| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185911A= | CA2035023133 | TUBA1A | c.455T= (p.Leu152=) c.350T= (p.Leu117=) n.1488T= c.478T= (p.Cys160=) c.607T= (p.Cys203=) | |
| 12 | g.49185911A>C | CA384642499 | TUBA1A | c.455T>G (p.Leu152Arg) c.350T>G (p.Leu117Arg) n.1488T>G c.478T>G (p.Cys160Gly) c.607T>G (p.Cys203Gly) | |
| 12 | g.49185911A>G | CA384642501 | TUBA1A | c.455T>C (p.Leu152Pro) c.350T>C (p.Leu117Pro) n.1488T>C c.478T>C (p.Cys160Arg) c.607T>C (p.Cys203Arg) | |
| 12 | g.49185911A>T | CA16606634 | TUBA1A | c.455T>A (p.Leu152Gln) c.350T>A (p.Leu117Gln) n.1488T>A c.478T>A (p.Cys160Ser) c.607T>A (p.Cys203Ser) | ClinVar dbSNP |
| 12 | g.49185912G>A | CA479717458 | TUBA1A | c.454C>T (p.Leu152=) c.349C>T (p.Leu117=) n.1487C>T c.477C>T (p.Arg159=) c.606C>T (p.Arg202=) | |
| 12 | g.49185912G>C | CA384642505 | TUBA1A | c.454C>G (p.Leu152Val) c.349C>G (p.Leu117Val) n.1487C>G c.477C>G (p.Arg159=) c.606C>G (p.Arg202=) | |
| 12 | g.49185912G>T | CA384642510 | TUBA1A | c.454C>A (p.Leu152Met) c.349C>A (p.Leu117Met) n.1487C>A c.477C>A (p.Arg159=) c.606C>A (p.Arg202=) | |
| 12 | g.49185913C>A | CA384642515 | TUBA1A | c.453G>T (p.Ser151=) c.348G>T (p.Ser116=) n.1486G>T c.476G>T (p.Arg159Leu) c.605G>T (p.Arg202Leu) | |
| 12 | g.49185913C= | CA2035023146 | TUBA1A | c.453G= (p.Ser151=) c.348G= (p.Ser116=) n.1486G= c.476G= (p.Arg159=) c.605G= (p.Arg202=) | |
| 12 | g.49185913C>G | CA173756 | TUBA1A | c.453G>C (p.Ser151=) c.348G>C (p.Ser116=) n.1486G>C c.476G>C (p.Arg159Pro) c.605G>C (p.Arg202Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185913C>T | CA6550247 | TUBA1A | c.453G>A (p.Ser151=) c.348G>A (p.Ser116=) n.1486G>A c.476G>A (p.Arg159His) c.605G>A (p.Arg202His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185914G>A | CA384642517 | TUBA1A | c.452C>T (p.Ser151Leu) c.347C>T (p.Ser116Leu) n.1485C>T c.475C>T (p.Arg159Cys) c.604C>T (p.Arg202Cys) | |
| 12 | g.49185914G>C | CA384642520 | TUBA1A | c.452C>G (p.Ser151Trp) c.347C>G (p.Ser116Trp) n.1485C>G c.475C>G (p.Arg159Gly) c.604C>G (p.Arg202Gly) | |
| 12 | g.49185914G>T | CA384642522 | TUBA1A | c.452C>A (p.Ser151Ter) c.347C>A (p.Ser116Ter) n.1485C>A c.475C>A (p.Arg159Ser) c.604C>A (p.Arg202Ser) | |
| 12 | g.49185915A>C | CA384642524 | TUBA1A | c.451T>G (p.Ser151Ala) c.346T>G (p.Ser116Ala) n.1484T>G c.474T>G (p.Pro158=) c.603T>G (p.Pro201=) | |
| 12 | g.49185915A>G | CA384642526 | TUBA1A | c.451T>C (p.Ser151Pro) c.346T>C (p.Ser116Pro) n.1484T>C c.474T>C (p.Pro158=) c.603T>C (p.Pro201=) | |
