WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162149210_162149213del | CA2695205686 | GABRG2 | c.1026_1029del c.1145_1148del (p.Cys382SerfsTer?) c.1108_1111del n.279_282del c.740_743del (p.Cys247SerfsTer?) c.1025_1028del (p.Cys342SerfsTer?) c.902_905del c.416_419del (p.Cys139SerfsTer?) c.953_956del (p.Cys318SerfsTer?) c.*225_*228del (n.*225_*228del) c.959_962del (p.Cys320SerfsTer?) n.323_326del n.3556_3559del c.463_466del c.938_941del (p.Cys313SerfsTer?) c.*627_*630del (n.*627_*630del) c.1146_1149del (n.1146_1149del) c.1016_1019del (p.Cys339SerfsTer?) c.923-2520_923-2517del (n.923-2520_923-2517del) c.1022_1025del (p.Cys341SerfsTer?) c.1064_1067del (p.Cys355SerfsTer?) c.605_608del (p.Cys202SerfsTer?) | |
| 5 | g.162149209_162149210delinsTG | CA1596380266 | GABRG2 | c.1025_1026delinsTG c.1144_1145delinsTG (p.Cys382=) c.1107_1108delinsTG n.278_279delinsTG c.739_740delinsTG (p.Cys247=) c.1024_1025delinsTG (p.Cys342=) c.901_902delinsTG c.415_416delinsTG (p.Cys139=) c.952_953delinsTG (p.Cys318=) c.*224_*225delinsTG (n.*224_*225delinsTG) c.958_959delinsTG (p.Cys320=) n.322_323delinsTG n.3555_3556delinsTG c.462_463delinsTG c.937_938delinsTG (p.Cys313=) c.*626_*627delinsTG (n.*626_*627delinsTG) c.1145_1146delinsTG (n.1145_1146delinsTG) c.1015_1016delinsTG (p.Cys339=) c.923-2521_923-2520delinsTG (n.923-2521_923-2520delinsTG) c.1021_1022delinsTG (p.Cys341=) c.1063_1064delinsTG (p.Cys355=) c.604_605delinsTG (p.Cys202=) | |
| 5 | g.162149210del | CA16611898 | GABRG2 | c.1026del c.1145del (p.Cys382PhefsTer?) c.1108del n.279del c.740del (p.Cys247PhefsTer?) c.1025del (p.Cys342PhefsTer?) c.902del c.416del (p.Cys139PhefsTer?) c.953del (p.Cys318PhefsTer?) c.*225del (n.*225del) c.959del (p.Cys320PhefsTer?) n.323del n.3556del c.463del c.938del (p.Cys313PhefsTer?) c.*627del (n.*627del) c.1146del (n.1146del) c.1016del (p.Cys339PhefsTer?) c.923-2520del (n.923-2520del) c.1022del (p.Cys341PhefsTer?) c.1064del (p.Cys355PhefsTer?) c.605del (p.Cys202PhefsTer?) | ClinVar dbSNP |
| 5 | g.162149210G>A | CA362182510 | GABRG2 | c.1026G>A c.1145G>A (p.Cys382Tyr) c.1108G>A n.279G>A c.740G>A (p.Cys247Tyr) c.1025G>A (p.Cys342Tyr) c.902G>A c.416G>A (p.Cys139Tyr) c.953G>A (p.Cys318Tyr) c.*225G>A (n.*225G>A) c.959G>A (p.Cys320Tyr) n.323G>A n.3556G>A c.463G>A c.938G>A (p.Cys313Tyr) c.*627G>A (n.*627G>A) c.1146G>A (n.1146G>A) c.1016G>A (p.Cys339Tyr) c.923-2520G>A (n.923-2520G>A) c.1022G>A (p.Cys341Tyr) c.1064G>A (p.Cys355Tyr) c.605G>A (p.Cys202Tyr) | ClinVar dbSNP |
| 5 | g.162149210G>C | CA362182511 | GABRG2 | c.1026G>C c.1145G>C (p.Cys382Ser) c.1108G>C n.279G>C c.740G>C (p.Cys247Ser) c.1025G>C (p.Cys342Ser) c.902G>C c.416G>C (p.Cys139Ser) c.953G>C (p.Cys318Ser) c.*225G>C (n.*225G>C) c.959G>C (p.Cys320Ser) n.323G>C n.3556G>C c.463G>C c.938G>C (p.Cys313Ser) c.*627G>C (n.*627G>C) c.1146G>C (n.1146G>C) c.1016G>C (p.Cys339Ser) c.923-2520G>C (n.923-2520G>C) c.1022G>C (p.Cys341Ser) c.1064G>C (p.Cys355Ser) c.605G>C (p.Cys202Ser) | |
