| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185888C>A | CA384642332 | TUBA1A | c.478G>T (p.Asp160Tyr) c.373G>T (p.Asp125Tyr) n.1511G>T c.501G>T (p.Leu167Phe) c.630G>T (p.Leu210Phe) | |
| 12 | g.49185888C>G | CA384642335 | TUBA1A | c.478G>C (p.Asp160His) c.373G>C (p.Asp125His) n.1511G>C c.501G>C (p.Leu167Phe) c.630G>C (p.Leu210Phe) | |
| 12 | g.49185888C>T | CA384642337 | TUBA1A | c.478G>A (p.Asp160Asn) c.373G>A (p.Asp125Asn) n.1511G>A c.501G>A (p.Leu167=) c.630G>A (p.Leu210=) | |
| 12 | g.49185889A>C | CA384642346 | TUBA1A | c.477T>G (p.Val159=) c.372T>G (p.Val124=) n.1510T>G c.500T>G (p.Leu167Trp) c.629T>G (p.Leu210Trp) | |
| 12 | g.49185889A>G | CA384642343 | TUBA1A | c.477T>C (p.Val159=) c.372T>C (p.Val124=) n.1510T>C c.500T>C (p.Leu167Ser) c.629T>C (p.Leu210Ser) | gnomAD v4 |
| 12 | g.49185889A>T | CA384642340 | TUBA1A | c.477T>A (p.Val159=) c.372T>A (p.Val124=) n.1510T>A c.500T>A (p.Leu167Ter) c.629T>A (p.Leu210Ter) | |
| 12 | g.49185890A>C | CA384642350 | TUBA1A | c.476T>G (p.Val159Gly) c.371T>G (p.Val124Gly) n.1509T>G c.499T>G (p.Leu167Val) c.628T>G (p.Leu210Val) | |
| 12 | g.49185890A>G | CA384642353 | TUBA1A | c.476T>C (p.Val159Ala) c.371T>C (p.Val124Ala) n.1509T>C c.499T>C (p.Leu167=) c.628T>C (p.Leu210=) | |
| 12 | g.49185890A>T | CA384642355 | TUBA1A | c.476T>A (p.Val159Asp) c.371T>A (p.Val124Asp) n.1509T>A c.499T>A (p.Leu167Met) c.628T>A (p.Leu210Met) | |
| 12 | g.49185891C>A | CA384642359 | TUBA1A | c.475G>T (p.Val159Phe) c.370G>T (p.Val124Phe) n.1508G>T c.498G>T (p.Gln166His) c.627G>T (p.Gln209His) | |
| 12 | g.49185891C>G | CA384642361 | TUBA1A | c.475G>C (p.Val159Leu) c.370G>C (p.Val124Leu) n.1508G>C c.498G>C (p.Gln166His) c.627G>C (p.Gln209His) | |
| 12 | g.49185891C>T | CA384642363 | TUBA1A | c.475G>A (p.Val159Ile) c.370G>A (p.Val124Ile) n.1508G>A c.498G>A (p.Gln166=) c.627G>A (p.Gln209=) | |
| 12 | g.49185892T>A | CA384642367 | TUBA1A | c.474A>T (p.Ser158=) c.369A>T (p.Ser123=) n.1507A>T c.497A>T (p.Gln166Leu) c.626A>T (p.Gln209Leu) | |
| 12 | g.49185892T>C | CA384642371 | TUBA1A | c.474A>G (p.Ser158=) c.369A>G (p.Ser123=) n.1507A>G c.497A>G (p.Gln166Arg) c.626A>G (p.Gln209Arg) | |
| 12 | g.49185892T>G | CA384642370 | TUBA1A | c.474A>C (p.Ser158=) c.369A>C (p.Ser123=) n.1507A>C c.497A>C (p.Gln166Pro) c.626A>C (p.Gln209Pro) | |
| 12 | g.49185893G>A | CA384642375 | TUBA1A | c.473C>T (p.Ser158Leu) c.368C>T (p.Ser123Leu) n.1506C>T c.496C>T (p.Gln166Ter) c.625C>T (p.Gln209Ter) | ClinVar dbSNP |
| 12 | g.49185893G>C | CA384642378 | TUBA1A | c.473C>G (p.Ser158Ter) c.368C>G (p.Ser123Ter) n.1506C>G c.496C>G (p.Gln166Glu) c.625C>G (p.Gln209Glu) | |
| 12 | g.49185893G= | CA2035023112 | TUBA1A | c.473C= (p.Ser158=) c.368C= (p.Ser123=) n.1506C= c.496C= (p.Gln166=) c.625C= (p.Gln209=) | |
| 12 | g.49185893G>T | CA384642381 | TUBA1A | c.473C>A (p.Ser158Ter) c.368C>A (p.Ser123Ter) n.1506C>A c.496C>A (p.Gln166Lys) c.625C>A (p.Gln209Lys) | |
| 12 | g.49185894A>C | CA384642384 | TUBA1A | c.472T>G (p.Ser158Ala) c.367T>G (p.Ser123Ala) n.1505T>G c.495T>G (p.Ser165=) c.624T>G (p.Ser208=) | |
| 12 | g.49185894A>G | CA384642387 | TUBA1A | c.472T>C (p.Ser158Pro) c.367T>C (p.Ser123Pro) n.1505T>C c.495T>C (p.Ser165=) c.624T>C (p.Ser208=) | |
| 12 | g.49185894A>T | CA384642390 | TUBA1A | c.472T>A (p.Ser158Thr) c.367T>A (p.Ser123Thr) n.1505T>A c.495T>A (p.Ser165=) c.624T>A (p.Ser208=) | |
| 12 | g.49185895G>A | CA6550246 | TUBA1A | c.471C>T (p.Leu157=) c.366C>T (p.Leu122=) n.1504C>T c.494C>T (p.Ser165Phe) c.623C>T (p.Ser208Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185895G>C | CA384642393 | TUBA1A | c.471C>G (p.Leu157=) c.366C>G (p.Leu122=) n.1504C>G c.494C>G (p.Ser165Cys) c.623C>G (p.Ser208Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185895G= | CA2035023117 | TUBA1A | c.471C= (p.Leu157=) c.366C= (p.Leu122=) n.1504C= c.494C= (p.Ser165=) c.623C= (p.Ser208=) | |
| 12 | g.49185895G>T | CA384642394 | TUBA1A | c.471C>A (p.Leu157=) c.366C>A (p.Leu122=) n.1504C>A c.494C>A (p.Ser165Tyr) c.623C>A (p.Ser208Tyr) | |
| 12 | g.49185896A>C | CA384642397 | TUBA1A | c.470T>G (p.Leu157Arg) c.365T>G (p.Leu122Arg) n.1503T>G c.493T>G (p.Ser165Ala) c.622T>G (p.Ser208Ala) | |
| 12 | g.49185896A>G | CA384642398 | TUBA1A | c.470T>C (p.Leu157Pro) c.365T>C (p.Leu122Pro) n.1503T>C c.493T>C (p.Ser165Pro) c.622T>C (p.Ser208Pro) | |
| 12 | g.49185896A>T | CA384642400 | TUBA1A | c.470T>A (p.Leu157His) c.365T>A (p.Leu122His) n.1503T>A c.493T>A (p.Ser165Thr) c.622T>A (p.Ser208Thr) | |
| 12 | g.49185897G>A | CA384642405 | TUBA1A | c.469C>T (p.Leu157Phe) c.364C>T (p.Leu122Phe) n.1502C>T c.492C>T (p.Val164=) c.621C>T (p.Val207=) | |
| 12 | g.49185897G>C | CA384642408 | TUBA1A | c.469C>G (p.Leu157Val) c.364C>G (p.Leu122Val) n.1502C>G c.492C>G (p.Val164=) c.621C>G (p.Val207=) | |
| 12 | g.49185897G>T | CA384642403 | TUBA1A | c.469C>A (p.Leu157Ile) c.364C>A (p.Leu122Ile) n.1502C>A c.492C>A (p.Val164=) c.621C>A (p.Val207=) | |
| 12 | g.49185898A= | CA2035023120 | TUBA1A | c.468T= (p.Arg156=) c.363T= (p.Arg121=) n.1501T= c.491T= (p.Val164=) c.620T= (p.Val207=) | |
| 12 | g.49185898A>C | CA384642412 | TUBA1A | c.468T>G (p.Arg156=) c.363T>G (p.Arg121=) n.1501T>G c.491T>G (p.Val164Gly) c.620T>G (p.Val207Gly) | |
| 12 | g.49185898A>G | CA384642413 | TUBA1A | c.468T>C (p.Arg156=) c.363T>C (p.Arg121=) n.1501T>C c.491T>C (p.Val164Ala) c.620T>C (p.Val207Ala) | |
