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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.49185018C>A | CA384632858 | TUBA1A | c.1348G>T (p.Glu450Ter) c.1243G>T (p.Glu415Ter) n.2381G>T c.*804G>T (n.*804G>T) | |
| 12 | g.49185018C>G | CA384632862 | TUBA1A | c.1348G>C (p.Glu450Gln) c.1243G>C (p.Glu415Gln) n.2381G>C c.*804G>C (n.*804G>C) | |
| 12 | g.49185018C>T | CA384632865 | TUBA1A | c.1348G>A (p.Glu450Lys) c.1243G>A (p.Glu415Lys) n.2381G>A c.*804G>A (n.*804G>A) | COSMIC |
| 12 | g.49185019C>A | CA384632867 | TUBA1A | c.1347G>T (p.Glu449Asp) c.1242G>T (p.Glu414Asp) n.2380G>T c.*803G>T (n.*803G>T) | |
| 12 | g.49185019C= | CA2035021684 | TUBA1A | c.1347G= (p.Glu449=) c.1242G= (p.Glu414=) n.2380G= c.*803G= (n.*803G=) | |
| 12 | g.49185019C>G | CA384632868 | TUBA1A | c.1347G>C (p.Glu449Asp) c.1242G>C (p.Glu414Asp) n.2380G>C c.*803G>C (n.*803G>C) | |
| 12 | g.49185019C>T | CA6550197 | TUBA1A | c.1347G>A (p.Glu449=) c.1242G>A (p.Glu414=) n.2380G>A c.*803G>A (n.*803G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185020T>A | CA384632870 | TUBA1A | c.1346A>T (p.Glu449Val) c.1241A>T (p.Glu414Val) n.2379A>T c.*802A>T (n.*802A>T) | |
| 12 | g.49185020T>C | CA384632874 | TUBA1A | c.1346A>G (p.Glu449Gly) c.1241A>G (p.Glu414Gly) n.2379A>G c.*802A>G (n.*802A>G) | |
| 12 | g.49185020T>G | CA384632879 | TUBA1A | c.1346A>C (p.Glu449Ala) c.1241A>C (p.Glu414Ala) n.2379A>C c.*802A>C (n.*802A>C) | |
| 12 | g.49185021C>A | CA384632881 | TUBA1A | c.1345G>T (p.Glu449Ter) c.1240G>T (p.Glu414Ter) n.2378G>T c.*801G>T (n.*801G>T) | |
| 12 | g.49185021C>G | CA384632885 | TUBA1A | c.1345G>C (p.Glu449Gln) c.1240G>C (p.Glu414Gln) n.2378G>C c.*801G>C (n.*801G>C) | |
| 12 | g.49185021C>T | CA384632892 | TUBA1A | c.1345G>A (p.Glu449Lys) c.1240G>A (p.Glu414Lys) n.2378G>A c.*801G>A (n.*801G>A) | |
| 12 | g.49185022T>A | CA479716927 | TUBA1A | c.1344A>T (p.Gly448=) c.1239A>T (p.Gly413=) n.2377A>T c.*800A>T (n.*800A>T) | |
| 12 | g.49185022T>C | CA479716928 | TUBA1A | c.1344A>G (p.Gly448=) c.1239A>G (p.Gly413=) n.2377A>G c.*800A>G (n.*800A>G) | |
| 12 | g.49185022T>G | CA479716929 | TUBA1A | c.1344A>C (p.Gly448=) c.1239A>C (p.Gly413=) n.2377A>C c.*800A>C (n.*800A>C) | |
| 12 | g.49185023C>A | CA384632917 | TUBA1A | c.1343G>T (p.Gly448Val) c.1238G>T (p.Gly413Val) n.2376G>T c.*799G>T (n.*799G>T) | |
| 12 | g.49185023C= | CA2035021688 | TUBA1A | c.1343G= (p.Gly448=) c.1238G= (p.Gly413=) n.2376G= c.*799G= (n.*799G=) | |
| 12 | g.49185023C>G | CA384632895 | TUBA1A | c.1343G>C (p.Gly448Ala) c.1238G>C (p.Gly413Ala) n.2376G>C c.*799G>C (n.*799G>C) | |
| 12 | g.49185023C>T | CA384632908 | TUBA1A | c.1343G>A (p.Gly448Glu) c.1238G>A (p.Gly413Glu) n.2376G>A c.*799G>A (n.*799G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185024C>A | CA384632921 | TUBA1A | c.1342G>T (p.Gly448Ter) c.1237G>T (p.Gly413Ter) n.2375G>T c.*798G>T (n.*798G>T) | |
| 12 | g.49185024C>G | CA384632923 | TUBA1A | c.1342G>C (p.Gly448Arg) c.1237G>C (p.Gly413Arg) n.2375G>C c.*798G>C (n.*798G>C) | |
| 12 | g.49185024C>T | CA384632926 | TUBA1A | c.1342G>A (p.Gly448Arg) c.1237G>A (p.Gly413Arg) n.2375G>A c.*798G>A (n.*798G>A) | COSMIC |
| 12 | g.49185024_49185025delinsCT | CA2035021695 | TUBA1A | c.1341_1342delinsAG (p.Glu447=) c.1236_1237delinsAG (p.Glu412=) n.2374_2375delinsAG c.*797_*798delinsAG (n.*797_*798delinsAG) | |
| 12 | g.49185028_49185030del | CA2575146018 | TUBA1A | c.1340_1342del (p.Glu447del) c.1235_1237del (p.Glu412del) n.2373_2375del c.*796_*798del (n.*796_*798del) | gnomAD v4 |
| 12 | g.49185025T>A | CA384632928 | TUBA1A | c.1341A>T (p.Glu447Asp) c.1236A>T (p.Glu412Asp) n.2374A>T c.*797A>T (n.*797A>T) | |
| 12 | g.49185025T>C | CA479716931 | TUBA1A | c.1341A>G (p.Glu447=) c.1236A>G (p.Glu412=) n.2374A>G c.*797A>G (n.*797A>G) | |
| 12 | g.49185025T>G | CA384632932 | TUBA1A | c.1341A>C (p.Glu447Asp) c.1236A>C (p.Glu412Asp) n.2374A>C c.*797A>C (n.*797A>C) | |
| 12 | g.49185026del | CA658786206 | TUBA1A | c.1341del (p.Gly448GlufsTer?) c.1236del (p.Gly413GlufsTer?) n.2374del c.*797del (n.*797del) | ClinVar dbSNP |
| 12 | g.49185026T>A | CA384632944 | TUBA1A | c.1340A>T (p.Glu447Val) c.1235A>T (p.Glu412Val) n.2373A>T c.*796A>T (n.*796A>T) | |
| 12 | g.49185026T>C | CA384632949 | TUBA1A | c.1340A>G (p.Glu447Gly) c.1235A>G (p.Glu412Gly) n.2373A>G c.*796A>G (n.*796A>G) | |
| 12 | g.49185026T>G | CA384632948 | TUBA1A | c.1340A>C (p.Glu447Ala) c.1235A>C (p.Glu412Ala) n.2373A>C c.*796A>C (n.*796A>C) | |
| 12 | g.49185027C>A | CA384632950 | TUBA1A | c.1339G>T (p.Glu447Ter) c.1234G>T (p.Glu412Ter) n.2372G>T c.*795G>T (n.*795G>T) | dbSNP |
| 12 | g.49185027C= | CA2035021703 | TUBA1A | c.1339G= (p.Glu447=) c.1234G= (p.Glu412=) n.2372G= c.*795G= (n.*795G=) | |
| 12 | g.49185027C>G | CA384632951 | TUBA1A | c.1339G>C (p.Glu447Gln) c.1234G>C (p.Glu412Gln) n.2372G>C c.*795G>C (n.*795G>C) | |
| 12 | g.49185027C>T | CA236622239 | TUBA1A | c.1339G>A (p.Glu447Lys) c.1234G>A (p.Glu412Lys) n.2372G>A c.*795G>A (n.*795G>A) | dbSNP |
| 12 | g.49185028T>A | CA384632958 | TUBA1A | c.1338A>T (p.Glu446Asp) c.1233A>T (p.Glu411Asp) n.2371A>T c.*794A>T (n.*794A>T) | |
| 12 | g.49185028T>C | CA479716935 | TUBA1A | c.1338A>G (p.Glu446=) c.1233A>G (p.Glu411=) n.2371A>G c.*794A>G (n.*794A>G) | |
| 12 | g.49185028T>G | CA384632960 | TUBA1A | c.1338A>C (p.Glu446Asp) c.1233A>C (p.Glu411Asp) n.2371A>C c.*794A>C (n.*794A>C) | |
| 12 | g.49185029T>A | CA384632964 | TUBA1A | c.1337A>T (p.Glu446Val) c.1232A>T (p.Glu411Val) n.2370A>T c.*793A>T (n.*793A>T) | |
| 12 | g.49185029T>C | CA384632965 | TUBA1A | c.1337A>G (p.Glu446Gly) c.1232A>G (p.Glu411Gly) n.2370A>G c.*793A>G (n.*793A>G) | |
| 12 | g.49185029T>G | CA384632966 | TUBA1A | c.1337A>C (p.Glu446Ala) c.1232A>C (p.Glu411Ala) n.2370A>C c.*793A>C (n.*793A>C) | |
| 12 | g.49185030C>A | CA384632967 | TUBA1A | c.1336G>T (p.Glu446Ter) c.1231G>T (p.Glu411Ter) n.2369G>T c.*792G>T (n.*792G>T) | dbSNP |
