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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.49185280C>A | CA479716992 | TUBA1A | c.1086G>T (p.Val362=) c.981G>T (p.Val327=) n.2119G>T c.*542G>T (n.*542G>T) | dbSNP |
| 12 | g.49185280C>G | CA479716993 | TUBA1A | c.1086G>C (p.Val362=) c.981G>C (p.Val327=) n.2119G>C c.*542G>C (n.*542G>C) | gnomAD v4 |
| 12 | g.49185280C>T | CA479716994 | TUBA1A | c.1086G>A (p.Val362=) c.981G>A (p.Val327=) n.2119G>A c.*542G>A (n.*542G>A) | |
| 12 | g.49185281A>C | CA384636181 | TUBA1A | c.1085T>G (p.Val362Gly) c.980T>G (p.Val327Gly) n.2118T>G c.*541T>G (n.*541T>G) | |
| 12 | g.49185281A>G | CA384636183 | TUBA1A | c.1085T>C (p.Val362Ala) c.980T>C (p.Val327Ala) n.2118T>C c.*541T>C (n.*541T>C) | |
| 12 | g.49185281A>T | CA384636187 | TUBA1A | c.1085T>A (p.Val362Glu) c.980T>A (p.Val327Glu) n.2118T>A c.*541T>A (n.*541T>A) | |
| 12 | g.49185282C>A | CA384636198 | TUBA1A | c.1084G>T (p.Val362Leu) c.979G>T (p.Val327Leu) n.2117G>T c.*540G>T (n.*540G>T) | |
| 12 | g.49185282C= | CA2035022185 | TUBA1A | c.1084G= (p.Val362=) c.979G= (p.Val327=) n.2117G= c.*540G= (n.*540G=) | |
| 12 | g.49185282C>G | CA384636202 | TUBA1A | c.1084G>C (p.Val362Leu) c.979G>C (p.Val327Leu) n.2117G>C c.*540G>C (n.*540G>C) | ClinVar dbSNP |
| 12 | g.49185282C>T | CA384636205 | TUBA1A | c.1084G>A (p.Val362Met) c.979G>A (p.Val327Met) n.2117G>A c.*540G>A (n.*540G>A) | |
| 12 | g.49185283A= | CA2035022189 | TUBA1A | c.1083T= (p.Thr361=) c.978T= (p.Thr326=) n.2116T= c.*539T= (n.*539T=) | |
| 12 | g.49185283A>C | CA479716998 | TUBA1A | c.1083T>G (p.Thr361=) c.978T>G (p.Thr326=) n.2116T>G c.*539T>G (n.*539T>G) | |
| 12 | g.49185283A>G | CA479716999 | TUBA1A | c.1083T>C (p.Thr361=) c.978T>C (p.Thr326=) n.2116T>C c.*539T>C (n.*539T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185283A>T | CA479717000 | TUBA1A | c.1083T>A (p.Thr361=) c.978T>A (p.Thr326=) n.2116T>A c.*539T>A (n.*539T>A) | |
| 12 | g.49185284G>A | CA384636209 | TUBA1A | c.1082C>T (p.Thr361Ile) c.977C>T (p.Thr326Ile) n.2115C>T c.*538C>T (n.*538C>T) | ClinVar dbSNP |
| 12 | g.49185284G>C | CA384636222 | TUBA1A | c.1082C>G (p.Thr361Ser) c.977C>G (p.Thr326Ser) n.2115C>G c.*538C>G (n.*538C>G) | |
| 12 | g.49185284G= | CA2035022193 | TUBA1A | c.1082C= (p.Thr361=) c.977C= (p.Thr326=) n.2115C= c.*538C= (n.*538C=) | |
| 12 | g.49185284G>T | CA384636218 | TUBA1A | c.1082C>A (p.Thr361Asn) c.977C>A (p.Thr326Asn) n.2115C>A c.*538C>A (n.*538C>A) | |
| 12 | g.49185285T>A | CA384636228 | TUBA1A | c.1081A>T (p.Thr361Ser) c.976A>T (p.Thr326Ser) n.2114A>T c.*537A>T (n.*537A>T) | |
| 12 | g.49185285T>C | CA384636230 | TUBA1A | c.1081A>G (p.Thr361Ala) c.976A>G (p.Thr326Ala) n.2114A>G c.*537A>G (n.*537A>G) | ClinVar |
| 12 | g.49185285T>G | CA384636237 | TUBA1A | c.1081A>C (p.Thr361Pro) c.976A>C (p.Thr326Pro) n.2114A>C c.*537A>C (n.*537A>C) | |
| 12 | g.49185286G>A | CA479717006 | TUBA1A | c.1080C>T (p.Pro360=) c.975C>T (p.Pro325=) n.2113C>T c.*536C>T (n.*536C>T) | |
| 12 | g.49185286G>C | CA479717005 | TUBA1A | c.1080C>G (p.Pro360=) c.975C>G (p.Pro325=) n.2113C>G c.*536C>G (n.*536C>G) | |
| 12 | g.49185286G= | CA2035022196 | TUBA1A | c.1080C= (p.Pro360=) c.975C= (p.Pro325=) n.2113C= c.*536C= (n.*536C=) | |
| 12 | g.49185286G>T | CA479717004 | TUBA1A | c.1080C>A (p.Pro360=) c.975C>A (p.Pro325=) n.2113C>A c.*536C>A (n.*536C>A) | dbSNP |
| 12 | g.49185287G>A | CA384636244 | TUBA1A | c.1079C>T (p.Pro360Leu) c.974C>T (p.Pro325Leu) n.2112C>T c.*535C>T (n.*535C>T) | COSMIC |
| 12 | g.49185287G>C | CA384636248 | TUBA1A | c.1079C>G (p.Pro360Arg) c.974C>G (p.Pro325Arg) n.2112C>G c.*535C>G (n.*535C>G) | |
| 12 | g.49185287G>T | CA384636249 | TUBA1A | c.1079C>A (p.Pro360His) c.974C>A (p.Pro325His) n.2112C>A c.*535C>A (n.*535C>A) | |
| 12 | g.49185288G>A | CA384636250 | TUBA1A | c.1078C>T (p.Pro360Ser) c.973C>T (p.Pro325Ser) n.2111C>T c.*534C>T (n.*534C>T) | ClinVar dbSNP COSMIC |
| 12 | g.49185288G>C | CA384636252 | TUBA1A | c.1078C>G (p.Pro360Ala) c.973C>G (p.Pro325Ala) n.2111C>G c.*534C>G (n.*534C>G) | |
| 12 | g.49185288G>T | CA384636254 | TUBA1A | c.1078C>A (p.Pro360Thr) c.973C>A (p.Pro325Thr) n.2111C>A c.*534C>A (n.*534C>A) | |
| 12 | g.49185289A= | CA2035022200 | TUBA1A | c.1077T= (p.Pro359=) c.972T= (p.Pro324=) n.2110T= c.*533T= (n.*533T=) | |
| 12 | g.49185289A>C | CA479717010 | TUBA1A | c.1077T>G (p.Pro359=) c.972T>G (p.Pro324=) n.2110T>G c.*533T>G (n.*533T>G) | |
| 12 | g.49185289A>G | CA479717009 | TUBA1A | c.1077T>C (p.Pro359=) c.972T>C (p.Pro324=) n.2110T>C c.*533T>C (n.*533T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185289A>T | CA479717008 | TUBA1A | c.1077T>A (p.Pro359=) c.972T>A (p.Pro324=) n.2110T>A c.*533T>A (n.*533T>A) | dbSNP |
| 12 | g.49185290G>A | CA384636262 | TUBA1A | c.1076C>T (p.Pro359Leu) c.971C>T (p.Pro324Leu) n.2109C>T c.*532C>T (n.*532C>T) | ClinVar dbSNP |
| 12 | g.49185290G>C | CA384636265 | TUBA1A | c.1076C>G (p.Pro359Arg) c.971C>G (p.Pro324Arg) n.2109C>G c.*532C>G (n.*532C>G) | |
| 12 | g.49185290G= | CA2035022206 | TUBA1A | c.1076C= (p.Pro359=) c.971C= (p.Pro324=) n.2109C= c.*532C= (n.*532C=) | |
| 12 | g.49185290G>T | CA384636267 | TUBA1A | c.1076C>A (p.Pro359His) c.971C>A (p.Pro324His) n.2109C>A c.*532C>A (n.*532C>A) | |
| 12 | g.49185291G>A | CA384636283 | TUBA1A | c.1075C>T (p.Pro359Ser) c.970C>T (p.Pro324Ser) n.2108C>T c.*531C>T (n.*531C>T) | |
| 12 | g.49185291G>C | CA384636281 | TUBA1A | c.1075C>G (p.Pro359Ala) c.970C>G (p.Pro324Ala) n.2108C>G c.*531C>G (n.*531C>G) | |
| 12 | g.49185291G>T | CA384636274 | TUBA1A | c.1075C>A (p.Pro359Thr) c.970C>A (p.Pro324Thr) n.2108C>A c.*531C>A (n.*531C>A) | COSMIC |
| 12 | g.49185292C>A | CA384636286 | TUBA1A | c.1074G>T (p.Gln358His) c.969G>T (p.Gln323His) n.2107G>T c.*530G>T (n.*530G>T) | |