| 12 | g.49185898A>T | CA384642415 | TUBA1A | c.468T>A (p.Arg156=) c.363T>A (p.Arg121=) n.1501T>A c.491T>A (p.Val164Asp) c.620T>A (p.Val207Asp) | dbSNP gnomAD v4 |
| 12 | g.49185899C>A | CA384642417 | TUBA1A | c.467G>T (p.Arg156Leu) c.362G>T (p.Arg121Leu) n.1500G>T c.490G>T (p.Val164Phe) c.619G>T (p.Val207Phe) | |
| 12 | g.49185899C= | CA2035023124 | TUBA1A | c.467G= (p.Arg156=) c.362G= (p.Arg121=) n.1500G= c.490G= (p.Val164=) c.619G= (p.Val207=) | |
| 12 | g.49185899C>G | CA384642419 | TUBA1A | c.467G>C (p.Arg156Pro) c.362G>C (p.Arg121Pro) n.1500G>C c.490G>C (p.Val164Leu) c.619G>C (p.Val207Leu) | |
| 12 | g.49185899C>T | CA384642420 | TUBA1A | c.467G>A (p.Arg156His) c.362G>A (p.Arg121His) n.1500G>A c.490G>A (p.Val164Ile) c.619G>A (p.Val207Ile) | ClinVar dbSNP COSMIC |
| 12 | g.49185900G>A | CA384642427 | TUBA1A | c.466C>T (p.Arg156Cys) c.361C>T (p.Arg121Cys) n.1499C>T c.489C>T (p.Asn163=) c.618C>T (p.Asn206=) | |
| 12 | g.49185900G>C | CA384642425 | TUBA1A | c.466C>G (p.Arg156Gly) c.361C>G (p.Arg121Gly) n.1499C>G c.489C>G (p.Asn163Lys) c.618C>G (p.Asn206Lys) | |
| 12 | g.49185900G>T | CA384642423 | TUBA1A | c.466C>A (p.Arg156Ser) c.361C>A (p.Arg121Ser) n.1499C>A c.489C>A (p.Asn163Lys) c.618C>A (p.Asn206Lys) | |
| 12 | g.49185901T>A | CA384642430 | TUBA1A | c.465A>T (p.Glu155Asp) c.360A>T (p.Glu120Asp) n.1498A>T c.488A>T (p.Asn163Ile) c.617A>T (p.Asn206Ile) | |
| 12 | g.49185901T>C | CA384642433 | TUBA1A | c.465A>G (p.Glu155=) c.360A>G (p.Glu120=) n.1498A>G c.488A>G (p.Asn163Ser) c.617A>G (p.Asn206Ser) | gnomAD v4 |
| 12 | g.49185901T>G | CA384642435 | TUBA1A | c.465A>C (p.Glu155Asp) c.360A>C (p.Glu120Asp) n.1498A>C c.488A>C (p.Asn163Thr) c.617A>C (p.Asn206Thr) | |
| 12 | g.49185902T>A | CA384642438 | TUBA1A | c.464A>T (p.Glu155Val) c.359A>T (p.Glu120Val) n.1497A>T c.487A>T (p.Asn163Tyr) c.616A>T (p.Asn206Tyr) | |
| 12 | g.49185902T>C | CA384642441 | TUBA1A | c.464A>G (p.Glu155Gly) c.359A>G (p.Glu120Gly) n.1497A>G c.487A>G (p.Asn163Asp) c.616A>G (p.Asn206Asp) | |
| 12 | g.49185902T>G | CA384642444 | TUBA1A | c.464A>C (p.Glu155Ala) c.359A>C (p.Glu120Ala) n.1497A>C c.487A>C (p.Asn163His) c.616A>C (p.Asn206His) | |
| 12 | g.49185903C>A | CA384642448 | TUBA1A | c.463G>T (p.Glu155Ter) c.358G>T (p.Glu120Ter) n.1496G>T c.486G>T (p.Trp162Cys) c.615G>T (p.Trp205Cys) | |
| 12 | g.49185903C>G | CA384642452 | TUBA1A | c.463G>C (p.Glu155Gln) c.358G>C (p.Glu120Gln) n.1496G>C c.486G>C (p.Trp162Cys) c.615G>C (p.Trp205Cys) | |
| 12 | g.49185903C>T | CA384642449 | TUBA1A | c.463G>A (p.Glu155Lys) c.358G>A (p.Glu120Lys) n.1496G>A c.486G>A (p.Trp162Ter) c.615G>A (p.Trp205Ter) | |
| 12 | g.49185904C>A | CA384642459 | TUBA1A | c.462G>T (p.Met154Ile) c.357G>T (p.Met119Ile) n.1495G>T c.485G>T (p.Trp162Leu) c.614G>T (p.Trp205Leu) | |
| 12 | g.49185904C>G | CA384642462 | TUBA1A | c.462G>C (p.Met154Ile) c.357G>C (p.Met119Ile) n.1495G>C c.485G>C (p.Trp162Ser) c.614G>C (p.Trp205Ser) | |
| 12 | g.49185904C>T | CA384642464 | TUBA1A | c.462G>A (p.Met154Ile) c.357G>A (p.Met119Ile) n.1495G>A c.485G>A (p.Trp162Ter) c.614G>A (p.Trp205Ter) | |
| 12 | g.49185905A>C | CA384642466 | TUBA1A | c.461T>G (p.Met154Arg) c.356T>G (p.Met119Arg) n.1494T>G c.484T>G (p.Trp162Gly) c.613T>G (p.Trp205Gly) | |
| 12 | g.49185905A>G | CA384642468 | TUBA1A | c.461T>C (p.Met154Thr) c.356T>C (p.Met119Thr) n.1494T>C c.484T>C (p.Trp162Arg) c.613T>C (p.Trp205Arg) | |
| 12 | g.49185905A>T | CA384642470 | TUBA1A | c.461T>A (p.Met154Lys) c.356T>A (p.Met119Lys) n.1494T>A c.484T>A (p.Trp162Arg) c.613T>A (p.Trp205Arg) | |
| 12 | g.49185906T>A | CA384642472 | TUBA1A | c.460A>T (p.Met154Leu) c.355A>T (p.Met119Leu) n.1493A>T c.483A>T (p.Ser161=) c.612A>T (p.Ser204=) | |
| 12 | g.49185906T>C | CA384642473 | TUBA1A | c.460A>G (p.Met154Val) c.355A>G (p.Met119Val) n.1493A>G c.483A>G (p.Ser161=) c.612A>G (p.Ser204=) | |
| 12 | g.49185906T>G | CA384642475 | TUBA1A | c.460A>C (p.Met154Leu) c.355A>C (p.Met119Leu) n.1493A>C c.483A>C (p.Ser161=) c.612A>C (p.Ser204=) | |
| 12 | g.49185907G>A | CA384642477 | TUBA1A | c.459C>T (p.Leu153=) c.354C>T (p.Leu118=) n.1492C>T c.482C>T (p.Ser161Leu) c.611C>T (p.Ser204Leu) | |
| 12 | g.49185907G>C | CA384642479 | TUBA1A | c.459C>G (p.Leu153=) c.354C>G (p.Leu118=) n.1492C>G c.482C>G (p.Ser161Ter) c.611C>G (p.Ser204Ter) | |
| 12 | g.49185907G>T | CA384642480 | TUBA1A | c.459C>A (p.Leu153=) c.354C>A (p.Leu118=) n.1492C>A c.482C>A (p.Ser161Ter) c.611C>A (p.Ser204Ter) | |
| 12 | g.49185908A>C | CA384642483 | TUBA1A | c.458T>G (p.Leu153Arg) c.353T>G (p.Leu118Arg) n.1491T>G c.481T>G (p.Ser161Ala) c.610T>G (p.Ser204Ala) | |
| 12 | g.49185908A>G | CA384642486 | TUBA1A | c.458T>C (p.Leu153Pro) c.353T>C (p.Leu118Pro) n.1491T>C c.481T>C (p.Ser161Pro) c.610T>C (p.Ser204Pro) | |
| 12 | g.49185908A>T | CA384642484 | TUBA1A | c.458T>A (p.Leu153His) c.353T>A (p.Leu118His) n.1491T>A c.481T>A (p.Ser161Thr) c.610T>A (p.Ser204Thr) | |
| 12 | g.49185909G>A | CA384642487 | TUBA1A | c.457C>T (p.Leu153Phe) c.352C>T (p.Leu118Phe) n.1490C>T c.480C>T (p.Cys160=) c.609C>T (p.Cys203=) | |
| 12 | g.49185909G>C | CA384642488 | TUBA1A | c.457C>G (p.Leu153Val) c.352C>G (p.Leu118Val) n.1490C>G c.480C>G (p.Cys160Trp) c.609C>G (p.Cys203Trp) | |
| 12 | g.49185909G>T | CA384642490 | TUBA1A | c.457C>A (p.Leu153Ile) c.352C>A (p.Leu118Ile) n.1490C>A c.480C>A (p.Cys160Ter) c.609C>A (p.Cys203Ter) | |
| 12 | g.49185910C>A | CA384642492 | TUBA1A | c.456G>T (p.Leu152=) c.351G>T (p.Leu117=) n.1489G>T c.479G>T (p.Cys160Phe) c.608G>T (p.Cys203Phe) | |
