| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.47406693G>A | CA356811229 | GABRB1 | c.847G>A (p.Val283Met) c.826G>A (p.Val276Met) c.196G>A (p.Val66Met) c.748G>A (p.Val250Met) | |
| 4 | g.47406693G>C | CA356811230 | GABRB1 | c.847G>C (p.Val283Leu) c.826G>C (p.Val276Leu) c.196G>C (p.Val66Leu) c.748G>C (p.Val250Leu) | |
| 4 | g.47406693G>T | CA356811231 | GABRB1 | c.847G>T (p.Val283Leu) c.826G>T (p.Val276Leu) c.196G>T (p.Val66Leu) c.748G>T (p.Val250Leu) | |
| 4 | g.47406694T>A | CA356811232 | GABRB1 | c.848T>A (p.Val283Glu) c.827T>A (p.Val276Glu) c.197T>A (p.Val66Glu) c.749T>A (p.Val250Glu) | |
| 4 | g.47406694T>C | CA356811233 | GABRB1 | c.848T>C (p.Val283Ala) c.827T>C (p.Val276Ala) c.197T>C (p.Val66Ala) c.749T>C (p.Val250Ala) | |
| 4 | g.47406694T>G | CA356811234 | GABRB1 | c.848T>G (p.Val283Gly) c.827T>G (p.Val276Gly) c.197T>G (p.Val66Gly) c.749T>G (p.Val250Gly) | |
| 4 | g.47406695G>A | CA439245685 | GABRB1 | c.849G>A (p.Val283=) c.828G>A (p.Val276=) c.198G>A (p.Val66=) c.750G>A (p.Val250=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47406695G>C | CA439245686 | GABRB1 | c.849G>C (p.Val283=) c.828G>C (p.Val276=) c.198G>C (p.Val66=) c.750G>C (p.Val250=) | |
| 4 | g.47406695G>T | CA439245687 | GABRB1 | c.849G>T (p.Val283=) c.828G>T (p.Val276=) c.198G>T (p.Val66=) c.750G>T (p.Val250=) | |
| 4 | g.47406696C>A | CA356811237 | GABRB1 | c.850C>A (p.Leu284Ile) c.829C>A (p.Leu277Ile) c.199C>A (p.Leu67Ile) c.751C>A (p.Leu251Ile) | |
| 4 | g.47406696C>G | CA356811235 | GABRB1 | c.850C>G (p.Leu284Val) c.829C>G (p.Leu277Val) c.199C>G (p.Leu67Val) c.751C>G (p.Leu251Val) | |
| 4 | g.47406696C>T | CA356811236 | GABRB1 | c.850C>T (p.Leu284Phe) c.829C>T (p.Leu277Phe) c.199C>T (p.Leu67Phe) c.751C>T (p.Leu251Phe) | |
| 4 | g.47406697T>A | CA356811238 | GABRB1 | c.851T>A (p.Leu284His) c.830T>A (p.Leu277His) c.200T>A (p.Leu67His) c.752T>A (p.Leu251His) | |
| 4 | g.47406697T>C | CA356811239 | GABRB1 | c.851T>C (p.Leu284Pro) c.830T>C (p.Leu277Pro) c.200T>C (p.Leu67Pro) c.752T>C (p.Leu251Pro) | |
| 4 | g.47406697T>G | CA356811240 | GABRB1 | c.851T>G (p.Leu284Arg) c.830T>G (p.Leu277Arg) c.200T>G (p.Leu67Arg) c.752T>G (p.Leu251Arg) | |
| 4 | g.47406698T>A | CA439245688 | GABRB1 | c.852T>A (p.Leu284=) c.831T>A (p.Leu277=) c.201T>A (p.Leu67=) c.753T>A (p.Leu251=) | |
| 4 | g.47406698T>C | CA439245689 | GABRB1 | c.852T>C (p.Leu284=) c.831T>C (p.Leu277=) c.201T>C (p.Leu67=) c.753T>C (p.Leu251=) | |
| 4 | g.47406698T>G | CA439245690 | GABRB1 | c.852T>G (p.Leu284=) c.831T>G (p.Leu277=) c.201T>G (p.Leu67=) c.753T>G (p.Leu251=) | |
| 4 | g.47406699A>C | CA356811241 | GABRB1 | c.853A>C (p.Thr285Pro) c.832A>C (p.Thr278Pro) c.202A>C (p.Thr68Pro) c.754A>C (p.Thr252Pro) | |
| 4 | g.47406699A>G | CA356811242 | GABRB1 | c.853A>G (p.Thr285Ala) c.832A>G (p.Thr278Ala) c.202A>G (p.Thr68Ala) c.754A>G (p.Thr252Ala) | gnomAD v4 |
| 4 | g.47406699A>T | CA356811243 | GABRB1 | c.853A>T (p.Thr285Ser) c.832A>T (p.Thr278Ser) c.202A>T (p.Thr68Ser) c.754A>T (p.Thr252Ser) | |
| 4 | g.47406700C>A | CA356811244 | GABRB1 | c.854C>A (p.Thr285Lys) c.833C>A (p.Thr278Lys) c.203C>A (p.Thr68Lys) c.755C>A (p.Thr252Lys) | ClinVar dbSNP |
| 4 | g.47406700C= | CA1455320412 | GABRB1 | c.854C= (p.Thr285=) c.833C= (p.Thr278=) c.203C= (p.Thr68=) c.755C= (p.Thr252=) | |