| 5 | g.162149210G>T | CA362182512 | GABRG2 | c.1026G>T c.1145G>T (p.Cys382Phe) c.1108G>T n.279G>T c.740G>T (p.Cys247Phe) c.1025G>T (p.Cys342Phe) c.902G>T c.416G>T (p.Cys139Phe) c.953G>T (p.Cys318Phe) c.*225G>T (n.*225G>T) c.959G>T (p.Cys320Phe) n.323G>T n.3556G>T c.463G>T c.938G>T (p.Cys313Phe) c.*627G>T (n.*627G>T) c.1146G>T (n.1146G>T) c.1016G>T (p.Cys339Phe) c.923-2520G>T (n.923-2520G>T) c.1022G>T (p.Cys341Phe) c.1064G>T (p.Cys355Phe) c.605G>T (p.Cys202Phe) | |
| 5 | g.162149211T>A | CA362182513 | GABRG2 | c.1027T>A c.1146T>A (p.Cys382Ter) c.1109T>A n.280T>A c.741T>A (p.Cys247Ter) c.1026T>A (p.Cys342Ter) c.903T>A c.417T>A (p.Cys139Ter) c.954T>A (p.Cys318Ter) c.*226T>A (n.*226T>A) c.960T>A (p.Cys320Ter) n.324T>A n.3557T>A c.464T>A c.939T>A (p.Cys313Ter) c.*628T>A (n.*628T>A) c.1147T>A (n.1147T>A) c.1017T>A (p.Cys339Ter) c.923-2519T>A (n.923-2519T>A) c.1023T>A (p.Cys341Ter) c.1065T>A (p.Cys355Ter) c.606T>A (p.Cys202Ter) | |
| 5 | g.162149211T>C | CA447610291 | GABRG2 | c.1027T>C c.1146T>C (p.Cys382=) c.1109T>C n.280T>C c.741T>C (p.Cys247=) c.1026T>C (p.Cys342=) c.903T>C c.417T>C (p.Cys139=) c.954T>C (p.Cys318=) c.*226T>C (n.*226T>C) c.960T>C (p.Cys320=) n.324T>C n.3557T>C c.464T>C c.939T>C (p.Cys313=) c.*628T>C (n.*628T>C) c.1147T>C (n.1147T>C) c.1017T>C (p.Cys339=) c.923-2519T>C (n.923-2519T>C) c.1023T>C (p.Cys341=) c.1065T>C (p.Cys355=) c.606T>C (p.Cys202=) | gnomAD v4 |
| 5 | g.162149211T>G | CA362182514 | GABRG2 | c.1027T>G c.1146T>G (p.Cys382Trp) c.1109T>G n.280T>G c.741T>G (p.Cys247Trp) c.1026T>G (p.Cys342Trp) c.903T>G c.417T>G (p.Cys139Trp) c.954T>G (p.Cys318Trp) c.*226T>G (n.*226T>G) c.960T>G (p.Cys320Trp) n.324T>G n.3557T>G c.464T>G c.939T>G (p.Cys313Trp) c.*628T>G (n.*628T>G) c.1147T>G (n.1147T>G) c.1017T>G (p.Cys339Trp) c.923-2519T>G (n.923-2519T>G) c.1023T>G (p.Cys341Trp) c.1065T>G (p.Cys355Trp) c.606T>G (p.Cys202Trp) | |
| 5 | g.162149212T>A | CA362182515 | GABRG2 | c.1028T>A c.1147T>A (p.Phe383Ile) c.1110T>A n.281T>A c.742T>A (p.Phe248Ile) c.1027T>A (p.Phe343Ile) c.904T>A c.418T>A (p.Phe140Ile) c.955T>A (p.Phe319Ile) c.*227T>A (n.*227T>A) c.961T>A (p.Phe321Ile) n.325T>A n.3558T>A c.465T>A c.940T>A (p.Phe314Ile) c.*629T>A (n.*629T>A) c.1148T>A (n.1148T>A) c.1018T>A (p.Phe340Ile) c.923-2518T>A (n.923-2518T>A) c.1024T>A (p.Phe342Ile) c.1066T>A (p.Phe356Ile) c.607T>A (p.Phe203Ile) | |
| 5 | g.162149212T>C | CA362182517 | GABRG2 | c.1028T>C c.1147T>C (p.Phe383Leu) c.1110T>C n.281T>C c.742T>C (p.Phe248Leu) c.1027T>C (p.Phe343Leu) c.904T>C c.418T>C (p.Phe140Leu) c.955T>C (p.Phe319Leu) c.*227T>C (n.*227T>C) c.961T>C (p.Phe321Leu) n.325T>C n.3558T>C c.465T>C c.940T>C (p.Phe314Leu) c.*629T>C (n.*629T>C) c.1148T>C (n.1148T>C) c.1018T>C (p.Phe340Leu) c.923-2518T>C (n.923-2518T>C) c.1024T>C (p.Phe342Leu) c.1066T>C (p.Phe356Leu) c.607T>C (p.Phe203Leu) | ClinVar dbSNP |
| 5 | g.162149212T>G | CA362182516 | GABRG2 | c.1028T>G c.1147T>G (p.Phe383Val) c.1110T>G n.281T>G c.742T>G (p.Phe248Val) c.1027T>G (p.Phe343Val) c.904T>G c.418T>G (p.Phe140Val) c.955T>G (p.Phe319Val) c.*227T>G (n.*227T>G) c.961T>G (p.Phe321Val) n.325T>G n.3558T>G c.465T>G c.940T>G (p.Phe314Val) c.*629T>G (n.*629T>G) c.1148T>G (n.1148T>G) c.1018T>G (p.Phe340Val) c.923-2518T>G (n.923-2518T>G) c.1024T>G (p.Phe342Val) c.1066T>G (p.Phe356Val) c.607T>G (p.Phe203Val) | |
