnomAD v4 |
| 3 | g.38597715C= | CA1358583789 | SCN5A | c.2262+14G= (n.2262+14G=) c.2133+14G= (n.2133+14G=) | |
| 3 | g.38597715C>T | CA72932482 | SCN5A | c.2262+14G>A (n.2262+14G>A) c.2133+14G>A (n.2133+14G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38597717G>A | CA542615613 | SCN5A | c.2262+12C>T (n.2262+12C>T) c.2133+12C>T (n.2133+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597717G= | CA1358583791 | SCN5A | c.2262+12C= (n.2262+12C=) c.2133+12C= (n.2133+12C=) | |
| 3 | g.38597718G>A | CA2577553390 | SCN5A | c.2262+11C>T (n.2262+11C>T) c.2133+11C>T (n.2133+11C>T) | |
| 3 | g.38597719del | CA2665114217 | SCN5A | c.2262+10del (n.2262+10del) c.2133+10del (n.2133+10del) | gnomAD v4 |
| 3 | g.38597719C>G | CA2755900218 | SCN5A | c.2262+10G>C (n.2262+10G>C) c.2133+10G>C (n.2133+10G>C) | |
| 3 | g.38597719C>T | CA2499216742 | SCN5A | c.2262+10G>A (n.2262+10G>A) c.2133+10G>A (n.2133+10G>A) | ClinVar dbSNP |
| 3 | g.38597721G>T | CA2665114218 | SCN5A | c.2262+8C>A (n.2262+8C>A) c.2133+8C>A (n.2133+8C>A) | gnomAD v4 |
| 3 | g.38597722C= | CA1358583793 | SCN5A | c.2262+7G= (n.2262+7G=) c.2133+7G= (n.2133+7G=) | |
| 3 | g.38597722C>T | CA1358583794 | SCN5A | c.2262+7G>A (n.2262+7G>A) c.2133+7G>A (n.2133+7G>A) | dbSNP |
| 3 | g.38597723C>A | CA2665114219 | SCN5A | c.2262+6G>T (n.2262+6G>T) c.2133+6G>T (n.2133+6G>T) | gnomAD v4 |
| 3 | g.38597723C= | CA1358583800 | SCN5A | c.2262+6G= (n.2262+6G=) c.2133+6G= (n.2133+6G=) | |
| 3 | g.38597723C>T | CA658796282 | SCN5A | c.2262+6G>A (n.2262+6G>A) c.2133+6G>A (n.2133+6G>A) | ClinVar dbSNP |
| 3 | g.38597725T>C | CA2665114220 | SCN5A | c.2262+4A>G (n.2262+4A>G) c.2133+4A>G (n.2133+4A>G) | gnomAD v4 |
| 3 | g.38597726T>A | CA2586971895 | SCN5A | c.2262+3A>T (n.2262+3A>T) c.2133+3A>T (n.2133+3A>T) | |
| 3 | g.38597727A>C | CA352144412 | SCN5A | c.2262+2T>G (n.2262+2T>G) c.2133+2T>G (n.2133+2T>G) | |
| 3 | g.38597727A>G | CA352144413 | SCN5A | c.2262+2T>C (n.2262+2T>C) c.2133+2T>C (n.2133+2T>C) | |
| 3 | g.38597727A>T | CA352144414 | SCN5A | c.2262+2T>A (n.2262+2T>A) c.2133+2T>A (n.2133+2T>A) | |
| 3 | g.38597728C>A | CA352144415 | SCN5A | c.2262+1G>T (n.2262+1G>T) c.2133+1G>T (n.2133+1G>T) | |
| 3 | g.38597728C= | CA1358583807 | SCN5A | c.2262+1G= (n.2262+1G=) c.2133+1G= (n.2133+1G=) | |
| 3 | g.38597728C>G | CA352144416 | SCN5A | c.2262+1G>C (n.2262+1G>C) c.2133+1G>C (n.2133+1G>C) | |
| 3 | g.38597728C>T | CA72932485 | SCN5A | c.2262+1G>A (n.2262+1G>A) c.2133+1G>A (n.2133+1G>A) | dbSNP |
| 3 | g.38597729C>A | CA433332601 | SCN5A | c.2262G>T (p.Leu754=) c.2133G>T (p.Leu711=) | |
| 3 | g.38597729C>G | CA433332602 | SCN5A | c.2262G>C (p.Leu754=) c.2133G>C (p.Leu711=) | |
| 3 | g.38597729C>T | CA433332603 | SCN5A | c.2262G>A (p.Leu754=) c.2133G>A (p.Leu711=) | |
| 3 | g.38597730A= | CA1358583814 | SCN5A | c.2261T= (p.Leu754=) c.2132T= (p.Leu711=) | |
| 3 | g.38597730A>C | CA72932488 | SCN5A | c.2261T>G (p.Leu754Arg) c.2132T>G (p.Leu711Arg) | dbSNP |
| 3 | g.38597730A>G | CA352144417 | SCN5A | c.2261T>C (p.Leu754Pro) c.2132T>C (p.Leu711Pro) | dbSNP |
| 3 | g.38597730A>T | CA16611472 | SCN5A | c.2261T>A (p.Leu754Gln) c.2132T>A (p.Leu711Gln) | ClinVar dbSNP |
| 3 | g.38597731G>A | CA72932491 | SCN5A | c.2260C>T (p.Leu754=) c.2131C>T (p.Leu711=) | dbSNP |
| 3 | g.38597731G>C | CA352144419 | SCN5A | c.2260C>G (p.Leu754Val) c.2131C>G (p.Leu711Val) | |
| 3 | g.38597731G= | CA1358583821 | SCN5A | c.2260C= (p.Leu754=) c.2131C= (p.Leu711=) | |
| 3 | g.38597731G>T | CA352144418 | SCN5A | c.2260C>A (p.Leu754Met) c.2131C>A (p.Leu711Met) | |
| 3 | g.38597732G>A | CA10616337 | SCN5A | c.2259C>T (p.Asn753=) c.2130C>T (p.Asn710=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597732G>C | CA352144421 | SCN5A | c.2259C>G (p.Asn753Lys) c.2130C>G (p.Asn710Lys) | |
| 3 | g.38597732G= | CA1358583827 | SCN5A | c.2259C= (p.Asn753=) c.2130C= (p.Asn710=) | |
| 3 | g.38597732G>T | CA352144420 | SCN5A | c.2259C>A (p.Asn753Lys) c.2130C>A (p.Asn710Lys) | ClinVar dbSNP |
| 3 | g.38597733T>A | CA352144422 | SCN5A | c.2258A>T (p.Asn753Ile) c.2129A>T (p.Asn710Ile) | |