| 4 | g.47406700C>G | CA356811245 | GABRB1 | c.854C>G (p.Thr285Arg) c.833C>G (p.Thr278Arg) c.203C>G (p.Thr68Arg) c.755C>G (p.Thr252Arg) | |
| 4 | g.47406700C>T | CA356811246 | GABRB1 | c.854C>T (p.Thr285Ile) c.833C>T (p.Thr278Ile) c.203C>T (p.Thr68Ile) c.755C>T (p.Thr252Ile) | |
| 4 | g.47406701A>C | CA439245691 | GABRB1 | c.855A>C (p.Thr285=) c.834A>C (p.Thr278=) c.204A>C (p.Thr68=) c.756A>C (p.Thr252=) | |
| 4 | g.47406701A>G | CA439245692 | GABRB1 | c.855A>G (p.Thr285=) c.834A>G (p.Thr278=) c.204A>G (p.Thr68=) c.756A>G (p.Thr252=) | |
| 4 | g.47406701A>T | CA439245693 | GABRB1 | c.855A>T (p.Thr285=) c.834A>T (p.Thr278=) c.204A>T (p.Thr68=) c.756A>T (p.Thr252=) | |
| 4 | g.47406702A>C | CA356811247 | GABRB1 | c.856A>C (p.Met286Leu) c.835A>C (p.Met279Leu) c.205A>C (p.Met69Leu) c.757A>C (p.Met253Leu) | |
| 4 | g.47406702A>G | CA356811248 | GABRB1 | c.856A>G (p.Met286Val) c.835A>G (p.Met279Val) c.205A>G (p.Met69Val) c.757A>G (p.Met253Val) | |
| 4 | g.47406702A>T | CA356811249 | GABRB1 | c.856A>T (p.Met286Leu) c.835A>T (p.Met279Leu) c.205A>T (p.Met69Leu) c.757A>T (p.Met253Leu) | |
| 4 | g.47406703T>A | CA356811252 | GABRB1 | c.857T>A (p.Met286Lys) c.836T>A (p.Met279Lys) c.206T>A (p.Met69Lys) c.758T>A (p.Met253Lys) | |
| 4 | g.47406703T>C | CA356811251 | GABRB1 | c.857T>C (p.Met286Thr) c.836T>C (p.Met279Thr) c.206T>C (p.Met69Thr) c.758T>C (p.Met253Thr) | |
| 4 | g.47406703T>G | CA356811250 | GABRB1 | c.857T>G (p.Met286Arg) c.836T>G (p.Met279Arg) c.206T>G (p.Met69Arg) c.758T>G (p.Met253Arg) | |
| 4 | g.47406704G>A | CA356811255 | GABRB1 | c.858G>A (p.Met286Ile) c.837G>A (p.Met279Ile) c.207G>A (p.Met69Ile) c.759G>A (p.Met253Ile) | |
| 4 | g.47406704G>C | CA356811253 | GABRB1 | c.858G>C (p.Met286Ile) c.837G>C (p.Met279Ile) c.207G>C (p.Met69Ile) c.759G>C (p.Met253Ile) | |
| 4 | g.47406704G>T | CA356811254 | GABRB1 | c.858G>T (p.Met286Ile) c.837G>T (p.Met279Ile) c.207G>T (p.Met69Ile) c.759G>T (p.Met253Ile) | |
| 4 | g.47406705A>C | CA356811256 | GABRB1 | c.859A>C (p.Thr287Pro) c.838A>C (p.Thr280Pro) c.208A>C (p.Thr70Pro) c.760A>C (p.Thr254Pro) | |
| 4 | g.47406705A>G | CA356811257 | GABRB1 | c.859A>G (p.Thr287Ala) c.838A>G (p.Thr280Ala) c.208A>G (p.Thr70Ala) c.760A>G (p.Thr254Ala) | |
| 4 | g.47406705A>T | CA356811258 | GABRB1 | c.859A>T (p.Thr287Ser) c.838A>T (p.Thr280Ser) c.208A>T (p.Thr70Ser) c.760A>T (p.Thr254Ser) | |
| 4 | g.47406706C>A | CA356811259 | GABRB1 | c.860C>A (p.Thr287Lys) c.839C>A (p.Thr280Lys) c.209C>A (p.Thr70Lys) c.761C>A (p.Thr254Lys) | COSMIC |
| 4 | g.47406706C= | CA1455320415 | GABRB1 | c.860C= (p.Thr287=) c.839C= (p.Thr280=) c.209C= (p.Thr70=) c.761C= (p.Thr254=) | |
| 4 | g.47406706C>G | CA356811260 | GABRB1 | c.860C>G (p.Thr287Arg) c.839C>G (p.Thr280Arg) c.209C>G (p.Thr70Arg) c.761C>G (p.Thr254Arg) | |
| 4 | g.47406706C>T | CA10588847 | GABRB1 | c.860C>T (p.Thr287Ile) c.839C>T (p.Thr280Ile) c.209C>T (p.Thr70Ile) c.761C>T (p.Thr254Ile) | ClinVar dbSNP |
| 4 | g.47406707A>C | CA439245694 | GABRB1 | c.861A>C (p.Thr287=) c.840A>C (p.Thr280=) c.210A>C (p.Thr70=) c.762A>C (p.Thr254=) | gnomAD v4 |
| 4 | g.47406707A>G | CA439245695 | GABRB1 | c.861A>G (p.Thr287=) c.840A>G (p.Thr280=) c.210A>G (p.Thr70=) c.762A>G (p.Thr254=) | |
