Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.151822826_151822835del | CA2768928633 | GLRA1 | c.1188_1197del (p.Ser398GlnfsTer?) c.1212_1221del (p.Ser406GlnfsTer?) c.*946_*955del (n.*946_*955del) c.939_948del (p.Ser315GlnfsTer?) | |
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=) | |
5 | g.151822838A>C | CA447226600 | GLRA1 | c.1185T>G (p.Pro395=) c.1209T>G (p.Pro403=) c.*943T>G (n.*943T>G) c.936T>G (p.Pro312=) | gnomAD v4 |
5 | g.151822838A>G | CA3523487 | GLRA1 | c.1185T>C (p.Pro395=) c.1209T>C (p.Pro403=) c.*943T>C (n.*943T>C) c.936T>C (p.Pro312=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822838A>T | CA447226601 | GLRA1 | c.1185T>A (p.Pro395=) c.1209T>A (p.Pro403=) c.*943T>A (n.*943T>A) c.936T>A (p.Pro312=) | |
5 | g.151822839G>A | CA361850020 | GLRA1 | c.1184C>T (p.Pro395Leu) c.1208C>T (p.Pro403Leu) c.*942C>T (n.*942C>T) c.935C>T (p.Pro312Leu) | |
5 | g.151822839G>C | CA361850023 | GLRA1 | c.1184C>G (p.Pro395Arg) c.1208C>G (p.Pro403Arg) c.*942C>G (n.*942C>G) c.935C>G (p.Pro312Arg) | |
5 | g.151822839G>T | CA361850025 | GLRA1 | c.1184C>A (p.Pro395His) c.1208C>A (p.Pro403His) c.*942C>A (n.*942C>A) c.935C>A (p.Pro312His) | |
5 | g.151822840G>A | CA361850028 | GLRA1 | c.1183C>T (p.Pro395Ser) c.1207C>T (p.Pro403Ser) c.*941C>T (n.*941C>T) c.934C>T (p.Pro312Ser) | gnomAD v4 |
5 | g.151822840G>C | CA361850030 | GLRA1 | c.1183C>G (p.Pro395Ala) c.1207C>G (p.Pro403Ala) c.*941C>G (n.*941C>G) c.934C>G (p.Pro312Ala) | |
5 | g.151822840G>T | CA361850033 | GLRA1 | c.1183C>A (p.Pro395Thr) c.1207C>A (p.Pro403Thr) c.*941C>A (n.*941C>A) c.934C>A (p.Pro312Thr) | |
5 | g.151822841_151822842dup | CA2578460287 | GLRA1 | c.1182_1183dup (p.Pro395LeufsTer?) c.1206_1207dup (p.Pro403LeufsTer?) c.*940_*941dup (n.*940_*941dup) c.933_934dup (p.Pro312LeufsTer?) | |
5 | g.151822841A>C | CA447226603 | GLRA1 | c.1182T>G (p.Pro394=) c.1206T>G (p.Pro402=) c.*940T>G (n.*940T>G) c.933T>G (p.Pro311=) | |
5 | g.151822841A>G | CA447226605 | GLRA1 | c.1182T>C (p.Pro394=) c.1206T>C (p.Pro402=) c.*940T>C (n.*940T>C) c.933T>C (p.Pro311=) | |
5 | g.151822841A>T | CA447226604 | GLRA1 | c.1182T>A (p.Pro394=) c.1206T>A (p.Pro402=) c.*940T>A (n.*940T>A) c.933T>A (p.Pro311=) | |
5 | g.151822841_151822842delinsAG | CA1591565254 | GLRA1 | c.1181_1182delinsCT (p.Pro394=) c.1205_1206delinsCT (p.Pro402=) c.*939_*940delinsCT (n.*939_*940delinsCT) c.932_933delinsCT (p.Pro311=) | |
5 | g.151822841_151822842insCGGC | CA2768928641 | GLRA1 | c.1181_1182insGCCG (p.Ala396SerfsTer5) c.1205_1206insGCCG (p.Ala404SerfsTer5) c.*939_*940insGCCG (n.*939_*940insGCCG) c.932_933insGCCG (p.Ala313SerfsTer5) | |
5 | g.151822842G>A | CA3523488 | GLRA1 | c.1181C>T (p.Pro394Leu) c.1205C>T (p.Pro402Leu) c.*939C>T (n.*939C>T) c.932C>T (p.Pro311Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822842G>C | CA3523489 | GLRA1 | c.1181C>G (p.Pro394Arg) c.1205C>G (p.Pro402Arg) c.*939C>G (n.*939C>G) c.932C>G (p.Pro311Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822842G= | CA1591565255 | GLRA1 | c.1181C= (p.Pro394=) c.1205C= (p.Pro402=) c.*939C= (n.*939C=) c.932C= (p.Pro311=) | |
5 | g.151822842G>T | CA361850037 | GLRA1 | c.1181C>A (p.Pro394His) c.1205C>A (p.Pro402His) c.*939C>A (n.*939C>A) c.932C>A (p.Pro311His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822847dup | CA563958359 | GLRA1 | c.1181dup (p.Pro395SerfsTer5) c.1205dup (p.Pro403SerfsTer5) c.*939dup (n.*939dup) c.932dup (p.Pro312SerfsTer5) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822847del | CA563958358 | GLRA1 | c.1181del (p.Pro394LeufsTer?) c.1205del (p.Pro402LeufsTer?) c.*939del (n.*939del) c.932del (p.Pro311LeufsTer?) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822843G>A | CA361850042 | GLRA1 | c.1180C>T (p.Pro394Ser) c.1204C>T (p.Pro402Ser) c.*938C>T (n.*938C>T) c.931C>T (p.Pro311Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822843G>C | CA3523491 | GLRA1 | c.1180C>G (p.Pro394Ala) c.1204C>G (p.Pro402Ala) c.*938C>G (n.*938C>G) c.931C>G (p.Pro311Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822843G= | CA1591565256 | GLRA1 | c.1180C= (p.Pro394=) c.1204C= (p.Pro402=) c.*938C= (n.*938C=) c.931C= (p.Pro311=) | |
5 | g.151822843G>T | CA3523490 | GLRA1 | c.1180C>A (p.Pro394Thr) c.1204C>A (p.Pro402Thr) c.*938C>A (n.*938C>A) c.931C>A (p.Pro311Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822844G>A | CA3523492 | GLRA1 | c.1179C>T (p.Pro393=) c.1203C>T (p.Pro401=) c.*937C>T (n.*937C>T) c.930C>T (p.Pro310=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822844G>C | CA447226606 | GLRA1 | c.1179C>G (p.Pro393=) c.1203C>G (p.Pro401=) c.*937C>G (n.*937C>G) c.930C>G (p.Pro310=) | gnomAD v4 |
5 | g.151822844G= | CA1591565257 | GLRA1 | c.1179C= (p.Pro393=) c.1203C= (p.Pro401=) c.*937C= (n.*937C=) c.930C= (p.Pro310=) | |
5 | g.151822844G>T | CA447226607 | GLRA1 | c.1179C>A (p.Pro393=) c.1203C>A (p.Pro401=) c.*937C>A (n.*937C>A) c.930C>A (p.Pro310=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822845G>A | CA361850047 | GLRA1 | c.1178C>T (p.Pro393Leu) c.1202C>T (p.Pro401Leu) c.*936C>T (n.*936C>T) c.929C>T (p.Pro310Leu) | |
5 | g.151822845G>C | CA361850048 | GLRA1 | c.1178C>G (p.Pro393Arg) c.1202C>G (p.Pro401Arg) c.*936C>G (n.*936C>G) c.929C>G (p.Pro310Arg) | |
5 | g.151822845G>T | CA361850051 | GLRA1 | c.1178C>A (p.Pro393His) c.1202C>A (p.Pro401His) c.*936C>A (n.*936C>A) c.929C>A (p.Pro310His) | |
5 | g.151822846G>A | CA361850060 | GLRA1 | c.1177C>T (p.Pro393Ser) c.1201C>T (p.Pro401Ser) c.*935C>T (n.*935C>T) c.928C>T (p.Pro310Ser) | |
5 | g.151822846G>C | CA361850056 | GLRA1 | c.1177C>G (p.Pro393Ala) c.1201C>G (p.Pro401Ala) c.*935C>G (n.*935C>G) c.928C>G (p.Pro310Ala) | gnomAD v4 |
5 | g.151822846G>T | CA361850058 | GLRA1 | c.1177C>A (p.Pro393Thr) c.1201C>A (p.Pro401Thr) c.*935C>A (n.*935C>A) c.928C>A (p.Pro310Thr) | |
5 | g.151822847G>A | CA447226608 | GLRA1 | c.1176C>T (p.Asn392=) c.1200C>T (p.Asn400=) c.*934C>T (n.*934C>T) c.927C>T (p.Asn309=) | ClinVar dbSNP |
5 | g.151822847G>C | CA361850063 | GLRA1 | c.1176C>G (p.Asn392Lys) c.1200C>G (p.Asn400Lys) c.*934C>G (n.*934C>G) c.927C>G (p.Asn309Lys) | |
5 | g.151822847G= | CA1591565258 | GLRA1 | c.1176C= (p.Asn392=) c.1200C= (p.Asn400=) c.*934C= (n.*934C=) c.927C= (p.Asn309=) | |