| 12 | g.49185030C= | CA2035021707 | TUBA1A | c.1336G= (p.Glu446=) c.1231G= (p.Glu411=) n.2369G= c.*792G= (n.*792G=) | |
| 12 | g.49185030C>G | CA384632968 | TUBA1A | c.1336G>C (p.Glu446Gln) c.1231G>C (p.Glu411Gln) n.2369G>C c.*792G>C (n.*792G>C) | |
| 12 | g.49185030C>T | CA384632971 | TUBA1A | c.1336G>A (p.Glu446Lys) c.1231G>A (p.Glu411Lys) n.2369G>A c.*792G>A (n.*792G>A) | |
| 12 | g.49185031C>A | CA384632980 | TUBA1A | c.1335G>T (p.Glu445Asp) c.1230G>T (p.Glu410Asp) n.2368G>T c.*791G>T (n.*791G>T) | |
| 12 | g.49185031C= | CA2035021710 | TUBA1A | c.1335G= (p.Glu445=) c.1230G= (p.Glu410=) n.2368G= c.*791G= (n.*791G=) | |
| 12 | g.49185031C>G | CA384632976 | TUBA1A | c.1335G>C (p.Glu445Asp) c.1230G>C (p.Glu410Asp) n.2368G>C c.*791G>C (n.*791G>C) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185031C>T | CA6550198 | TUBA1A | c.1335G>A (p.Glu445=) c.1230G>A (p.Glu410=) n.2368G>A c.*791G>A (n.*791G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185032T>A | CA384632983 | TUBA1A | c.1334A>T (p.Glu445Val) c.1229A>T (p.Glu410Val) n.2367A>T c.*790A>T (n.*790A>T) | |
| 12 | g.49185032T>C | CA384632987 | TUBA1A | c.1334A>G (p.Glu445Gly) c.1229A>G (p.Glu410Gly) n.2367A>G c.*790A>G (n.*790A>G) | |
| 12 | g.49185032T>G | CA384632986 | TUBA1A | c.1334A>C (p.Glu445Ala) c.1229A>C (p.Glu410Ala) n.2367A>C c.*790A>C (n.*790A>C) | |
| 12 | g.49185033C>A | CA384632988 | TUBA1A | c.1333G>T (p.Glu445Ter) c.1228G>T (p.Glu410Ter) n.2366G>T c.*789G>T (n.*789G>T) | dbSNP |
| 12 | g.49185033C= | CA2035021716 | TUBA1A | c.1333G= (p.Glu445=) c.1228G= (p.Glu410=) n.2366G= c.*789G= (n.*789G=) | |
| 12 | g.49185033C>G | CA384632989 | TUBA1A | c.1333G>C (p.Glu445Gln) c.1228G>C (p.Glu410Gln) n.2366G>C c.*789G>C (n.*789G>C) | |
| 12 | g.49185033C>T | CA384632990 | TUBA1A | c.1333G>A (p.Glu445Lys) c.1228G>A (p.Glu410Lys) n.2366G>A c.*789G>A (n.*789G>A) | |
| 12 | g.49185034A= | CA2035021720 | TUBA1A | c.1332T= (p.Gly444=) c.1227T= (p.Gly409=) n.2365T= c.*788T= (n.*788T=) | |
| 12 | g.49185034A>C | CA479716942 | TUBA1A | c.1332T>G (p.Gly444=) c.1227T>G (p.Gly409=) n.2365T>G c.*788T>G (n.*788T>G) | |
| 12 | g.49185034A>G | CA479716943 | TUBA1A | c.1332T>C (p.Gly444=) c.1227T>C (p.Gly409=) n.2365T>C c.*788T>C (n.*788T>C) | |
| 12 | g.49185034A>T | CA479716944 | TUBA1A | c.1332T>A (p.Gly444=) c.1227T>A (p.Gly409=) n.2365T>A c.*788T>A (n.*788T>A) | dbSNP |
| 12 | g.49185035C>A | CA236622241 | TUBA1A | c.1331G>T (p.Gly444Val) c.1226G>T (p.Gly409Val) n.2364G>T c.*787G>T (n.*787G>T) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185035C= | CA2035021726 | TUBA1A | c.1331G= (p.Gly444=) c.1226G= (p.Gly409=) n.2364G= c.*787G= (n.*787G=) | |
| 12 | g.49185035C>G | CA6550199 | TUBA1A | c.1331G>C (p.Gly444Ala) c.1226G>C (p.Gly409Ala) n.2364G>C c.*787G>C (n.*787G>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185035C>T | CA384632996 | TUBA1A | c.1331G>A (p.Gly444Asp) c.1226G>A (p.Gly409Asp) n.2364G>A c.*787G>A (n.*787G>A) | |
| 12 | g.49185036C>A | CA384633002 | TUBA1A | c.1330G>T (p.Gly444Cys) c.1225G>T (p.Gly409Cys) n.2363G>T c.*786G>T (n.*786G>T) | |
| 12 | g.49185036C>G | CA384633004 | TUBA1A | c.1330G>C (p.Gly444Arg) c.1225G>C (p.Gly409Arg) n.2363G>C c.*786G>C (n.*786G>C) | |
| 12 | g.49185036C>T | CA384633005 | TUBA1A | c.1330G>A (p.Gly444Ser) c.1225G>A (p.Gly409Ser) n.2363G>A c.*786G>A (n.*786G>A) | |
| 12 | g.49185037C>A | CA384633007 | TUBA1A | c.1329G>T (p.Glu443Asp) c.1224G>T (p.Glu408Asp) n.2362G>T c.*785G>T (n.*785G>T) | |
| 12 | g.49185037C= | CA2035021731 | TUBA1A | c.1329G= (p.Glu443=) c.1224G= (p.Glu408=) n.2362G= c.*785G= (n.*785G=) | |
| 12 | g.49185037C>G | CA384633014 | TUBA1A | c.1329G>C (p.Glu443Asp) c.1224G>C (p.Glu408Asp) n.2362G>C c.*785G>C (n.*785G>C) | |
| 12 | g.49185037C>T | CA6550200 | TUBA1A | c.1329G>A (p.Glu443=) c.1224G>A (p.Glu408=) n.2362G>A c.*785G>A (n.*785G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185038T>A | CA384633034 | TUBA1A | c.1328A>T (p.Glu443Val) c.1223A>T (p.Glu408Val) n.2361A>T c.*784A>T (n.*784A>T) | |
| 12 | g.49185038T>C | CA384633032 | TUBA1A | c.1328A>G (p.Glu443Gly) c.1223A>G (p.Glu408Gly) n.2361A>G c.*784A>G (n.*784A>G) | |
| 12 | g.49185038T>G | CA384633033 | TUBA1A | c.1328A>C (p.Glu443Ala) c.1223A>C (p.Glu408Ala) n.2361A>C c.*784A>C (n.*784A>C) | |
| 12 | g.49185039C>A | CA384633035 | TUBA1A | c.1327G>T (p.Glu443Ter) c.1222G>T (p.Glu408Ter) n.2360G>T c.*783G>T (n.*783G>T) | dbSNP |
| 12 | g.49185039C= | CA2035021736 | TUBA1A | c.1327G= (p.Glu443=) c.1222G= (p.Glu408=) n.2360G= c.*783G= (n.*783G=) | |
| 12 | g.49185039C>G | CA384633036 | TUBA1A | c.1327G>C (p.Glu443Gln) c.1222G>C (p.Glu408Gln) n.2360G>C c.*783G>C (n.*783G>C) | gnomAD v4 |
| 12 | g.49185039C>T | CA384633039 | TUBA1A | c.1327G>A (p.Glu443Lys) c.1222G>A (p.Glu408Lys) n.2360G>A c.*783G>A (n.*783G>A) | |
| 12 | g.49185040T>A | CA479716952 | TUBA1A | c.1326A>T (p.Gly442=) c.1221A>T (p.Gly407=) n.2359A>T c.*782A>T (n.*782A>T) | |
| 12 | g.49185040T>C | CA479716953 | TUBA1A | c.1326A>G (p.Gly442=) c.1221A>G (p.Gly407=) n.2359A>G c.*782A>G (n.*782A>G) | gnomAD v4 |
| 12 | g.49185040T>G | CA479716955 | TUBA1A | c.1326A>C (p.Gly442=) c.1221A>C (p.Gly407=) n.2359A>C c.*782A>C (n.*782A>C) | dbSNP |
| 12 | g.49185040T= | CA2035021738 | TUBA1A | c.1326A= (p.Gly442=) c.1221A= (p.Gly407=) n.2359A= c.*782A= (n.*782A=) | |
| 12 | g.49185041C>A | CA384633042 | TUBA1A | c.1325G>T (p.Gly442Val) c.1220G>T (p.Gly407Val) n.2358G>T c.*781G>T (n.*781G>T) | |
| 12 | g.49185041C>G | CA384633046 | TUBA1A | c.1325G>C (p.Gly442Ala) c.1220G>C (p.Gly407Ala) n.2358G>C c.*781G>C (n.*781G>C) | |
| 12 | g.49185041C>T | CA384633053 | TUBA1A | c.1325G>A (p.Gly442Glu) c.1220G>A (p.Gly407Glu) n.2358G>A c.*781G>A (n.*781G>A) | gnomAD v4 |