| 12 | g.49185292C>G | CA384636293 | TUBA1A | c.1074G>C (p.Gln358His) c.969G>C (p.Gln323His) n.2107G>C c.*530G>C (n.*530G>C) | |
| 12 | g.49185292C>T | CA479717011 | TUBA1A | c.1074G>A (p.Gln358=) c.969G>A (p.Gln323=) n.2107G>A c.*530G>A (n.*530G>A) | gnomAD v4 |
| 12 | g.49185293T>A | CA384636303 | TUBA1A | c.1073A>T (p.Gln358Leu) c.968A>T (p.Gln323Leu) n.2106A>T c.*529A>T (n.*529A>T) | |
| 12 | g.49185293T>C | CA384636308 | TUBA1A | c.1073A>G (p.Gln358Arg) c.968A>G (p.Gln323Arg) n.2106A>G c.*529A>G (n.*529A>G) | |
| 12 | g.49185293T>G | CA384636310 | TUBA1A | c.1073A>C (p.Gln358Pro) c.968A>C (p.Gln323Pro) n.2106A>C c.*529A>C (n.*529A>C) | |
| 12 | g.49185294G>A | CA384636327 | TUBA1A | c.1072C>T (p.Gln358Ter) c.967C>T (p.Gln323Ter) n.2105C>T c.*528C>T (n.*528C>T) | |
| 12 | g.49185294G>C | CA384636331 | TUBA1A | c.1072C>G (p.Gln358Glu) c.967C>G (p.Gln323Glu) n.2105C>G c.*528C>G (n.*528C>G) | |
| 12 | g.49185294G>T | CA384636335 | TUBA1A | c.1072C>A (p.Gln358Lys) c.967C>A (p.Gln323Lys) n.2105C>A c.*528C>A (n.*528C>A) | |
| 12 | g.49185295G>A | CA479717013 | TUBA1A | c.1071C>T (p.Tyr357=) c.966C>T (p.Tyr322=) n.2104C>T c.*527C>T (n.*527C>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185295G>C | CA384636338 | TUBA1A | c.1071C>G (p.Tyr357Ter) c.966C>G (p.Tyr322Ter) n.2104C>G c.*527C>G (n.*527C>G) | |
| 12 | g.49185295G= | CA2035022210 | TUBA1A | c.1071C= (p.Tyr357=) c.966C= (p.Tyr322=) n.2104C= c.*527C= (n.*527C=) | |
| 12 | g.49185295G>T | CA384636342 | TUBA1A | c.1071C>A (p.Tyr357Ter) c.966C>A (p.Tyr322Ter) n.2104C>A c.*527C>A (n.*527C>A) | |
| 12 | g.49185296T>A | CA384636343 | TUBA1A | c.1070A>T (p.Tyr357Phe) c.965A>T (p.Tyr322Phe) n.2103A>T c.*526A>T (n.*526A>T) | |
| 12 | g.49185296T>C | CA384636346 | TUBA1A | c.1070A>G (p.Tyr357Cys) c.965A>G (p.Tyr322Cys) n.2103A>G c.*526A>G (n.*526A>G) | ClinVar |
| 12 | g.49185296T>G | CA384636347 | TUBA1A | c.1070A>C (p.Tyr357Ser) c.965A>C (p.Tyr322Ser) n.2103A>C c.*526A>C (n.*526A>C) | |
| 12 | g.49185297A>C | CA384636354 | TUBA1A | c.1069T>G (p.Tyr357Asp) c.964T>G (p.Tyr322Asp) n.2102T>G c.*525T>G (n.*525T>G) | |
| 12 | g.49185297A>G | CA384636349 | TUBA1A | c.1069T>C (p.Tyr357His) c.964T>C (p.Tyr322His) n.2102T>C c.*525T>C (n.*525T>C) | |
| 12 | g.49185297A>T | CA384636348 | TUBA1A | c.1069T>A (p.Tyr357Asn) c.964T>A (p.Tyr322Asn) n.2102T>A c.*525T>A (n.*525T>A) | |
| 12 | g.49185298G>A | CA6550212 | TUBA1A | c.1068C>T (p.Asn356=) c.963C>T (p.Asn321=) n.2101C>T c.*524C>T (n.*524C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185298G>C | CA384636371 | TUBA1A | c.1068C>G (p.Asn356Lys) c.963C>G (p.Asn321Lys) n.2101C>G c.*524C>G (n.*524C>G) | |
| 12 | g.49185298G= | CA2035022214 | TUBA1A | c.1068C= (p.Asn356=) c.963C= (p.Asn321=) n.2101C= c.*524C= (n.*524C=) | |
| 12 | g.49185298G>T | CA384636373 | TUBA1A | c.1068C>A (p.Asn356Lys) c.963C>A (p.Asn321Lys) n.2101C>A c.*524C>A (n.*524C>A) | |
| 12 | g.49185299T>A | CA384636377 | TUBA1A | c.1067A>T (p.Asn356Ile) c.962A>T (p.Asn321Ile) n.2100A>T c.*523A>T (n.*523A>T) | |
| 12 | g.49185299T>C | CA384636379 | TUBA1A | c.1067A>G (p.Asn356Ser) c.962A>G (p.Asn321Ser) n.2100A>G c.*523A>G (n.*523A>G) | |
| 12 | g.49185299T>G | CA384636386 | TUBA1A | c.1067A>C (p.Asn356Thr) c.962A>C (p.Asn321Thr) n.2100A>C c.*523A>C (n.*523A>C) | |
| 12 | g.49185300T>A | CA384636393 | TUBA1A | c.1066A>T (p.Asn356Tyr) c.961A>T (p.Asn321Tyr) n.2099A>T c.*522A>T (n.*522A>T) | COSMIC |
| 12 | g.49185300T>C | CA384636405 | TUBA1A | c.1066A>G (p.Asn356Asp) c.961A>G (p.Asn321Asp) n.2099A>G c.*522A>G (n.*522A>G) | |
| 12 | g.49185300T>G | CA384636423 | TUBA1A | c.1066A>C (p.Asn356His) c.961A>C (p.Asn321His) n.2099A>C c.*522A>C (n.*522A>C) | |
| 12 | g.49185301G>A | CA6550213 | TUBA1A | c.1065C>T (p.Ile355=) c.960C>T (p.Ile320=) n.2098C>T c.*521C>T (n.*521C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185301G>C | CA384636451 | TUBA1A | c.1065C>G (p.Ile355Met) c.960C>G (p.Ile320Met) n.2098C>G c.*521C>G (n.*521C>G) | |
| 12 | g.49185301G= | CA2035022216 | TUBA1A | c.1065C= (p.Ile355=) c.960C= (p.Ile320=) n.2098C= c.*521C= (n.*521C=) | |
| 12 | g.49185301G>T | CA479717016 | TUBA1A | c.1065C>A (p.Ile355=) c.960C>A (p.Ile320=) n.2098C>A c.*521C>A (n.*521C>A) | |
| 12 | g.49185302A>C | CA384636454 | TUBA1A | c.1064T>G (p.Ile355Ser) c.959T>G (p.Ile320Ser) n.2097T>G c.*520T>G (n.*520T>G) | |
| 12 | g.49185302A>G | CA384636460 | TUBA1A | c.1064T>C (p.Ile355Thr) c.959T>C (p.Ile320Thr) n.2097T>C c.*520T>C (n.*520T>C) | |
| 12 | g.49185302A>T | CA384636464 | TUBA1A | c.1064T>A (p.Ile355Asn) c.959T>A (p.Ile320Asn) n.2097T>A c.*520T>A (n.*520T>A) | |
| 12 | g.49185303T>A | CA384636478 | TUBA1A | c.1063A>T (p.Ile355Phe) c.958A>T (p.Ile320Phe) n.2096A>T c.*519A>T (n.*519A>T) | |
| 12 | g.49185303T>C | CA384636469 | TUBA1A | c.1063A>G (p.Ile355Val) c.958A>G (p.Ile320Val) n.2096A>G c.*519A>G (n.*519A>G) | ClinVar |
| 12 | g.49185303T>G | CA384636468 | TUBA1A | c.1063A>C (p.Ile355Leu) c.958A>C (p.Ile320Leu) n.2096A>C c.*519A>C (n.*519A>C) | |
| 12 | g.49185304G>A | CA479717020 | TUBA1A | c.1062C>T (p.Gly354=) c.957C>T (p.Gly319=) n.2095C>T c.*518C>T (n.*518C>T) | dbSNP COSMIC |
| 12 | g.49185304G>C | CA479717019 | TUBA1A | c.1062C>G (p.Gly354=) c.957C>G (p.Gly319=) n.2095C>G c.*518C>G (n.*518C>G) | |
| 12 | g.49185304G= | CA2035022218 | TUBA1A | c.1062C= (p.Gly354=) c.957C= (p.Gly319=) n.2095C= c.*518C= (n.*518C=) | |
| 12 | g.49185304G>T | CA479717017 | TUBA1A | c.1062C>A (p.Gly354=) c.957C>A (p.Gly319=) n.2095C>A c.*518C>A (n.*518C>A) | |
| 12 | g.49185305C>A | CA384636480 | TUBA1A | c.1061G>T (p.Gly354Val) c.956G>T (p.Gly319Val) n.2094G>T c.*517G>T (n.*517G>T) | |
