Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603829C>A | CA352146229 | SCN5A | c.1773G>T (p.Lys591Asn) c.1644G>T (p.Lys548Asn) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603829C= | CA1358584911 | SCN5A | c.1773G= (p.Lys591=) c.1644G= (p.Lys548=) | |
3 | g.38603829C>G | CA352146227 | SCN5A | c.1773G>C (p.Lys591Asn) c.1644G>C (p.Lys548Asn) | |
3 | g.38603829C>T | CA72939119 | SCN5A | c.1773G>A (p.Lys591=) c.1644G>A (p.Lys548=) | dbSNP gnomAD v4 |
3 | g.38603830T>A | CA352146230 | SCN5A | c.1772A>T (p.Lys591Met) c.1643A>T (p.Lys548Met) | |
3 | g.38603830T>C | CA352146231 | SCN5A | c.1772A>G (p.Lys591Arg) c.1643A>G (p.Lys548Arg) | |
3 | g.38603830T>G | CA352146232 | SCN5A | c.1772A>C (p.Lys591Thr) c.1643A>C (p.Lys548Thr) | |
3 | g.38603834dup | CA645519431 | SCN5A | c.1772dup (p.Asn592GlufsTer?) c.1643dup (p.Asn549GlufsTer?) | COSMIC COSMIC COSMIC |
3 | g.38603831T>A | CA352146234 | SCN5A | c.1771A>T (p.Lys591Ter) c.1642A>T (p.Lys548Ter) | dbSNP |
3 | g.38603831T>C | CA352146235 | SCN5A | c.1771A>G (p.Lys591Glu) c.1642A>G (p.Lys548Glu) | |
3 | g.38603831T>G | CA352146238 | SCN5A | c.1771A>C (p.Lys591Gln) c.1642A>C (p.Lys548Gln) | |
3 | g.38603831T= | CA1358584912 | SCN5A | c.1771A= (p.Lys591=) c.1642A= (p.Lys548=) | |
3 | g.38603832T>A | CA352146240 | SCN5A | c.1770A>T (p.Lys590Asn) c.1641A>T (p.Lys547Asn) | |
3 | g.38603832T>C | CA433332941 | SCN5A | c.1770A>G (p.Lys590=) c.1641A>G (p.Lys547=) | |
3 | g.38603832T>G | CA352146243 | SCN5A | c.1770A>C (p.Lys590Asn) c.1641A>C (p.Lys547Asn) | |
3 | g.38603833T>A | CA352146245 | SCN5A | c.1769A>T (p.Lys590Ile) c.1640A>T (p.Lys547Ile) | |
3 | g.38603833T>C | CA352146246 | SCN5A | c.1769A>G (p.Lys590Arg) c.1640A>G (p.Lys547Arg) | |
3 | g.38603833T>G | CA352146247 | SCN5A | c.1769A>C (p.Lys590Thr) c.1640A>C (p.Lys547Thr) | |
3 | g.38603834T>A | CA352146251 | SCN5A | c.1768A>T (p.Lys590Ter) c.1639A>T (p.Lys547Ter) | dbSNP |
3 | g.38603834T>C | CA352146250 | SCN5A | c.1768A>G (p.Lys590Glu) c.1639A>G (p.Lys547Glu) | gnomAD v4 |
3 | g.38603834T>G | CA16611286 | SCN5A | c.1768A>C (p.Lys590Gln) c.1639A>C (p.Lys547Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603834T= | CA1358584913 | SCN5A | c.1768A= (p.Lys590=) c.1639A= (p.Lys547=) | |
3 | g.38603835G>A | CA433332946 | SCN5A | c.1767C>T (p.Gly589=) c.1638C>T (p.Gly546=) | |
3 | g.38603835G>C | CA433332945 | SCN5A | c.1767C>G (p.Gly589=) c.1638C>G (p.Gly546=) | |
3 | g.38603835G>T | CA433332943 | SCN5A | c.1767C>A (p.Gly589=) c.1638C>A (p.Gly546=) | |
3 | g.38603836C>A | CA352146253 | SCN5A | c.1766G>T (p.Gly589Val) c.1637G>T (p.Gly546Val) | |
3 | g.38603836C>G | CA352146256 | SCN5A | c.1766G>C (p.Gly589Ala) c.1637G>C (p.Gly546Ala) | |
3 | g.38603836C>T | CA352146258 | SCN5A | c.1766G>A (p.Gly589Asp) c.1637G>A (p.Gly546Asp) | |
3 | g.38603837C>A | CA352146261 | SCN5A | c.1765G>T (p.Gly589Cys) c.1636G>T (p.Gly546Cys) | |
3 | g.38603837C>G | CA352146263 | SCN5A | c.1765G>C (p.Gly589Arg) c.1636G>C (p.Gly546Arg) | |
3 | g.38603837C>T | CA352146266 | SCN5A | c.1765G>A (p.Gly589Ser) c.1636G>A (p.Gly546Ser) | |
3 | g.38603838A= | CA1358584914 | SCN5A | c.1764T= (p.His588=) c.1635T= (p.His545=) | |
3 | g.38603838A>C | CA352146268 | SCN5A | c.1764T>G (p.His588Gln) c.1635T>G (p.His545Gln) | |
3 | g.38603838A>G | CA058780 | SCN5A | c.1764T>C (p.His588=) c.1635T>C (p.His545=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603838A>T | CA352146271 | SCN5A | c.1764T>A (p.His588Gln) c.1635T>A (p.His545Gln) | |
3 | g.38603839T>A | CA352146279 | SCN5A | c.1763A>T (p.His588Leu) c.1634A>T (p.His545Leu) | |
3 | g.38603839T>C | CA352146281 | SCN5A | c.1763A>G (p.His588Arg) c.1634A>G (p.His545Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603839T>G | CA352146284 | SCN5A | c.1763A>C (p.His588Pro) c.1634A>C (p.His545Pro) | |
3 | g.38603839T= | CA1358584915 | SCN5A | c.1763A= (p.His588=) c.1634A= (p.His545=) | |
3 | g.38603840G>A | CA352146291 | SCN5A | c.1762C>T (p.His588Tyr) c.1633C>T (p.His545Tyr) | ClinVar |
3 | g.38603840G>C | CA352146293 | SCN5A | c.1762C>G (p.His588Asp) c.1633C>G (p.His545Asp) | |
3 | g.38603840G= | CA1358584916 | SCN5A | c.1762C= (p.His588=) c.1633C= (p.His545=) | |
3 | g.38603840G>T | CA2319561 | SCN5A | c.1762C>A (p.His588Asn) c.1633C>A (p.His545Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603840_38603846delinsGGAGGGC | CA1358584917 | SCN5A | c.1756_1762delinsGCCCTCC (p.Ala586=) c.1627_1633delinsGCCCTCC (p.Ala543=) | |
3 | g.38603841G>A | CA433332953 | SCN5A | c.1761C>T (p.Leu587=) c.1632C>T (p.Leu544=) | |
3 | g.38603841G>C | CA433332959 | SCN5A | c.1761C>G (p.Leu587=) c.1632C>G (p.Leu544=) | |
3 | g.38603841G>T | CA433332956 | SCN5A | c.1761C>A (p.Leu587=) c.1632C>A (p.Leu544=) | |