| 12 | g.49185042C>A | CA384633056 | TUBA1A | c.1324G>T (p.Gly442Ter) c.1219G>T (p.Gly407Ter) n.2357G>T c.*780G>T (n.*780G>T) | dbSNP |
| 12 | g.49185042C= | CA2035021740 | TUBA1A | c.1324G= (p.Gly442=) c.1219G= (p.Gly407=) n.2357G= c.*780G= (n.*780G=) | |
| 12 | g.49185042C>G | CA384633057 | TUBA1A | c.1324G>C (p.Gly442Arg) c.1219G>C (p.Gly407Arg) n.2357G>C c.*780G>C (n.*780G>C) | |
| 12 | g.49185042C>T | CA384633058 | TUBA1A | c.1324G>A (p.Gly442Arg) c.1219G>A (p.Gly407Arg) n.2357G>A c.*780G>A (n.*780G>A) | |
| 12 | g.49185043T>A | CA384633059 | TUBA1A | c.1323A>T (p.Glu441Asp) c.1218A>T (p.Glu406Asp) n.2356A>T c.*779A>T (n.*779A>T) | |
| 12 | g.49185043T>C | CA479716959 | TUBA1A | c.1323A>G (p.Glu441=) c.1218A>G (p.Glu406=) n.2356A>G c.*779A>G (n.*779A>G) | |
| 12 | g.49185043T>G | CA384633062 | TUBA1A | c.1323A>C (p.Glu441Asp) c.1218A>C (p.Glu406Asp) n.2356A>C c.*779A>C (n.*779A>C) | gnomAD v4 |
| 12 | g.49185044T>A | CA384633078 | TUBA1A | c.1322A>T (p.Glu441Val) c.1217A>T (p.Glu406Val) n.2355A>T c.*778A>T (n.*778A>T) | |
| 12 | g.49185044T>C | CA384633077 | TUBA1A | c.1322A>G (p.Glu441Gly) c.1217A>G (p.Glu406Gly) n.2355A>G c.*778A>G (n.*778A>G) | |
| 12 | g.49185044T>G | CA384633076 | TUBA1A | c.1322A>C (p.Glu441Ala) c.1217A>C (p.Glu406Ala) n.2355A>C c.*778A>C (n.*778A>C) | |
| 12 | g.49185045C>A | CA384633087 | TUBA1A | c.1321G>T (p.Glu441Ter) c.1216G>T (p.Glu406Ter) n.2354G>T c.*777G>T (n.*777G>T) | dbSNP |
| 12 | g.49185045C= | CA2035021743 | TUBA1A | c.1321G= (p.Glu441=) c.1216G= (p.Glu406=) n.2354G= c.*777G= (n.*777G=) | |
| 12 | g.49185045C>G | CA384633079 | TUBA1A | c.1321G>C (p.Glu441Gln) c.1216G>C (p.Glu406Gln) n.2354G>C c.*777G>C (n.*777G>C) | COSMIC |
| 12 | g.49185045C>T | CA384633082 | TUBA1A | c.1321G>A (p.Glu441Lys) c.1216G>A (p.Glu406Lys) n.2354G>A c.*777G>A (n.*777G>A) | |
| 12 | g.49185046A= | CA2035021746 | TUBA1A | c.1320T= (p.Val440=) c.1215T= (p.Val405=) n.2353T= c.*776T= (n.*776T=) | |
| 12 | g.49185046A>C | CA479716964 | TUBA1A | c.1320T>G (p.Val440=) c.1215T>G (p.Val405=) n.2353T>G c.*776T>G (n.*776T>G) | dbSNP |
| 12 | g.49185046A>G | CA236622247 | TUBA1A | c.1320T>C (p.Val440=) c.1215T>C (p.Val405=) n.2353T>C c.*776T>C (n.*776T>C) | dbSNP |
| 12 | g.49185046A>T | CA479716967 | TUBA1A | c.1320T>A (p.Val440=) c.1215T>A (p.Val405=) n.2353T>A c.*776T>A (n.*776T>A) | |
| 12 | g.49185047A>C | CA384633105 | TUBA1A | c.1319T>G (p.Val440Gly) c.1214T>G (p.Val405Gly) n.2352T>G c.*775T>G (n.*775T>G) | |
| 12 | g.49185047A>G | CA384633109 | TUBA1A | c.1319T>C (p.Val440Ala) c.1214T>C (p.Val405Ala) n.2352T>C c.*775T>C (n.*775T>C) | |
| 12 | g.49185047A>T | CA384633113 | TUBA1A | c.1319T>A (p.Val440Asp) c.1214T>A (p.Val405Asp) n.2352T>A c.*775T>A (n.*775T>A) | |
| 12 | g.49185048C>A | CA384633139 | TUBA1A | c.1318G>T (p.Val440Phe) c.1213G>T (p.Val405Phe) n.2351G>T c.*774G>T (n.*774G>T) | |
| 12 | g.49185048C= | CA2035021749 | TUBA1A | c.1318G= (p.Val440=) c.1213G= (p.Val405=) n.2351G= c.*774G= (n.*774G=) | |
| 12 | g.49185048C>G | CA384633141 | TUBA1A | c.1318G>C (p.Val440Leu) c.1213G>C (p.Val405Leu) n.2351G>C c.*774G>C (n.*774G>C) | gnomAD v4 |
| 12 | g.49185048C>T | CA6550201 | TUBA1A | c.1318G>A (p.Val440Ile) c.1213G>A (p.Val405Ile) n.2351G>A c.*774G>A (n.*774G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185049A>C | CA479716972 | TUBA1A | c.1317T>G (p.Ser439=) c.1212T>G (p.Ser404=) n.2350T>G c.*773T>G (n.*773T>G) | |
| 12 | g.49185049A>G | CA479716973 | TUBA1A | c.1317T>C (p.Ser439=) c.1212T>C (p.Ser404=) n.2350T>C c.*773T>C (n.*773T>C) | |
| 12 | g.49185049A>T | CA479716974 | TUBA1A | c.1317T>A (p.Ser439=) c.1212T>A (p.Ser404=) n.2350T>A c.*773T>A (n.*773T>A) | |
| 12 | g.49185050G>A | CA384633146 | TUBA1A | c.1316C>T (p.Ser439Phe) c.1211C>T (p.Ser404Phe) n.2349C>T c.*772C>T (n.*772C>T) | |
| 12 | g.49185050G>C | CA384633156 | TUBA1A | c.1316C>G (p.Ser439Cys) c.1211C>G (p.Ser404Cys) n.2349C>G c.*772C>G (n.*772C>G) | |
| 12 | g.49185050G>T | CA384633159 | TUBA1A | c.1316C>A (p.Ser439Tyr) c.1211C>A (p.Ser404Tyr) n.2349C>A c.*772C>A (n.*772C>A) | |
| 12 | g.49185051A>C | CA384633174 | TUBA1A | c.1315T>G (p.Ser439Ala) c.1210T>G (p.Ser404Ala) n.2348T>G c.*771T>G (n.*771T>G) | |
| 12 | g.49185051A>G | CA384633176 | TUBA1A | c.1315T>C (p.Ser439Pro) c.1210T>C (p.Ser404Pro) n.2348T>C c.*771T>C (n.*771T>C) | |
| 12 | g.49185051A>T | CA384633172 | TUBA1A | c.1315T>A (p.Ser439Thr) c.1210T>A (p.Ser404Thr) n.2348T>A c.*771T>A (n.*771T>A) | |
| 12 | g.49185052A>C | CA384633178 | TUBA1A | c.1314T>G (p.Asp438Glu) c.1209T>G (p.Asp403Glu) n.2347T>G c.*770T>G (n.*770T>G) | |
| 12 | g.49185052A>G | CA479716978 | TUBA1A | c.1314T>C (p.Asp438=) c.1209T>C (p.Asp403=) n.2347T>C c.*770T>C (n.*770T>C) | |
| 12 | g.49185052A>T | CA384633181 | TUBA1A | c.1314T>A (p.Asp438Glu) c.1209T>A (p.Asp403Glu) n.2347T>A c.*770T>A (n.*770T>A) | |
| 12 | g.49185053T>A | CA384633191 | TUBA1A | c.1313A>T (p.Asp438Val) c.1208A>T (p.Asp403Val) n.2346A>T c.*769A>T (n.*769A>T) | |
| 12 | g.49185053T>C | CA384633194 | TUBA1A | c.1313A>G (p.Asp438Gly) c.1208A>G (p.Asp403Gly) n.2346A>G c.*769A>G (n.*769A>G) | |
| 12 | g.49185053T>G | CA384633198 | TUBA1A | c.1313A>C (p.Asp438Ala) c.1208A>C (p.Asp403Ala) n.2346A>C c.*769A>C (n.*769A>C) | |
| 12 | g.49185054C>A | CA384633205 | TUBA1A | c.1312G>T (p.Asp438Tyr) c.1207G>T (p.Asp403Tyr) n.2345G>T c.*768G>T (n.*768G>T) | |
| 12 | g.49185054C>G | CA384633202 | TUBA1A | c.1312G>C (p.Asp438His) c.1207G>C (p.Asp403His) n.2345G>C c.*768G>C (n.*768G>C) | |
| 12 | g.49185054C>T | CA384633204 | TUBA1A | c.1312G>A (p.Asp438Asn) c.1207G>A (p.Asp403Asn) n.2345G>A c.*768G>A (n.*768G>A) | |
| 12 | g.49185055C>A | CA479716987 | TUBA1A | c.1311G>T (p.Val437=) c.1206G>T (p.Val402=) n.2344G>T c.*767G>T (n.*767G>T) | |
| 12 | g.49185055C>G | CA479716989 | TUBA1A | c.1311G>C (p.Val437=) c.1206G>C (p.Val402=) n.2344G>C c.*767G>C (n.*767G>C) | gnomAD v4 |