| 12 | g.49185915A>T | CA384642529 | TUBA1A | c.451T>A (p.Ser151Thr) c.346T>A (p.Ser116Thr) n.1484T>A c.474T>A (p.Pro158=) c.603T>A (p.Pro201=) | |
| 12 | g.49185916G>A | CA384642531 | TUBA1A | c.450C>T (p.Thr150=) c.345C>T (p.Thr115=) n.1483C>T c.473C>T (p.Pro158Leu) c.602C>T (p.Pro201Leu) | gnomAD v4 |
| 12 | g.49185916G>C | CA384642532 | TUBA1A | c.450C>G (p.Thr150=) c.345C>G (p.Thr115=) n.1483C>G c.473C>G (p.Pro158Arg) c.602C>G (p.Pro201Arg) | |
| 12 | g.49185916G>T | CA384642534 | TUBA1A | c.450C>A (p.Thr150=) c.345C>A (p.Thr115=) n.1483C>A c.473C>A (p.Pro158His) c.602C>A (p.Pro201His) | |
| 12 | g.49185917G>A | CA384642536 | TUBA1A | c.449C>T (p.Thr150Ile) c.344C>T (p.Thr115Ile) n.1482C>T c.472C>T (p.Pro158Ser) c.601C>T (p.Pro201Ser) | ClinVar dbSNP |
| 12 | g.49185917G>C | CA384642538 | TUBA1A | c.449C>G (p.Thr150Ser) c.344C>G (p.Thr115Ser) n.1482C>G c.472C>G (p.Pro158Ala) c.601C>G (p.Pro201Ala) | |
| 12 | g.49185917G= | CA2035023152 | TUBA1A | c.449C= (p.Thr150=) c.344C= (p.Thr115=) n.1482C= c.472C= (p.Pro158=) c.601C= (p.Pro201=) | |
| 12 | g.49185917G>T | CA384642540 | TUBA1A | c.449C>A (p.Thr150Asn) c.344C>A (p.Thr115Asn) n.1482C>A c.472C>A (p.Pro158Thr) c.601C>A (p.Pro201Thr) | |
| 12 | g.49185918T>A | CA384642546 | TUBA1A | c.448A>T (p.Thr150Ser) c.343A>T (p.Thr115Ser) n.1481A>T c.471A>T (p.Ser157=) c.600A>T (p.Ser200=) | |
| 12 | g.49185918T>C | CA384642545 | TUBA1A | c.448A>G (p.Thr150Ala) c.343A>G (p.Thr115Ala) n.1481A>G c.471A>G (p.Ser157=) c.600A>G (p.Ser200=) | |
| 12 | g.49185918T>G | CA384642543 | TUBA1A | c.448A>C (p.Thr150Pro) c.343A>C (p.Thr115Pro) n.1481A>C c.471A>C (p.Ser157=) c.600A>C (p.Ser200=) | |
| 12 | g.49185919G>A | CA384642548 | TUBA1A | c.447C>T (p.Phe149=) c.342C>T (p.Phe114=) n.1480C>T c.470C>T (p.Ser157Leu) c.599C>T (p.Ser200Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185919G>C | CA384642551 | TUBA1A | c.447C>G (p.Phe149Leu) c.342C>G (p.Phe114Leu) n.1480C>G c.470C>G (p.Ser157Ter) c.599C>G (p.Ser200Ter) | |
| 12 | g.49185919G= | CA2035023157 | TUBA1A | c.447C= (p.Phe149=) c.342C= (p.Phe114=) n.1480C= c.470C= (p.Ser157=) c.599C= (p.Ser200=) | |
| 12 | g.49185919G>T | CA384642549 | TUBA1A | c.447C>A (p.Phe149Leu) c.342C>A (p.Phe114Leu) n.1480C>A c.470C>A (p.Ser157Ter) c.599C>A (p.Ser200Ter) | |
| 12 | g.49185920A>C | CA384642553 | TUBA1A | c.446T>G (p.Phe149Cys) c.341T>G (p.Phe114Cys) n.1479T>G c.469T>G (p.Ser157Ala) c.598T>G (p.Ser200Ala) | |
| 12 | g.49185920A>G | CA384642557 | TUBA1A | c.446T>C (p.Phe149Ser) c.341T>C (p.Phe114Ser) n.1479T>C c.469T>C (p.Ser157Pro) c.598T>C (p.Ser200Pro) | |