| 3 | g.38597733T>C | CA352144423 | SCN5A | c.2258A>G (p.Asn753Ser) c.2129A>G (p.Asn710Ser) | gnomAD v4 |
| 3 | g.38597733T>G | CA352144424 | SCN5A | c.2258A>C (p.Asn753Thr) c.2129A>C (p.Asn710Thr) | |
| 3 | g.38597734T>A | CA352144425 | SCN5A | c.2257A>T (p.Asn753Tyr) c.2128A>T (p.Asn710Tyr) | |
| 3 | g.38597734T>C | CA352144426 | SCN5A | c.2257A>G (p.Asn753Asp) c.2128A>G (p.Asn710Asp) | |
| 3 | g.38597734T>G | CA352144427 | SCN5A | c.2257A>C (p.Asn753His) c.2128A>C (p.Asn710His) | ClinVar dbSNP |
| 3 | g.38597734T= | CA1358583834 | SCN5A | c.2257A= (p.Asn753=) c.2128A= (p.Asn710=) | |
| 3 | g.38597735T>A | CA433332609 | SCN5A | c.2256A>T (p.Gly752=) c.2127A>T (p.Gly709=) | |
| 3 | g.38597735T>C | CA433332611 | SCN5A | c.2256A>G (p.Gly752=) c.2127A>G (p.Gly709=) | |
| 3 | g.38597735T>G | CA433332613 | SCN5A | c.2256A>C (p.Gly752=) c.2127A>C (p.Gly709=) | |
| 3 | g.38597736C>A | CA352144428 | SCN5A | c.2255G>T (p.Gly752Val) c.2126G>T (p.Gly709Val) | |
| 3 | g.38597736C= | CA1358583841 | SCN5A | c.2255G= (p.Gly752=) c.2126G= (p.Gly709=) | |
| 3 | g.38597736C>G | CA352144429 | SCN5A | c.2255G>C (p.Gly752Ala) c.2126G>C (p.Gly709Ala) | |
| 3 | g.38597736C>T | CA72932497 | SCN5A | c.2255G>A (p.Gly752Glu) c.2126G>A (p.Gly709Glu) | dbSNP gnomAD v4 |
| 3 | g.38597737C>A | CA352144430 | SCN5A | c.2254G>T (p.Gly752Ter) c.2125G>T (p.Gly709Ter) | dbSNP |
| 3 | g.38597737C= | CA1358583846 | SCN5A | c.2254G= (p.Gly752=) c.2125G= (p.Gly709=) | |
| 3 | g.38597737C>G | CA352144431 | SCN5A | c.2254G>C (p.Gly752Arg) c.2125G>C (p.Gly709Arg) | ClinVar |
| 3 | g.38597737C>T | CA016002 | SCN5A | c.2254G>A (p.Gly752Arg) c.2125G>A (p.Gly709Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38597738G>A | CA015993 | SCN5A | c.2253C>T (p.Val751=) c.2124C>T (p.Val708=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38597738G>C | CA433332619 | SCN5A | c.2253C>G (p.Val751=) c.2124C>G (p.Val708=) | |
| 3 | g.38597738G= | CA1358583855 | SCN5A | c.2253C= (p.Val751=) c.2124C= (p.Val708=) | |
| 3 | g.38597738G>T | CA433332620 | SCN5A | c.2253C>A (p.Val751=) c.2124C>A (p.Val708=) | gnomAD v4 |
| 3 | g.38597739A>C | CA352144432 | SCN5A | c.2252T>G (p.Val751Gly) c.2123T>G (p.Val708Gly) | |
| 3 | g.38597739A>G | CA352144433 | SCN5A | c.2252T>C (p.Val751Ala) c.2123T>C (p.Val708Ala) | |
| 3 | g.38597739A>T | CA352144434 | SCN5A | c.2252T>A (p.Val751Asp) c.2123T>A (p.Val708Asp) | |
| 3 | g.38597740C>A | CA059979 | SCN5A | c.2251G>T (p.Val751Phe) c.2122G>T (p.Val708Phe) | dbSNP ExAC gnomAD v2 |
| 3 | g.38597740C= | CA1358583863 | SCN5A | c.2251G= (p.Val751=) c.2122G= (p.Val708=) | |
| 3 | g.38597740C>G | CA352144435 | SCN5A | c.2251G>C (p.Val751Leu) c.2122G>C (p.Val708Leu) | |
| 3 | g.38597740C>T | CA059970 | SCN5A | c.2251G>A (p.Val751Ile) c.2122G>A (p.Val708Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597741C>A | CA352144436 | SCN5A | c.2250G>T (p.Gln750His) c.2121G>T (p.Gln707His) | |
| 3 | g.38597741C>G | CA352144437 | SCN5A | c.2250G>C (p.Gln750His) c.2121G>C (p.Gln707His) | |
| 3 | g.38597741C>T | CA433332622 | SCN5A | c.2250G>A (p.Gln750=) c.2121G>A (p.Gln707=) | COSMIC COSMIC COSMIC |
| 3 | g.38597742T>A | CA352144438 | SCN5A | c.2249A>T (p.Gln750Leu) c.2120A>T (p.Gln707Leu) | |
| 3 | g.38597742T>C | CA015984 | SCN5A | c.2249A>G (p.Gln750Arg) c.2120A>G (p.Gln707Arg) | ClinVar dbSNP |
| 3 | g.38597742T>G | CA352144439 | SCN5A | c.2249A>C (p.Gln750Pro) c.2120A>C (p.Gln707Pro) | |
| 3 | g.38597742T= | CA1358583872 | SCN5A | c.2249A= (p.Gln750=) c.2120A= (p.Gln707=) | |
| 3 | g.38597743G>A | CA352144440 | SCN5A | c.2248C>T (p.Gln750Ter) c.2119C>T (p.Gln707Ter) | |
| 3 | g.38597743G>C | CA352144441 | SCN5A | c.2248C>G (p.Gln750Glu) c.2119C>G (p.Gln707Glu) | |
| 3 | g.38597743G>T | CA352144442 | SCN5A | c.2248C>A (p.Gln750Lys) c.2119C>A (p.Gln707Lys) | |
| 3 | g.38597744C>A | CA433332631 | SCN5A | c.2247G>T (p.Leu749=) c.2118G>T (p.Leu706=) | |
| 3 | g.38597744C= | CA1358583879 | SCN5A | c.2247G= (p.Leu749=) c.2118G= (p.Leu706=) | |