5 | g.151822847G>T | CA361850065 | GLRA1 | c.1176C>A (p.Asn392Lys) c.1200C>A (p.Asn400Lys) c.*934C>A (n.*934C>A) c.927C>A (p.Asn309Lys) | |
5 | g.151822848T>A | CA361850069 | GLRA1 | c.1175A>T (p.Asn392Ile) c.1199A>T (p.Asn400Ile) c.*933A>T (n.*933A>T) c.926A>T (p.Asn309Ile) | |
5 | g.151822848T>C | CA361850070 | GLRA1 | c.1175A>G (p.Asn392Ser) c.1199A>G (p.Asn400Ser) c.*933A>G (n.*933A>G) c.926A>G (p.Asn309Ser) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822848T>G | CA361850073 | GLRA1 | c.1175A>C (p.Asn392Thr) c.1199A>C (p.Asn400Thr) c.*933A>C (n.*933A>C) c.926A>C (p.Asn309Thr) | |
5 | g.151822848T= | CA1591565259 | GLRA1 | c.1175A= (p.Asn392=) c.1199A= (p.Asn400=) c.*933A= (n.*933A=) c.926A= (p.Asn309=) | |
5 | g.151822849T>A | CA361850077 | GLRA1 | c.1174A>T (p.Asn392Tyr) c.1198A>T (p.Asn400Tyr) c.*932A>T (n.*932A>T) c.925A>T (p.Asn309Tyr) | ClinVar dbSNP |
5 | g.151822849T>C | CA3523493 | GLRA1 | c.1174A>G (p.Asn392Asp) c.1198A>G (p.Asn400Asp) c.*932A>G (n.*932A>G) c.925A>G (p.Asn309Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822849T>G | CA361850079 | GLRA1 | c.1174A>C (p.Asn392His) c.1198A>C (p.Asn400His) c.*932A>C (n.*932A>C) c.925A>C (p.Asn309His) | |
5 | g.151822849T= | CA1591565260 | GLRA1 | c.1174A= (p.Asn392=) c.1198A= (p.Asn400=) c.*932A= (n.*932A=) c.925A= (p.Asn309=) | |
5 | g.151822850G>A | CA447226609 | GLRA1 | c.1173C>T (p.Thr391=) c.1197C>T (p.Thr399=) c.*931C>T (n.*931C>T) c.924C>T (p.Thr308=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822850G>C | CA447226610 | GLRA1 | c.1173C>G (p.Thr391=) c.1197C>G (p.Thr399=) c.*931C>G (n.*931C>G) c.924C>G (p.Thr308=) | |
5 | g.151822850G= | CA1591565261 | GLRA1 | c.1173C= (p.Thr391=) c.1197C= (p.Thr399=) c.*931C= (n.*931C=) c.924C= (p.Thr308=) | |
5 | g.151822850G>T | CA447226611 | GLRA1 | c.1173C>A (p.Thr391=) c.1197C>A (p.Thr399=) c.*931C>A (n.*931C>A) c.924C>A (p.Thr308=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822851G>A | CA361850083 | GLRA1 | c.1172C>T (p.Thr391Ile) c.1196C>T (p.Thr399Ile) c.*930C>T (n.*930C>T) c.923C>T (p.Thr308Ile) | dbSNP COSMIC |
5 | g.151822851G>C | CA361850085 | GLRA1 | c.1172C>G (p.Thr391Ser) c.1196C>G (p.Thr399Ser) c.*930C>G (n.*930C>G) c.923C>G (p.Thr308Ser) | |
5 | g.151822851G= | CA1591565262 | GLRA1 | c.1172C= (p.Thr391=) c.1196C= (p.Thr399=) c.*930C= (n.*930C=) c.923C= (p.Thr308=) | |
5 | g.151822851G>T | CA361850087 | GLRA1 | c.1172C>A (p.Thr391Asn) c.1196C>A (p.Thr399Asn) c.*930C>A (n.*930C>A) c.923C>A (p.Thr308Asn) | |
5 | g.151822852T>A | CA361850091 | GLRA1 | c.1171A>T (p.Thr391Ser) c.1195A>T (p.Thr399Ser) c.*929A>T (n.*929A>T) c.922A>T (p.Thr308Ser) | |
5 | g.151822852T>C | CA361850093 | GLRA1 | c.1171A>G (p.Thr391Ala) c.1195A>G (p.Thr399Ala) c.*929A>G (n.*929A>G) c.922A>G (p.Thr308Ala) | |
5 | g.151822852T>G | CA361850094 | GLRA1 | c.1171A>C (p.Thr391Pro) c.1195A>C (p.Thr399Pro) c.*929A>C (n.*929A>C) c.922A>C (p.Thr308Pro) | |
5 | g.151822853G>A | CA447226612 | GLRA1 | c.1170C>T (p.Thr390=) c.1194C>T (p.Thr398=) c.*928C>T (n.*928C>T) c.921C>T (p.Thr307=) | |
5 | g.151822853G>C | CA447226613 | GLRA1 | c.1170C>G (p.Thr390=) c.1194C>G (p.Thr398=) c.*928C>G (n.*928C>G) c.921C>G (p.Thr307=) | gnomAD v4 |
5 | g.151822853G>T | CA447226614 | GLRA1 | c.1170C>A (p.Thr390=) c.1194C>A (p.Thr398=) c.*928C>A (n.*928C>A) c.921C>A (p.Thr307=) | |
5 | g.151822854G>A | CA361850097 | GLRA1 | c.1169C>T (p.Thr390Ile) c.1193C>T (p.Thr398Ile) c.*927C>T (n.*927C>T) c.920C>T (p.Thr307Ile) | |
5 | g.151822854G>C | CA361850100 | GLRA1 | c.1169C>G (p.Thr390Ser) c.1193C>G (p.Thr398Ser) c.*927C>G (n.*927C>G) c.920C>G (p.Thr307Ser) | |
5 | g.151822854G>T | CA361850102 | GLRA1 | c.1169C>A (p.Thr390Asn) c.1193C>A (p.Thr398Asn) c.*927C>A (n.*927C>A) c.920C>A (p.Thr307Asn) | |
5 | g.151822855T>A | CA361850105 | GLRA1 | c.1168A>T (p.Thr390Ser) c.1192A>T (p.Thr398Ser) c.*926A>T (n.*926A>T) c.919A>T (p.Thr307Ser) | |
5 | g.151822855T>C | CA361850107 | GLRA1 | c.1168A>G (p.Thr390Ala) c.1192A>G (p.Thr398Ala) c.*926A>G (n.*926A>G) c.919A>G (p.Thr307Ala) | |
5 | g.151822855T>G | CA361850109 | GLRA1 | c.1168A>C (p.Thr390Pro) c.1192A>C (p.Thr398Pro) c.*926A>C (n.*926A>C) c.919A>C (p.Thr307Pro) | |
5 | g.151822855_151822856delinsTG | CA1591565263 | GLRA1 | c.1167_1168delinsCA (p.Asn389=) c.1191_1192delinsCA (p.Asn397=) c.*925_*926delinsCA (n.*925_*926delinsCA) c.918_919delinsCA (p.Asn306=) | |
5 | g.151822856del | CA1591565264 | GLRA1 | c.1167del (p.Asn389LysfsTer?) c.1191del (p.Asn397LysfsTer?) c.*925del (n.*925del) c.918del (p.Asn306LysfsTer?) | dbSNP gnomAD v4 |
5 | g.151822856G>A | CA447226615 | GLRA1 | c.1167C>T (p.Asn389=) c.1191C>T (p.Asn397=) c.*925C>T (n.*925C>T) c.918C>T (p.Asn306=) | |
5 | g.151822856G>C | CA361850112 | GLRA1 | c.1167C>G (p.Asn389Lys) c.1191C>G (p.Asn397Lys) c.*925C>G (n.*925C>G) c.918C>G (p.Asn306Lys) | |
5 | g.151822856G>T | CA361850114 | GLRA1 | c.1167C>A (p.Asn389Lys) c.1191C>A (p.Asn397Lys) c.*925C>A (n.*925C>A) c.918C>A (p.Asn306Lys) | |
5 | g.151822857T>A | CA361850117 | GLRA1 | c.1166A>T (p.Asn389Ile) c.1190A>T (p.Asn397Ile) c.*924A>T (n.*924A>T) c.917A>T (p.Asn306Ile) | |
5 | g.151822857T>C | CA361850122 | GLRA1 | c.1166A>G (p.Asn389Ser) c.1190A>G (p.Asn397Ser) c.*924A>G (n.*924A>G) c.917A>G (p.Asn306Ser) | gnomAD v4 |
5 | g.151822857T>G | CA3523494 | GLRA1 | c.1166A>C (p.Asn389Thr) c.1190A>C (p.Asn397Thr) c.*924A>C (n.*924A>C) c.917A>C (p.Asn306Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822857T= | CA1591565265 | GLRA1 | c.1166A= (p.Asn389=) c.1190A= (p.Asn397=) c.*924A= (n.*924A=) c.917A= (p.Asn306=) | |
5 | g.151822858T>A | CA361850125 | GLRA1 | c.1165A>T (p.Asn389Tyr) c.1189A>T (p.Asn397Tyr) c.*923A>T (n.*923A>T) c.916A>T (p.Asn306Tyr) | |
5 | g.151822858T>C | CA361850130 | GLRA1 | c.1165A>G (p.Asn389Asp) c.1189A>G (p.Asn397Asp) c.*923A>G (n.*923A>G) c.916A>G (p.Asn306Asp) | |
5 | g.151822858T>G | CA361850127 | GLRA1 | c.1165A>C (p.Asn389His) c.1189A>C (p.Asn397His) c.*923A>C (n.*923A>C) c.916A>C (p.Asn306His) | gnomAD v4 |
5 | g.151822859A>C | CA361850132 | GLRA1 | c.1164T>G (p.Ser388Arg) c.1188T>G (p.Ser396Arg) c.*922T>G (n.*922T>G) c.915T>G (p.Ser305Arg) | |
5 | g.151822859A>G | CA447226616 | GLRA1 | c.1164T>C (p.Ser388=) c.1188T>C (p.Ser396=) c.*922T>C (n.*922T>C) c.915T>C (p.Ser305=) | |
