Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.53702698G>A | CA433829401 | CACNA1D | c.1278G>A (p.Arg426=) c.518G>A c.1350G>A (p.Arg450=) c.1251G>A (p.Arg417=) c.335G>A c.297G>A (p.Arg99=) c.1389G>A (p.Arg463=) c.852G>A (p.Arg284=) c.477G>A (p.Arg159=) | |
3 | g.53702698G>C | CA433829402 | CACNA1D | c.1278G>C (p.Arg426=) c.518G>C c.1350G>C (p.Arg450=) c.1251G>C (p.Arg417=) c.335G>C c.297G>C (p.Arg99=) c.1389G>C (p.Arg463=) c.852G>C (p.Arg284=) c.477G>C (p.Arg159=) | |
3 | g.53702698G= | CA1365440066 | CACNA1D | c.1278G= (p.Arg426=) c.518G= c.1350G= (p.Arg450=) c.1251G= (p.Arg417=) c.335G= c.297G= (p.Arg99=) c.1389G= (p.Arg463=) c.852G= (p.Arg284=) c.477G= (p.Arg159=) | |
3 | g.53702698G>T | CA433829403 | CACNA1D | c.1278G>T (p.Arg426=) c.518G>T c.1350G>T (p.Arg450=) c.1251G>T (p.Arg417=) c.335G>T c.297G>T (p.Arg99=) c.1389G>T (p.Arg463=) c.852G>T (p.Arg284=) c.477G>T (p.Arg159=) | dbSNP |
3 | g.53702699G>A | CA353384366 | CACNA1D | c.1279G>A (p.Glu427Lys) c.519G>A c.1351G>A (p.Glu451Lys) c.1252G>A (p.Glu418Lys) c.336G>A c.298G>A (p.Glu100Lys) c.1390G>A (p.Glu464Lys) c.853G>A (p.Glu285Lys) c.478G>A (p.Glu160Lys) | |
3 | g.53702699G>C | CA353384364 | CACNA1D | c.1279G>C (p.Glu427Gln) c.519G>C c.1351G>C (p.Glu451Gln) c.1252G>C (p.Glu418Gln) c.336G>C c.298G>C (p.Glu100Gln) c.1390G>C (p.Glu464Gln) c.853G>C (p.Glu285Gln) c.478G>C (p.Glu160Gln) | |
3 | g.53702699G>T | CA353384365 | CACNA1D | c.1279G>T (p.Glu427Ter) c.519G>T c.1351G>T (p.Glu451Ter) c.1252G>T (p.Glu418Ter) c.336G>T c.298G>T (p.Glu100Ter) c.1390G>T (p.Glu464Ter) c.853G>T (p.Glu285Ter) c.478G>T (p.Glu160Ter) | |
3 | g.53702700A>C | CA353384367 | CACNA1D | c.1280A>C (p.Glu427Ala) c.520A>C c.1352A>C (p.Glu451Ala) c.1253A>C (p.Glu418Ala) c.337A>C c.299A>C (p.Glu100Ala) c.1391A>C (p.Glu464Ala) c.854A>C (p.Glu285Ala) c.479A>C (p.Glu160Ala) | |
3 | g.53702700A>G | CA353384368 | CACNA1D | c.1280A>G (p.Glu427Gly) c.520A>G c.1352A>G (p.Glu451Gly) c.1253A>G (p.Glu418Gly) c.337A>G c.299A>G (p.Glu100Gly) c.1391A>G (p.Glu464Gly) c.854A>G (p.Glu285Gly) c.479A>G (p.Glu160Gly) | |
3 | g.53702700A>T | CA353384369 | CACNA1D | c.1280A>T (p.Glu427Val) c.520A>T c.1352A>T (p.Glu451Val) c.1253A>T (p.Glu418Val) c.337A>T c.299A>T (p.Glu100Val) c.1391A>T (p.Glu464Val) c.854A>T (p.Glu285Val) c.479A>T (p.Glu160Val) | |