| 12 | g.49185910C= | CA2035023127 | TUBA1A | c.456G= (p.Leu152=) c.351G= (p.Leu117=) n.1489G= c.479G= (p.Cys160=) c.608G= (p.Cys203=) | |
| 12 | g.49185910C>G | CA384642494 | TUBA1A | c.456G>C (p.Leu152=) c.351G>C (p.Leu117=) n.1489G>C c.479G>C (p.Cys160Ser) c.608G>C (p.Cys203Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185910C>T | CA384642497 | TUBA1A | c.456G>A (p.Leu152=) c.351G>A (p.Leu117=) n.1489G>A c.479G>A (p.Cys160Tyr) c.608G>A (p.Cys203Tyr) | gnomAD v4 |
| 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) | |
| 12 | g.49185926G>A | CA384642597 | TUBA1A | c.440C>T (p.Ser147Phe) c.335C>T (p.Ser112Phe) n.1473C>T c.463C>T (p.Leu155=) c.592C>T (p.Leu198=) | |
| 12 | g.49185926G>C | CA384642599 | TUBA1A | c.440C>G (p.Ser147Cys) c.335C>G (p.Ser112Cys) n.1473C>G c.463C>G (p.Leu155Val) c.592C>G (p.Leu198Val) | |
| 12 | g.49185926G>T | CA384642601 | TUBA1A | c.440C>A (p.Ser147Tyr) c.335C>A (p.Ser112Tyr) n.1473C>A c.463C>A (p.Leu155Met) c.592C>A (p.Leu198Met) | |
| 12 | g.49185927A>C | CA384642608 | TUBA1A | c.439T>G (p.Ser147Ala) c.334T>G (p.Ser112Ala) n.1472T>G c.462T>G (p.Val154=) c.591T>G (p.Val197=) | |
| 12 | g.49185927A>G | CA384642610 | TUBA1A | c.439T>C (p.Ser147Pro) c.334T>C (p.Ser112Pro) n.1472T>C c.462T>C (p.Val154=) c.591T>C (p.Val197=) | |
| 12 | g.49185927A>T | CA384642611 | TUBA1A | c.439T>A (p.Ser147Thr) c.334T>A (p.Ser112Thr) n.1472T>A c.462T>A (p.Val154=) c.591T>A (p.Val197=) | |
| 12 | g.49185928A= | CA2035023165 | TUBA1A | c.438T= (p.Gly146=) c.333T= (p.Gly111=) n.1471T= c.461T= (p.Val154=) c.590T= (p.Val197=) | |
| 12 | g.49185928A>C | CA6550248 | TUBA1A | c.438T>G (p.Gly146=) c.333T>G (p.Gly111=) n.1471T>G c.461T>G (p.Val154Gly) c.590T>G (p.Val197Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185928A>G | CA384642614 | TUBA1A | c.438T>C (p.Gly146=) c.333T>C (p.Gly111=) n.1471T>C c.461T>C (p.Val154Ala) c.590T>C (p.Val197Ala) | |
| 12 | g.49185928A>T | CA384642616 | TUBA1A | c.438T>A (p.Gly146=) c.333T>A (p.Gly111=) n.1471T>A c.461T>A (p.Val154Asp) c.590T>A (p.Val197Asp) | |
| 12 | g.49185929C>A | CA384642621 | TUBA1A | c.437G>T (p.Gly146Val) c.332G>T (p.Gly111Val) n.1470G>T c.460G>T (p.Val154Phe) c.589G>T (p.Val197Phe) | |
| 12 | g.49185929C>G | CA384642620 | TUBA1A | c.437G>C (p.Gly146Ala) c.332G>C (p.Gly111Ala) n.1470G>C c.460G>C (p.Val154Leu) c.589G>C (p.Val197Leu) | |
| 12 | g.49185929C>T | CA384642618 | TUBA1A | c.437G>A (p.Gly146Asp) c.332G>A (p.Gly111Asp) n.1470G>A c.460G>A (p.Val154Ile) c.589G>A (p.Val197Ile) | |
| 12 | g.49185930C>A | CA384642622 | TUBA1A | c.436G>T (p.Gly146Cys) c.331G>T (p.Gly111Cys) n.1469G>T c.459G>T (p.Leu153=) c.588G>T (p.Leu196=) | |
| 12 | g.49185930C>G | CA384642623 | TUBA1A | c.436G>C (p.Gly146Arg) c.331G>C (p.Gly111Arg) n.1469G>C c.459G>C (p.Leu153=) c.588G>C (p.Leu196=) | |
| 12 | g.49185930C>T | CA384642626 | TUBA1A | c.436G>A (p.Gly146Ser) c.331G>A (p.Gly111Ser) n.1469G>A c.459G>A (p.Leu153=) c.588G>A (p.Leu196=) | gnomAD v4 COSMIC |
| 12 | g.49185931A= | CA2035023170 | TUBA1A | c.435T= (p.Thr145=) c.330T= (p.Thr110=) n.1468T= c.458T= (p.Leu153=) c.587T= (p.Leu196=) | |
| 12 | g.49185931A>C | CA384642628 | TUBA1A | c.435T>G (p.Thr145=) c.330T>G (p.Thr110=) n.1468T>G c.458T>G (p.Leu153Arg) c.587T>G (p.Leu196Arg) | |
| 12 | g.49185931A>G | CA384642631 | TUBA1A | c.435T>C (p.Thr145=) c.330T>C (p.Thr110=) n.1468T>C c.458T>C (p.Leu153Pro) c.587T>C (p.Leu196Pro) | gnomAD v4 |
| 12 | g.49185931A>T | CA384642633 | TUBA1A | c.435T>A (p.Thr145=) c.330T>A (p.Thr110=) n.1468T>A c.458T>A (p.Leu153Gln) c.587T>A (p.Leu196Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185932G>A | CA384642634 | TUBA1A | c.434C>T (p.Thr145Ile) c.329C>T (p.Thr110Ile) n.1467C>T c.457C>T (p.Leu153=) c.586C>T (p.Leu196=) | |
| 12 | g.49185932G>C | CA384642635 | TUBA1A | c.434C>G (p.Thr145Ser) c.329C>G (p.Thr110Ser) n.1467C>G c.457C>G (p.Leu153Val) c.586C>G (p.Leu196Val) | |
| 12 | g.49185932G>T | CA384642636 | TUBA1A | c.434C>A (p.Thr145Asn) c.329C>A (p.Thr110Asn) n.1467C>A c.457C>A (p.Leu153Met) c.586C>A (p.Leu196Met) | |
| 12 | g.49185933T>A | CA384642637 | TUBA1A | c.433A>T (p.Thr145Ser) c.328A>T (p.Thr110Ser) n.1466A>T c.456A>T (p.Glu152Asp) c.585A>T (p.Glu195Asp) | |
| 12 | g.49185933T>C | CA384642638 | TUBA1A | c.433A>G (p.Thr145Ala) c.328A>G (p.Thr110Ala) n.1466A>G c.456A>G (p.Glu152=) c.585A>G (p.Glu195=) | |
| 12 | g.49185933T>G | CA384642642 | TUBA1A | c.433A>C (p.Thr145Pro) c.328A>C (p.Thr110Pro) n.1466A>C c.456A>C (p.Glu152Asp) c.585A>C (p.Glu195Asp) | |
| 12 | g.49185934T>A | CA6550249 | TUBA1A | c.432A>T (p.Gly144=) c.327A>T (p.Gly109=) n.1465A>T c.455A>T (p.Glu152Val) c.584A>T (p.Glu195Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185934T>C | CA384642646 | TUBA1A | c.432A>G (p.Gly144=) c.327A>G (p.Gly109=) n.1465A>G c.455A>G (p.Glu152Gly) c.584A>G (p.Glu195Gly) | |
| 12 | g.49185934T>G | CA384642647 | TUBA1A | c.432A>C (p.Gly144=) c.327A>C (p.Gly109=) n.1465A>C c.455A>C (p.Glu152Ala) c.584A>C (p.Glu195Ala) | |
| 12 | g.49185934T= | CA2035023172 | TUBA1A | c.432A= (p.Gly144=) c.327A= (p.Gly109=) n.1465A= c.455A= (p.Glu152=) c.584A= (p.Glu195=) | |
| 12 | g.49185935C>A | CA384642650 | TUBA1A | c.431G>T (p.Gly144Val) c.326G>T (p.Gly109Val) n.1464G>T c.454G>T (p.Glu152Ter) c.583G>T (p.Glu195Ter) | ClinVar dbSNP |
| 12 | g.49185935C>G | CA384642652 | TUBA1A | c.431G>C (p.Gly144Ala) c.326G>C (p.Gly109Ala) n.1464G>C c.454G>C (p.Glu152Gln) c.583G>C (p.Glu195Gln) | |