5 | g.151822859A>T | CA361850134 | GLRA1 | c.1164T>A (p.Ser388Arg) c.1188T>A (p.Ser396Arg) c.*922T>A (n.*922T>A) c.915T>A (p.Ser305Arg) | |
5 | g.151822859dup | CA2676107957 | GLRA1 | c.1164dup (p.Asn389Ter) c.1188dup (p.Asn397Ter) c.*922dup (n.*922dup) c.915dup (p.Asn306Ter) | gnomAD v4 |
5 | g.151822860C>A | CA361850138 | GLRA1 | c.1163G>T (p.Ser388Ile) c.1187G>T (p.Ser396Ile) c.*921G>T (n.*921G>T) c.914G>T (p.Ser305Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822860C= | CA1591565267 | GLRA1 | c.1163G= (p.Ser388=) c.1187G= (p.Ser396=) c.*921G= (n.*921G=) c.914G= (p.Ser305=) | |
5 | g.151822860C>G | CA361850143 | GLRA1 | c.1163G>C (p.Ser388Thr) c.1187G>C (p.Ser396Thr) c.*921G>C (n.*921G>C) c.914G>C (p.Ser305Thr) | ClinVar dbSNP |
5 | g.151822860C>T | CA361850140 | GLRA1 | c.1163G>A (p.Ser388Asn) c.1187G>A (p.Ser396Asn) c.*921G>A (n.*921G>A) c.914G>A (p.Ser305Asn) | |
5 | g.151822860_151822863delinsCTGT | CA1591565266 | GLRA1 | c.1160_1163delinsACAG (p.Asn387=) c.1184_1187delinsACAG (p.Asn395=) c.*918_*921delinsACAG (n.*918_*921delinsACAG) c.911_914delinsACAG (p.Asn304=) | |
5 | g.151822861T>A | CA361850147 | GLRA1 | c.1162A>T (p.Ser388Cys) c.1186A>T (p.Ser396Cys) c.*920A>T (n.*920A>T) c.913A>T (p.Ser305Cys) | |
5 | g.151822861T>C | CA361850151 | GLRA1 | c.1162A>G (p.Ser388Gly) c.1186A>G (p.Ser396Gly) c.*920A>G (n.*920A>G) c.913A>G (p.Ser305Gly) | |
5 | g.151822861T>G | CA361850149 | GLRA1 | c.1162A>C (p.Ser388Arg) c.1186A>C (p.Ser396Arg) c.*920A>C (n.*920A>C) c.913A>C (p.Ser305Arg) | |
5 | g.151822866_151822868del | CA563958360 | GLRA1 | c.1160_1162del (p.Asn387del) c.1184_1186del (p.Asn395del) c.*918_*920del (n.*918_*920del) c.911_913del (p.Asn304del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822863_151822886del | CA2580073916 | GLRA1 | c.1139_1162del (p.Ile380_Asn387del) c.1163_1186del (p.Ile388_Asn395del) c.*897_*920del (n.*897_*920del) c.890_913del (p.Ile297_Asn304del) | ClinVar |
5 | g.151822862G>A | CA447226617 | GLRA1 | c.1161C>T (p.Asn387=) c.1185C>T (p.Asn395=) c.*919C>T (n.*919C>T) c.912C>T (p.Asn304=) | dbSNP gnomAD v2 |
5 | g.151822862G>C | CA3523495 | GLRA1 | c.1161C>G (p.Asn387Lys) c.1185C>G (p.Asn395Lys) c.*919C>G (n.*919C>G) c.912C>G (p.Asn304Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822862G= | CA1591565268 | GLRA1 | c.1161C= (p.Asn387=) c.1185C= (p.Asn395=) c.*919C= (n.*919C=) c.912C= (p.Asn304=) | |
5 | g.151822862G>T | CA361850156 | GLRA1 | c.1161C>A (p.Asn387Lys) c.1185C>A (p.Asn395Lys) c.*919C>A (n.*919C>A) c.912C>A (p.Asn304Lys) | |
5 | g.151822863T>A | CA361850159 | GLRA1 | c.1160A>T (p.Asn387Ile) c.1184A>T (p.Asn395Ile) c.*918A>T (n.*918A>T) c.911A>T (p.Asn304Ile) | |
5 | g.151822863T>C | CA361850164 | GLRA1 | c.1160A>G (p.Asn387Ser) c.1184A>G (p.Asn395Ser) c.*918A>G (n.*918A>G) c.911A>G (p.Asn304Ser) | |
5 | g.151822863T>G | CA361850162 | GLRA1 | c.1160A>C (p.Asn387Thr) c.1184A>C (p.Asn395Thr) c.*918A>C (n.*918A>C) c.911A>C (p.Asn304Thr) | dbSNP |
5 | g.151822863T= | CA1591565269 | GLRA1 | c.1160A= (p.Asn387=) c.1184A= (p.Asn395=) c.*918A= (n.*918A=) c.911A= (p.Asn304=) | |
5 | g.151822864T>A | CA361850168 | GLRA1 | c.1159A>T (p.Asn387Tyr) c.1183A>T (p.Asn395Tyr) c.*917A>T (n.*917A>T) c.910A>T (p.Asn304Tyr) | |
5 | g.151822864T>C | CA361850171 | GLRA1 | c.1159A>G (p.Asn387Asp) c.1183A>G (p.Asn395Asp) c.*917A>G (n.*917A>G) c.910A>G (p.Asn304Asp) | |
5 | g.151822864T>G | CA361850173 | GLRA1 | c.1159A>C (p.Asn387His) c.1183A>C (p.Asn395His) c.*917A>C (n.*917A>C) c.910A>C (p.Asn304His) | |
5 | g.151822865G>A | CA447226618 | GLRA1 | c.1158C>T (p.Asn386=) c.1182C>T (p.Asn394=) c.*916C>T (n.*916C>T) c.909C>T (p.Asn303=) | |
5 | g.151822865G>C | CA361850176 | GLRA1 | c.1158C>G (p.Asn386Lys) c.1182C>G (p.Asn394Lys) c.*916C>G (n.*916C>G) c.909C>G (p.Asn303Lys) | |
5 | g.151822865G= | CA1591565270 | GLRA1 | c.1158C= (p.Asn386=) c.1182C= (p.Asn394=) c.*916C= (n.*916C=) c.909C= (p.Asn303=) | |
5 | g.151822865G>T | CA3523496 | GLRA1 | c.1158C>A (p.Asn386Lys) c.1182C>A (p.Asn394Lys) c.*916C>A (n.*916C>A) c.909C>A (p.Asn303Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.151822866T>A | CA361850183 | GLRA1 | c.1157A>T (p.Asn386Ile) c.1181A>T (p.Asn394Ile) c.*915A>T (n.*915A>T) c.908A>T (p.Asn303Ile) | |
5 | g.151822866T>C | CA361850182 | GLRA1 | c.1157A>G (p.Asn386Ser) c.1181A>G (p.Asn394Ser) c.*915A>G (n.*915A>G) c.908A>G (p.Asn303Ser) | |
5 | g.151822866T>G | CA361850180 | GLRA1 | c.1157A>C (p.Asn386Thr) c.1181A>C (p.Asn394Thr) c.*915A>C (n.*915A>C) c.908A>C (p.Asn303Thr) | |
5 | g.151822867T>A | CA361850185 | GLRA1 | c.1156A>T (p.Asn386Tyr) c.1180A>T (p.Asn394Tyr) c.*914A>T (n.*914A>T) c.907A>T (p.Asn303Tyr) | |
5 | g.151822867T>C | CA361850186 | GLRA1 | c.1156A>G (p.Asn386Asp) c.1180A>G (p.Asn394Asp) c.*914A>G (n.*914A>G) c.907A>G (p.Asn303Asp) | |
5 | g.151822867T>G | CA361850187 | GLRA1 | c.1156A>C (p.Asn386His) c.1180A>C (p.Asn394His) c.*914A>C (n.*914A>C) c.907A>C (p.Asn303His) | |
5 | g.151822868G>A | CA447226620 | GLRA1 | c.1155C>T (p.Ala385=) c.1179C>T (p.Ala393=) c.*913C>T (n.*913C>T) c.906C>T (p.Ala302=) | |
5 | g.151822868G>C | CA447226623 | GLRA1 | c.1155C>G (p.Ala385=) c.1179C>G (p.Ala393=) c.*913C>G (n.*913C>G) c.906C>G (p.Ala302=) | |
5 | g.151822868G>T | CA447226621 | GLRA1 | c.1155C>A (p.Ala385=) c.1179C>A (p.Ala393=) c.*913C>A (n.*913C>A) c.906C>A (p.Ala302=) | |
5 | g.151822869G>A | CA361850188 | GLRA1 | c.1154C>T (p.Ala385Val) c.1178C>T (p.Ala393Val) c.*912C>T (n.*912C>T) c.905C>T (p.Ala302Val) | ClinVar |
5 | g.151822869G>C | CA361850189 | GLRA1 | c.1154C>G (p.Ala385Gly) c.1178C>G (p.Ala393Gly) c.*912C>G (n.*912C>G) c.905C>G (p.Ala302Gly) | dbSNP |
5 | g.151822869G= | CA1591565271 | GLRA1 | c.1154C= (p.Ala385=) c.1178C= (p.Ala393=) c.*912C= (n.*912C=) c.905C= (p.Ala302=) | |
5 | g.151822869G>T | CA361850190 | GLRA1 | c.1154C>A (p.Ala385Asp) c.1178C>A (p.Ala393Asp) c.*912C>A (n.*912C>A) c.905C>A (p.Ala302Asp) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822870C>A | CA361850191 | GLRA1 | c.1153G>T (p.Ala385Ser) c.1177G>T (p.Ala393Ser) c.*911G>T (n.*911G>T) c.904G>T (p.Ala302Ser) | |
5 | g.151822870C= | CA1591565272 | GLRA1 | c.1153G= (p.Ala385=) c.1177G= (p.Ala393=) c.*911G= (n.*911G=) c.904G= (p.Ala302=) | |