3 | g.53702701G>A | CA433829404 | CACNA1D | c.1281G>A (p.Glu427=) c.521G>A c.1353G>A (p.Glu451=) c.1254G>A (p.Glu418=) c.338G>A c.300G>A (p.Glu100=) c.1392G>A (p.Glu464=) c.855G>A (p.Glu285=) c.480G>A (p.Glu160=) | |
3 | g.53702701G>C | CA353384370 | CACNA1D | c.1281G>C (p.Glu427Asp) c.521G>C c.1353G>C (p.Glu451Asp) c.1254G>C (p.Glu418Asp) c.338G>C c.300G>C (p.Glu100Asp) c.1392G>C (p.Glu464Asp) c.855G>C (p.Glu285Asp) c.480G>C (p.Glu160Asp) | |
3 | g.53702701G>T | CA353384371 | CACNA1D | c.1281G>T (p.Glu427Asp) c.521G>T c.1353G>T (p.Glu451Asp) c.1254G>T (p.Glu418Asp) c.338G>T c.300G>T (p.Glu100Asp) c.1392G>T (p.Glu464Asp) c.855G>T (p.Glu285Asp) c.480G>T (p.Glu160Asp) | |
3 | g.53702702A= | CA1365440067 | CACNA1D | c.1282A= (p.Lys428=) c.522A= c.1354A= (p.Lys452=) c.1255A= (p.Lys419=) c.339A= c.301A= (p.Lys101=) c.1393A= (p.Lys465=) c.856A= (p.Lys286=) c.481A= (p.Lys161=) | |
3 | g.53702702A>C | CA353384374 | CACNA1D | c.1282A>C (p.Lys428Gln) c.522A>C c.1354A>C (p.Lys452Gln) c.1255A>C (p.Lys419Gln) c.339A>C c.301A>C (p.Lys101Gln) c.1393A>C (p.Lys465Gln) c.856A>C (p.Lys286Gln) c.481A>C (p.Lys161Gln) | |
3 | g.53702702A>G | CA353384373 | CACNA1D | c.1282A>G (p.Lys428Glu) c.522A>G c.1354A>G (p.Lys452Glu) c.1255A>G (p.Lys419Glu) c.339A>G c.301A>G (p.Lys101Glu) c.1393A>G (p.Lys465Glu) c.856A>G (p.Lys286Glu) c.481A>G (p.Lys161Glu) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53702702A>T | CA353384372 | CACNA1D | c.1282A>T (p.Lys428Ter) c.522A>T c.1354A>T (p.Lys452Ter) c.1255A>T (p.Lys419Ter) c.339A>T c.301A>T (p.Lys101Ter) c.1393A>T (p.Lys465Ter) c.856A>T (p.Lys286Ter) c.481A>T (p.Lys161Ter) | |
3 | g.53702703A>C | CA353384375 | CACNA1D | c.1283A>C (p.Lys428Thr) c.523A>C c.1355A>C (p.Lys452Thr) c.1256A>C (p.Lys419Thr) c.340A>C c.302A>C (p.Lys101Thr) c.1394A>C (p.Lys465Thr) c.857A>C (p.Lys286Thr) c.482A>C (p.Lys161Thr) | |
3 | g.53702703A>G | CA353384376 | CACNA1D | c.1283A>G (p.Lys428Arg) c.523A>G c.1355A>G (p.Lys452Arg) c.1256A>G (p.Lys419Arg) c.340A>G c.302A>G (p.Lys101Arg) c.1394A>G (p.Lys465Arg) c.857A>G (p.Lys286Arg) c.482A>G (p.Lys161Arg) | |
3 | g.53702703A>T | CA353384377 | CACNA1D | c.1283A>T (p.Lys428Met) c.523A>T c.1355A>T (p.Lys452Met) c.1256A>T (p.Lys419Met) c.340A>T c.302A>T (p.Lys101Met) c.1394A>T (p.Lys465Met) c.857A>T (p.Lys286Met) c.482A>T (p.Lys161Met) | |