| 12 | g.49185920A>T | CA384642555 | TUBA1A | c.446T>A (p.Phe149Tyr) c.341T>A (p.Phe114Tyr) n.1479T>A c.469T>A (p.Ser157Thr) c.598T>A (p.Ser200Thr) | |
| 12 | g.49185921A>C | CA384642559 | TUBA1A | c.445T>G (p.Phe149Val) c.340T>G (p.Phe114Val) n.1478T>G c.468T>G (p.Gly156=) c.597T>G (p.Gly199=) | |
| 12 | g.49185921A>G | CA384642561 | TUBA1A | c.445T>C (p.Phe149Leu) c.340T>C (p.Phe114Leu) n.1478T>C c.468T>C (p.Gly156=) c.597T>C (p.Gly199=) | |
| 12 | g.49185921A>T | CA384642562 | TUBA1A | c.445T>A (p.Phe149Ile) c.340T>A (p.Phe114Ile) n.1478T>A c.468T>A (p.Gly156=) c.597T>A (p.Gly199=) | |
| 12 | g.49185922C>A | CA384642565 | TUBA1A | c.444G>T (p.Gly148=) c.339G>T (p.Gly113=) n.1477G>T c.467G>T (p.Gly156Val) c.596G>T (p.Gly199Val) | |
| 12 | g.49185922C= | CA2035023163 | TUBA1A | c.444G= (p.Gly148=) c.339G= (p.Gly113=) n.1477G= c.467G= (p.Gly156=) c.596G= (p.Gly199=) | |
| 12 | g.49185922C>G | CA384642567 | TUBA1A | c.444G>C (p.Gly148=) c.339G>C (p.Gly113=) n.1477G>C c.467G>C (p.Gly156Ala) c.596G>C (p.Gly199Ala) | |
| 12 | g.49185922C>T | CA384642568 | TUBA1A | c.444G>A (p.Gly148=) c.339G>A (p.Gly113=) n.1477G>A c.467G>A (p.Gly156Asp) c.596G>A (p.Gly199Asp) | dbSNP |
| 12 | g.49185923C>A | CA384642571 | TUBA1A | c.443G>T (p.Gly148Val) c.338G>T (p.Gly113Val) n.1476G>T c.466G>T (p.Gly156Cys) c.595G>T (p.Gly199Cys) | |
| 12 | g.49185923C>G | CA384642573 | TUBA1A | c.443G>C (p.Gly148Ala) c.338G>C (p.Gly113Ala) n.1476G>C c.466G>C (p.Gly156Arg) c.595G>C (p.Gly199Arg) | |
| 12 | g.49185923C>T | CA384642576 | TUBA1A | c.443G>A (p.Gly148Glu) c.338G>A (p.Gly113Glu) n.1476G>A c.466G>A (p.Gly156Ser) c.595G>A (p.Gly199Ser) | |
| 12 | g.49185924C>A | CA384642582 | TUBA1A | c.442G>T (p.Gly148Trp) c.337G>T (p.Gly113Trp) n.1475G>T c.465G>T (p.Leu155=) c.594G>T (p.Leu198=) | |
| 12 | g.49185924C>G | CA384642584 | TUBA1A | c.442G>C (p.Gly148Arg) c.337G>C (p.Gly113Arg) n.1475G>C c.465G>C (p.Leu155=) c.594G>C (p.Leu198=) | |
| 12 | g.49185924C>T | CA384642585 | TUBA1A | c.442G>A (p.Gly148Arg) c.337G>A (p.Gly113Arg) n.1475G>A c.465G>A (p.Leu155=) c.594G>A (p.Leu198=) | ClinVar dbSNP |
| 12 | g.49185925A>C | CA384642588 | TUBA1A | c.441T>G (p.Ser147=) c.336T>G (p.Ser112=) n.1474T>G c.464T>G (p.Leu155Arg) c.593T>G (p.Leu198Arg) | |
| 12 | g.49185925A>G | CA384642592 | TUBA1A | c.441T>C (p.Ser147=) c.336T>C (p.Ser112=) n.1474T>C c.464T>C (p.Leu155Pro) c.593T>C (p.Leu198Pro) | gnomAD v4 |
| 12 | g.49185925A>T | CA384642590 | TUBA1A | c.441T>A (p.Ser147=) c.336T>A (p.Ser112=) n.1474T>A c.464T>A (p.Leu155Gln) c.593T>A (p.Leu198Gln) |