3 | g.38603842_38603847del | CA354278 | SCN5A | c.1756_1761del (p.Ala586_Leu587del) c.1627_1632del (p.Ala543_Leu544del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603842A>C | CA352146298 | SCN5A | c.1760T>G (p.Leu587Arg) c.1631T>G (p.Leu544Arg) | |
3 | g.38603842A>G | CA352146300 | SCN5A | c.1760T>C (p.Leu587Pro) c.1631T>C (p.Leu544Pro) | |
3 | g.38603842A>T | CA352146302 | SCN5A | c.1760T>A (p.Leu587His) c.1631T>A (p.Leu544His) | |
3 | g.38603843G>A | CA352146315 | SCN5A | c.1759C>T (p.Leu587Phe) c.1630C>T (p.Leu544Phe) | gnomAD v4 |
3 | g.38603843G>C | CA352146313 | SCN5A | c.1759C>G (p.Leu587Val) c.1630C>G (p.Leu544Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603843G= | CA1358584918 | SCN5A | c.1759C= (p.Leu587=) c.1630C= (p.Leu544=) | |
3 | g.38603843G>T | CA352146312 | SCN5A | c.1759C>A (p.Leu587Ile) c.1630C>A (p.Leu544Ile) | |
3 | g.38603844G>A | CA433332966 | SCN5A | c.1758C>T (p.Ala586=) c.1629C>T (p.Ala543=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603844G>C | CA433332968 | SCN5A | c.1758C>G (p.Ala586=) c.1629C>G (p.Ala543=) | |
3 | g.38603844G= | CA1358584919 | SCN5A | c.1758C= (p.Ala586=) c.1629C= (p.Ala543=) | |
3 | g.38603844G>T | CA433332970 | SCN5A | c.1758C>A (p.Ala586=) c.1629C>A (p.Ala543=) | dbSNP |
3 | g.38603845G>A | CA352146319 | SCN5A | c.1757C>T (p.Ala586Val) c.1628C>T (p.Ala543Val) | |
3 | g.38603845G>C | CA058770 | SCN5A | c.1757C>G (p.Ala586Gly) c.1628C>G (p.Ala543Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603845G= | CA1358584920 | SCN5A | c.1757C= (p.Ala586=) c.1628C= (p.Ala543=) | |
3 | g.38603845G>T | CA352146321 | SCN5A | c.1757C>A (p.Ala586Asp) c.1628C>A (p.Ala543Asp) | |
3 | g.38603846C>A | CA352146325 | SCN5A | c.1756G>T (p.Ala586Ser) c.1627G>T (p.Ala543Ser) | |
3 | g.38603846C= | CA1358584921 | SCN5A | c.1756G= (p.Ala586=) c.1627G= (p.Ala543=) | |
3 | g.38603846C>G | CA352146326 | SCN5A | c.1756G>C (p.Ala586Pro) c.1627G>C (p.Ala543Pro) | |
3 | g.38603846C>T | CA015347 | SCN5A | c.1756G>A (p.Ala586Thr) c.1627G>A (p.Ala543Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603847G>A | CA015323 | SCN5A | c.1755C>T (p.His585=) c.1626C>T (p.His542=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603847G>C | CA352146332 | SCN5A | c.1755C>G (p.His585Gln) c.1626C>G (p.His542Gln) | gnomAD v4 |
3 | g.38603847G= | CA1358584922 | SCN5A | c.1755C= (p.His585=) c.1626C= (p.His542=) | |
3 | g.38603847G>T | CA352146330 | SCN5A | c.1755C>A (p.His585Gln) c.1626C>A (p.His542Gln) | |
3 | g.38603848T>A | CA352146335 | SCN5A | c.1754A>T (p.His585Leu) c.1625A>T (p.His542Leu) | |
3 | g.38603848T>C | CA352146338 | SCN5A | c.1754A>G (p.His585Arg) c.1625A>G (p.His542Arg) | |
3 | g.38603848T>G | CA352146337 | SCN5A | c.1754A>C (p.His585Pro) c.1625A>C (p.His542Pro) | |
3 | g.38603848dup | CA2840078123 | SCN5A | c.1754dup (p.His585GlnfsTer?) c.1625dup (p.His542GlnfsTer?) | |
3 | g.38603848_38603849delinsTG | CA1358584923 | SCN5A | c.1753_1754delinsCA (p.His585=) c.1624_1625delinsCA (p.His542=) | |
3 | g.38603849G>A | CA352146342 | SCN5A | c.1753C>T (p.His585Tyr) c.1624C>T (p.His542Tyr) | gnomAD v4 |
3 | g.38603849G>C | CA352146345 | SCN5A | c.1753C>G (p.His585Asp) c.1624C>G (p.His542Asp) | |
3 | g.38603849G>T | CA352146347 | SCN5A | c.1753C>A (p.His585Asn) c.1624C>A (p.His542Asn) | |
3 | g.38603850del | CA015310 | SCN5A | c.1753del (p.His585ThrfsTer?) c.1624del (p.His542ThrfsTer?) | ClinVar dbSNP |
3 | g.38603850G>A | CA433332993 | SCN5A | c.1752C>T (p.Gly584=) c.1623C>T (p.Gly541=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603850G>C | CA433332987 | SCN5A | c.1752C>G (p.Gly584=) c.1623C>G (p.Gly541=) | ClinVar dbSNP |
3 | g.38603850G= | CA1358584924 | SCN5A | c.1752C= (p.Gly584=) c.1623C= (p.Gly541=) | |
3 | g.38603850G>T | CA433332990 | SCN5A | c.1752C>A (p.Gly584=) c.1623C>A (p.Gly541=) | |
3 | g.38603851C>A | CA352146349 | SCN5A | c.1751G>T (p.Gly584Val) c.1622G>T (p.Gly541Val) | |
3 | g.38603851C>G | CA352146351 | SCN5A | c.1751G>C (p.Gly584Ala) c.1622G>C (p.Gly541Ala) | |
3 | g.38603851C>T | CA352146354 | SCN5A | c.1751G>A (p.Gly584Asp) c.1622G>A (p.Gly541Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603852C>A | CA352146357 | SCN5A | c.1750G>T (p.Gly584Cys) c.1621G>T (p.Gly541Cys) | gnomAD v4 |
3 | g.38603852C= | CA1358584925 | SCN5A | c.1750G= (p.Gly584=) c.1621G= (p.Gly541=) | |
3 | g.38603852C>G | CA058722 | SCN5A | c.1750G>C (p.Gly584Arg) c.1621G>C (p.Gly541Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603852C>T | CA352146360 | SCN5A | c.1750G>A (p.Gly584Ser) c.1621G>A (p.Gly541Ser) | |
3 | g.38603853A>C | CA433332998 | SCN5A | c.1749T>G (p.Pro583=) c.1620T>G (p.Pro540=) | |
3 | g.38603853A>G | CA433333000 | SCN5A | c.1749T>C (p.Pro583=) c.1620T>C (p.Pro540=) | |
3 | g.38603853A>T | CA433333004 | SCN5A | c.1749T>A (p.Pro583=) c.1620T>A (p.Pro540=) | |
