UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185142G>A | CA6550208 | TUBA1A | c.1224C>T (p.Tyr408=) c.1119C>T (p.Tyr373=) n.2257C>T c.*680C>T (n.*680C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185142G>C | CA384634460 | TUBA1A | c.1224C>G (p.Tyr408Ter) c.1119C>G (p.Tyr373Ter) n.2257C>G c.*680C>G (n.*680C>G) | |
| 12 | g.49185142G= | CA2035021958 | TUBA1A | c.1224C= (p.Tyr408=) c.1119C= (p.Tyr373=) n.2257C= c.*680C= (n.*680C=) | |
| 12 | g.49185142G>T | CA250399 | TUBA1A | c.1224C>A (p.Tyr408Ter) c.1119C>A (p.Tyr373Ter) n.2257C>A c.*680C>A (n.*680C>A) | ClinVar dbSNP |
| 12 | g.49185143T>A | CA384634481 | TUBA1A | c.1223A>T (p.Tyr408Phe) c.1118A>T (p.Tyr373Phe) n.2256A>T c.*679A>T (n.*679A>T) | |
| 12 | g.49185143T>C | CA384634482 | TUBA1A | c.1223A>G (p.Tyr408Cys) c.1118A>G (p.Tyr373Cys) n.2256A>G c.*679A>G (n.*679A>G) | |
| 12 | g.49185143T>G | CA384634486 | TUBA1A | c.1223A>C (p.Tyr408Ser) c.1118A>C (p.Tyr373Ser) n.2256A>C c.*679A>C (n.*679A>C) | |
| 12 | g.49185144A>C | CA384634490 | TUBA1A | c.1222T>G (p.Tyr408Asp) c.1117T>G (p.Tyr373Asp) n.2255T>G c.*678T>G (n.*678T>G) | ClinVar dbSNP |
| 12 | g.49185144A>G | CA384634498 | TUBA1A | c.1222T>C (p.Tyr408His) c.1117T>C (p.Tyr373His) n.2255T>C c.*678T>C (n.*678T>C) | |
| 12 | g.49185144A>T | CA384634502 | TUBA1A | c.1222T>A (p.Tyr408Asn) c.1117T>A (p.Tyr373Asn) n.2255T>A c.*678T>A (n.*678T>A) | |
| 12 | g.49185145C>A | CA384634507 | TUBA1A | c.1221G>T (p.Trp407Cys) c.1116G>T (p.Trp372Cys) n.2254G>T c.*677G>T (n.*677G>T) | |
| 12 | g.49185145C= | CA2035021962 | TUBA1A | c.1221G= (p.Trp407=) c.1116G= (p.Trp372=) n.2254G= c.*677G= (n.*677G=) | |
| 12 | g.49185145C>G | CA384634515 | TUBA1A | c.1221G>C (p.Trp407Cys) c.1116G>C (p.Trp372Cys) n.2254G>C c.*677G>C (n.*677G>C) | |
| 12 | g.49185145C>T | CA384634519 | TUBA1A | c.1221G>A (p.Trp407Ter) c.1116G>A (p.Trp372Ter) n.2254G>A c.*677G>A (n.*677G>A) | dbSNP |
| 12 | g.49185146C>A | CA384634540 | TUBA1A | c.1220G>T (p.Trp407Leu) c.1115G>T (p.Trp372Leu) n.2253G>T c.*676G>T (n.*676G>T) | |
| 12 | g.49185146C= | CA2035021966 | TUBA1A | c.1220G= (p.Trp407=) c.1115G= (p.Trp372=) n.2253G= c.*676G= (n.*676G=) | |
| 12 | g.49185146C>G | CA384634546 | TUBA1A | c.1220G>C (p.Trp407Ser) c.1115G>C (p.Trp372Ser) n.2253G>C c.*676G>C (n.*676G>C) | |
| 12 | g.49185146C>T | CA384634543 | TUBA1A | c.1220G>A (p.Trp407Ter) c.1115G>A (p.Trp372Ter) n.2253G>A c.*676G>A (n.*676G>A) | dbSNP |
| 12 | g.49185147A>C | CA384634549 | TUBA1A | c.1219T>G (p.Trp407Gly) c.1114T>G (p.Trp372Gly) n.2252T>G c.*675T>G (n.*675T>G) | |
| 12 | g.49185147A>G | CA384634562 | TUBA1A | c.1219T>C (p.Trp407Arg) c.1114T>C (p.Trp372Arg) n.2252T>C c.*675T>C (n.*675T>C) | |
| 12 | g.49185147A>T | CA384634563 | TUBA1A | c.1219T>A (p.Trp407Arg) c.1114T>A (p.Trp372Arg) n.2252T>A c.*675T>A (n.*675T>A) | |
| 12 | g.49185148G>A | CA479717086 | TUBA1A | c.1218C>T (p.His406=) c.1113C>T (p.His371=) n.2251C>T c.*674C>T (n.*674C>T) | |
| 12 | g.49185148G>C | CA384634564 | TUBA1A | c.1218C>G (p.His406Gln) c.1113C>G (p.His371Gln) n.2251C>G c.*674C>G (n.*674C>G) | |
| 12 | g.49185148G>T | CA384634568 | TUBA1A | c.1218C>A (p.His406Gln) c.1113C>A (p.His371Gln) n.2251C>A c.*674C>A (n.*674C>A) | |
| 12 | g.49185149T>A | CA384634576 | TUBA1A | c.1217A>T (p.His406Leu) c.1112A>T (p.His371Leu) n.2250A>T c.*673A>T (n.*673A>T) | |
| 12 | g.49185149T>C | CA384634572 | TUBA1A | c.1217A>G (p.His406Arg) c.1112A>G (p.His371Arg) n.2250A>G c.*673A>G (n.*673A>G) | |
| 12 | g.49185149T>G | CA384634570 | TUBA1A | c.1217A>C (p.His406Pro) c.1112A>C (p.His371Pro) n.2250A>C c.*673A>C (n.*673A>C) | |
| 12 | g.49185150G>A | CA384634580 | TUBA1A | c.1216C>T (p.His406Tyr) c.1111C>T (p.His371Tyr) n.2249C>T c.*672C>T (n.*672C>T) | ClinVar dbSNP |
| 12 | g.49185150G>C | CA384634591 | TUBA1A | c.1216C>G (p.His406Asp) c.1111C>G (p.His371Asp) n.2249C>G c.*672C>G (n.*672C>G) | ClinVar dbSNP |
| 12 | g.49185150G= | CA2035021972 | TUBA1A | c.1216C= (p.His406=) c.1111C= (p.His371=) n.2249C= c.*672C= (n.*672C=) | |
| 12 | g.49185150G>T | CA384634598 | TUBA1A | c.1216C>A (p.His406Asn) c.1111C>A (p.His371Asn) n.2249C>A c.*672C>A (n.*672C>A) | |
| 12 | g.49185151A>C | CA479717092 | TUBA1A | c.1215T>G (p.Val405=) c.1110T>G (p.Val370=) n.2248T>G c.*671T>G (n.*671T>G) | gnomAD v4 COSMIC |
| 12 | g.49185151A>G | CA479717095 | TUBA1A | c.1215T>C (p.Val405=) c.1110T>C (p.Val370=) n.2248T>C c.*671T>C (n.*671T>C) | |
| 12 | g.49185151A>T | CA479717093 | TUBA1A | c.1215T>A (p.Val405=) c.1110T>A (p.Val370=) n.2248T>A c.*671T>A (n.*671T>A) | |
| 12 | g.49185152A>C | CA384634601 | TUBA1A | c.1214T>G (p.Val405Gly) c.1109T>G (p.Val370Gly) n.2247T>G c.*670T>G (n.*670T>G) | |
| 12 | g.49185152A>G | CA384634604 | TUBA1A | c.1214T>C (p.Val405Ala) c.1109T>C (p.Val370Ala) n.2247T>C c.*670T>C (n.*670T>C) | |
| 12 | g.49185152A>T | CA384634607 | TUBA1A | c.1214T>A (p.Val405Asp) c.1109T>A (p.Val370Asp) n.2247T>A c.*670T>A (n.*670T>A) | |
| 12 | g.49185153C>A | CA384634608 | TUBA1A | c.1213G>T (p.Val405Phe) c.1108G>T (p.Val370Phe) n.2246G>T c.*669G>T (n.*669G>T) | |
| 12 | g.49185153C>G | CA384634612 | TUBA1A | c.1213G>C (p.Val405Leu) c.1108G>C (p.Val370Leu) n.2246G>C c.*669G>C (n.*669G>C) | |
| 12 | g.49185153C>T | CA384634610 | TUBA1A | c.1213G>A (p.Val405Ile) c.1108G>A (p.Val370Ile) n.2246G>A c.*669G>A (n.*669G>A) | gnomAD v4 |
| 12 | g.49185154A>C | CA384634614 | TUBA1A | c.1212T>G (p.Phe404Leu) c.1107T>G (p.Phe369Leu) n.2245T>G c.*668T>G (n.*668T>G) | |
| 12 | g.49185154A>G | CA479717097 | TUBA1A | c.1212T>C (p.Phe404=) c.1107T>C (p.Phe369=) n.2245T>C c.*668T>C (n.*668T>C) | |
