Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38603998C>A | CA352147229 | SCN5A | c.1604G>T (p.Arg535Leu) c.1475G>T (p.Arg492Leu) | |
3 | g.38603998C= | CA1358585002 | SCN5A | c.1604G= (p.Arg535=) c.1475G= (p.Arg492=) | |
3 | g.38603998C>G | CA352147232 | SCN5A | c.1604G>C (p.Arg535Pro) c.1475G>C (p.Arg492Pro) | |
3 | g.38603998C>T | CA015071 | SCN5A | c.1604G>A (p.Arg535Gln) c.1475G>A (p.Arg492Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603999G>A | CA352147237 | SCN5A | c.1603C>T (p.Arg535Ter) c.1474C>T (p.Arg492Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38603999G>C | CA352147239 | SCN5A | c.1603C>G (p.Arg535Gly) c.1474C>G (p.Arg492Gly) | |
3 | g.38603999G= | CA1358585003 | SCN5A | c.1603C= (p.Arg535=) c.1474C= (p.Arg492=) | |
3 | g.38603999G>T | CA433333195 | SCN5A | c.1603C>A (p.Arg535=) c.1474C>A (p.Arg492=) | |
3 | g.38604000C>A | CA352147240 | SCN5A | c.1602G>T (p.Arg534Ser) c.1473G>T (p.Arg491Ser) | |
3 | g.38604000C>G | CA352147241 | SCN5A | c.1602G>C (p.Arg534Ser) c.1473G>C (p.Arg491Ser) | |
3 | g.38604000C>T | CA433333199 | SCN5A | c.1602G>A (p.Arg534=) c.1473G>A (p.Arg491=) | |
3 | g.38604001C>A | CA352147249 | SCN5A | c.1601G>T (p.Arg534Met) c.1472G>T (p.Arg491Met) | |
3 | g.38604001C>G | CA352147245 | SCN5A | c.1601G>C (p.Arg534Thr) c.1472G>C (p.Arg491Thr) | |
3 | g.38604001C>T | CA352147247 | SCN5A | c.1601G>A (p.Arg534Lys) c.1472G>A (p.Arg491Lys) | |
3 | g.38604002T>A | CA352147251 | SCN5A | c.1600A>T (p.Arg534Trp) c.1471A>T (p.Arg491Trp) | COSMIC COSMIC COSMIC |
3 | g.38604002T>C | CA352147253 | SCN5A | c.1600A>G (p.Arg534Gly) c.1471A>G (p.Arg491Gly) | |
3 | g.38604002T>G | CA433333208 | SCN5A | c.1600A>C (p.Arg534=) c.1471A>C (p.Arg491=) | dbSNP |
3 | g.38604003G>A | CA433333211 | SCN5A | c.1599C>T (p.Arg533=) c.1470C>T (p.Arg490=) | COSMIC COSMIC COSMIC |
3 | g.38604003G>C | CA433333210 | SCN5A | c.1599C>G (p.Arg533=) c.1470C>G (p.Arg490=) | |
3 | g.38604003G>T | CA433333209 | SCN5A | c.1599C>A (p.Arg533=) c.1470C>A (p.Arg490=) | |
3 | g.38604004C>A | CA352147254 | SCN5A | c.1598G>T (p.Arg533Leu) c.1469G>T (p.Arg490Leu) | dbSNP |
3 | g.38604004C= | CA1358585004 | SCN5A | c.1598G= (p.Arg533=) c.1469G= (p.Arg490=) | |
3 | g.38604004C>G | CA352147258 | SCN5A | c.1598G>C (p.Arg533Pro) c.1469G>C (p.Arg490Pro) | dbSNP |
3 | g.38604004C>T | CA015061 | SCN5A | c.1598G>A (p.Arg533His) c.1469G>A (p.Arg490His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38604005G>A | CA058356 | SCN5A | c.1597C>T (p.Arg533Cys) c.1468C>T (p.Arg490Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38604005G>C | CA352147265 | SCN5A | c.1597C>G (p.Arg533Gly) c.1468C>G (p.Arg490Gly) | |