| 5 | g.162149212T= | CA1596380267 | GABRG2 | c.1028T= c.1147T= (p.Phe383=) c.1110T= n.281T= c.742T= (p.Phe248=) c.1027T= (p.Phe343=) c.904T= c.418T= (p.Phe140=) c.955T= (p.Phe319=) c.*227T= (n.*227T=) c.961T= (p.Phe321=) n.325T= n.3558T= c.465T= c.940T= (p.Phe314=) c.*629T= (n.*629T=) c.1148T= (n.1148T=) c.1018T= (p.Phe340=) c.923-2518T= (n.923-2518T=) c.1024T= (p.Phe342=) c.1066T= (p.Phe356=) c.607T= (p.Phe203=) | |
| 5 | g.162149213T>A | CA362182518 | GABRG2 | c.1029T>A c.1148T>A (p.Phe383Tyr) c.1111T>A n.282T>A c.743T>A (p.Phe248Tyr) c.1028T>A (p.Phe343Tyr) c.905T>A c.419T>A (p.Phe140Tyr) c.956T>A (p.Phe319Tyr) c.*228T>A (n.*228T>A) c.962T>A (p.Phe321Tyr) n.326T>A n.3559T>A c.466T>A c.941T>A (p.Phe314Tyr) c.*630T>A (n.*630T>A) c.1149T>A (n.1149T>A) c.1019T>A (p.Phe340Tyr) c.923-2517T>A (n.923-2517T>A) c.1025T>A (p.Phe342Tyr) c.1067T>A (p.Phe356Tyr) c.608T>A (p.Phe203Tyr) | |
| 5 | g.162149213T>C | CA362182519 | GABRG2 | c.1029T>C c.1148T>C (p.Phe383Ser) c.1111T>C n.282T>C c.743T>C (p.Phe248Ser) c.1028T>C (p.Phe343Ser) c.905T>C c.419T>C (p.Phe140Ser) c.956T>C (p.Phe319Ser) c.*228T>C (n.*228T>C) c.962T>C (p.Phe321Ser) n.326T>C n.3559T>C c.466T>C c.941T>C (p.Phe314Ser) c.*630T>C (n.*630T>C) c.1149T>C (n.1149T>C) c.1019T>C (p.Phe340Ser) c.923-2517T>C (n.923-2517T>C) c.1025T>C (p.Phe342Ser) c.1067T>C (p.Phe356Ser) c.608T>C (p.Phe203Ser) | |
| 5 | g.162149213T>G | CA362182520 | GABRG2 | c.1029T>G c.1148T>G (p.Phe383Cys) c.1111T>G n.282T>G c.743T>G (p.Phe248Cys) c.1028T>G (p.Phe343Cys) c.905T>G c.419T>G (p.Phe140Cys) c.956T>G (p.Phe319Cys) c.*228T>G (n.*228T>G) c.962T>G (p.Phe321Cys) n.326T>G n.3559T>G c.466T>G c.941T>G (p.Phe314Cys) c.*630T>G (n.*630T>G) c.1149T>G (n.1149T>G) c.1019T>G (p.Phe340Cys) c.923-2517T>G (n.923-2517T>G) c.1025T>G (p.Phe342Cys) c.1067T>G (p.Phe356Cys) c.608T>G (p.Phe203Cys) | |
| 5 | g.162149214C>A | CA362182521 | GABRG2 | c.1030C>A c.1149C>A (p.Phe383Leu) c.1112C>A n.283C>A c.744C>A (p.Phe248Leu) c.1029C>A (p.Phe343Leu) c.906C>A c.420C>A (p.Phe140Leu) c.957C>A (p.Phe319Leu) c.*229C>A (n.*229C>A) c.963C>A (p.Phe321Leu) n.327C>A n.3560C>A c.467C>A c.942C>A (p.Phe314Leu) c.*631C>A (n.*631C>A) c.1150C>A (n.1150C>A) c.1020C>A (p.Phe340Leu) c.923-2516C>A (n.923-2516C>A) c.1026C>A (p.Phe342Leu) c.1068C>A (p.Phe356Leu) c.609C>A (p.Phe203Leu) | ClinVar dbSNP |
| 5 | g.162149214C= | CA1596380268 | GABRG2 | c.1030C= c.1149C= (p.Phe383=) c.1112C= n.283C= c.744C= (p.Phe248=) c.1029C= (p.Phe343=) c.906C= c.420C= (p.Phe140=) c.957C= (p.Phe319=) c.*229C= (n.*229C=) c.963C= (p.Phe321=) n.327C= n.3560C= c.467C= c.942C= (p.Phe314=) c.*631C= (n.*631C=) c.1150C= (n.1150C=) c.1020C= (p.Phe340=) c.923-2516C= (n.923-2516C=) c.1026C= (p.Phe342=) c.1068C= (p.Phe356=) c.609C= (p.Phe203=) | |