| 12 | g.49185154A>T | CA384634615 | TUBA1A | c.1212T>A (p.Phe404Leu) c.1107T>A (p.Phe369Leu) n.2245T>A c.*668T>A (n.*668T>A) | |
| 12 | g.49185155A>C | CA384634618 | TUBA1A | c.1211T>G (p.Phe404Cys) c.1106T>G (p.Phe369Cys) n.2244T>G c.*667T>G (n.*667T>G) | |
| 12 | g.49185155A>G | CA384634621 | TUBA1A | c.1211T>C (p.Phe404Ser) c.1106T>C (p.Phe369Ser) n.2244T>C c.*667T>C (n.*667T>C) | |
| 12 | g.49185155A>T | CA384634625 | TUBA1A | c.1211T>A (p.Phe404Tyr) c.1106T>A (p.Phe369Tyr) n.2244T>A c.*667T>A (n.*667T>A) | |
| 12 | g.49185156A>C | CA384634631 | TUBA1A | c.1210T>G (p.Phe404Val) c.1105T>G (p.Phe369Val) n.2243T>G c.*666T>G (n.*666T>G) | |
| 12 | g.49185156A>G | CA384634632 | TUBA1A | c.1210T>C (p.Phe404Leu) c.1105T>C (p.Phe369Leu) n.2243T>C c.*666T>C (n.*666T>C) | |
| 12 | g.49185156A>T | CA384634637 | TUBA1A | c.1210T>A (p.Phe404Ile) c.1105T>A (p.Phe369Ile) n.2243T>A c.*666T>A (n.*666T>A) | |
| 12 | g.49185157G>A | CA479717102 | TUBA1A | c.1209C>T (p.Ala403=) c.1104C>T (p.Ala368=) n.2242C>T c.*665C>T (n.*665C>T) | |
| 12 | g.49185157G>C | CA479717104 | TUBA1A | c.1209C>G (p.Ala403=) c.1104C>G (p.Ala368=) n.2242C>G c.*665C>G (n.*665C>G) | |
| 12 | g.49185157G>T | CA479717107 | TUBA1A | c.1209C>A (p.Ala403=) c.1104C>A (p.Ala368=) n.2242C>A c.*665C>A (n.*665C>A) | |
| 12 | g.49185158G>A | CA384634640 | TUBA1A | c.1208C>T (p.Ala403Val) c.1103C>T (p.Ala368Val) n.2241C>T c.*664C>T (n.*664C>T) | |
| 12 | g.49185158G>C | CA384634642 | TUBA1A | c.1208C>G (p.Ala403Gly) c.1103C>G (p.Ala368Gly) n.2241C>G c.*664C>G (n.*664C>G) | |
| 12 | g.49185158G>T | CA384634648 | TUBA1A | c.1208C>A (p.Ala403Asp) c.1103C>A (p.Ala368Asp) n.2241C>A c.*664C>A (n.*664C>A) | |
| 12 | g.49185159C>A | CA384634656 | TUBA1A | c.1207G>T (p.Ala403Ser) c.1102G>T (p.Ala368Ser) n.2240G>T c.*663G>T (n.*663G>T) | |
| 12 | g.49185159C>G | CA384634650 | TUBA1A | c.1207G>C (p.Ala403Pro) c.1102G>C (p.Ala368Pro) n.2240G>C c.*663G>C (n.*663G>C) | |
| 12 | g.49185159C>T | CA384634654 | TUBA1A | c.1207G>A (p.Ala403Thr) c.1102G>A (p.Ala368Thr) n.2240G>A c.*663G>A (n.*663G>A) | |
| 12 | g.49185160A>C | CA479717113 | TUBA1A | c.1206T>G (p.Arg402=) c.1101T>G (p.Arg367=) n.2239T>G c.*662T>G (n.*662T>G) | |
| 12 | g.49185160A>G | CA479717114 | TUBA1A | c.1206T>C (p.Arg402=) c.1101T>C (p.Arg367=) n.2239T>C c.*662T>C (n.*662T>C) | |
| 12 | g.49185160A>T | CA479717111 | TUBA1A | c.1206T>A (p.Arg402=) c.1101T>A (p.Arg367=) n.2239T>A c.*662T>A (n.*662T>A) | |
| 12 | g.49185161C>A | CA213258 | TUBA1A | c.1205G>T (p.Arg402Leu) c.1100G>T (p.Arg367Leu) n.2238G>T c.*661G>T (n.*661G>T) | ClinVar dbSNP |
| 12 | g.49185161C= | CA2035021982 | TUBA1A | c.1205G= (p.Arg402=) c.1100G= (p.Arg367=) n.2238G= c.*661G= (n.*661G=) | |
| 12 | g.49185161C>G | CA384634666 | TUBA1A | c.1205G>C (p.Arg402Pro) c.1100G>C (p.Arg367Pro) n.2238G>C c.*661G>C (n.*661G>C) | |
| 12 | g.49185161C>T | CA213154 | TUBA1A | c.1205G>A (p.Arg402His) c.1100G>A (p.Arg367His) n.2238G>A c.*661G>A (n.*661G>A) | ClinVar dbSNP COSMIC |
| 12 | g.49185162G>A | CA213256 | TUBA1A | c.1204C>T (p.Arg402Cys) c.1099C>T (p.Arg367Cys) n.2237C>T c.*660C>T (n.*660C>T) | ClinVar dbSNP |
| 12 | g.49185162G>C | CA384634670 | TUBA1A | c.1204C>G (p.Arg402Gly) c.1099C>G (p.Arg367Gly) n.2237C>G c.*660C>G (n.*660C>G) | ClinVar |
| 12 | g.49185162G= | CA2035022005 | TUBA1A | c.1204C= (p.Arg402=) c.1099C= (p.Arg367=) n.2237C= c.*660C= (n.*660C=) | |
| 12 | g.49185162G>T | CA213254 | TUBA1A | c.1204C>A (p.Arg402Ser) c.1099C>A (p.Arg367Ser) n.2237C>A c.*660C>A (n.*660C>A) | ClinVar dbSNP |
| 12 | g.49185163T>A | CA384634676 | TUBA1A | c.1203A>T (p.Lys401Asn) c.1098A>T (p.Lys366Asn) n.2236A>T c.*659A>T (n.*659A>T) | |
| 12 | g.49185163T>C | CA173747 | TUBA1A | c.1203A>G (p.Lys401=) c.1098A>G (p.Lys366=) n.2236A>G c.*659A>G (n.*659A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185163T>G | CA384634680 | TUBA1A | c.1203A>C (p.Lys401Asn) c.1098A>C (p.Lys366Asn) n.2236A>C c.*659A>C (n.*659A>C) | |
| 12 | g.49185163T= | CA2035022009 | TUBA1A | c.1203A= (p.Lys401=) c.1098A= (p.Lys366=) n.2236A= c.*659A= (n.*659A=) | |
| 12 | g.49185164T>A | CA384634686 | TUBA1A | c.1202A>T (p.Lys401Ile) c.1097A>T (p.Lys366Ile) n.2235A>T c.*658A>T (n.*658A>T) | |
| 12 | g.49185164T>C | CA384634689 | TUBA1A | c.1202A>G (p.Lys401Arg) c.1097A>G (p.Lys366Arg) n.2235A>G c.*658A>G (n.*658A>G) | |
| 12 | g.49185164T>G | CA384634691 | TUBA1A | c.1202A>C (p.Lys401Thr) c.1097A>C (p.Lys366Thr) n.2235A>C c.*658A>C (n.*658A>C) | |
| 12 | g.49185165T>A | CA384634694 | TUBA1A | c.1201A>T (p.Lys401Ter) c.1096A>T (p.Lys366Ter) n.2234A>T c.*657A>T (n.*657A>T) | dbSNP |
| 12 | g.49185165T>C | CA384634698 | TUBA1A | c.1201A>G (p.Lys401Glu) c.1096A>G (p.Lys366Glu) n.2234A>G c.*657A>G (n.*657A>G) | |
| 12 | g.49185165T>G | CA384634700 | TUBA1A | c.1201A>C (p.Lys401Gln) c.1096A>C (p.Lys366Gln) n.2234A>C c.*657A>C (n.*657A>C) | |
| 12 | g.49185165T= | CA2035022017 | TUBA1A | c.1201A= (p.Lys401=) c.1096A= (p.Lys366=) n.2234A= c.*657A= (n.*657A=) | |
| 12 | g.49185166G>A | CA479717122 | TUBA1A | c.1200C>T (p.Ala400=) c.1095C>T (p.Ala365=) n.2233C>T c.*656C>T (n.*656C>T) | |
| 12 | g.49185166G>C | CA479717123 | TUBA1A | c.1200C>G (p.Ala400=) c.1095C>G (p.Ala365=) n.2233C>G c.*656C>G (n.*656C>G) | |
| 12 | g.49185166G>T | CA479717124 | TUBA1A | c.1200C>A (p.Ala400=) c.1095C>A (p.Ala365=) n.2233C>A c.*656C>A (n.*656C>A) | |
| 12 | g.49185167G>A | CA384634711 | TUBA1A | c.1199C>T (p.Ala400Val) c.1094C>T (p.Ala365Val) n.2232C>T c.*655C>T (n.*655C>T) | COSMIC |