| 4 | g.47406707A>T | CA439245696 | GABRB1 | c.861A>T (p.Thr287=) c.840A>T (p.Thr280=) c.210A>T (p.Thr70=) c.762A>T (p.Thr254=) | |
| 4 | g.47406708A>C | CA356811261 | GABRB1 | c.862A>C (p.Thr288Pro) c.841A>C (p.Thr281Pro) c.211A>C (p.Thr71Pro) c.763A>C (p.Thr255Pro) | |
| 4 | g.47406708A>G | CA356811263 | GABRB1 | c.862A>G (p.Thr288Ala) c.841A>G (p.Thr281Ala) c.211A>G (p.Thr71Ala) c.763A>G (p.Thr255Ala) | ClinVar |
| 4 | g.47406708A>T | CA356811262 | GABRB1 | c.862A>T (p.Thr288Ser) c.841A>T (p.Thr281Ser) c.211A>T (p.Thr71Ser) c.763A>T (p.Thr255Ser) | |
| 4 | g.47406709C>A | CA356811264 | GABRB1 | c.863C>A (p.Thr288Asn) c.842C>A (p.Thr281Asn) c.212C>A (p.Thr71Asn) c.764C>A (p.Thr255Asn) | |
| 4 | g.47406709C>G | CA356811265 | GABRB1 | c.863C>G (p.Thr288Ser) c.842C>G (p.Thr281Ser) c.212C>G (p.Thr71Ser) c.764C>G (p.Thr255Ser) | |
| 4 | g.47406709C>T | CA356811266 | GABRB1 | c.863C>T (p.Thr288Ile) c.842C>T (p.Thr281Ile) c.212C>T (p.Thr71Ile) c.764C>T (p.Thr255Ile) | |
| 4 | g.47406710C>A | CA97302420 | GABRB1 | c.864C>A (p.Thr288=) c.843C>A (p.Thr281=) c.213C>A (p.Thr71=) c.765C>A (p.Thr255=) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47406710C= | CA1455320419 | GABRB1 | c.864C= (p.Thr288=) c.843C= (p.Thr281=) c.213C= (p.Thr71=) c.765C= (p.Thr255=) | |
| 4 | g.47406710C>G | CA439245697 | GABRB1 | c.864C>G (p.Thr288=) c.843C>G (p.Thr281=) c.213C>G (p.Thr71=) c.765C>G (p.Thr255=) | |
| 4 | g.47406710C>T | CA439245698 | GABRB1 | c.864C>T (p.Thr288=) c.843C>T (p.Thr281=) c.213C>T (p.Thr71=) c.765C>T (p.Thr255=) | |
| 4 | g.47406711A>C | CA356811267 | GABRB1 | c.865A>C (p.Ile289Leu) c.844A>C (p.Ile282Leu) c.214A>C (p.Ile72Leu) c.766A>C (p.Ile256Leu) | |
| 4 | g.47406711A>G | CA356811269 | GABRB1 | c.865A>G (p.Ile289Val) c.844A>G (p.Ile282Val) c.214A>G (p.Ile72Val) c.766A>G (p.Ile256Val) | |
| 4 | g.47406711A>T | CA356811268 | GABRB1 | c.865A>T (p.Ile289Phe) c.844A>T (p.Ile282Phe) c.214A>T (p.Ile72Phe) c.766A>T (p.Ile256Phe) | |
| 4 | g.47406712T>A | CA2907707 | GABRB1 | c.866T>A (p.Ile289Asn) c.845T>A (p.Ile282Asn) c.215T>A (p.Ile72Asn) c.767T>A (p.Ile256Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406712T>C | CA356811270 | GABRB1 | c.866T>C (p.Ile289Thr) c.845T>C (p.Ile282Thr) c.215T>C (p.Ile72Thr) c.767T>C (p.Ile256Thr) | ClinVar gnomAD v3 gnomAD v4 |
| 4 | g.47406712T>G | CA356811271 | GABRB1 | c.866T>G (p.Ile289Ser) c.845T>G (p.Ile282Ser) c.215T>G (p.Ile72Ser) c.767T>G (p.Ile256Ser) | |
| 4 | g.47406712T= | CA1455320421 | GABRB1 | c.866T= (p.Ile289=) c.845T= (p.Ile282=) c.215T= (p.Ile72=) c.767T= (p.Ile256=) | |
| 4 | g.47406713C>A | CA439245741 | GABRB1 | c.867C>A (p.Ile289=) c.846C>A (p.Ile282=) c.216C>A (p.Ile72=) c.768C>A (p.Ile256=) | |
| 4 | g.47406713C= | CA1455320426 | GABRB1 | c.867C= (p.Ile289=) c.846C= (p.Ile282=) c.216C= (p.Ile72=) c.768C= (p.Ile256=) | |
| 4 | g.47406713C>G | CA356811272 | GABRB1 | c.867C>G (p.Ile289Met) c.846C>G (p.Ile282Met) c.216C>G (p.Ile72Met) c.768C>G (p.Ile256Met) | |
| 4 | g.47406713C>T | CA439245742 | GABRB1 | c.867C>T (p.Ile289=) c.846C>T (p.Ile282=) c.216C>T (p.Ile72=) c.768C>T (p.Ile256=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47406714A>C | CA356811273 | GABRB1 | c.868A>C (p.Ser290Arg) c.847A>C (p.Ser283Arg) c.217A>C (p.Ser73Arg) c.769A>C (p.Ser257Arg) | |
