Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38606700G>A | CA014345 | SCN5A | c.1109C>T (p.Thr370Met) c.980C>T (p.Thr327Met) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38606700G>C | CA352149370 | SCN5A | c.1109C>G (p.Thr370Arg) c.980C>G (p.Thr327Arg) | |
3 | g.38606700G= | CA1358586273 | SCN5A | c.1109C= (p.Thr370=) c.980C= (p.Thr327=) | |
3 | g.38606700G>T | CA352149368 | SCN5A | c.1109C>A (p.Thr370Lys) c.980C>A (p.Thr327Lys) | |
3 | g.38606701T>A | CA352149376 | SCN5A | c.1108A>T (p.Thr370Ser) c.979A>T (p.Thr327Ser) | |
3 | g.38606701T>C | CA352149374 | SCN5A | c.1108A>G (p.Thr370Ala) c.979A>G (p.Thr327Ala) | |
3 | g.38606701T>G | CA352149375 | SCN5A | c.1108A>C (p.Thr370Pro) c.979A>C (p.Thr327Pro) | |
3 | g.38606702C>A | CA352149377 | SCN5A | c.1107G>T (p.Met369Ile) c.978G>T (p.Met326Ile) | |
3 | g.38606702C>G | CA352149378 | SCN5A | c.1107G>C (p.Met369Ile) c.978G>C (p.Met326Ile) | |
3 | g.38606702C>T | CA352149379 | SCN5A | c.1107G>A (p.Met369Ile) c.978G>A (p.Met326Ile) | |
3 | g.38606703A= | CA1358586274 | SCN5A | c.1106T= (p.Met369=) c.977T= (p.Met326=) | |
3 | g.38606703A>C | CA352149380 | SCN5A | c.1106T>G (p.Met369Arg) c.977T>G (p.Met326Arg) | |
3 | g.38606703A>G | CA352149381 | SCN5A | c.1106T>C (p.Met369Thr) c.977T>C (p.Met326Thr) | ClinVar |
3 | g.38606703A>T | CA014336 | SCN5A | c.1106T>A (p.Met369Lys) c.977T>A (p.Met326Lys) | ClinVar dbSNP |
3 | g.38606704T>A | CA352149383 | SCN5A | c.1105A>T (p.Met369Leu) c.976A>T (p.Met326Leu) | |
3 | g.38606704T>C | CA352149384 | SCN5A | c.1105A>G (p.Met369Val) c.976A>G (p.Met326Val) | |
3 | g.38606704T>G | CA352149385 | SCN5A | c.1105A>C (p.Met369Leu) c.976A>C (p.Met326Leu) | |
3 | g.38606705C>A | CA433137785 | SCN5A | c.1104G>T (p.Leu368=) c.975G>T (p.Leu325=) | ClinVar |
3 | g.38606705C>G | CA433137786 | SCN5A | c.1104G>C (p.Leu368=) c.975G>C (p.Leu325=) | |
3 | g.38606705C>T | CA433137787 | SCN5A | c.1104G>A (p.Leu368=) c.975G>A (p.Leu325=) | ClinVar gnomAD v4 |
3 | g.38606705_38606706delinsCA | CA1358586275 | SCN5A | c.1103_1104delinsTG (p.Leu368=) c.974_975delinsTG (p.Leu325=) | |
3 | g.38606706del | CA916080333 | SCN5A | c.1103del (p.Leu368ArgfsTer2) c.974del (p.Leu325ArgfsTer2) | ClinVar dbSNP |
3 | g.38606706A>C | CA352149386 | SCN5A | c.1103T>G (p.Leu368Arg) c.974T>G (p.Leu325Arg) | |
3 | g.38606706A>G | CA352149387 | SCN5A | c.1103T>C (p.Leu368Pro) c.974T>C (p.Leu325Pro) | |
3 | g.38606706A>T | CA352149388 | SCN5A | c.1103T>A (p.Leu368Gln) c.974T>A (p.Leu325Gln) | |
