Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
5 | g.151822833G>A | CA361849991 | GLRA1 | c.1190C>T (p.Pro397Leu) c.1214C>T (p.Pro405Leu) c.*948C>T (n.*948C>T) c.941C>T (p.Pro314Leu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822833G>C | CA361849993 | GLRA1 | c.1190C>G (p.Pro397Arg) c.1214C>G (p.Pro405Arg) c.*948C>G (n.*948C>G) c.941C>G (p.Pro314Arg) | |
5 | g.151822833G= | CA1591565251 | GLRA1 | c.1190C= (p.Pro397=) c.1214C= (p.Pro405=) c.*948C= (n.*948C=) c.941C= (p.Pro314=) | |
5 | g.151822833G>T | CA361849994 | GLRA1 | c.1190C>A (p.Pro397Gln) c.1214C>A (p.Pro405Gln) c.*948C>A (n.*948C>A) c.941C>A (p.Pro314Gln) | |
5 | g.151822834G>A | CA361850000 | GLRA1 | c.1189C>T (p.Pro397Ser) c.1213C>T (p.Pro405Ser) c.*947C>T (n.*947C>T) c.940C>T (p.Pro314Ser) | |
5 | g.151822834G>C | CA361850002 | GLRA1 | c.1189C>G (p.Pro397Ala) c.1213C>G (p.Pro405Ala) c.*947C>G (n.*947C>G) c.940C>G (p.Pro314Ala) | |
5 | g.151822834G>T | CA361849998 | GLRA1 | c.1189C>A (p.Pro397Thr) c.1213C>A (p.Pro405Thr) c.*947C>A (n.*947C>A) c.940C>A (p.Pro314Thr) | |
5 | g.151822835T>A | CA447226597 | GLRA1 | c.1188A>T (p.Ala396=) c.1212A>T (p.Ala404=) c.*946A>T (n.*946A>T) c.939A>T (p.Ala313=) | |
5 | g.151822835T>C | CA447226598 | GLRA1 | c.1188A>G (p.Ala396=) c.1212A>G (p.Ala404=) c.*946A>G (n.*946A>G) c.939A>G (p.Ala313=) | |
5 | g.151822835T>G | CA447226599 | GLRA1 | c.1188A>C (p.Ala396=) c.1212A>C (p.Ala404=) c.*946A>C (n.*946A>C) c.939A>C (p.Ala313=) | |
5 | g.151822836G>A | CA361850006 | GLRA1 | c.1187C>T (p.Ala396Val) c.1211C>T (p.Ala404Val) c.*945C>T (n.*945C>T) c.938C>T (p.Ala313Val) | |
5 | g.151822836G>C | CA361850008 | GLRA1 | c.1187C>G (p.Ala396Gly) c.1211C>G (p.Ala404Gly) c.*945C>G (n.*945C>G) c.938C>G (p.Ala313Gly) | |
5 | g.151822836G>T | CA361850011 | GLRA1 | c.1187C>A (p.Ala396Glu) c.1211C>A (p.Ala404Glu) c.*945C>A (n.*945C>A) c.938C>A (p.Ala313Glu) | gnomAD v4 |
5 | g.151822837C>A | CA361850014 | GLRA1 | c.1186G>T (p.Ala396Ser) c.1210G>T (p.Ala404Ser) c.*944G>T (n.*944G>T) c.937G>T (p.Ala313Ser) | |
5 | g.151822837C= | CA1591565252 | GLRA1 | c.1186G= (p.Ala396=) c.1210G= (p.Ala404=) c.*944G= (n.*944G=) c.937G= (p.Ala313=) | |
5 | g.151822837C>G | CA361850016 | GLRA1 | c.1186G>C (p.Ala396Pro) c.1210G>C (p.Ala404Pro) c.*944G>C (n.*944G>C) c.937G>C (p.Ala313Pro) | dbSNP |
5 | g.151822837C>T | CA361850017 | GLRA1 | c.1186G>A (p.Ala396Thr) c.1210G>A (p.Ala404Thr) c.*944G>A (n.*944G>A) c.937G>A (p.Ala313Thr) | |
5 | g.151822838A= | CA1591565253 | GLRA1 | c.1185T= (p.Pro395=) c.1209T= (p.Pro403=) c.*943T= (n.*943T=) c.936T= (p.Pro312=) |