Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38604057_38604083dup | CA542615631 | SCN5A | c.1520_1546dup (p.Leu515_Ser516insAsnHisLeuSerLeuThrArgGlyLeu) c.1391_1417dup (p.Leu472_Ser473insAsnHisLeuSerLeuThrArgGlyLeu) | dbSNP gnomAD v2 |
3 | g.38604071G>A | CA352147558 | SCN5A | c.1531C>T (p.Leu511Phe) c.1402C>T (p.Leu468Phe) | ClinVar dbSNP gnomAD v4 |
3 | g.38604071G>C | CA352147559 | SCN5A | c.1531C>G (p.Leu511Val) c.1402C>G (p.Leu468Val) | gnomAD v4 |
3 | g.38604071G= | CA1358585049 | SCN5A | c.1531C= (p.Leu511=) c.1402C= (p.Leu468=) | |
3 | g.38604071G>T | CA352147560 | SCN5A | c.1531C>A (p.Leu511Ile) c.1402C>A (p.Leu468Ile) | gnomAD v4 |
3 | g.38604072G>A | CA433333404 | SCN5A | c.1530C>T (p.Ser510=) c.1401C>T (p.Ser467=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.38604072G>C | CA352147563 | SCN5A | c.1530C>G (p.Ser510Arg) c.1401C>G (p.Ser467Arg) | |
3 | g.38604072G= | CA1358585050 | SCN5A | c.1530C= (p.Ser510=) c.1401C= (p.Ser467=) | |
3 | g.38604072G>T | CA352147561 | SCN5A | c.1530C>A (p.Ser510Arg) c.1401C>A (p.Ser467Arg) | |
3 | g.38604073C>A | CA352147564 | SCN5A | c.1529G>T (p.Ser510Ile) c.1400G>T (p.Ser467Ile) | gnomAD v4 |
3 | g.38604073C= | CA1358585051 | SCN5A | c.1529G= (p.Ser510=) c.1400G= (p.Ser467=) | |
3 | g.38604073C>G | CA352147565 | SCN5A | c.1529G>C (p.Ser510Thr) c.1400G>C (p.Ser467Thr) | gnomAD v4 |
3 | g.38604073C>T | CA352147567 | SCN5A | c.1529G>A (p.Ser510Asn) c.1400G>A (p.Ser467Asn) | dbSNP gnomAD v2 |
3 | g.38604074T>A | CA352147569 | SCN5A | c.1528A>T (p.Ser510Cys) c.1399A>T (p.Ser467Cys) | |
3 | g.38604074T>C | CA352147570 | SCN5A | c.1528A>G (p.Ser510Gly) c.1399A>G (p.Ser467Gly) | COSMIC COSMIC COSMIC |
3 | g.38604074T>G | CA352147572 | SCN5A | c.1528A>C (p.Ser510Arg) c.1399A>C (p.Ser467Arg) | gnomAD v4 |
3 | g.38604075G>A | CA433333411 | SCN5A | c.1527C>T (p.Leu509=) c.1398C>T (p.Leu466=) | |
3 | g.38604075G>C | CA433333412 | SCN5A | c.1527C>G (p.Leu509=) c.1398C>G (p.Leu466=) | |
3 | g.38604075G>T | CA433333413 | SCN5A | c.1527C>A (p.Leu509=) c.1398C>A (p.Leu466=) | |
3 | g.38604076A= | CA1358585052 | SCN5A | c.1526T= (p.Leu509=) c.1397T= (p.Leu466=) | |
3 | g.38604076A>C | CA352147575 | SCN5A | c.1526T>G (p.Leu509Arg) c.1397T>G (p.Leu466Arg) | |
3 | g.38604076A>G | CA352147577 | SCN5A | c.1526T>C (p.Leu509Pro) c.1397T>C (p.Leu466Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.38604076A>T | CA352147579 | SCN5A | c.1526T>A (p.Leu509His) c.1397T>A (p.Leu466His) | |
3 | g.38604077G>A | CA352147581 | SCN5A | c.1525C>T (p.Leu509Phe) c.1396C>T (p.Leu466Phe) | |
