Chr Mutation (hg38) CAid Gene Transcript Linkouts
5g.151822813_151822816delinsTCTCCA1591565241GLRA1c.1207_1210delinsGAGA (p.Glu403=)
c.1231_1234delinsGAGA (p.Glu411=)
c.*965_*968delinsGAGA (n.*965_*968delinsGAGA)
c.958_961delinsGAGA (p.Glu320=)
5g.151822817_151822819delCA3523482GLRA1c.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
5g.151822815T>ACA361849920GLRA1c.1208A>T (p.Glu403Val)
c.1232A>T (p.Glu411Val)
c.*966A>T (n.*966A>T)
c.959A>T (p.Glu320Val)
5g.151822815T>CCA361849921GLRA1c.1208A>G (p.Glu403Gly)
c.1232A>G (p.Glu411Gly)
c.*966A>G (n.*966A>G)
c.959A>G (p.Glu320Gly)
gnomAD v4
5g.151822815T>GCA361849922GLRA1c.1208A>C (p.Glu403Ala)
c.1232A>C (p.Glu411Ala)
c.*966A>C (n.*966A>C)
c.959A>C (p.Glu320Ala)
5g.151822816C>ACA361849923GLRA1c.1207G>T (p.Glu403Ter)
c.1231G>T (p.Glu411Ter)
c.*965G>T (n.*965G>T)
c.958G>T (p.Glu320Ter)
gnomAD v4
5g.151822816C=CA1591565242GLRA1c.1207G= (p.Glu403=)
c.1231G= (p.Glu411=)
c.*965G= (n.*965G=)
c.958G= (p.Glu320=)
5g.151822816C>GCA361849924GLRA1c.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
5g.151822816C>TCA361849925GLRA1c.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
5g.151822817C>ACA361849926GLRA1c.1206G>T (p.Glu402Asp)
c.1230G>T (p.Glu410Asp)
c.*964G>T (n.*964G>T)
c.957G>T (p.Glu319Asp)
5g.151822817C=CA1591565243GLRA1c.1206G= (p.Glu402=)
c.1230G= (p.Glu410=)
c.*964G= (n.*964G=)
c.957G= (p.Glu319=)
5g.151822817C>GCA361849927GLRA1c.1206G>C (p.Glu402Asp)
c.1230G>C (p.Glu410Asp)
c.*964G>C (n.*964G>C)
c.957G>C (p.Glu319Asp)
dbSNP
5g.151822817C>TCA447226584GLRA1c.1206G>A (p.Glu402=)
c.1230G>A (p.Glu410=)
c.*964G>A (n.*964G>A)
c.957G>A (p.Glu319=)
gnomAD v4
5g.151822818T>ACA361849928GLRA1c.1205A>T (p.Glu402Val)
c.1229A>T (p.Glu410Val)
c.*963A>T (n.*963A>T)
c.956A>T (p.Glu319Val)
5g.151822818T>CCA361849929GLRA1c.1205A>G (p.Glu402Gly)
c.1229A>G (p.Glu410Gly)
c.*963A>G (n.*963A>G)
c.956A>G (p.Glu319Gly)
gnomAD v4
5g.151822818T>GCA361849930GLRA1c.1205A>C (p.Glu402Ala)
c.1229A>C (p.Glu410Ala)
c.*963A>C (n.*963A>C)
c.956A>C (p.Glu319Ala)
5g.151822819C>ACA361849933GLRA1c.1204G>T (p.Glu402Ter)
c.1228G>T (p.Glu410Ter)
c.*962G>T (n.*962G>T)
c.955G>T (p.Glu319Ter)
5g.151822819C=CA1591565244GLRA1c.1204G= (p.Glu402=)
c.1228G= (p.Glu410=)
c.*962G= (n.*962G=)
c.955G= (p.Glu319=)
5g.151822819C>GCA361849935GLRA1c.1204G>C (p.Glu402Gln)
c.1228G>C (p.Glu410Gln)
c.*962G>C (n.*962G>C)
c.955G>C (p.Glu319Gln)
dbSNP
5g.151822819C>TCA361849937GLRA1c.1204G>A (p.Glu402Lys)
c.1228G>A (p.Glu410Lys)
c.*962G>A (n.*962G>A)
c.955G>A (p.Glu319Lys)
ClinVar dbSNP
5g.151822820T>ACA447226587GLRA1c.1203A>T (p.Pro401=)
c.1227A>T (p.Pro409=)
c.*961A>T (n.*961A>T)
c.954A>T (p.Pro318=)
5g.151822820T>CCA447226586GLRA1c.1203A>G (p.Pro401=)
c.1227A>G (p.Pro409=)
c.*961A>G (n.*961A>G)
c.954A>G (p.Pro318=)
5g.151822820T>GCA447226585GLRA1c.1203A>C (p.Pro401=)
c.1227A>C (p.Pro409=)
c.*961A>C (n.*961A>C)
c.954A>C (p.Pro318=)
5g.151822821G>ACA361849945GLRA1c.1202C>T (p.Pro401Leu)
c.1226C>T (p.Pro409Leu)
c.*960C>T (n.*960C>T)
c.953C>T (p.Pro318Leu)
5g.151822821G>CCA361849943GLRA1c.1202C>G (p.Pro401Arg)