5 | g.151822870C>G | CA361850192 | GLRA1 | c.1153G>C (p.Ala385Pro) c.1177G>C (p.Ala393Pro) c.*911G>C (n.*911G>C) c.904G>C (p.Ala302Pro) | |
5 | g.151822870C>T | CA3523497 | GLRA1 | c.1153G>A (p.Ala385Thr) c.1177G>A (p.Ala393Thr) c.*911G>A (n.*911G>A) c.904G>A (p.Ala302Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822871G>A | CA3523498 | GLRA1 | c.1152C>T (p.Gly384=) c.1176C>T (p.Gly392=) c.*910C>T (n.*910C>T) c.903C>T (p.Gly301=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822871G>C | CA447226624 | GLRA1 | c.1152C>G (p.Gly384=) c.1176C>G (p.Gly392=) c.*910C>G (n.*910C>G) c.903C>G (p.Gly301=) | |
5 | g.151822871G= | CA1591565273 | GLRA1 | c.1152C= (p.Gly384=) c.1176C= (p.Gly392=) c.*910C= (n.*910C=) c.903C= (p.Gly301=) | |
5 | g.151822871G>T | CA447226625 | GLRA1 | c.1152C>A (p.Gly384=) c.1176C>A (p.Gly392=) c.*910C>A (n.*910C>A) c.903C>A (p.Gly301=) | |
5 | g.151822872C>A | CA361850193 | GLRA1 | c.1151G>T (p.Gly384Val) c.1175G>T (p.Gly392Val) c.*909G>T (n.*909G>T) c.902G>T (p.Gly301Val) | |
5 | g.151822872C= | CA1591565274 | GLRA1 | c.1151G= (p.Gly384=) c.1175G= (p.Gly392=) c.*909G= (n.*909G=) c.902G= (p.Gly301=) | |
5 | g.151822872C>G | CA361850194 | GLRA1 | c.1151G>C (p.Gly384Ala) c.1175G>C (p.Gly392Ala) c.*909G>C (n.*909G>C) c.902G>C (p.Gly301Ala) | |
5 | g.151822872C>T | CA3523499 | GLRA1 | c.1151G>A (p.Gly384Asp) c.1175G>A (p.Gly392Asp) c.*909G>A (n.*909G>A) c.902G>A (p.Gly301Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822873C>A | CA361850195 | GLRA1 | c.1150G>T (p.Gly384Cys) c.1174G>T (p.Gly392Cys) c.*908G>T (n.*908G>T) c.901G>T (p.Gly301Cys) | gnomAD v4 |
5 | g.151822873C>G | CA361850196 | GLRA1 | c.1150G>C (p.Gly384Arg) c.1174G>C (p.Gly392Arg) c.*908G>C (n.*908G>C) c.901G>C (p.Gly301Arg) | |
5 | g.151822873C>T | CA361850197 | GLRA1 | c.1150G>A (p.Gly384Ser) c.1174G>A (p.Gly392Ser) c.*908G>A (n.*908G>A) c.901G>A (p.Gly301Ser) | gnomAD v4 |
5 | g.151822874C>A | CA361850198 | GLRA1 | c.1149G>T (p.Lys383Asn) c.1173G>T (p.Lys391Asn) c.*907G>T (n.*907G>T) c.900G>T (p.Lys300Asn) | |
5 | g.151822874C= | CA1591565275 | GLRA1 | c.1149G= (p.Lys383=) c.1173G= (p.Lys391=) c.*907G= (n.*907G=) c.900G= (p.Lys300=) | |
5 | g.151822874C>G | CA361850199 | GLRA1 | c.1149G>C (p.Lys383Asn) c.1173G>C (p.Lys391Asn) c.*907G>C (n.*907G>C) c.900G>C (p.Lys300Asn) | |
5 | g.151822874C>T | CA3523500 | GLRA1 | c.1149G>A (p.Lys383=) c.1173G>A (p.Lys391=) c.*907G>A (n.*907G>A) c.900G>A (p.Lys300=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822875T>A | CA361850200 | GLRA1 | c.1148A>T (p.Lys383Met) c.1172A>T (p.Lys391Met) c.*906A>T (n.*906A>T) c.899A>T (p.Lys300Met) | |
5 | g.151822875T>C | CA361850202 | GLRA1 | c.1148A>G (p.Lys383Arg) c.1172A>G (p.Lys391Arg) c.*906A>G (n.*906A>G) c.899A>G (p.Lys300Arg) | |
5 | g.151822875T>G | CA361850201 | GLRA1 | c.1148A>C (p.Lys383Thr) c.1172A>C (p.Lys391Thr) c.*906A>C (n.*906A>C) c.899A>C (p.Lys300Thr) | |
5 | g.151822876T>A | CA361850203 | GLRA1 | c.1147A>T (p.Lys383Ter) c.1171A>T (p.Lys391Ter) c.*905A>T (n.*905A>T) c.898A>T (p.Lys300Ter) | |
5 | g.151822876T>C | CA361850204 | GLRA1 | c.1147A>G (p.Lys383Glu) c.1171A>G (p.Lys391Glu) c.*905A>G (n.*905A>G) c.898A>G (p.Lys300Glu) | |
5 | g.151822876T>G | CA361850205 | GLRA1 | c.1147A>C (p.Lys383Gln) c.1171A>C (p.Lys391Gln) c.*905A>C (n.*905A>C) c.898A>C (p.Lys300Gln) | |
5 | g.151822877G>A | CA447226626 | GLRA1 | c.1146C>T (p.Val382=) c.1170C>T (p.Val390=) c.*904C>T (n.*904C>T) c.897C>T (p.Val299=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822877G>C | CA447226627 | GLRA1 | c.1146C>G (p.Val382=) c.1170C>G (p.Val390=) c.*904C>G (n.*904C>G) c.897C>G (p.Val299=) | dbSNP |
5 | g.151822877G= | CA1591565276 | GLRA1 | c.1146C= (p.Val382=) c.1170C= (p.Val390=) c.*904C= (n.*904C=) c.897C= (p.Val299=) | |
5 | g.151822877G>T | CA447226628 | GLRA1 | c.1146C>A (p.Val382=) c.1170C>A (p.Val390=) c.*904C>A (n.*904C>A) c.897C>A (p.Val299=) | |
5 | g.151822878A= | CA1591565277 | GLRA1 | c.1145T= (p.Val382=) c.1169T= (p.Val390=) c.*903T= (n.*903T=) c.896T= (p.Val299=) | |
5 | g.151822878A>C | CA361850206 | GLRA1 | c.1145T>G (p.Val382Gly) c.1169T>G (p.Val390Gly) c.*903T>G (n.*903T>G) c.896T>G (p.Val299Gly) | |
5 | g.151822878A>G | CA3523501 | GLRA1 | c.1145T>C (p.Val382Ala) c.1169T>C (p.Val390Ala) c.*903T>C (n.*903T>C) c.896T>C (p.Val299Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822878A>T | CA361850207 | GLRA1 | c.1145T>A (p.Val382Asp) c.1169T>A (p.Val390Asp) c.*903T>A (n.*903T>A) c.896T>A (p.Val299Asp) | |
5 | g.151822879C>A | CA361850208 | GLRA1 | c.1144G>T (p.Val382Phe) c.1168G>T (p.Val390Phe) c.*902G>T (n.*902G>T) c.895G>T (p.Val299Phe) | |
5 | g.151822879C= | CA1591565278 | GLRA1 | c.1144G= (p.Val382=) c.1168G= (p.Val390=) c.*902G= (n.*902G=) c.895G= (p.Val299=) | |
5 | g.151822879C>G | CA361850209 | GLRA1 | c.1144G>C (p.Val382Leu) c.1168G>C (p.Val390Leu) c.*902G>C (n.*902G>C) c.895G>C (p.Val299Leu) | dbSNP gnomAD v2 |
5 | g.151822879C>T | CA361850210 | GLRA1 | c.1144G>A (p.Val382Ile) c.1168G>A (p.Val390Ile) c.*902G>A (n.*902G>A) c.895G>A (p.Val299Ile) | |
5 | g.151822880T>A | CA447226629 | GLRA1 | c.1143A>T (p.Ser381=) c.1167A>T (p.Ser389=) c.*901A>T (n.*901A>T) c.894A>T (p.Ser298=) | |
5 | g.151822880T>C | CA447226630 | GLRA1 | c.1143A>G (p.Ser381=) c.1167A>G (p.Ser389=) c.*901A>G (n.*901A>G) c.894A>G (p.Ser298=) | |
5 | g.151822880T>G | CA447226631 | GLRA1 | c.1143A>C (p.Ser381=) c.1167A>C (p.Ser389=) c.*901A>C (n.*901A>C) c.894A>C (p.Ser298=) | |
5 | g.151822881G>A | CA3523502 | GLRA1 | c.1142C>T (p.Ser381Leu) c.1166C>T (p.Ser389Leu) c.*900C>T (n.*900C>T) c.893C>T (p.Ser298Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822881G>C | CA361850211 | GLRA1 | c.1142C>G (p.Ser381Ter) c.1166C>G (p.Ser389Ter) c.*900C>G (n.*900C>G) c.893C>G (p.Ser298Ter) | |
5 | g.151822881G= | CA1591565279 | GLRA1 | c.1142C= (p.Ser381=) c.1166C= (p.Ser389=) c.*900C= (n.*900C=) c.893C= (p.Ser298=) | |
5 | g.151822881G>T | CA361850212 | GLRA1 | c.1142C>A (p.Ser381Ter) c.1166C>A (p.Ser389Ter) c.*900C>A (n.*900C>A) c.893C>A (p.Ser298Ter) | |
5 | g.151822882A>C | CA361850213 | GLRA1 | c.1141T>G (p.Ser381Ala) c.1165T>G (p.Ser389Ala) c.*899T>G (n.*899T>G) c.892T>G (p.Ser298Ala) | |