| 12 | g.49185055C>T | CA479716990 | TUBA1A | c.1311G>A (p.Val437=) c.1206G>A (p.Val402=) n.2344G>A c.*767G>A (n.*767G>A) | gnomAD v4 |
| 12 | g.49185056A>C | CA384633206 | TUBA1A | c.1310T>G (p.Val437Gly) c.1205T>G (p.Val402Gly) n.2343T>G c.*766T>G (n.*766T>G) | |
| 12 | g.49185056A>G | CA384633208 | TUBA1A | c.1310T>C (p.Val437Ala) c.1205T>C (p.Val402Ala) n.2343T>C c.*766T>C (n.*766T>C) | |
| 12 | g.49185056A>T | CA384633210 | TUBA1A | c.1310T>A (p.Val437Glu) c.1205T>A (p.Val402Glu) n.2343T>A c.*766T>A (n.*766T>A) | |
| 12 | g.49185057C>A | CA384633213 | TUBA1A | c.1309G>T (p.Val437Leu) c.1204G>T (p.Val402Leu) n.2342G>T c.*765G>T (n.*765G>T) | |
| 12 | g.49185057C>G | CA384633217 | TUBA1A | c.1309G>C (p.Val437Leu) c.1204G>C (p.Val402Leu) n.2342G>C c.*765G>C (n.*765G>C) | |
| 12 | g.49185057C>T | CA384633221 | TUBA1A | c.1309G>A (p.Val437Met) c.1204G>A (p.Val402Met) n.2342G>A c.*765G>A (n.*765G>A) | |
| 12 | g.49185058A>C | CA479716995 | TUBA1A | c.1308T>G (p.Gly436=) c.1203T>G (p.Gly401=) n.2341T>G c.*764T>G (n.*764T>G) | |
| 12 | g.49185058A>G | CA479716996 | TUBA1A | c.1308T>C (p.Gly436=) c.1203T>C (p.Gly401=) n.2341T>C c.*764T>C (n.*764T>C) | |
| 12 | g.49185058A>T | CA479716997 | TUBA1A | c.1308T>A (p.Gly436=) c.1203T>A (p.Gly401=) n.2341T>A c.*764T>A (n.*764T>A) | |
| 12 | g.49185059C>A | CA384633229 | TUBA1A | c.1307G>T (p.Gly436Val) c.1202G>T (p.Gly401Val) n.2340G>T c.*763G>T (n.*763G>T) | |
| 12 | g.49185059C= | CA2035021753 | TUBA1A | c.1307G= (p.Gly436=) c.1202G= (p.Gly401=) n.2340G= c.*763G= (n.*763G=) | |
| 12 | g.49185059C>G | CA384633227 | TUBA1A | c.1307G>C (p.Gly436Ala) c.1202G>C (p.Gly401Ala) n.2340G>C c.*763G>C (n.*763G>C) | |
| 12 | g.49185059C>T | CA384633226 | TUBA1A | c.1307G>A (p.Gly436Asp) c.1202G>A (p.Gly401Asp) n.2340G>A c.*763G>A (n.*763G>A) | ClinVar dbSNP |
| 12 | g.49185060C>A | CA384633231 | TUBA1A | c.1306G>T (p.Gly436Cys) c.1201G>T (p.Gly401Cys) n.2339G>T c.*762G>T (n.*762G>T) | |
| 12 | g.49185060C= | CA2035021761 | TUBA1A | c.1306G= (p.Gly436=) c.1201G= (p.Gly401=) n.2339G= c.*762G= (n.*762G=) | |
| 12 | g.49185060C>G | CA384633237 | TUBA1A | c.1306G>C (p.Gly436Arg) c.1201G>C (p.Gly401Arg) n.2339G>C c.*762G>C (n.*762G>C) | ClinVar dbSNP |
| 12 | g.49185060C>T | CA384633244 | TUBA1A | c.1306G>A (p.Gly436Ser) c.1201G>A (p.Gly401Ser) n.2339G>A c.*762G>A (n.*762G>A) | |
| 12 | g.49185061A>C | CA479717001 | TUBA1A | c.1305T>G (p.Val435=) c.1200T>G (p.Val400=) n.2338T>G c.*761T>G (n.*761T>G) | |
| 12 | g.49185061A>G | CA479717002 | TUBA1A | c.1305T>C (p.Val435=) c.1200T>C (p.Val400=) n.2338T>C c.*761T>C (n.*761T>C) | |
| 12 | g.49185061A>T | CA479717003 | TUBA1A | c.1305T>A (p.Val435=) c.1200T>A (p.Val400=) n.2338T>A c.*761T>A (n.*761T>A) | |
| 12 | g.49185062A= | CA2035021774 | TUBA1A | c.1304T= (p.Val435=) c.1199T= (p.Val400=) n.2337T= c.*760T= (n.*760T=) | |
| 12 | g.49185062A>C | CA384633250 | TUBA1A | c.1304T>G (p.Val435Gly) c.1199T>G (p.Val400Gly) n.2337T>G c.*760T>G (n.*760T>G) | |
| 12 | g.49185062A>G | CA384633254 | TUBA1A | c.1304T>C (p.Val435Ala) c.1199T>C (p.Val400Ala) n.2337T>C c.*760T>C (n.*760T>C) | ClinVar dbSNP |
| 12 | g.49185062A>T | CA384633258 | TUBA1A | c.1304T>A (p.Val435Asp) c.1199T>A (p.Val400Asp) n.2337T>A c.*760T>A (n.*760T>A) | |
| 12 | g.49185062_49185065delinsACCT | CA2035021773 | TUBA1A | c.1301_1304delinsAGGT (p.Glu434=) c.1196_1199delinsAGGT (p.Glu399=) n.2334_2337delinsAGGT c.*757_*760delinsAGGT (n.*757_*760delinsAGGT) | |
| 12 | g.49185063C>A | CA384633264 | TUBA1A | c.1303G>T (p.Val435Phe) c.1198G>T (p.Val400Phe) n.2336G>T c.*759G>T (n.*759G>T) | |
| 12 | g.49185063C>G | CA384633274 | TUBA1A | c.1303G>C (p.Val435Leu) c.1198G>C (p.Val400Leu) n.2336G>C c.*759G>C (n.*759G>C) | |
| 12 | g.49185063C>T | CA384633284 | TUBA1A | c.1303G>A (p.Val435Ile) c.1198G>A (p.Val400Ile) n.2336G>A c.*759G>A (n.*759G>A) | |
| 12 | g.49185064del | CA2618625228 | TUBA1A | c.1303del (p.Val435LeufsTer?) c.1198del (p.Val400LeufsTer?) n.2336del c.*759del (n.*759del) | gnomAD v4 |
| 12 | g.49185067_49185069del | CA645372915 | TUBA1A | c.1301_1303del (p.Glu434del) c.1196_1198del (p.Glu399del) n.2334_2336del c.*757_*759del (n.*757_*759del) | ClinVar dbSNP |
| 12 | g.49185064C>A | CA384633288 | TUBA1A | c.1302G>T (p.Glu434Asp) c.1197G>T (p.Glu399Asp) n.2335G>T c.*758G>T (n.*758G>T) | |
| 12 | g.49185064C= | CA2035021786 | TUBA1A | c.1302G= (p.Glu434=) c.1197G= (p.Glu399=) n.2335G= c.*758G= (n.*758G=) | |
| 12 | g.49185064C>G | CA384633307 | TUBA1A | c.1302G>C (p.Glu434Asp) c.1197G>C (p.Glu399Asp) n.2335G>C c.*758G>C (n.*758G>C) | |
| 12 | g.49185064C>T | CA479717007 | TUBA1A | c.1302G>A (p.Glu434=) c.1197G>A (p.Glu399=) n.2335G>A c.*758G>A (n.*758G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185067_49185081del | CA2499221727 | TUBA1A | c.1288_1302del (p.Lys430_Glu434del) c.1183_1197del (p.Lys395_Glu399del) n.2321_2335del c.*744_*758del (n.*744_*758del) | ClinVar dbSNP |
| 12 | g.49185065T>A | CA384633326 | TUBA1A | c.1301A>T (p.Glu434Val) c.1196A>T (p.Glu399Val) n.2334A>T c.*757A>T (n.*757A>T) | |
| 12 | g.49185065T>C | CA384633329 | TUBA1A | c.1301A>G (p.Glu434Gly) c.1196A>G (p.Glu399Gly) n.2334A>G c.*757A>G (n.*757A>G) | |
| 12 | g.49185065T>G | CA384633331 | TUBA1A | c.1301A>C (p.Glu434Ala) c.1196A>C (p.Glu399Ala) n.2334A>C c.*757A>C (n.*757A>C) | |
| 12 | g.49185066C>A | CA384633340 | TUBA1A | c.1300G>T (p.Glu434Ter) c.1195G>T (p.Glu399Ter) n.2333G>T c.*756G>T (n.*756G>T) | |
| 12 | g.49185066C>G | CA384633338 | TUBA1A | c.1300G>C (p.Glu434Gln) c.1195G>C (p.Glu399Gln) n.2333G>C c.*756G>C (n.*756G>C) | |
| 12 | g.49185066C>T | CA384633336 | TUBA1A | c.1300G>A (p.Glu434Lys) c.1195G>A (p.Glu399Lys) n.2333G>A c.*756G>A (n.*756G>A) | |
| 12 | g.49185067C>A | CA384633342 | TUBA1A | c.1299G>T (p.Glu433Asp) c.1194G>T (p.Glu398Asp) n.2332G>T c.*755G>T (n.*755G>T) | |