| 4 | g.47406714A>G | CA356811274 | GABRB1 | c.868A>G (p.Ser290Gly) c.847A>G (p.Ser283Gly) c.217A>G (p.Ser73Gly) c.769A>G (p.Ser257Gly) | |
| 4 | g.47406714A>T | CA356811275 | GABRB1 | c.868A>T (p.Ser290Cys) c.847A>T (p.Ser283Cys) c.217A>T (p.Ser73Cys) c.769A>T (p.Ser257Cys) | |
| 4 | g.47406715G>A | CA356811276 | GABRB1 | c.869G>A (p.Ser290Asn) c.848G>A (p.Ser283Asn) c.218G>A (p.Ser73Asn) c.770G>A (p.Ser257Asn) | |
| 4 | g.47406715G>C | CA356811277 | GABRB1 | c.869G>C (p.Ser290Thr) c.848G>C (p.Ser283Thr) c.218G>C (p.Ser73Thr) c.770G>C (p.Ser257Thr) | |
| 4 | g.47406715G= | CA1455320430 | GABRB1 | c.869G= (p.Ser290=) c.848G= (p.Ser283=) c.218G= (p.Ser73=) c.770G= (p.Ser257=) | |
| 4 | g.47406715G>T | CA97302421 | GABRB1 | c.869G>T (p.Ser290Ile) c.848G>T (p.Ser283Ile) c.218G>T (p.Ser73Ile) c.770G>T (p.Ser257Ile) | dbSNP |
| 4 | g.47406716C>A | CA356811278 | GABRB1 | c.870C>A (p.Ser290Arg) c.849C>A (p.Ser283Arg) c.219C>A (p.Ser73Arg) c.771C>A (p.Ser257Arg) | |
| 4 | g.47406716C>G | CA356811279 | GABRB1 | c.870C>G (p.Ser290Arg) c.849C>G (p.Ser283Arg) c.219C>G (p.Ser73Arg) c.771C>G (p.Ser257Arg) | |
| 4 | g.47406716C>T | CA439245746 | GABRB1 | c.870C>T (p.Ser290=) c.849C>T (p.Ser283=) c.219C>T (p.Ser73=) c.771C>T (p.Ser257=) | gnomAD v4 |
| 4 | g.47406717A>C | CA356811280 | GABRB1 | c.871A>C (p.Thr291Pro) c.850A>C (p.Thr284Pro) c.220A>C (p.Thr74Pro) c.772A>C (p.Thr258Pro) | |
| 4 | g.47406717A>G | CA356811282 | GABRB1 | c.871A>G (p.Thr291Ala) c.850A>G (p.Thr284Ala) c.220A>G (p.Thr74Ala) c.772A>G (p.Thr258Ala) | |
| 4 | g.47406717A>T | CA356811281 | GABRB1 | c.871A>T (p.Thr291Ser) c.850A>T (p.Thr284Ser) c.220A>T (p.Thr74Ser) c.772A>T (p.Thr258Ser) | |
| 4 | g.47406718C>A | CA356811283 | GABRB1 | c.872C>A (p.Thr291Asn) c.851C>A (p.Thr284Asn) c.221C>A (p.Thr74Asn) c.773C>A (p.Thr258Asn) | |
| 4 | g.47406718C>G | CA356811284 | GABRB1 | c.872C>G (p.Thr291Ser) c.851C>G (p.Thr284Ser) c.221C>G (p.Thr74Ser) c.773C>G (p.Thr258Ser) | |
| 4 | g.47406718C>T | CA356811285 | GABRB1 | c.872C>T (p.Thr291Ile) c.851C>T (p.Thr284Ile) c.221C>T (p.Thr74Ile) c.773C>T (p.Thr258Ile) | COSMIC |
| 4 | g.47406720dup | CA645538228 | GABRB1 | c.874dup (p.His292ProfsTer16) c.853dup (p.His285ProfsTer16) c.223dup (p.His75ProfsTer16) c.775dup (p.His259ProfsTer16) | COSMIC |
| 4 | g.47406719C>A | CA439245748 | GABRB1 | c.873C>A (p.Thr291=) c.852C>A (p.Thr284=) c.222C>A (p.Thr74=) c.774C>A (p.Thr258=) | |
| 4 | g.47406719C= | CA1455320434 | GABRB1 | c.873C= (p.Thr291=) c.852C= (p.Thr284=) c.222C= (p.Thr74=) c.774C= (p.Thr258=) | |
| 4 | g.47406719C>G | CA439245750 | GABRB1 | c.873C>G (p.Thr291=) c.852C>G (p.Thr284=) c.222C>G (p.Thr74=) c.774C>G (p.Thr258=) | |
| 4 | g.47406719C>T | CA2907708 | GABRB1 | c.873C>T (p.Thr291=) c.852C>T (p.Thr284=) c.222C>T (p.Thr74=) c.774C>T (p.Thr258=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406720C>A | CA356811286 | GABRB1 | c.874C>A (p.His292Asn) c.853C>A (p.His285Asn) c.223C>A (p.His75Asn) c.775C>A (p.His259Asn) | |
| 4 | g.47406720C>G | CA356811287 | GABRB1 | c.874C>G (p.His292Asp) c.853C>G (p.His285Asp) c.223C>G (p.His75Asp) c.775C>G (p.His259Asp) | |