5 | g.151822882A>G | CA361850215 | GLRA1 | c.1141T>C (p.Ser381Pro) c.1165T>C (p.Ser389Pro) c.*899T>C (n.*899T>C) c.892T>C (p.Ser298Pro) | |
5 | g.151822882A>T | CA361850214 | GLRA1 | c.1141T>A (p.Ser381Thr) c.1165T>A (p.Ser389Thr) c.*899T>A (n.*899T>A) c.892T>A (p.Ser298Thr) | |
5 | g.151822883G>A | CA447226633 | GLRA1 | c.1140C>T (p.Ile380=) c.1164C>T (p.Ile388=) c.*898C>T (n.*898C>T) c.891C>T (p.Ile297=) | |
5 | g.151822883G>C | CA130006384 | GLRA1 | c.1140C>G (p.Ile380Met) c.1164C>G (p.Ile388Met) c.*898C>G (n.*898C>G) c.891C>G (p.Ile297Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822883G= | CA1591565280 | GLRA1 | c.1140C= (p.Ile380=) c.1164C= (p.Ile388=) c.*898C= (n.*898C=) c.891C= (p.Ile297=) | |
5 | g.151822883G>T | CA447226634 | GLRA1 | c.1140C>A (p.Ile380=) c.1164C>A (p.Ile388=) c.*898C>A (n.*898C>A) c.891C>A (p.Ile297=) | |
5 | g.151822884A>C | CA361850216 | GLRA1 | c.1139T>G (p.Ile380Ser) c.1163T>G (p.Ile388Ser) c.*897T>G (n.*897T>G) c.890T>G (p.Ile297Ser) | |
5 | g.151822884A>G | CA361850217 | GLRA1 | c.1139T>C (p.Ile380Thr) c.1163T>C (p.Ile388Thr) c.*897T>C (n.*897T>C) c.890T>C (p.Ile297Thr) | |
5 | g.151822884A>T | CA361850218 | GLRA1 | c.1139T>A (p.Ile380Asn) c.1163T>A (p.Ile388Asn) c.*897T>A (n.*897T>A) c.890T>A (p.Ile297Asn) | |
5 | g.151822885T>A | CA361850219 | GLRA1 | c.1138A>T (p.Ile380Phe) c.1162A>T (p.Ile388Phe) c.*896A>T (n.*896A>T) c.889A>T (p.Ile297Phe) | |
5 | g.151822885T>C | CA361850220 | GLRA1 | c.1138A>G (p.Ile380Val) c.1162A>G (p.Ile388Val) c.*896A>G (n.*896A>G) c.889A>G (p.Ile297Val) | |
5 | g.151822885T>G | CA361850221 | GLRA1 | c.1138A>C (p.Ile380Leu) c.1162A>C (p.Ile388Leu) c.*896A>C (n.*896A>C) c.889A>C (p.Ile297Leu) | |
5 | g.151822886G>A | CA447226635 | GLRA1 | c.1137C>T (p.Gly379=) c.1161C>T (p.Gly387=) c.*895C>T (n.*895C>T) c.888C>T (p.Gly296=) | |
5 | g.151822886G>C | CA447226636 | GLRA1 | c.1137C>G (p.Gly379=) c.1161C>G (p.Gly387=) c.*895C>G (n.*895C>G) c.888C>G (p.Gly296=) | |
5 | g.151822886G>T | CA447226637 | GLRA1 | c.1137C>A (p.Gly379=) c.1161C>A (p.Gly387=) c.*895C>A (n.*895C>A) c.888C>A (p.Gly296=) | |
5 | g.151822887C>A | CA361850222 | GLRA1 | c.1136G>T (p.Gly379Val) c.1160G>T (p.Gly387Val) c.*894G>T (n.*894G>T) c.887G>T (p.Gly296Val) | gnomAD v4 |
5 | g.151822887C>G | CA361850223 | GLRA1 | c.1136G>C (p.Gly379Ala) c.1160G>C (p.Gly387Ala) c.*894G>C (n.*894G>C) c.887G>C (p.Gly296Ala) | |
5 | g.151822887C>T | CA361850224 | GLRA1 | c.1136G>A (p.Gly379Asp) c.1160G>A (p.Gly387Asp) c.*894G>A (n.*894G>A) c.887G>A (p.Gly296Asp) | ClinVar dbSNP |
5 | g.151822888C>A | CA361850225 | GLRA1 | c.1135G>T (p.Gly379Cys) c.1159G>T (p.Gly387Cys) c.*893G>T (n.*893G>T) c.886G>T (p.Gly296Cys) | |
5 | g.151822888C= | CA1591565281 | GLRA1 | c.1135G= (p.Gly379=) c.1159G= (p.Gly387=) c.*893G= (n.*893G=) c.886G= (p.Gly296=) | |
5 | g.151822888C>G | CA361850226 | GLRA1 | c.1135G>C (p.Gly379Arg) c.1159G>C (p.Gly387Arg) c.*893G>C (n.*893G>C) c.886G>C (p.Gly296Arg) | |
5 | g.151822888C>T | CA3523503 | GLRA1 | c.1135G>A (p.Gly379Ser) c.1159G>A (p.Gly387Ser) c.*893G>A (n.*893G>A) c.886G>A (p.Gly296Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822889A= | CA1591565282 | GLRA1 | c.1134T= (p.Asp378=) c.1158T= (p.Asp386=) c.*892T= (n.*892T=) c.885T= (p.Asp295=) | |
5 | g.151822889A>C | CA361850228 | GLRA1 | c.1134T>G (p.Asp378Glu) c.1158T>G (p.Asp386Glu) c.*892T>G (n.*892T>G) c.885T>G (p.Asp295Glu) | |
5 | g.151822889A>G | CA3523504 | GLRA1 | c.1134T>C (p.Asp378=) c.1158T>C (p.Asp386=) c.*892T>C (n.*892T>C) c.885T>C (p.Asp295=) | ClinVar dbSNP ExAC |
5 | g.151822889A>T | CA361850227 | GLRA1 | c.1134T>A (p.Asp378Glu) c.1158T>A (p.Asp386Glu) c.*892T>A (n.*892T>A) c.885T>A (p.Asp295Glu) | |
5 | g.151822890T>A | CA361850229 | GLRA1 | c.1133A>T (p.Asp378Val) c.1157A>T (p.Asp386Val) c.*891A>T (n.*891A>T) c.884A>T (p.Asp295Val) | |
5 | g.151822890T>C | CA361850230 | GLRA1 | c.1133A>G (p.Asp378Gly) c.1157A>G (p.Asp386Gly) c.*891A>G (n.*891A>G) c.884A>G (p.Asp295Gly) | |
5 | g.151822890T>G | CA361850231 | GLRA1 | c.1133A>C (p.Asp378Ala) c.1157A>C (p.Asp386Ala) c.*891A>C (n.*891A>C) c.884A>C (p.Asp295Ala) | |
5 | g.151822891C>A | CA3523505 | GLRA1 | c.1132G>T (p.Asp378Tyr) c.1156G>T (p.Asp386Tyr) c.*890G>T (n.*890G>T) c.883G>T (p.Asp295Tyr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822891C= | CA1591565283 | GLRA1 | c.1132G= (p.Asp378=) c.1156G= (p.Asp386=) c.*890G= (n.*890G=) c.883G= (p.Asp295=) | |
5 | g.151822891C>G | CA361850232 | GLRA1 | c.1132G>C (p.Asp378His) c.1156G>C (p.Asp386His) c.*890G>C (n.*890G>C) c.883G>C (p.Asp295His) | |
5 | g.151822891C>T | CA361850233 | GLRA1 | c.1132G>A (p.Asp378Asn) c.1156G>A (p.Asp386Asn) c.*890G>A (n.*890G>A) c.883G>A (p.Asp295Asn) | |
5 | g.151822892C>A | CA361850234 | GLRA1 | c.1131G>T (p.Lys377Asn) c.1155G>T (p.Lys385Asn) c.*889G>T (n.*889G>T) c.882G>T (p.Lys294Asn) | |
5 | g.151822892C>G | CA361850235 | GLRA1 | c.1131G>C (p.Lys377Asn) c.1155G>C (p.Lys385Asn) c.*889G>C (n.*889G>C) c.882G>C (p.Lys294Asn) | |
5 | g.151822892C>T | CA447226638 | GLRA1 | c.1131G>A (p.Lys377=) c.1155G>A (p.Lys385=) c.*889G>A (n.*889G>A) c.882G>A (p.Lys294=) | |
5 | g.151822893T>A | CA361850236 | GLRA1 | c.1130A>T (p.Lys377Met) c.1154A>T (p.Lys385Met) c.*888A>T (n.*888A>T) c.881A>T (p.Lys294Met) | |
5 | g.151822893T>C | CA3523506 | GLRA1 | c.1130A>G (p.Lys377Arg) c.1154A>G (p.Lys385Arg) c.*888A>G (n.*888A>G) c.881A>G (p.Lys294Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822893T>G | CA361850237 | GLRA1 | c.1130A>C (p.Lys377Thr) c.1154A>C (p.Lys385Thr) c.*888A>C (n.*888A>C) c.881A>C (p.Lys294Thr) | |
5 | g.151822893T= | CA1591565284 | GLRA1 | c.1130A= (p.Lys377=) c.1154A= (p.Lys385=) c.*888A= (n.*888A=) c.881A= (p.Lys294=) | |
5 | g.151822894T>A | CA361850240 | GLRA1 | c.1129A>T (p.Lys377Ter) c.1153A>T (p.Lys385Ter) c.*887A>T (n.*887A>T) c.880A>T (p.Lys294Ter) | |
5 | g.151822894T>C | CA361850238 | GLRA1 | c.1129A>G (p.Lys377Glu) c.1153A>G (p.Lys385Glu) c.*887A>G (n.*887A>G) c.880A>G (p.Lys294Glu) | |
5 | g.151822894T>G | CA361850239 | GLRA1 | c.1129A>C (p.Lys377Gln) c.1153A>C (p.Lys385Gln) c.*887A>C (n.*887A>C) c.880A>C (p.Lys294Gln) | |