| 3 | g.38597744C>G | CA433332632 | SCN5A | c.2247G>C (p.Leu749=) c.2118G>C (p.Leu706=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597744C>T | CA433332633 | SCN5A | c.2247G>A (p.Leu749=) c.2118G>A (p.Leu706=) | |
| 3 | g.38597745A>C | CA352144443 | SCN5A | c.2246T>G (p.Leu749Arg) c.2117T>G (p.Leu706Arg) | |
| 3 | g.38597745A>G | CA352144445 | SCN5A | c.2246T>C (p.Leu749Pro) c.2117T>C (p.Leu706Pro) | |
| 3 | g.38597745A>T | CA352144444 | SCN5A | c.2246T>A (p.Leu749Gln) c.2117T>A (p.Leu706Gln) | |
| 3 | g.38597746G>A | CA433332639 | SCN5A | c.2245C>T (p.Leu749=) c.2116C>T (p.Leu706=) | gnomAD v4 |
| 3 | g.38597746G>C | CA352144446 | SCN5A | c.2245C>G (p.Leu749Val) c.2116C>G (p.Leu706Val) | |
| 3 | g.38597746G>T | CA352144447 | SCN5A | c.2245C>A (p.Leu749Met) c.2116C>A (p.Leu706Met) | |
| 3 | g.38597747C>A | CA352144448 | SCN5A | c.2244G>T (p.Met748Ile) c.2115G>T (p.Met705Ile) | |
| 3 | g.38597747C= | CA1358583885 | SCN5A | c.2244G= (p.Met748=) c.2115G= (p.Met705=) | |
| 3 | g.38597747C>G | CA352144449 | SCN5A | c.2244G>C (p.Met748Ile) c.2115G>C (p.Met705Ile) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597747C>T | CA352144450 | SCN5A | c.2244G>A (p.Met748Ile) c.2115G>A (p.Met705Ile) | |
| 3 | g.38597748A>C | CA352144451 | SCN5A | c.2243T>G (p.Met748Arg) c.2114T>G (p.Met705Arg) | |
| 3 | g.38597748A>G | CA352144452 | SCN5A | c.2243T>C (p.Met748Thr) c.2114T>C (p.Met705Thr) | gnomAD v4 |
| 3 | g.38597748A>T | CA352144453 | SCN5A | c.2243T>A (p.Met748Lys) c.2114T>A (p.Met705Lys) | |
| 3 | g.38597749T>A | CA352144454 | SCN5A | c.2242A>T (p.Met748Leu) c.2113A>T (p.Met705Leu) | |
| 3 | g.38597749T>C | CA352144455 | SCN5A | c.2242A>G (p.Met748Val) c.2113A>G (p.Met705Val) | |
| 3 | g.38597749T>G | CA352144456 | SCN5A | c.2242A>C (p.Met748Leu) c.2113A>C (p.Met705Leu) | |
| 3 | g.38597750C>A | CA352144457 | SCN5A | c.2241G>T (p.Glu747Asp) c.2112G>T (p.Glu704Asp) | |
| 3 | g.38597750C>G | CA352144458 | SCN5A | c.2241G>C (p.Glu747Asp) c.2112G>C (p.Glu704Asp) | |
| 3 | g.38597750C>T | CA433332644 | SCN5A | c.2241G>A (p.Glu747=) c.2112G>A (p.Glu704=) | |
| 3 | g.38597751T>A | CA352144460 | SCN5A | c.2240A>T (p.Glu747Val) c.2111A>T (p.Glu704Val) | |
| 3 | g.38597751T>C | CA352144459 | SCN5A | c.2240A>G (p.Glu747Gly) c.2111A>G (p.Glu704Gly) | |
| 3 | g.38597751T>G | CA059965 | SCN5A | c.2240A>C (p.Glu747Ala) c.2111A>C (p.Glu704Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597751T= | CA1358583890 | SCN5A | c.2240A= (p.Glu747=) c.2111A= (p.Glu704=) | |
| 3 | g.38597752C>A | CA352144461 | SCN5A | c.2239G>T (p.Glu747Ter) c.2110G>T (p.Glu704Ter) | dbSNP COSMIC |
| 3 | g.38597752C= | CA1358583895 | SCN5A | c.2239G= (p.Glu747=) c.2110G= (p.Glu704=) | |
| 3 | g.38597752C>G | CA352144462 | SCN5A | c.2239G>C (p.Glu747Gln) c.2110G>C (p.Glu704Gln) | |
| 3 | g.38597752C>T | CA352144463 | SCN5A | c.2239G>A (p.Glu747Lys) c.2110G>A (p.Glu704Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38597753C>A | CA352144464 | SCN5A | c.2238G>T (p.Glu746Asp) c.2109G>T (p.Glu703Asp) | |
| 3 | g.38597753C>G | CA352144465 | SCN5A | c.2238G>C (p.Glu746Asp) c.2109G>C (p.Glu703Asp) | |
| 3 | g.38597753C>T | CA433332650 | SCN5A | c.2238G>A (p.Glu746=) c.2109G>A (p.Glu703=) | |
| 3 | g.38597754T>A | CA352144466 | SCN5A | c.2237A>T (p.Glu746Val) c.2108A>T (p.Glu703Val) | |
| 3 | g.38597754T>C | CA352144467 | SCN5A | c.2237A>G (p.Glu746Gly) c.2108A>G (p.Glu703Gly) | |
| 3 | g.38597754T>G | CA352144468 | SCN5A | c.2237A>C (p.Glu746Ala) c.2108A>C (p.Glu703Ala) | |
| 3 | g.38597755C>A | CA352144469 | SCN5A | c.2236G>T (p.Glu746Ter) c.2107G>T (p.Glu703Ter) | dbSNP gnomAD v4 |
| 3 | g.38597755C= | CA1358583898 | SCN5A | c.2236G= (p.Glu746=) c.2107G= (p.Glu703=) | |
| 3 | g.38597755C>G | CA352144470 | SCN5A | c.2236G>C (p.Glu746Gln) c.2107G>C (p.Glu703Gln) | |
| 3 | g.38597755C>T | CA015974 | SCN5A | c.2236G>A (p.Glu746Lys) c.2107G>A (p.Glu703Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 3 | g.38597756G>A | CA059951 | SCN5A | c.2235C>T (p.Phe745=) c.2106C>T (p.Phe702=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