| 12 | g.49185167G>C | CA384634705 | TUBA1A | c.1199C>G (p.Ala400Gly) c.1094C>G (p.Ala365Gly) n.2232C>G c.*655C>G (n.*655C>G) | |
| 12 | g.49185167G>T | CA384634708 | TUBA1A | c.1199C>A (p.Ala400Asp) c.1094C>A (p.Ala365Asp) n.2232C>A c.*655C>A (n.*655C>A) | |
| 12 | g.49185168C>A | CA384634724 | TUBA1A | c.1198G>T (p.Ala400Ser) c.1093G>T (p.Ala365Ser) n.2231G>T c.*654G>T (n.*654G>T) | |
| 12 | g.49185168C>G | CA384634742 | TUBA1A | c.1198G>C (p.Ala400Pro) c.1093G>C (p.Ala365Pro) n.2231G>C c.*654G>C (n.*654G>C) | |
| 12 | g.49185168C>T | CA384634746 | TUBA1A | c.1198G>A (p.Ala400Thr) c.1093G>A (p.Ala365Thr) n.2231G>A c.*654G>A (n.*654G>A) | gnomAD v4 |
| 12 | g.49185169A>C | CA384634748 | TUBA1A | c.1197T>G (p.Tyr399Ter) c.1092T>G (p.Tyr364Ter) n.2230T>G c.*653T>G (n.*653T>G) | |
| 12 | g.49185169A>G | CA479717130 | TUBA1A | c.1197T>C (p.Tyr399=) c.1092T>C (p.Tyr364=) n.2230T>C c.*653T>C (n.*653T>C) | |
| 12 | g.49185169A>T | CA384634749 | TUBA1A | c.1197T>A (p.Tyr399Ter) c.1092T>A (p.Tyr364Ter) n.2230T>A c.*653T>A (n.*653T>A) | |
| 12 | g.49185170T>A | CA384634752 | TUBA1A | c.1196A>T (p.Tyr399Phe) c.1091A>T (p.Tyr364Phe) n.2229A>T c.*652A>T (n.*652A>T) | |
| 12 | g.49185170T>C | CA384634753 | TUBA1A | c.1196A>G (p.Tyr399Cys) c.1091A>G (p.Tyr364Cys) n.2229A>G c.*652A>G (n.*652A>G) | |
| 12 | g.49185170T>G | CA384634755 | TUBA1A | c.1196A>C (p.Tyr399Ser) c.1091A>C (p.Tyr364Ser) n.2229A>C c.*652A>C (n.*652A>C) | |
| 12 | g.49185171A>C | CA384634759 | TUBA1A | c.1195T>G (p.Tyr399Asp) c.1090T>G (p.Tyr364Asp) n.2228T>G c.*651T>G (n.*651T>G) | |
| 12 | g.49185171A>G | CA384634763 | TUBA1A | c.1195T>C (p.Tyr399His) c.1090T>C (p.Tyr364His) n.2228T>C c.*651T>C (n.*651T>C) | |
| 12 | g.49185171A>T | CA384634767 | TUBA1A | c.1195T>A (p.Tyr399Asn) c.1090T>A (p.Tyr364Asn) n.2228T>A c.*651T>A (n.*651T>A) | |
| 12 | g.49185172C>A | CA384634777 | TUBA1A | c.1194G>T (p.Met398Ile) c.1089G>T (p.Met363Ile) n.2227G>T c.*650G>T (n.*650G>T) | |
| 12 | g.49185172C>G | CA384634774 | TUBA1A | c.1194G>C (p.Met398Ile) c.1089G>C (p.Met363Ile) n.2227G>C c.*650G>C (n.*650G>C) | |
| 12 | g.49185172C>T | CA384634771 | TUBA1A | c.1194G>A (p.Met398Ile) c.1089G>A (p.Met363Ile) n.2227G>A c.*650G>A (n.*650G>A) | dbSNP gnomAD v4 |
| 12 | g.49185173A= | CA2035022021 | TUBA1A | c.1193T= (p.Met398=) c.1088T= (p.Met363=) n.2226T= c.*649T= (n.*649T=) | |
| 12 | g.49185173A>C | CA384634818 | TUBA1A | c.1193T>G (p.Met398Arg) c.1088T>G (p.Met363Arg) n.2226T>G c.*649T>G (n.*649T>G) | ClinVar dbSNP |
| 12 | g.49185173A>G | CA384634790 | TUBA1A | c.1193T>C (p.Met398Thr) c.1088T>C (p.Met363Thr) n.2226T>C c.*649T>C (n.*649T>C) | |
| 12 | g.49185173A>T | CA384634794 | TUBA1A | c.1193T>A (p.Met398Lys) c.1088T>A (p.Met363Lys) n.2226T>A c.*649T>A (n.*649T>A) | |
| 12 | g.49185174T>A | CA384634820 | TUBA1A | c.1192A>T (p.Met398Leu) c.1087A>T (p.Met363Leu) n.2225A>T c.*648A>T (n.*648A>T) | gnomAD v4 |
| 12 | g.49185174T>C | CA384634823 | TUBA1A | c.1192A>G (p.Met398Val) c.1087A>G (p.Met363Val) n.2225A>G c.*648A>G (n.*648A>G) | |
| 12 | g.49185174T>G | CA384634840 | TUBA1A | c.1192A>C (p.Met398Leu) c.1087A>C (p.Met363Leu) n.2225A>C c.*648A>C (n.*648A>C) | |
| 12 | g.49185175C>A | CA479717141 | TUBA1A | c.1191G>T (p.Leu397=) c.1086G>T (p.Leu362=) n.2224G>T c.*647G>T (n.*647G>T) | |
| 12 | g.49185175C>G | CA479717142 | TUBA1A | c.1191G>C (p.Leu397=) c.1086G>C (p.Leu362=) n.2224G>C c.*647G>C (n.*647G>C) | |
| 12 | g.49185175C>T | CA479717144 | TUBA1A | c.1191G>A (p.Leu397=) c.1086G>A (p.Leu362=) n.2224G>A c.*647G>A (n.*647G>A) | |
| 12 | g.49185176A= | CA2035022024 | TUBA1A | c.1190T= (p.Leu397=) c.1085T= (p.Leu362=) n.2223T= c.*646T= (n.*646T=) | |
| 12 | g.49185176A>C | CA384634845 | TUBA1A | c.1190T>G (p.Leu397Arg) c.1085T>G (p.Leu362Arg) n.2223T>G c.*646T>G (n.*646T>G) | |
| 12 | g.49185176A>G | CA213162 | TUBA1A | c.1190T>C (p.Leu397Pro) c.1085T>C (p.Leu362Pro) n.2223T>C c.*646T>C (n.*646T>C) | ClinVar dbSNP |
| 12 | g.49185176A>T | CA384634853 | TUBA1A | c.1190T>A (p.Leu397Gln) c.1085T>A (p.Leu362Gln) n.2223T>A c.*646T>A (n.*646T>A) | |
| 12 | g.49185177G>A | CA479717148 | TUBA1A | c.1189C>T (p.Leu397=) c.1084C>T (p.Leu362=) n.2222C>T c.*645C>T (n.*645C>T) | |
| 12 | g.49185177G>C | CA384634871 | TUBA1A | c.1189C>G (p.Leu397Val) c.1084C>G (p.Leu362Val) n.2222C>G c.*645C>G (n.*645C>G) | |
| 12 | g.49185177G>T | CA384634872 | TUBA1A | c.1189C>A (p.Leu397Met) c.1084C>A (p.Leu362Met) n.2222C>A c.*645C>A (n.*645C>A) | |
| 12 | g.49185178G>A | CA479717151 | TUBA1A | c.1188C>T (p.Asp396=) c.1083C>T (p.Asp361=) n.2221C>T c.*644C>T (n.*644C>T) | gnomAD v4 |
| 12 | g.49185178G>C | CA384634874 | TUBA1A | c.1188C>G (p.Asp396Glu) c.1083C>G (p.Asp361Glu) n.2221C>G c.*644C>G (n.*644C>G) | |
| 12 | g.49185178G>T | CA384634877 | TUBA1A | c.1188C>A (p.Asp396Glu) c.1083C>A (p.Asp361Glu) n.2221C>A c.*644C>A (n.*644C>A) | |
| 12 | g.49185179T>A | CA384634886 | TUBA1A | c.1187A>T (p.Asp396Val) c.1082A>T (p.Asp361Val) n.2220A>T c.*643A>T (n.*643A>T) | |
| 12 | g.49185179T>C | CA384634883 | TUBA1A | c.1187A>G (p.Asp396Gly) c.1082A>G (p.Asp361Gly) n.2220A>G c.*643A>G (n.*643A>G) | |
| 12 | g.49185179T>G | CA384634880 | TUBA1A | c.1187A>C (p.Asp396Ala) c.1082A>C (p.Asp361Ala) n.2220A>C c.*643A>C (n.*643A>C) | |
| 12 | g.49185180C>A | CA384634890 | TUBA1A | c.1186G>T (p.Asp396Tyr) c.1081G>T (p.Asp361Tyr) n.2219G>T c.*642G>T (n.*642G>T) | ClinVar dbSNP |
| 12 | g.49185180C= | CA2035022031 | TUBA1A | c.1186G= (p.Asp396=) c.1081G= (p.Asp361=) n.2219G= c.*642G= (n.*642G=) | |