3 | g.38603854G>A | CA352146362 | SCN5A | c.1748C>T (p.Pro583Leu) c.1619C>T (p.Pro540Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603854G>C | CA352146363 | SCN5A | c.1748C>G (p.Pro583Arg) c.1619C>G (p.Pro540Arg) | |
3 | g.38603854G= | CA1358584926 | SCN5A | c.1748C= (p.Pro583=) c.1619C= (p.Pro540=) | |
3 | g.38603854G>T | CA352146365 | SCN5A | c.1748C>A (p.Pro583His) c.1619C>A (p.Pro540His) | |
3 | g.38603855G>A | CA352146370 | SCN5A | c.1747C>T (p.Pro583Ser) c.1618C>T (p.Pro540Ser) | COSMIC COSMIC COSMIC |
3 | g.38603855G>C | CA352146369 | SCN5A | c.1747C>G (p.Pro583Ala) c.1618C>G (p.Pro540Ala) | |
3 | g.38603855G>T | CA352146368 | SCN5A | c.1747C>A (p.Pro583Thr) c.1618C>A (p.Pro540Thr) | |
3 | g.38603856A>C | CA433333009 | SCN5A | c.1746T>G (p.Ala582=) c.1617T>G (p.Ala539=) | |
3 | g.38603856A>G | CA433333008 | SCN5A | c.1746T>C (p.Ala582=) c.1617T>C (p.Ala539=) | |
3 | g.38603856A>T | CA433333014 | SCN5A | c.1746T>A (p.Ala582=) c.1617T>A (p.Ala539=) | |
3 | g.38603857G>A | CA352146371 | SCN5A | c.1745C>T (p.Ala582Val) c.1616C>T (p.Ala539Val) | |
3 | g.38603857G>C | CA352146372 | SCN5A | c.1745C>G (p.Ala582Gly) c.1616C>G (p.Ala539Gly) | dbSNP |
3 | g.38603857G= | CA1358584927 | SCN5A | c.1745C= (p.Ala582=) c.1616C= (p.Ala539=) | |
3 | g.38603857G>T | CA352146375 | SCN5A | c.1745C>A (p.Ala582Asp) c.1616C>A (p.Ala539Asp) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603858C>A | CA352146376 | SCN5A | c.1744G>T (p.Ala582Ser) c.1615G>T (p.Ala539Ser) | |
3 | g.38603858C>G | CA352146377 | SCN5A | c.1744G>C (p.Ala582Pro) c.1615G>C (p.Ala539Pro) | |
3 | g.38603858C>T | CA352146378 | SCN5A | c.1744G>A (p.Ala582Thr) c.1615G>A (p.Ala539Thr) | gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603859C>A | CA058709 | SCN5A | c.1743G>T (p.Ser581=) c.1614G>T (p.Ser538=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603859C= | CA1358584928 | SCN5A | c.1743G= (p.Ser581=) c.1614G= (p.Ser538=) | |
3 | g.38603859C>G | CA433333022 | SCN5A | c.1743G>C (p.Ser581=) c.1614G>C (p.Ser538=) | dbSNP |
3 | g.38603859C>T | CA015302 | SCN5A | c.1743G>A (p.Ser581=) c.1614G>A (p.Ser538=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603860G>A | CA058688 | SCN5A | c.1742C>T (p.Ser581Leu) c.1613C>T (p.Ser538Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603860G>C | CA352146383 | SCN5A | c.1742C>G (p.Ser581Trp) c.1613C>G (p.Ser538Trp) | |
3 | g.38603860G= | CA1358584929 | SCN5A | c.1742C= (p.Ser581=) c.1613C= (p.Ser538=) | |
3 | g.38603860G>T | CA352146385 | SCN5A | c.1742C>A (p.Ser581Ter) c.1613C>A (p.Ser538Ter) | dbSNP |
3 | g.38603861A>C | CA352146390 | SCN5A | c.1741T>G (p.Ser581Ala) c.1612T>G (p.Ser538Ala) | |
3 | g.38603861A>G | CA352146391 | SCN5A | c.1741T>C (p.Ser581Pro) c.1612T>C (p.Ser538Pro) | |
3 | g.38603861A>T | CA352146389 | SCN5A | c.1741T>A (p.Ser581Thr) c.1612T>A (p.Ser538Thr) | |
3 | g.38603862G>A | CA433333030 | SCN5A | c.1740C>T (p.Thr580=) c.1611C>T (p.Thr537=) | gnomAD v4 |
3 | g.38603862G>C | CA433333031 | SCN5A | c.1740C>G (p.Thr580=) c.1611C>G (p.Thr537=) | |
3 | g.38603862G>T | CA433333032 | SCN5A | c.1740C>A (p.Thr580=) c.1611C>A (p.Thr537=) | |
3 | g.38603863G>A | CA352146397 | SCN5A | c.1739C>T (p.Thr580Ile) c.1610C>T (p.Thr537Ile) | |
3 | g.38603863G>C | CA352146400 | SCN5A | c.1739C>G (p.Thr580Ser) c.1610C>G (p.Thr537Ser) | |
3 | g.38603863G>T | CA352146401 | SCN5A | c.1739C>A (p.Thr580Asn) c.1610C>A (p.Thr537Asn) | gnomAD v4 |
3 | g.38603864T>A | CA352146404 | SCN5A | c.1738A>T (p.Thr580Ser) c.1609A>T (p.Thr537Ser) | |
3 | g.38603864T>C | CA352146407 | SCN5A | c.1738A>G (p.Thr580Ala) c.1609A>G (p.Thr537Ala) | |
3 | g.38603864T>G | CA352146409 | SCN5A | c.1738A>C (p.Thr580Pro) c.1609A>C (p.Thr537Pro) | |
3 | g.38603865T>A | CA433333042 | SCN5A | c.1737A>T (p.Gly579=) c.1608A>T (p.Gly536=) | |
3 | g.38603865T>C | CA433333043 | SCN5A | c.1737A>G (p.Gly579=) c.1608A>G (p.Gly536=) | ClinVar |
3 | g.38603865T>G | CA433333044 | SCN5A | c.1737A>C (p.Gly579=) c.1608A>C (p.Gly536=) | |
3 | g.38603866C>A | CA352146412 | SCN5A | c.1736G>T (p.Gly579Val) c.1607G>T (p.Gly536Val) | |
3 | g.38603866C= | CA1358584930 | SCN5A | c.1736G= (p.Gly579=) c.1607G= (p.Gly536=) | |
3 | g.38603866C>G | CA352146411 | SCN5A | c.1736G>C (p.Gly579Ala) c.1607G>C (p.Gly536Ala) | |
3 | g.38603866C>T | CA72939151 | SCN5A | c.1736G>A (p.Gly579Glu) c.1607G>A (p.Gly536Glu) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603867C>A | CA352146413 | SCN5A | c.1735G>T (p.Gly579Ter) c.1606G>T (p.Gly536Ter) | dbSNP |
3 | g.38603867C= | CA1358584931 | SCN5A | c.1735G= (p.Gly579=) c.1606G= (p.Gly536=) | |
3 | g.38603867C>G | CA352146415 | SCN5A | c.1735G>C (p.Gly579Arg) c.1606G>C (p.Gly536Arg) | |
3 | g.38603867C>T | CA015293 | SCN5A | c.1735G>A (p.Gly579Arg) c.1606G>A (p.Gly536Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>A | CA058673 | SCN5A | c.1734C>T (p.Pro578=) c.1605C>T (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603868G>C | CA433333051 | SCN5A | c.1734C>G (p.Pro578=) c.1605C>G (p.Pro535=) | |