| 3 | g.38597756G>C | CA352144472 | SCN5A | c.2235C>G (p.Phe745Leu) c.2106C>G (p.Phe702Leu) | |
| 3 | g.38597756G= | CA1358583899 | SCN5A | c.2235C= (p.Phe745=) c.2106C= (p.Phe702=) | |
| 3 | g.38597756G>T | CA352144471 | SCN5A | c.2235C>A (p.Phe745Leu) c.2106C>A (p.Phe702Leu) | gnomAD v4 |
| 3 | g.38597757A>C | CA352144473 | SCN5A | c.2234T>G (p.Phe745Cys) c.2105T>G (p.Phe702Cys) | |
| 3 | g.38597757A>G | CA352144475 | SCN5A | c.2234T>C (p.Phe745Ser) c.2105T>C (p.Phe702Ser) | |
| 3 | g.38597757A>T | CA352144474 | SCN5A | c.2234T>A (p.Phe745Tyr) c.2105T>A (p.Phe702Tyr) | |
| 3 | g.38597758A>C | CA352144476 | SCN5A | c.2233T>G (p.Phe745Val) c.2104T>G (p.Phe702Val) | |
| 3 | g.38597758A>G | CA352144478 | SCN5A | c.2233T>C (p.Phe745Leu) c.2104T>C (p.Phe702Leu) | |
| 3 | g.38597758A>T | CA352144477 | SCN5A | c.2233T>A (p.Phe745Ile) c.2104T>A (p.Phe702Ile) | |
| 3 | g.38597759T>A | CA352144479 | SCN5A | c.2232A>T (p.Glu744Asp) c.2103A>T (p.Glu701Asp) | |
| 3 | g.38597759T>C | CA433332660 | SCN5A | c.2232A>G (p.Glu744=) c.2103A>G (p.Glu701=) | |
| 3 | g.38597759T>G | CA352144480 | SCN5A | c.2232A>C (p.Glu744Asp) c.2103A>C (p.Glu701Asp) | |
| 3 | g.38597760T>A | CA352144481 | SCN5A | c.2231A>T (p.Glu744Val) c.2102A>T (p.Glu701Val) | gnomAD v4 |
| 3 | g.38597760T>C | CA352144482 | SCN5A | c.2231A>G (p.Glu744Gly) c.2102A>G (p.Glu701Gly) | |
| 3 | g.38597760T>G | CA352144483 | SCN5A | c.2231A>C (p.Glu744Ala) c.2102A>C (p.Glu701Ala) | |
| 3 | g.38597761C>A | CA352144484 | SCN5A | c.2230G>T (p.Glu744Ter) c.2101G>T (p.Glu701Ter) | ClinVar dbSNP |
| 3 | g.38597761C= | CA1358583903 | SCN5A | c.2230G= (p.Glu744=) c.2101G= (p.Glu701=) | |
| 3 | g.38597761C>G | CA352144485 | SCN5A | c.2230G>C (p.Glu744Gln) c.2101G>C (p.Glu701Gln) | |
| 3 | g.38597761C>T | CA352144486 | SCN5A | c.2230G>A (p.Glu744Lys) c.2101G>A (p.Glu701Lys) | COSMIC COSMIC COSMIC |
| 3 | g.38597762A>C | CA352144487 | SCN5A | c.2229T>G (p.Ser743Arg) c.2100T>G (p.Ser700Arg) | |
| 3 | g.38597762A>G | CA433332668 | SCN5A | c.2229T>C (p.Ser743=) c.2100T>C (p.Ser700=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597762A>T | CA352144488 | SCN5A | c.2229T>A (p.Ser743Arg) c.2100T>A (p.Ser700Arg) | |
| 3 | g.38597763C>A | CA352144489 | SCN5A | c.2228G>T (p.Ser743Ile) c.2099G>T (p.Ser700Ile) | |
| 3 | g.38597763C>G | CA352144490 | SCN5A | c.2228G>C (p.Ser743Thr) c.2099G>C (p.Ser700Thr) | |
| 3 | g.38597763C>T | CA352144491 | SCN5A | c.2228G>A (p.Ser743Asn) c.2099G>A (p.Ser700Asn) | |
| 3 | g.38597764T>A | CA352144494 | SCN5A | c.2227A>T (p.Ser743Cys) c.2098A>T (p.Ser700Cys) | |
| 3 | g.38597764T>C | CA352144493 | SCN5A | c.2227A>G (p.Ser743Gly) c.2098A>G (p.Ser700Gly) | ClinVar |
| 3 | g.38597764T>G | CA352144492 | SCN5A | c.2227A>C (p.Ser743Arg) c.2098A>C (p.Ser700Arg) | |
| 3 | g.38597765T>A | CA433332834 | SCN5A | c.2226A>T (p.Thr742=) c.2097A>T (p.Thr699=) | |
| 3 | g.38597765T>C | CA433332836 | SCN5A | c.2226A>G (p.Thr742=) c.2097A>G (p.Thr699=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38597765T>G | CA433332838 | SCN5A | c.2226A>C (p.Thr742=) c.2097A>C (p.Thr699=) | |
| 3 | g.38597765T= | CA1358583906 | SCN5A | c.2226A= (p.Thr742=) c.2097A= (p.Thr699=) | |
| 3 | g.38597766G>A | CA352144495 | SCN5A | c.2225C>T (p.Thr742Ile) c.2096C>T (p.Thr699Ile) | |
| 3 | g.38597766G>C | CA352144496 | SCN5A | c.2225C>G (p.Thr742Arg) c.2096C>G (p.Thr699Arg) | |
| 3 | g.38597766G>T | CA352144497 | SCN5A | c.2225C>A (p.Thr742Lys) c.2096C>A (p.Thr699Lys) | |
| 3 | g.38597766_38597768del | CA2586971896 | SCN5A | c.2223_2225del (p.Met741_Thr742delinsIle) c.2094_2096del (p.Met698_Thr699delinsIle) | |
| 3 | g.38597767T>A | CA352144498 | SCN5A | c.2224A>T (p.Thr742Ser) c.2095A>T (p.Thr699Ser) | |
| 3 | g.38597767T>C | CA059935 | SCN5A | c.2224A>G (p.Thr742Ala) c.2095A>G (p.Thr699Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597767T>G | CA352144499 | SCN5A | c.2224A>C (p.Thr742Pro) c.2095A>C (p.Thr699Pro) | |
| 3 | g.38597767T= | CA1358583912 | SCN5A | c.2224A= (p.Thr742=) c.2095A= (p.Thr699=) | |
| 3 | g.38597768C>A | CA352144500 | SCN5A | c.2223G>T (p.Met741Ile) c.2094G>T (p.Met698Ile) | |