| 12 | g.49185180C>G | CA384634894 | TUBA1A | c.1186G>C (p.Asp396His) c.1081G>C (p.Asp361His) n.2219G>C c.*642G>C (n.*642G>C) | |
| 12 | g.49185180C>T | CA384634897 | TUBA1A | c.1186G>A (p.Asp396Asn) c.1081G>A (p.Asp361Asn) n.2219G>A c.*642G>A (n.*642G>A) | |
| 12 | g.49185181A>C | CA384634902 | TUBA1A | c.1185T>G (p.Phe395Leu) c.1080T>G (p.Phe360Leu) n.2218T>G c.*641T>G (n.*641T>G) | |
| 12 | g.49185181A>G | CA479717158 | TUBA1A | c.1185T>C (p.Phe395=) c.1080T>C (p.Phe360=) n.2218T>C c.*641T>C (n.*641T>C) | |
| 12 | g.49185181A>T | CA384634905 | TUBA1A | c.1185T>A (p.Phe395Leu) c.1080T>A (p.Phe360Leu) n.2218T>A c.*641T>A (n.*641T>A) | |
| 12 | g.49185182A>C | CA384634910 | TUBA1A | c.1184T>G (p.Phe395Cys) c.1079T>G (p.Phe360Cys) n.2217T>G c.*640T>G (n.*640T>G) | |
| 12 | g.49185182A>G | CA384634913 | TUBA1A | c.1184T>C (p.Phe395Ser) c.1079T>C (p.Phe360Ser) n.2217T>C c.*640T>C (n.*640T>C) | |
| 12 | g.49185182A>T | CA384634916 | TUBA1A | c.1184T>A (p.Phe395Tyr) c.1079T>A (p.Phe360Tyr) n.2217T>A c.*640T>A (n.*640T>A) | |
| 12 | g.49185183A>C | CA384634920 | TUBA1A | c.1183T>G (p.Phe395Val) c.1078T>G (p.Phe360Val) n.2216T>G c.*639T>G (n.*639T>G) | |
| 12 | g.49185183A>G | CA384634924 | TUBA1A | c.1183T>C (p.Phe395Leu) c.1078T>C (p.Phe360Leu) n.2216T>C c.*639T>C (n.*639T>C) | |
| 12 | g.49185183A>T | CA384634928 | TUBA1A | c.1183T>A (p.Phe395Ile) c.1078T>A (p.Phe360Ile) n.2216T>A c.*639T>A (n.*639T>A) | |
| 12 | g.49185184C>A | CA384634945 | TUBA1A | c.1182G>T (p.Lys394Asn) c.1077G>T (p.Lys359Asn) n.2215G>T c.*638G>T (n.*638G>T) | |
| 12 | g.49185184C= | CA2035022040 | TUBA1A | c.1182G= (p.Lys394=) c.1077G= (p.Lys359=) n.2215G= c.*638G= (n.*638G=) | |
| 12 | g.49185184C>G | CA384634955 | TUBA1A | c.1182G>C (p.Lys394Asn) c.1077G>C (p.Lys359Asn) n.2215G>C c.*638G>C (n.*638G>C) | ClinVar dbSNP |
| 12 | g.49185184C>T | CA479717163 | TUBA1A | c.1182G>A (p.Lys394=) c.1077G>A (p.Lys359=) n.2215G>A c.*638G>A (n.*638G>A) | gnomAD v4 |
| 12 | g.49185185T>A | CA384634995 | TUBA1A | c.1181A>T (p.Lys394Met) c.1076A>T (p.Lys359Met) n.2214A>T c.*637A>T (n.*637A>T) | |
| 12 | g.49185185T>C | CA384634991 | TUBA1A | c.1181A>G (p.Lys394Arg) c.1076A>G (p.Lys359Arg) n.2214A>G c.*637A>G (n.*637A>G) | ClinVar dbSNP |
| 12 | g.49185185T>G | CA384634959 | TUBA1A | c.1181A>C (p.Lys394Thr) c.1076A>C (p.Lys359Thr) n.2214A>C c.*637A>C (n.*637A>C) | |
| 12 | g.49185186T>A | CA384634999 | TUBA1A | c.1180A>T (p.Lys394Ter) c.1075A>T (p.Lys359Ter) n.2213A>T c.*636A>T (n.*636A>T) | dbSNP |
| 12 | g.49185186T>C | CA384635006 | TUBA1A | c.1180A>G (p.Lys394Glu) c.1075A>G (p.Lys359Glu) n.2213A>G c.*636A>G (n.*636A>G) | |
| 12 | g.49185186T>G | CA384635009 | TUBA1A | c.1180A>C (p.Lys394Gln) c.1075A>C (p.Lys359Gln) n.2213A>C c.*636A>C (n.*636A>C) | |
| 12 | g.49185186T= | CA2035022043 | TUBA1A | c.1180A= (p.Lys394=) c.1075A= (p.Lys359=) n.2213A= c.*636A= (n.*636A=) | |
| 12 | g.49185188_49185189del | CA2618625229 | TUBA1A | c.1179_1180del (p.His393GlnfsTer3) c.1074_1075del (p.His358GlnfsTer3) n.2212_2213del c.*635_*636del (n.*635_*636del) | gnomAD v4 |
| 12 | g.49185187G>A | CA479717170 | TUBA1A | c.1179C>T (p.His393=) c.1074C>T (p.His358=) n.2212C>T c.*635C>T (n.*635C>T) | |
| 12 | g.49185187G>C | CA384635014 | TUBA1A | c.1179C>G (p.His393Gln) c.1074C>G (p.His358Gln) n.2212C>G c.*635C>G (n.*635C>G) | |
| 12 | g.49185187G>T | CA384635015 | TUBA1A | c.1179C>A (p.His393Gln) c.1074C>A (p.His358Gln) n.2212C>A c.*635C>A (n.*635C>A) | |
| 12 | g.49185188T>A | CA384635016 | TUBA1A | c.1178A>T (p.His393Leu) c.1073A>T (p.His358Leu) n.2211A>T c.*634A>T (n.*634A>T) | |
| 12 | g.49185188T>C | CA384635017 | TUBA1A | c.1178A>G (p.His393Arg) c.1073A>G (p.His358Arg) n.2211A>G c.*634A>G (n.*634A>G) | |
| 12 | g.49185188T>G | CA384635018 | TUBA1A | c.1178A>C (p.His393Pro) c.1073A>C (p.His358Pro) n.2211A>C c.*634A>C (n.*634A>C) | |
| 12 | g.49185189G>A | CA384635021 | TUBA1A | c.1177C>T (p.His393Tyr) c.1072C>T (p.His358Tyr) n.2210C>T c.*633C>T (n.*633C>T) | ClinVar dbSNP |
| 12 | g.49185189G>C | CA384635025 | TUBA1A | c.1177C>G (p.His393Asp) c.1072C>G (p.His358Asp) n.2210C>G c.*633C>G (n.*633C>G) | |
| 12 | g.49185189G= | CA2035022045 | TUBA1A | c.1177C= (p.His393=) c.1072C= (p.His358=) n.2210C= c.*633C= (n.*633C=) | |
| 12 | g.49185189G>T | CA384635023 | TUBA1A | c.1177C>A (p.His393Asn) c.1072C>A (p.His358Asn) n.2210C>A c.*633C>A (n.*633C>A) | |
| 12 | g.49185190G>A | CA479717179 | TUBA1A | c.1176C>T (p.Asp392=) c.1071C>T (p.Asp357=) n.2209C>T c.*632C>T (n.*632C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185190G>C | CA384635040 | TUBA1A | c.1176C>G (p.Asp392Glu) c.1071C>G (p.Asp357Glu) n.2209C>G c.*632C>G (n.*632C>G) | |
| 12 | g.49185190G= | CA2035022049 | TUBA1A | c.1176C= (p.Asp392=) c.1071C= (p.Asp357=) n.2209C= c.*632C= (n.*632C=) | |
| 12 | g.49185190G>T | CA384635048 | TUBA1A | c.1176C>A (p.Asp392Glu) c.1071C>A (p.Asp357Glu) n.2209C>A c.*632C>A (n.*632C>A) | |
| 12 | g.49185191T>A | CA384635052 | TUBA1A | c.1175A>T (p.Asp392Val) c.1070A>T (p.Asp357Val) n.2208A>T c.*631A>T (n.*631A>T) | |
| 12 | g.49185191T>C | CA384635064 | TUBA1A | c.1175A>G (p.Asp392Gly) c.1070A>G (p.Asp357Gly) n.2208A>G c.*631A>G (n.*631A>G) | |
| 12 | g.49185191T>G | CA384635066 | TUBA1A | c.1175A>C (p.Asp392Ala) c.1070A>C (p.Asp357Ala) n.2208A>C c.*631A>C (n.*631A>C) | |
| 12 | g.49185192C>A | CA384635071 | TUBA1A | c.1174G>T (p.Asp392Tyr) c.1069G>T (p.Asp357Tyr) n.2207G>T c.*630G>T (n.*630G>T) | |
| 12 | g.49185192C>G | CA384635091 | TUBA1A | c.1174G>C (p.Asp392His) c.1069G>C (p.Asp357His) n.2207G>C c.*630G>C (n.*630G>C) | |