3 | g.38603868G= | CA1358584932 | SCN5A | c.1734C= (p.Pro578=) c.1605C= (p.Pro535=) | |
3 | g.38603868G>T | CA058665 | SCN5A | c.1734C>A (p.Pro578=) c.1605C>A (p.Pro535=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603869G>A | CA352146421 | SCN5A | c.1733C>T (p.Pro578Leu) c.1604C>T (p.Pro535Leu) | COSMIC COSMIC COSMIC |
3 | g.38603869G>C | CA352146423 | SCN5A | c.1733C>G (p.Pro578Arg) c.1604C>G (p.Pro535Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603869G= | CA1358584933 | SCN5A | c.1733C= (p.Pro578=) c.1604C= (p.Pro535=) | |
3 | g.38603869G>T | CA352146422 | SCN5A | c.1733C>A (p.Pro578His) c.1604C>A (p.Pro535His) | gnomAD v4 |
3 | g.38603870G>A | CA352146425 | SCN5A | c.1732C>T (p.Pro578Ser) c.1603C>T (p.Pro535Ser) | dbSNP |
3 | g.38603870G>C | CA352146426 | SCN5A | c.1732C>G (p.Pro578Ala) c.1603C>G (p.Pro535Ala) | |
3 | g.38603870G= | CA1358584934 | SCN5A | c.1732C= (p.Pro578=) c.1603C= (p.Pro535=) | |
3 | g.38603870G>T | CA352146429 | SCN5A | c.1732C>A (p.Pro578Thr) c.1603C>A (p.Pro535Thr) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603871A>C | CA352146431 | SCN5A | c.1731T>G (p.Ser577Arg) c.1602T>G (p.Ser534Arg) | |
3 | g.38603871A>G | CA433333059 | SCN5A | c.1731T>C (p.Ser577=) c.1602T>C (p.Ser534=) | |
3 | g.38603871A>T | CA352146433 | SCN5A | c.1731T>A (p.Ser577Arg) c.1602T>A (p.Ser534Arg) | |
3 | g.38603872C>A | CA352146444 | SCN5A | c.1730G>T (p.Ser577Ile) c.1601G>T (p.Ser534Ile) | |
3 | g.38603872C= | CA1358584935 | SCN5A | c.1730G= (p.Ser577=) c.1601G= (p.Ser534=) | |
3 | g.38603872C>G | CA352146447 | SCN5A | c.1730G>C (p.Ser577Thr) c.1601G>C (p.Ser534Thr) | gnomAD v4 |
3 | g.38603872C>T | CA352146450 | SCN5A | c.1730G>A (p.Ser577Asn) c.1601G>A (p.Ser534Asn) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603873T>A | CA352146451 | SCN5A | c.1729A>T (p.Ser577Cys) c.1600A>T (p.Ser534Cys) | |
3 | g.38603873T>C | CA352146453 | SCN5A | c.1729A>G (p.Ser577Gly) c.1600A>G (p.Ser534Gly) | |
3 | g.38603873T>G | CA352146456 | SCN5A | c.1729A>C (p.Ser577Arg) c.1600A>C (p.Ser534Arg) | ClinVar dbSNP gnomAD v4 |
3 | g.38603873T= | CA1358584936 | SCN5A | c.1729A= (p.Ser577=) c.1600A= (p.Ser534=) | |
3 | g.38603874G>A | CA433333068 | SCN5A | c.1728C>T (p.Pro576=) c.1599C>T (p.Pro533=) | ClinVar dbSNP |
3 | g.38603874G>C | CA433333069 | SCN5A | c.1728C>G (p.Pro576=) c.1599C>G (p.Pro533=) | ClinVar dbSNP |
3 | g.38603874G= | CA1358584937 | SCN5A | c.1728C= (p.Pro576=) c.1599C= (p.Pro533=) | |
3 | g.38603874G>T | CA433333071 | SCN5A | c.1728C>A (p.Pro576=) c.1599C>A (p.Pro533=) | |
3 | g.38603875G>A | CA352146464 | SCN5A | c.1727C>T (p.Pro576Leu) c.1598C>T (p.Pro533Leu) | gnomAD v4 |
3 | g.38603875G>C | CA352146462 | SCN5A | c.1727C>G (p.Pro576Arg) c.1598C>G (p.Pro533Arg) | |
3 | g.38603875G>T | CA352146459 | SCN5A | c.1727C>A (p.Pro576His) c.1598C>A (p.Pro533His) | |
3 | g.38603876G>A | CA352146467 | SCN5A | c.1726C>T (p.Pro576Ser) c.1597C>T (p.Pro533Ser) | COSMIC COSMIC COSMIC |
3 | g.38603876G>C | CA352146468 | SCN5A | c.1726C>G (p.Pro576Ala) c.1597C>G (p.Pro533Ala) | ClinVar dbSNP |
3 | g.38603876G= | CA1358584938 | SCN5A | c.1726C= (p.Pro576=) c.1597C= (p.Pro533=) | |
3 | g.38603876G>T | CA352146472 | SCN5A | c.1726C>A (p.Pro576Thr) c.1597C>A (p.Pro533Thr) | |
3 | g.38603877C>A | CA352146485 | SCN5A | c.1725G>T (p.Gln575His) c.1596G>T (p.Gln532His) | |
3 | g.38603877C>G | CA352146488 | SCN5A | c.1725G>C (p.Gln575His) c.1596G>C (p.Gln532His) | |
3 | g.38603877C>T | CA433333075 | SCN5A | c.1725G>A (p.Gln575=) c.1596G>A (p.Gln532=) | COSMIC COSMIC COSMIC |
3 | g.38603878T>A | CA352146498 | SCN5A | c.1724A>T (p.Gln575Leu) c.1595A>T (p.Gln532Leu) | |
3 | g.38603878T>C | CA352146497 | SCN5A | c.1724A>G (p.Gln575Arg) c.1595A>G (p.Gln532Arg) | gnomAD v4 |
3 | g.38603878T>G | CA352146491 | SCN5A | c.1724A>C (p.Gln575Pro) c.1595A>C (p.Gln532Pro) | |
3 | g.38603879G>A | CA352146500 | SCN5A | c.1723C>T (p.Gln575Ter) c.1594C>T (p.Gln532Ter) | dbSNP |
3 | g.38603879G>C | CA352146502 | SCN5A | c.1723C>G (p.Gln575Glu) c.1594C>G (p.Gln532Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.38603879G= | CA1358584939 | SCN5A | c.1723C= (p.Gln575=) c.1594C= (p.Gln532=) | |
3 | g.38603879G>T | CA352146504 | SCN5A | c.1723C>A (p.Gln575Lys) c.1594C>A (p.Gln532Lys) | |
3 | g.38603880T>A | CA433333084 | SCN5A | c.1722A>T (p.Gly574=) c.1593A>T (p.Gly531=) | |
3 | g.38603880T>C | CA433333085 | SCN5A | c.1722A>G (p.Gly574=) c.1593A>G (p.Gly531=) | |
3 | g.38603880T>G | CA433333087 | SCN5A | c.1722A>C (p.Gly574=) c.1593A>C (p.Gly531=) | |
3 | g.38603881C>A | CA352146507 | SCN5A | c.1721G>T (p.Gly574Val) c.1592G>T (p.Gly531Val) | |