5 | g.151822895G>A | CA447226639 | GLRA1 | c.1128C>T (p.Ala376=) c.1152C>T (p.Ala384=) c.*886C>T (n.*886C>T) c.879C>T (p.Ala293=) | gnomAD v4 |
5 | g.151822895G>C | CA447226641 | GLRA1 | c.1128C>G (p.Ala376=) c.1152C>G (p.Ala384=) c.*886C>G (n.*886C>G) c.879C>G (p.Ala293=) | |
5 | g.151822895G>T | CA447226640 | GLRA1 | c.1128C>A (p.Ala376=) c.1152C>A (p.Ala384=) c.*886C>A (n.*886C>A) c.879C>A (p.Ala293=) | |
5 | g.151822896G>A | CA361850241 | GLRA1 | c.1127C>T (p.Ala376Val) c.1151C>T (p.Ala384Val) c.*885C>T (n.*885C>T) c.878C>T (p.Ala293Val) | dbSNP gnomAD v2 |
5 | g.151822896G>C | CA361850242 | GLRA1 | c.1127C>G (p.Ala376Gly) c.1151C>G (p.Ala384Gly) c.*885C>G (n.*885C>G) c.878C>G (p.Ala293Gly) | |
5 | g.151822896G= | CA1591565285 | GLRA1 | c.1127C= (p.Ala376=) c.1151C= (p.Ala384=) c.*885C= (n.*885C=) c.878C= (p.Ala293=) | |
5 | g.151822896G>T | CA361850243 | GLRA1 | c.1127C>A (p.Ala376Asp) c.1151C>A (p.Ala384Asp) c.*885C>A (n.*885C>A) c.878C>A (p.Ala293Asp) | |
5 | g.151822897C>A | CA361850244 | GLRA1 | c.1126G>T (p.Ala376Ser) c.1150G>T (p.Ala384Ser) c.*884G>T (n.*884G>T) c.877G>T (p.Ala293Ser) | |
5 | g.151822897C>G | CA361850245 | GLRA1 | c.1126G>C (p.Ala376Pro) c.1150G>C (p.Ala384Pro) c.*884G>C (n.*884G>C) c.877G>C (p.Ala293Pro) | |
5 | g.151822897C>T | CA361850246 | GLRA1 | c.1126G>A (p.Ala376Thr) c.1150G>A (p.Ala384Thr) c.*884G>A (n.*884G>A) c.877G>A (p.Ala293Thr) | |
5 | g.151822898C>A | CA361850247 | GLRA1 | c.1125G>T (p.Gln375His) c.1149G>T (p.Gln383His) c.*883G>T (n.*883G>T) c.876G>T (p.Gln292His) | COSMIC |
5 | g.151822898C= | CA1591565286 | GLRA1 | c.1125G= (p.Gln375=) c.1149G= (p.Gln383=) c.*883G= (n.*883G=) c.876G= (p.Gln292=) | |
5 | g.151822898C>G | CA361850248 | GLRA1 | c.1125G>C (p.Gln375His) c.1149G>C (p.Gln383His) c.*883G>C (n.*883G>C) c.876G>C (p.Gln292His) | dbSNP |
5 | g.151822898C>T | CA447226642 | GLRA1 | c.1125G>A (p.Gln375=) c.1149G>A (p.Gln383=) c.*883G>A (n.*883G>A) c.876G>A (p.Gln292=) | |
5 | g.151822899T>A | CA361850249 | GLRA1 | c.1124A>T (p.Gln375Leu) c.1148A>T (p.Gln383Leu) c.*882A>T (n.*882A>T) c.875A>T (p.Gln292Leu) | ClinVar dbSNP |
5 | g.151822899T>C | CA361850250 | GLRA1 | c.1124A>G (p.Gln375Arg) c.1148A>G (p.Gln383Arg) c.*882A>G (n.*882A>G) c.875A>G (p.Gln292Arg) | |
5 | g.151822899T>G | CA361850251 | GLRA1 | c.1124A>C (p.Gln375Pro) c.1148A>C (p.Gln383Pro) c.*882A>C (n.*882A>C) c.875A>C (p.Gln292Pro) | |
5 | g.151822899T= | CA1591565287 | GLRA1 | c.1124A= (p.Gln375=) c.1148A= (p.Gln383=) c.*882A= (n.*882A=) c.875A= (p.Gln292=) | |
5 | g.151822900G>A | CA361850254 | GLRA1 | c.1123C>T (p.Gln375Ter) c.1147C>T (p.Gln383Ter) c.*881C>T (n.*881C>T) c.874C>T (p.Gln292Ter) | gnomAD v4 |
5 | g.151822900G>C | CA361850253 | GLRA1 | c.1123C>G (p.Gln375Glu) c.1147C>G (p.Gln383Glu) c.*881C>G (n.*881C>G) c.874C>G (p.Gln292Glu) | |
5 | g.151822900G>T | CA361850252 | GLRA1 | c.1123C>A (p.Gln375Lys) c.1147C>A (p.Gln383Lys) c.*881C>A (n.*881C>A) c.874C>A (p.Gln292Lys) | |
5 | g.151822901T>A | CA447226643 | GLRA1 | c.1122A>T (p.Leu374=) c.1146A>T (p.Leu382=) c.*880A>T (n.*880A>T) c.873A>T (p.Leu291=) | |
5 | g.151822901T>C | CA447226645 | GLRA1 | c.1122A>G (p.Leu374=) c.1146A>G (p.Leu382=) c.*880A>G (n.*880A>G) c.873A>G (p.Leu291=) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822901T>G | CA447226644 | GLRA1 | c.1122A>C (p.Leu374=) c.1146A>C (p.Leu382=) c.*880A>C (n.*880A>C) c.873A>C (p.Leu291=) | |
5 | g.151822901T= | CA1591565288 | GLRA1 | c.1122A= (p.Leu374=) c.1146A= (p.Leu382=) c.*880A= (n.*880A=) c.873A= (p.Leu291=) | |
5 | g.151822902A>C | CA361850255 | GLRA1 | c.1121T>G (p.Leu374Arg) c.1145T>G (p.Leu382Arg) c.*879T>G (n.*879T>G) c.872T>G (p.Leu291Arg) | |
5 | g.151822902A>G | CA361850256 | GLRA1 | c.1121T>C (p.Leu374Pro) c.1145T>C (p.Leu382Pro) c.*879T>C (n.*879T>C) c.872T>C (p.Leu291Pro) | |
5 | g.151822902A>T | CA361850257 | GLRA1 | c.1121T>A (p.Leu374Gln) c.1145T>A (p.Leu382Gln) c.*879T>A (n.*879T>A) c.872T>A (p.Leu291Gln) | |
5 | g.151822903G>A | CA447226647 | GLRA1 | c.1120C>T (p.Leu374=) c.1144C>T (p.Leu382=) c.*878C>T (n.*878C>T) c.871C>T (p.Leu291=) | |
5 | g.151822903G>C | CA361850258 | GLRA1 | c.1120C>G (p.Leu374Val) c.1144C>G (p.Leu382Val) c.*878C>G (n.*878C>G) c.871C>G (p.Leu291Val) | |
5 | g.151822903G>T | CA361850259 | GLRA1 | c.1120C>A (p.Leu374Ile) c.1144C>A (p.Leu382Ile) c.*878C>A (n.*878C>A) c.871C>A (p.Leu291Ile) | |
5 | g.151822904A>C | CA361850260 | GLRA1 | c.1119T>G (p.Cys373Trp) c.1143T>G (p.Cys381Trp) c.*877T>G (n.*877T>G) c.870T>G (p.Cys290Trp) | |
5 | g.151822904A>G | CA447226648 | GLRA1 | c.1119T>C (p.Cys373=) c.1143T>C (p.Cys381=) c.*877T>C (n.*877T>C) c.870T>C (p.Cys290=) | |
5 | g.151822904A>T | CA361850261 | GLRA1 | c.1119T>A (p.Cys373Ter) c.1143T>A (p.Cys381Ter) c.*877T>A (n.*877T>A) c.870T>A (p.Cys290Ter) | |
5 | g.151822905C>A | CA361850262 | GLRA1 | c.1118G>T (p.Cys373Phe) c.1142G>T (p.Cys381Phe) c.*876G>T (n.*876G>T) c.869G>T (p.Cys290Phe) | |
5 | g.151822905C>G | CA361850263 | GLRA1 | c.1118G>C (p.Cys373Ser) c.1142G>C (p.Cys381Ser) c.*876G>C (n.*876G>C) c.869G>C (p.Cys290Ser) | |
5 | g.151822905C>T | CA361850264 | GLRA1 | c.1118G>A (p.Cys373Tyr) c.1142G>A (p.Cys381Tyr) c.*876G>A (n.*876G>A) c.869G>A (p.Cys290Tyr) | |
5 | g.151822906A>C | CA361850265 | GLRA1 | c.1117T>G (p.Cys373Gly) c.1141T>G (p.Cys381Gly) c.*875T>G (n.*875T>G) c.868T>G (p.Cys290Gly) | |
5 | g.151822906A>G | CA361850266 | GLRA1 | c.1117T>C (p.Cys373Arg) c.1141T>C (p.Cys381Arg) c.*875T>C (n.*875T>C) c.868T>C (p.Cys290Arg) | |
5 | g.151822906A>T | CA361850267 | GLRA1 | c.1117T>A (p.Cys373Ser) c.1141T>A (p.Cys381Ser) c.*875T>A (n.*875T>A) c.868T>A (p.Cys290Ser) | |
5 | g.151822907G>A | CA447226649 | GLRA1 | c.1116C>T (p.Ala372=) c.1140C>T (p.Ala380=) c.*874C>T (n.*874C>T) c.867C>T (p.Ala289=) | |
5 | g.151822907G>C | CA447226650 | GLRA1 | c.1116C>G (p.Ala372=) c.1140C>G (p.Ala380=) c.*874C>G (n.*874C>G) c.867C>G (p.Ala289=) | |
5 | g.151822907G>T | CA447226651 | GLRA1 | c.1116C>A (p.Ala372=) c.1140C>A (p.Ala380=) c.*874C>A (n.*874C>A) c.867C>A (p.Ala289=) | |
5 | g.151822908G>A | CA361850270 | GLRA1 | c.1115C>T (p.Ala372Val) c.1139C>T (p.Ala380Val) c.*873C>T (n.*873C>T) c.866C>T (p.Ala289Val) | |
5 | g.151822908G>C | CA361850268 | GLRA1 | c.1115C>G (p.Ala372Gly) c.1139C>G (p.Ala380Gly) c.*873C>G (n.*873C>G) c.866C>G (p.Ala289Gly) | |
