Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38605990G>A | CA057477 | SCN5A | c.1299C>T (p.Arg433=) c.1170C>T (p.Arg390=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38605990G>C | CA433137538 | SCN5A | c.1299C>G (p.Arg433=) c.1170C>G (p.Arg390=) | |
3 | g.38605990G= | CA1358585931 | SCN5A | c.1299C= (p.Arg433=) c.1170C= (p.Arg390=) | |
3 | g.38605990G>T | CA433137539 | SCN5A | c.1299C>A (p.Arg433=) c.1170C>A (p.Arg390=) | |
3 | g.38605991C>A | CA352148459 | SCN5A | c.1298G>T (p.Arg433Leu) c.1169G>T (p.Arg390Leu) | gnomAD v4 |
3 | g.38605991C= | CA1358585932 | SCN5A | c.1298G= (p.Arg433=) c.1169G= (p.Arg390=) | |
3 | g.38605991C>G | CA352148460 | SCN5A | c.1298G>C (p.Arg433Pro) c.1169G>C (p.Arg390Pro) | |
3 | g.38605991C>T | CA72940330 | SCN5A | c.1298G>A (p.Arg433His) c.1169G>A (p.Arg390His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38605992G>A | CA057469 | SCN5A | c.1297C>T (p.Arg433Cys) c.1168C>T (p.Arg390Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38605992G>C | CA352148463 | SCN5A | c.1297C>G (p.Arg433Gly) c.1168C>G (p.Arg390Gly) | |
3 | g.38605992G= | CA1358585933 | SCN5A | c.1297C= (p.Arg433=) c.1168C= (p.Arg390=) | |
3 | g.38605992G>T | CA057456 | SCN5A | c.1297C>A (p.Arg433Ser) c.1168C>A (p.Arg390Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38605993C>A | CA352148467 | SCN5A | c.1296G>T (p.Lys432Asn) c.1167G>T (p.Lys389Asn) | |
3 | g.38605993C= | CA1358585934 | SCN5A | c.1296G= (p.Lys432=) c.1167G= (p.Lys389=) | |
3 | g.38605993C>G | CA352148469 | SCN5A | c.1296G>C (p.Lys432Asn) c.1167G>C (p.Lys389Asn) | |
3 | g.38605993C>T | CA433137540 | SCN5A | c.1296G>A (p.Lys432=) c.1167G>A (p.Lys389=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38605994T>A | CA352148471 | SCN5A | c.1295A>T (p.Lys432Met) c.1166A>T (p.Lys389Met) | |
3 | g.38605994T>C | CA352148472 | SCN5A | c.1295A>G (p.Lys432Arg) c.1166A>G (p.Lys389Arg) | dbSNP |
3 | g.38605994T>G | CA352148473 | SCN5A | c.1295A>C (p.Lys432Thr) c.1166A>C (p.Lys389Thr) | |
3 | g.38605995T>A | CA352148477 | SCN5A | c.1294A>T (p.Lys432Ter) c.1165A>T (p.Lys389Ter) | dbSNP |
3 | g.38605995T>C | CA352148478 | SCN5A | c.1294A>G (p.Lys432Glu) c.1165A>G (p.Lys389Glu) | |
3 | g.38605995T>G | CA352148480 | SCN5A | c.1294A>C (p.Lys432Gln) c.1165A>C (p.Lys389Gln) | |
3 | g.38605995T= | CA1358585935 | SCN5A | c.1294A= (p.Lys432=) c.1165A= (p.Lys389=) | |
3 | g.38605996T>A | CA352148483 | SCN5A | c.1293A>T (p.Glu431Asp) c.1164A>T (p.Glu388Asp) | |