3 | g.38603881C= | CA1358584940 | SCN5A | c.1721G= (p.Gly574=) c.1592G= (p.Gly531=) | |
3 | g.38603881C>G | CA352146509 | SCN5A | c.1721G>C (p.Gly574Ala) c.1592G>C (p.Gly531Ala) | |
3 | g.38603881C>T | CA352146511 | SCN5A | c.1721G>A (p.Gly574Glu) c.1592G>A (p.Gly531Glu) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603883del | CA2586971909 | SCN5A | c.1721del (p.Gly574AspfsTer?) c.1592del (p.Gly531AspfsTer?) | |
3 | g.38603882C>A | CA352146520 | SCN5A | c.1720G>T (p.Gly574Ter) c.1591G>T (p.Gly531Ter) | |
3 | g.38603882C>G | CA352146514 | SCN5A | c.1720G>C (p.Gly574Arg) c.1591G>C (p.Gly531Arg) | |
3 | g.38603882C>T | CA352146517 | SCN5A | c.1720G>A (p.Gly574Arg) c.1591G>A (p.Gly531Arg) | |
3 | g.38603883C>A | CA352146522 | SCN5A | c.1719G>T (p.Gln573His) c.1590G>T (p.Gln530His) | |
3 | g.38603883C>G | CA352146525 | SCN5A | c.1719G>C (p.Gln573His) c.1590G>C (p.Gln530His) | |
3 | g.38603883C>T | CA433333090 | SCN5A | c.1719G>A (p.Gln573=) c.1590G>A (p.Gln530=) | |
3 | g.38603884T>A | CA352146529 | SCN5A | c.1718A>T (p.Gln573Leu) c.1589A>T (p.Gln530Leu) | |
3 | g.38603884T>C | CA352146531 | SCN5A | c.1718A>G (p.Gln573Arg) c.1589A>G (p.Gln530Arg) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603884T>G | CA352146534 | SCN5A | c.1718A>C (p.Gln573Pro) c.1589A>C (p.Gln530Pro) | |
3 | g.38603884T= | CA1358584941 | SCN5A | c.1718A= (p.Gln573=) c.1589A= (p.Gln530=) | |
3 | g.38603885G>A | CA352146536 | SCN5A | c.1717C>T (p.Gln573Ter) c.1588C>T (p.Gln530Ter) | |
3 | g.38603885G>C | CA015285 | SCN5A | c.1717C>G (p.Gln573Glu) c.1588C>G (p.Gln530Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603885G= | CA1358584942 | SCN5A | c.1717C= (p.Gln573=) c.1588C= (p.Gln530=) | |
3 | g.38603885G>T | CA352146539 | SCN5A | c.1717C>A (p.Gln573Lys) c.1588C>A (p.Gln530Lys) | |
3 | g.38603887dup | CA2840078124 | SCN5A | c.1717dup (p.Gln573ProfsTer?) c.1588dup (p.Gln530ProfsTer?) | |
3 | g.38603887del | CA2595895042 | SCN5A | c.1717del (p.Gln573ArgfsTer?) c.1588del (p.Gln530ArgfsTer?) | gnomAD v3 gnomAD v4 |
3 | g.38603886G>A | CA72939164 | SCN5A | c.1716C>T (p.Ala572=) c.1587C>T (p.Ala529=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603886G>C | CA433333098 | SCN5A | c.1716C>G (p.Ala572=) c.1587C>G (p.Ala529=) | |
3 | g.38603886G= | CA1358584943 | SCN5A | c.1716C= (p.Ala572=) c.1587C= (p.Ala529=) | |
3 | g.38603886G>T | CA433333099 | SCN5A | c.1716C>A (p.Ala572=) c.1587C>A (p.Ala529=) | |
3 | g.38603887G>A | CA015275 | SCN5A | c.1715C>T (p.Ala572Val) c.1586C>T (p.Ala529Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603887G>C | CA72939170 | SCN5A | c.1715C>G (p.Ala572Gly) c.1586C>G (p.Ala529Gly) | ClinVar dbSNP gnomAD v4 |
3 | g.38603887G= | CA1358584945 | SCN5A | c.1715C= (p.Ala572=) c.1586C= (p.Ala529=) | |
3 | g.38603887G>T | CA015266 | SCN5A | c.1715C>A (p.Ala572Asp) c.1586C>A (p.Ala529Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603887_38603888delinsAA | CA015243 | SCN5A | c.1714_1715delinsTT (p.Ala572Phe) c.1585_1586delinsTT (p.Ala529Phe) | ClinVar dbSNP |
3 | g.38603887_38603888delinsGC | CA1358584944 | SCN5A | c.1714_1715delinsGC (p.Ala572=) c.1585_1586delinsGC (p.Ala529=) | |
3 | g.38603888C>A | CA015256 | SCN5A | c.1714G>T (p.Ala572Ser) c.1585G>T (p.Ala529Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603888C= | CA1358584946 | SCN5A | c.1714G= (p.Ala572=) c.1585G= (p.Ala529=) | |
3 | g.38603888C>G | CA352146560 | SCN5A | c.1714G>C (p.Ala572Pro) c.1585G>C (p.Ala529Pro) | gnomAD v4 |
3 | g.38603888C>T | CA352146556 | SCN5A | c.1714G>A (p.Ala572Thr) c.1585G>A (p.Ala529Thr) | gnomAD v4 |
3 | g.38603889A= | CA1358584947 | SCN5A | c.1713T= (p.Ser571=) c.1584T= (p.Ser528=) | |
3 | g.38603889A>C | CA352146564 | SCN5A | c.1713T>G (p.Ser571Arg) c.1584T>G (p.Ser528Arg) | |
3 | g.38603889A>G | CA058614 | SCN5A | c.1713T>C (p.Ser571=) c.1584T>C (p.Ser528=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603889A>T | CA352146567 | SCN5A | c.1713T>A (p.Ser571Arg) c.1584T>A (p.Ser528Arg) | |
3 | g.38603890C>A | CA015234 | SCN5A | c.1712G>T (p.Ser571Ile) c.1583G>T (p.Ser528Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603890C= | CA1358584948 | SCN5A | c.1712G= (p.Ser571=) c.1583G= (p.Ser528=) | |
3 | g.38603890C>G | CA352146569 | SCN5A | c.1712G>C (p.Ser571Thr) c.1583G>C (p.Ser528Thr) | |
3 | g.38603890C>T | CA352146572 | SCN5A | c.1712G>A (p.Ser571Asn) c.1583G>A (p.Ser528Asn) | |
3 | g.38603890_38603891delinsCT | CA1358584949 | SCN5A | c.1711_1712delinsAG (p.Ser571=) c.1582_1583delinsAG (p.Ser528=) | |
3 | g.38603891del | CA015225 | SCN5A | c.1711del (p.Ser571ValfsTer?) c.1582del (p.Ser528ValfsTer?) | ClinVar dbSNP |
3 | g.38603891T>A | CA352146575 | SCN5A | c.1711A>T (p.Ser571Cys) c.1582A>T (p.Ser528Cys) | |
3 | g.38603891T>C | CA352146577 | SCN5A | c.1711A>G (p.Ser571Gly) c.1582A>G (p.Ser528Gly) | |