| 12 | g.49185305C= | CA2035022224 | TUBA1A | c.1061G= (p.Gly354=) c.956G= (p.Gly319=) n.2094G= c.*517G= (n.*517G=) | |
| 12 | g.49185305C>G | CA384636483 | TUBA1A | c.1061G>C (p.Gly354Ala) c.956G>C (p.Gly319Ala) n.2094G>C c.*517G>C (n.*517G>C) | |
| 12 | g.49185305C>T | CA384636490 | TUBA1A | c.1061G>A (p.Gly354Asp) c.956G>A (p.Gly319Asp) n.2094G>A c.*517G>A (n.*517G>A) | |
| 12 | g.49185306del | CA2618625230 | TUBA1A | c.1061del (p.Gly354AlafsTer25) c.956del (p.Gly319AlafsTer25) n.2094del c.*517del (n.*517del) | gnomAD v4 |
| 12 | g.49185306C>A | CA384636494 | TUBA1A | c.1060G>T (p.Gly354Cys) c.955G>T (p.Gly319Cys) n.2093G>T c.*516G>T (n.*516G>T) | |
| 12 | g.49185306C>G | CA384636509 | TUBA1A | c.1060G>C (p.Gly354Arg) c.955G>C (p.Gly319Arg) n.2093G>C c.*516G>C (n.*516G>C) | |
| 12 | g.49185306C>T | CA384636512 | TUBA1A | c.1060G>A (p.Gly354Ser) c.955G>A (p.Gly319Ser) n.2093G>A c.*516G>A (n.*516G>A) | |
| 12 | g.49185306_49185307insGC | CA919083057 | TUBA1A | c.1060_1061insCG (p.Gly354AlafsTer26) c.955_956insCG (p.Gly319AlafsTer26) n.2093_2094insCG c.*516_*517insCG (n.*516_*517insCG) | dbSNP |
| 12 | g.49185307A>C | CA479717022 | TUBA1A | c.1059T>G (p.Val353=) c.954T>G (p.Val318=) n.2092T>G c.*515T>G (n.*515T>G) | |
| 12 | g.49185307A>G | CA479717025 | TUBA1A | c.1059T>C (p.Val353=) c.954T>C (p.Val318=) n.2092T>C c.*515T>C (n.*515T>C) | gnomAD v4 |
| 12 | g.49185307A>T | CA479717023 | TUBA1A | c.1059T>A (p.Val353=) c.954T>A (p.Val318=) n.2092T>A c.*515T>A (n.*515T>A) | gnomAD v3 gnomAD v4 |
| 12 | g.49185307_49185309delinsAAC | CA2035022230 | TUBA1A | c.1057_1059delinsGTT (p.Val353=) c.952_954delinsGTT (p.Val318=) n.2090_2092delinsGTT c.*513_*515delinsGTT (n.*513_*515delinsGTT) | |
| 12 | g.49185308A= | CA2035022233 | TUBA1A | c.1058T= (p.Val353=) c.953T= (p.Val318=) n.2091T= c.*514T= (n.*514T=) | |
| 12 | g.49185308A>C | CA384636517 | TUBA1A | c.1058T>G (p.Val353Gly) c.953T>G (p.Val318Gly) n.2091T>G c.*514T>G (n.*514T>G) | dbSNP |
| 12 | g.49185308A>G | CA384636518 | TUBA1A | c.1058T>C (p.Val353Ala) c.953T>C (p.Val318Ala) n.2091T>C c.*514T>C (n.*514T>C) | |
| 12 | g.49185308A>T | CA384636519 | TUBA1A | c.1058T>A (p.Val353Asp) c.953T>A (p.Val318Asp) n.2091T>A c.*514T>A (n.*514T>A) | |
| 12 | g.49185308_49185309del | CA919083060 | TUBA1A | c.1057_1058del (p.Val353TrpfsTer?) c.952_953del (p.Val318TrpfsTer?) n.2090_2091del c.*513_*514del (n.*513_*514del) | dbSNP |
| 12 | g.49185309C>A | CA384636521 | TUBA1A | c.1057G>T (p.Val353Phe) c.952G>T (p.Val318Phe) n.2090G>T c.*513G>T (n.*513G>T) | |
| 12 | g.49185309C= | CA2035022235 | TUBA1A | c.1057G= (p.Val353=) c.952G= (p.Val318=) n.2090G= c.*513G= (n.*513G=) | |
| 12 | g.49185309C>G | CA384636524 | TUBA1A | c.1057G>C (p.Val353Leu) c.952G>C (p.Val318Leu) n.2090G>C c.*513G>C (n.*513G>C) | |
| 12 | g.49185309C>T | CA384636528 | TUBA1A | c.1057G>A (p.Val353Ile) c.952G>A (p.Val318Ile) n.2090G>A c.*513G>A (n.*513G>A) | ClinVar dbSNP |
| 12 | g.49185310C>A | CA384636537 | TUBA1A | c.1056G>T (p.Lys352Asn) c.951G>T (p.Lys317Asn) n.2089G>T c.*512G>T (n.*512G>T) | |
| 12 | g.49185310C= | CA2035022238 | TUBA1A | c.1056G= (p.Lys352=) c.951G= (p.Lys317=) n.2089G= c.*512G= (n.*512G=) | |
| 12 | g.49185310C>G | CA384636540 | TUBA1A | c.1056G>C (p.Lys352Asn) c.951G>C (p.Lys317Asn) n.2089G>C c.*512G>C (n.*512G>C) | ClinVar |
| 12 | g.49185310C>T | CA479717028 | TUBA1A | c.1056G>A (p.Lys352=) c.951G>A (p.Lys317=) n.2089G>A c.*512G>A (n.*512G>A) | dbSNP |
| 12 | g.49185311T>A | CA384636549 | TUBA1A | c.1055A>T (p.Lys352Met) c.950A>T (p.Lys317Met) n.2088A>T c.*511A>T (n.*511A>T) | ClinVar dbSNP |
| 12 | g.49185311T>C | CA384636551 | TUBA1A | c.1055A>G (p.Lys352Arg) c.950A>G (p.Lys317Arg) n.2088A>G c.*511A>G (n.*511A>G) | |
| 12 | g.49185311T>G | CA384636547 | TUBA1A | c.1055A>C (p.Lys352Thr) c.950A>C (p.Lys317Thr) n.2088A>C c.*511A>C (n.*511A>C) | |
| 12 | g.49185311T= | CA2035022244 | TUBA1A | c.1055A= (p.Lys352=) c.950A= (p.Lys317=) n.2088A= c.*511A= (n.*511A=) | |
| 12 | g.49185312T>A | CA384636557 | TUBA1A | c.1054A>T (p.Lys352Ter) c.949A>T (p.Lys317Ter) n.2087A>T c.*510A>T (n.*510A>T) | gnomAD v4 |
| 12 | g.49185312T>C | CA384636561 | TUBA1A | c.1054A>G (p.Lys352Glu) c.949A>G (p.Lys317Glu) n.2087A>G c.*510A>G (n.*510A>G) | |
| 12 | g.49185312T>G | CA384636563 | TUBA1A | c.1054A>C (p.Lys352Gln) c.949A>C (p.Lys317Gln) n.2087A>C c.*510A>C (n.*510A>C) | |
| 12 | g.49185313G>A | CA479717031 | TUBA1A | c.1053C>T (p.Phe351=) c.948C>T (p.Phe316=) n.2086C>T c.*509C>T (n.*509C>T) | dbSNP |
| 12 | g.49185313G>C | CA384636566 | TUBA1A | c.1053C>G (p.Phe351Leu) c.948C>G (p.Phe316Leu) n.2086C>G c.*509C>G (n.*509C>G) | |
| 12 | g.49185313G>T | CA384636579 | TUBA1A | c.1053C>A (p.Phe351Leu) c.948C>A (p.Phe316Leu) n.2086C>A c.*509C>A (n.*509C>A) | |
| 12 | g.49185314A>C | CA384636593 | TUBA1A | c.1052T>G (p.Phe351Cys) c.947T>G (p.Phe316Cys) n.2085T>G c.*508T>G (n.*508T>G) | |
| 12 | g.49185314A>G | CA384636589 | TUBA1A | c.1052T>C (p.Phe351Ser) c.947T>C (p.Phe316Ser) n.2085T>C c.*508T>C (n.*508T>C) | |
| 12 | g.49185314A>T | CA384636583 | TUBA1A | c.1052T>A (p.Phe351Tyr) c.947T>A (p.Phe316Tyr) n.2085T>A c.*508T>A (n.*508T>A) | |
| 12 | g.49185315A>C | CA384636596 | TUBA1A | c.1051T>G (p.Phe351Val) c.946T>G (p.Phe316Val) n.2084T>G c.*507T>G (n.*507T>G) | |
| 12 | g.49185315A>G | CA384636597 | TUBA1A | c.1051T>C (p.Phe351Leu) c.946T>C (p.Phe316Leu) n.2084T>C c.*507T>C (n.*507T>C) | |
| 12 | g.49185315A>T | CA384636599 | TUBA1A | c.1051T>A (p.Phe351Ile) c.946T>A (p.Phe316Ile) n.2084T>A c.*507T>A (n.*507T>A) | |
| 12 | g.49185316G>A | CA479717035 | TUBA1A | c.1050C>T (p.Gly350=) c.945C>T (p.Gly315=) n.2083C>T c.*506C>T (n.*506C>T) | |