| 5 | g.162149214C>G | CA314738 | GABRG2 | c.1030C>G c.1149C>G (p.Phe383Leu) c.1112C>G n.283C>G c.744C>G (p.Phe248Leu) c.1029C>G (p.Phe343Leu) c.906C>G c.420C>G (p.Phe140Leu) c.957C>G (p.Phe319Leu) c.*229C>G (n.*229C>G) c.963C>G (p.Phe321Leu) n.327C>G n.3560C>G c.467C>G c.942C>G (p.Phe314Leu) c.*631C>G (n.*631C>G) c.1150C>G (n.1150C>G) c.1020C>G (p.Phe340Leu) c.923-2516C>G (n.923-2516C>G) c.1026C>G (p.Phe342Leu) c.1068C>G (p.Phe356Leu) c.609C>G (p.Phe203Leu) | ClinVar dbSNP |
| 5 | g.162149214C>T | CA447610293 | GABRG2 | c.1030C>T c.1149C>T (p.Phe383=) c.1112C>T n.283C>T c.744C>T (p.Phe248=) c.1029C>T (p.Phe343=) c.906C>T c.420C>T (p.Phe140=) c.957C>T (p.Phe319=) c.*229C>T (n.*229C>T) c.963C>T (p.Phe321=) n.327C>T n.3560C>T c.467C>T c.942C>T (p.Phe314=) c.*631C>T (n.*631C>T) c.1150C>T (n.1150C>T) c.1020C>T (p.Phe340=) c.923-2516C>T (n.923-2516C>T) c.1026C>T (p.Phe342=) c.1068C>T (p.Phe356=) c.609C>T (p.Phe203=) | |
| 5 | g.162149215A>C | CA362182522 | GABRG2 | c.1031A>C c.1150A>C (p.Ile384Leu) c.1113A>C n.284A>C c.745A>C (p.Ile249Leu) c.1030A>C (p.Ile344Leu) c.907A>C c.421A>C (p.Ile141Leu) c.958A>C (p.Ile320Leu) c.*230A>C (n.*230A>C) c.964A>C (p.Ile322Leu) n.328A>C n.3561A>C c.468A>C c.943A>C (p.Ile315Leu) c.*632A>C (n.*632A>C) c.1151A>C (n.1151A>C) c.1021A>C (p.Ile341Leu) c.923-2515A>C (n.923-2515A>C) c.1027A>C (p.Ile343Leu) c.1069A>C (p.Ile357Leu) c.610A>C (p.Ile204Leu) | |
| 5 | g.162149215A>G | CA362182523 | GABRG2 | c.1031A>G c.1150A>G (p.Ile384Val) c.1113A>G n.284A>G c.745A>G (p.Ile249Val) c.1030A>G (p.Ile344Val) c.907A>G c.421A>G (p.Ile141Val) c.958A>G (p.Ile320Val) c.*230A>G (n.*230A>G) c.964A>G (p.Ile322Val) n.328A>G n.3561A>G c.468A>G c.943A>G (p.Ile315Val) c.*632A>G (n.*632A>G) c.1151A>G (n.1151A>G) c.1021A>G (p.Ile341Val) c.923-2515A>G (n.923-2515A>G) c.1027A>G (p.Ile343Val) c.1069A>G (p.Ile357Val) c.610A>G (p.Ile204Val) | |
| 5 | g.162149215A>T | CA362182524 | GABRG2 | c.1031A>T c.1150A>T (p.Ile384Phe) c.1113A>T n.284A>T c.745A>T (p.Ile249Phe) c.1030A>T (p.Ile344Phe) c.907A>T c.421A>T (p.Ile141Phe) c.958A>T (p.Ile320Phe) c.*230A>T (n.*230A>T) c.964A>T (p.Ile322Phe) n.328A>T n.3561A>T c.468A>T c.943A>T (p.Ile315Phe) c.*632A>T (n.*632A>T) c.1151A>T (n.1151A>T) c.1021A>T (p.Ile341Phe) c.923-2515A>T (n.923-2515A>T) c.1027A>T (p.Ile343Phe) c.1069A>T (p.Ile357Phe) c.610A>T (p.Ile204Phe) | |
| 5 | g.162149216T>A | CA362182525 | GABRG2 | c.1032T>A c.1151T>A (p.Ile384Asn) c.1114T>A n.285T>A c.746T>A (p.Ile249Asn) c.1031T>A (p.Ile344Asn) c.908T>A c.422T>A (p.Ile141Asn) c.959T>A (p.Ile320Asn) c.*231T>A (n.*231T>A) c.965T>A (p.Ile322Asn) n.329T>A n.3562T>A c.469T>A c.944T>A (p.Ile315Asn) c.*633T>A (n.*633T>A) c.1152T>A (n.1152T>A) c.1022T>A (p.Ile341Asn) c.923-2514T>A (n.923-2514T>A) c.1028T>A (p.Ile343Asn) c.1070T>A (p.Ile357Asn) c.611T>A (p.Ile204Asn) | |
| 5 | g.162149216T>C | CA362182526 | GABRG2 | c.1032T>C c.1151T>C (p.Ile384Thr) c.1114T>C n.285T>C c.746T>C (p.Ile249Thr) c.1031T>C (p.Ile344Thr) c.908T>C c.422T>C (p.Ile141Thr) c.959T>C (p.Ile320Thr) c.*231T>C (n.*231T>C) c.965T>C (p.Ile322Thr) n.329T>C n.3562T>C c.469T>C c.944T>C (p.Ile315Thr) c.*633T>C (n.*633T>C) c.1152T>C (n.1152T>C) c.1022T>C (p.Ile341Thr) c.923-2514T>C (n.923-2514T>C) c.1028T>C (p.Ile343Thr) c.1070T>C (p.Ile357Thr) c.611T>C (p.Ile204Thr) | |