| 12 | g.49185067C= | CA2035021791 | TUBA1A | c.1299G= (p.Glu433=) c.1194G= (p.Glu398=) n.2332G= c.*755G= (n.*755G=) | |
| 12 | g.49185067C>G | CA384633359 | TUBA1A | c.1299G>C (p.Glu433Asp) c.1194G>C (p.Glu398Asp) n.2332G>C c.*755G>C (n.*755G>C) | |
| 12 | g.49185067C>T | CA6550202 | TUBA1A | c.1299G>A (p.Glu433=) c.1194G>A (p.Glu398=) n.2332G>A c.*755G>A (n.*755G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.49185068T>A | CA384633385 | TUBA1A | c.1298A>T (p.Glu433Val) c.1193A>T (p.Glu398Val) n.2331A>T c.*754A>T (n.*754A>T) | |
| 12 | g.49185068T>C | CA384633390 | TUBA1A | c.1298A>G (p.Glu433Gly) c.1193A>G (p.Glu398Gly) n.2331A>G c.*754A>G (n.*754A>G) | |
| 12 | g.49185068T>G | CA384633391 | TUBA1A | c.1298A>C (p.Glu433Ala) c.1193A>C (p.Glu398Ala) n.2331A>C c.*754A>C (n.*754A>C) | |
| 12 | g.49185069C>A | CA384633392 | TUBA1A | c.1297G>T (p.Glu433Ter) c.1192G>T (p.Glu398Ter) n.2330G>T c.*753G>T (n.*753G>T) | |
| 12 | g.49185069C>G | CA384633393 | TUBA1A | c.1297G>C (p.Glu433Gln) c.1192G>C (p.Glu398Gln) n.2330G>C c.*753G>C (n.*753G>C) | |
| 12 | g.49185069C>T | CA384633394 | TUBA1A | c.1297G>A (p.Glu433Lys) c.1192G>A (p.Glu398Lys) n.2330G>A c.*753G>A (n.*753G>A) | |
| 12 | g.49185070A>C | CA384633399 | TUBA1A | c.1296T>G (p.Tyr432Ter) c.1191T>G (p.Tyr397Ter) n.2329T>G c.*752T>G (n.*752T>G) | |
| 12 | g.49185070A>G | CA479717012 | TUBA1A | c.1296T>C (p.Tyr432=) c.1191T>C (p.Tyr397=) n.2329T>C c.*752T>C (n.*752T>C) | |
| 12 | g.49185070A>T | CA384633403 | TUBA1A | c.1296T>A (p.Tyr432Ter) c.1191T>A (p.Tyr397Ter) n.2329T>A c.*752T>A (n.*752T>A) | |
| 12 | g.49185071T>A | CA384633407 | TUBA1A | c.1295A>T (p.Tyr432Phe) c.1190A>T (p.Tyr397Phe) n.2328A>T c.*751A>T (n.*751A>T) | |
| 12 | g.49185071T>C | CA384633417 | TUBA1A | c.1295A>G (p.Tyr432Cys) c.1190A>G (p.Tyr397Cys) n.2328A>G c.*751A>G (n.*751A>G) | |
| 12 | g.49185071T>G | CA384633421 | TUBA1A | c.1295A>C (p.Tyr432Ser) c.1190A>C (p.Tyr397Ser) n.2328A>C c.*751A>C (n.*751A>C) | |
| 12 | g.49185072A>C | CA384633436 | TUBA1A | c.1294T>G (p.Tyr432Asp) c.1189T>G (p.Tyr397Asp) n.2327T>G c.*750T>G (n.*750T>G) | |
| 12 | g.49185072A>G | CA384633439 | TUBA1A | c.1294T>C (p.Tyr432His) c.1189T>C (p.Tyr397His) n.2327T>C c.*750T>C (n.*750T>C) | |
| 12 | g.49185072A>T | CA384633427 | TUBA1A | c.1294T>A (p.Tyr432Asn) c.1189T>A (p.Tyr397Asn) n.2327T>A c.*750T>A (n.*750T>A) | |
| 12 | g.49185073A>C | CA384633442 | TUBA1A | c.1293T>G (p.Asp431Glu) c.1188T>G (p.Asp396Glu) n.2326T>G c.*749T>G (n.*749T>G) | |
| 12 | g.49185073A>G | CA479717014 | TUBA1A | c.1293T>C (p.Asp431=) c.1188T>C (p.Asp396=) n.2326T>C c.*749T>C (n.*749T>C) | |
| 12 | g.49185073A>T | CA384633449 | TUBA1A | c.1293T>A (p.Asp431Glu) c.1188T>A (p.Asp396Glu) n.2326T>A c.*749T>A (n.*749T>A) | |
| 12 | g.49185074T>A | CA384633454 | TUBA1A | c.1292A>T (p.Asp431Val) c.1187A>T (p.Asp396Val) n.2325A>T c.*748A>T (n.*748A>T) | |
| 12 | g.49185074T>C | CA384633456 | TUBA1A | c.1292A>G (p.Asp431Gly) c.1187A>G (p.Asp396Gly) n.2325A>G c.*748A>G (n.*748A>G) | gnomAD v4 |
| 12 | g.49185074T>G | CA384633461 | TUBA1A | c.1292A>C (p.Asp431Ala) c.1187A>C (p.Asp396Ala) n.2325A>C c.*748A>C (n.*748A>C) | |
| 12 | g.49185075C>A | CA384633470 | TUBA1A | c.1291G>T (p.Asp431Tyr) c.1186G>T (p.Asp396Tyr) n.2324G>T c.*747G>T (n.*747G>T) | COSMIC |
| 12 | g.49185075C= | CA2035021798 | TUBA1A | c.1291G= (p.Asp431=) c.1186G= (p.Asp396=) n.2324G= c.*747G= (n.*747G=) | |
| 12 | g.49185075C>G | CA384633471 | TUBA1A | c.1291G>C (p.Asp431His) c.1186G>C (p.Asp396His) n.2324G>C c.*747G>C (n.*747G>C) | |
| 12 | g.49185075C>T | CA384633475 | TUBA1A | c.1291G>A (p.Asp431Asn) c.1186G>A (p.Asp396Asn) n.2324G>A c.*747G>A (n.*747G>A) | ClinVar dbSNP gnomAD v2 |
| 12 | g.49185076C>A | CA384633492 | TUBA1A | c.1290G>T (p.Lys430Asn) c.1185G>T (p.Lys395Asn) n.2323G>T c.*746G>T (n.*746G>T) | |
| 12 | g.49185076C>G | CA384633497 | TUBA1A | c.1290G>C (p.Lys430Asn) c.1185G>C (p.Lys395Asn) n.2323G>C c.*746G>C (n.*746G>C) | |
| 12 | g.49185076C>T | CA479717015 | TUBA1A | c.1290G>A (p.Lys430=) c.1185G>A (p.Lys395=) n.2323G>A c.*746G>A (n.*746G>A) | dbSNP |
| 12 | g.49185077T>A | CA384633503 | TUBA1A | c.1289A>T (p.Lys430Met) c.1184A>T (p.Lys395Met) n.2322A>T c.*745A>T (n.*745A>T) | |
| 12 | g.49185077T>C | CA384633506 | TUBA1A | c.1289A>G (p.Lys430Arg) c.1184A>G (p.Lys395Arg) n.2322A>G c.*745A>G (n.*745A>G) | |
| 12 | g.49185077T>G | CA384633541 | TUBA1A | c.1289A>C (p.Lys430Thr) c.1184A>C (p.Lys395Thr) n.2322A>C c.*745A>C (n.*745A>C) | |
| 12 | g.49185078T>A | CA384633548 | TUBA1A | c.1288A>T (p.Lys430Ter) c.1183A>T (p.Lys395Ter) n.2321A>T c.*744A>T (n.*744A>T) | |
| 12 | g.49185078T>C | CA384633544 | TUBA1A | c.1288A>G (p.Lys430Glu) c.1183A>G (p.Lys395Glu) n.2321A>G c.*744A>G (n.*744A>G) | |
| 12 | g.49185078T>G | CA384633546 | TUBA1A | c.1288A>C (p.Lys430Gln) c.1183A>C (p.Lys395Gln) n.2321A>C c.*744A>C (n.*744A>C) | |
| 12 | g.49185079C>A | CA384633550 | TUBA1A | c.1287G>T (p.Glu429Asp) c.1182G>T (p.Glu394Asp) n.2320G>T c.*743G>T (n.*743G>T) | |
| 12 | g.49185079C>G | CA384633562 | TUBA1A | c.1287G>C (p.Glu429Asp) c.1182G>C (p.Glu394Asp) n.2320G>C c.*743G>C (n.*743G>C) | |
| 12 | g.49185079C>T | CA479717018 | TUBA1A | c.1287G>A (p.Glu429=) c.1182G>A (p.Glu394=) n.2320G>A c.*743G>A (n.*743G>A) | |
| 12 | g.49185080T>A | CA384633568 | TUBA1A | c.1286A>T (p.Glu429Val) c.1181A>T (p.Glu394Val) n.2319A>T c.*742A>T (n.*742A>T) | |
| 12 | g.49185080T>C | CA384633573 | TUBA1A | c.1286A>G (p.Glu429Gly) c.1181A>G (p.Glu394Gly) n.2319A>G c.*742A>G (n.*742A>G) | |
| 12 | g.49185080T>G | CA384633584 | TUBA1A | c.1286A>C (p.Glu429Ala) c.1181A>C (p.Glu394Ala) n.2319A>C c.*742A>C (n.*742A>C) | |
| 12 | g.49185081C>A | CA384633587 | TUBA1A | c.1285G>T (p.Glu429Ter) c.1180G>T (p.Glu394Ter) n.2318G>T c.*741G>T (n.*741G>T) | |