3 | g.53702704G>A | CA433829405 | CACNA1D | c.1284G>A (p.Lys428=) c.524G>A c.1356G>A (p.Lys452=) c.1257G>A (p.Lys419=) c.341G>A c.303G>A (p.Lys101=) c.1395G>A (p.Lys465=) c.858G>A (p.Lys286=) c.483G>A (p.Lys161=) | |
3 | g.53702704G>C | CA353384378 | CACNA1D | c.1284G>C (p.Lys428Asn) c.524G>C c.1356G>C (p.Lys452Asn) c.1257G>C (p.Lys419Asn) c.341G>C c.303G>C (p.Lys101Asn) c.1395G>C (p.Lys465Asn) c.858G>C (p.Lys286Asn) c.483G>C (p.Lys161Asn) | |
3 | g.53702704G>T | CA353384379 | CACNA1D | c.1284G>T (p.Lys428Asn) c.524G>T c.1356G>T (p.Lys452Asn) c.1257G>T (p.Lys419Asn) c.341G>T c.303G>T (p.Lys101Asn) c.1395G>T (p.Lys465Asn) c.858G>T (p.Lys286Asn) c.483G>T (p.Lys161Asn) | |
3 | g.53702705C>A | CA353384380 | CACNA1D | c.1285C>A (p.Gln429Lys) c.525C>A c.1357C>A (p.Gln453Lys) c.1258C>A (p.Gln420Lys) c.342C>A c.304C>A (p.Gln102Lys) c.1396C>A (p.Gln466Lys) c.859C>A (p.Gln287Lys) c.484C>A (p.Gln162Lys) | |
3 | g.53702705C>G | CA353384381 | CACNA1D | c.1285C>G (p.Gln429Glu) c.525C>G c.1357C>G (p.Gln453Glu) c.1258C>G (p.Gln420Glu) c.342C>G c.304C>G (p.Gln102Glu) c.1396C>G (p.Gln466Glu) c.859C>G (p.Gln287Glu) c.484C>G (p.Gln162Glu) | |
3 | g.53702705C>T | CA353384382 | CACNA1D | c.1285C>T (p.Gln429Ter) c.525C>T c.1357C>T (p.Gln453Ter) c.1258C>T (p.Gln420Ter) c.342C>T c.304C>T (p.Gln102Ter) c.1396C>T (p.Gln466Ter) c.859C>T (p.Gln287Ter) c.484C>T (p.Gln162Ter) | |
3 | g.53702706A>C | CA353384383 | CACNA1D | c.1286A>C (p.Gln429Pro) c.526A>C c.1358A>C (p.Gln453Pro) c.1259A>C (p.Gln420Pro) c.343A>C c.305A>C (p.Gln102Pro) c.1397A>C (p.Gln466Pro) c.860A>C (p.Gln287Pro) c.485A>C (p.Gln162Pro) | |
3 | g.53702706A>G | CA353384384 | CACNA1D | c.1286A>G (p.Gln429Arg) c.526A>G c.1358A>G (p.Gln453Arg) c.1259A>G (p.Gln420Arg) c.343A>G c.305A>G (p.Gln102Arg) c.1397A>G (p.Gln466Arg) c.860A>G (p.Gln287Arg) c.485A>G (p.Gln162Arg) | |
3 | g.53702706A>T | CA353384385 | CACNA1D | c.1286A>T (p.Gln429Leu) c.526A>T c.1358A>T (p.Gln453Leu) c.1259A>T (p.Gln420Leu) c.343A>T c.305A>T (p.Gln102Leu) c.1397A>T (p.Gln466Leu) c.860A>T (p.Gln287Leu) c.485A>T (p.Gln162Leu) | |
3 | g.53702707G>A | CA433829406 | CACNA1D | c.1287G>A (p.Gln429=) c.527G>A c.1359G>A (p.Gln453=) c.1260G>A (p.Gln420=) c.344G>A c.306G>A (p.Gln102=) c.1398G>A (p.Gln466=) c.861G>A (p.Gln287=) c.486G>A (p.Gln162=) | COSMIC COSMIC |
