| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) | |
| 5 | g.162149224T>A | CA362182544 | GABRG2 | c.1040T>A c.1159T>A (p.Phe387Ile) c.1122T>A n.293T>A c.754T>A (p.Phe252Ile) c.1039T>A (p.Phe347Ile) c.916T>A c.430T>A (p.Phe144Ile) c.967T>A (p.Phe323Ile) c.*239T>A (n.*239T>A) c.973T>A (p.Phe325Ile) n.337T>A n.3570T>A c.477T>A c.952T>A (p.Phe318Ile) c.*641T>A (n.*641T>A) c.1160T>A (n.1160T>A) c.1030T>A (p.Phe344Ile) c.923-2506T>A (n.923-2506T>A) c.1036T>A (p.Phe346Ile) c.1078T>A (p.Phe360Ile) c.619T>A (p.Phe207Ile) | gnomAD v4 |
| 5 | g.162149224T>C | CA362182545 | GABRG2 | c.1040T>C c.1159T>C (p.Phe387Leu) c.1122T>C n.293T>C c.754T>C (p.Phe252Leu) c.1039T>C (p.Phe347Leu) c.916T>C c.430T>C (p.Phe144Leu) c.967T>C (p.Phe323Leu) c.*239T>C (n.*239T>C) c.973T>C (p.Phe325Leu) n.337T>C n.3570T>C c.477T>C c.952T>C (p.Phe318Leu) c.*641T>C (n.*641T>C) c.1160T>C (n.1160T>C) c.1030T>C (p.Phe344Leu) c.923-2506T>C (n.923-2506T>C) c.1036T>C (p.Phe346Leu) c.1078T>C (p.Phe360Leu) c.619T>C (p.Phe207Leu) | |
| 5 | g.162149224T>G | CA362182543 | GABRG2 | c.1040T>G c.1159T>G (p.Phe387Val) c.1122T>G n.293T>G c.754T>G (p.Phe252Val) c.1039T>G (p.Phe347Val) c.916T>G c.430T>G (p.Phe144Val) c.967T>G (p.Phe323Val) c.*239T>G (n.*239T>G) c.973T>G (p.Phe325Val) n.337T>G n.3570T>G c.477T>G c.952T>G (p.Phe318Val) c.*641T>G (n.*641T>G) c.1160T>G (n.1160T>G) c.1030T>G (p.Phe344Val) c.923-2506T>G (n.923-2506T>G) c.1036T>G (p.Phe346Val) c.1078T>G (p.Phe360Val) c.619T>G (p.Phe207Val) | COSMIC |
| 5 | g.162149225T>A | CA362182547 | GABRG2 | c.1041T>A c.1160T>A (p.Phe387Tyr) c.1123T>A n.294T>A c.755T>A (p.Phe252Tyr) c.1040T>A (p.Phe347Tyr) c.917T>A c.431T>A (p.Phe144Tyr) c.968T>A (p.Phe323Tyr) c.*240T>A (n.*240T>A) c.974T>A (p.Phe325Tyr) n.338T>A n.3571T>A c.478T>A c.953T>A (p.Phe318Tyr) c.*642T>A (n.*642T>A) c.1161T>A (n.1161T>A) c.1031T>A (p.Phe344Tyr) c.923-2505T>A (n.923-2505T>A) c.1037T>A (p.Phe346Tyr) c.1079T>A (p.Phe360Tyr) c.620T>A (p.Phe207Tyr) | |
| 5 | g.162149225T>C | CA362182546 | GABRG2 | c.1041T>C c.1160T>C (p.Phe387Ser) c.1123T>C n.294T>C c.755T>C (p.Phe252Ser) c.1040T>C (p.Phe347Ser) c.917T>C c.431T>C (p.Phe144Ser) c.968T>C (p.Phe323Ser) c.*240T>C (n.*240T>C) c.974T>C (p.Phe325Ser) n.338T>C n.3571T>C c.478T>C c.953T>C (p.Phe318Ser) c.*642T>C (n.*642T>C) c.1161T>C (n.1161T>C) c.1031T>C (p.Phe344Ser) c.923-2505T>C (n.923-2505T>C) c.1037T>C (p.Phe346Ser) c.1079T>C (p.Phe360Ser) c.620T>C (p.Phe207Ser) | |