| 5 | g.162149216T>G | CA362182527 | GABRG2 | c.1032T>G c.1151T>G (p.Ile384Ser) c.1114T>G n.285T>G c.746T>G (p.Ile249Ser) c.1031T>G (p.Ile344Ser) c.908T>G c.422T>G (p.Ile141Ser) c.959T>G (p.Ile320Ser) c.*231T>G (n.*231T>G) c.965T>G (p.Ile322Ser) n.329T>G n.3562T>G c.469T>G c.944T>G (p.Ile315Ser) c.*633T>G (n.*633T>G) c.1152T>G (n.1152T>G) c.1022T>G (p.Ile341Ser) c.923-2514T>G (n.923-2514T>G) c.1028T>G (p.Ile343Ser) c.1070T>G (p.Ile357Ser) c.611T>G (p.Ile204Ser) | |
| 5 | g.162149217C>A | CA447610294 | GABRG2 | c.1033C>A c.1152C>A (p.Ile384=) c.1115C>A n.286C>A c.747C>A (p.Ile249=) c.1032C>A (p.Ile344=) c.909C>A c.423C>A (p.Ile141=) c.960C>A (p.Ile320=) c.*232C>A (n.*232C>A) c.966C>A (p.Ile322=) n.330C>A n.3563C>A c.470C>A c.945C>A (p.Ile315=) c.*634C>A (n.*634C>A) c.1153C>A (n.1153C>A) c.1023C>A (p.Ile341=) c.923-2513C>A (n.923-2513C>A) c.1029C>A (p.Ile343=) c.1071C>A (p.Ile357=) c.612C>A (p.Ile204=) | |
| 5 | g.162149217C>G | CA362182528 | GABRG2 | c.1033C>G c.1152C>G (p.Ile384Met) c.1115C>G n.286C>G c.747C>G (p.Ile249Met) c.1032C>G (p.Ile344Met) c.909C>G c.423C>G (p.Ile141Met) c.960C>G (p.Ile320Met) c.*232C>G (n.*232C>G) c.966C>G (p.Ile322Met) n.330C>G n.3563C>G c.470C>G c.945C>G (p.Ile315Met) c.*634C>G (n.*634C>G) c.1153C>G (n.1153C>G) c.1023C>G (p.Ile341Met) c.923-2513C>G (n.923-2513C>G) c.1029C>G (p.Ile343Met) c.1071C>G (p.Ile357Met) c.612C>G (p.Ile204Met) | COSMIC |
| 5 | g.162149217C>T | CA447610295 | GABRG2 | c.1033C>T c.1152C>T (p.Ile384=) c.1115C>T n.286C>T c.747C>T (p.Ile249=) c.1032C>T (p.Ile344=) c.909C>T c.423C>T (p.Ile141=) c.960C>T (p.Ile320=) c.*232C>T (n.*232C>T) c.966C>T (p.Ile322=) n.330C>T n.3563C>T c.470C>T c.945C>T (p.Ile315=) c.*634C>T (n.*634C>T) c.1153C>T (n.1153C>T) c.1023C>T (p.Ile341=) c.923-2513C>T (n.923-2513C>T) c.1029C>T (p.Ile343=) c.1071C>T (p.Ile357=) c.612C>T (p.Ile204=) | |
| 5 | g.162149217_162149218delinsCT | CA1596380269 | GABRG2 | c.1033_1034delinsCT c.1152_1153delinsCT (p.Ile384=) c.1115_1116delinsCT n.286_287delinsCT c.747_748delinsCT (p.Ile249=) c.1032_1033delinsCT (p.Ile344=) c.909_910delinsCT c.423_424delinsCT (p.Ile141=) c.960_961delinsCT (p.Ile320=) c.*232_*233delinsCT (n.*232_*233delinsCT) c.966_967delinsCT (p.Ile322=) n.330_331delinsCT n.3563_3564delinsCT c.470_471delinsCT c.945_946delinsCT (p.Ile315=) c.*634_*635delinsCT (n.*634_*635delinsCT) c.1153_1154delinsCT (n.1153_1154delinsCT) c.1023_1024delinsCT (p.Ile341=) c.923-2513_923-2512delinsCT (n.923-2513_923-2512delinsCT) c.1029_1030delinsCT (p.Ile343=) c.1071_1072delinsCT (p.Ile357=) c.612_613delinsCT (p.Ile204=) | |
| 5 | g.162149218T>A | CA362182531 | GABRG2 | c.1034T>A c.1153T>A (p.Phe385Ile) c.1116T>A n.287T>A c.748T>A (p.Phe250Ile) c.1033T>A (p.Phe345Ile) c.910T>A c.424T>A (p.Phe142Ile) c.961T>A (p.Phe321Ile) c.*233T>A (n.*233T>A) c.967T>A (p.Phe323Ile) n.331T>A n.3564T>A c.471T>A c.946T>A (p.Phe316Ile) c.*635T>A (n.*635T>A) c.1154T>A (n.1154T>A) c.1024T>A (p.Phe342Ile) c.923-2512T>A (n.923-2512T>A) c.1030T>A (p.Phe344Ile) c.1072T>A (p.Phe358Ile) c.613T>A (p.Phe205Ile) | |