3 | g.38603891T>G | CA352146578 | SCN5A | c.1711A>C (p.Ser571Arg) c.1582A>C (p.Ser528Arg) | |
3 | g.38603892G>A | CA433333111 | SCN5A | c.1710C>T (p.Thr570=) c.1581C>T (p.Thr527=) | |
3 | g.38603892G>C | CA16611273 | SCN5A | c.1710C>G (p.Thr570=) c.1581C>G (p.Thr527=) | ClinVar dbSNP |
3 | g.38603892G= | CA1358584950 | SCN5A | c.1710C= (p.Thr570=) c.1581C= (p.Thr527=) | |
3 | g.38603892G>T | CA433333112 | SCN5A | c.1710C>A (p.Thr570=) c.1581C>A (p.Thr527=) | ClinVar dbSNP gnomAD v4 |
3 | g.38603893G>A | CA352146581 | SCN5A | c.1709C>T (p.Thr570Ile) c.1580C>T (p.Thr527Ile) | |
3 | g.38603893G>C | CA352146582 | SCN5A | c.1709C>G (p.Thr570Ser) c.1580C>G (p.Thr527Ser) | |
3 | g.38603893G= | CA1358584951 | SCN5A | c.1709C= (p.Thr570=) c.1580C= (p.Thr527=) | |
3 | g.38603893G>T | CA058593 | SCN5A | c.1709C>A (p.Thr570Asn) c.1580C>A (p.Thr527Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603894T>A | CA352146587 | SCN5A | c.1708A>T (p.Thr570Ser) c.1579A>T (p.Thr527Ser) | |
3 | g.38603894T>C | CA352146593 | SCN5A | c.1708A>G (p.Thr570Ala) c.1579A>G (p.Thr527Ala) | |
3 | g.38603894T>G | CA352146590 | SCN5A | c.1708A>C (p.Thr570Pro) c.1579A>C (p.Thr527Pro) | |
3 | g.38603895C>A | CA058580 | SCN5A | c.1707G>T (p.Arg569=) c.1578G>T (p.Arg526=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603895C= | CA1358584952 | SCN5A | c.1707G= (p.Arg569=) c.1578G= (p.Arg526=) | |
3 | g.38603895C>G | CA433333115 | SCN5A | c.1707G>C (p.Arg569=) c.1578G>C (p.Arg526=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603895C>T | CA433333117 | SCN5A | c.1707G>A (p.Arg569=) c.1578G>A (p.Arg526=) | gnomAD v4 |
3 | g.38603896C>A | CA352146597 | SCN5A | c.1706G>T (p.Arg569Leu) c.1577G>T (p.Arg526Leu) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603896C= | CA1358584953 | SCN5A | c.1706G= (p.Arg569=) c.1577G= (p.Arg526=) | |
3 | g.38603896C>G | CA352146600 | SCN5A | c.1706G>C (p.Arg569Pro) c.1577G>C (p.Arg526Pro) | |
3 | g.38603896C>T | CA015215 | SCN5A | c.1706G>A (p.Arg569Gln) c.1577G>A (p.Arg526Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603897G>A | CA015203 | SCN5A | c.1705C>T (p.Arg569Trp) c.1576C>T (p.Arg526Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603897G>C | CA015193 | SCN5A | c.1705C>G (p.Arg569Gly) c.1576C>G (p.Arg526Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603897G= | CA1358584954 | SCN5A | c.1705C= (p.Arg569=) c.1576C= (p.Arg526=) | |
3 | g.38603897G>T | CA433333121 | SCN5A | c.1705C>A (p.Arg569=) c.1576C>A (p.Arg526=) | |
3 | g.38603898dup | CA2586971910 | SCN5A | c.1705dup (p.Arg569ProfsTer?) c.1576dup (p.Arg526ProfsTer?) | |
3 | g.38603898G>A | CA058553 | SCN5A | c.1704C>T (p.Arg568=) c.1575C>T (p.Arg525=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38603898G>C | CA433333122 | SCN5A | c.1704C>G (p.Arg568=) c.1575C>G (p.Arg525=) | |
3 | g.38603898G= | CA1358584955 | SCN5A | c.1704C= (p.Arg568=) c.1575C= (p.Arg525=) | |
3 | g.38603898G>T | CA433333123 | SCN5A | c.1704C>A (p.Arg568=) c.1575C>A (p.Arg525=) | |
3 | g.38603899C>A | CA352146612 | SCN5A | c.1703G>T (p.Arg568Leu) c.1574G>T (p.Arg525Leu) | gnomAD v4 |
3 | g.38603899C= | CA1358584956 | SCN5A | c.1703G= (p.Arg568=) c.1574G= (p.Arg525=) | |
3 | g.38603899C>G | CA352146614 | SCN5A | c.1703G>C (p.Arg568Pro) c.1574G>C (p.Arg525Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603899C>T | CA015185 | SCN5A | c.1703G>A (p.Arg568His) c.1574G>A (p.Arg525His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603899dup | CA2665114731 | SCN5A | c.1703dup (p.Arg569ProfsTer?) c.1574dup (p.Arg526ProfsTer?) | gnomAD v4 |
3 | g.38603900G>A | CA058533 | SCN5A | c.1702C>T (p.Arg568Cys) c.1573C>T (p.Arg525Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603900G>C | CA352146622 | SCN5A | c.1702C>G (p.Arg568Gly) c.1573C>G (p.Arg525Gly) | |
3 | g.38603900G= | CA1358584957 | SCN5A | c.1702C= (p.Arg568=) c.1573C= (p.Arg525=) | |
3 | g.38603900G>T | CA352146619 | SCN5A | c.1702C>A (p.Arg568Ser) c.1573C>A (p.Arg525Ser) | |
3 | g.38603901C>A | CA433333126 | SCN5A | c.1701G>T (p.Leu567=) c.1572G>T (p.Leu524=) | |
3 | g.38603901C>G | CA433333127 | SCN5A | c.1701G>C (p.Leu567=) c.1572G>C (p.Leu524=) | |
3 | g.38603901C>T | CA433333128 | SCN5A | c.1701G>A (p.Leu567=) c.1572G>A (p.Leu524=) | gnomAD v4 |
3 | g.38603902A= | CA1358584958 | SCN5A | c.1700T= (p.Leu567=) c.1571T= (p.Leu524=) | |
3 | g.38603902A>C | CA352146628 | SCN5A | c.1700T>G (p.Leu567Arg) c.1571T>G (p.Leu524Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38603902A>G | CA352146631 | SCN5A | c.1700T>C (p.Leu567Pro) c.1571T>C (p.Leu524Pro) | |
3 | g.38603902A>T | CA015173 | SCN5A | c.1700T>A (p.Leu567Gln) c.1571T>A (p.Leu524Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603903G>A | CA433333130 | SCN5A | c.1699C>T (p.Leu567=) c.1570C>T (p.Leu524=) | gnomAD v4 |
