Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.38605964T>A | CA352148345 | SCN5A | c.1325A>T (p.Lys442Met) c.1196A>T (p.Lys399Met) | |
3 | g.38605964T>C | CA352148346 | SCN5A | c.1325A>G (p.Lys442Arg) c.1196A>G (p.Lys399Arg) | |
3 | g.38605964T>G | CA352148348 | SCN5A | c.1325A>C (p.Lys442Thr) c.1196A>C (p.Lys399Thr) | |
3 | g.38605965T>A | CA352148350 | SCN5A | c.1324A>T (p.Lys442Ter) c.1195A>T (p.Lys399Ter) | dbSNP |
3 | g.38605965T>C | CA352148352 | SCN5A | c.1324A>G (p.Lys442Glu) c.1195A>G (p.Lys399Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
3 | g.38605965T>G | CA352148353 | SCN5A | c.1324A>C (p.Lys442Gln) c.1195A>C (p.Lys399Gln) | gnomAD v4 |
3 | g.38605965T= | CA1358585916 | SCN5A | c.1324A= (p.Lys442=) c.1195A= (p.Lys399=) | |
3 | g.38605966G>A | CA433137513 | SCN5A | c.1323C>T (p.Leu441=) c.1194C>T (p.Leu398=) | ClinVar dbSNP |
3 | g.38605966G>C | CA433137514 | SCN5A | c.1323C>G (p.Leu441=) c.1194C>G (p.Leu398=) | ClinVar dbSNP |
3 | g.38605966G>T | CA433137515 | SCN5A | c.1323C>A (p.Leu441=) c.1194C>A (p.Leu398=) | |
3 | g.38605967A= | CA1358585917 | SCN5A | c.1322T= (p.Leu441=) c.1193T= (p.Leu398=) | |
3 | g.38605967A>C | CA057525 | SCN5A | c.1322T>G (p.Leu441Arg) c.1193T>G (p.Leu398Arg) | dbSNP ExAC |
3 | g.38605967A>G | CA352148356 | SCN5A | c.1322T>C (p.Leu441Pro) c.1193T>C (p.Leu398Pro) | gnomAD v4 |
3 | g.38605967A>T | CA352148358 | SCN5A | c.1322T>A (p.Leu441His) c.1193T>A (p.Leu398His) | |
3 | g.38605968G>A | CA057516 | SCN5A | c.1321C>T (p.Leu441Phe) c.1192C>T (p.Leu398Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC COSMIC |
3 | g.38605968G>C | CA352148360 | SCN5A | c.1321C>G (p.Leu441Val) c.1192C>G (p.Leu398Val) | |
3 | g.38605968G= | CA1358585918 | SCN5A | c.1321C= (p.Leu441=) c.1192C= (p.Leu398=) | |
3 | g.38605968G>T | CA352148359 | SCN5A | c.1321C>A (p.Leu441Ile) c.1192C>A (p.Leu398Ile) | |
3 | g.38605969C>A | CA352148362 | SCN5A | c.1320G>T (p.Met440Ile) c.1191G>T (p.Met397Ile) | |
3 | g.38605969C>G | CA352148363 | SCN5A | c.1320G>C (p.Met440Ile) c.1191G>C (p.Met397Ile) | |
3 | g.38605969C>T | CA352148364 | SCN5A | c.1320G>A (p.Met440Ile) c.1191G>A (p.Met397Ile) | dbSNP gnomAD v4 |
3 | g.38605970A>C | CA352148365 | SCN5A | c.1319T>G (p.Met440Arg) c.1190T>G (p.Met397Arg) | |
3 | g.38605970A>G | CA352148367 | SCN5A | c.1319T>C (p.Met440Thr) c.1190T>C (p.Met397Thr) | |
3 | g.38605970A>T | CA352148368 | SCN5A | c.1319T>A (p.Met440Lys) c.1190T>A (p.Met397Lys) | |
3 | g.38605971T>A | CA352148369 | SCN5A | c.1318A>T (p.Met440Leu) c.1189A>T (p.Met397Leu) | |