| 5 | g.162149218T>C | CA362182529 | GABRG2 | c.1034T>C c.1153T>C (p.Phe385Leu) c.1116T>C n.287T>C c.748T>C (p.Phe250Leu) c.1033T>C (p.Phe345Leu) c.910T>C c.424T>C (p.Phe142Leu) c.961T>C (p.Phe321Leu) c.*233T>C (n.*233T>C) c.967T>C (p.Phe323Leu) n.331T>C n.3564T>C c.471T>C c.946T>C (p.Phe316Leu) c.*635T>C (n.*635T>C) c.1154T>C (n.1154T>C) c.1024T>C (p.Phe342Leu) c.923-2512T>C (n.923-2512T>C) c.1030T>C (p.Phe344Leu) c.1072T>C (p.Phe358Leu) c.613T>C (p.Phe205Leu) | |
| 5 | g.162149218T>G | CA362182530 | GABRG2 | c.1034T>G c.1153T>G (p.Phe385Val) c.1116T>G n.287T>G c.748T>G (p.Phe250Val) c.1033T>G (p.Phe345Val) c.910T>G c.424T>G (p.Phe142Val) c.961T>G (p.Phe321Val) c.*233T>G (n.*233T>G) c.967T>G (p.Phe323Val) n.331T>G n.3564T>G c.471T>G c.946T>G (p.Phe316Val) c.*635T>G (n.*635T>G) c.1154T>G (n.1154T>G) c.1024T>G (p.Phe342Val) c.923-2512T>G (n.923-2512T>G) c.1030T>G (p.Phe344Val) c.1072T>G (p.Phe358Val) c.613T>G (p.Phe205Val) | |
| 5 | g.162149220dup | CA2676329345 | GABRG2 | c.1036dup c.1155dup (p.Val386CysfsTer26) c.1118dup n.289dup c.750dup (p.Val251CysfsTer26) c.1035dup (p.Val346CysfsTer26) c.912dup c.426dup (p.Val143CysfsTer26) c.963dup (p.Val322CysfsTer26) c.*235dup (n.*235dup) c.969dup (p.Val324CysfsTer26) n.333dup n.3566dup c.473dup c.948dup (p.Val317CysfsTer26) c.*637dup (n.*637dup) c.1156dup (n.1156dup) c.1026dup (p.Val343CysfsTer26) c.923-2510dup (n.923-2510dup) c.1032dup (p.Val345CysfsTer26) c.1074dup (p.Val359CysfsTer26) c.615dup (p.Val206CysfsTer26) | gnomAD v4 |
| 5 | g.162149220del | CA915942711 | GABRG2 | c.1036del c.1155del (p.Phe385LeufsTer?) c.1118del n.289del c.750del (p.Phe250LeufsTer?) c.1035del (p.Phe345LeufsTer?) c.912del c.426del (p.Phe142LeufsTer?) c.963del (p.Phe321LeufsTer?) c.*235del (n.*235del) c.969del (p.Phe323LeufsTer?) n.333del n.3566del c.473del c.948del (p.Phe316LeufsTer?) c.*637del (n.*637del) c.1156del (n.1156del) c.1026del (p.Phe342LeufsTer?) c.923-2510del (n.923-2510del) c.1032del (p.Phe344LeufsTer?) c.1074del (p.Phe358LeufsTer?) c.615del (p.Phe205LeufsTer?) | ClinVar dbSNP |
| 5 | g.162149219T>A | CA362182532 | GABRG2 | c.1035T>A c.1154T>A (p.Phe385Tyr) c.1117T>A n.288T>A c.749T>A (p.Phe250Tyr) c.1034T>A (p.Phe345Tyr) c.911T>A c.425T>A (p.Phe142Tyr) c.962T>A (p.Phe321Tyr) c.*234T>A (n.*234T>A) c.968T>A (p.Phe323Tyr) n.332T>A n.3565T>A c.472T>A c.947T>A (p.Phe316Tyr) c.*636T>A (n.*636T>A) c.1155T>A (n.1155T>A) c.1025T>A (p.Phe342Tyr) c.923-2511T>A (n.923-2511T>A) c.1031T>A (p.Phe344Tyr) c.1073T>A (p.Phe358Tyr) c.614T>A (p.Phe205Tyr) | |
| 5 | g.162149219T>C | CA362182533 | GABRG2 | c.1035T>C c.1154T>C (p.Phe385Ser) c.1117T>C n.288T>C c.749T>C (p.Phe250Ser) c.1034T>C (p.Phe345Ser) c.911T>C c.425T>C (p.Phe142Ser) c.962T>C (p.Phe321Ser) c.*234T>C (n.*234T>C) c.968T>C (p.Phe323Ser) n.332T>C n.3565T>C c.472T>C c.947T>C (p.Phe316Ser) c.*636T>C (n.*636T>C) c.1155T>C (n.1155T>C) c.1025T>C (p.Phe342Ser) c.923-2511T>C (n.923-2511T>C) c.1031T>C (p.Phe344Ser) c.1073T>C (p.Phe358Ser) c.614T>C (p.Phe205Ser) | |