c.1226C>G (p.Pro409Arg)
c.*960C>G (n.*960C>G)
c.953C>G (p.Pro318Arg)
5g.151822821G>TCA361849944GLRA1c.1202C>A (p.Pro401Gln)
c.1226C>A (p.Pro409Gln)
c.*960C>A (n.*960C>A)
c.953C>A (p.Pro318Gln)
5g.151822822G>ACA361849946GLRA1c.1201C>T (p.Pro401Ser)
c.1225C>T (p.Pro409Ser)
c.*959C>T (n.*959C>T)
c.952C>T (p.Pro318Ser)
5g.151822822G>CCA361849947GLRA1c.1201C>G (p.Pro401Ala)
c.1225C>G (p.Pro409Ala)
c.*959C>G (n.*959C>G)
c.952C>G (p.Pro318Ala)
5g.151822822G>TCA361849948GLRA1c.1201C>A (p.Pro401Thr)
c.1225C>A (p.Pro409Thr)
c.*959C>A (n.*959C>A)
c.952C>A (p.Pro318Thr)
5g.151822823G>ACA447226588GLRA1c.1200C>T (p.Ser400=)
c.1224C>T (p.Ser408=)
c.*958C>T (n.*958C>T)
c.951C>T (p.Ser317=)
dbSNP
5g.151822823G>CCA447226589GLRA1c.1200C>G (p.Ser400=)
c.1224C>G (p.Ser408=)
c.*958C>G (n.*958C>G)
c.951C>G (p.Ser317=)
5g.151822823G=CA1591565245GLRA1c.1200C= (p.Ser400=)
c.1224C= (p.Ser408=)
c.*958C= (n.*958C=)
c.951C= (p.Ser317=)
5g.151822823G>TCA447226590GLRA1c.1200C>A (p.Ser400=)
c.1224C>A (p.Ser408=)
c.*958C>A (n.*958C>A)
c.951C>A (p.Ser317=)
5g.151822824G>ACA3523484GLRA1c.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
5g.151822824G>CCA361849950GLRA1c.1199C>G (p.Ser400Cys)
c.1223C>G (p.Ser408Cys)
c.*957C>G (n.*957C>G)
c.950C>G (p.Ser317Cys)
5g.151822824G=CA1591565246GLRA1c.1199C= (p.Ser400=)
c.1223C= (p.Ser408=)
c.*957C= (n.*957C=)
c.950C= (p.Ser317=)
5g.151822824G>TCA361849954GLRA1c.1199C>A (p.Ser400Tyr)
c.1223C>A (p.Ser408Tyr)
c.*957C>A (n.*957C>A)
c.950C>A (p.Ser317Tyr)
5g.151822825A=CA1591565247GLRA1c.1198T= (p.Ser400=)
c.1222T= (p.Ser408=)
c.*956T= (n.*956T=)
c.949T= (p.Ser317=)
5g.151822825A>CCA361849957GLRA1c.1198T>G (p.Ser400Ala)
c.1222T>G (p.Ser408Ala)
c.*956T>G (n.*956T>G)
c.949T>G (p.Ser317Ala)
5g.151822825A>GCA3523485GLRA1c.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
5g.151822825A>TCA361849960GLRA1c.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
5g.151822826C>ACA361849963GLRA1c.1197G>T (p.Lys399Asn)
c.1221G>T (p.Lys407Asn)
c.*955G>T (n.*955G>T)
c.948G>T (p.Lys316Asn)
5g.151822826C>GCA361849965GLRA1c.1197G>C (p.Lys399Asn)
c.1221G>C (p.Lys407Asn)
c.*955G>C (n.*955G>C)
c.948G>C (p.Lys316Asn)
5g.151822826C>TCA447226591GLRA1c.1197G>A (p.Lys399=)
c.1221G>A (p.Lys407=)
c.*955G>A (n.*955G>A)
c.948G>A (p.Lys316=)
gnomAD v4
5g.151822827T>ACA361849969GLRA1c.1196A>T (p.Lys399Met)
c.1220A>T (p.Lys407Met)
c.*954A>T (n.*954A>T)
c.947A>T (p.Lys316Met)
5g.151822827T>CCA361849970GLRA1c.1196A>G (p.Lys399Arg)
c.1220A>G (p.Lys407Arg)
c.*954A>G (n.*954A>G)
c.947A>G (p.Lys316Arg)
5g.151822827T>GCA361849967GLRA1c.1196A>C (p.Lys399Thr)
c.1220A>C (p.Lys407Thr)
c.*954A>C (n.*954A>C)
c.947A>C (p.Lys316Thr)
5g.151822828T>ACA361849973GLRA1c.1195A>T (p.Lys399Ter)
c.1219A>T (p.Lys407Ter)
c.*953A>T (n.*953A>T)
c.946A>T (p.Lys316Ter)
5g.151822828T>CCA361849971GLRA1c.1195A>G (p.Lys399Glu)
c.1219A>G (p.Lys407Glu)
c.*953A>G (n.*953A>G)
c.946A>G (p.Lys316Glu)
5g.151822828T>GCA361849972GLRA1c.1195A>C (p.Lys399Gln)
c.1219A>C (p.Lys407Gln)
c.*953A>C (n.*953A>C)
c.946A>C (p.Lys316Gln)

Number of alleles fetched