Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151822813_151822816delinsTCTC | CA1591565241 | GLRA1 | c.1207_1210delinsGAGA (p.Glu403=) c.1231_1234delinsGAGA (p.Glu411=) c.*965_*968delinsGAGA (n.*965_*968delinsGAGA) c.958_961delinsGAGA (p.Glu320=) | |
5 | g.151822817_151822819del | CA3523482 | GLRA1 | c.1207_1209del (p.Glu403del) c.1231_1233del (p.Glu411del) c.*965_*967del (n.*965_*967del) c.958_960del (p.Glu320del) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151822815T>A | CA361849920 | GLRA1 | c.1208A>T (p.Glu403Val) c.1232A>T (p.Glu411Val) c.*966A>T (n.*966A>T) c.959A>T (p.Glu320Val) | |
5 | g.151822815T>C | CA361849921 | GLRA1 | c.1208A>G (p.Glu403Gly) c.1232A>G (p.Glu411Gly) c.*966A>G (n.*966A>G) c.959A>G (p.Glu320Gly) | gnomAD v4 |
5 | g.151822815T>G | CA361849922 | GLRA1 | c.1208A>C (p.Glu403Ala) c.1232A>C (p.Glu411Ala) c.*966A>C (n.*966A>C) c.959A>C (p.Glu320Ala) | |
5 | g.151822816C>A | CA361849923 | GLRA1 | c.1207G>T (p.Glu403Ter) c.1231G>T (p.Glu411Ter) c.*965G>T (n.*965G>T) c.958G>T (p.Glu320Ter) | gnomAD v4 |
5 | g.151822816C= | CA1591565242 | GLRA1 | c.1207G= (p.Glu403=) c.1231G= (p.Glu411=) c.*965G= (n.*965G=) c.958G= (p.Glu320=) | |
5 | g.151822816C>G | CA361849924 | GLRA1 | c.1207G>C (p.Glu403Gln) c.1231G>C (p.Glu411Gln) c.*965G>C (n.*965G>C) c.958G>C (p.Glu320Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822816C>T | CA361849925 | GLRA1 | c.1207G>A (p.Glu403Lys) c.1231G>A (p.Glu411Lys) c.*965G>A (n.*965G>A) c.958G>A (p.Glu320Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
5 | g.151822817C>A | CA361849926 | GLRA1 | c.1206G>T (p.Glu402Asp) c.1230G>T (p.Glu410Asp) c.*964G>T (n.*964G>T) c.957G>T (p.Glu319Asp) | |
5 | g.151822817C= | CA1591565243 | GLRA1 | c.1206G= (p.Glu402=) c.1230G= (p.Glu410=) c.*964G= (n.*964G=) c.957G= (p.Glu319=) | |
5 | g.151822817C>G | CA361849927 | GLRA1 | c.1206G>C (p.Glu402Asp) c.1230G>C (p.Glu410Asp) c.*964G>C (n.*964G>C) c.957G>C (p.Glu319Asp) | dbSNP |
5 | g.151822817C>T | CA447226584 | GLRA1 | c.1206G>A (p.Glu402=) c.1230G>A (p.Glu410=) c.*964G>A (n.*964G>A) c.957G>A (p.Glu319=) | gnomAD v4 |
5 | g.151822818T>A | CA361849928 | GLRA1 | c.1205A>T (p.Glu402Val) c.1229A>T (p.Glu410Val) c.*963A>T (n.*963A>T) c.956A>T (p.Glu319Val) | |
5 | g.151822818T>C | CA361849929 | GLRA1 | c.1205A>G (p.Glu402Gly) c.1229A>G (p.Glu410Gly) c.*963A>G (n.*963A>G) c.956A>G (p.Glu319Gly) | gnomAD v4 |