| 12 | g.49185192C>T | CA384635074 | TUBA1A | c.1174G>A (p.Asp392Asn) c.1069G>A (p.Asp357Asn) n.2207G>A c.*630G>A (n.*630G>A) | |
| 12 | g.49185193C>A | CA479717182 | TUBA1A | c.1173G>T (p.Leu391=) c.1068G>T (p.Leu356=) n.2206G>T c.*629G>T (n.*629G>T) | |
| 12 | g.49185193C>G | CA479717186 | TUBA1A | c.1173G>C (p.Leu391=) c.1068G>C (p.Leu356=) n.2206G>C c.*629G>C (n.*629G>C) | |
| 12 | g.49185193C>T | CA479717188 | TUBA1A | c.1173G>A (p.Leu391=) c.1068G>A (p.Leu356=) n.2206G>A c.*629G>A (n.*629G>A) | gnomAD v4 |
| 12 | g.49185194A>C | CA384635093 | TUBA1A | c.1172T>G (p.Leu391Arg) c.1067T>G (p.Leu356Arg) n.2205T>G c.*628T>G (n.*628T>G) | |
| 12 | g.49185194A>G | CA384635095 | TUBA1A | c.1172T>C (p.Leu391Pro) c.1067T>C (p.Leu356Pro) n.2205T>C c.*628T>C (n.*628T>C) | |
| 12 | g.49185194A>T | CA384635098 | TUBA1A | c.1172T>A (p.Leu391Gln) c.1067T>A (p.Leu356Gln) n.2205T>A c.*628T>A (n.*628T>A) | |
| 12 | g.49185195G>A | CA479717191 | TUBA1A | c.1171C>T (p.Leu391=) c.1066C>T (p.Leu356=) n.2204C>T c.*627C>T (n.*627C>T) | gnomAD v4 |
| 12 | g.49185195G>C | CA384635109 | TUBA1A | c.1171C>G (p.Leu391Val) c.1066C>G (p.Leu356Val) n.2204C>G c.*627C>G (n.*627C>G) | |
| 12 | g.49185195G>T | CA384635113 | TUBA1A | c.1171C>A (p.Leu391Met) c.1066C>A (p.Leu356Met) n.2204C>A c.*627C>A (n.*627C>A) | |
| 12 | g.49185196G>A | CA479717192 | TUBA1A | c.1170C>T (p.Arg390=) c.1065C>T (p.Arg355=) n.2203C>T c.*626C>T (n.*626C>T) | gnomAD v4 COSMIC |
| 12 | g.49185196G>C | CA479717194 | TUBA1A | c.1170C>G (p.Arg390=) c.1065C>G (p.Arg355=) n.2203C>G c.*626C>G (n.*626C>G) | |
| 12 | g.49185196G>T | CA479717198 | TUBA1A | c.1170C>A (p.Arg390=) c.1065C>A (p.Arg355=) n.2203C>A c.*626C>A (n.*626C>A) | |
| 12 | g.49185197C>A | CA384635114 | TUBA1A | c.1169G>T (p.Arg390Leu) c.1064G>T (p.Arg355Leu) n.2202G>T c.*625G>T (n.*625G>T) | |
| 12 | g.49185197C= | CA2035022062 | TUBA1A | c.1169G= (p.Arg390=) c.1064G= (p.Arg355=) n.2202G= c.*625G= (n.*625G=) | |
| 12 | g.49185197C>G | CA16619547 | TUBA1A | c.1169G>C (p.Arg390Pro) c.1064G>C (p.Arg355Pro) n.2202G>C c.*625G>C (n.*625G>C) | ClinVar dbSNP |
| 12 | g.49185197C>T | CA384635115 | TUBA1A | c.1169G>A (p.Arg390His) c.1064G>A (p.Arg355His) n.2202G>A c.*625G>A (n.*625G>A) | ClinVar dbSNP COSMIC |
| 12 | g.49185198G>A | CA16619548 | TUBA1A | c.1168C>T (p.Arg390Cys) c.1063C>T (p.Arg355Cys) n.2201C>T c.*624C>T (n.*624C>T) | ClinVar dbSNP |
| 12 | g.49185198G>C | CA384635119 | TUBA1A | c.1168C>G (p.Arg390Gly) c.1063C>G (p.Arg355Gly) n.2201C>G c.*624C>G (n.*624C>G) | ClinVar dbSNP |
| 12 | g.49185198G= | CA2035022066 | TUBA1A | c.1168C= (p.Arg390=) c.1063C= (p.Arg355=) n.2201C= c.*624C= (n.*624C=) | |
| 12 | g.49185198G>T | CA384635123 | TUBA1A | c.1168C>A (p.Arg390Ser) c.1063C>A (p.Arg355Ser) n.2201C>A c.*624C>A (n.*624C>A) | |
| 12 | g.49185199A= | CA2035022069 | TUBA1A | c.1167T= (p.Ala389=) c.1062T= (p.Ala354=) n.2200T= c.*623T= (n.*623T=) | |
| 12 | g.49185199A>C | CA479717202 | TUBA1A | c.1167T>G (p.Ala389=) c.1062T>G (p.Ala354=) n.2200T>G c.*623T>G (n.*623T>G) | |
| 12 | g.49185199A>G | CA6550209 | TUBA1A | c.1167T>C (p.Ala389=) c.1062T>C (p.Ala354=) n.2200T>C c.*623T>C (n.*623T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185199A>T | CA479717203 | TUBA1A | c.1167T>A (p.Ala389=) c.1062T>A (p.Ala354=) n.2200T>A c.*623T>A (n.*623T>A) | |
| 12 | g.49185200G>A | CA384635150 | TUBA1A | c.1166C>T (p.Ala389Val) c.1061C>T (p.Ala354Val) n.2199C>T c.*622C>T (n.*622C>T) | |
| 12 | g.49185200G>C | CA384635130 | TUBA1A | c.1166C>G (p.Ala389Gly) c.1061C>G (p.Ala354Gly) n.2199C>G c.*622C>G (n.*622C>G) | |
| 12 | g.49185200G>T | CA384635148 | TUBA1A | c.1166C>A (p.Ala389Asp) c.1061C>A (p.Ala354Asp) n.2199C>A c.*622C>A (n.*622C>A) | |
| 12 | g.49185201C>A | CA384635155 | TUBA1A | c.1165G>T (p.Ala389Ser) c.1060G>T (p.Ala354Ser) n.2198G>T c.*621G>T (n.*621G>T) | |
| 12 | g.49185201C>G | CA384635162 | TUBA1A | c.1165G>C (p.Ala389Pro) c.1060G>C (p.Ala354Pro) n.2198G>C c.*621G>C (n.*621G>C) | |
| 12 | g.49185201C>T | CA384635166 | TUBA1A | c.1165G>A (p.Ala389Thr) c.1060G>A (p.Ala354Thr) n.2198G>A c.*621G>A (n.*621G>A) | |
| 12 | g.49185202C>A | CA384635170 | TUBA1A | c.1164G>T (p.Trp388Cys) c.1059G>T (p.Trp353Cys) n.2197G>T c.*620G>T (n.*620G>T) | |
| 12 | g.49185202C>G | CA384635178 | TUBA1A | c.1164G>C (p.Trp388Cys) c.1059G>C (p.Trp353Cys) n.2197G>C c.*620G>C (n.*620G>C) | |
| 12 | g.49185202C>T | CA384635193 | TUBA1A | c.1164G>A (p.Trp388Ter) c.1059G>A (p.Trp353Ter) n.2197G>A c.*620G>A (n.*620G>A) | |
| 12 | g.49185203C>A | CA384635207 | TUBA1A | c.1163G>T (p.Trp388Leu) c.1058G>T (p.Trp353Leu) n.2196G>T c.*619G>T (n.*619G>T) | |
| 12 | g.49185203C>G | CA384635205 | TUBA1A | c.1163G>C (p.Trp388Ser) c.1058G>C (p.Trp353Ser) n.2196G>C c.*619G>C (n.*619G>C) | |
| 12 | g.49185203C>T | CA384635203 | TUBA1A | c.1163G>A (p.Trp388Ter) c.1058G>A (p.Trp353Ter) n.2196G>A c.*619G>A (n.*619G>A) | gnomAD v4 |
| 12 | g.49185204A>C | CA384635209 | TUBA1A | c.1162T>G (p.Trp388Gly) c.1057T>G (p.Trp353Gly) n.2195T>G c.*618T>G (n.*618T>G) | |
| 12 | g.49185204A>G | CA384635211 | TUBA1A | c.1162T>C (p.Trp388Arg) c.1057T>C (p.Trp353Arg) n.2195T>C c.*618T>C (n.*618T>C) | |
| 12 | g.49185204A>T | CA384635214 | TUBA1A | c.1162T>A (p.Trp388Arg) c.1057T>A (p.Trp353Arg) n.2195T>A c.*618T>A (n.*618T>A) | |
| 12 | g.49185205G>A | CA479717209 | TUBA1A | c.1161C>T (p.Ala387=) c.1056C>T (p.Ala352=) n.2194C>T c.*617C>T (n.*617C>T) | |