3 | g.38604005G= | CA1358585005 | SCN5A | c.1597C= (p.Arg533=) c.1468C= (p.Arg490=) | |
3 | g.38604005G>T | CA058346 | SCN5A | c.1597C>A (p.Arg533Ser) c.1468C>A (p.Arg490Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38604006A>C | CA352147266 | SCN5A | c.1596T>G (p.Phe532Leu) c.1467T>G (p.Phe489Leu) | |
3 | g.38604006A>G | CA433333218 | SCN5A | c.1596T>C (p.Phe532=) c.1467T>C (p.Phe489=) | gnomAD v4 |
3 | g.38604006A>T | CA352147268 | SCN5A | c.1596T>A (p.Phe532Leu) c.1467T>A (p.Phe489Leu) | |
3 | g.38604008del | CA2586971913 | SCN5A | c.1596del (p.Arg533AlafsTer?) c.1467del (p.Arg490AlafsTer?) | gnomAD v4 |
3 | g.38604007A= | CA1358585006 | SCN5A | c.1595T= (p.Phe532=) c.1466T= (p.Phe489=) | |
3 | g.38604007A>C | CA015051 | SCN5A | c.1595T>G (p.Phe532Cys) c.1466T>G (p.Phe489Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38604007A>G | CA352147273 | SCN5A | c.1595T>C (p.Phe532Ser) c.1466T>C (p.Phe489Ser) | |
3 | g.38604007A>T | CA352147275 | SCN5A | c.1595T>A (p.Phe532Tyr) c.1466T>A (p.Phe489Tyr) | |
3 | g.38604008A= | CA1358585007 | SCN5A | c.1594T= (p.Phe532=) c.1465T= (p.Phe489=) | |
3 | g.38604008A>C | CA352147284 | SCN5A | c.1594T>G (p.Phe532Val) c.1465T>G (p.Phe489Val) | |
3 | g.38604008A>G | CA058332 | SCN5A | c.1594T>C (p.Phe532Leu) c.1465T>C (p.Phe489Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38604008A>T | CA352147277 | SCN5A | c.1594T>A (p.Phe532Ile) c.1465T>A (p.Phe489Ile) | |
3 | g.38604009G>A | CA433333226 | SCN5A | c.1593C>T (p.Thr531=) c.1464C>T (p.Thr488=) | |
3 | g.38604009G>C | CA433333227 | SCN5A | c.1593C>G (p.Thr531=) c.1464C>G (p.Thr488=) | |
3 | g.38604009G>T | CA433333229 | SCN5A | c.1593C>A (p.Thr531=) c.1464C>A (p.Thr488=) | |
3 | g.38604010G>A | CA058323 | SCN5A | c.1592C>T (p.Thr531Ile) c.1463C>T (p.Thr488Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38604010G>C | CA352147289 | SCN5A | c.1592C>G (p.Thr531Ser) c.1463C>G (p.Thr488Ser) | |
3 | g.38604010G= | CA1358585008 | SCN5A | c.1592C= (p.Thr531=) c.1463C= (p.Thr488=) | |
3 | g.38604010G>T | CA352147292 | SCN5A | c.1592C>A (p.Thr531Asn) c.1463C>A (p.Thr488Asn) | |
3 | g.38604011T>A | CA352147299 | SCN5A | c.1591A>T (p.Thr531Ser) c.1462A>T (p.Thr488Ser) | |
3 | g.38604011T>C | CA058313 | SCN5A | c.1591A>G (p.Thr531Ala) c.1462A>G (p.Thr488Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38604011T>G | CA352147304 | SCN5A | c.1591A>C (p.Thr531Pro) c.1462A>C (p.Thr488Pro) |