| 12 | g.49185935C>T | CA384642654 | TUBA1A | c.431G>A (p.Gly144Glu) c.326G>A (p.Gly109Glu) n.1464G>A c.454G>A (p.Glu152Lys) c.583G>A (p.Glu195Lys) | |
| 12 | g.49185936C>A | CA384642656 | TUBA1A | c.430G>T (p.Gly144Ter) c.325G>T (p.Gly109Ter) n.1463G>T c.453G>T (p.Gly151=) c.582G>T (p.Gly194=) | |
| 12 | g.49185936C>G | CA384642661 | TUBA1A | c.430G>C (p.Gly144Arg) c.325G>C (p.Gly109Arg) n.1463G>C c.453G>C (p.Gly151=) c.582G>C (p.Gly194=) | |
| 12 | g.49185936C>T | CA384642663 | TUBA1A | c.430G>A (p.Gly144Arg) c.325G>A (p.Gly109Arg) n.1463G>A c.453G>A (p.Gly151=) c.582G>A (p.Gly194=) | |
| 12 | g.49185937C>A | CA384642665 | TUBA1A | c.429G>T (p.Gly143=) c.324G>T (p.Gly108=) n.1462G>T c.452G>T (p.Gly151Val) c.581G>T (p.Gly194Val) | |
| 12 | g.49185937C>G | CA384642667 | TUBA1A | c.429G>C (p.Gly143=) c.324G>C (p.Gly108=) n.1462G>C c.452G>C (p.Gly151Ala) c.581G>C (p.Gly194Ala) | |
| 12 | g.49185937C>T | CA384642669 | TUBA1A | c.429G>A (p.Gly143=) c.324G>A (p.Gly108=) n.1462G>A c.452G>A (p.Gly151Glu) c.581G>A (p.Gly194Glu) | dbSNP |
| 12 | g.49185938C>A | CA384642671 | TUBA1A | c.428G>T (p.Gly143Val) c.323G>T (p.Gly108Val) n.1461G>T c.451G>T (p.Gly151Trp) c.580G>T (p.Gly194Trp) | |
| 12 | g.49185938C>G | CA384642673 | TUBA1A | c.428G>C (p.Gly143Ala) c.323G>C (p.Gly108Ala) n.1461G>C c.451G>C (p.Gly151Arg) c.580G>C (p.Gly194Arg) | |
| 12 | g.49185938C>T | CA384642675 | TUBA1A | c.428G>A (p.Gly143Glu) c.323G>A (p.Gly108Glu) n.1461G>A c.451G>A (p.Gly151Arg) c.580G>A (p.Gly194Arg) | |
| 12 | g.49185939C>A | CA384642679 | TUBA1A | c.427G>T (p.Gly143Trp) c.322G>T (p.Gly108Trp) n.1460G>T c.450G>T (p.Val150=) c.579G>T (p.Val193=) | ClinVar dbSNP |
| 12 | g.49185939C= | CA2035023177 | TUBA1A | c.427G= (p.Gly143=) c.322G= (p.Gly108=) n.1460G= c.450G= (p.Val150=) c.579G= (p.Val193=) | |
| 12 | g.49185939C>G | CA384642681 | TUBA1A | c.427G>C (p.Gly143Arg) c.322G>C (p.Gly108Arg) n.1460G>C c.450G>C (p.Val150=) c.579G>C (p.Val193=) | ClinVar |
| 12 | g.49185939C>T | CA384642677 | TUBA1A | c.427G>A (p.Gly143Arg) c.322G>A (p.Gly108Arg) n.1460G>A c.450G>A (p.Val150=) c.579G>A (p.Val193=) | ClinVar dbSNP |
| 12 | g.49185940A= | CA2035023180 | TUBA1A | c.426T= (p.Gly142=) c.321T= (p.Gly107=) n.1459T= c.449T= (p.Val150=) c.578T= (p.Val193=) | |
| 12 | g.49185940A>C | CA384642683 | TUBA1A | c.426T>G (p.Gly142=) c.321T>G (p.Gly107=) n.1459T>G c.449T>G (p.Val150Gly) c.578T>G (p.Val193Gly) | |
| 12 | g.49185940A>G | CA6550250 | TUBA1A | c.426T>C (p.Gly142=) c.321T>C (p.Gly107=) n.1459T>C c.449T>C (p.Val150Ala) c.578T>C (p.Val193Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185940A>T | CA384642686 | TUBA1A | c.426T>A (p.Gly142=) c.321T>A (p.Gly107=) n.1459T>A c.449T>A (p.Val150Glu) c.578T>A (p.Val193Glu) | |
| 12 | g.49185941C>A | CA384642687 | TUBA1A | c.425G>T (p.Gly142Val) c.320G>T (p.Gly107Val) n.1458G>T c.448G>T (p.Val150Leu) c.577G>T (p.Val193Leu) | |
| 12 | g.49185941C>G | CA384642688 | TUBA1A | c.425G>C (p.Gly142Ala) c.320G>C (p.Gly107Ala) n.1458G>C c.448G>C (p.Val150Leu) c.577G>C (p.Val193Leu) | |
| 12 | g.49185941C>T | CA384642689 | TUBA1A | c.425G>A (p.Gly142Asp) c.320G>A (p.Gly107Asp) n.1458G>A c.448G>A (p.Val150Met) c.577G>A (p.Val193Met) | |
| 12 | g.49185942C>A | CA384642692 | TUBA1A | c.424G>T (p.Gly142Cys) c.319G>T (p.Gly107Cys) n.1457G>T c.447G>T (p.Leu149Phe) c.576G>T (p.Leu192Phe) | ClinVar dbSNP |
| 12 | g.49185942C= | CA2035023186 | TUBA1A | c.424G= (p.Gly142=) c.319G= (p.Gly107=) n.1457G= c.447G= (p.Leu149=) c.576G= (p.Leu192=) | |
| 12 | g.49185942C>G | CA384642690 | TUBA1A | c.424G>C (p.Gly142Arg) c.319G>C (p.Gly107Arg) n.1457G>C c.447G>C (p.Leu149Phe) c.576G>C (p.Leu192Phe) | |
| 12 | g.49185942C>T | CA384642691 | TUBA1A | c.424G>A (p.Gly142Ser) c.319G>A (p.Gly107Ser) n.1457G>A c.447G>A (p.Leu149=) c.576G>A (p.Leu192=) | ClinVar dbSNP |
| 12 | g.49185943A>C | CA384642693 | TUBA1A | c.423T>G (p.Phe141Leu) c.318T>G (p.Phe106Leu) n.1456T>G c.446T>G (p.Leu149Trp) c.575T>G (p.Leu192Trp) | |
| 12 | g.49185943A>G | CA384642694 | TUBA1A | c.423T>C (p.Phe141=) c.318T>C (p.Phe106=) n.1456T>C c.446T>C (p.Leu149Ser) c.575T>C (p.Leu192Ser) | |
| 12 | g.49185943A>T | CA384642695 | TUBA1A | c.423T>A (p.Phe141Leu) c.318T>A (p.Phe106Leu) n.1456T>A c.446T>A (p.Leu149Ter) c.575T>A (p.Leu192Ter) | |
| 12 | g.49185944A>C | CA384642696 | TUBA1A | c.422T>G (p.Phe141Cys) c.317T>G (p.Phe106Cys) n.1455T>G c.445T>G (p.Leu149Val) c.574T>G (p.Leu192Val) | |
| 12 | g.49185944A>G | CA384642697 | TUBA1A | c.422T>C (p.Phe141Ser) c.317T>C (p.Phe106Ser) n.1455T>C c.445T>C (p.Leu149=) c.574T>C (p.Leu192=) | |
| 12 | g.49185944A>T | CA384642698 | TUBA1A | c.422T>A (p.Phe141Tyr) c.317T>A (p.Phe106Tyr) n.1455T>A c.445T>A (p.Leu149Met) c.574T>A (p.Leu192Met) | |
| 12 | g.49185945A>C | CA384642699 | TUBA1A | c.421T>G (p.Phe141Val) c.316T>G (p.Phe106Val) n.1454T>G c.444T>G (p.Ala148=) c.573T>G (p.Ala191=) | ClinVar |
| 12 | g.49185945A>G | CA384642701 | TUBA1A | c.421T>C (p.Phe141Leu) c.316T>C (p.Phe106Leu) n.1454T>C c.444T>C (p.Ala148=) c.573T>C (p.Ala191=) | |
| 12 | g.49185945A>T | CA384642700 | TUBA1A | c.421T>A (p.Phe141Ile) c.316T>A (p.Phe106Ile) n.1454T>A c.444T>A (p.Ala148=) c.573T>A (p.Ala191=) | |
| 12 | g.49185946G>A | CA384642702 | TUBA1A | c.420C>T (p.Ser140=) c.315C>T (p.Ser105=) n.1453C>T c.443C>T (p.Ala148Val) c.572C>T (p.Ala191Val) | |
| 12 | g.49185946G>C | CA384642703 | TUBA1A | c.420C>G (p.Ser140Arg) c.315C>G (p.Ser105Arg) n.1453C>G c.443C>G (p.Ala148Gly) c.572C>G (p.Ala191Gly) | |