5 | g.151822818T>G | CA361849930 | GLRA1 | c.1205A>C (p.Glu402Ala) c.1229A>C (p.Glu410Ala) c.*963A>C (n.*963A>C) c.956A>C (p.Glu319Ala) | |
5 | g.151822819C>A | CA361849933 | GLRA1 | c.1204G>T (p.Glu402Ter) c.1228G>T (p.Glu410Ter) c.*962G>T (n.*962G>T) c.955G>T (p.Glu319Ter) | |
5 | g.151822819C= | CA1591565244 | GLRA1 | c.1204G= (p.Glu402=) c.1228G= (p.Glu410=) c.*962G= (n.*962G=) c.955G= (p.Glu319=) | |
5 | g.151822819C>G | CA361849935 | GLRA1 | c.1204G>C (p.Glu402Gln) c.1228G>C (p.Glu410Gln) c.*962G>C (n.*962G>C) c.955G>C (p.Glu319Gln) | dbSNP |
5 | g.151822819C>T | CA361849937 | GLRA1 | c.1204G>A (p.Glu402Lys) c.1228G>A (p.Glu410Lys) c.*962G>A (n.*962G>A) c.955G>A (p.Glu319Lys) | ClinVar dbSNP |
5 | g.151822820T>A | CA447226587 | GLRA1 | c.1203A>T (p.Pro401=) c.1227A>T (p.Pro409=) c.*961A>T (n.*961A>T) c.954A>T (p.Pro318=) | |
5 | g.151822820T>C | CA447226586 | GLRA1 | c.1203A>G (p.Pro401=) c.1227A>G (p.Pro409=) c.*961A>G (n.*961A>G) c.954A>G (p.Pro318=) | |
5 | g.151822820T>G | CA447226585 | GLRA1 | c.1203A>C (p.Pro401=) c.1227A>C (p.Pro409=) c.*961A>C (n.*961A>C) c.954A>C (p.Pro318=) | |
5 | g.151822821G>A | CA361849945 | GLRA1 | c.1202C>T (p.Pro401Leu) c.1226C>T (p.Pro409Leu) c.*960C>T (n.*960C>T) c.953C>T (p.Pro318Leu) | |
5 | g.151822821G>C | CA361849943 | GLRA1 | c.1202C>G (p.Pro401Arg) c.1226C>G (p.Pro409Arg) c.*960C>G (n.*960C>G) c.953C>G (p.Pro318Arg) | |
5 | g.151822821G>T | CA361849944 | GLRA1 | c.1202C>A (p.Pro401Gln) c.1226C>A (p.Pro409Gln) c.*960C>A (n.*960C>A) c.953C>A (p.Pro318Gln) | |
5 | g.151822822G>A | CA361849946 | GLRA1 | c.1201C>T (p.Pro401Ser) c.1225C>T (p.Pro409Ser) c.*959C>T (n.*959C>T) c.952C>T (p.Pro318Ser) | |
5 | g.151822822G>C | CA361849947 | GLRA1 | c.1201C>G (p.Pro401Ala) c.1225C>G (p.Pro409Ala) c.*959C>G (n.*959C>G) c.952C>G (p.Pro318Ala) | |
5 | g.151822822G>T | CA361849948 | GLRA1 | c.1201C>A (p.Pro401Thr) c.1225C>A (p.Pro409Thr) c.*959C>A (n.*959C>A) c.952C>A (p.Pro318Thr) | |
5 | g.151822823G>A | CA447226588 | GLRA1 | c.1200C>T (p.Ser400=) c.1224C>T (p.Ser408=) c.*958C>T (n.*958C>T) c.951C>T (p.Ser317=) | dbSNP |
5 | g.151822823G>C | CA447226589 | GLRA1 | c.1200C>G (p.Ser400=) c.1224C>G (p.Ser408=) c.*958C>G (n.*958C>G) c.951C>G (p.Ser317=) | |
5 | g.151822823G= | CA1591565245 | GLRA1 | c.1200C= (p.Ser400=) c.1224C= (p.Ser408=) c.*958C= (n.*958C=) c.951C= (p.Ser317=) | |
5 | g.151822823G>T | CA447226590 | GLRA1 | c.1200C>A (p.Ser400=) c.1224C>A (p.Ser408=) c.*958C>A (n.*958C>A) c.951C>A (p.Ser317=) | |