| 5 | g.162149225T>G | CA362182548 | GABRG2 | c.1041T>G c.1160T>G (p.Phe387Cys) c.1123T>G n.294T>G c.755T>G (p.Phe252Cys) c.1040T>G (p.Phe347Cys) c.917T>G c.431T>G (p.Phe144Cys) c.968T>G (p.Phe323Cys) c.*240T>G (n.*240T>G) c.974T>G (p.Phe325Cys) n.338T>G n.3571T>G c.478T>G c.953T>G (p.Phe318Cys) c.*642T>G (n.*642T>G) c.1161T>G (n.1161T>G) c.1031T>G (p.Phe344Cys) c.923-2505T>G (n.923-2505T>G) c.1037T>G (p.Phe346Cys) c.1079T>G (p.Phe360Cys) c.620T>G (p.Phe207Cys) | |
| 5 | g.162149226C>A | CA362182549 | GABRG2 | c.1042C>A c.1161C>A (p.Phe387Leu) c.1124C>A n.295C>A c.756C>A (p.Phe252Leu) c.1041C>A (p.Phe347Leu) c.918C>A c.432C>A (p.Phe144Leu) c.969C>A (p.Phe323Leu) c.*241C>A (n.*241C>A) c.975C>A (p.Phe325Leu) n.339C>A n.3572C>A c.479C>A c.954C>A (p.Phe318Leu) c.*643C>A (n.*643C>A) c.1162C>A (n.1162C>A) c.1032C>A (p.Phe344Leu) c.923-2504C>A (n.923-2504C>A) c.1038C>A (p.Phe346Leu) c.1080C>A (p.Phe360Leu) c.621C>A (p.Phe207Leu) | |
| 5 | g.162149226C>G | CA362182550 | GABRG2 | c.1042C>G c.1161C>G (p.Phe387Leu) c.1124C>G n.295C>G c.756C>G (p.Phe252Leu) c.1041C>G (p.Phe347Leu) c.918C>G c.432C>G (p.Phe144Leu) c.969C>G (p.Phe323Leu) c.*241C>G (n.*241C>G) c.975C>G (p.Phe325Leu) n.339C>G n.3572C>G c.479C>G c.954C>G (p.Phe318Leu) c.*643C>G (n.*643C>G) c.1162C>G (n.1162C>G) c.1032C>G (p.Phe344Leu) c.923-2504C>G (n.923-2504C>G) c.1038C>G (p.Phe346Leu) c.1080C>G (p.Phe360Leu) c.621C>G (p.Phe207Leu) | |
| 5 | g.162149226C>T | CA447610300 | GABRG2 | c.1042C>T c.1161C>T (p.Phe387=) c.1124C>T n.295C>T c.756C>T (p.Phe252=) c.1041C>T (p.Phe347=) c.918C>T c.432C>T (p.Phe144=) c.969C>T (p.Phe323=) c.*241C>T (n.*241C>T) c.975C>T (p.Phe325=) n.339C>T n.3572C>T c.479C>T c.954C>T (p.Phe318=) c.*643C>T (n.*643C>T) c.1162C>T (n.1162C>T) c.1032C>T (p.Phe344=) c.923-2504C>T (n.923-2504C>T) c.1038C>T (p.Phe346=) c.1080C>T (p.Phe360=) c.621C>T (p.Phe207=) | COSMIC |
| 5 | g.162149227T>A | CA362182551 | GABRG2 | c.1043T>A c.1162T>A (p.Ser388Thr) c.1125T>A n.296T>A c.757T>A (p.Ser253Thr) c.1042T>A (p.Ser348Thr) c.919T>A c.433T>A (p.Ser145Thr) c.970T>A (p.Ser324Thr) c.*242T>A (n.*242T>A) c.976T>A (p.Ser326Thr) n.340T>A n.3573T>A c.480T>A c.955T>A (p.Ser319Thr) c.*644T>A (n.*644T>A) c.1163T>A (n.1163T>A) c.1033T>A (p.Ser345Thr) c.923-2503T>A (n.923-2503T>A) c.1039T>A (p.Ser347Thr) c.1081T>A (p.Ser361Thr) c.622T>A (p.Ser208Thr) | |
| 5 | g.162149227T>C | CA362182552 | GABRG2 | c.1043T>C c.1162T>C (p.Ser388Pro) c.1125T>C n.296T>C c.757T>C (p.Ser253Pro) c.1042T>C (p.Ser348Pro) c.919T>C c.433T>C (p.Ser145Pro) c.970T>C (p.Ser324Pro) c.*242T>C (n.*242T>C) c.976T>C (p.Ser326Pro) n.340T>C n.3573T>C c.480T>C c.955T>C (p.Ser319Pro) c.*644T>C (n.*644T>C) c.1163T>C (n.1163T>C) c.1033T>C (p.Ser345Pro) c.923-2503T>C (n.923-2503T>C) c.1039T>C (p.Ser347Pro) c.1081T>C (p.Ser361Pro) c.622T>C (p.Ser208Pro) | |