| 12 | g.49185205G>C | CA479717210 | TUBA1A | c.1161C>G (p.Ala387=) c.1056C>G (p.Ala352=) n.2194C>G c.*617C>G (n.*617C>G) | |
| 12 | g.49185205G>T | CA479717211 | TUBA1A | c.1161C>A (p.Ala387=) c.1056C>A (p.Ala352=) n.2194C>A c.*617C>A (n.*617C>A) | |
| 12 | g.49185206G>A | CA384635218 | TUBA1A | c.1160C>T (p.Ala387Val) c.1055C>T (p.Ala352Val) n.2193C>T c.*616C>T (n.*616C>T) | ClinVar dbSNP |
| 12 | g.49185206G>C | CA384635223 | TUBA1A | c.1160C>G (p.Ala387Gly) c.1055C>G (p.Ala352Gly) n.2193C>G c.*616C>G (n.*616C>G) | |
| 12 | g.49185206G= | CA2035022074 | TUBA1A | c.1160C= (p.Ala387=) c.1055C= (p.Ala352=) n.2193C= c.*616C= (n.*616C=) | |
| 12 | g.49185206G>T | CA384635226 | TUBA1A | c.1160C>A (p.Ala387Asp) c.1055C>A (p.Ala352Asp) n.2193C>A c.*616C>A (n.*616C>A) | |
| 12 | g.49185207C>A | CA384635232 | TUBA1A | c.1159G>T (p.Ala387Ser) c.1054G>T (p.Ala352Ser) n.2192G>T c.*615G>T (n.*615G>T) | |
| 12 | g.49185207C>G | CA384635234 | TUBA1A | c.1159G>C (p.Ala387Pro) c.1054G>C (p.Ala352Pro) n.2192G>C c.*615G>C (n.*615G>C) | |
| 12 | g.49185207C>T | CA384635233 | TUBA1A | c.1159G>A (p.Ala387Thr) c.1054G>A (p.Ala352Thr) n.2192G>A c.*615G>A (n.*615G>A) | |
| 12 | g.49185208C>A | CA384635236 | TUBA1A | c.1158G>T (p.Glu386Asp) c.1053G>T (p.Glu351Asp) n.2191G>T c.*614G>T (n.*614G>T) | |
| 12 | g.49185208C>G | CA384635238 | TUBA1A | c.1158G>C (p.Glu386Asp) c.1053G>C (p.Glu351Asp) n.2191G>C c.*614G>C (n.*614G>C) | |
| 12 | g.49185208C>T | CA479717213 | TUBA1A | c.1158G>A (p.Glu386=) c.1053G>A (p.Glu351=) n.2191G>A c.*614G>A (n.*614G>A) | |
| 12 | g.49185209T>A | CA384635241 | TUBA1A | c.1157A>T (p.Glu386Val) c.1052A>T (p.Glu351Val) n.2190A>T c.*613A>T (n.*613A>T) | |
| 12 | g.49185209T>C | CA384635244 | TUBA1A | c.1157A>G (p.Glu386Gly) c.1052A>G (p.Glu351Gly) n.2190A>G c.*613A>G (n.*613A>G) | |
| 12 | g.49185209T>G | CA384635248 | TUBA1A | c.1157A>C (p.Glu386Ala) c.1052A>C (p.Glu351Ala) n.2190A>C c.*613A>C (n.*613A>C) | |
| 12 | g.49185210C>A | CA384635250 | TUBA1A | c.1156G>T (p.Glu386Ter) c.1051G>T (p.Glu351Ter) n.2189G>T c.*612G>T (n.*612G>T) | |
| 12 | g.49185210C= | CA2035022079 | TUBA1A | c.1156G= (p.Glu386=) c.1051G= (p.Glu351=) n.2189G= c.*612G= (n.*612G=) | |
| 12 | g.49185210C>G | CA384635252 | TUBA1A | c.1156G>C (p.Glu386Gln) c.1051G>C (p.Glu351Gln) n.2189G>C c.*612G>C (n.*612G>C) | |
| 12 | g.49185210C>T | CA384635254 | TUBA1A | c.1156G>A (p.Glu386Lys) c.1051G>A (p.Glu351Lys) n.2189G>A c.*612G>A (n.*612G>A) | ClinVar dbSNP |
| 12 | g.49185211A= | CA2035022081 | TUBA1A | c.1155T= (p.Ala385=) c.1050T= (p.Ala350=) n.2188T= c.*611T= (n.*611T=) | |
| 12 | g.49185211A>C | CA479717216 | TUBA1A | c.1155T>G (p.Ala385=) c.1050T>G (p.Ala350=) n.2188T>G c.*611T>G (n.*611T>G) | |
| 12 | g.49185211A>G | CA479717217 | TUBA1A | c.1155T>C (p.Ala385=) c.1050T>C (p.Ala350=) n.2188T>C c.*611T>C (n.*611T>C) | dbSNP |
| 12 | g.49185211A>T | CA479717219 | TUBA1A | c.1155T>A (p.Ala385=) c.1050T>A (p.Ala350=) n.2188T>A c.*611T>A (n.*611T>A) | |
| 12 | g.49185212G>A | CA384635257 | TUBA1A | c.1154C>T (p.Ala385Val) c.1049C>T (p.Ala350Val) n.2187C>T c.*610C>T (n.*610C>T) | ClinVar |
| 12 | g.49185212G>C | CA384635265 | TUBA1A | c.1154C>G (p.Ala385Gly) c.1049C>G (p.Ala350Gly) n.2187C>G c.*610C>G (n.*610C>G) | |
| 12 | g.49185212G>T | CA384635268 | TUBA1A | c.1154C>A (p.Ala385Asp) c.1049C>A (p.Ala350Asp) n.2187C>A c.*610C>A (n.*610C>A) | |
| 12 | g.49185213C>A | CA384635273 | TUBA1A | c.1153G>T (p.Ala385Ser) c.1048G>T (p.Ala350Ser) n.2186G>T c.*609G>T (n.*609G>T) | |
| 12 | g.49185213C>G | CA384635278 | TUBA1A | c.1153G>C (p.Ala385Pro) c.1048G>C (p.Ala350Pro) n.2186G>C c.*609G>C (n.*609G>C) | |
| 12 | g.49185213C>T | CA384635274 | TUBA1A | c.1153G>A (p.Ala385Thr) c.1048G>A (p.Ala350Thr) n.2186G>A c.*609G>A (n.*609G>A) | |
| 12 | g.49185214A>C | CA384635282 | TUBA1A | c.1152T>G (p.Ile384Met) c.1047T>G (p.Ile349Met) n.2185T>G c.*608T>G (n.*608T>G) | |
| 12 | g.49185214A>G | CA479717225 | TUBA1A | c.1152T>C (p.Ile384=) c.1047T>C (p.Ile349=) n.2185T>C c.*608T>C (n.*608T>C) | |
| 12 | g.49185214A>T | CA479717224 | TUBA1A | c.1152T>A (p.Ile384=) c.1047T>A (p.Ile349=) n.2185T>A c.*608T>A (n.*608T>A) | |
| 12 | g.49185215A= | CA2035022085 | TUBA1A | c.1151T= (p.Ile384=) c.1046T= (p.Ile349=) n.2184T= c.*607T= (n.*607T=) | |
| 12 | g.49185215A>C | CA384635289 | TUBA1A | c.1151T>G (p.Ile384Ser) c.1046T>G (p.Ile349Ser) n.2184T>G c.*607T>G (n.*607T>G) | |
| 12 | g.49185215A>G | CA384635284 | TUBA1A | c.1151T>C (p.Ile384Thr) c.1046T>C (p.Ile349Thr) n.2184T>C c.*607T>C (n.*607T>C) | |
| 12 | g.49185215A>T | CA384635286 | TUBA1A | c.1151T>A (p.Ile384Asn) c.1046T>A (p.Ile349Asn) n.2184T>A c.*607T>A (n.*607T>A) | ClinVar dbSNP |
| 12 | g.49185216T>A | CA384635300 | TUBA1A | c.1150A>T (p.Ile384Phe) c.1045A>T (p.Ile349Phe) n.2183A>T c.*606A>T (n.*606A>T) | |
| 12 | g.49185216T>C | CA384635325 | TUBA1A | c.1150A>G (p.Ile384Val) c.1045A>G (p.Ile349Val) n.2183A>G c.*606A>G (n.*606A>G) | |
| 12 | g.49185216T>G | CA384635330 | TUBA1A | c.1150A>C (p.Ile384Leu) c.1045A>C (p.Ile349Leu) n.2183A>C c.*606A>C (n.*606A>C) | |
| 12 | g.49185217G>A | CA479717230 | TUBA1A | c.1149C>T (p.Ala383=) c.1044C>T (p.Ala348=) n.2182C>T c.*605C>T (n.*605C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185217G>C | CA479717231 | TUBA1A | c.1149C>G (p.Ala383=) c.1044C>G (p.Ala348=) n.2182C>G c.*605C>G (n.*605C>G) | |
| 12 | g.49185217G= | CA2035022087 | TUBA1A | c.1149C= (p.Ala383=) c.1044C= (p.Ala348=) n.2182C= c.*605C= (n.*605C=) | |
| 12 | g.49185217G>T | CA479717232 | TUBA1A | c.1149C>A (p.Ala383=) c.1044C>A (p.Ala348=) n.2182C>A c.*605C>A (n.*605C>A) | |