3 | g.38603903G>C | CA352146633 | SCN5A | c.1699C>G (p.Leu567Val) c.1570C>G (p.Leu524Val) | |
3 | g.38603903G>T | CA352146636 | SCN5A | c.1699C>A (p.Leu567Met) c.1570C>A (p.Leu524Met) | gnomAD v4 |
3 | g.38603906dup | CA2840078125 | SCN5A | c.1699dup (p.Leu567ProfsTer?) c.1570dup (p.Leu524ProfsTer?) | |
3 | g.38603906del | CA2825001227 | SCN5A | c.1699del (p.Leu567CysfsTer?) c.1570del (p.Leu524CysfsTer?) | ClinVar |
3 | g.38603904G>A | CA058521 | SCN5A | c.1698C>T (p.Pro566=) c.1569C>T (p.Pro523=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603904G>C | CA433333132 | SCN5A | c.1698C>G (p.Pro566=) c.1569C>G (p.Pro523=) | |
3 | g.38603904G= | CA1358584959 | SCN5A | c.1698C= (p.Pro566=) c.1569C= (p.Pro523=) | |
3 | g.38603904G>T | CA433333134 | SCN5A | c.1698C>A (p.Pro566=) c.1569C>A (p.Pro523=) | |
3 | g.38603905G>A | CA352146640 | SCN5A | c.1697C>T (p.Pro566Leu) c.1568C>T (p.Pro523Leu) | gnomAD v4 |
3 | g.38603905G>C | CA352146643 | SCN5A | c.1697C>G (p.Pro566Arg) c.1568C>G (p.Pro523Arg) | |
3 | g.38603905G>T | CA352146645 | SCN5A | c.1697C>A (p.Pro566His) c.1568C>A (p.Pro523His) | |
3 | g.38603906G>A | CA352146649 | SCN5A | c.1696C>T (p.Pro566Ser) c.1567C>T (p.Pro523Ser) | ClinVar dbSNP |
3 | g.38603906G>C | CA352146655 | SCN5A | c.1696C>G (p.Pro566Ala) c.1567C>G (p.Pro523Ala) | |
3 | g.38603906G= | CA1358584960 | SCN5A | c.1696C= (p.Pro566=) c.1567C= (p.Pro523=) | |
3 | g.38603906G>T | CA352146659 | SCN5A | c.1696C>A (p.Pro566Thr) c.1567C>A (p.Pro523Thr) | |
3 | g.38603907C>A | CA352146662 | SCN5A | c.1695G>T (p.Trp565Cys) c.1566G>T (p.Trp522Cys) | |
3 | g.38603907C= | CA1358584961 | SCN5A | c.1695G= (p.Trp565=) c.1566G= (p.Trp522=) | |
3 | g.38603907C>G | CA352146667 | SCN5A | c.1695G>C (p.Trp565Cys) c.1566G>C (p.Trp522Cys) | |
3 | g.38603907C>T | CA352146669 | SCN5A | c.1695G>A (p.Trp565Ter) c.1566G>A (p.Trp522Ter) | dbSNP |
3 | g.38603908C>A | CA352146671 | SCN5A | c.1694G>T (p.Trp565Leu) c.1565G>T (p.Trp522Leu) | |
3 | g.38603908C>G | CA352146673 | SCN5A | c.1694G>C (p.Trp565Ser) c.1565G>C (p.Trp522Ser) | |
3 | g.38603908C>T | CA352146675 | SCN5A | c.1694G>A (p.Trp565Ter) c.1565G>A (p.Trp522Ter) | |
3 | g.38603909A= | CA1358584962 | SCN5A | c.1693T= (p.Trp565=) c.1564T= (p.Trp522=) | |
3 | g.38603909A>C | CA352146682 | SCN5A | c.1693T>G (p.Trp565Gly) c.1564T>G (p.Trp522Gly) | |
3 | g.38603909A>G | CA352146678 | SCN5A | c.1693T>C (p.Trp565Arg) c.1564T>C (p.Trp522Arg) | dbSNP |
3 | g.38603909A>T | CA352146680 | SCN5A | c.1693T>A (p.Trp565Arg) c.1564T>A (p.Trp522Arg) | |
3 | g.38603910G>A | CA433332962 | SCN5A | c.1692C>T (p.Pro564=) c.1563C>T (p.Pro521=) | |
3 | g.38603910G>C | CA433332964 | SCN5A | c.1692C>G (p.Pro564=) c.1563C>G (p.Pro521=) | |
3 | g.38603910G>T | CA433332967 | SCN5A | c.1692C>A (p.Pro564=) c.1563C>A (p.Pro521=) | |
3 | g.38603911G>A | CA352146684 | SCN5A | c.1691C>T (p.Pro564Leu) c.1562C>T (p.Pro521Leu) | |
3 | g.38603911G>C | CA352146686 | SCN5A | c.1691C>G (p.Pro564Arg) c.1562C>G (p.Pro521Arg) | |
3 | g.38603911G>T | CA352146689 | SCN5A | c.1691C>A (p.Pro564His) c.1562C>A (p.Pro521His) | |
3 | g.38603912G>A | CA352146692 | SCN5A | c.1690C>T (p.Pro564Ser) c.1561C>T (p.Pro521Ser) | ClinVar dbSNP |
3 | g.38603912G>C | CA352146703 | SCN5A | c.1690C>G (p.Pro564Ala) c.1561C>G (p.Pro521Ala) | |
3 | g.38603912G= | CA1358584963 | SCN5A | c.1690C= (p.Pro564=) c.1561C= (p.Pro521=) | |
3 | g.38603912G>T | CA352146706 | SCN5A | c.1690C>A (p.Pro564Thr) c.1561C>A (p.Pro521Thr) | |
3 | g.38603913C>A | CA433332971 | SCN5A | c.1689G>T (p.Val563=) c.1560G>T (p.Val520=) | |
3 | g.38603913C>G | CA433332972 | SCN5A | c.1689G>C (p.Val563=) c.1560G>C (p.Val520=) | |
3 | g.38603913C>T | CA433332973 | SCN5A | c.1689G>A (p.Val563=) c.1560G>A (p.Val520=) | gnomAD v4 |
3 | g.38603914A= | CA1358584964 | SCN5A | c.1688T= (p.Val563=) c.1559T= (p.Val520=) | |
3 | g.38603914A>C | CA352146709 | SCN5A | c.1688T>G (p.Val563Gly) c.1559T>G (p.Val520Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603914A>G | CA352146712 | SCN5A | c.1688T>C (p.Val563Ala) c.1559T>C (p.Val520Ala) | |
3 | g.38603914A>T | CA352146714 | SCN5A | c.1688T>A (p.Val563Glu) c.1559T>A (p.Val520Glu) | |
3 | g.38603915C>A | CA352146717 | SCN5A | c.1687G>T (p.Val563Leu) c.1558G>T (p.Val520Leu) | ClinVar dbSNP gnomAD v4 |
3 | g.38603915C>G | CA352146720 | SCN5A | c.1687G>C (p.Val563Leu) c.1558G>C (p.Val520Leu) | gnomAD v4 |
3 | g.38603915C>T | CA352146722 | SCN5A | c.1687G>A (p.Val563Met) c.1558G>A (p.Val520Met) | |
3 | g.38603916C>A | CA433332986 | SCN5A | c.1686G>T (p.Leu562=) c.1557G>T (p.Leu519=) | |
3 | g.38603916C>G | CA433332988 | SCN5A | c.1686G>C (p.Leu562=) c.1557G>C (p.Leu519=) | |
3 | g.38603916C>T | CA433332992 | SCN5A | c.1686G>A (p.Leu562=) c.1557G>A (p.Leu519=) | |
3 | g.38603917A>C | CA352146727 | SCN5A | c.1685T>G (p.Leu562Arg) c.1556T>G (p.Leu519Arg) | |