3 | g.38606707G>A | CA433137788 | SCN5A | c.1102C>T (p.Leu368=) c.973C>T (p.Leu325=) | |
3 | g.38606707G>C | CA352149389 | SCN5A | c.1102C>G (p.Leu368Val) c.973C>G (p.Leu325Val) | |
3 | g.38606707G>T | CA352149390 | SCN5A | c.1102C>A (p.Leu368Met) c.973C>A (p.Leu325Met) | |
3 | g.38606708G>A | CA433137789 | SCN5A | c.1101C>T (p.Arg367=) c.972C>T (p.Arg324=) | |
3 | g.38606708G>C | CA433137790 | SCN5A | c.1101C>G (p.Arg367=) c.972C>G (p.Arg324=) | |
3 | g.38606708G>T | CA433137791 | SCN5A | c.1101C>A (p.Arg367=) c.972C>A (p.Arg324=) | |
3 | g.38606709C>A | CA014324 | SCN5A | c.1100G>T (p.Arg367Leu) c.971G>T (p.Arg324Leu) | ClinVar dbSNP |
3 | g.38606709C= | CA1358586276 | SCN5A | c.1100G= (p.Arg367=) c.971G= (p.Arg324=) | |
3 | g.38606709C>G | CA352149400 | SCN5A | c.1100G>C (p.Arg367Pro) c.971G>C (p.Arg324Pro) | |
3 | g.38606709C>T | CA014314 | SCN5A | c.1100G>A (p.Arg367His) c.971G>A (p.Arg324His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38606710G>A | CA014305 | SCN5A | c.1099C>T (p.Arg367Cys) c.970C>T (p.Arg324Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38606710G>C | CA352149404 | SCN5A | c.1099C>G (p.Arg367Gly) c.970C>G (p.Arg324Gly) | |
3 | g.38606710G= | CA1358586277 | SCN5A | c.1099C= (p.Arg367=) c.970C= (p.Arg324=) | |
3 | g.38606710G>T | CA352149405 | SCN5A | c.1099C>A (p.Arg367Ser) c.970C>A (p.Arg324Ser) | |
3 | g.38606710_38606711delinsAA | CA645519439 | SCN5A | c.1098_1099delinsTT (p.Arg367Cys) c.969_970delinsTT (p.Arg324Cys) | COSMIC COSMIC COSMIC |
3 | g.38606711G>A | CA057112 | SCN5A | c.1098C>T (p.Phe366=) c.969C>T (p.Phe323=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38606711G>C | CA352149408 | SCN5A | c.1098C>G (p.Phe366Leu) c.969C>G (p.Phe323Leu) | |
3 | g.38606711G= | CA1358586278 | SCN5A | c.1098C= (p.Phe366=) c.969C= (p.Phe323=) | |
3 | g.38606711G>T | CA352149410 | SCN5A | c.1098C>A (p.Phe366Leu) c.969C>A (p.Phe323Leu) | COSMIC COSMIC COSMIC |
3 | g.38606712A>C | CA352149412 | SCN5A | c.1097T>G (p.Phe366Cys) c.968T>G (p.Phe323Cys) | |
3 | g.38606712A>G | CA352149414 | SCN5A | c.1097T>C (p.Phe366Ser) c.968T>C (p.Phe323Ser) | |
3 | g.38606712A>T | CA352149416 | SCN5A | c.1097T>A (p.Phe366Tyr) c.968T>A (p.Phe323Tyr) | |
3 | g.38606713A>C | CA352149420 | SCN5A | c.1096T>G (p.Phe366Val) c.967T>G (p.Phe323Val) | |
3 | g.38606713A>G | CA352149424 | SCN5A | c.1096T>C (p.Phe366Leu) c.967T>C (p.Phe323Leu) | |
3 | g.38606713A>T | CA352149418 | SCN5A | c.1096T>A (p.Phe366Ile) c.967T>A (p.Phe323Ile) |