5 | g.151822824G>A | CA3523484 | GLRA1 | c.1199C>T (p.Ser400Phe) c.1223C>T (p.Ser408Phe) c.*957C>T (n.*957C>T) c.950C>T (p.Ser317Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822824G>C | CA361849950 | GLRA1 | c.1199C>G (p.Ser400Cys) c.1223C>G (p.Ser408Cys) c.*957C>G (n.*957C>G) c.950C>G (p.Ser317Cys) | |
5 | g.151822824G= | CA1591565246 | GLRA1 | c.1199C= (p.Ser400=) c.1223C= (p.Ser408=) c.*957C= (n.*957C=) c.950C= (p.Ser317=) | |
5 | g.151822824G>T | CA361849954 | GLRA1 | c.1199C>A (p.Ser400Tyr) c.1223C>A (p.Ser408Tyr) c.*957C>A (n.*957C>A) c.950C>A (p.Ser317Tyr) | |
5 | g.151822825A= | CA1591565247 | GLRA1 | c.1198T= (p.Ser400=) c.1222T= (p.Ser408=) c.*956T= (n.*956T=) c.949T= (p.Ser317=) | |
5 | g.151822825A>C | CA361849957 | GLRA1 | c.1198T>G (p.Ser400Ala) c.1222T>G (p.Ser408Ala) c.*956T>G (n.*956T>G) c.949T>G (p.Ser317Ala) | |
5 | g.151822825A>G | CA3523485 | GLRA1 | c.1198T>C (p.Ser400Pro) c.1222T>C (p.Ser408Pro) c.*956T>C (n.*956T>C) c.949T>C (p.Ser317Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822825A>T | CA361849960 | GLRA1 | c.1198T>A (p.Ser400Thr) c.1222T>A (p.Ser408Thr) c.*956T>A (n.*956T>A) c.949T>A (p.Ser317Thr) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822826C>A | CA361849963 | GLRA1 | c.1197G>T (p.Lys399Asn) c.1221G>T (p.Lys407Asn) c.*955G>T (n.*955G>T) c.948G>T (p.Lys316Asn) | |
5 | g.151822826C>G | CA361849965 | GLRA1 | c.1197G>C (p.Lys399Asn) c.1221G>C (p.Lys407Asn) c.*955G>C (n.*955G>C) c.948G>C (p.Lys316Asn) | |
5 | g.151822826C>T | CA447226591 | GLRA1 | c.1197G>A (p.Lys399=) c.1221G>A (p.Lys407=) c.*955G>A (n.*955G>A) c.948G>A (p.Lys316=) | gnomAD v4 |
5 | g.151822827T>A | CA361849969 | GLRA1 | c.1196A>T (p.Lys399Met) c.1220A>T (p.Lys407Met) c.*954A>T (n.*954A>T) c.947A>T (p.Lys316Met) | |
5 | g.151822827T>C | CA361849970 | GLRA1 | c.1196A>G (p.Lys399Arg) c.1220A>G (p.Lys407Arg) c.*954A>G (n.*954A>G) c.947A>G (p.Lys316Arg) | |
5 | g.151822827T>G | CA361849967 | GLRA1 | c.1196A>C (p.Lys399Thr) c.1220A>C (p.Lys407Thr) c.*954A>C (n.*954A>C) c.947A>C (p.Lys316Thr) | |
5 | g.151822828T>A | CA361849973 | GLRA1 | c.1195A>T (p.Lys399Ter) c.1219A>T (p.Lys407Ter) c.*953A>T (n.*953A>T) c.946A>T (p.Lys316Ter) | |
5 | g.151822828T>C | CA361849971 | GLRA1 | c.1195A>G (p.Lys399Glu) c.1219A>G (p.Lys407Glu) c.*953A>G (n.*953A>G) c.946A>G (p.Lys316Glu) | |
5 | g.151822828T>G | CA361849972 | GLRA1 | c.1195A>C (p.Lys399Gln) c.1219A>C (p.Lys407Gln) c.*953A>C (n.*953A>C) c.946A>C (p.Lys316Gln) |