3 | g.38605996T>C | CA433137545 | SCN5A | c.1293A>G (p.Glu431=) c.1164A>G (p.Glu388=) | |
3 | g.38605996T>G | CA352148484 | SCN5A | c.1293A>C (p.Glu431Asp) c.1164A>C (p.Glu388Asp) | |
3 | g.38605997T>A | CA352148488 | SCN5A | c.1292A>T (p.Glu431Val) c.1163A>T (p.Glu388Val) | |
3 | g.38605997T>C | CA352148492 | SCN5A | c.1292A>G (p.Glu431Gly) c.1163A>G (p.Glu388Gly) | |
3 | g.38605997T>G | CA352148490 | SCN5A | c.1292A>C (p.Glu431Ala) c.1163A>C (p.Glu388Ala) | |
3 | g.38605998C>A | CA352148493 | SCN5A | c.1291G>T (p.Glu431Ter) c.1162G>T (p.Glu388Ter) | dbSNP |
3 | g.38605998C= | CA1358585936 | SCN5A | c.1291G= (p.Glu431=) c.1162G= (p.Glu388=) | |
3 | g.38605998C>G | CA352148495 | SCN5A | c.1291G>C (p.Glu431Gln) c.1162G>C (p.Glu388Gln) | |
3 | g.38605998C>T | CA352148498 | SCN5A | c.1291G>A (p.Glu431Lys) c.1162G>A (p.Glu388Lys) | |
3 | g.38605999C>A | CA352148501 | SCN5A | c.1290G>T (p.Lys430Asn) c.1161G>T (p.Lys387Asn) | |
3 | g.38605999C>G | CA352148502 | SCN5A | c.1290G>C (p.Lys430Asn) c.1161G>C (p.Lys387Asn) | |
3 | g.38605999C>T | CA433137547 | SCN5A | c.1290G>A (p.Lys430=) c.1161G>A (p.Lys387=) | |
3 | g.38606000T>A | CA352148504 | SCN5A | c.1289A>T (p.Lys430Met) c.1160A>T (p.Lys387Met) | |
3 | g.38606000T>C | CA352148506 | SCN5A | c.1289A>G (p.Lys430Arg) c.1160A>G (p.Lys387Arg) | |
3 | g.38606000T>G | CA352148508 | SCN5A | c.1289A>C (p.Lys430Thr) c.1160A>C (p.Lys387Thr) | |
3 | g.38606001T>A | CA352148510 | SCN5A | c.1288A>T (p.Lys430Ter) c.1159A>T (p.Lys387Ter) | dbSNP |
3 | g.38606001T>C | CA352148512 | SCN5A | c.1288A>G (p.Lys430Glu) c.1159A>G (p.Lys387Glu) | |
3 | g.38606001T>G | CA352148514 | SCN5A | c.1288A>C (p.Lys430Gln) c.1159A>C (p.Lys387Gln) | |
3 | g.38606001T= | CA1358585938 | SCN5A | c.1288A= (p.Lys430=) c.1159A= (p.Lys387=) | |
3 | g.38606001_38606004delinsTCTC | CA1358585937 | SCN5A | c.1285_1288delinsGAGA (p.Glu429=) c.1156_1159delinsGAGA (p.Glu386=) | |
3 | g.38606002C>A | CA352148519 | SCN5A | c.1287G>T (p.Glu429Asp) c.1158G>T (p.Glu386Asp) | ClinVar dbSNP |
3 | g.38606002C= | CA1358585939 | SCN5A | c.1287G= (p.Glu429=) c.1158G= (p.Glu386=) | |
3 | g.38606002C>G | CA352148521 | SCN5A | c.1287G>C (p.Glu429Asp) c.1158G>C (p.Glu386Asp) | |
3 | g.38606002C>T | CA057438 | SCN5A | c.1287G>A (p.Glu429=) c.1158G>A (p.Glu386=) | ClinVar dbSNP ExAC gnomAD v2 |
3 | g.38606005_38606007del | CA057434 | SCN5A | c.1285_1287del (p.Glu429del) c.1156_1158del (p.Glu386del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.38606003T>A | CA352148525 | SCN5A | c.1286A>T (p.Glu429Val) c.1157A>T (p.Glu386Val) |