| 12 | g.49185218G>A | CA210184 | TUBA1A | c.1148C>T (p.Ala383Val) c.1043C>T (p.Ala348Val) n.2181C>T c.*604C>T (n.*604C>T) | ClinVar dbSNP |
| 12 | g.49185218G>C | CA384635340 | TUBA1A | c.1148C>G (p.Ala383Gly) c.1043C>G (p.Ala348Gly) n.2181C>G c.*604C>G (n.*604C>G) | |
| 12 | g.49185218G= | CA2035022091 | TUBA1A | c.1148C= (p.Ala383=) c.1043C= (p.Ala348=) n.2181C= c.*604C= (n.*604C=) | |
| 12 | g.49185218G>T | CA384635354 | TUBA1A | c.1148C>A (p.Ala383Asp) c.1043C>A (p.Ala348Asp) n.2181C>A c.*604C>A (n.*604C>A) | ClinVar dbSNP |
| 12 | g.49185219C>A | CA384635357 | TUBA1A | c.1147G>T (p.Ala383Ser) c.1042G>T (p.Ala348Ser) n.2180G>T c.*603G>T (n.*603G>T) | |
| 12 | g.49185219C>G | CA384635362 | TUBA1A | c.1147G>C (p.Ala383Pro) c.1042G>C (p.Ala348Pro) n.2180G>C c.*603G>C (n.*603G>C) | |
| 12 | g.49185219C>T | CA384635371 | TUBA1A | c.1147G>A (p.Ala383Thr) c.1042G>A (p.Ala348Thr) n.2180G>A c.*603G>A (n.*603G>A) | |
| 12 | g.49185220T>A | CA479717236 | TUBA1A | c.1146A>T (p.Thr382=) c.1041A>T (p.Thr347=) n.2179A>T c.*602A>T (n.*602A>T) | |
| 12 | g.49185220T>C | CA479717237 | TUBA1A | c.1146A>G (p.Thr382=) c.1041A>G (p.Thr347=) n.2179A>G c.*602A>G (n.*602A>G) | |
| 12 | g.49185220T>G | CA479717238 | TUBA1A | c.1146A>C (p.Thr382=) c.1041A>C (p.Thr347=) n.2179A>C c.*602A>C (n.*602A>C) | |
| 12 | g.49185221G>A | CA384635381 | TUBA1A | c.1145C>T (p.Thr382Ile) c.1040C>T (p.Thr347Ile) n.2178C>T c.*601C>T (n.*601C>T) | |
| 12 | g.49185221G>C | CA384635378 | TUBA1A | c.1145C>G (p.Thr382Arg) c.1040C>G (p.Thr347Arg) n.2178C>G c.*601C>G (n.*601C>G) | |
| 12 | g.49185221G>T | CA384635376 | TUBA1A | c.1145C>A (p.Thr382Lys) c.1040C>A (p.Thr347Lys) n.2178C>A c.*601C>A (n.*601C>A) | |
| 12 | g.49185222T>A | CA384635405 | TUBA1A | c.1144A>T (p.Thr382Ser) c.1039A>T (p.Thr347Ser) n.2177A>T c.*600A>T (n.*600A>T) | |
| 12 | g.49185222T>C | CA384635414 | TUBA1A | c.1144A>G (p.Thr382Ala) c.1039A>G (p.Thr347Ala) n.2177A>G c.*600A>G (n.*600A>G) | ClinVar dbSNP |
| 12 | g.49185222T>G | CA384635417 | TUBA1A | c.1144A>C (p.Thr382Pro) c.1039A>C (p.Thr347Pro) n.2177A>C c.*600A>C (n.*600A>C) | |
| 12 | g.49185222T= | CA2035022100 | TUBA1A | c.1144A= (p.Thr382=) c.1039A= (p.Thr347=) n.2177A= c.*600A= (n.*600A=) | |
| 12 | g.49185223G>A | CA479717244 | TUBA1A | c.1143C>T (p.Thr381=) c.1038C>T (p.Thr346=) n.2176C>T c.*599C>T (n.*599C>T) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185223G>C | CA479717242 | TUBA1A | c.1143C>G (p.Thr381=) c.1038C>G (p.Thr346=) n.2176C>G c.*599C>G (n.*599C>G) | |
| 12 | g.49185223G= | CA2035022108 | TUBA1A | c.1143C= (p.Thr381=) c.1038C= (p.Thr346=) n.2176C= c.*599C= (n.*599C=) | |
| 12 | g.49185223G>T | CA479717241 | TUBA1A | c.1143C>A (p.Thr381=) c.1038C>A (p.Thr346=) n.2176C>A c.*599C>A (n.*599C>A) | |
| 12 | g.49185224G>A | CA384635432 | TUBA1A | c.1142C>T (p.Thr381Ile) c.1037C>T (p.Thr346Ile) n.2175C>T c.*598C>T (n.*598C>T) | |
| 12 | g.49185224G>C | CA384635434 | TUBA1A | c.1142C>G (p.Thr381Ser) c.1037C>G (p.Thr346Ser) n.2175C>G c.*598C>G (n.*598C>G) | |
| 12 | g.49185224G>T | CA384635438 | TUBA1A | c.1142C>A (p.Thr381Asn) c.1037C>A (p.Thr346Asn) n.2175C>A c.*598C>A (n.*598C>A) | |
| 12 | g.49185225T>A | CA384635445 | TUBA1A | c.1141A>T (p.Thr381Ser) c.1036A>T (p.Thr346Ser) n.2174A>T c.*597A>T (n.*597A>T) | |
| 12 | g.49185225T>C | CA384635447 | TUBA1A | c.1141A>G (p.Thr381Ala) c.1036A>G (p.Thr346Ala) n.2174A>G c.*597A>G (n.*597A>G) | |
| 12 | g.49185225T>G | CA384635449 | TUBA1A | c.1141A>C (p.Thr381Pro) c.1036A>C (p.Thr346Pro) n.2174A>C c.*597A>C (n.*597A>C) | dbSNP |
| 12 | g.49185225T= | CA2035022109 | TUBA1A | c.1141A= (p.Thr381=) c.1036A= (p.Thr346=) n.2174A= c.*597A= (n.*597A=) | |
| 12 | g.49185226G>A | CA236622343 | TUBA1A | c.1140C>T (p.Asn380=) c.1035C>T (p.Asn345=) n.2173C>T c.*596C>T (n.*596C>T) | dbSNP |
| 12 | g.49185226G>C | CA384635453 | TUBA1A | c.1140C>G (p.Asn380Lys) c.1035C>G (p.Asn345Lys) n.2173C>G c.*596C>G (n.*596C>G) | |
| 12 | g.49185226G= | CA2035022115 | TUBA1A | c.1140C= (p.Asn380=) c.1035C= (p.Asn345=) n.2173C= c.*596C= (n.*596C=) | |
| 12 | g.49185226G>T | CA384635460 | TUBA1A | c.1140C>A (p.Asn380Lys) c.1035C>A (p.Asn345Lys) n.2173C>A c.*596C>A (n.*596C>A) | |
| 12 | g.49185227T>A | CA384635470 | TUBA1A | c.1139A>T (p.Asn380Ile) c.1034A>T (p.Asn345Ile) n.2172A>T c.*595A>T (n.*595A>T) | |
| 12 | g.49185227T>C | CA384635476 | TUBA1A | c.1139A>G (p.Asn380Ser) c.1034A>G (p.Asn345Ser) n.2172A>G c.*595A>G (n.*595A>G) | |
| 12 | g.49185227T>G | CA384635462 | TUBA1A | c.1139A>C (p.Asn380Thr) c.1034A>C (p.Asn345Thr) n.2172A>C c.*595A>C (n.*595A>C) | |
| 12 | g.49185228T>A | CA384635484 | TUBA1A | c.1138A>T (p.Asn380Tyr) c.1033A>T (p.Asn345Tyr) n.2171A>T c.*594A>T (n.*594A>T) | |
| 12 | g.49185228T>C | CA384635489 | TUBA1A | c.1138A>G (p.Asn380Asp) c.1033A>G (p.Asn345Asp) n.2171A>G c.*594A>G (n.*594A>G) | |
| 12 | g.49185228T>G | CA384635493 | TUBA1A | c.1138A>C (p.Asn380His) c.1033A>C (p.Asn345His) n.2171A>C c.*594A>C (n.*594A>C) | |
| 12 | g.49185228T= | CA2035022117 | TUBA1A | c.1138A= (p.Asn380=) c.1033A= (p.Asn345=) n.2171A= c.*594A= (n.*594A=) | |
| 12 | g.49185229G>A | CA479717249 | TUBA1A | c.1137C>T (p.Ser379=) c.1032C>T (p.Ser344=) n.2170C>T c.*593C>T (n.*593C>T) | gnomAD v4 |
| 12 | g.49185229G>C | CA384635508 | TUBA1A | c.1137C>G (p.Ser379Arg) c.1032C>G (p.Ser344Arg) n.2170C>G c.*593C>G (n.*593C>G) | |
| 12 | g.49185229G>T | CA384635511 | TUBA1A | c.1137C>A (p.Ser379Arg) c.1032C>A (p.Ser344Arg) n.2170C>A c.*593C>A (n.*593C>A) | |