| 4 | g.47406720C>T | CA356811288 | GABRB1 | c.874C>T (p.His292Tyr) c.853C>T (p.His285Tyr) c.223C>T (p.His75Tyr) c.775C>T (p.His259Tyr) | |
| 4 | g.47406721A>C | CA356811289 | GABRB1 | c.875A>C (p.His292Pro) c.854A>C (p.His285Pro) c.224A>C (p.His75Pro) c.776A>C (p.His259Pro) | |
| 4 | g.47406721A>G | CA356811290 | GABRB1 | c.875A>G (p.His292Arg) c.854A>G (p.His285Arg) c.224A>G (p.His75Arg) c.776A>G (p.His259Arg) | |
| 4 | g.47406721A>T | CA356811291 | GABRB1 | c.875A>T (p.His292Leu) c.854A>T (p.His285Leu) c.224A>T (p.His75Leu) c.776A>T (p.His259Leu) | |
| 4 | g.47406722C>A | CA356811292 | GABRB1 | c.876C>A (p.His292Gln) c.855C>A (p.His285Gln) c.225C>A (p.His75Gln) c.777C>A (p.His259Gln) | |
| 4 | g.47406722C>G | CA356811293 | GABRB1 | c.876C>G (p.His292Gln) c.855C>G (p.His285Gln) c.225C>G (p.His75Gln) c.777C>G (p.His259Gln) | |
| 4 | g.47406722C>T | CA439245752 | GABRB1 | c.876C>T (p.His292=) c.855C>T (p.His285=) c.225C>T (p.His75=) c.777C>T (p.His259=) | ClinVar dbSNP gnomAD v4 |
| 4 | g.47406723C>A | CA356811296 | GABRB1 | c.877C>A (p.Leu293Ile) c.856C>A (p.Leu286Ile) c.226C>A (p.Leu76Ile) c.778C>A (p.Leu260Ile) | COSMIC |
| 4 | g.47406723C>G | CA356811295 | GABRB1 | c.877C>G (p.Leu293Val) c.856C>G (p.Leu286Val) c.226C>G (p.Leu76Val) c.778C>G (p.Leu260Val) | |
| 4 | g.47406723C>T | CA356811294 | GABRB1 | c.877C>T (p.Leu293Phe) c.856C>T (p.Leu286Phe) c.226C>T (p.Leu76Phe) c.778C>T (p.Leu260Phe) | |
| 4 | g.47406724T>A | CA356811297 | GABRB1 | c.878T>A (p.Leu293His) c.857T>A (p.Leu286His) c.227T>A (p.Leu76His) c.779T>A (p.Leu260His) | |
| 4 | g.47406724T>C | CA356811298 | GABRB1 | c.878T>C (p.Leu293Pro) c.857T>C (p.Leu286Pro) c.227T>C (p.Leu76Pro) c.779T>C (p.Leu260Pro) | |
| 4 | g.47406724T>G | CA356811299 | GABRB1 | c.878T>G (p.Leu293Arg) c.857T>G (p.Leu286Arg) c.227T>G (p.Leu76Arg) c.779T>G (p.Leu260Arg) | |
| 4 | g.47406725C>A | CA439245754 | GABRB1 | c.879C>A (p.Leu293=) c.858C>A (p.Leu286=) c.228C>A (p.Leu76=) c.780C>A (p.Leu260=) | |
| 4 | g.47406725C= | CA1455320439 | GABRB1 | c.879C= (p.Leu293=) c.858C= (p.Leu286=) c.228C= (p.Leu76=) c.780C= (p.Leu260=) | |
| 4 | g.47406725C>G | CA439245755 | GABRB1 | c.879C>G (p.Leu293=) c.858C>G (p.Leu286=) c.228C>G (p.Leu76=) c.780C>G (p.Leu260=) | |
| 4 | g.47406725C>T | CA2907709 | GABRB1 | c.879C>T (p.Leu293=) c.858C>T (p.Leu286=) c.228C>T (p.Leu76=) c.780C>T (p.Leu260=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47406726A= | CA1455320452 | GABRB1 | c.880A= (p.Arg294=) c.859A= (p.Arg287=) c.229A= (p.Arg77=) c.781A= (p.Arg261=) | |
| 4 | g.47406726A>C | CA439245756 | GABRB1 | c.880A>C (p.Arg294=) c.859A>C (p.Arg287=) c.229A>C (p.Arg77=) c.781A>C (p.Arg261=) | dbSNP |
| 4 | g.47406726A>G | CA97302422 | GABRB1 | c.880A>G (p.Arg294Gly) c.859A>G (p.Arg287Gly) c.229A>G (p.Arg77Gly) c.781A>G (p.Arg261Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.47406726A>T | CA356811300 | GABRB1 | c.880A>T (p.Arg294Trp) c.859A>T (p.Arg287Trp) c.229A>T (p.Arg77Trp) c.781A>T (p.Arg261Trp) | |
| 4 | g.47406726_47406727delinsAG | CA1455320450 | GABRB1 | c.880_881delinsAG (p.Arg294=) c.859_860delinsAG (p.Arg287=) c.229_230delinsAG (p.Arg77=) c.781_782delinsAG (p.Arg261=) | |