| 5 | g.162149219T>G | CA362182534 | GABRG2 | c.1035T>G c.1154T>G (p.Phe385Cys) c.1117T>G n.288T>G c.749T>G (p.Phe250Cys) c.1034T>G (p.Phe345Cys) c.911T>G c.425T>G (p.Phe142Cys) c.962T>G (p.Phe321Cys) c.*234T>G (n.*234T>G) c.968T>G (p.Phe323Cys) n.332T>G n.3565T>G c.472T>G c.947T>G (p.Phe316Cys) c.*636T>G (n.*636T>G) c.1155T>G (n.1155T>G) c.1025T>G (p.Phe342Cys) c.923-2511T>G (n.923-2511T>G) c.1031T>G (p.Phe344Cys) c.1073T>G (p.Phe358Cys) c.614T>G (p.Phe205Cys) | |
| 5 | g.162149220T>A | CA362182535 | GABRG2 | c.1036T>A c.1155T>A (p.Phe385Leu) c.1118T>A n.289T>A c.750T>A (p.Phe250Leu) c.1035T>A (p.Phe345Leu) c.912T>A c.426T>A (p.Phe142Leu) c.963T>A (p.Phe321Leu) c.*235T>A (n.*235T>A) c.969T>A (p.Phe323Leu) n.333T>A n.3566T>A c.473T>A c.948T>A (p.Phe316Leu) c.*637T>A (n.*637T>A) c.1156T>A (n.1156T>A) c.1026T>A (p.Phe342Leu) c.923-2510T>A (n.923-2510T>A) c.1032T>A (p.Phe344Leu) c.1074T>A (p.Phe358Leu) c.615T>A (p.Phe205Leu) | |
| 5 | g.162149220T>C | CA447610296 | GABRG2 | c.1036T>C c.1155T>C (p.Phe385=) c.1118T>C n.289T>C c.750T>C (p.Phe250=) c.1035T>C (p.Phe345=) c.912T>C c.426T>C (p.Phe142=) c.963T>C (p.Phe321=) c.*235T>C (n.*235T>C) c.969T>C (p.Phe323=) n.333T>C n.3566T>C c.473T>C c.948T>C (p.Phe316=) c.*637T>C (n.*637T>C) c.1156T>C (n.1156T>C) c.1026T>C (p.Phe342=) c.923-2510T>C (n.923-2510T>C) c.1032T>C (p.Phe344=) c.1074T>C (p.Phe358=) c.615T>C (p.Phe205=) | |
| 5 | g.162149220T>G | CA362182536 | GABRG2 | c.1036T>G c.1155T>G (p.Phe385Leu) c.1118T>G n.289T>G c.750T>G (p.Phe250Leu) c.1035T>G (p.Phe345Leu) c.912T>G c.426T>G (p.Phe142Leu) c.963T>G (p.Phe321Leu) c.*235T>G (n.*235T>G) c.969T>G (p.Phe323Leu) n.333T>G n.3566T>G c.473T>G c.948T>G (p.Phe316Leu) c.*637T>G (n.*637T>G) c.1156T>G (n.1156T>G) c.1026T>G (p.Phe342Leu) c.923-2510T>G (n.923-2510T>G) c.1032T>G (p.Phe344Leu) c.1074T>G (p.Phe358Leu) c.615T>G (p.Phe205Leu) | |
| 5 | g.162149221G>A | CA362182537 | GABRG2 | c.1037G>A c.1156G>A (p.Val386Ile) c.1119G>A n.290G>A c.751G>A (p.Val251Ile) c.1036G>A (p.Val346Ile) c.913G>A c.427G>A (p.Val143Ile) c.964G>A (p.Val322Ile) c.*236G>A (n.*236G>A) c.970G>A (p.Val324Ile) n.334G>A n.3567G>A c.474G>A c.949G>A (p.Val317Ile) c.*638G>A (n.*638G>A) c.1157G>A (n.1157G>A) c.1027G>A (p.Val343Ile) c.923-2509G>A (n.923-2509G>A) c.1033G>A (p.Val345Ile) c.1075G>A (p.Val359Ile) c.616G>A (p.Val206Ile) | |
| 5 | g.162149221G>C | CA362182538 | GABRG2 | c.1037G>C c.1156G>C (p.Val386Leu) c.1119G>C n.290G>C c.751G>C (p.Val251Leu) c.1036G>C (p.Val346Leu) c.913G>C c.427G>C (p.Val143Leu) c.964G>C (p.Val322Leu) c.*236G>C (n.*236G>C) c.970G>C (p.Val324Leu) n.334G>C n.3567G>C c.474G>C c.949G>C (p.Val317Leu) c.*638G>C (n.*638G>C) c.1157G>C (n.1157G>C) c.1027G>C (p.Val343Leu) c.923-2509G>C (n.923-2509G>C) c.1033G>C (p.Val345Leu) c.1075G>C (p.Val359Leu) c.616G>C (p.Val206Leu) | |