3 | g.38604077G>C | CA352147582 | SCN5A | c.1525C>G (p.Leu509Val) c.1396C>G (p.Leu466Val) | |
3 | g.38604077G>T | CA352147585 | SCN5A | c.1525C>A (p.Leu509Ile) c.1396C>A (p.Leu466Ile) | gnomAD v4 |
3 | g.38604078A>C | CA352147587 | SCN5A | c.1524T>G (p.His508Gln) c.1395T>G (p.His465Gln) | |
3 | g.38604078A>G | CA433333422 | SCN5A | c.1524T>C (p.His508=) c.1395T>C (p.His465=) | |
3 | g.38604078A>T | CA352147589 | SCN5A | c.1524T>A (p.His508Gln) c.1395T>A (p.His465Gln) | |
3 | g.38604079T>A | CA352147590 | SCN5A | c.1523A>T (p.His508Leu) c.1394A>T (p.His465Leu) | |
3 | g.38604079T>C | CA352147591 | SCN5A | c.1523A>G (p.His508Arg) c.1394A>G (p.His465Arg) | |
3 | g.38604079T>G | CA352147592 | SCN5A | c.1523A>C (p.His508Pro) c.1394A>C (p.His465Pro) | |
3 | g.38604080G>A | CA352147594 | SCN5A | c.1522C>T (p.His508Tyr) c.1393C>T (p.His465Tyr) | dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38604080G>C | CA352147596 | SCN5A | c.1522C>G (p.His508Asp) c.1393C>G (p.His465Asp) | gnomAD v4 |
3 | g.38604080G= | CA1358585053 | SCN5A | c.1522C= (p.His508=) c.1393C= (p.His465=) | |
3 | g.38604080G>T | CA352147597 | SCN5A | c.1522C>A (p.His508Asn) c.1393C>A (p.His465Asn) | |
3 | g.38604081A= | CA1358585054 | SCN5A | c.1521T= (p.Asn507=) c.1392T= (p.Asn464=) | |
3 | g.38604081A>C | CA352147601 | SCN5A | c.1521T>G (p.Asn507Lys) c.1392T>G (p.Asn464Lys) | |
3 | g.38604081A>G | CA433333426 | SCN5A | c.1521T>C (p.Asn507=) c.1392T>C (p.Asn464=) | dbSNP |
3 | g.38604081A>T | CA352147599 | SCN5A | c.1521T>A (p.Asn507Lys) c.1392T>A (p.Asn464Lys) | gnomAD v4 |
3 | g.38604082T>A | CA352147603 | SCN5A | c.1520A>T (p.Asn507Ile) c.1391A>T (p.Asn464Ile) | |
3 | g.38604082T>C | CA352147604 | SCN5A | c.1520A>G (p.Asn507Ser) c.1391A>G (p.Asn464Ser) | gnomAD v4 |
3 | g.38604082T>G | CA352147606 | SCN5A | c.1520A>C (p.Asn507Thr) c.1391A>C (p.Asn464Thr) | |
3 | g.38604083T>A | CA352147609 | SCN5A | c.1519A>T (p.Asn507Tyr) c.1390A>T (p.Asn464Tyr) | |
3 | g.38604083T>C | CA352147610 | SCN5A | c.1519A>G (p.Asn507Asp) c.1390A>G (p.Asn464Asp) | |
3 | g.38604083T>G | CA352147612 | SCN5A | c.1519A>C (p.Asn507His) c.1390A>C (p.Asn464His) | |
3 | g.38604084C>A | CA352147614 | SCN5A | c.1519-1G>T (n.1519-1G>T) c.1390-1G>T (n.1390-1G>T) | gnomAD v4 |
3 | g.38604084C= | CA1358585055 | SCN5A | c.1519-1G= (n.1519-1G=) c.1390-1G= (n.1390-1G=) | |
3 | g.38604084C>G | CA352147616 | SCN5A | c.1519-1G>C (n.1519-1G>C) c.1390-1G>C (n.1390-1G>C) | |
3 | g.38604084C>T | CA014903 | SCN5A | c.1519-1G>A (n.1519-1G>A) c.1390-1G>A (n.1390-1G>A) | ClinVar dbSNP |