| 4 | g.47406727G>A | CA356811301 | GABRB1 | c.881G>A (p.Arg294Lys) c.860G>A (p.Arg287Lys) c.230G>A (p.Arg77Lys) c.782G>A (p.Arg261Lys) | |
| 4 | g.47406727G>C | CA356811302 | GABRB1 | c.881G>C (p.Arg294Thr) c.860G>C (p.Arg287Thr) c.230G>C (p.Arg77Thr) c.782G>C (p.Arg261Thr) | |
| 4 | g.47406727G>T | CA356811303 | GABRB1 | c.881G>T (p.Arg294Met) c.860G>T (p.Arg287Met) c.230G>T (p.Arg77Met) c.782G>T (p.Arg261Met) | |
| 4 | g.47406729del | CA97302423 | GABRB1 | c.883del (p.Glu295ArgfsTer16) c.862del (p.Glu288ArgfsTer16) c.232del (p.Glu78ArgfsTer16) c.784del (p.Glu262ArgfsTer16) | dbSNP |
| 4 | g.47406728G>A | CA2907710 | GABRB1 | c.882G>A (p.Arg294=) c.861G>A (p.Arg287=) c.231G>A (p.Arg77=) c.783G>A (p.Arg261=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47406728G>C | CA356811307 | GABRB1 | c.882G>C (p.Arg294Ser) c.861G>C (p.Arg287Ser) c.231G>C (p.Arg77Ser) c.783G>C (p.Arg261Ser) | |
| 4 | g.47406728G= | CA1455320458 | GABRB1 | c.882G= (p.Arg294=) c.861G= (p.Arg287=) c.231G= (p.Arg77=) c.783G= (p.Arg261=) | |
| 4 | g.47406728G>T | CA356811309 | GABRB1 | c.882G>T (p.Arg294Ser) c.861G>T (p.Arg287Ser) c.231G>T (p.Arg77Ser) c.783G>T (p.Arg261Ser) | |
| 4 | g.47406729G>A | CA356811313 | GABRB1 | c.883G>A (p.Glu295Lys) c.862G>A (p.Glu288Lys) c.232G>A (p.Glu78Lys) c.784G>A (p.Glu262Lys) | |
| 4 | g.47406729G>C | CA356811315 | GABRB1 | c.883G>C (p.Glu295Gln) c.862G>C (p.Glu288Gln) c.232G>C (p.Glu78Gln) c.784G>C (p.Glu262Gln) | |
| 4 | g.47406729G>T | CA356811311 | GABRB1 | c.883G>T (p.Glu295Ter) c.862G>T (p.Glu288Ter) c.232G>T (p.Glu78Ter) c.784G>T (p.Glu262Ter) | |
| 4 | g.47406730A>C | CA356811317 | GABRB1 | c.884A>C (p.Glu295Ala) c.863A>C (p.Glu288Ala) c.233A>C (p.Glu78Ala) c.785A>C (p.Glu262Ala) | |
| 4 | g.47406730A>G | CA356811319 | GABRB1 | c.884A>G (p.Glu295Gly) c.863A>G (p.Glu288Gly) c.233A>G (p.Glu78Gly) c.785A>G (p.Glu262Gly) | |
| 4 | g.47406730A>T | CA356811318 | GABRB1 | c.884A>T (p.Glu295Val) c.863A>T (p.Glu288Val) c.233A>T (p.Glu78Val) c.785A>T (p.Glu262Val) | |
| 4 | g.47406731G>A | CA439245758 | GABRB1 | c.885G>A (p.Glu295=) c.864G>A (p.Glu288=) c.234G>A (p.Glu78=) c.786G>A (p.Glu262=) | gnomAD v4 |
| 4 | g.47406731G>C | CA356811322 | GABRB1 | c.885G>C (p.Glu295Asp) c.864G>C (p.Glu288Asp) c.234G>C (p.Glu78Asp) c.786G>C (p.Glu262Asp) | gnomAD v4 |
| 4 | g.47406731G>T | CA356811324 | GABRB1 | c.885G>T (p.Glu295Asp) c.864G>T (p.Glu288Asp) c.234G>T (p.Glu78Asp) c.786G>T (p.Glu262Asp) | |
| 4 | g.47406732A>C | CA356811327 | GABRB1 | c.886A>C (p.Thr296Pro) c.865A>C (p.Thr289Pro) c.235A>C (p.Thr79Pro) c.787A>C (p.Thr263Pro) | |
| 4 | g.47406732A>G | CA356811329 | GABRB1 | c.886A>G (p.Thr296Ala) c.865A>G (p.Thr289Ala) c.235A>G (p.Thr79Ala) c.787A>G (p.Thr263Ala) | |
| 4 | g.47406732A>T | CA356811330 | GABRB1 | c.886A>T (p.Thr296Ser) c.865A>T (p.Thr289Ser) c.235A>T (p.Thr79Ser) c.787A>T (p.Thr263Ser) | |
| 4 | g.47406733C>A | CA356811333 | GABRB1 | c.887C>A (p.Thr296Asn) c.866C>A (p.Thr289Asn) c.236C>A (p.Thr79Asn) c.788C>A (p.Thr263Asn) | |
| 4 | g.47406733C>G | CA356811334 | GABRB1 | c.887C>G (p.Thr296Ser) c.866C>G (p.Thr289Ser) c.236C>G (p.Thr79Ser) c.788C>G (p.Thr263Ser) | |
| 4 | g.47406733C>T | CA356811336 | GABRB1 | c.887C>T (p.Thr296Ile) c.866C>T (p.Thr289Ile) c.236C>T (p.Thr79Ile) c.788C>T (p.Thr263Ile) | |