| 12 | g.49185081C= | CA2035021804 | TUBA1A | c.1285G= (p.Glu429=) c.1180G= (p.Glu394=) n.2318G= c.*741G= (n.*741G=) | |
| 12 | g.49185081C>G | CA384633591 | TUBA1A | c.1285G>C (p.Glu429Gln) c.1180G>C (p.Glu394Gln) n.2318G>C c.*741G>C (n.*741G>C) | ClinVar dbSNP |
| 12 | g.49185081C>T | CA384633596 | TUBA1A | c.1285G>A (p.Glu429Lys) c.1180G>A (p.Glu394Lys) n.2318G>A c.*741G>A (n.*741G>A) | |
| 12 | g.49185082A>C | CA479717021 | TUBA1A | c.1284T>G (p.Leu428=) c.1179T>G (p.Leu393=) n.2317T>G c.*740T>G (n.*740T>G) | |
| 12 | g.49185082A>G | CA479717024 | TUBA1A | c.1284T>C (p.Leu428=) c.1179T>C (p.Leu393=) n.2317T>C c.*740T>C (n.*740T>C) | |
| 12 | g.49185082A>T | CA479717026 | TUBA1A | c.1284T>A (p.Leu428=) c.1179T>A (p.Leu393=) n.2317T>A c.*740T>A (n.*740T>A) | |
| 12 | g.49185083A>C | CA384633604 | TUBA1A | c.1283T>G (p.Leu428Arg) c.1178T>G (p.Leu393Arg) n.2316T>G c.*739T>G (n.*739T>G) | |
| 12 | g.49185083A>G | CA384633620 | TUBA1A | c.1283T>C (p.Leu428Pro) c.1178T>C (p.Leu393Pro) n.2316T>C c.*739T>C (n.*739T>C) | |
| 12 | g.49185083A>T | CA384633625 | TUBA1A | c.1283T>A (p.Leu428His) c.1178T>A (p.Leu393His) n.2316T>A c.*739T>A (n.*739T>A) | ClinVar |
| 12 | g.49185084G>A | CA384633635 | TUBA1A | c.1282C>T (p.Leu428Phe) c.1177C>T (p.Leu393Phe) n.2315C>T c.*738C>T (n.*738C>T) | |
| 12 | g.49185084G>C | CA384633646 | TUBA1A | c.1282C>G (p.Leu428Val) c.1177C>G (p.Leu393Val) n.2315C>G c.*738C>G (n.*738C>G) | |
| 12 | g.49185084G>T | CA384633640 | TUBA1A | c.1282C>A (p.Leu428Ile) c.1177C>A (p.Leu393Ile) n.2315C>A c.*738C>A (n.*738C>A) | |
| 12 | g.49185085G>A | CA479717027 | TUBA1A | c.1281C>T (p.Ala427=) c.1176C>T (p.Ala392=) n.2314C>T c.*737C>T (n.*737C>T) | |
| 12 | g.49185085G>C | CA479717030 | TUBA1A | c.1281C>G (p.Ala427=) c.1176C>G (p.Ala392=) n.2314C>G c.*737C>G (n.*737C>G) | |
| 12 | g.49185085G>T | CA479717029 | TUBA1A | c.1281C>A (p.Ala427=) c.1176C>A (p.Ala392=) n.2314C>A c.*737C>A (n.*737C>A) | |
| 12 | g.49185086G>A | CA384633656 | TUBA1A | c.1280C>T (p.Ala427Val) c.1175C>T (p.Ala392Val) n.2313C>T c.*736C>T (n.*736C>T) | |
| 12 | g.49185086G>C | CA6550203 | TUBA1A | c.1280C>G (p.Ala427Gly) c.1175C>G (p.Ala392Gly) n.2313C>G c.*736C>G (n.*736C>G) | dbSNP ExAC gnomAD v2 |
| 12 | g.49185086G= | CA2035021812 | TUBA1A | c.1280C= (p.Ala427=) c.1175C= (p.Ala392=) n.2313C= c.*736C= (n.*736C=) | |
| 12 | g.49185086G>T | CA384633659 | TUBA1A | c.1280C>A (p.Ala427Asp) c.1175C>A (p.Ala392Asp) n.2313C>A c.*736C>A (n.*736C>A) | |
| 12 | g.49185087C>A | CA384633667 | TUBA1A | c.1279G>T (p.Ala427Ser) c.1174G>T (p.Ala392Ser) n.2312G>T c.*735G>T (n.*735G>T) | |
| 12 | g.49185087C>G | CA384633672 | TUBA1A | c.1279G>C (p.Ala427Pro) c.1174G>C (p.Ala392Pro) n.2312G>C c.*735G>C (n.*735G>C) | |
| 12 | g.49185087C>T | CA384633669 | TUBA1A | c.1279G>A (p.Ala427Thr) c.1174G>A (p.Ala392Thr) n.2312G>A c.*735G>A (n.*735G>A) | |
| 12 | g.49185088A>C | CA479717032 | TUBA1A | c.1278T>G (p.Ala426=) c.1173T>G (p.Ala391=) n.2311T>G c.*734T>G (n.*734T>G) | |
| 12 | g.49185088A>G | CA479717033 | TUBA1A | c.1278T>C (p.Ala426=) c.1173T>C (p.Ala391=) n.2311T>C c.*734T>C (n.*734T>C) | |
| 12 | g.49185088A>T | CA479717034 | TUBA1A | c.1278T>A (p.Ala426=) c.1173T>A (p.Ala391=) n.2311T>A c.*734T>A (n.*734T>A) | |
| 12 | g.49185089G>A | CA384633677 | TUBA1A | c.1277C>T (p.Ala426Val) c.1172C>T (p.Ala391Val) n.2310C>T c.*733C>T (n.*733C>T) | |
| 12 | g.49185089G>C | CA384633687 | TUBA1A | c.1277C>G (p.Ala426Gly) c.1172C>G (p.Ala391Gly) n.2310C>G c.*733C>G (n.*733C>G) | |
| 12 | g.49185089G>T | CA384633707 | TUBA1A | c.1277C>A (p.Ala426Asp) c.1172C>A (p.Ala391Asp) n.2310C>A c.*733C>A (n.*733C>A) | |
| 12 | g.49185090C>A | CA384633714 | TUBA1A | c.1276G>T (p.Ala426Ser) c.1171G>T (p.Ala391Ser) n.2309G>T c.*732G>T (n.*732G>T) | |
| 12 | g.49185090C>G | CA384633723 | TUBA1A | c.1276G>C (p.Ala426Pro) c.1171G>C (p.Ala391Pro) n.2309G>C c.*732G>C (n.*732G>C) | |
| 12 | g.49185090C>T | CA384633730 | TUBA1A | c.1276G>A (p.Ala426Thr) c.1171G>A (p.Ala391Thr) n.2309G>A c.*732G>A (n.*732G>A) | ClinVar |
| 12 | g.49185091C>A | CA384633731 | TUBA1A | c.1275G>T (p.Met425Ile) c.1170G>T (p.Met390Ile) n.2308G>T c.*731G>T (n.*731G>T) | |
| 12 | g.49185091C>G | CA384633732 | TUBA1A | c.1275G>C (p.Met425Ile) c.1170G>C (p.Met390Ile) n.2308G>C c.*731G>C (n.*731G>C) | |
| 12 | g.49185091C>T | CA384633734 | TUBA1A | c.1275G>A (p.Met425Ile) c.1170G>A (p.Met390Ile) n.2308G>A c.*731G>A (n.*731G>A) | |
| 12 | g.49185092A= | CA2035021817 | TUBA1A | c.1274T= (p.Met425=) c.1169T= (p.Met390=) n.2307T= c.*730T= (n.*730T=) | |
| 12 | g.49185092A>C | CA384633739 | TUBA1A | c.1274T>G (p.Met425Arg) c.1169T>G (p.Met390Arg) n.2307T>G c.*730T>G (n.*730T>G) | |
| 12 | g.49185092A>G | CA384633741 | TUBA1A | c.1274T>C (p.Met425Thr) c.1169T>C (p.Met390Thr) n.2307T>C c.*730T>C (n.*730T>C) | COSMIC |
| 12 | g.49185092A>T | CA213260 | TUBA1A | c.1274T>A (p.Met425Lys) c.1169T>A (p.Met390Lys) n.2307T>A c.*730T>A (n.*730T>A) | ClinVar dbSNP |
| 12 | g.49185093T>A | CA384633781 | TUBA1A | c.1273A>T (p.Met425Leu) c.1168A>T (p.Met390Leu) n.2306A>T c.*729A>T (n.*729A>T) | |
| 12 | g.49185093T>C | CA384633765 | TUBA1A | c.1273A>G (p.Met425Val) c.1168A>G (p.Met390Val) n.2306A>G c.*729A>G (n.*729A>G) | |
| 12 | g.49185093T>G | CA384633777 | TUBA1A | c.1273A>C (p.Met425Leu) c.1168A>C (p.Met390Leu) n.2306A>C c.*729A>C (n.*729A>C) | |
| 12 | g.49185094G>A | CA479717041 | TUBA1A | c.1272C>T (p.Asp424=) c.1167C>T (p.Asp389=) n.2305C>T c.*728C>T (n.*728C>T) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.49185094G>C | CA384633784 | TUBA1A | c.1272C>G (p.Asp424Glu) c.1167C>G (p.Asp389Glu) n.2305C>G c.*728C>G (n.*728C>G) | |
| 12 | g.49185094G= | CA2035021822 | TUBA1A | c.1272C= (p.Asp424=) c.1167C= (p.Asp389=) n.2305C= c.*728C= (n.*728C=) | |