| 12 | g.49185316G>C | CA479717036 | TUBA1A | c.1050C>G (p.Gly350=) c.945C>G (p.Gly315=) n.2083C>G c.*506C>G (n.*506C>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185316G= | CA2035022248 | TUBA1A | c.1050C= (p.Gly350=) c.945C= (p.Gly315=) n.2083C= c.*506C= (n.*506C=) | |
| 12 | g.49185316G>T | CA479717037 | TUBA1A | c.1050C>A (p.Gly350=) c.945C>A (p.Gly315=) n.2083C>A c.*506C>A (n.*506C>A) | dbSNP |
| 12 | g.49185317C>A | CA384636614 | TUBA1A | c.1049G>T (p.Gly350Val) c.944G>T (p.Gly315Val) n.2082G>T c.*505G>T (n.*505G>T) | ClinVar dbSNP |
| 12 | g.49185317C= | CA2035022252 | TUBA1A | c.1049G= (p.Gly350=) c.944G= (p.Gly315=) n.2082G= c.*505G= (n.*505G=) | |
| 12 | g.49185317C>G | CA384636617 | TUBA1A | c.1049G>C (p.Gly350Ala) c.944G>C (p.Gly315Ala) n.2082G>C c.*505G>C (n.*505G>C) | |
| 12 | g.49185317C>T | CA384636620 | TUBA1A | c.1049G>A (p.Gly350Asp) c.944G>A (p.Gly315Asp) n.2082G>A c.*505G>A (n.*505G>A) | |
| 12 | g.49185318C>A | CA384636625 | TUBA1A | c.1048G>T (p.Gly350Cys) c.943G>T (p.Gly315Cys) n.2081G>T c.*504G>T (n.*504G>T) | |
| 12 | g.49185318C>G | CA384636634 | TUBA1A | c.1048G>C (p.Gly350Arg) c.943G>C (p.Gly315Arg) n.2081G>C c.*504G>C (n.*504G>C) | |
| 12 | g.49185318C>T | CA384636629 | TUBA1A | c.1048G>A (p.Gly350Ser) c.943G>A (p.Gly315Ser) n.2081G>A c.*504G>A (n.*504G>A) | |
| 12 | g.49185319A>C | CA479717038 | TUBA1A | c.1047T>G (p.Thr349=) c.942T>G (p.Thr314=) n.2080T>G c.*503T>G (n.*503T>G) | |
| 12 | g.49185319A>G | CA479717039 | TUBA1A | c.1047T>C (p.Thr349=) c.942T>C (p.Thr314=) n.2080T>C c.*503T>C (n.*503T>C) | |
| 12 | g.49185319A>T | CA479717040 | TUBA1A | c.1047T>A (p.Thr349=) c.942T>A (p.Thr314=) n.2080T>A c.*503T>A (n.*503T>A) | |
| 12 | g.49185320G>A | CA384636659 | TUBA1A | c.1046C>T (p.Thr349Ile) c.941C>T (p.Thr314Ile) n.2079C>T c.*502C>T (n.*502C>T) | |
| 12 | g.49185320G>C | CA384636679 | TUBA1A | c.1046C>G (p.Thr349Ser) c.941C>G (p.Thr314Ser) n.2079C>G c.*502C>G (n.*502C>G) | |
| 12 | g.49185320G>T | CA384636685 | TUBA1A | c.1046C>A (p.Thr349Asn) c.941C>A (p.Thr314Asn) n.2079C>A c.*502C>A (n.*502C>A) | |
| 12 | g.49185321T>A | CA384636697 | TUBA1A | c.1045A>T (p.Thr349Ser) c.940A>T (p.Thr314Ser) n.2078A>T c.*501A>T (n.*501A>T) | |
| 12 | g.49185321T>C | CA384636706 | TUBA1A | c.1045A>G (p.Thr349Ala) c.940A>G (p.Thr314Ala) n.2078A>G c.*501A>G (n.*501A>G) | |
| 12 | g.49185321T>G | CA384636711 | TUBA1A | c.1045A>C (p.Thr349Pro) c.940A>C (p.Thr314Pro) n.2078A>C c.*501A>C (n.*501A>C) | |
| 12 | g.49185322G>A | CA6550214 | TUBA1A | c.1044C>T (p.Pro348=) c.939C>T (p.Pro313=) n.2077C>T c.*500C>T (n.*500C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185322G>C | CA479717043 | TUBA1A | c.1044C>G (p.Pro348=) c.939C>G (p.Pro313=) n.2077C>G c.*500C>G (n.*500C>G) | |
| 12 | g.49185322G= | CA2035022259 | TUBA1A | c.1044C= (p.Pro348=) c.939C= (p.Pro313=) n.2077C= c.*500C= (n.*500C=) | |
| 12 | g.49185322G>T | CA479717042 | TUBA1A | c.1044C>A (p.Pro348=) c.939C>A (p.Pro313=) n.2077C>A c.*500C>A (n.*500C>A) | dbSNP |
| 12 | g.49185323G>A | CA384636726 | TUBA1A | c.1043C>T (p.Pro348Leu) c.938C>T (p.Pro313Leu) n.2076C>T c.*499C>T (n.*499C>T) | |
| 12 | g.49185323G>C | CA384636733 | TUBA1A | c.1043C>G (p.Pro348Arg) c.938C>G (p.Pro313Arg) n.2076C>G c.*499C>G (n.*499C>G) | |
| 12 | g.49185323G>T | CA384636734 | TUBA1A | c.1043C>A (p.Pro348His) c.938C>A (p.Pro313His) n.2076C>A c.*499C>A (n.*499C>A) | |
| 12 | g.49185324G>A | CA384636748 | TUBA1A | c.1042C>T (p.Pro348Ser) c.937C>T (p.Pro313Ser) n.2075C>T c.*498C>T (n.*498C>T) | |
| 12 | g.49185324G>C | CA384636739 | TUBA1A | c.1042C>G (p.Pro348Ala) c.937C>G (p.Pro313Ala) n.2075C>G c.*498C>G (n.*498C>G) | |
| 12 | g.49185324G>T | CA384636742 | TUBA1A | c.1042C>A (p.Pro348Thr) c.937C>A (p.Pro313Thr) n.2075C>A c.*498C>A (n.*498C>A) | |
| 12 | g.49185325G>A | CA479717045 | TUBA1A | c.1041C>T (p.Cys347=) c.936C>T (p.Cys312=) n.2074C>T c.*497C>T (n.*497C>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185325G>C | CA384636758 | TUBA1A | c.1041C>G (p.Cys347Trp) c.936C>G (p.Cys312Trp) n.2074C>G c.*497C>G (n.*497C>G) | |
| 12 | g.49185325G= | CA2035022264 | TUBA1A | c.1041C= (p.Cys347=) c.936C= (p.Cys312=) n.2074C= c.*497C= (n.*497C=) | |
| 12 | g.49185325G>T | CA384636774 | TUBA1A | c.1041C>A (p.Cys347Ter) c.936C>A (p.Cys312Ter) n.2074C>A c.*497C>A (n.*497C>A) | |
| 12 | g.49185326C>A | CA384636792 | TUBA1A | c.1040G>T (p.Cys347Phe) c.935G>T (p.Cys312Phe) n.2073G>T c.*496G>T (n.*496G>T) | |
| 12 | g.49185326C>G | CA384636795 | TUBA1A | c.1040G>C (p.Cys347Ser) c.935G>C (p.Cys312Ser) n.2073G>C c.*496G>C (n.*496G>C) | |
| 12 | g.49185326C>T | CA384636802 | TUBA1A | c.1040G>A (p.Cys347Tyr) c.935G>A (p.Cys312Tyr) n.2073G>A c.*496G>A (n.*496G>A) | |
| 12 | g.49185327del | CA2795904102 | TUBA1A | c.1039del (p.Cys347AlafsTer?) c.934del (p.Cys312AlafsTer?) n.2072del c.*495del (n.*495del) | |
| 12 | g.49185327A>C | CA384636808 | TUBA1A | c.1039T>G (p.Cys347Gly) c.934T>G (p.Cys312Gly) n.2072T>G c.*495T>G (n.*495T>G) | |
| 12 | g.49185327A>G | CA384636812 | TUBA1A | c.1039T>C (p.Cys347Arg) c.934T>C (p.Cys312Arg) n.2072T>C c.*495T>C (n.*495T>C) | |
| 12 | g.49185327A>T | CA384636816 | TUBA1A | c.1039T>A (p.Cys347Ser) c.934T>A (p.Cys312Ser) n.2072T>A c.*495T>A (n.*495T>A) | |
| 12 | g.49185328C>A | CA384636828 | TUBA1A | c.1038G>T (p.Trp346Cys) c.933G>T (p.Trp311Cys) n.2071G>T c.*494G>T (n.*494G>T) | |
| 12 | g.49185328C>G | CA384636835 | TUBA1A | c.1038G>C (p.Trp346Cys) c.933G>C (p.Trp311Cys) n.2071G>C c.*494G>C (n.*494G>C) | |
| 12 | g.49185328C>T | CA384636841 | TUBA1A | c.1038G>A (p.Trp346Ter) c.933G>A (p.Trp311Ter) n.2071G>A c.*494G>A (n.*494G>A) | |