| 4 | g.47406734C>A | CA439245760 | GABRB1 | c.888C>A (p.Thr296=) c.867C>A (p.Thr289=) c.237C>A (p.Thr79=) c.789C>A (p.Thr263=) | COSMIC |
| 4 | g.47406734C>G | CA439245761 | GABRB1 | c.888C>G (p.Thr296=) c.867C>G (p.Thr289=) c.237C>G (p.Thr79=) c.789C>G (p.Thr263=) | |
| 4 | g.47406734C>T | CA439245762 | GABRB1 | c.888C>T (p.Thr296=) c.867C>T (p.Thr289=) c.237C>T (p.Thr79=) c.789C>T (p.Thr263=) | COSMIC |
| 4 | g.47406735C>A | CA356811338 | GABRB1 | c.889C>A (p.Leu297Met) c.868C>A (p.Leu290Met) c.238C>A (p.Leu80Met) c.790C>A (p.Leu264Met) | |
| 4 | g.47406735C>G | CA356811340 | GABRB1 | c.889C>G (p.Leu297Val) c.868C>G (p.Leu290Val) c.238C>G (p.Leu80Val) c.790C>G (p.Leu264Val) | |
| 4 | g.47406735C>T | CA439245763 | GABRB1 | c.889C>T (p.Leu297=) c.868C>T (p.Leu290=) c.238C>T (p.Leu80=) c.790C>T (p.Leu264=) | gnomAD v4 |
| 4 | g.47406736T>A | CA356811342 | GABRB1 | c.890T>A (p.Leu297Gln) c.869T>A (p.Leu290Gln) c.239T>A (p.Leu80Gln) c.791T>A (p.Leu264Gln) | |
| 4 | g.47406736T>C | CA356811344 | GABRB1 | c.890T>C (p.Leu297Pro) c.869T>C (p.Leu290Pro) c.239T>C (p.Leu80Pro) c.791T>C (p.Leu264Pro) | |
| 4 | g.47406736T>G | CA356811346 | GABRB1 | c.890T>G (p.Leu297Arg) c.869T>G (p.Leu290Arg) c.239T>G (p.Leu80Arg) c.791T>G (p.Leu264Arg) | |
| 4 | g.47406737G>A | CA439245764 | GABRB1 | c.891G>A (p.Leu297=) c.870G>A (p.Leu290=) c.240G>A (p.Leu80=) c.792G>A (p.Leu264=) | |
| 4 | g.47406737G>C | CA439245765 | GABRB1 | c.891G>C (p.Leu297=) c.870G>C (p.Leu290=) c.240G>C (p.Leu80=) c.792G>C (p.Leu264=) | |
| 4 | g.47406737G>T | CA439245766 | GABRB1 | c.891G>T (p.Leu297=) c.870G>T (p.Leu290=) c.240G>T (p.Leu80=) c.792G>T (p.Leu264=) | |
| 4 | g.47406738C>A | CA356811352 | GABRB1 | c.892C>A (p.Pro298Thr) c.871C>A (p.Pro291Thr) c.241C>A (p.Pro81Thr) c.793C>A (p.Pro265Thr) | |
| 4 | g.47406738C>G | CA356811348 | GABRB1 | c.892C>G (p.Pro298Ala) c.871C>G (p.Pro291Ala) c.241C>G (p.Pro81Ala) c.793C>G (p.Pro265Ala) | |
| 4 | g.47406738C>T | CA356811350 | GABRB1 | c.892C>T (p.Pro298Ser) c.871C>T (p.Pro291Ser) c.241C>T (p.Pro81Ser) c.793C>T (p.Pro265Ser) | |
| 4 | g.47406739C>A | CA356811354 | GABRB1 | c.893C>A (p.Pro298Gln) c.872C>A (p.Pro291Gln) c.242C>A (p.Pro81Gln) c.794C>A (p.Pro265Gln) | |
| 4 | g.47406739C>G | CA356811355 | GABRB1 | c.893C>G (p.Pro298Arg) c.872C>G (p.Pro291Arg) c.242C>G (p.Pro81Arg) c.794C>G (p.Pro265Arg) | |
| 4 | g.47406739C>T | CA356811357 | GABRB1 | c.893C>T (p.Pro298Leu) c.872C>T (p.Pro291Leu) c.242C>T (p.Pro81Leu) c.794C>T (p.Pro265Leu) | |
| 4 | g.47406740A>C | CA439245767 | GABRB1 | c.894A>C (p.Pro298=) c.873A>C (p.Pro291=) c.243A>C (p.Pro81=) c.795A>C (p.Pro265=) | |
| 4 | g.47406740A>G | CA439245768 | GABRB1 | c.894A>G (p.Pro298=) c.873A>G (p.Pro291=) c.243A>G (p.Pro81=) c.795A>G (p.Pro265=) | |
| 4 | g.47406740A>T | CA439245769 | GABRB1 | c.894A>T (p.Pro298=) c.873A>T (p.Pro291=) c.243A>T (p.Pro81=) c.795A>T (p.Pro265=) | |
| 4 | g.47406741A>C | CA356811360 | GABRB1 | c.895A>C (p.Lys299Gln) c.874A>C (p.Lys292Gln) c.244A>C (p.Lys82Gln) c.796A>C (p.Lys266Gln) | |
| 4 | g.47406741A>G | CA356811361 | GABRB1 | c.895A>G (p.Lys299Glu) c.874A>G (p.Lys292Glu) c.244A>G (p.Lys82Glu) c.796A>G (p.Lys266Glu) | |