3 | g.53702707G>C | CA353384386 | CACNA1D | c.1287G>C (p.Gln429His) c.527G>C c.1359G>C (p.Gln453His) c.1260G>C (p.Gln420His) c.344G>C c.306G>C (p.Gln102His) c.1398G>C (p.Gln466His) c.861G>C (p.Gln287His) c.486G>C (p.Gln162His) | |
3 | g.53702707G>T | CA353384387 | CACNA1D | c.1287G>T (p.Gln429His) c.527G>T c.1359G>T (p.Gln453His) c.1260G>T (p.Gln420His) c.344G>T c.306G>T (p.Gln102His) c.1398G>T (p.Gln466His) c.861G>T (p.Gln287His) c.486G>T (p.Gln162His) | |
3 | g.53702708C>A | CA353384389 | CACNA1D | c.1288C>A (p.Gln430Lys) c.528C>A c.1360C>A (p.Gln454Lys) c.1261C>A (p.Gln421Lys) c.345C>A c.307C>A (p.Gln103Lys) c.1399C>A (p.Gln467Lys) c.862C>A (p.Gln288Lys) c.487C>A (p.Gln163Lys) | |
3 | g.53702708C>G | CA353384390 | CACNA1D | c.1288C>G (p.Gln430Glu) c.528C>G c.1360C>G (p.Gln454Glu) c.1261C>G (p.Gln421Glu) c.345C>G c.307C>G (p.Gln103Glu) c.1399C>G (p.Gln467Glu) c.862C>G (p.Gln288Glu) c.487C>G (p.Gln163Glu) | |
3 | g.53702708C>T | CA353384388 | CACNA1D | c.1288C>T (p.Gln430Ter) c.528C>T c.1360C>T (p.Gln454Ter) c.1261C>T (p.Gln421Ter) c.345C>T c.307C>T (p.Gln103Ter) c.1399C>T (p.Gln467Ter) c.862C>T (p.Gln288Ter) c.487C>T (p.Gln163Ter) | |
3 | g.53702709A>C | CA353384391 | CACNA1D | c.1289A>C (p.Gln430Pro) c.529A>C c.1361A>C (p.Gln454Pro) c.1262A>C (p.Gln421Pro) c.346A>C c.308A>C (p.Gln103Pro) c.1400A>C (p.Gln467Pro) c.863A>C (p.Gln288Pro) c.488A>C (p.Gln163Pro) | |
3 | g.53702709A>G | CA353384392 | CACNA1D | c.1289A>G (p.Gln430Arg) c.529A>G c.1361A>G (p.Gln454Arg) c.1262A>G (p.Gln421Arg) c.346A>G c.308A>G (p.Gln103Arg) c.1400A>G (p.Gln467Arg) c.863A>G (p.Gln288Arg) c.488A>G (p.Gln163Arg) | |
3 | g.53702709A>T | CA353384393 | CACNA1D | c.1289A>T (p.Gln430Leu) c.529A>T c.1361A>T (p.Gln454Leu) c.1262A>T (p.Gln421Leu) c.346A>T c.308A>T (p.Gln103Leu) c.1400A>T (p.Gln467Leu) c.863A>T (p.Gln288Leu) c.488A>T (p.Gln163Leu) | |
3 | g.53702710G>A | CA433829407 | CACNA1D | c.1290G>A (p.Gln430=) c.530G>A c.1362G>A (p.Gln454=) c.1263G>A (p.Gln421=) c.347G>A c.309G>A (p.Gln103=) c.1401G>A (p.Gln467=) c.864G>A (p.Gln288=) c.489G>A (p.Gln163=) | |
3 | g.53702710G>C | CA353384394 | CACNA1D | c.1290G>C (p.Gln430His) c.530G>C c.1362G>C (p.Gln454His) c.1263G>C (p.Gln421His) c.347G>C c.309G>C (p.Gln103His) c.1401G>C (p.Gln467His) c.864G>C (p.Gln288His) c.489G>C (p.Gln163His) | |