| 12 | g.49185329C>A | CA384636860 | TUBA1A | c.1037G>T (p.Trp346Leu) c.932G>T (p.Trp311Leu) n.2070G>T c.*493G>T (n.*493G>T) | |
| 12 | g.49185329C>G | CA384636864 | TUBA1A | c.1037G>C (p.Trp346Ser) c.932G>C (p.Trp311Ser) n.2070G>C c.*493G>C (n.*493G>C) | |
| 12 | g.49185329C>T | CA384636865 | TUBA1A | c.1037G>A (p.Trp346Ter) c.932G>A (p.Trp311Ter) n.2070G>A c.*493G>A (n.*493G>A) | |
| 12 | g.49185330A>C | CA384636868 | TUBA1A | c.1036T>G (p.Trp346Gly) c.931T>G (p.Trp311Gly) n.2069T>G c.*492T>G (n.*492T>G) | |
| 12 | g.49185330A>G | CA384636866 | TUBA1A | c.1036T>C (p.Trp346Arg) c.931T>C (p.Trp311Arg) n.2069T>C c.*492T>C (n.*492T>C) | |
| 12 | g.49185330A>T | CA384636867 | TUBA1A | c.1036T>A (p.Trp346Arg) c.931T>A (p.Trp311Arg) n.2069T>A c.*492T>A (n.*492T>A) | |
| 12 | g.49185331A= | CA2035022266 | TUBA1A | c.1035T= (p.Asp345=) c.930T= (p.Asp310=) n.2068T= c.*491T= (n.*491T=) | |
| 12 | g.49185331A>C | CA384636873 | TUBA1A | c.1035T>G (p.Asp345Glu) c.930T>G (p.Asp310Glu) n.2068T>G c.*491T>G (n.*491T>G) | |
| 12 | g.49185331A>G | CA479717050 | TUBA1A | c.1035T>C (p.Asp345=) c.930T>C (p.Asp310=) n.2068T>C c.*491T>C (n.*491T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.49185331A>T | CA384636882 | TUBA1A | c.1035T>A (p.Asp345Glu) c.930T>A (p.Asp310Glu) n.2068T>A c.*491T>A (n.*491T>A) | |
| 12 | g.49185332T>A | CA384636889 | TUBA1A | c.1034A>T (p.Asp345Val) c.929A>T (p.Asp310Val) n.2067A>T c.*490A>T (n.*490A>T) | |
| 12 | g.49185332T>C | CA384636893 | TUBA1A | c.1034A>G (p.Asp345Gly) c.929A>G (p.Asp310Gly) n.2067A>G c.*490A>G (n.*490A>G) | |
| 12 | g.49185332T>G | CA384636902 | TUBA1A | c.1034A>C (p.Asp345Ala) c.929A>C (p.Asp310Ala) n.2067A>C c.*490A>C (n.*490A>C) | |
| 12 | g.49185333C>A | CA384636909 | TUBA1A | c.1033G>T (p.Asp345Tyr) c.928G>T (p.Asp310Tyr) n.2066G>T c.*489G>T (n.*489G>T) | |
| 12 | g.49185333C>G | CA384636914 | TUBA1A | c.1033G>C (p.Asp345His) c.928G>C (p.Asp310His) n.2066G>C c.*489G>C (n.*489G>C) | |
| 12 | g.49185333C>T | CA384636928 | TUBA1A | c.1033G>A (p.Asp345Asn) c.928G>A (p.Asp310Asn) n.2066G>A c.*489G>A (n.*489G>A) | |
| 12 | g.49185334C>A | CA479717052 | TUBA1A | c.1032G>T (p.Val344=) c.927G>T (p.Val309=) n.2065G>T c.*488G>T (n.*488G>T) | dbSNP |
| 12 | g.49185334C= | CA2035022269 | TUBA1A | c.1032G= (p.Val344=) c.927G= (p.Val309=) n.2065G= c.*488G= (n.*488G=) | |
| 12 | g.49185334C>G | CA479717053 | TUBA1A | c.1032G>C (p.Val344=) c.927G>C (p.Val309=) n.2065G>C c.*488G>C (n.*488G>C) | |
| 12 | g.49185334C>T | CA479717054 | TUBA1A | c.1032G>A (p.Val344=) c.927G>A (p.Val309=) n.2065G>A c.*488G>A (n.*488G>A) | |
| 12 | g.49185335A>C | CA384636936 | TUBA1A | c.1031T>G (p.Val344Gly) c.926T>G (p.Val309Gly) n.2064T>G c.*487T>G (n.*487T>G) | |
| 12 | g.49185335A>G | CA384636937 | TUBA1A | c.1031T>C (p.Val344Ala) c.926T>C (p.Val309Ala) n.2064T>C c.*487T>C (n.*487T>C) | |
| 12 | g.49185335A>T | CA384636953 | TUBA1A | c.1031T>A (p.Val344Glu) c.926T>A (p.Val309Glu) n.2064T>A c.*487T>A (n.*487T>A) | |
| 12 | g.49185336C>A | CA384636979 | TUBA1A | c.1030G>T (p.Val344Leu) c.925G>T (p.Val309Leu) n.2063G>T c.*486G>T (n.*486G>T) | |
| 12 | g.49185336C>G | CA384636976 | TUBA1A | c.1030G>C (p.Val344Leu) c.925G>C (p.Val309Leu) n.2063G>C c.*486G>C (n.*486G>C) | |
| 12 | g.49185336C>T | CA384636970 | TUBA1A | c.1030G>A (p.Val344Met) c.925G>A (p.Val309Met) n.2063G>A c.*486G>A (n.*486G>A) | |
| 12 | g.49185337A>C | CA384636983 | TUBA1A | c.1029T>G (p.Phe343Leu) c.924T>G (p.Phe308Leu) n.2062T>G c.*485T>G (n.*485T>G) | |
| 12 | g.49185337A>G | CA479717057 | TUBA1A | c.1029T>C (p.Phe343=) c.924T>C (p.Phe308=) n.2062T>C c.*485T>C (n.*485T>C) | |
| 12 | g.49185337A>T | CA384636981 | TUBA1A | c.1029T>A (p.Phe343Leu) c.924T>A (p.Phe308Leu) n.2062T>A c.*485T>A (n.*485T>A) | |
| 12 | g.49185338A>C | CA384636987 | TUBA1A | c.1028T>G (p.Phe343Cys) c.923T>G (p.Phe308Cys) n.2061T>G c.*484T>G (n.*484T>G) | |
| 12 | g.49185338A>G | CA384636992 | TUBA1A | c.1028T>C (p.Phe343Ser) c.923T>C (p.Phe308Ser) n.2061T>C c.*484T>C (n.*484T>C) | |
| 12 | g.49185338A>T | CA384637000 | TUBA1A | c.1028T>A (p.Phe343Tyr) c.923T>A (p.Phe308Tyr) n.2061T>A c.*484T>A (n.*484T>A) | |
| 12 | g.49185339A>C | CA384637003 | TUBA1A | c.1027T>G (p.Phe343Val) c.922T>G (p.Phe308Val) n.2060T>G c.*483T>G (n.*483T>G) | |
| 12 | g.49185339A>G | CA384637010 | TUBA1A | c.1027T>C (p.Phe343Leu) c.922T>C (p.Phe308Leu) n.2060T>C c.*483T>C (n.*483T>C) | |
| 12 | g.49185339A>T | CA384637029 | TUBA1A | c.1027T>A (p.Phe343Ile) c.922T>A (p.Phe308Ile) n.2060T>A c.*483T>A (n.*483T>A) | |
| 12 | g.49185340C>A | CA384637032 | TUBA1A | c.1026G>T (p.Gln342His) c.921G>T (p.Gln307His) n.2059G>T c.*482G>T (n.*482G>T) | |
| 12 | g.49185340C>G | CA384637035 | TUBA1A | c.1026G>C (p.Gln342His) c.921G>C (p.Gln307His) n.2059G>C c.*482G>C (n.*482G>C) | |
| 12 | g.49185340C>T | CA479717059 | TUBA1A | c.1026G>A (p.Gln342=) c.921G>A (p.Gln307=) n.2059G>A c.*482G>A (n.*482G>A) | |
| 12 | g.49185341T>A | CA384637037 | TUBA1A | c.1025A>T (p.Gln342Leu) c.920A>T (p.Gln307Leu) n.2058A>T c.*481A>T (n.*481A>T) | |
| 12 | g.49185341T>C | CA384637038 | TUBA1A | c.1025A>G (p.Gln342Arg) c.920A>G (p.Gln307Arg) n.2058A>G c.*481A>G (n.*481A>G) | |
| 12 | g.49185341T>G | CA384637044 | TUBA1A | c.1025A>C (p.Gln342Pro) c.920A>C (p.Gln307Pro) n.2058A>C c.*481A>C (n.*481A>C) | ClinVar dbSNP |
| 12 | g.49185341T= | CA2035022271 | TUBA1A | c.1025A= (p.Gln342=) c.920A= (p.Gln307=) n.2058A= c.*481A= (n.*481A=) | |
| 12 | g.49185342G>A | CA384637056 | TUBA1A | c.1024C>T (p.Gln342Ter) c.919C>T (p.Gln307Ter) n.2057C>T c.*480C>T (n.*480C>T) | |
| 12 | g.49185342G>C | CA384637053 | TUBA1A | c.1024C>G (p.Gln342Glu) c.919C>G (p.Gln307Glu) n.2057C>G c.*480C>G (n.*480C>G) | |