| 12 | g.49185946G>T | CA384642704 | TUBA1A | c.420C>A (p.Ser140Arg) c.315C>A (p.Ser105Arg) n.1453C>A c.443C>A (p.Ala148Asp) c.572C>A (p.Ala191Asp) | ClinVar |
| 12 | g.49185947C>A | CA384642705 | TUBA1A | c.419G>T (p.Ser140Ile) c.314G>T (p.Ser105Ile) n.1452G>T c.442G>T (p.Ala148Ser) c.571G>T (p.Ala191Ser) | |
| 12 | g.49185947C>G | CA384642706 | TUBA1A | c.419G>C (p.Ser140Thr) c.314G>C (p.Ser105Thr) n.1452G>C c.442G>C (p.Ala148Pro) c.571G>C (p.Ala191Pro) | |
| 12 | g.49185947C>T | CA384642707 | TUBA1A | c.419G>A (p.Ser140Asn) c.314G>A (p.Ser105Asn) n.1452G>A c.442G>A (p.Ala148Thr) c.571G>A (p.Ala191Thr) | |
| 12 | g.49185948T>A | CA384642708 | TUBA1A | c.418A>T (p.Ser140Cys) c.313A>T (p.Ser105Cys) n.1451A>T c.441A>T (p.Thr147=) c.570A>T (p.Thr190=) | |
| 12 | g.49185948T>C | CA384642709 | TUBA1A | c.418A>G (p.Ser140Gly) c.313A>G (p.Ser105Gly) n.1451A>G c.441A>G (p.Thr147=) c.570A>G (p.Thr190=) | |
| 12 | g.49185948T>G | CA384642710 | TUBA1A | c.418A>C (p.Ser140Arg) c.313A>C (p.Ser105Arg) n.1451A>C c.441A>C (p.Thr147=) c.570A>C (p.Thr190=) | |
| 12 | g.49185949G>A | CA236622723 | TUBA1A | c.417C>T (p.His139=) c.312C>T (p.His104=) n.1450C>T c.440C>T (p.Thr147Ile) c.569C>T (p.Thr190Ile) | gnomAD v4 |
| 12 | g.49185949G>C | CA384642711 | TUBA1A | c.417C>G (p.His139Gln) c.312C>G (p.His104Gln) n.1450C>G c.440C>G (p.Thr147Arg) c.569C>G (p.Thr190Arg) | |
| 12 | g.49185949G>T | CA384642712 | TUBA1A | c.417C>A (p.His139Gln) c.312C>A (p.His104Gln) n.1450C>A c.440C>A (p.Thr147Lys) c.569C>A (p.Thr190Lys) | |
| 12 | g.49185950T>A | CA384642713 | TUBA1A | c.416A>T (p.His139Leu) c.311A>T (p.His104Leu) n.1449A>T c.439A>T (p.Thr147Ser) c.568A>T (p.Thr190Ser) | |
| 12 | g.49185950T>C | CA384642715 | TUBA1A | c.416A>G (p.His139Arg) c.311A>G (p.His104Arg) n.1449A>G c.439A>G (p.Thr147Ala) c.568A>G (p.Thr190Ala) | |
| 12 | g.49185950T>G | CA384642714 | TUBA1A | c.416A>C (p.His139Pro) c.311A>C (p.His104Pro) n.1449A>C c.439A>C (p.Thr147Pro) c.568A>C (p.Thr190Pro) | |
| 12 | g.49185951G>A | CA384642716 | TUBA1A | c.415C>T (p.His139Tyr) c.310C>T (p.His104Tyr) n.1448C>T c.438C>T (p.Ser146=) c.567C>T (p.Ser189=) | |
| 12 | g.49185951G>C | CA384642717 | TUBA1A | c.415C>G (p.His139Asp) c.310C>G (p.His104Asp) n.1448C>G c.438C>G (p.Ser146=) c.567C>G (p.Ser189=) | |
| 12 | g.49185951G>T | CA384642718 | TUBA1A | c.415C>A (p.His139Asn) c.310C>A (p.His104Asn) n.1448C>A c.438C>A (p.Ser146=) c.567C>A (p.Ser189=) | |
| 12 | g.49185952G>A | CA384642721 | TUBA1A | c.414C>T (p.Phe138=) c.309C>T (p.Phe103=) n.1447C>T c.437C>T (p.Ser146Phe) c.566C>T (p.Ser189Phe) | |
| 12 | g.49185952G>C | CA384642723 | TUBA1A | c.414C>G (p.Phe138Leu) c.309C>G (p.Phe103Leu) n.1447C>G c.437C>G (p.Ser146Cys) c.566C>G (p.Ser189Cys) | |
| 12 | g.49185952G>T | CA384642724 | TUBA1A | c.414C>A (p.Phe138Leu) c.309C>A (p.Phe103Leu) n.1447C>A c.437C>A (p.Ser146Tyr) c.566C>A (p.Ser189Tyr) | |
| 12 | g.49185953A>C | CA384642726 | TUBA1A | c.413T>G (p.Phe138Cys) c.308T>G (p.Phe103Cys) n.1446T>G c.436T>G (p.Ser146Ala) c.565T>G (p.Ser189Ala) | |
| 12 | g.49185953A>G | CA384642728 | TUBA1A | c.413T>C (p.Phe138Ser) c.308T>C (p.Phe103Ser) n.1446T>C c.436T>C (p.Ser146Pro) c.565T>C (p.Ser189Pro) | ClinVar |
| 12 | g.49185953A>T | CA384642729 | TUBA1A | c.413T>A (p.Phe138Tyr) c.308T>A (p.Phe103Tyr) n.1446T>A c.436T>A (p.Ser146Thr) c.565T>A (p.Ser189Thr) | |
| 12 | g.49185954A>C | CA384642730 | TUBA1A | c.412T>G (p.Phe138Val) c.307T>G (p.Phe103Val) n.1445T>G c.435T>G (p.Phe145Leu) c.564T>G (p.Phe188Leu) | |
| 12 | g.49185954A>G | CA384642732 | TUBA1A | c.412T>C (p.Phe138Leu) c.307T>C (p.Phe103Leu) n.1445T>C c.435T>C (p.Phe145=) c.564T>C (p.Phe188=) | |
| 12 | g.49185954A>T | CA384642733 | TUBA1A | c.412T>A (p.Phe138Ile) c.307T>A (p.Phe103Ile) n.1445T>A c.435T>A (p.Phe145Leu) c.564T>A (p.Phe188Leu) | |
| 12 | g.49185955A>C | CA384642737 | TUBA1A | c.411T>G (p.Val137=) c.306T>G (p.Val102=) n.1444T>G c.434T>G (p.Phe145Cys) c.563T>G (p.Phe188Cys) | |
| 12 | g.49185955A>G | CA384642738 | TUBA1A | c.411T>C (p.Val137=) c.306T>C (p.Val102=) n.1444T>C c.434T>C (p.Phe145Ser) c.563T>C (p.Phe188Ser) | |
| 12 | g.49185955A>T | CA384642736 | TUBA1A | c.411T>A (p.Val137=) c.306T>A (p.Val102=) n.1444T>A c.434T>A (p.Phe145Tyr) c.563T>A (p.Phe188Tyr) | |
| 12 | g.49185956A= | CA2035023191 | TUBA1A | c.410T= (p.Val137=) c.305T= (p.Val102=) n.1443T= c.433T= (p.Phe145=) c.562T= (p.Phe188=) | |
| 12 | g.49185956A>C | CA384642739 | TUBA1A | c.410T>G (p.Val137Gly) c.305T>G (p.Val102Gly) n.1443T>G c.433T>G (p.Phe145Val) c.562T>G (p.Phe188Val) | |
| 12 | g.49185956A>G | CA384642741 | TUBA1A | c.410T>C (p.Val137Ala) c.305T>C (p.Val102Ala) n.1443T>C c.433T>C (p.Phe145Leu) c.562T>C (p.Phe188Leu) | |
| 12 | g.49185956A>T | CA384642742 | TUBA1A | c.410T>A (p.Val137Asp) c.305T>A (p.Val102Asp) n.1443T>A c.433T>A (p.Phe145Ile) c.562T>A (p.Phe188Ile) | ClinVar dbSNP |
| 12 | g.49185957C>A | CA384642744 | TUBA1A | c.409G>T (p.Val137Phe) c.304G>T (p.Val102Phe) n.1442G>T c.432G>T (p.Trp144Cys) c.561G>T (p.Trp187Cys) | |
| 12 | g.49185957C>G | CA384642745 | TUBA1A | c.409G>C (p.Val137Leu) c.304G>C (p.Val102Leu) n.1442G>C c.432G>C (p.Trp144Cys) c.561G>C (p.Trp187Cys) | |
| 12 | g.49185957C>T | CA384642747 | TUBA1A | c.409G>A (p.Val137Ile) c.304G>A (p.Val102Ile) n.1442G>A c.432G>A (p.Trp144Ter) c.561G>A (p.Trp187Ter) | |