| 3 | g.38597768C>G | CA352144501 | SCN5A | c.2223G>C (p.Met741Ile) c.2094G>C (p.Met698Ile) | |
| 3 | g.38597768C>T | CA352144502 | SCN5A | c.2223G>A (p.Met741Ile) c.2094G>A (p.Met698Ile) | gnomAD v4 |
| 3 | g.38597769A>C | CA352144503 | SCN5A | c.2222T>G (p.Met741Arg) c.2093T>G (p.Met698Arg) | |
| 3 | g.38597769A>G | CA352144504 | SCN5A | c.2222T>C (p.Met741Thr) c.2093T>C (p.Met698Thr) | |
| 3 | g.38597769A>T | CA352144505 | SCN5A | c.2222T>A (p.Met741Lys) c.2093T>A (p.Met698Lys) | |
| 3 | g.38597770T>A | CA352144508 | SCN5A | c.2221A>T (p.Met741Leu) c.2092A>T (p.Met698Leu) | |
| 3 | g.38597770T>C | CA352144507 | SCN5A | c.2221A>G (p.Met741Val) c.2092A>G (p.Met698Val) | |
| 3 | g.38597770T>G | CA352144506 | SCN5A | c.2221A>C (p.Met741Leu) c.2092A>C (p.Met698Leu) | ClinVar |
| 3 | g.38597773_38597775del | CA2586971897 | SCN5A | c.2219_2221del (p.Asn740del) c.2090_2092del (p.Asn697del) | |
| 3 | g.38597771G>A | CA433332846 | SCN5A | c.2220C>T (p.Asn740=) c.2091C>T (p.Asn697=) | gnomAD v4 |
| 3 | g.38597771G>C | CA352144509 | SCN5A | c.2220C>G (p.Asn740Lys) c.2091C>G (p.Asn697Lys) | |
| 3 | g.38597771G>T | CA352144510 | SCN5A | c.2220C>A (p.Asn740Lys) c.2091C>A (p.Asn697Lys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597772T>A | CA352144511 | SCN5A | c.2219A>T (p.Asn740Ile) c.2090A>T (p.Asn697Ile) | |
| 3 | g.38597772T>C | CA352144512 | SCN5A | c.2219A>G (p.Asn740Ser) c.2090A>G (p.Asn697Ser) | |
| 3 | g.38597772T>G | CA352144513 | SCN5A | c.2219A>C (p.Asn740Thr) c.2090A>C (p.Asn697Thr) | |
| 3 | g.38597773T>A | CA352144514 | SCN5A | c.2218A>T (p.Asn740Tyr) c.2089A>T (p.Asn697Tyr) | |
| 3 | g.38597773T>C | CA352144515 | SCN5A | c.2218A>G (p.Asn740Asp) c.2089A>G (p.Asn697Asp) | |
| 3 | g.38597773T>G | CA352144516 | SCN5A | c.2218A>C (p.Asn740His) c.2089A>C (p.Asn697His) | gnomAD v4 |
| 3 | g.38597774G>A | CA433332851 | SCN5A | c.2217C>T (p.Tyr739=) c.2088C>T (p.Tyr696=) | gnomAD v4 |
| 3 | g.38597774G>C | CA352144517 | SCN5A | c.2217C>G (p.Tyr739Ter) c.2088C>G (p.Tyr696Ter) | |
| 3 | g.38597774G>T | CA352144518 | SCN5A | c.2217C>A (p.Tyr739Ter) c.2088C>A (p.Tyr696Ter) | |
| 3 | g.38597775T>A | CA352144519 | SCN5A | c.2216A>T (p.Tyr739Phe) c.2087A>T (p.Tyr696Phe) | |
| 3 | g.38597775T>C | CA352144520 | SCN5A | c.2216A>G (p.Tyr739Cys) c.2087A>G (p.Tyr696Cys) | gnomAD v4 |
| 3 | g.38597775T>G | CA352144521 | SCN5A | c.2216A>C (p.Tyr739Ser) c.2087A>C (p.Tyr696Ser) | |
| 3 | g.38597776A>C | CA352144522 | SCN5A | c.2215T>G (p.Tyr739Asp) c.2086T>G (p.Tyr696Asp) | |
| 3 | g.38597776A>G | CA352144524 | SCN5A | c.2215T>C (p.Tyr739His) c.2086T>C (p.Tyr696His) | |
| 3 | g.38597776A>T | CA352144523 | SCN5A | c.2215T>A (p.Tyr739Asn) c.2086T>A (p.Tyr696Asn) | |
| 3 | g.38597777G>A | CA433332861 | SCN5A | c.2214C>T (p.His738=) c.2085C>T (p.His695=) | ClinVar gnomAD v4 |
| 3 | g.38597777G>C | CA352144525 | SCN5A | c.2214C>G (p.His738Gln) c.2085C>G (p.His695Gln) | |
| 3 | g.38597777G>T | CA352144526 | SCN5A | c.2214C>A (p.His738Gln) c.2085C>A (p.His695Gln) | |
| 3 | g.38597778T>A | CA352144527 | SCN5A | c.2213A>T (p.His738Leu) c.2084A>T (p.His695Leu) | |
| 3 | g.38597778T>C | CA352144528 | SCN5A | c.2213A>G (p.His738Arg) c.2084A>G (p.His695Arg) | |
| 3 | g.38597778T>G | CA352144529 | SCN5A | c.2213A>C (p.His738Pro) c.2084A>C (p.His695Pro) | ClinVar dbSNP |
| 3 | g.38597778T= | CA1358583921 | SCN5A | c.2213A= (p.His738=) c.2084A= (p.His695=) | |
| 3 | g.38597779G>A | CA352144530 | SCN5A | c.2212C>T (p.His738Tyr) c.2083C>T (p.His695Tyr) | dbSNP |
| 3 | g.38597779G>C | CA352144531 | SCN5A | c.2212C>G (p.His738Asp) c.2083C>G (p.His695Asp) | |
| 3 | g.38597779G= | CA1358583930 | SCN5A | c.2212C= (p.His738=) c.2083C= (p.His695=) | |
| 3 | g.38597779G>T | CA352144532 | SCN5A | c.2212C>A (p.His738Asn) c.2083C>A (p.His695Asn) | |
| 3 | g.38597780C>A | CA352144533 | SCN5A | c.2211G>T (p.Glu737Asp) c.2082G>T (p.Glu694Asp) | |
| 3 | g.38597780C= | CA1358583934 | SCN5A | c.2211G= (p.Glu737=) c.2082G= (p.Glu694=) | |
| 3 | g.38597780C>G | CA352144534 | SCN5A | c.2211G>C (p.Glu737Asp) c.2082G>C (p.Glu694Asp) | |