| 12 | g.49185342G>T | CA384637048 | TUBA1A | c.1024C>A (p.Gln342Lys) c.919C>A (p.Gln307Lys) n.2057C>A c.*480C>A (n.*480C>A) | |
| 12 | g.49185343G>A | CA479717062 | TUBA1A | c.1023C>T (p.Ile341=) c.918C>T (p.Ile306=) n.2056C>T c.*479C>T (n.*479C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185343G>C | CA384637059 | TUBA1A | c.1023C>G (p.Ile341Met) c.918C>G (p.Ile306Met) n.2056C>G c.*479C>G (n.*479C>G) | |
| 12 | g.49185343G= | CA2035022274 | TUBA1A | c.1023C= (p.Ile341=) c.918C= (p.Ile306=) n.2056C= c.*479C= (n.*479C=) | |
| 12 | g.49185343G>T | CA479717063 | TUBA1A | c.1023C>A (p.Ile341=) c.918C>A (p.Ile306=) n.2056C>A c.*479C>A (n.*479C>A) | |
| 12 | g.49185344A>C | CA384637070 | TUBA1A | c.1022T>G (p.Ile341Ser) c.917T>G (p.Ile306Ser) n.2055T>G c.*478T>G (n.*478T>G) | |
| 12 | g.49185344A>G | CA384637074 | TUBA1A | c.1022T>C (p.Ile341Thr) c.917T>C (p.Ile306Thr) n.2055T>C c.*478T>C (n.*478T>C) | |
| 12 | g.49185344A>T | CA384637081 | TUBA1A | c.1022T>A (p.Ile341Asn) c.917T>A (p.Ile306Asn) n.2055T>A c.*478T>A (n.*478T>A) | |
| 12 | g.49185345T>A | CA384637088 | TUBA1A | c.1021A>T (p.Ile341Phe) c.916A>T (p.Ile306Phe) n.2054A>T c.*477A>T (n.*477A>T) | |
| 12 | g.49185345T>C | CA384637094 | TUBA1A | c.1021A>G (p.Ile341Val) c.916A>G (p.Ile306Val) n.2054A>G c.*477A>G (n.*477A>G) | |
| 12 | g.49185345T>G | CA384637100 | TUBA1A | c.1021A>C (p.Ile341Leu) c.916A>C (p.Ile306Leu) n.2054A>C c.*477A>C (n.*477A>C) | |
| 12 | g.49185346G>A | CA479717065 | TUBA1A | c.1020C>T (p.Thr340=) c.915C>T (p.Thr305=) n.2053C>T c.*476C>T (n.*476C>T) | |
| 12 | g.49185346G>C | CA479717067 | TUBA1A | c.1020C>G (p.Thr340=) c.915C>G (p.Thr305=) n.2053C>G c.*476C>G (n.*476C>G) | |
| 12 | g.49185346G>T | CA479717068 | TUBA1A | c.1020C>A (p.Thr340=) c.915C>A (p.Thr305=) n.2053C>A c.*476C>A (n.*476C>A) | dbSNP |
| 12 | g.49185347G>A | CA384637118 | TUBA1A | c.1019C>T (p.Thr340Ile) c.914C>T (p.Thr305Ile) n.2052C>T c.*475C>T (n.*475C>T) | |
| 12 | g.49185347G>C | CA384637119 | TUBA1A | c.1019C>G (p.Thr340Ser) c.914C>G (p.Thr305Ser) n.2052C>G c.*475C>G (n.*475C>G) | gnomAD v4 |
| 12 | g.49185347G>T | CA384637120 | TUBA1A | c.1019C>A (p.Thr340Asn) c.914C>A (p.Thr305Asn) n.2052C>A c.*475C>A (n.*475C>A) | |
| 12 | g.49185348T>A | CA384637121 | TUBA1A | c.1018A>T (p.Thr340Ser) c.913A>T (p.Thr305Ser) n.2051A>T c.*474A>T (n.*474A>T) | |
| 12 | g.49185348T>C | CA384637122 | TUBA1A | c.1018A>G (p.Thr340Ala) c.913A>G (p.Thr305Ala) n.2051A>G c.*474A>G (n.*474A>G) | |
| 12 | g.49185348T>G | CA384637124 | TUBA1A | c.1018A>C (p.Thr340Pro) c.913A>C (p.Thr305Pro) n.2051A>C c.*474A>C (n.*474A>C) | dbSNP |
| 12 | g.49185348T= | CA2035022276 | TUBA1A | c.1018A= (p.Thr340=) c.913A= (p.Thr305=) n.2051A= c.*474A= (n.*474A=) | |
| 12 | g.49185349A= | CA2035022278 | TUBA1A | c.1017T= (p.Arg339=) c.912T= (p.Arg304=) n.2050T= c.*473T= (n.*473T=) | |
| 12 | g.49185349A>C | CA479717069 | TUBA1A | c.1017T>G (p.Arg339=) c.912T>G (p.Arg304=) n.2050T>G c.*473T>G (n.*473T>G) | |
| 12 | g.49185349A>G | CA479717070 | TUBA1A | c.1017T>C (p.Arg339=) c.912T>C (p.Arg304=) n.2050T>C c.*473T>C (n.*473T>C) | dbSNP gnomAD v4 |
| 12 | g.49185349A>T | CA479717071 | TUBA1A | c.1017T>A (p.Arg339=) c.912T>A (p.Arg304=) n.2050T>A c.*473T>A (n.*473T>A) | dbSNP |
| 12 | g.49185350C>A | CA384637142 | TUBA1A | c.1016G>T (p.Arg339Leu) c.911G>T (p.Arg304Leu) n.2049G>T c.*472G>T (n.*472G>T) | |
| 12 | g.49185350C= | CA2035022280 | TUBA1A | c.1016G= (p.Arg339=) c.911G= (p.Arg304=) n.2049G= c.*472G= (n.*472G=) | |
| 12 | g.49185350C>G | CA384637143 | TUBA1A | c.1016G>C (p.Arg339Pro) c.911G>C (p.Arg304Pro) n.2049G>C c.*472G>C (n.*472G>C) | |
| 12 | g.49185350C>T | CA384637128 | TUBA1A | c.1016G>A (p.Arg339His) c.911G>A (p.Arg304His) n.2049G>A c.*472G>A (n.*472G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185351G>A | CA384637144 | TUBA1A | c.1015C>T (p.Arg339Cys) c.910C>T (p.Arg304Cys) n.2048C>T c.*471C>T (n.*471C>T) | COSMIC |
| 12 | g.49185351G>C | CA384637146 | TUBA1A | c.1015C>G (p.Arg339Gly) c.910C>G (p.Arg304Gly) n.2048C>G c.*471C>G (n.*471C>G) | |
| 12 | g.49185351G>T | CA384637145 | TUBA1A | c.1015C>A (p.Arg339Ser) c.910C>A (p.Arg304Ser) n.2048C>A c.*471C>A (n.*471C>A) | dbSNP |
| 12 | g.49185352C>A | CA384637149 | TUBA1A | c.1014G>T (p.Lys338Asn) c.909G>T (p.Lys303Asn) n.2047G>T c.*470G>T (n.*470G>T) | |
| 12 | g.49185352C>G | CA384637160 | TUBA1A | c.1014G>C (p.Lys338Asn) c.909G>C (p.Lys303Asn) n.2047G>C c.*470G>C (n.*470G>C) | |
| 12 | g.49185352C>T | CA479717076 | TUBA1A | c.1014G>A (p.Lys338=) c.909G>A (p.Lys303=) n.2047G>A c.*470G>A (n.*470G>A) | |
| 12 | g.49185353T>A | CA384637171 | TUBA1A | c.1013A>T (p.Lys338Met) c.908A>T (p.Lys303Met) n.2046A>T c.*469A>T (n.*469A>T) | ClinVar |
| 12 | g.49185353T>C | CA384637173 | TUBA1A | c.1013A>G (p.Lys338Arg) c.908A>G (p.Lys303Arg) n.2046A>G c.*469A>G (n.*469A>G) | |
| 12 | g.49185353T>G | CA384637177 | TUBA1A | c.1013A>C (p.Lys338Thr) c.908A>C (p.Lys303Thr) n.2046A>C c.*469A>C (n.*469A>C) | |
| 12 | g.49185354T>A | CA384637187 | TUBA1A | c.1012A>T (p.Lys338Ter) c.907A>T (p.Lys303Ter) n.2045A>T c.*468A>T (n.*468A>T) | |
| 12 | g.49185354T>C | CA384637186 | TUBA1A | c.1012A>G (p.Lys338Glu) c.907A>G (p.Lys303Glu) n.2045A>G c.*468A>G (n.*468A>G) | |
| 12 | g.49185354T>G | CA384637182 | TUBA1A | c.1012A>C (p.Lys338Gln) c.907A>C (p.Lys303Gln) n.2045A>C c.*468A>C (n.*468A>C) | |
| 12 | g.49185355G>A | CA479717078 | TUBA1A | c.1011C>T (p.Thr337=) c.906C>T (p.Thr302=) n.2044C>T c.*467C>T (n.*467C>T) | |
| 12 | g.49185355G>C | CA479717079 | TUBA1A | c.1011C>G (p.Thr337=) c.906C>G (p.Thr302=) n.2044C>G c.*467C>G (n.*467C>G) | |
| 12 | g.49185355G>T | CA479717080 | TUBA1A | c.1011C>A (p.Thr337=) c.906C>A (p.Thr302=) n.2044C>A c.*467C>A (n.*467C>A) | |