3 | g.38603917A>G | CA352146731 | SCN5A | c.1685T>C (p.Leu562Pro) c.1556T>C (p.Leu519Pro) | gnomAD v4 |
3 | g.38603917A>T | CA352146729 | SCN5A | c.1685T>A (p.Leu562Gln) c.1556T>A (p.Leu519Gln) | |
3 | g.38603918G>A | CA433333007 | SCN5A | c.1684C>T (p.Leu562=) c.1555C>T (p.Leu519=) | dbSNP gnomAD v2 |
3 | g.38603918G>C | CA352146734 | SCN5A | c.1684C>G (p.Leu562Val) c.1555C>G (p.Leu519Val) | |
3 | g.38603918G= | CA1358584965 | SCN5A | c.1684C= (p.Leu562=) c.1555C= (p.Leu519=) | |
3 | g.38603918G>T | CA352146737 | SCN5A | c.1684C>A (p.Leu562Met) c.1555C>A (p.Leu519Met) | |
3 | g.38603919C>A | CA433333010 | SCN5A | c.1683G>T (p.Leu561=) c.1554G>T (p.Leu518=) | |
3 | g.38603919C= | CA1358584966 | SCN5A | c.1683G= (p.Leu561=) c.1554G= (p.Leu518=) | |
3 | g.38603919C>G | CA433333013 | SCN5A | c.1683G>C (p.Leu561=) c.1554G>C (p.Leu518=) | |
3 | g.38603919C>T | CA433333012 | SCN5A | c.1683G>A (p.Leu561=) c.1554G>A (p.Leu518=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603920A>C | CA352146740 | SCN5A | c.1682T>G (p.Leu561Arg) c.1553T>G (p.Leu518Arg) | |
3 | g.38603920A>G | CA352146742 | SCN5A | c.1682T>C (p.Leu561Pro) c.1553T>C (p.Leu518Pro) | |
3 | g.38603920A>T | CA352146745 | SCN5A | c.1682T>A (p.Leu561Gln) c.1553T>A (p.Leu518Gln) | |
3 | g.38603921G>A | CA015163 | SCN5A | c.1681C>T (p.Leu561=) c.1552C>T (p.Leu518=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603921G>C | CA352146750 | SCN5A | c.1681C>G (p.Leu561Val) c.1552C>G (p.Leu518Val) | |
3 | g.38603921G= | CA1358584967 | SCN5A | c.1681C= (p.Leu561=) c.1552C= (p.Leu518=) | |
3 | g.38603921G>T | CA352146752 | SCN5A | c.1681C>A (p.Leu561Met) c.1552C>A (p.Leu518Met) | |
3 | g.38603922T>A | CA433333024 | SCN5A | c.1680A>T (p.Ser560=) c.1551A>T (p.Ser517=) | |
3 | g.38603922T>C | CA433333021 | SCN5A | c.1680A>G (p.Ser560=) c.1551A>G (p.Ser517=) | |
3 | g.38603922T>G | CA433333020 | SCN5A | c.1680A>C (p.Ser560=) c.1551A>C (p.Ser517=) | |
3 | g.38603923G>A | CA352146756 | SCN5A | c.1679C>T (p.Ser560Leu) c.1550C>T (p.Ser517Leu) | ClinVar |
3 | g.38603923G>C | CA352146759 | SCN5A | c.1679C>G (p.Ser560Ter) c.1550C>G (p.Ser517Ter) | ClinVar |
3 | g.38603923G>T | CA352146762 | SCN5A | c.1679C>A (p.Ser560Ter) c.1550C>A (p.Ser517Ter) | |
3 | g.38603924A>C | CA352146769 | SCN5A | c.1678T>G (p.Ser560Ala) c.1549T>G (p.Ser517Ala) | |
3 | g.38603924A>G | CA352146766 | SCN5A | c.1678T>C (p.Ser560Pro) c.1549T>C (p.Ser517Pro) | |
3 | g.38603924A>T | CA352146765 | SCN5A | c.1678T>A (p.Ser560Thr) c.1549T>A (p.Ser517Thr) | |
3 | g.38603925T>A | CA433333037 | SCN5A | c.1677A>T (p.Thr559=) c.1548A>T (p.Thr516=) | |
3 | g.38603925T>C | CA72939197 | SCN5A | c.1677A>G (p.Thr559=) c.1548A>G (p.Thr516=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38603925T>G | CA433333038 | SCN5A | c.1677A>C (p.Thr559=) c.1548A>C (p.Thr516=) | |
3 | g.38603925T= | CA1358584968 | SCN5A | c.1677A= (p.Thr559=) c.1548A= (p.Thr516=) | |
3 | g.38603926G>A | CA015154 | SCN5A | c.1676C>T (p.Thr559Ile) c.1547C>T (p.Thr516Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38603926G>C | CA058488 | SCN5A | c.1676C>G (p.Thr559Arg) c.1547C>G (p.Thr516Arg) | dbSNP ExAC gnomAD v4 |
3 | g.38603926G= | CA1358584969 | SCN5A | c.1676C= (p.Thr559=) c.1547C= (p.Thr516=) | |
3 | g.38603926G>T | CA352146777 | SCN5A | c.1676C>A (p.Thr559Lys) c.1547C>A (p.Thr516Lys) | ClinVar dbSNP |
3 | g.38603927T>A | CA352146781 | SCN5A | c.1675A>T (p.Thr559Ser) c.1546A>T (p.Thr516Ser) | |
3 | g.38603927T>C | CA352146782 | SCN5A | c.1675A>G (p.Thr559Ala) c.1546A>G (p.Thr516Ala) | |
3 | g.38603927T>G | CA352146784 | SCN5A | c.1675A>C (p.Thr559Pro) c.1546A>C (p.Thr516Pro) | dbSNP |
3 | g.38603927T= | CA1358584970 | SCN5A | c.1675A= (p.Thr559=) c.1546A= (p.Thr516=) | |
3 | g.38603928G>A | CA433333049 | SCN5A | c.1674C>T (p.His558=) c.1545C>T (p.His515=) | |
3 | g.38603928G>C | CA352146786 | SCN5A | c.1674C>G (p.His558Gln) c.1545C>G (p.His515Gln) | dbSNP |
3 | g.38603928G= | CA1358584971 | SCN5A | c.1674C= (p.His558=) c.1545C= (p.His515=) | |
3 | g.38603928G>T | CA352146788 | SCN5A | c.1674C>A (p.His558Gln) c.1545C>A (p.His515Gln) | |
3 | g.38603929T>A | CA352146790 | SCN5A | c.1673A>T (p.His558Leu) c.1544A>T (p.His515Leu) | |
3 | g.38603929T>C | CA015145 | SCN5A | c.1673A>G (p.His558Arg) c.1544A>G (p.His515Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.[38603929T>C;38604067G>A] | CA085349 | SCN5A | c.[1535C>T;1673A>G] (p.[Thr512Ile;His558Arg]) c.[1406C>T;1544A>G] (p.[Thr469Ile;His515Arg]) | |
3 | g.38603929T>G | CA352146796 | SCN5A | c.1673A>C (p.His558Pro) c.1544A>C (p.His515Pro) | |
3 | g.38603929T= | CA1358584972 | SCN5A | c.1673A= (p.His558=) c.1544A= (p.His515=) | |
3 | g.38603929_38603930delinsCA | CA1139655765 | SCN5A | c.1672_1673delinsTG (p.His558Cys) c.1543_1544delinsTG (p.His515Cys) | ClinVar |