| 3 | g.38597780C>T | CA72932519 | SCN5A | c.2211G>A (p.Glu737=) c.2082G>A (p.Glu694=) | ClinVar dbSNP |
| 3 | g.38597781T>A | CA352144537 | SCN5A | c.2210A>T (p.Glu737Val) c.2081A>T (p.Glu694Val) | |
| 3 | g.38597781T>C | CA352144536 | SCN5A | c.2210A>G (p.Glu737Gly) c.2081A>G (p.Glu694Gly) | ClinVar dbSNP |
| 3 | g.38597781T>G | CA352144535 | SCN5A | c.2210A>C (p.Glu737Ala) c.2081A>C (p.Glu694Ala) | |
| 3 | g.38597781T= | CA1358583939 | SCN5A | c.2210A= (p.Glu737=) c.2081A= (p.Glu694=) | |
| 3 | g.38597782C>A | CA352144538 | SCN5A | c.2209G>T (p.Glu737Ter) c.2080G>T (p.Glu694Ter) | dbSNP |
| 3 | g.38597782C= | CA1358583942 | SCN5A | c.2209G= (p.Glu737=) c.2080G= (p.Glu694=) | |
| 3 | g.38597782C>G | CA352144539 | SCN5A | c.2209G>C (p.Glu737Gln) c.2080G>C (p.Glu694Gln) | |
| 3 | g.38597782C>T | CA015965 | SCN5A | c.2209G>A (p.Glu737Lys) c.2080G>A (p.Glu694Lys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| 3 | g.38597783C>A | CA433332873 | SCN5A | c.2208G>T (p.Leu736=) c.2079G>T (p.Leu693=) | |
| 3 | g.38597783C>G | CA433332874 | SCN5A | c.2208G>C (p.Leu736=) c.2079G>C (p.Leu693=) | |
| 3 | g.38597783C>T | CA433332875 | SCN5A | c.2208G>A (p.Leu736=) c.2079G>A (p.Leu693=) | gnomAD v4 |
| 3 | g.38597784A= | CA1358583949 | SCN5A | c.2207T= (p.Leu736=) c.2078T= (p.Leu693=) | |
| 3 | g.38597784A>C | CA352144540 | SCN5A | c.2207T>G (p.Leu736Arg) c.2078T>G (p.Leu693Arg) | |
| 3 | g.38597784A>G | CA352144541 | SCN5A | c.2207T>C (p.Leu736Pro) c.2078T>C (p.Leu693Pro) | ClinVar dbSNP |
| 3 | g.38597784A>T | CA352144542 | SCN5A | c.2207T>A (p.Leu736Gln) c.2078T>A (p.Leu693Gln) | |
| 3 | g.38597785G>A | CA433332880 | SCN5A | c.2206C>T (p.Leu736=) c.2077C>T (p.Leu693=) | |
| 3 | g.38597785G>C | CA352144543 | SCN5A | c.2206C>G (p.Leu736Val) c.2077C>G (p.Leu693Val) | |
| 3 | g.38597785G>T | CA352144544 | SCN5A | c.2206C>A (p.Leu736Met) c.2077C>A (p.Leu693Met) | COSMIC COSMIC COSMIC |
| 3 | g.38597786C>A | CA433332881 | SCN5A | c.2205G>T (p.Ala735=) c.2076G>T (p.Ala692=) | |
| 3 | g.38597786C= | CA1358583953 | SCN5A | c.2205G= (p.Ala735=) c.2076G= (p.Ala692=) | |
| 3 | g.38597786C>G | CA433332882 | SCN5A | c.2205G>C (p.Ala735=) c.2076G>C (p.Ala692=) | |
| 3 | g.38597786C>T | CA059928 | SCN5A | c.2205G>A (p.Ala735=) c.2076G>A (p.Ala692=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597787G>A | CA015951 | SCN5A | c.2204C>T (p.Ala735Val) c.2075C>T (p.Ala692Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.38597787G>C | CA352144545 | SCN5A | c.2204C>G (p.Ala735Gly) c.2075C>G (p.Ala692Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.38597787G= | CA1358583959 | SCN5A | c.2204C= (p.Ala735=) c.2075C= (p.Ala692=) | |
| 3 | g.38597787G>T | CA015938 | SCN5A | c.2204C>A (p.Ala735Glu) c.2075C>A (p.Ala692Glu) | ClinVar dbSNP |
| 3 | g.38597788C>A | CA352144546 | SCN5A | c.2203G>T (p.Ala735Ser) c.2074G>T (p.Ala692Ser) | |
| 3 | g.38597788C= | CA1358583968 | SCN5A | c.2203G= (p.Ala735=) c.2074G= (p.Ala692=) | |
| 3 | g.38597788C>G | CA352144547 | SCN5A | c.2203G>C (p.Ala735Pro) c.2074G>C (p.Ala692Pro) | |
| 3 | g.38597788C>T | CA015925 | SCN5A | c.2203G>A (p.Ala735Thr) c.2074G>A (p.Ala692Thr) | ClinVar dbSNP |
| 3 | g.38597789del | CA2665114221 | SCN5A | c.2203del (p.Ala735ArgfsTer7) c.2074del (p.Ala692ArgfsTer7) | gnomAD v4 |
| 3 | g.38597789C>A | CA352144548 | SCN5A | c.2202G>T (p.Met734Ile) c.2073G>T (p.Met691Ile) | |
| 3 | g.38597789C>G | CA352144550 | SCN5A | c.2202G>C (p.Met734Ile) c.2073G>C (p.Met691Ile) | |
| 3 | g.38597789C>T | CA352144549 | SCN5A | c.2202G>A (p.Met734Ile) c.2073G>A (p.Met691Ile) | |
| 3 | g.38597790A>C | CA352144551 | SCN5A | c.2201T>G (p.Met734Arg) c.2072T>G (p.Met691Arg) | |
| 3 | g.38597790A>G | CA352144552 | SCN5A | c.2201T>C (p.Met734Thr) c.2072T>C (p.Met691Thr) | |
| 3 | g.38597790A>T | CA352144553 | SCN5A | c.2201T>A (p.Met734Lys) c.2072T>A (p.Met691Lys) | |
| 3 | g.38597790dup | CA2586971898 | SCN5A | c.2201dup (p.Met734IlefsTer11) c.2072dup (p.Met691IlefsTer11) | |