| 12 | g.49185356G>A | CA384637190 | TUBA1A | c.1010C>T (p.Thr337Ile) c.905C>T (p.Thr302Ile) n.2043C>T c.*466C>T (n.*466C>T) | |
| 12 | g.49185356G>C | CA384637194 | TUBA1A | c.1010C>G (p.Thr337Ser) c.905C>G (p.Thr302Ser) n.2043C>G c.*466C>G (n.*466C>G) | |
| 12 | g.49185356G>T | CA384637196 | TUBA1A | c.1010C>A (p.Thr337Asn) c.905C>A (p.Thr302Asn) n.2043C>A c.*466C>A (n.*466C>A) | |
| 12 | g.49185357T>A | CA384637204 | TUBA1A | c.1009A>T (p.Thr337Ser) c.904A>T (p.Thr302Ser) n.2042A>T c.*465A>T (n.*465A>T) | |
| 12 | g.49185357T>C | CA384637210 | TUBA1A | c.1009A>G (p.Thr337Ala) c.904A>G (p.Thr302Ala) n.2042A>G c.*465A>G (n.*465A>G) | |
| 12 | g.49185357T>G | CA384637214 | TUBA1A | c.1009A>C (p.Thr337Pro) c.904A>C (p.Thr302Pro) n.2042A>C c.*465A>C (n.*465A>C) | |
| 12 | g.49185358C>A | CA384637221 | TUBA1A | c.1008G>T (p.Lys336Asn) c.903G>T (p.Lys301Asn) n.2041G>T c.*464G>T (n.*464G>T) | |
| 12 | g.49185358C= | CA2035022285 | TUBA1A | c.1008G= (p.Lys336=) c.903G= (p.Lys301=) n.2041G= c.*464G= (n.*464G=) | |
| 12 | g.49185358C>G | CA384637217 | TUBA1A | c.1008G>C (p.Lys336Asn) c.903G>C (p.Lys301Asn) n.2041G>C c.*464G>C (n.*464G>C) | |
| 12 | g.49185358C>T | CA173745 | TUBA1A | c.1008G>A (p.Lys336=) c.903G>A (p.Lys301=) n.2041G>A c.*464G>A (n.*464G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185359T>A | CA384637222 | TUBA1A | c.1007A>T (p.Lys336Met) c.902A>T (p.Lys301Met) n.2040A>T c.*463A>T (n.*463A>T) | |
| 12 | g.49185359T>C | CA384637226 | TUBA1A | c.1007A>G (p.Lys336Arg) c.902A>G (p.Lys301Arg) n.2040A>G c.*463A>G (n.*463A>G) | |
| 12 | g.49185359T>G | CA384637228 | TUBA1A | c.1007A>C (p.Lys336Thr) c.902A>C (p.Lys301Thr) n.2040A>C c.*463A>C (n.*463A>C) | |
| 12 | g.49185360T>A | CA384637229 | TUBA1A | c.1006A>T (p.Lys336Ter) c.901A>T (p.Lys301Ter) n.2039A>T c.*462A>T (n.*462A>T) | |
| 12 | g.49185360T>C | CA384637232 | TUBA1A | c.1006A>G (p.Lys336Glu) c.901A>G (p.Lys301Glu) n.2039A>G c.*462A>G (n.*462A>G) | |
| 12 | g.49185360T>G | CA384637251 | TUBA1A | c.1006A>C (p.Lys336Gln) c.901A>C (p.Lys301Gln) n.2039A>C c.*462A>C (n.*462A>C) | |
| 12 | g.49185361G>A | CA479717084 | TUBA1A | c.1005C>T (p.Ile335=) c.900C>T (p.Ile300=) n.2038C>T c.*461C>T (n.*461C>T) | |
| 12 | g.49185361G>C | CA384637271 | TUBA1A | c.1005C>G (p.Ile335Met) c.900C>G (p.Ile300Met) n.2038C>G c.*461C>G (n.*461C>G) | |
| 12 | g.49185361G>T | CA479717085 | TUBA1A | c.1005C>A (p.Ile335=) c.900C>A (p.Ile300=) n.2038C>A c.*461C>A (n.*461C>A) | |
| 12 | g.49185362A>C | CA384637275 | TUBA1A | c.1004T>G (p.Ile335Ser) c.899T>G (p.Ile300Ser) n.2037T>G c.*460T>G (n.*460T>G) | |
| 12 | g.49185362A>G | CA384637277 | TUBA1A | c.1004T>C (p.Ile335Thr) c.899T>C (p.Ile300Thr) n.2037T>C c.*460T>C (n.*460T>C) | |
| 12 | g.49185362A>T | CA384637285 | TUBA1A | c.1004T>A (p.Ile335Asn) c.899T>A (p.Ile300Asn) n.2037T>A c.*460T>A (n.*460T>A) | |
| 12 | g.49185363T>A | CA384637293 | TUBA1A | c.1003A>T (p.Ile335Phe) c.898A>T (p.Ile300Phe) n.2036A>T c.*459A>T (n.*459A>T) | |
| 12 | g.49185363T>C | CA384637301 | TUBA1A | c.1003A>G (p.Ile335Val) c.898A>G (p.Ile300Val) n.2036A>G c.*459A>G (n.*459A>G) | |
| 12 | g.49185363T>G | CA384637305 | TUBA1A | c.1003A>C (p.Ile335Leu) c.898A>C (p.Ile300Leu) n.2036A>C c.*459A>C (n.*459A>C) | |
| 12 | g.49185364G>A | CA479717090 | TUBA1A | c.1002C>T (p.Thr334=) c.897C>T (p.Thr299=) n.2035C>T c.*458C>T (n.*458C>T) | gnomAD v4 |
| 12 | g.49185364G>C | CA479717091 | TUBA1A | c.1002C>G (p.Thr334=) c.897C>G (p.Thr299=) n.2035C>G c.*458C>G (n.*458C>G) | dbSNP |
| 12 | g.49185364G= | CA2035022291 | TUBA1A | c.1002C= (p.Thr334=) c.897C= (p.Thr299=) n.2035C= c.*458C= (n.*458C=) | |
| 12 | g.49185364G>T | CA479717094 | TUBA1A | c.1002C>A (p.Thr334=) c.897C>A (p.Thr299=) n.2035C>A c.*458C>A (n.*458C>A) | |
| 12 | g.49185365G>A | CA384637313 | TUBA1A | c.1001C>T (p.Thr334Ile) c.896C>T (p.Thr299Ile) n.2034C>T c.*457C>T (n.*457C>T) | |
| 12 | g.49185365G>C | CA384637307 | TUBA1A | c.1001C>G (p.Thr334Ser) c.896C>G (p.Thr299Ser) n.2034C>G c.*457C>G (n.*457C>G) | |
| 12 | g.49185365G>T | CA384637311 | TUBA1A | c.1001C>A (p.Thr334Asn) c.896C>A (p.Thr299Asn) n.2034C>A c.*457C>A (n.*457C>A) | |
| 12 | g.49185366T>A | CA384637327 | TUBA1A | c.1000A>T (p.Thr334Ser) c.895A>T (p.Thr299Ser) n.2033A>T c.*456A>T (n.*456A>T) | |
| 12 | g.49185366T>C | CA384637331 | TUBA1A | c.1000A>G (p.Thr334Ala) c.895A>G (p.Thr299Ala) n.2033A>G c.*456A>G (n.*456A>G) | |
| 12 | g.49185366T>G | CA384637334 | TUBA1A | c.1000A>C (p.Thr334Pro) c.895A>C (p.Thr299Pro) n.2033A>C c.*456A>C (n.*456A>C) | |
| 12 | g.49185367G>A | CA479717099 | TUBA1A | c.999C>T (p.Ala333=) c.894C>T (p.Ala298=) n.2032C>T c.*455C>T (n.*455C>T) | |
| 12 | g.49185367G>C | CA479717100 | TUBA1A | c.999C>G (p.Ala333=) c.894C>G (p.Ala298=) n.2032C>G c.*455C>G (n.*455C>G) | |
| 12 | g.49185367G>T | CA479717101 | TUBA1A | c.999C>A (p.Ala333=) c.894C>A (p.Ala298=) n.2032C>A c.*455C>A (n.*455C>A) | |
| 12 | g.49185368G>A | CA384637337 | TUBA1A | c.998C>T (p.Ala333Val) c.893C>T (p.Ala298Val) n.2031C>T c.*454C>T (n.*454C>T) | ClinVar dbSNP |
| 12 | g.49185368G>C | CA384637338 | TUBA1A | c.998C>G (p.Ala333Gly) c.893C>G (p.Ala298Gly) n.2031C>G c.*454C>G (n.*454C>G) | dbSNP |
| 12 | g.49185368G= | CA2035022297 | TUBA1A | c.998C= (p.Ala333=) c.893C= (p.Ala298=) n.2031C= c.*454C= (n.*454C=) | |
| 12 | g.49185368G>T | CA384637339 | TUBA1A | c.998C>A (p.Ala333Asp) c.893C>A (p.Ala298Asp) n.2031C>A c.*454C>A (n.*454C>A) | |
| 12 | g.49185369C>A | CA384637350 | TUBA1A | c.997G>T (p.Ala333Ser) c.892G>T (p.Ala298Ser) n.2030G>T c.*453G>T (n.*453G>T) | |