3 | g.53702710G>T | CA353384395 | CACNA1D | c.1290G>T (p.Gln430His) c.530G>T c.1362G>T (p.Gln454His) c.1263G>T (p.Gln421His) c.347G>T c.309G>T (p.Gln103His) c.1401G>T (p.Gln467His) c.864G>T (p.Gln288His) c.489G>T (p.Gln163His) | |
3 | g.53702711C>A | CA353384397 | CACNA1D | c.1291C>A (p.Leu431Met) c.531C>A c.1363C>A (p.Leu455Met) c.1264C>A (p.Leu422Met) c.348C>A c.310C>A (p.Leu104Met) c.1402C>A (p.Leu468Met) c.865C>A (p.Leu289Met) c.490C>A (p.Leu164Met) | |
3 | g.53702711C>G | CA353384396 | CACNA1D | c.1291C>G (p.Leu431Val) c.531C>G c.1363C>G (p.Leu455Val) c.1264C>G (p.Leu422Val) c.348C>G c.310C>G (p.Leu104Val) c.1402C>G (p.Leu468Val) c.865C>G (p.Leu289Val) c.490C>G (p.Leu164Val) | |
3 | g.53702711C>T | CA433829408 | CACNA1D | c.1291C>T (p.Leu431=) c.531C>T c.1363C>T (p.Leu455=) c.1264C>T (p.Leu422=) c.348C>T c.310C>T (p.Leu104=) c.1402C>T (p.Leu468=) c.865C>T (p.Leu289=) c.490C>T (p.Leu164=) | |
3 | g.53702712T>A | CA353384398 | CACNA1D | c.1292T>A (p.Leu431Gln) c.532T>A c.1364T>A (p.Leu455Gln) c.1265T>A (p.Leu422Gln) c.349T>A c.311T>A (p.Leu104Gln) c.1403T>A (p.Leu468Gln) c.866T>A (p.Leu289Gln) c.491T>A (p.Leu164Gln) | |
3 | g.53702712T>C | CA353384399 | CACNA1D | c.1292T>C (p.Leu431Pro) c.532T>C c.1364T>C (p.Leu455Pro) c.1265T>C (p.Leu422Pro) c.349T>C c.311T>C (p.Leu104Pro) c.1403T>C (p.Leu468Pro) c.866T>C (p.Leu289Pro) c.491T>C (p.Leu164Pro) | |
3 | g.53702712T>G | CA353384400 | CACNA1D | c.1292T>G (p.Leu431Arg) c.532T>G c.1364T>G (p.Leu455Arg) c.1265T>G (p.Leu422Arg) c.349T>G c.311T>G (p.Leu104Arg) c.1403T>G (p.Leu468Arg) c.866T>G (p.Leu289Arg) c.491T>G (p.Leu164Arg) | |
3 | g.53702713G>A | CA433829409 | CACNA1D | c.1293G>A (p.Leu431=) c.533G>A c.1365G>A (p.Leu455=) c.1266G>A (p.Leu422=) c.350G>A c.312G>A (p.Leu104=) c.1404G>A (p.Leu468=) c.867G>A (p.Leu289=) c.492G>A (p.Leu164=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.53702713G>C | CA75076520 | CACNA1D | c.1293G>C (p.Leu431=) c.533G>C c.1365G>C (p.Leu455=) c.1266G>C (p.Leu422=) c.350G>C c.312G>C (p.Leu104=) c.1404G>C (p.Leu468=) c.867G>C (p.Leu289=) c.492G>C (p.Leu164=) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.53702713G= | CA1365440068 | CACNA1D | c.1293G= (p.Leu431=) c.533G= c.1365G= (p.Leu455=) c.1266G= (p.Leu422=) c.350G= c.312G= (p.Leu104=) c.1404G= (p.Leu468=) c.867G= (p.Leu289=) c.492G= (p.Leu164=) |