| 3 | g.38597791_38597808del | CA2665114222 | SCN5A | c.2184_2201del (p.Leu729_Met734del) c.2055_2072del (p.Leu686_Met691del) | gnomAD v4 |
| 3 | g.38597791T>A | CA352144554 | SCN5A | c.2200A>T (p.Met734Leu) c.2071A>T (p.Met691Leu) | ClinVar |
| 3 | g.38597791T>C | CA352144555 | SCN5A | c.2200A>G (p.Met734Val) c.2071A>G (p.Met691Val) | gnomAD v4 |
| 3 | g.38597791T>G | CA352144556 | SCN5A | c.2200A>C (p.Met734Leu) c.2071A>C (p.Met691Leu) | |
| 3 | g.38597792G>A | CA059906 | SCN5A | c.2199C>T (p.Phe733=) c.2070C>T (p.Phe690=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597792G>C | CA059897 | SCN5A | c.2199C>G (p.Phe733Leu) c.2070C>G (p.Phe690Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597792G= | CA1358583975 | SCN5A | c.2199C= (p.Phe733=) c.2070C= (p.Phe690=) | |
| 3 | g.38597792G>T | CA72932536 | SCN5A | c.2199C>A (p.Phe733Leu) c.2070C>A (p.Phe690Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597793A>C | CA352144558 | SCN5A | c.2198T>G (p.Phe733Cys) c.2069T>G (p.Phe690Cys) | |
| 3 | g.38597793A>G | CA352144559 | SCN5A | c.2198T>C (p.Phe733Ser) c.2069T>C (p.Phe690Ser) | |
| 3 | g.38597793A>T | CA352144557 | SCN5A | c.2198T>A (p.Phe733Tyr) c.2069T>A (p.Phe690Tyr) | |
| 3 | g.38597793_38597795delinsAAG | CA1358583982 | SCN5A | c.2196_2198delinsCTT (p.Leu732=) c.2067_2069delinsCTT (p.Leu689=) | |
| 3 | g.38597794A>C | CA352144560 | SCN5A | c.2197T>G (p.Phe733Val) c.2068T>G (p.Phe690Val) | |
| 3 | g.38597794A>G | CA352144561 | SCN5A | c.2197T>C (p.Phe733Leu) c.2068T>C (p.Phe690Leu) | |
| 3 | g.38597794A>T | CA352144562 | SCN5A | c.2197T>A (p.Phe733Ile) c.2068T>A (p.Phe690Ile) | |
| 3 | g.38597796_38597797del | CA906864700 | SCN5A | c.2196_2197del (p.Phe733HisfsTer11) c.2067_2068del (p.Phe690HisfsTer11) | dbSNP |
| 3 | g.38597795G>A | CA433332898 | SCN5A | c.2196C>T (p.Leu732=) c.2067C>T (p.Leu689=) | COSMIC COSMIC COSMIC |
| 3 | g.38597795G>C | CA433332899 | SCN5A | c.2196C>G (p.Leu732=) c.2067C>G (p.Leu689=) | |
| 3 | g.38597795G>T | CA433332901 | SCN5A | c.2196C>A (p.Leu732=) c.2067C>A (p.Leu689=) | |
| 3 | g.38597796A= | CA1358583990 | SCN5A | c.2195T= (p.Leu732=) c.2066T= (p.Leu689=) | |
| 3 | g.38597796A>C | CA352144563 | SCN5A | c.2195T>G (p.Leu732Arg) c.2066T>G (p.Leu689Arg) | |
| 3 | g.38597796A>G | CA352144564 | SCN5A | c.2195T>C (p.Leu732Pro) c.2066T>C (p.Leu689Pro) | ClinVar dbSNP |
| 3 | g.38597796A>T | CA352144565 | SCN5A | c.2195T>A (p.Leu732His) c.2066T>A (p.Leu689His) | |
| 3 | g.38597797G>A | CA352144566 | SCN5A | c.2194C>T (p.Leu732Phe) c.2065C>T (p.Leu689Phe) | |
| 3 | g.38597797G>C | CA352144567 | SCN5A | c.2194C>G (p.Leu732Val) c.2065C>G (p.Leu689Val) | |
| 3 | g.38597797G>T | CA352144568 | SCN5A | c.2194C>A (p.Leu732Ile) c.2065C>A (p.Leu689Ile) | |
| 3 | g.38597798T>A | CA433332904 | SCN5A | c.2193A>T (p.Thr731=) c.2064A>T (p.Thr688=) | gnomAD v4 |
| 3 | g.38597798T>C | CA433332905 | SCN5A | c.2193A>G (p.Thr731=) c.2064A>G (p.Thr688=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597798T>G | CA433332906 | SCN5A | c.2193A>C (p.Thr731=) c.2064A>C (p.Thr688=) | |
| 3 | g.38597798T= | CA1358583993 | SCN5A | c.2193A= (p.Thr731=) c.2064A= (p.Thr688=) | |
| 3 | g.38597799G>A | CA015899 | SCN5A | c.2192C>T (p.Thr731Ile) c.2063C>T (p.Thr688Ile) | ClinVar dbSNP |
| 3 | g.38597799G>C | CA352144569 | SCN5A | c.2192C>G (p.Thr731Arg) c.2063C>G (p.Thr688Arg) | |
| 3 | g.38597799G= | CA1358583998 | SCN5A | c.2192C= (p.Thr731=) c.2063C= (p.Thr688=) | |
| 3 | g.38597799G>T | CA352144570 | SCN5A | c.2192C>A (p.Thr731Lys) c.2063C>A (p.Thr688Lys) | |
| 3 | g.38597800T>A | CA352144572 | SCN5A | c.2191A>T (p.Thr731Ser) c.2062A>T (p.Thr688Ser) | |
| 3 | g.38597800T>C | CA352144573 | SCN5A | c.2191A>G (p.Thr731Ala) c.2062A>G (p.Thr688Ala) | |
| 3 | g.38597800T>G | CA352144571 | SCN5A | c.2191A>C (p.Thr731Pro) c.2062A>C (p.Thr688Pro) | |
| 3 | g.38597801G>A | CA433332907 | SCN5A | c.2190C>T (p.Asn730=) c.2061C>T (p.Asn687=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.38597801G>C | CA352144574 | SCN5A | c.2190C>G (p.Asn730Lys) c.2061C>G (p.Asn687Lys) | |