| 12 | g.49185229dup | CA605234495 | TUBA1A | c.1137dup (p.Asn380GlnfsTer7) c.1032dup (p.Asn345GlnfsTer7) n.2170dup c.*593dup (n.*593dup) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185230C>A | CA384635518 | TUBA1A | c.1136G>T (p.Ser379Ile) c.1031G>T (p.Ser344Ile) n.2169G>T c.*592G>T (n.*592G>T) | |
| 12 | g.49185230C>G | CA384635520 | TUBA1A | c.1136G>C (p.Ser379Thr) c.1031G>C (p.Ser344Thr) n.2169G>C c.*592G>C (n.*592G>C) | |
| 12 | g.49185230C>T | CA384635527 | TUBA1A | c.1136G>A (p.Ser379Asn) c.1031G>A (p.Ser344Asn) n.2169G>A c.*592G>A (n.*592G>A) | ClinVar COSMIC |
| 12 | g.49185231T>A | CA384635528 | TUBA1A | c.1135A>T (p.Ser379Cys) c.1030A>T (p.Ser344Cys) n.2168A>T c.*591A>T (n.*591A>T) | |
| 12 | g.49185231T>C | CA384635531 | TUBA1A | c.1135A>G (p.Ser379Gly) c.1030A>G (p.Ser344Gly) n.2168A>G c.*591A>G (n.*591A>G) | |
| 12 | g.49185231T>G | CA384635535 | TUBA1A | c.1135A>C (p.Ser379Arg) c.1030A>C (p.Ser344Arg) n.2168A>C c.*591A>C (n.*591A>C) | |
| 12 | g.49185232C>A | CA479717264 | TUBA1A | c.1134G>T (p.Leu378=) c.1029G>T (p.Leu343=) n.2167G>T c.*590G>T (n.*590G>T) | |
| 12 | g.49185232C>G | CA479717265 | TUBA1A | c.1134G>C (p.Leu378=) c.1029G>C (p.Leu343=) n.2167G>C c.*590G>C (n.*590G>C) | |
| 12 | g.49185232C>T | CA479717266 | TUBA1A | c.1134G>A (p.Leu378=) c.1029G>A (p.Leu343=) n.2167G>A c.*590G>A (n.*590G>A) | |
| 12 | g.49185233A>C | CA384635545 | TUBA1A | c.1133T>G (p.Leu378Arg) c.1028T>G (p.Leu343Arg) n.2166T>G c.*589T>G (n.*589T>G) | |
| 12 | g.49185233A>G | CA384635546 | TUBA1A | c.1133T>C (p.Leu378Pro) c.1028T>C (p.Leu343Pro) n.2166T>C c.*589T>C (n.*589T>C) | |
| 12 | g.49185233A>T | CA384635547 | TUBA1A | c.1133T>A (p.Leu378Gln) c.1028T>A (p.Leu343Gln) n.2166T>A c.*589T>A (n.*589T>A) | |
| 12 | g.49185234G>A | CA479717272 | TUBA1A | c.1132C>T (p.Leu378=) c.1027C>T (p.Leu343=) n.2165C>T c.*588C>T (n.*588C>T) | |
| 12 | g.49185234G>C | CA384635548 | TUBA1A | c.1132C>G (p.Leu378Val) c.1027C>G (p.Leu343Val) n.2165C>G c.*588C>G (n.*588C>G) | |
| 12 | g.49185234G>T | CA384635549 | TUBA1A | c.1132C>A (p.Leu378Met) c.1027C>A (p.Leu343Met) n.2165C>A c.*588C>A (n.*588C>A) | |
| 12 | g.49185235C>A | CA384635556 | TUBA1A | c.1131G>T (p.Met377Ile) c.1026G>T (p.Met342Ile) n.2164G>T c.*587G>T (n.*587G>T) | |
| 12 | g.49185235C>G | CA384635563 | TUBA1A | c.1131G>C (p.Met377Ile) c.1026G>C (p.Met342Ile) n.2164G>C c.*587G>C (n.*587G>C) | |
| 12 | g.49185235C>T | CA384635583 | TUBA1A | c.1131G>A (p.Met377Ile) c.1026G>A (p.Met342Ile) n.2164G>A c.*587G>A (n.*587G>A) | |
| 12 | g.49185236A>C | CA384635593 | TUBA1A | c.1130T>G (p.Met377Arg) c.1025T>G (p.Met342Arg) n.2163T>G c.*586T>G (n.*586T>G) | |
| 12 | g.49185236A>G | CA384635607 | TUBA1A | c.1130T>C (p.Met377Thr) c.1025T>C (p.Met342Thr) n.2163T>C c.*586T>C (n.*586T>C) | |
| 12 | g.49185236A>T | CA384635611 | TUBA1A | c.1130T>A (p.Met377Lys) c.1025T>A (p.Met342Lys) n.2163T>A c.*586T>A (n.*586T>A) | |
| 12 | g.49185237T>A | CA384635616 | TUBA1A | c.1129A>T (p.Met377Leu) c.1024A>T (p.Met342Leu) n.2162A>T c.*585A>T (n.*585A>T) | |
| 12 | g.49185237T>C | CA213252 | TUBA1A | c.1129A>G (p.Met377Val) c.1024A>G (p.Met342Val) n.2162A>G c.*585A>G (n.*585A>G) | ClinVar dbSNP |
| 12 | g.49185237T>G | CA384635626 | TUBA1A | c.1129A>C (p.Met377Leu) c.1024A>C (p.Met342Leu) n.2162A>C c.*585A>C (n.*585A>C) | |
| 12 | g.49185237T= | CA2035022123 | TUBA1A | c.1129A= (p.Met377=) c.1024A= (p.Met342=) n.2162A= c.*585A= (n.*585A=) | |
| 12 | g.49185238G>A | CA6550210 | TUBA1A | c.1128C>T (p.Cys376=) c.1023C>T (p.Cys341=) n.2161C>T c.*584C>T (n.*584C>T) | dbSNP ExAC gnomAD v2 |
| 12 | g.49185238G>C | CA384635640 | TUBA1A | c.1128C>G (p.Cys376Trp) c.1023C>G (p.Cys341Trp) n.2161C>G c.*584C>G (n.*584C>G) | |
| 12 | g.49185238G= | CA2035022127 | TUBA1A | c.1128C= (p.Cys376=) c.1023C= (p.Cys341=) n.2161C= c.*584C= (n.*584C=) | |
| 12 | g.49185238G>T | CA384635654 | TUBA1A | c.1128C>A (p.Cys376Ter) c.1023C>A (p.Cys341Ter) n.2161C>A c.*584C>A (n.*584C>A) | |
| 12 | g.49185239C>A | CA384635661 | TUBA1A | c.1127G>T (p.Cys376Phe) c.1022G>T (p.Cys341Phe) n.2160G>T c.*583G>T (n.*583G>T) | |
| 12 | g.49185239C>G | CA384635656 | TUBA1A | c.1127G>C (p.Cys376Ser) c.1022G>C (p.Cys341Ser) n.2160G>C c.*583G>C (n.*583G>C) | |
| 12 | g.49185239C>T | CA384635659 | TUBA1A | c.1127G>A (p.Cys376Tyr) c.1022G>A (p.Cys341Tyr) n.2160G>A c.*583G>A (n.*583G>A) | ClinVar dbSNP |
| 12 | g.49185240A>C | CA384635666 | TUBA1A | c.1126T>G (p.Cys376Gly) c.1021T>G (p.Cys341Gly) n.2159T>G c.*582T>G (n.*582T>G) | |
| 12 | g.49185240A>G | CA384635672 | TUBA1A | c.1126T>C (p.Cys376Arg) c.1021T>C (p.Cys341Arg) n.2159T>C c.*582T>C (n.*582T>C) | |
| 12 | g.49185240A>T | CA384635668 | TUBA1A | c.1126T>A (p.Cys376Ser) c.1021T>A (p.Cys341Ser) n.2159T>A c.*582T>A (n.*582T>A) | |
| 12 | g.49185241C>A | CA479717291 | TUBA1A | c.1125G>T (p.Val375=) c.1020G>T (p.Val340=) n.2158G>T c.*581G>T (n.*581G>T) | gnomAD v4 |
| 12 | g.49185241C>G | CA479717292 | TUBA1A | c.1125G>C (p.Val375=) c.1020G>C (p.Val340=) n.2158G>C c.*581G>C (n.*581G>C) | gnomAD v4 |
| 12 | g.49185241C>T | CA479717294 | TUBA1A | c.1125G>A (p.Val375=) c.1020G>A (p.Val340=) n.2158G>A c.*581G>A (n.*581G>A) | |
| 12 | g.49185242A>C | CA384635675 | TUBA1A | c.1124T>G (p.Val375Gly) c.1019T>G (p.Val340Gly) n.2157T>G c.*580T>G (n.*580T>G) | |
| 12 | g.49185242A>G | CA384635678 | TUBA1A | c.1124T>C (p.Val375Ala) c.1019T>C (p.Val340Ala) n.2157T>C c.*580T>C (n.*580T>C) | |
| 12 | g.49185242A>T | CA384635676 | TUBA1A | c.1124T>A (p.Val375Glu) c.1019T>A (p.Val340Glu) n.2157T>A c.*580T>A (n.*580T>A) |