| 12 | g.49185958C>A | CA384642749 | TUBA1A | c.408G>T (p.Leu136Phe) c.303G>T (p.Leu101Phe) n.1441G>T c.431G>T (p.Trp144Leu) c.560G>T (p.Trp187Leu) | |
| 12 | g.49185958C= | CA2035023196 | TUBA1A | c.408G= (p.Leu136=) c.303G= (p.Leu101=) n.1441G= c.431G= (p.Trp144=) c.560G= (p.Trp187=) | |
| 12 | g.49185958C>G | CA384642752 | TUBA1A | c.408G>C (p.Leu136Phe) c.303G>C (p.Leu101Phe) n.1441G>C c.431G>C (p.Trp144Ser) c.560G>C (p.Trp187Ser) | |
| 12 | g.49185958C>T | CA236622727 | TUBA1A | c.408G>A (p.Leu136=) c.303G>A (p.Leu101=) n.1441G>A c.431G>A (p.Trp144Ter) c.560G>A (p.Trp187Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185959A= | CA2035023199 | TUBA1A | c.407T= (p.Leu136=) c.302T= (p.Leu101=) n.1440T= c.430T= (p.Trp144=) c.559T= (p.Trp187=) | |
| 12 | g.49185959A>C | CA384642754 | TUBA1A | c.407T>G (p.Leu136Trp) c.302T>G (p.Leu101Trp) n.1440T>G c.430T>G (p.Trp144Gly) c.559T>G (p.Trp187Gly) | |
| 12 | g.49185959A>G | CA384642756 | TUBA1A | c.407T>C (p.Leu136Ser) c.302T>C (p.Leu101Ser) n.1440T>C c.430T>C (p.Trp144Arg) c.559T>C (p.Trp187Arg) | |
| 12 | g.49185959A>T | CA384642758 | TUBA1A | c.407T>A (p.Leu136Ter) c.302T>A (p.Leu101Ter) n.1440T>A c.430T>A (p.Trp144Arg) c.559T>A (p.Trp187Arg) | dbSNP |
| 12 | g.49185960A>C | CA384642760 | TUBA1A | c.406T>G (p.Leu136Val) c.301T>G (p.Leu101Val) n.1439T>G c.429T>G (p.Ser143=) c.558T>G (p.Ser186=) | |
| 12 | g.49185960A>G | CA479717463 | TUBA1A | c.406T>C (p.Leu136=) c.301T>C (p.Leu101=) n.1439T>C c.429T>C (p.Ser143=) c.558T>C (p.Ser186=) | gnomAD v4 COSMIC |
| 12 | g.49185960A>T | CA384642761 | TUBA1A | c.406T>A (p.Leu136Met) c.301T>A (p.Leu101Met) n.1439T>A c.429T>A (p.Ser143=) c.558T>A (p.Ser186=) | |
| 12 | g.49185961G>A | CA384642766 | TUBA1A | c.405C>T (p.Phe135=) c.300C>T (p.Phe100=) n.1438C>T c.428C>T (p.Ser143Phe) c.557C>T (p.Ser186Phe) | |
| 12 | g.49185961G>C | CA384642768 | TUBA1A | c.405C>G (p.Phe135Leu) c.300C>G (p.Phe100Leu) n.1438C>G c.428C>G (p.Ser143Cys) c.557C>G (p.Ser186Cys) | |
| 12 | g.49185961G>T | CA384642764 | TUBA1A | c.405C>A (p.Phe135Leu) c.300C>A (p.Phe100Leu) n.1438C>A c.428C>A (p.Ser143Tyr) c.557C>A (p.Ser186Tyr) | |
| 12 | g.49185962A>C | CA384642773 | TUBA1A | c.404T>G (p.Phe135Cys) c.299T>G (p.Phe100Cys) n.1437T>G c.427T>G (p.Ser143Ala) c.556T>G (p.Ser186Ala) | |
| 12 | g.49185962A>G | CA384642771 | TUBA1A | c.404T>C (p.Phe135Ser) c.299T>C (p.Phe100Ser) n.1437T>C c.427T>C (p.Ser143Pro) c.556T>C (p.Ser186Pro) | |
| 12 | g.49185962A>T | CA384642774 | TUBA1A | c.404T>A (p.Phe135Tyr) c.299T>A (p.Phe100Tyr) n.1437T>A c.427T>A (p.Ser143Thr) c.556T>A (p.Ser186Thr) | |
| 12 | g.49185963A>C | CA384642776 | TUBA1A | c.403T>G (p.Phe135Val) c.298T>G (p.Phe100Val) n.1436T>G c.426T>G (p.Ala142=) c.555T>G (p.Ala185=) | |
| 12 | g.49185963A>G | CA384642778 | TUBA1A | c.403T>C (p.Phe135Leu) c.298T>C (p.Phe100Leu) n.1436T>C c.426T>C (p.Ala142=) c.555T>C (p.Ala185=) | |
| 12 | g.49185963A>T | CA384642780 | TUBA1A | c.403T>A (p.Phe135Ile) c.298T>A (p.Phe100Ile) n.1436T>A c.426T>A (p.Ala142=) c.555T>A (p.Ala185=) | |
| 12 | g.49185964G>A | CA384642783 | TUBA1A | c.402C>T (p.Gly134=) c.297C>T (p.Gly99=) n.1435C>T c.425C>T (p.Ala142Val) c.554C>T (p.Ala185Val) | |
| 12 | g.49185964G>C | CA384642785 | TUBA1A | c.402C>G (p.Gly134=) c.297C>G (p.Gly99=) n.1435C>G c.425C>G (p.Ala142Gly) c.554C>G (p.Ala185Gly) | |
| 12 | g.49185964G>T | CA384642787 | TUBA1A | c.402C>A (p.Gly134=) c.297C>A (p.Gly99=) n.1435C>A c.425C>A (p.Ala142Asp) c.554C>A (p.Ala185Asp) | |
| 12 | g.49185965C>A | CA384642792 | TUBA1A | c.401G>T (p.Gly134Val) c.296G>T (p.Gly99Val) n.1434G>T c.424G>T (p.Ala142Ser) c.553G>T (p.Ala185Ser) | |
| 12 | g.49185965C>G | CA384642791 | TUBA1A | c.401G>C (p.Gly134Ala) c.296G>C (p.Gly99Ala) n.1434G>C c.424G>C (p.Ala142Pro) c.553G>C (p.Ala185Pro) | |
| 12 | g.49185965C>T | CA384642789 | TUBA1A | c.401G>A (p.Gly134Asp) c.296G>A (p.Gly99Asp) n.1434G>A c.424G>A (p.Ala142Thr) c.553G>A (p.Ala185Thr) | |
| 12 | g.49185966C>A | CA384642794 | TUBA1A | c.400G>T (p.Gly134Cys) c.295G>T (p.Gly99Cys) n.1433G>T c.423G>T (p.Arg141Ser) c.552G>T (p.Arg184Ser) | |
| 12 | g.49185966C>G | CA384642795 | TUBA1A | c.400G>C (p.Gly134Arg) c.295G>C (p.Gly99Arg) n.1433G>C c.423G>C (p.Arg141Ser) c.552G>C (p.Arg184Ser) | |
| 12 | g.49185966C>T | CA384642796 | TUBA1A | c.400G>A (p.Gly134Ser) c.295G>A (p.Gly99Ser) n.1433G>A c.423G>A (p.Arg141=) c.552G>A (p.Arg184=) | |
| 12 | g.49185967C>A | CA384642799 | TUBA1A | c.399G>T (p.Gln133His) c.294G>T (p.Gln98His) n.1432G>T c.422G>T (p.Arg141Met) c.551G>T (p.Arg184Met) | |
| 12 | g.49185967C= | CA2035023202 | TUBA1A | c.399G= (p.Gln133=) c.294G= (p.Gln98=) n.1432G= c.422G= (p.Arg141=) c.551G= (p.Arg184=) | |
| 12 | g.49185967C>G | CA384642801 | TUBA1A | c.399G>C (p.Gln133His) c.294G>C (p.Gln98His) n.1432G>C c.422G>C (p.Arg141Thr) c.551G>C (p.Arg184Thr) | |
| 12 | g.49185967C>T | CA384642802 | TUBA1A | c.399G>A (p.Gln133=) c.294G>A (p.Gln98=) n.1432G>A c.422G>A (p.Arg141Lys) c.551G>A (p.Arg184Lys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.49185968T>A | CA384642805 | TUBA1A | c.398A>T (p.Gln133Leu) c.293A>T (p.Gln98Leu) n.1431A>T c.421A>T (p.Arg141Trp) c.550A>T (p.Arg184Trp) | |
| 12 | g.49185968T>C | CA384642809 | TUBA1A | c.398A>G (p.Gln133Arg) c.293A>G (p.Gln98Arg) n.1431A>G c.421A>G (p.Arg141Gly) c.550A>G (p.Arg184Gly) | |
| 12 | g.49185968T>G | CA384642807 | TUBA1A | c.398A>C (p.Gln133Pro) c.293A>C (p.Gln98Pro) n.1431A>C c.421A>C (p.Arg141=) c.550A>C (p.Arg184=) | |