| 3 | g.38597801G= | CA1358584006 | SCN5A | c.2190C= (p.Asn730=) c.2061C= (p.Asn687=) | |
| 3 | g.38597801G>T | CA059886 | SCN5A | c.2190C>A (p.Asn730Lys) c.2061C>A (p.Asn687Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.38597802T>A | CA352144575 | SCN5A | c.2189A>T (p.Asn730Ile) c.2060A>T (p.Asn687Ile) | |
| 3 | g.38597802T>C | CA352144576 | SCN5A | c.2189A>G (p.Asn730Ser) c.2060A>G (p.Asn687Ser) | gnomAD v4 |
| 3 | g.38597802T>G | CA352144577 | SCN5A | c.2189A>C (p.Asn730Thr) c.2060A>C (p.Asn687Thr) | |
| 3 | g.38597803T>A | CA352144580 | SCN5A | c.2188A>T (p.Asn730Tyr) c.2059A>T (p.Asn687Tyr) | |
| 3 | g.38597803T>C | CA352144578 | SCN5A | c.2188A>G (p.Asn730Asp) c.2059A>G (p.Asn687Asp) | |
| 3 | g.38597803T>G | CA352144579 | SCN5A | c.2188A>C (p.Asn730His) c.2059A>C (p.Asn687His) | |
| 3 | g.38597804G>A | CA433332921 | SCN5A | c.2187C>T (p.Leu729=) c.2058C>T (p.Leu686=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597804G>C | CA433332922 | SCN5A | c.2187C>G (p.Leu729=) c.2058C>G (p.Leu686=) | |
| 3 | g.38597804G= | CA1358584009 | SCN5A | c.2187C= (p.Leu729=) c.2058C= (p.Leu686=) | |
| 3 | g.38597804G>T | CA433332923 | SCN5A | c.2187C>A (p.Leu729=) c.2058C>A (p.Leu686=) | |
| 3 | g.38597804_38597807delinsGAGT | CA1358584008 | SCN5A | c.2184_2187delinsACTC (p.Val728=) c.2055_2058delinsACTC (p.Val685=) | |
| 3 | g.38597805A>C | CA352144581 | SCN5A | c.2186T>G (p.Leu729Arg) c.2057T>G (p.Leu686Arg) | gnomAD v4 |
| 3 | g.38597805A>G | CA352144582 | SCN5A | c.2186T>C (p.Leu729Pro) c.2057T>C (p.Leu686Pro) | |
| 3 | g.38597805A>T | CA352144583 | SCN5A | c.2186T>A (p.Leu729His) c.2057T>A (p.Leu686His) | |
| 3 | g.38597806_38597808del | CA16609849 | SCN5A | c.2184_2186del (p.Leu729del) c.2055_2057del (p.Leu686del) | ClinVar dbSNP |
| 3 | g.38597806G>A | CA352144584 | SCN5A | c.2185C>T (p.Leu729Phe) c.2056C>T (p.Leu686Phe) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597806G>C | CA352144585 | SCN5A | c.2185C>G (p.Leu729Val) c.2056C>G (p.Leu686Val) | |
| 3 | g.38597806G= | CA1358584018 | SCN5A | c.2185C= (p.Leu729=) c.2056C= (p.Leu686=) | |
| 3 | g.38597806G>T | CA352144586 | SCN5A | c.2185C>A (p.Leu729Ile) c.2056C>A (p.Leu686Ile) | |
| 3 | g.38597807T>A | CA10587579 | SCN5A | c.2184A>T (p.Val728=) c.2055A>T (p.Val685=) | ClinVar dbSNP gnomAD v4 |
| 3 | g.38597807T>C | CA433332933 | SCN5A | c.2184A>G (p.Val728=) c.2055A>G (p.Val685=) | ClinVar COSMIC COSMIC COSMIC |
| 3 | g.38597807T>G | CA433332931 | SCN5A | c.2184A>C (p.Val728=) c.2055A>C (p.Val685=) | |
| 3 | g.38597807T= | CA1358584027 | SCN5A | c.2184A= (p.Val728=) c.2055A= (p.Val685=) | |
| 3 | g.38597808A= | CA1358584032 | SCN5A | c.2183T= (p.Val728=) c.2054T= (p.Val685=) | |
| 3 | g.38597808A>C | CA352144588 | SCN5A | c.2183T>G (p.Val728Gly) c.2054T>G (p.Val685Gly) | |
| 3 | g.38597808A>G | CA352144587 | SCN5A | c.2183T>C (p.Val728Ala) c.2054T>C (p.Val685Ala) | |
| 3 | g.38597808A>T | CA72932543 | SCN5A | c.2183T>A (p.Val728Glu) c.2054T>A (p.Val685Glu) | dbSNP |
| 3 | g.38597809C>A | CA352144589 | SCN5A | c.2182G>T (p.Val728Leu) c.2053G>T (p.Val685Leu) | |
| 3 | g.38597809C= | CA1358584036 | SCN5A | c.2182G= (p.Val728=) c.2053G= (p.Val685=) | |
| 3 | g.38597809C>G | CA352144590 | SCN5A | c.2182G>C (p.Val728Leu) c.2053G>C (p.Val685Leu) | |
| 3 | g.38597809C>T | CA72932545 | SCN5A | c.2182G>A (p.Val728Ile) c.2053G>A (p.Val685Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597810G>A | CA059878 | SCN5A | c.2181C>T (p.Ile727=) c.2052C>T (p.Ile684=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.38597810G>C | CA352144591 | SCN5A | c.2181C>G (p.Ile727Met) c.2052C>G (p.Ile684Met) | |
| 3 | g.38597810G= | CA1358584040 | SCN5A | c.2181C= (p.Ile727=) c.2052C= (p.Ile684=) | |
| 3 | g.38597810G>T | CA433332937 | SCN5A | c.2181C>A (p.Ile727=) c.2052C>A (p.Ile684=) | |
| 3 | g.38597811A>C | CA352144592 | SCN5A | c.2180T>G (p.Ile727Ser) c.2051T>G (p.Ile684Ser) | |
| 3 | g.38597811A>G | CA352144593 | SCN5A | c.2180T>C (p.Ile727Thr) c.2051T>C (p.Ile684Thr) | |
| 3 | g.38597811A>T | CA352144594 | SCN5A | c.2180T>A (p.Ile727Asn) c.2051T>A (p.Ile684Asn) |