5 | g.151822908G>T | CA361850269 | GLRA1 | c.1115C>A (p.Ala372Asp) c.1139C>A (p.Ala380Asp) c.*873C>A (n.*873C>A) c.866C>A (p.Ala289Asp) | |
5 | g.151822909C>A | CA361850271 | GLRA1 | c.1114G>T (p.Ala372Ser) c.1138G>T (p.Ala380Ser) c.*872G>T (n.*872G>T) c.865G>T (p.Ala289Ser) | |
5 | g.151822909C>G | CA361850272 | GLRA1 | c.1114G>C (p.Ala372Pro) c.1138G>C (p.Ala380Pro) c.*872G>C (n.*872G>C) c.865G>C (p.Ala289Pro) | |
5 | g.151822909C>T | CA361850273 | GLRA1 | c.1114G>A (p.Ala372Thr) c.1138G>A (p.Ala380Thr) c.*872G>A (n.*872G>A) c.865G>A (p.Ala289Thr) | |
5 | g.151822910T>A | CA447226654 | GLRA1 | c.1113A>T (p.Pro371=) c.1137A>T (p.Pro379=) c.*871A>T (n.*871A>T) c.864A>T (p.Pro288=) | |
5 | g.151822910T>C | CA447226652 | GLRA1 | c.1113A>G (p.Pro371=) c.1137A>G (p.Pro379=) c.*871A>G (n.*871A>G) c.864A>G (p.Pro288=) | |
5 | g.151822910T>G | CA447226653 | GLRA1 | c.1113A>C (p.Pro371=) c.1137A>C (p.Pro379=) c.*871A>C (n.*871A>C) c.864A>C (p.Pro288=) | |
5 | g.151822911G>A | CA361850274 | GLRA1 | c.1112C>T (p.Pro371Leu) c.1136C>T (p.Pro379Leu) c.*870C>T (n.*870C>T) c.863C>T (p.Pro288Leu) | |
5 | g.151822911G>C | CA361850275 | GLRA1 | c.1112C>G (p.Pro371Arg) c.1136C>G (p.Pro379Arg) c.*870C>G (n.*870C>G) c.863C>G (p.Pro288Arg) | |
5 | g.151822911G>T | CA361850276 | GLRA1 | c.1112C>A (p.Pro371Gln) c.1136C>A (p.Pro379Gln) c.*870C>A (n.*870C>A) c.863C>A (p.Pro288Gln) | |
5 | g.151822912G>A | CA361850277 | GLRA1 | c.1111C>T (p.Pro371Ser) c.1135C>T (p.Pro379Ser) c.*869C>T (n.*869C>T) c.862C>T (p.Pro288Ser) | |
5 | g.151822912G>C | CA361850278 | GLRA1 | c.1111C>G (p.Pro371Ala) c.1135C>G (p.Pro379Ala) c.*869C>G (n.*869C>G) c.862C>G (p.Pro288Ala) | |
5 | g.151822912G>T | CA361850279 | GLRA1 | c.1111C>A (p.Pro371Thr) c.1135C>A (p.Pro379Thr) c.*869C>A (n.*869C>A) c.862C>A (p.Pro288Thr) | gnomAD v4 |
5 | g.151822913G>A | CA3523507 | GLRA1 | c.1110C>T (p.Gly370=) c.1134C>T (p.Gly378=) c.*868C>T (n.*868C>T) c.861C>T (p.Gly287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822913G>C | CA447226656 | GLRA1 | c.1110C>G (p.Gly370=) c.1134C>G (p.Gly378=) c.*868C>G (n.*868C>G) c.861C>G (p.Gly287=) | |
5 | g.151822913G= | CA1591565289 | GLRA1 | c.1110C= (p.Gly370=) c.1134C= (p.Gly378=) c.*868C= (n.*868C=) c.861C= (p.Gly287=) | |
5 | g.151822913G>T | CA447226657 | GLRA1 | c.1110C>A (p.Gly370=) c.1134C>A (p.Gly378=) c.*868C>A (n.*868C>A) c.861C>A (p.Gly287=) | dbSNP gnomAD v4 |
5 | g.151822914C>A | CA361850280 | GLRA1 | c.1109G>T (p.Gly370Val) c.1133G>T (p.Gly378Val) c.*867G>T (n.*867G>T) c.860G>T (p.Gly287Val) | |
5 | g.151822914C>G | CA361850281 | GLRA1 | c.1109G>C (p.Gly370Ala) c.1133G>C (p.Gly378Ala) c.*867G>C (n.*867G>C) c.860G>C (p.Gly287Ala) | |
5 | g.151822914C>T | CA361850282 | GLRA1 | c.1109G>A (p.Gly370Asp) c.1133G>A (p.Gly378Asp) c.*867G>A (n.*867G>A) c.860G>A (p.Gly287Asp) | |
5 | g.151822915C>A | CA361850283 | GLRA1 | c.1108G>T (p.Gly370Cys) c.1132G>T (p.Gly378Cys) c.*866G>T (n.*866G>T) c.859G>T (p.Gly287Cys) | |
5 | g.151822915C= | CA1591565290 | GLRA1 | c.1108G= (p.Gly370=) c.1132G= (p.Gly378=) c.*866G= (n.*866G=) c.859G= (p.Gly287=) | |
5 | g.151822915C>G | CA361850284 | GLRA1 | c.1108G>C (p.Gly370Arg) c.1132G>C (p.Gly378Arg) c.*866G>C (n.*866G>C) c.859G>C (p.Gly287Arg) | |
5 | g.151822915C>T | CA342947 | GLRA1 | c.1108G>A (p.Gly370Ser) c.1132G>A (p.Gly378Ser) c.*866G>A (n.*866G>A) c.859G>A (p.Gly287Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822916C>A | CA361850286 | GLRA1 | c.1107G>T (p.Met369Ile) c.1131G>T (p.Met377Ile) c.*865G>T (n.*865G>T) c.858G>T (p.Met286Ile) | |
5 | g.151822916C>G | CA361850285 | GLRA1 | c.1107G>C (p.Met369Ile) c.1131G>C (p.Met377Ile) c.*865G>C (n.*865G>C) c.858G>C (p.Met286Ile) | |
5 | g.151822916C>T | CA361850287 | GLRA1 | c.1107G>A (p.Met369Ile) c.1131G>A (p.Met377Ile) c.*865G>A (n.*865G>A) c.858G>A (p.Met286Ile) | |
5 | g.151822917A>C | CA361850288 | GLRA1 | c.1106T>G (p.Met369Arg) c.1130T>G (p.Met377Arg) c.*864T>G (n.*864T>G) c.857T>G (p.Met286Arg) | |
5 | g.151822917A>G | CA361850289 | GLRA1 | c.1106T>C (p.Met369Thr) c.1130T>C (p.Met377Thr) c.*864T>C (n.*864T>C) c.857T>C (p.Met286Thr) | gnomAD v4 |
5 | g.151822917A>T | CA361850290 | GLRA1 | c.1106T>A (p.Met369Lys) c.1130T>A (p.Met377Lys) c.*864T>A (n.*864T>A) c.857T>A (p.Met286Lys) | |
5 | g.151822918T>A | CA361850291 | GLRA1 | c.1105A>T (p.Met369Leu) c.1129A>T (p.Met377Leu) c.*863A>T (n.*863A>T) c.856A>T (p.Met286Leu) | |
5 | g.151822918T>C | CA361850292 | GLRA1 | c.1105A>G (p.Met369Val) c.1129A>G (p.Met377Val) c.*863A>G (n.*863A>G) c.856A>G (p.Met286Val) | |
5 | g.151822918T>G | CA361850293 | GLRA1 | c.1105A>C (p.Met369Leu) c.1129A>C (p.Met377Leu) c.*863A>C (n.*863A>C) c.856A>C (p.Met286Leu) | |
5 | g.151822919C>A | CA447226658 | GLRA1 | c.1104G>T (p.Gly368=) c.1128G>T (p.Gly376=) c.*862G>T (n.*862G>T) c.855G>T (p.Gly285=) | |
5 | g.151822919C= | CA1591565291 | GLRA1 | c.1104G= (p.Gly368=) c.1128G= (p.Gly376=) c.*862G= (n.*862G=) c.855G= (p.Gly285=) | |
5 | g.151822919C>G | CA447226659 | GLRA1 | c.1104G>C (p.Gly368=) c.1128G>C (p.Gly376=) c.*862G>C (n.*862G>C) c.855G>C (p.Gly285=) | dbSNP |
5 | g.151822919C>T | CA447226660 | GLRA1 | c.1104G>A (p.Gly368=) c.1128G>A (p.Gly376=) c.*862G>A (n.*862G>A) c.855G>A (p.Gly285=) | |
5 | g.151822920C>A | CA361850294 | GLRA1 | c.1103G>T (p.Gly368Val) c.1127G>T (p.Gly376Val) c.*861G>T (n.*861G>T) c.854G>T (p.Gly285Val) | |
5 | g.151822920C= | CA1591565292 | GLRA1 | c.1103G= (p.Gly368=) c.1127G= (p.Gly376=) c.*861G= (n.*861G=) c.854G= (p.Gly285=) | |
5 | g.151822920C>G | CA361850295 | GLRA1 | c.1103G>C (p.Gly368Ala) c.1127G>C (p.Gly376Ala) c.*861G>C (n.*861G>C) c.854G>C (p.Gly285Ala) | |
5 | g.151822920C>T | CA361850296 | GLRA1 | c.1103G>A (p.Gly368Glu) c.1127G>A (p.Gly376Glu) c.*861G>A (n.*861G>A) c.854G>A (p.Gly285Glu) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.151822921C>A | CA361850297 | GLRA1 | c.1102G>T (p.Gly368Trp) c.1126G>T (p.Gly376Trp) c.*860G>T (n.*860G>T) c.853G>T (p.Gly285Trp) | |
5 | g.151822921C>G | CA361850298 | GLRA1 | c.1102G>C (p.Gly368Arg) c.1126G>C (p.Gly376Arg) c.*860G>C (n.*860G>C) c.853G>C (p.Gly285Arg) | |
5 | g.151822921C>T | CA361850299 | GLRA1 | c.1102G>A (p.Gly368Arg) c.1126G>A (p.Gly376Arg) c.*860G>A (n.*860G>A) c.853G>A (p.Gly285Arg) | gnomAD v4 |