3 | g.38605971T>C | CA352148370 | SCN5A | c.1318A>G (p.Met440Val) c.1189A>G (p.Met397Val) | |
3 | g.38605971T>G | CA352148371 | SCN5A | c.1318A>C (p.Met440Leu) c.1189A>C (p.Met397Leu) | |
3 | g.38605972T>A | CA352148372 | SCN5A | c.1317A>T (p.Glu439Asp) c.1188A>T (p.Glu396Asp) | |
3 | g.38605972T>C | CA433137522 | SCN5A | c.1317A>G (p.Glu439=) c.1188A>G (p.Glu396=) | |
3 | g.38605972T>G | CA352148373 | SCN5A | c.1317A>C (p.Glu439Asp) c.1188A>C (p.Glu396Asp) | |
3 | g.38605973T>A | CA352148385 | SCN5A | c.1316A>T (p.Glu439Val) c.1187A>T (p.Glu396Val) | dbSNP gnomAD v4 |
3 | g.38605973T>C | CA352148376 | SCN5A | c.1316A>G (p.Glu439Gly) c.1187A>G (p.Glu396Gly) | |
3 | g.38605973T>G | CA352148374 | SCN5A | c.1316A>C (p.Glu439Ala) c.1187A>C (p.Glu396Ala) | |
3 | g.38605973T= | CA1358585919 | SCN5A | c.1316A= (p.Glu439=) c.1187A= (p.Glu396=) | |
3 | g.38605974C>A | CA352148386 | SCN5A | c.1315G>T (p.Glu439Ter) c.1186G>T (p.Glu396Ter) | dbSNP COSMIC COSMIC COSMIC |
3 | g.38605974C= | CA1358585920 | SCN5A | c.1315G= (p.Glu439=) c.1186G= (p.Glu396=) | |
3 | g.38605974C>G | CA352148388 | SCN5A | c.1315G>C (p.Glu439Gln) c.1186G>C (p.Glu396Gln) | |
3 | g.38605974C>T | CA014686 | SCN5A | c.1315G>A (p.Glu439Lys) c.1186G>A (p.Glu396Lys) | ClinVar dbSNP |
3 | g.38605975C>A | CA352148390 | SCN5A | c.1314G>T (p.Met438Ile) c.1185G>T (p.Met395Ile) | |
3 | g.38605975C>G | CA352148393 | SCN5A | c.1314G>C (p.Met438Ile) c.1185G>C (p.Met395Ile) | |
3 | g.38605975C>T | CA352148395 | SCN5A | c.1314G>A (p.Met438Ile) c.1185G>A (p.Met395Ile) | COSMIC COSMIC COSMIC |
3 | g.38605976A= | CA1358585921 | SCN5A | c.1313T= (p.Met438=) c.1184T= (p.Met395=) | |
3 | g.38605976A>C | CA352148396 | SCN5A | c.1313T>G (p.Met438Arg) c.1184T>G (p.Met395Arg) | |
3 | g.38605976A>G | CA72940306 | SCN5A | c.1313T>C (p.Met438Thr) c.1184T>C (p.Met395Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.38605976A>T | CA352148398 | SCN5A | c.1313T>A (p.Met438Lys) c.1184T>A (p.Met395Lys) | |
3 | g.38605977T>A | CA352148400 | SCN5A | c.1312A>T (p.Met438Leu) c.1183A>T (p.Met395Leu) | gnomAD v4 |
3 | g.38605977T>C | CA72940309 | SCN5A | c.1312A>G (p.Met438Val) c.1183A>G (p.Met395Val) | ClinVar dbSNP |
3 | g.38605977T>G | CA352148403 | SCN5A | c.1312A>C (p.Met438Leu) c.1183A>C (p.Met395Leu) | |
3 | g.38605977T= | CA1358585922 | SCN5A | c.1312A= (p.Met438=) c.1183A= (p.Met395=) | |
3 | g.38605980_38605987del | CA2580069739 | SCN5A | c.1305_1312del (p.Gln435HisfsTer22) c.1176_1183del (p.Gln392HisfsTer22) | ClinVar |