Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
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) | |
5 | g.151822829A= | CA1591565248 | GLRA1 | c.1194T= (p.Ser398=) c.1218T= (p.Ser406=) c.*952T= (n.*952T=) c.945T= (p.Ser315=) | |
5 | g.151822829A>C | CA447226592 | GLRA1 | c.1194T>G (p.Ser398=) c.1218T>G (p.Ser406=) c.*952T>G (n.*952T>G) c.945T>G (p.Ser315=) | |
5 | g.151822829A>G | CA3523486 | GLRA1 | c.1194T>C (p.Ser398=) c.1218T>C (p.Ser406=) c.*952T>C (n.*952T>C) c.945T>C (p.Ser315=) | dbSNP ExAC gnomAD v4 |
5 | g.151822829A>T | CA447226593 | GLRA1 | c.1194T>A (p.Ser398=) c.1218T>A (p.Ser406=) c.*952T>A (n.*952T>A) c.945T>A (p.Ser315=) | |
5 | g.151822830G>A | CA361849976 | GLRA1 | c.1193C>T (p.Ser398Phe) c.1217C>T (p.Ser406Phe) c.*951C>T (n.*951C>T) c.944C>T (p.Ser315Phe) | COSMIC |
5 | g.151822830G>C | CA130006274 | GLRA1 | c.1193C>G (p.Ser398Cys) c.1217C>G (p.Ser406Cys) c.*951C>G (n.*951C>G) c.944C>G (p.Ser315Cys) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822830G= | CA1591565249 | GLRA1 | c.1193C= (p.Ser398=) c.1217C= (p.Ser406=) c.*951C= (n.*951C=) c.944C= (p.Ser315=) | |
5 | g.151822830G>T | CA361849981 | GLRA1 | c.1193C>A (p.Ser398Tyr) c.1217C>A (p.Ser406Tyr) c.*951C>A (n.*951C>A) c.944C>A (p.Ser315Tyr) | |
5 | g.151822831A= | CA1591565250 | GLRA1 | c.1192T= (p.Ser398=) c.1216T= (p.Ser406=) c.*950T= (n.*950T=) c.943T= (p.Ser315=) | |
5 | g.151822831A>C | CA361849984 | GLRA1 | c.1192T>G (p.Ser398Ala) c.1216T>G (p.Ser406Ala) c.*950T>G (n.*950T>G) c.943T>G (p.Ser315Ala) | |
5 | g.151822831A>G | CA361849986 | GLRA1 | c.1192T>C (p.Ser398Pro) c.1216T>C (p.Ser406Pro) c.*950T>C (n.*950T>C) c.943T>C (p.Ser315Pro) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822831A>T | CA361849988 | GLRA1 | c.1192T>A (p.Ser398Thr) c.1216T>A (p.Ser406Thr) c.*950T>A (n.*950T>A) c.943T>A (p.Ser315Thr) | |
5 | g.151822832T>A | CA447226594 | GLRA1 | c.1191A>T (p.Pro397=) c.1215A>T (p.Pro405=) c.*949A>T (n.*949A>T) c.942A>T (p.Pro314=) | |
5 | g.151822832T>C | CA447226595 | GLRA1 | c.1191A>G (p.Pro397=) c.1215A>G (p.Pro405=) c.*949A>G (n.*949A>G) c.942A>G (p.Pro314=) | |
5 | g.151822832T>G | CA447226596 | GLRA1 | c.1191A>C (p.Pro397=) c.1215A>C (p.Pro405=) c.*949A>C (n.*949A>C) c.942A>C (p.Pro314=) |