| 12 | g.49185094G>T | CA384633786 | TUBA1A | c.1272C>A (p.Asp424Glu) c.1167C>A (p.Asp389Glu) n.2305C>A c.*728C>A (n.*728C>A) | |
| 12 | g.49185095T>A | CA384633789 | TUBA1A | c.1271A>T (p.Asp424Val) c.1166A>T (p.Asp389Val) n.2304A>T c.*727A>T (n.*727A>T) | |
| 12 | g.49185095T>C | CA384633795 | TUBA1A | c.1271A>G (p.Asp424Gly) c.1166A>G (p.Asp389Gly) n.2304A>G c.*727A>G (n.*727A>G) | |
| 12 | g.49185095T>G | CA384633802 | TUBA1A | c.1271A>C (p.Asp424Ala) c.1166A>C (p.Asp389Ala) n.2304A>C c.*727A>C (n.*727A>C) | |
| 12 | g.49185096C>A | CA384633807 | TUBA1A | c.1270G>T (p.Asp424Tyr) c.1165G>T (p.Asp389Tyr) n.2303G>T c.*726G>T (n.*726G>T) | |
| 12 | g.49185096C>G | CA384633810 | TUBA1A | c.1270G>C (p.Asp424His) c.1165G>C (p.Asp389His) n.2303G>C c.*726G>C (n.*726G>C) | |
| 12 | g.49185096C>T | CA384633816 | TUBA1A | c.1270G>A (p.Asp424Asn) c.1165G>A (p.Asp389Asn) n.2303G>A c.*726G>A (n.*726G>A) | |
| 12 | g.49185097C>A | CA384633822 | TUBA1A | c.1269G>T (p.Glu423Asp) c.1164G>T (p.Glu388Asp) n.2302G>T c.*725G>T (n.*725G>T) | |
| 12 | g.49185097C= | CA2035021827 | TUBA1A | c.1269G= (p.Glu423=) c.1164G= (p.Glu388=) n.2302G= c.*725G= (n.*725G=) | |
| 12 | g.49185097C>G | CA384633824 | TUBA1A | c.1269G>C (p.Glu423Asp) c.1164G>C (p.Glu388Asp) n.2302G>C c.*725G>C (n.*725G>C) | |
| 12 | g.49185097C>T | CA479717044 | TUBA1A | c.1269G>A (p.Glu423=) c.1164G>A (p.Glu388=) n.2302G>A c.*725G>A (n.*725G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.49185097_49185098insACCCAACCCCCAAACACACCCAAC | CA2795904101 | TUBA1A | c.1269_1270insTTGGGTGTGTTTGGGGGTTGGGTG (p.Glu423_Asp424insLeuGlyValPheGlyGlyTrpVal) c.1164_1165insTTGGGTGTGTTTGGGGGTTGGGTG (p.Glu388_Asp389insLeuGlyValPheGlyGlyTrpVal) n.2302_2303insTTGGGTGTGTTTGGGGGTTGGGTG c.*725_*726insTTGGGTGTGTTTGGGGGTTGGGTG (n.*725_*726insTTGGGTGTGTTTGGGGGTTGGGTG) | |
| 12 | g.49185098T>A | CA384633840 | TUBA1A | c.1268A>T (p.Glu423Val) c.1163A>T (p.Glu388Val) n.2301A>T c.*724A>T (n.*724A>T) | |
| 12 | g.49185098T>C | CA384633835 | TUBA1A | c.1268A>G (p.Glu423Gly) c.1163A>G (p.Glu388Gly) n.2301A>G c.*724A>G (n.*724A>G) | ClinVar |
| 12 | g.49185098T>G | CA384633830 | TUBA1A | c.1268A>C (p.Glu423Ala) c.1163A>C (p.Glu388Ala) n.2301A>C c.*724A>C (n.*724A>C) | |
| 12 | g.49185099C>A | CA384633847 | TUBA1A | c.1267G>T (p.Glu423Ter) c.1162G>T (p.Glu388Ter) n.2300G>T c.*723G>T (n.*723G>T) | dbSNP |
| 12 | g.49185099C= | CA2035021829 | TUBA1A | c.1267G= (p.Glu423=) c.1162G= (p.Glu388=) n.2300G= c.*723G= (n.*723G=) | |
| 12 | g.49185099C>G | CA384633850 | TUBA1A | c.1267G>C (p.Glu423Gln) c.1162G>C (p.Glu388Gln) n.2300G>C c.*723G>C (n.*723G>C) | |
| 12 | g.49185099C>T | CA384633854 | TUBA1A | c.1267G>A (p.Glu423Lys) c.1162G>A (p.Glu388Lys) n.2300G>A c.*723G>A (n.*723G>A) | |
| 12 | g.49185100A= | CA2035021833 | TUBA1A | c.1266T= (p.Arg422=) c.1161T= (p.Arg387=) n.2299T= c.*722T= (n.*722T=) | |
| 12 | g.49185100A>C | CA6550204 | TUBA1A | c.1266T>G (p.Arg422=) c.1161T>G (p.Arg387=) n.2299T>G c.*722T>G (n.*722T>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185100A>G | CA479717046 | TUBA1A | c.1266T>C (p.Arg422=) c.1161T>C (p.Arg387=) n.2299T>C c.*722T>C (n.*722T>C) | |
| 12 | g.49185100A>T | CA479717047 | TUBA1A | c.1266T>A (p.Arg422=) c.1161T>A (p.Arg387=) n.2299T>A c.*722T>A (n.*722T>A) | gnomAD v4 |
| 12 | g.49185101C>A | CA384633875 | TUBA1A | c.1265G>T (p.Arg422Leu) c.1160G>T (p.Arg387Leu) n.2298G>T c.*721G>T (n.*721G>T) | |
| 12 | g.49185101C= | CA2035021840 | TUBA1A | c.1265G= (p.Arg422=) c.1160G= (p.Arg387=) n.2298G= c.*721G= (n.*721G=) | |
| 12 | g.49185101C>G | CA384633876 | TUBA1A | c.1265G>C (p.Arg422Pro) c.1160G>C (p.Arg387Pro) n.2298G>C c.*721G>C (n.*721G>C) | |
| 12 | g.49185101C>T | CA213166 | TUBA1A | c.1265G>A (p.Arg422His) c.1160G>A (p.Arg387His) n.2298G>A c.*721G>A (n.*721G>A) | ClinVar dbSNP |
| 12 | g.49185102G>A | CA213164 | TUBA1A | c.1264C>T (p.Arg422Cys) c.1159C>T (p.Arg387Cys) n.2297C>T c.*720C>T (n.*720C>T) | ClinVar dbSNP COSMIC |
| 12 | g.49185102G>C | CA384633878 | TUBA1A | c.1264C>G (p.Arg422Gly) c.1159C>G (p.Arg387Gly) n.2297C>G c.*720C>G (n.*720C>G) | COSMIC |
| 12 | g.49185102G= | CA2035021846 | TUBA1A | c.1264C= (p.Arg422=) c.1159C= (p.Arg387=) n.2297C= c.*720C= (n.*720C=) | |
| 12 | g.49185102G>T | CA384633879 | TUBA1A | c.1264C>A (p.Arg422Ser) c.1159C>A (p.Arg387Ser) n.2297C>A c.*720C>A (n.*720C>A) | ClinVar dbSNP |
| 12 | g.49185103G>A | CA479717048 | TUBA1A | c.1263C>T (p.Ala421=) c.1158C>T (p.Ala386=) n.2296C>T c.*719C>T (n.*719C>T) | ClinVar dbSNP gnomAD v4 |
| 12 | g.49185103G>C | CA236622277 | TUBA1A | c.1263C>G (p.Ala421=) c.1158C>G (p.Ala386=) n.2296C>G c.*719C>G (n.*719C>G) | dbSNP |
| 12 | g.49185103G= | CA2035021851 | TUBA1A | c.1263C= (p.Ala421=) c.1158C= (p.Ala386=) n.2296C= c.*719C= (n.*719C=) | |
| 12 | g.49185103G>T | CA479717049 | TUBA1A | c.1263C>A (p.Ala421=) c.1158C>A (p.Ala386=) n.2296C>A c.*719C>A (n.*719C>A) | |
| 12 | g.49185104G>A | CA384633909 | TUBA1A | c.1262C>T (p.Ala421Val) c.1157C>T (p.Ala386Val) n.2295C>T c.*718C>T (n.*718C>T) | |
| 12 | g.49185104G>C | CA384633906 | TUBA1A | c.1262C>G (p.Ala421Gly) c.1157C>G (p.Ala386Gly) n.2295C>G c.*718C>G (n.*718C>G) | |
| 12 | g.49185104G>T | CA384633896 | TUBA1A | c.1262C>A (p.Ala421Asp) c.1157C>A (p.Ala386Asp) n.2295C>A c.*718C>A (n.*718C>A) | |
| 12 | g.49185105C>A | CA384633914 | TUBA1A | c.1261G>T (p.Ala421Ser) c.1156G>T (p.Ala386Ser) n.2294G>T c.*717G>T (n.*717G>T) | |
| 12 | g.49185105C= | CA2035021858 | TUBA1A | c.1261G= (p.Ala421=) c.1156G= (p.Ala386=) n.2294G= c.*717G= (n.*717G=) | |
| 12 | g.49185105C>G | CA384633916 | TUBA1A | c.1261G>C (p.Ala421Pro) c.1156G>C (p.Ala386Pro) n.2294G>C c.*717G>C (n.*717G>C) | |
| 12 | g.49185105C>T | CA384633919 | TUBA1A | c.1261G>A (p.Ala421Thr) c.1156G>A (p.Ala386Thr) n.2294G>A c.*717G>A (n.*717G>A) | ClinVar dbSNP |
| 12 | g.49185106C>A | CA384633927 | TUBA1A | c.1260G>T (p.Glu420Asp) c.1155G>T (p.Glu385Asp) n.2293G>T c.*716G>T (n.*716G>T) | |