5 | g.151822922A= | CA1591565293 | GLRA1 | c.1101T= (p.Tyr367=) c.1125T= (p.Tyr375=) c.*859T= (n.*859T=) c.852T= (p.Tyr284=) | |
5 | g.151822922A>C | CA361850301 | GLRA1 | c.1101T>G (p.Tyr367Ter) c.1125T>G (p.Tyr375Ter) c.*859T>G (n.*859T>G) c.852T>G (p.Tyr284Ter) | |
5 | g.151822922A>G | CA3523508 | GLRA1 | c.1101T>C (p.Tyr367=) c.1125T>C (p.Tyr375=) c.*859T>C (n.*859T>C) c.852T>C (p.Tyr284=) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
5 | g.151822922A>T | CA361850300 | GLRA1 | c.1101T>A (p.Tyr367Ter) c.1125T>A (p.Tyr375Ter) c.*859T>A (n.*859T>A) c.852T>A (p.Tyr284Ter) | ClinVar dbSNP |
5 | g.151822923T>A | CA361850302 | GLRA1 | c.1100A>T (p.Tyr367Phe) c.1124A>T (p.Tyr375Phe) c.*858A>T (n.*858A>T) c.851A>T (p.Tyr284Phe) | |
5 | g.151822923T>C | CA361850303 | GLRA1 | c.1100A>G (p.Tyr367Cys) c.1124A>G (p.Tyr375Cys) c.*858A>G (n.*858A>G) c.851A>G (p.Tyr284Cys) | |
5 | g.151822923T>G | CA361850304 | GLRA1 | c.1100A>C (p.Tyr367Ser) c.1124A>C (p.Tyr375Ser) c.*858A>C (n.*858A>C) c.851A>C (p.Tyr284Ser) | |
5 | g.151822924A= | CA1591565294 | GLRA1 | c.1099T= (p.Tyr367=) c.1123T= (p.Tyr375=) c.*857T= (n.*857T=) c.850T= (p.Tyr284=) | |
5 | g.151822924A>C | CA361850305 | GLRA1 | c.1099T>G (p.Tyr367Asp) c.1123T>G (p.Tyr375Asp) c.*857T>G (n.*857T>G) c.850T>G (p.Tyr284Asp) | |
5 | g.151822924A>G | CA361850306 | GLRA1 | c.1099T>C (p.Tyr367His) c.1123T>C (p.Tyr375His) c.*857T>C (n.*857T>C) c.850T>C (p.Tyr284His) | dbSNP |
5 | g.151822924A>T | CA361850307 | GLRA1 | c.1099T>A (p.Tyr367Asn) c.1123T>A (p.Tyr375Asn) c.*857T>A (n.*857T>A) c.850T>A (p.Tyr284Asn) | |
5 | g.151822925G>A | CA447226661 | GLRA1 | c.1098C>T (p.Ala366=) c.1122C>T (p.Ala374=) c.*856C>T (n.*856C>T) c.849C>T (p.Ala283=) | dbSNP |
5 | g.151822925G>C | CA447226662 | GLRA1 | c.1098C>G (p.Ala366=) c.1122C>G (p.Ala374=) c.*856C>G (n.*856C>G) c.849C>G (p.Ala283=) | |
5 | g.151822925G= | CA1591565295 | GLRA1 | c.1098C= (p.Ala366=) c.1122C= (p.Ala374=) c.*856C= (n.*856C=) c.849C= (p.Ala283=) | |
5 | g.151822925G>T | CA447226663 | GLRA1 | c.1098C>A (p.Ala366=) c.1122C>A (p.Ala374=) c.*856C>A (n.*856C>A) c.849C>A (p.Ala283=) | |
5 | g.151822926G>A | CA361850308 | GLRA1 | c.1097C>T (p.Ala366Val) c.1121C>T (p.Ala374Val) c.*855C>T (n.*855C>T) c.848C>T (p.Ala283Val) | |
5 | g.151822926G>C | CA361850309 | GLRA1 | c.1097C>G (p.Ala366Gly) c.1121C>G (p.Ala374Gly) c.*855C>G (n.*855C>G) c.848C>G (p.Ala283Gly) | |
5 | g.151822926G= | CA1591565296 | GLRA1 | c.1097C= (p.Ala366=) c.1121C= (p.Ala374=) c.*855C= (n.*855C=) c.848C= (p.Ala283=) | |
5 | g.151822926G>T | CA3523509 | GLRA1 | c.1097C>A (p.Ala366Asp) c.1121C>A (p.Ala374Asp) c.*855C>A (n.*855C>A) c.848C>A (p.Ala283Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.151822927C>A | CA361850310 | GLRA1 | c.1096G>T (p.Ala366Ser) c.1120G>T (p.Ala374Ser) c.*854G>T (n.*854G>T) c.847G>T (p.Ala283Ser) | |
5 | g.151822927C>G | CA361850311 | GLRA1 | c.1096G>C (p.Ala366Pro) c.1120G>C (p.Ala374Pro) c.*854G>C (n.*854G>C) c.847G>C (p.Ala283Pro) | |
5 | g.151822927C>T | CA361850312 | GLRA1 | c.1096G>A (p.Ala366Thr) c.1120G>A (p.Ala374Thr) c.*854G>A (n.*854G>A) c.847G>A (p.Ala283Thr) | |
5 | g.151822928A>C | CA447226664 | GLRA1 | c.1095T>G (p.Ser365=) c.1119T>G (p.Ser373=) c.*853T>G (n.*853T>G) c.846T>G (p.Ser282=) | |
5 | g.151822928A>G | CA447226665 | GLRA1 | c.1095T>C (p.Ser365=) c.1119T>C (p.Ser373=) c.*853T>C (n.*853T>C) c.846T>C (p.Ser282=) | |
5 | g.151822928A>T | CA447226666 | GLRA1 | c.1095T>A (p.Ser365=) c.1119T>A (p.Ser373=) c.*853T>A (n.*853T>A) c.846T>A (p.Ser282=) | |
5 | g.151822929G>A | CA361850315 | GLRA1 | c.1094C>T (p.Ser365Phe) c.1118C>T (p.Ser373Phe) c.*852C>T (n.*852C>T) c.845C>T (p.Ser282Phe) | |
5 | g.151822929G>C | CA361850314 | GLRA1 | c.1094C>G (p.Ser365Cys) c.1118C>G (p.Ser373Cys) c.*852C>G (n.*852C>G) c.845C>G (p.Ser282Cys) | |
5 | g.151822929G>T | CA361850313 | GLRA1 | c.1094C>A (p.Ser365Tyr) c.1118C>A (p.Ser373Tyr) c.*852C>A (n.*852C>A) c.845C>A (p.Ser282Tyr) | |
5 | g.151822930A= | CA1591565297 | GLRA1 | c.1093T= (p.Ser365=) c.1117T= (p.Ser373=) c.*851T= (n.*851T=) c.844T= (p.Ser282=) | |
5 | g.151822930A>C | CA3523510 | GLRA1 | c.1093T>G (p.Ser365Ala) c.1117T>G (p.Ser373Ala) c.*851T>G (n.*851T>G) c.844T>G (p.Ser282Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.151822930A>G | CA361850316 | GLRA1 | c.1093T>C (p.Ser365Pro) c.1117T>C (p.Ser373Pro) c.*851T>C (n.*851T>C) c.844T>C (p.Ser282Pro) | |
5 | g.151822930A>T | CA361850317 | GLRA1 | c.1093T>A (p.Ser365Thr) c.1117T>A (p.Ser373Thr) c.*851T>A (n.*851T>A) c.844T>A (p.Ser282Thr) | |
5 | g.151822931G>A | CA447226667 | GLRA1 | c.1092C>T (p.Phe364=) c.1116C>T (p.Phe372=) c.*850C>T (n.*850C>T) c.843C>T (p.Phe281=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822931G>C | CA361850318 | GLRA1 | c.1092C>G (p.Phe364Leu) c.1116C>G (p.Phe372Leu) c.*850C>G (n.*850C>G) c.843C>G (p.Phe281Leu) | |
5 | g.151822931G= | CA1591565298 | GLRA1 | c.1092C= (p.Phe364=) c.1116C= (p.Phe372=) c.*850C= (n.*850C=) c.843C= (p.Phe281=) | |
5 | g.151822931G>T | CA361850319 | GLRA1 | c.1092C>A (p.Phe364Leu) c.1116C>A (p.Phe372Leu) c.*850C>A (n.*850C>A) c.843C>A (p.Phe281Leu) | |
5 | g.151822932A= | CA1591565299 | GLRA1 | c.1091T= (p.Phe364=) c.1115T= (p.Phe372=) c.*849T= (n.*849T=) c.842T= (p.Phe281=) | |
5 | g.151822932A>C | CA361850320 | GLRA1 | c.1091T>G (p.Phe364Cys) c.1115T>G (p.Phe372Cys) c.*849T>G (n.*849T>G) c.842T>G (p.Phe281Cys) | |
5 | g.151822932A>G | CA361850321 | GLRA1 | c.1091T>C (p.Phe364Ser) c.1115T>C (p.Phe372Ser) c.*849T>C (n.*849T>C) c.842T>C (p.Phe281Ser) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.151822932A>T | CA361850322 | GLRA1 | c.1091T>A (p.Phe364Tyr) c.1115T>A (p.Phe372Tyr) c.*849T>A (n.*849T>A) c.842T>A (p.Phe281Tyr) | |
5 | g.151822933A>C | CA361850323 | GLRA1 | c.1090T>G (p.Phe364Val) c.1114T>G (p.Phe372Val) c.*848T>G (n.*848T>G) c.841T>G (p.Phe281Val) | |
5 | g.151822933A>G | CA361850324 | GLRA1 | c.1090T>C (p.Phe364Leu) c.1114T>C (p.Phe372Leu) c.*848T>C (n.*848T>C) c.841T>C (p.Phe281Leu) | |
5 | g.151822933A>T | CA361850325 | GLRA1 | c.1090T>A (p.Phe364Ile) c.1114T>A (p.Phe372Ile) c.*848T>A (n.*848T>A) c.841T>A (p.Phe281Ile) |