| 12 | g.49185369C>G | CA384637340 | TUBA1A | c.997G>C (p.Ala333Pro) c.892G>C (p.Ala298Pro) n.2030G>C c.*453G>C (n.*453G>C) | |
| 12 | g.49185369C>T | CA384637346 | TUBA1A | c.997G>A (p.Ala333Thr) c.892G>A (p.Ala298Thr) n.2030G>A c.*453G>A (n.*453G>A) | |
| 12 | g.49185370A= | CA2035022301 | TUBA1A | c.996T= (p.Ile332=) c.891T= (p.Ile297=) n.2029T= c.*452T= (n.*452T=) | |
| 12 | g.49185370A>C | CA384637353 | TUBA1A | c.996T>G (p.Ile332Met) c.891T>G (p.Ile297Met) n.2029T>G c.*452T>G (n.*452T>G) | |
| 12 | g.49185370A>G | CA6550215 | TUBA1A | c.996T>C (p.Ile332=) c.891T>C (p.Ile297=) n.2029T>C c.*452T>C (n.*452T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 12 | g.49185370A>T | CA479717109 | TUBA1A | c.996T>A (p.Ile332=) c.891T>A (p.Ile297=) n.2029T>A c.*452T>A (n.*452T>A) | |
| 12 | g.49185371A= | CA2035022304 | TUBA1A | c.995T= (p.Ile332=) c.890T= (p.Ile297=) n.2028T= c.*451T= (n.*451T=) | |
| 12 | g.49185371A>C | CA384637366 | TUBA1A | c.995T>G (p.Ile332Ser) c.890T>G (p.Ile297Ser) n.2028T>G c.*451T>G (n.*451T>G) | |
| 12 | g.49185371A>G | CA213289 | TUBA1A | c.995T>C (p.Ile332Thr) c.890T>C (p.Ile297Thr) n.2028T>C c.*451T>C (n.*451T>C) | ClinVar dbSNP |
| 12 | g.49185371A>T | CA384637374 | TUBA1A | c.995T>A (p.Ile332Asn) c.890T>A (p.Ile297Asn) n.2028T>A c.*451T>A (n.*451T>A) | |
| 12 | g.49185372T>A | CA384637379 | TUBA1A | c.994A>T (p.Ile332Phe) c.889A>T (p.Ile297Phe) n.2027A>T c.*450A>T (n.*450A>T) | |
| 12 | g.49185372T>C | CA384637383 | TUBA1A | c.994A>G (p.Ile332Val) c.889A>G (p.Ile297Val) n.2027A>G c.*450A>G (n.*450A>G) | dbSNP |
| 12 | g.49185372T>G | CA384637382 | TUBA1A | c.994A>C (p.Ile332Leu) c.889A>C (p.Ile297Leu) n.2027A>C c.*450A>C (n.*450A>C) | |
| 12 | g.49185372T= | CA2035022307 | TUBA1A | c.994A= (p.Ile332=) c.889A= (p.Ile297=) n.2027A= c.*450A= (n.*450A=) | |
| 12 | g.49185373G>A | CA479717117 | TUBA1A | c.993C>T (p.Ala331=) c.888C>T (p.Ala296=) n.2026C>T c.*449C>T (n.*449C>T) | dbSNP gnomAD v4 |
| 12 | g.49185373G>C | CA6550216 | TUBA1A | c.993C>G (p.Ala331=) c.888C>G (p.Ala296=) n.2026C>G c.*449C>G (n.*449C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185373G= | CA2035022313 | TUBA1A | c.993C= (p.Ala331=) c.888C= (p.Ala296=) n.2026C= c.*449C= (n.*449C=) | |
| 12 | g.49185373G>T | CA479717118 | TUBA1A | c.993C>A (p.Ala331=) c.888C>A (p.Ala296=) n.2026C>A c.*449C>A (n.*449C>A) | |
| 12 | g.49185374G>A | CA384637384 | TUBA1A | c.992C>T (p.Ala331Val) c.887C>T (p.Ala296Val) n.2025C>T c.*448C>T (n.*448C>T) | |
| 12 | g.49185374G>C | CA384637386 | TUBA1A | c.992C>G (p.Ala331Gly) c.887C>G (p.Ala296Gly) n.2025C>G c.*448C>G (n.*448C>G) | |
| 12 | g.49185374G>T | CA384637394 | TUBA1A | c.992C>A (p.Ala331Asp) c.887C>A (p.Ala296Asp) n.2025C>A c.*448C>A (n.*448C>A) | |
| 12 | g.49185375C>A | CA384637401 | TUBA1A | c.991G>T (p.Ala331Ser) c.886G>T (p.Ala296Ser) n.2024G>T c.*447G>T (n.*447G>T) | |
| 12 | g.49185375C= | CA2035022319 | TUBA1A | c.991G= (p.Ala331=) c.886G= (p.Ala296=) n.2024G= c.*447G= (n.*447G=) | |
| 12 | g.49185375C>G | CA384637405 | TUBA1A | c.991G>C (p.Ala331Pro) c.886G>C (p.Ala296Pro) n.2024G>C c.*447G>C (n.*447G>C) | |
| 12 | g.49185375C>T | CA213287 | TUBA1A | c.991G>A (p.Ala331Thr) c.886G>A (p.Ala296Thr) n.2024G>A c.*447G>A (n.*447G>A) | ClinVar dbSNP |
| 12 | g.49185376A= | CA2035022325 | TUBA1A | c.990T= (p.Ala330=) c.885T= (p.Ala295=) n.2023T= c.*446T= (n.*446T=) | |
| 12 | g.49185376A>C | CA479717125 | TUBA1A | c.990T>G (p.Ala330=) c.885T>G (p.Ala295=) n.2023T>G c.*446T>G (n.*446T>G) | |
| 12 | g.49185376A>G | CA6550217 | TUBA1A | c.990T>C (p.Ala330=) c.885T>C (p.Ala295=) n.2023T>C c.*446T>C (n.*446T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185376A>T | CA479717128 | TUBA1A | c.990T>A (p.Ala330=) c.885T>A (p.Ala295=) n.2023T>A c.*446T>A (n.*446T>A) | dbSNP |
| 12 | g.49185377G>A | CA384637415 | TUBA1A | c.989C>T (p.Ala330Val) c.884C>T (p.Ala295Val) n.2022C>T c.*445C>T (n.*445C>T) | |
| 12 | g.49185377G>C | CA384637416 | TUBA1A | c.989C>G (p.Ala330Gly) c.884C>G (p.Ala295Gly) n.2022C>G c.*445C>G (n.*445C>G) | |
| 12 | g.49185377G>T | CA384637418 | TUBA1A | c.989C>A (p.Ala330Asp) c.884C>A (p.Ala295Asp) n.2022C>A c.*445C>A (n.*445C>A) | |
| 12 | g.49185378C>A | CA384637439 | TUBA1A | c.988G>T (p.Ala330Ser) c.883G>T (p.Ala295Ser) n.2021G>T c.*444G>T (n.*444G>T) | |
| 12 | g.49185378C= | CA2035022329 | TUBA1A | c.988G= (p.Ala330=) c.883G= (p.Ala295=) n.2021G= c.*444G= (n.*444G=) | |
| 12 | g.49185378C>G | CA384637421 | TUBA1A | c.988G>C (p.Ala330Pro) c.883G>C (p.Ala295Pro) n.2021G>C c.*444G>C (n.*444G>C) | |
| 12 | g.49185378C>T | CA384637432 | TUBA1A | c.988G>A (p.Ala330Thr) c.883G>A (p.Ala295Thr) n.2021G>A c.*444G>A (n.*444G>A) | dbSNP |
| 12 | g.49185379A= | CA2035022331 | TUBA1A | c.987T= (p.Asn329=) c.882T= (p.Asn294=) n.2020T= c.*443T= (n.*443T=) | |
| 12 | g.49185379A>C | CA384637443 | TUBA1A | c.987T>G (p.Asn329Lys) c.882T>G (p.Asn294Lys) n.2020T>G c.*443T>G (n.*443T>G) | |
| 12 | g.49185379A>G | CA479717133 | TUBA1A | c.987T>C (p.Asn329=) c.882T>C (p.Asn294=) n.2020T>C c.*443T>C (n.*443T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185379A>T | CA384637449 | TUBA1A | c.987T>A (p.Asn329Lys) c.882T>A (p.Asn294Lys) n.2020T>A c.*443T>A (n.*443T>A) | |
| 12 | g.49185380T>A | CA384637450 | TUBA1A | c.986A>T (p.Asn329Ile) c.881A>T (p.Asn294Ile) n.2019A>T c.*442A>T (n.*442A>T) | |
| 12 | g.49185380T>C | CA213285 | TUBA1A | c.986A>G (p.Asn329Ser) c.881A>G (p.Asn294Ser) n.2019A>G c.*442A>G (n.*442A>G) | ClinVar dbSNP |
| 12 | g.49185380T>G | CA384637451 | TUBA1A | c.986A>C (p.Asn329Thr) c.881A>C (p.Asn294Thr) n.2019A>C c.*442A>C (n.*442A>C) | |
| 12 | g.49185380T= | CA2035022337 | TUBA1A | c.986A= (p.Asn329=) c.881A= (p.Asn294=) n.2019A= c.*442A= (n.*442A=) |