| 12 | g.49185969G>A | CA384642813 | TUBA1A | c.397C>T (p.Gln133Ter) c.292C>T (p.Gln98Ter) n.1430C>T c.420C>T (p.Ser140=) c.549C>T (p.Ser183=) | dbSNP |
| 12 | g.49185969G>C | CA384642818 | TUBA1A | c.397C>G (p.Gln133Glu) c.292C>G (p.Gln98Glu) n.1430C>G c.420C>G (p.Ser140=) c.549C>G (p.Ser183=) | |
| 12 | g.49185969G= | CA2035023204 | TUBA1A | c.397C= (p.Gln133=) c.292C= (p.Gln98=) n.1430C= c.420C= (p.Ser140=) c.549C= (p.Ser183=) | |
| 12 | g.49185969G>T | CA384642820 | TUBA1A | c.397C>A (p.Gln133Lys) c.292C>A (p.Gln98Lys) n.1430C>A c.420C>A (p.Ser140=) c.549C>A (p.Ser183=) | |
| 12 | g.49185970G>A | CA173754 | TUBA1A | c.396C>T (p.Leu132=) c.291C>T (p.Leu97=) n.1429C>T c.419C>T (p.Ser140Phe) c.548C>T (p.Ser183Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185970G>C | CA384642822 | TUBA1A | c.396C>G (p.Leu132=) c.291C>G (p.Leu97=) n.1429C>G c.419C>G (p.Ser140Cys) c.548C>G (p.Ser183Cys) | |
| 12 | g.49185970G= | CA2035023207 | TUBA1A | c.396C= (p.Leu132=) c.291C= (p.Leu97=) n.1429C= c.419C= (p.Ser140=) c.548C= (p.Ser183=) | |
| 12 | g.49185970G>T | CA384642824 | TUBA1A | c.396C>A (p.Leu132=) c.291C>A (p.Leu97=) n.1429C>A c.419C>A (p.Ser140Tyr) c.548C>A (p.Ser183Tyr) | |
| 12 | g.49185971A>C | CA384642825 | TUBA1A | c.395T>G (p.Leu132Arg) c.290T>G (p.Leu97Arg) n.1428T>G c.418T>G (p.Ser140Ala) c.547T>G (p.Ser183Ala) | |
| 12 | g.49185971A>G | CA384642827 | TUBA1A | c.395T>C (p.Leu132Pro) c.290T>C (p.Leu97Pro) n.1428T>C c.418T>C (p.Ser140Pro) c.547T>C (p.Ser183Pro) | |
| 12 | g.49185971A>T | CA384642828 | TUBA1A | c.395T>A (p.Leu132His) c.290T>A (p.Leu97His) n.1428T>A c.418T>A (p.Ser140Thr) c.547T>A (p.Ser183Thr) | |
| 12 | g.49185972G>A | CA384642830 | TUBA1A | c.394C>T (p.Leu132Phe) c.289C>T (p.Leu97Phe) n.1427C>T c.417C>T (p.Val139=) c.546C>T (p.Val182=) | |
| 12 | g.49185972G>C | CA384642831 | TUBA1A | c.394C>G (p.Leu132Val) c.289C>G (p.Leu97Val) n.1427C>G c.417C>G (p.Val139=) c.546C>G (p.Val182=) | |
| 12 | g.49185972G>T | CA384642832 | TUBA1A | c.394C>A (p.Leu132Ile) c.289C>A (p.Leu97Ile) n.1427C>A c.417C>A (p.Val139=) c.546C>A (p.Val182=) | |
| 12 | g.49185973A>C | CA384642834 | TUBA1A | c.393T>G (p.Gly131=) c.288T>G (p.Gly96=) n.1426T>G c.416T>G (p.Val139Gly) c.545T>G (p.Val182Gly) | |
| 12 | g.49185973A>G | CA384642837 | TUBA1A | c.393T>C (p.Gly131=) c.288T>C (p.Gly96=) n.1426T>C c.416T>C (p.Val139Ala) c.545T>C (p.Val182Ala) | |
| 12 | g.49185973A>T | CA384642836 | TUBA1A | c.393T>A (p.Gly131=) c.288T>A (p.Gly96=) n.1426T>A c.416T>A (p.Val139Asp) c.545T>A (p.Val182Asp) | |
| 12 | g.49185974C>A | CA384642839 | TUBA1A | c.392G>T (p.Gly131Val) c.287G>T (p.Gly96Val) n.1425G>T c.415G>T (p.Val139Phe) c.544G>T (p.Val182Phe) | |
| 12 | g.49185974C>G | CA384642841 | TUBA1A | c.392G>C (p.Gly131Ala) c.287G>C (p.Gly96Ala) n.1425G>C c.415G>C (p.Val139Leu) c.544G>C (p.Val182Leu) | |
| 12 | g.49185974C>T | CA384642842 | TUBA1A | c.392G>A (p.Gly131Asp) c.287G>A (p.Gly96Asp) n.1425G>A c.415G>A (p.Val139Ile) c.544G>A (p.Val182Ile) | |
| 12 | g.49185975C>A | CA384642845 | TUBA1A | c.391G>T (p.Gly131Cys) c.286G>T (p.Gly96Cys) n.1424G>T c.414G>T (p.Arg138=) c.543G>T (p.Arg181=) | |
| 12 | g.49185975C= | CA2035023212 | TUBA1A | c.391G= (p.Gly131=) c.286G= (p.Gly96=) n.1424G= c.414G= (p.Arg138=) c.543G= (p.Arg181=) | |
| 12 | g.49185975C>G | CA384642846 | TUBA1A | c.391G>C (p.Gly131Arg) c.286G>C (p.Gly96Arg) n.1424G>C c.414G>C (p.Arg138=) c.543G>C (p.Arg181=) | |
| 12 | g.49185975C>T | CA236622740 | TUBA1A | c.391G>A (p.Gly131Ser) c.286G>A (p.Gly96Ser) n.1424G>A c.414G>A (p.Arg138=) c.543G>A (p.Arg181=) | dbSNP |
| 12 | g.49185976C>A | CA384642848 | TUBA1A | c.390G>T (p.Thr130=) c.285G>T (p.Thr95=) n.1423G>T c.413G>T (p.Arg138Leu) c.542G>T (p.Arg181Leu) | gnomAD v4 |
| 12 | g.49185976C= | CA2035023216 | TUBA1A | c.390G= (p.Thr130=) c.285G= (p.Thr95=) n.1423G= c.413G= (p.Arg138=) c.542G= (p.Arg181=) | |
| 12 | g.49185976C>G | CA6550251 | TUBA1A | c.390G>C (p.Thr130=) c.285G>C (p.Thr95=) n.1423G>C c.413G>C (p.Arg138Pro) c.542G>C (p.Arg181Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185976C>T | CA6550252 | TUBA1A | c.390G>A (p.Thr130=) c.285G>A (p.Thr95=) n.1423G>A c.413G>A (p.Arg138Gln) c.542G>A (p.Arg181Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185977G>A | CA384642852 | TUBA1A | c.389C>T (p.Thr130Met) c.284C>T (p.Thr95Met) n.1422C>T c.412C>T (p.Arg138Trp) c.541C>T (p.Arg181Trp) | |
| 12 | g.49185977G>C | CA384642854 | TUBA1A | c.389C>G (p.Thr130Arg) c.284C>G (p.Thr95Arg) n.1422C>G c.412C>G (p.Arg138Gly) c.541C>G (p.Arg181Gly) | |
| 12 | g.49185977G>T | CA384642856 | TUBA1A | c.389C>A (p.Thr130Lys) c.284C>A (p.Thr95Lys) n.1422C>A c.412C>A (p.Arg138=) c.541C>A (p.Arg181=) | |
| 12 | g.49185978T>A | CA384642862 | TUBA1A | c.388A>T (p.Thr130Ser) c.283A>T (p.Thr95Ser) n.1421A>T c.411A>T (p.Ala137=) c.540A>T (p.Ala180=) | |
| 12 | g.49185978T>C | CA384642858 | TUBA1A | c.388A>G (p.Thr130Ala) c.283A>G (p.Thr95Ala) n.1421A>G c.411A>G (p.Ala137=) c.540A>G (p.Ala180=) | |
| 12 | g.49185978T>G | CA384642860 | TUBA1A | c.388A>C (p.Thr130Pro) c.283A>C (p.Thr95Pro) n.1421A>C c.411A>C (p.Ala137=) c.540A>C (p.Ala180=) | |
| 12 | g.49185979G>A | CA6550253 | TUBA1A | c.387C>T (p.Cys129=) c.282C>T (p.Cys94=) n.1420C>T c.410C>T (p.Ala137Val) c.539C>T (p.Ala180Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185979G>C | CA384642865 | TUBA1A | c.387C>G (p.Cys129Trp) c.282C>G (p.Cys94Trp) n.1420C>G c.410C>G (p.Ala137Gly) c.539C>G (p.Ala180Gly) | |