| 12 | g.49185106C>G | CA384633931 | TUBA1A | c.1260G>C (p.Glu420Asp) c.1155G>C (p.Glu385Asp) n.2293G>C c.*716G>C (n.*716G>C) | |
| 12 | g.49185106C>T | CA479717051 | TUBA1A | c.1260G>A (p.Glu420=) c.1155G>A (p.Glu385=) n.2293G>A c.*716G>A (n.*716G>A) | |
| 12 | g.49185107T>A | CA384633932 | TUBA1A | c.1259A>T (p.Glu420Val) c.1154A>T (p.Glu385Val) n.2292A>T c.*715A>T (n.*715A>T) | |
| 12 | g.49185107T>C | CA384633933 | TUBA1A | c.1259A>G (p.Glu420Gly) c.1154A>G (p.Glu385Gly) n.2292A>G c.*715A>G (n.*715A>G) | |
| 12 | g.49185107T>G | CA384633934 | TUBA1A | c.1259A>C (p.Glu420Ala) c.1154A>C (p.Glu385Ala) n.2292A>C c.*715A>C (n.*715A>C) | |
| 12 | g.49185108C>A | CA384633936 | TUBA1A | c.1258G>T (p.Glu420Ter) c.1153G>T (p.Glu385Ter) n.2291G>T c.*714G>T (n.*714G>T) | dbSNP |
| 12 | g.49185108C= | CA2035021864 | TUBA1A | c.1258G= (p.Glu420=) c.1153G= (p.Glu385=) n.2291G= c.*714G= (n.*714G=) | |
| 12 | g.49185108C>G | CA384633938 | TUBA1A | c.1258G>C (p.Glu420Gln) c.1153G>C (p.Glu385Gln) n.2291G>C c.*714G>C (n.*714G>C) | |
| 12 | g.49185108C>T | CA236622278 | TUBA1A | c.1258G>A (p.Glu420Lys) c.1153G>A (p.Glu385Lys) n.2291G>A c.*714G>A (n.*714G>A) | dbSNP |
| 12 | g.49185109T>A | CA479717056 | TUBA1A | c.1257A>T (p.Ser419=) c.1152A>T (p.Ser384=) n.2290A>T c.*713A>T (n.*713A>T) | dbSNP |
| 12 | g.49185109T>C | CA16607304 | TUBA1A | c.1257A>G (p.Ser419=) c.1152A>G (p.Ser384=) n.2290A>G c.*713A>G (n.*713A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.49185109T>G | CA479717055 | TUBA1A | c.1257A>C (p.Ser419=) c.1152A>C (p.Ser384=) n.2290A>C c.*713A>C (n.*713A>C) | gnomAD v4 |
| 12 | g.49185109T= | CA2035021871 | TUBA1A | c.1257A= (p.Ser419=) c.1152A= (p.Ser384=) n.2290A= c.*713A= (n.*713A=) | |
| 12 | g.49185110G>A | CA213160 | TUBA1A | c.1256C>T (p.Ser419Leu) c.1151C>T (p.Ser384Leu) n.2289C>T c.*712C>T (n.*712C>T) | ClinVar dbSNP |
| 12 | g.49185110G>C | CA384633980 | TUBA1A | c.1256C>G (p.Ser419Ter) c.1151C>G (p.Ser384Ter) n.2289C>G c.*712C>G (n.*712C>G) | |
| 12 | g.49185110G= | CA2035021874 | TUBA1A | c.1256C= (p.Ser419=) c.1151C= (p.Ser384=) n.2289C= c.*712C= (n.*712C=) | |
| 12 | g.49185110G>T | CA384633961 | TUBA1A | c.1256C>A (p.Ser419Ter) c.1151C>A (p.Ser384Ter) n.2289C>A c.*712C>A (n.*712C>A) | |
| 12 | g.49185111A>C | CA384633994 | TUBA1A | c.1255T>G (p.Ser419Ala) c.1150T>G (p.Ser384Ala) n.2288T>G c.*711T>G (n.*711T>G) | |
| 12 | g.49185111A>G | CA384633996 | TUBA1A | c.1255T>C (p.Ser419Pro) c.1150T>C (p.Ser384Pro) n.2288T>C c.*711T>C (n.*711T>C) | |
| 12 | g.49185111A>T | CA384633995 | TUBA1A | c.1255T>A (p.Ser419Thr) c.1150T>A (p.Ser384Thr) n.2288T>A c.*711T>A (n.*711T>A) | |
| 12 | g.49185112A= | CA2035021877 | TUBA1A | c.1254T= (p.Phe418=) c.1149T= (p.Phe383=) n.2287T= c.*710T= (n.*710T=) | |
| 12 | g.49185112A>C | CA384633997 | TUBA1A | c.1254T>G (p.Phe418Leu) c.1149T>G (p.Phe383Leu) n.2287T>G c.*710T>G (n.*710T>G) | |
| 12 | g.49185112A>G | CA236622287 | TUBA1A | c.1254T>C (p.Phe418=) c.1149T>C (p.Phe383=) n.2287T>C c.*710T>C (n.*710T>C) | dbSNP |
| 12 | g.49185112A>T | CA384634000 | TUBA1A | c.1254T>A (p.Phe418Leu) c.1149T>A (p.Phe383Leu) n.2287T>A c.*710T>A (n.*710T>A) | |
| 12 | g.49185113A>C | CA384634006 | TUBA1A | c.1253T>G (p.Phe418Cys) c.1148T>G (p.Phe383Cys) n.2286T>G c.*709T>G (n.*709T>G) | |
| 12 | g.49185113A>G | CA384634011 | TUBA1A | c.1253T>C (p.Phe418Ser) c.1148T>C (p.Phe383Ser) n.2286T>C c.*709T>C (n.*709T>C) | |
| 12 | g.49185113A>T | CA384634015 | TUBA1A | c.1253T>A (p.Phe418Tyr) c.1148T>A (p.Phe383Tyr) n.2286T>A c.*709T>A (n.*709T>A) | |
| 12 | g.49185114A>C | CA384634038 | TUBA1A | c.1252T>G (p.Phe418Val) c.1147T>G (p.Phe383Val) n.2285T>G c.*708T>G (n.*708T>G) | |
| 12 | g.49185114A>G | CA384634052 | TUBA1A | c.1252T>C (p.Phe418Leu) c.1147T>C (p.Phe383Leu) n.2285T>C c.*708T>C (n.*708T>C) | |
| 12 | g.49185114A>T | CA384634061 | TUBA1A | c.1252T>A (p.Phe418Ile) c.1147T>A (p.Phe383Ile) n.2285T>A c.*708T>A (n.*708T>A) | |
| 12 | g.49185115C>A | CA384634073 | TUBA1A | c.1251G>T (p.Glu417Asp) c.1146G>T (p.Glu382Asp) n.2284G>T c.*707G>T (n.*707G>T) | |
| 12 | g.49185115C>G | CA384634075 | TUBA1A | c.1251G>C (p.Glu417Asp) c.1146G>C (p.Glu382Asp) n.2284G>C c.*707G>C (n.*707G>C) | |
| 12 | g.49185115C>T | CA479717058 | TUBA1A | c.1251G>A (p.Glu417=) c.1146G>A (p.Glu382=) n.2284G>A c.*707G>A (n.*707G>A) | |
| 12 | g.49185116T>A | CA384634095 | TUBA1A | c.1250A>T (p.Glu417Val) c.1145A>T (p.Glu382Val) n.2283A>T c.*706A>T (n.*706A>T) | |
| 12 | g.49185116T>C | CA384634094 | TUBA1A | c.1250A>G (p.Glu417Gly) c.1145A>G (p.Glu382Gly) n.2283A>G c.*706A>G (n.*706A>G) | |
| 12 | g.49185116T>G | CA384634081 | TUBA1A | c.1250A>C (p.Glu417Ala) c.1145A>C (p.Glu382Ala) n.2283A>C c.*706A>C (n.*706A>C) | |
| 12 | g.49185117C>A | CA384634096 | TUBA1A | c.1249G>T (p.Glu417Ter) c.1144G>T (p.Glu382Ter) n.2282G>T c.*705G>T (n.*705G>T) | dbSNP |
| 12 | g.49185117C= | CA2035021880 | TUBA1A | c.1249G= (p.Glu417=) c.1144G= (p.Glu382=) n.2282G= c.*705G= (n.*705G=) | |
| 12 | g.49185117C>G | CA384634100 | TUBA1A | c.1249G>C (p.Glu417Gln) c.1144G>C (p.Glu382Gln) n.2282G>C c.*705G>C (n.*705G>C) | |
| 12 | g.49185117C>T | CA384634103 | TUBA1A | c.1249G>A (p.Glu417Lys) c.1144G>A (p.Glu382Lys) n.2282G>A c.*705G>A (n.*705G>A) | |
| 12 | g.49185118A= | CA2035021884 | TUBA1A | c.1248T= (p.Gly416=) c.1143T= (p.Gly381=) n.2281T= c.*704T= (n.*704T=) | |
| 12 | g.49185118A>C | CA479717060 | TUBA1A | c.1248T>G (p.Gly416=) c.1143T>G (p.Gly381=) n.2281T>G c.*704T>G (n.*704T>G) | |
| 12 | g.49185118A>G | CA205452 | TUBA1A | c.1248T>C (p.Gly416=) c.1143T>C (p.Gly381=) n.2281T>C c.*704T>C (n.*704T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.49185118A>T | CA479717061 | TUBA1A | c.1248T>A (p.Gly416=) c.1143T>A (p.Gly381=) n.2281T>A c.*704T>A (n.*704T>A) |