| 5 | g.162149227T>G | CA362182553 | GABRG2 | c.1043T>G c.1162T>G (p.Ser388Ala) c.1125T>G n.296T>G c.757T>G (p.Ser253Ala) c.1042T>G (p.Ser348Ala) c.919T>G c.433T>G (p.Ser145Ala) c.970T>G (p.Ser324Ala) c.*242T>G (n.*242T>G) c.976T>G (p.Ser326Ala) n.340T>G n.3573T>G c.480T>G c.955T>G (p.Ser319Ala) c.*644T>G (n.*644T>G) c.1163T>G (n.1163T>G) c.1033T>G (p.Ser345Ala) c.923-2503T>G (n.923-2503T>G) c.1039T>G (p.Ser347Ala) c.1081T>G (p.Ser361Ala) c.622T>G (p.Ser208Ala) | |
| 5 | g.162149228C>A | CA362182554 | GABRG2 | c.1044C>A c.1163C>A (p.Ser388Tyr) c.1126C>A n.297C>A c.758C>A (p.Ser253Tyr) c.1043C>A (p.Ser348Tyr) c.920C>A c.434C>A (p.Ser145Tyr) c.971C>A (p.Ser324Tyr) c.*243C>A (n.*243C>A) c.977C>A (p.Ser326Tyr) n.341C>A n.3574C>A c.481C>A c.956C>A (p.Ser319Tyr) c.*645C>A (n.*645C>A) c.1164C>A (n.1164C>A) c.1034C>A (p.Ser345Tyr) c.923-2502C>A (n.923-2502C>A) c.1040C>A (p.Ser347Tyr) c.1082C>A (p.Ser361Tyr) c.623C>A (p.Ser208Tyr) | |
| 5 | g.162149228C>G | CA362182555 | GABRG2 | c.1044C>G c.1163C>G (p.Ser388Cys) c.1126C>G n.297C>G c.758C>G (p.Ser253Cys) c.1043C>G (p.Ser348Cys) c.920C>G c.434C>G (p.Ser145Cys) c.971C>G (p.Ser324Cys) c.*243C>G (n.*243C>G) c.977C>G (p.Ser326Cys) n.341C>G n.3574C>G c.481C>G c.956C>G (p.Ser319Cys) c.*645C>G (n.*645C>G) c.1164C>G (n.1164C>G) c.1034C>G (p.Ser345Cys) c.923-2502C>G (n.923-2502C>G) c.1040C>G (p.Ser347Cys) c.1082C>G (p.Ser361Cys) c.623C>G (p.Ser208Cys) | COSMIC |
| 5 | g.162149228C>T | CA362182556 | GABRG2 | c.1044C>T c.1163C>T (p.Ser388Phe) c.1126C>T n.297C>T c.758C>T (p.Ser253Phe) c.1043C>T (p.Ser348Phe) c.920C>T c.434C>T (p.Ser145Phe) c.971C>T (p.Ser324Phe) c.*243C>T (n.*243C>T) c.977C>T (p.Ser326Phe) n.341C>T n.3574C>T c.481C>T c.956C>T (p.Ser319Phe) c.*645C>T (n.*645C>T) c.1164C>T (n.1164C>T) c.1034C>T (p.Ser345Phe) c.923-2502C>T (n.923-2502C>T) c.1040C>T (p.Ser347Phe) c.1082C>T (p.Ser361Phe) c.623C>T (p.Ser208Phe) | |
| 5 | g.162149229T>A | CA447610301 | GABRG2 | c.1045T>A c.1164T>A (p.Ser388=) c.1127T>A n.298T>A c.759T>A (p.Ser253=) c.1044T>A (p.Ser348=) c.921T>A c.435T>A (p.Ser145=) c.972T>A (p.Ser324=) c.*244T>A (n.*244T>A) c.978T>A (p.Ser326=) n.342T>A n.3575T>A c.482T>A c.957T>A (p.Ser319=) c.*646T>A (n.*646T>A) c.1165T>A (n.1165T>A) c.1035T>A (p.Ser345=) c.923-2501T>A (n.923-2501T>A) c.1041T>A (p.Ser347=) c.1083T>A (p.Ser361=) c.624T>A (p.Ser208=) |