| 5 | g.162149221G>T | CA362182539 | GABRG2 | c.1037G>T c.1156G>T (p.Val386Phe) c.1119G>T n.290G>T c.751G>T (p.Val251Phe) c.1036G>T (p.Val346Phe) c.913G>T c.427G>T (p.Val143Phe) c.964G>T (p.Val322Phe) c.*236G>T (n.*236G>T) c.970G>T (p.Val324Phe) n.334G>T n.3567G>T c.474G>T c.949G>T (p.Val317Phe) c.*638G>T (n.*638G>T) c.1157G>T (n.1157G>T) c.1027G>T (p.Val343Phe) c.923-2509G>T (n.923-2509G>T) c.1033G>T (p.Val345Phe) c.1075G>T (p.Val359Phe) c.616G>T (p.Val206Phe) | ClinVar |
| 5 | g.162149222T>A | CA362182540 | GABRG2 | c.1038T>A c.1157T>A (p.Val386Asp) c.1120T>A n.291T>A c.752T>A (p.Val251Asp) c.1037T>A (p.Val346Asp) c.914T>A c.428T>A (p.Val143Asp) c.965T>A (p.Val322Asp) c.*237T>A (n.*237T>A) c.971T>A (p.Val324Asp) n.335T>A n.3568T>A c.475T>A c.950T>A (p.Val317Asp) c.*639T>A (n.*639T>A) c.1158T>A (n.1158T>A) c.1028T>A (p.Val343Asp) c.923-2508T>A (n.923-2508T>A) c.1034T>A (p.Val345Asp) c.1076T>A (p.Val359Asp) c.617T>A (p.Val206Asp) | |
| 5 | g.162149222T>C | CA362182541 | GABRG2 | c.1038T>C c.1157T>C (p.Val386Ala) c.1120T>C n.291T>C c.752T>C (p.Val251Ala) c.1037T>C (p.Val346Ala) c.914T>C c.428T>C (p.Val143Ala) c.965T>C (p.Val322Ala) c.*237T>C (n.*237T>C) c.971T>C (p.Val324Ala) n.335T>C n.3568T>C c.475T>C c.950T>C (p.Val317Ala) c.*639T>C (n.*639T>C) c.1158T>C (n.1158T>C) c.1028T>C (p.Val343Ala) c.923-2508T>C (n.923-2508T>C) c.1034T>C (p.Val345Ala) c.1076T>C (p.Val359Ala) c.617T>C (p.Val206Ala) | |
| 5 | g.162149222T>G | CA362182542 | GABRG2 | c.1038T>G c.1157T>G (p.Val386Gly) c.1120T>G n.291T>G c.752T>G (p.Val251Gly) c.1037T>G (p.Val346Gly) c.914T>G c.428T>G (p.Val143Gly) c.965T>G (p.Val322Gly) c.*237T>G (n.*237T>G) c.971T>G (p.Val324Gly) n.335T>G n.3568T>G c.475T>G c.950T>G (p.Val317Gly) c.*639T>G (n.*639T>G) c.1158T>G (n.1158T>G) c.1028T>G (p.Val343Gly) c.923-2508T>G (n.923-2508T>G) c.1034T>G (p.Val345Gly) c.1076T>G (p.Val359Gly) c.617T>G (p.Val206Gly) | ClinVar |
| 5 | g.162149223C>A | CA447610297 | GABRG2 | c.1039C>A c.1158C>A (p.Val386=) c.1121C>A n.292C>A c.753C>A (p.Val251=) c.1038C>A (p.Val346=) c.915C>A c.429C>A (p.Val143=) c.966C>A (p.Val322=) c.*238C>A (n.*238C>A) c.972C>A (p.Val324=) n.336C>A n.3569C>A c.476C>A c.951C>A (p.Val317=) c.*640C>A (n.*640C>A) c.1159C>A (n.1159C>A) c.1029C>A (p.Val343=) c.923-2507C>A (n.923-2507C>A) c.1035C>A (p.Val345=) c.1077C>A (p.Val359=) c.618C>A (p.Val206=) | |
| 5 | g.162149223C>G | CA447610298 | GABRG2 | c.1039C>G c.1158C>G (p.Val386=) c.1121C>G n.292C>G c.753C>G (p.Val251=) c.1038C>G (p.Val346=) c.915C>G c.429C>G (p.Val143=) c.966C>G (p.Val322=) c.*238C>G (n.*238C>G) c.972C>G (p.Val324=) n.336C>G n.3569C>G c.476C>G c.951C>G (p.Val317=) c.*640C>G (n.*640C>G) c.1159C>G (n.1159C>G) c.1029C>G (p.Val343=) c.923-2507C>G (n.923-2507C>G) c.1035C>G (p.Val345=) c.1077C>G (p.Val359=) c.618C>G (p.Val206=) | |
| 5 | g.162149223C>T | CA447610299 | GABRG2 | c.1039C>T c.1158C>T (p.Val386=) c.1121C>T n.292C>T c.753C>T (p.Val251=) c.1038C>T (p.Val346=) c.915C>T c.429C>T (p.Val143=) c.966C>T (p.Val322=) c.*238C>T (n.*238C>T) c.972C>T (p.Val324=) n.336C>T n.3569C>T c.476C>T c.951C>T (p.Val317=) c.*640C>T (n.*640C>T) c.1159C>T (n.1159C>T) c.1029C>T (p.Val343=) c.923-2507C>T (n.923-2507C>T) c.1035C>T (p.Val345=) c.1077C>T (p.Val359=) c.618C>T (p.Val206=) |