| 12 | g.49185979G= | CA2035023221 | TUBA1A | c.387C= (p.Cys129=) c.282C= (p.Cys94=) n.1420C= c.410C= (p.Ala137=) c.539C= (p.Ala180=) | |
| 12 | g.49185979G>T | CA384642867 | TUBA1A | c.387C>A (p.Cys129Ter) c.282C>A (p.Cys94Ter) n.1420C>A c.410C>A (p.Ala137Glu) c.539C>A (p.Ala180Glu) | dbSNP |
| 12 | g.49185980C>A | CA384642869 | TUBA1A | c.386G>T (p.Cys129Phe) c.281G>T (p.Cys94Phe) n.1419G>T c.409G>T (p.Ala137Ser) c.538G>T (p.Ala180Ser) | |
| 12 | g.49185980C>G | CA384642870 | TUBA1A | c.386G>C (p.Cys129Ser) c.281G>C (p.Cys94Ser) n.1419G>C c.409G>C (p.Ala137Pro) c.538G>C (p.Ala180Pro) | |
| 12 | g.49185980C>T | CA384642871 | TUBA1A | c.386G>A (p.Cys129Tyr) c.281G>A (p.Cys94Tyr) n.1419G>A c.409G>A (p.Ala137Thr) c.538G>A (p.Ala180Thr) | ClinVar |
| 12 | g.49185981A= | CA2035023225 | TUBA1A | c.385T= (p.Cys129=) c.280T= (p.Cys94=) n.1418T= c.408T= (p.Ser136=) c.537T= (p.Ser179=) | |
| 12 | g.49185981A>C | CA384642873 | TUBA1A | c.385T>G (p.Cys129Gly) c.280T>G (p.Cys94Gly) n.1418T>G c.408T>G (p.Ser136Arg) c.537T>G (p.Ser179Arg) | |
| 12 | g.49185981A>G | CA384642874 | TUBA1A | c.385T>C (p.Cys129Arg) c.280T>C (p.Cys94Arg) n.1418T>C c.408T>C (p.Ser136=) c.537T>C (p.Ser179=) | ClinVar dbSNP |
| 12 | g.49185981A>T | CA384642876 | TUBA1A | c.385T>A (p.Cys129Ser) c.280T>A (p.Cys94Ser) n.1418T>A c.408T>A (p.Ser136Arg) c.537T>A (p.Ser179Arg) | |
| 12 | g.49185982C>A | CA384642877 | TUBA1A | c.384G>T (p.Gln128His) c.279G>T (p.Gln93His) n.1417G>T c.407G>T (p.Ser136Ile) c.536G>T (p.Ser179Ile) | |
| 12 | g.49185982C= | CA2035023227 | TUBA1A | c.384G= (p.Gln128=) c.279G= (p.Gln93=) n.1417G= c.407G= (p.Ser136=) c.536G= (p.Ser179=) | |
| 12 | g.49185982C>G | CA384642878 | TUBA1A | c.384G>C (p.Gln128His) c.279G>C (p.Gln93His) n.1417G>C c.407G>C (p.Ser136Thr) c.536G>C (p.Ser179Thr) | |
| 12 | g.49185982C>T | CA6550254 | TUBA1A | c.384G>A (p.Gln128=) c.279G>A (p.Gln93=) n.1417G>A c.407G>A (p.Ser136Asn) c.536G>A (p.Ser179Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185983T>A | CA384642883 | TUBA1A | c.383A>T (p.Gln128Leu) c.278A>T (p.Gln93Leu) n.1416A>T c.406A>T (p.Ser136Cys) c.535A>T (p.Ser179Cys) | |
| 12 | g.49185983T>C | CA384642881 | TUBA1A | c.383A>G (p.Gln128Arg) c.278A>G (p.Gln93Arg) n.1416A>G c.406A>G (p.Ser136Gly) c.535A>G (p.Ser179Gly) | |
| 12 | g.49185983T>G | CA384642879 | TUBA1A | c.383A>C (p.Gln128Pro) c.278A>C (p.Gln93Pro) n.1416A>C c.406A>C (p.Ser136Arg) c.535A>C (p.Ser179Arg) | |
| 12 | g.49185984G>A | CA384642886 | TUBA1A | c.382C>T (p.Gln128Ter) c.277C>T (p.Gln93Ter) n.1415C>T c.405C>T (p.Thr135=) c.534C>T (p.Thr178=) | dbSNP |
| 12 | g.49185984G>C | CA384642885 | TUBA1A | c.382C>G (p.Gln128Glu) c.277C>G (p.Gln93Glu) n.1415C>G c.405C>G (p.Thr135=) c.534C>G (p.Thr178=) | ClinVar |
| 12 | g.49185984G= | CA2035023231 | TUBA1A | c.382C= (p.Gln128=) c.277C= (p.Gln93=) n.1415C= c.405C= (p.Thr135=) c.534C= (p.Thr178=) | |
| 12 | g.49185984G>T | CA384642887 | TUBA1A | c.382C>A (p.Gln128Lys) c.277C>A (p.Gln93Lys) n.1415C>A c.405C>A (p.Thr135=) c.534C>A (p.Thr178=) | COSMIC |
| 12 | g.49185985G>A | CA384642890 | TUBA1A | c.381C>T (p.Asp127=) c.276C>T (p.Asp92=) n.1414C>T c.404C>T (p.Thr135Ile) c.533C>T (p.Thr178Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185985G>C | CA384642891 | TUBA1A | c.381C>G (p.Asp127Glu) c.276C>G (p.Asp92Glu) n.1414C>G c.404C>G (p.Thr135Ser) c.533C>G (p.Thr178Ser) | |
| 12 | g.49185985G= | CA2035023234 | TUBA1A | c.381C= (p.Asp127=) c.276C= (p.Asp92=) n.1414C= c.404C= (p.Thr135=) c.533C= (p.Thr178=) | |
| 12 | g.49185985G>T | CA384642893 | TUBA1A | c.381C>A (p.Asp127Glu) c.276C>A (p.Asp92Glu) n.1414C>A c.404C>A (p.Thr135Asn) c.533C>A (p.Thr178Asn) | ClinVar dbSNP |
| 12 | g.49185986T>A | CA384642895 | TUBA1A | c.380A>T (p.Asp127Val) c.275A>T (p.Asp92Val) n.1413A>T c.403A>T (p.Thr135Ser) c.532A>T (p.Thr178Ser) | |
| 12 | g.49185986T>C | CA384642896 | TUBA1A | c.380A>G (p.Asp127Gly) c.275A>G (p.Asp92Gly) n.1413A>G c.403A>G (p.Thr135Ala) c.532A>G (p.Thr178Ala) | |
| 12 | g.49185986T>G | CA384642897 | TUBA1A | c.380A>C (p.Asp127Ala) c.275A>C (p.Asp92Ala) n.1413A>C c.403A>C (p.Thr135Pro) c.532A>C (p.Thr178Pro) | |
| 12 | g.49185987C>A | CA384642899 | TUBA1A | c.379G>T (p.Asp127Tyr) c.274G>T (p.Asp92Tyr) n.1412G>T c.402G>T (p.Pro134=) c.531G>T (p.Pro177=) | gnomAD v4 |
| 12 | g.49185987C= | CA2035023238 | TUBA1A | c.379G= (p.Asp127=) c.274G= (p.Asp92=) n.1412G= c.402G= (p.Pro134=) c.531G= (p.Pro177=) | |
| 12 | g.49185987C>G | CA384642900 | TUBA1A | c.379G>C (p.Asp127His) c.274G>C (p.Asp92His) n.1412G>C c.402G>C (p.Pro134=) c.531G>C (p.Pro177=) | |
| 12 | g.49185987C>T | CA384642902 | TUBA1A | c.379G>A (p.Asp127Asn) c.274G>A (p.Asp92Asn) n.1412G>A c.402G>A (p.Pro134=) c.531G>A (p.Pro177=) | ClinVar dbSNP COSMIC |
| 12 | g.49185988G>A | CA6550255 | TUBA1A | c.378C>T (p.Ala126=) c.273C>T (p.Ala91=) n.1411C>T c.401C>T (p.Pro134Leu) c.530C>T (p.Pro177Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185988G>C | CA384642904 | TUBA1A | c.378C>G (p.Ala126=) c.273C>G (p.Ala91=) n.1411C>G c.401C>G (p.Pro134Arg) c.530C>G (p.Pro177Arg) | ClinVar dbSNP gnomAD v4 |
| 12 | g.49185988G= | CA2035023242 | TUBA1A | c.378C= (p.Ala126=) c.273C= (p.Ala91=) n.1411C= c.401C= (p.Pro134=) c.530C= (p.Pro177=) | |
| 12 | g.49185988G>T | CA384642905 | TUBA1A | c.378C>A (p.Ala126=) c.273C>A (p.Ala91=) n.1411C>A c.401C>A (p.Pro134Gln) c.530C>A (p.Pro177Gln) |