| 4 | g.47406741A>T | CA356811362 | GABRB1 | c.895A>T (p.Lys299Ter) c.874A>T (p.Lys292Ter) c.244A>T (p.Lys82Ter) c.796A>T (p.Lys266Ter) | |
| 4 | g.47406742A>C | CA356811365 | GABRB1 | c.896A>C (p.Lys299Thr) c.875A>C (p.Lys292Thr) c.245A>C (p.Lys82Thr) c.797A>C (p.Lys266Thr) | |
| 4 | g.47406742A>G | CA356811367 | GABRB1 | c.896A>G (p.Lys299Arg) c.875A>G (p.Lys292Arg) c.245A>G (p.Lys82Arg) c.797A>G (p.Lys266Arg) | |
| 4 | g.47406742A>T | CA356811368 | GABRB1 | c.896A>T (p.Lys299Met) c.875A>T (p.Lys292Met) c.245A>T (p.Lys82Met) c.797A>T (p.Lys266Met) | |
| 4 | g.47406743G>A | CA2907711 | GABRB1 | c.897G>A (p.Lys299=) c.876G>A (p.Lys292=) c.246G>A (p.Lys82=) c.798G>A (p.Lys266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47406743G>C | CA356811372 | GABRB1 | c.897G>C (p.Lys299Asn) c.876G>C (p.Lys292Asn) c.246G>C (p.Lys82Asn) c.798G>C (p.Lys266Asn) | |
| 4 | g.47406743G= | CA1455320462 | GABRB1 | c.897G= (p.Lys299=) c.876G= (p.Lys292=) c.246G= (p.Lys82=) c.798G= (p.Lys266=) | |
| 4 | g.47406743G>T | CA356811373 | GABRB1 | c.897G>T (p.Lys299Asn) c.876G>T (p.Lys292Asn) c.246G>T (p.Lys82Asn) c.798G>T (p.Lys266Asn) | |
| 4 | g.47406744A>C | CA356811376 | GABRB1 | c.898A>C (p.Ile300Leu) c.877A>C (p.Ile293Leu) c.247A>C (p.Ile83Leu) c.799A>C (p.Ile267Leu) | |
| 4 | g.47406744A>G | CA356811380 | GABRB1 | c.898A>G (p.Ile300Val) c.877A>G (p.Ile293Val) c.247A>G (p.Ile83Val) c.799A>G (p.Ile267Val) | |
| 4 | g.47406744A>T | CA356811378 | GABRB1 | c.898A>T (p.Ile300Phe) c.877A>T (p.Ile293Phe) c.247A>T (p.Ile83Phe) c.799A>T (p.Ile267Phe) | ClinVar |
| 4 | g.47406745T>A | CA356811382 | GABRB1 | c.899T>A (p.Ile300Asn) c.878T>A (p.Ile293Asn) c.248T>A (p.Ile83Asn) c.800T>A (p.Ile267Asn) | |
| 4 | g.47406745T>C | CA356811384 | GABRB1 | c.899T>C (p.Ile300Thr) c.878T>C (p.Ile293Thr) c.248T>C (p.Ile83Thr) c.800T>C (p.Ile267Thr) | |
| 4 | g.47406745T>G | CA356811386 | GABRB1 | c.899T>G (p.Ile300Ser) c.878T>G (p.Ile293Ser) c.248T>G (p.Ile83Ser) c.800T>G (p.Ile267Ser) | |
| 4 | g.47406746C>A | CA439245772 | GABRB1 | c.900C>A (p.Ile300=) c.879C>A (p.Ile293=) c.249C>A (p.Ile83=) c.801C>A (p.Ile267=) | |
| 4 | g.47406746C>G | CA356811388 | GABRB1 | c.900C>G (p.Ile300Met) c.879C>G (p.Ile293Met) c.249C>G (p.Ile83Met) c.801C>G (p.Ile267Met) | |
| 4 | g.47406746C>T | CA439245773 | GABRB1 | c.900C>T (p.Ile300=) c.879C>T (p.Ile293=) c.249C>T (p.Ile83=) c.801C>T (p.Ile267=) | gnomAD v4 COSMIC |
| 4 | g.47406746_47406747delinsTT | CA645538229 | GABRB1 | c.900_901delinsTT (p.Pro301Ser) c.879_880delinsTT (p.Pro294Ser) c.249_250delinsTT (p.Pro84Ser) c.801_802delinsTT (p.Pro268Ser) | COSMIC |
| 4 | g.47406747C>A | CA356811390 | GABRB1 | c.901C>A (p.Pro301Thr) c.880C>A (p.Pro294Thr) c.250C>A (p.Pro84Thr) c.802C>A (p.Pro268Thr) | |
| 4 | g.47406747C>G | CA356811392 | GABRB1 | c.901C>G (p.Pro301Ala) c.880C>G (p.Pro294Ala) c.250C>G (p.Pro84Ala) c.802C>G (p.Pro268Ala) | |
| 4 | g.47406747C>T | CA356811394 | GABRB1 | c.901C>T (p.Pro301Ser) c.880C>T (p.Pro294Ser) c.250C>T (p.Pro84Ser) c.802C>T (p.Pro268Ser) | |
| 4 | g.47406748C>A | CA356811396 | GABRB1 | c.902C>A (p.Pro301His) c.881C>A (p.Pro294His) c.251C>A (p.Pro84His) c.803C>A (p.Pro268His) | |
| 4 | g.47406748C>G | CA356811398 | GABRB1 | c.902C>G (p.Pro301Arg) c.881C>G (p.Pro294Arg) c.251C>G (p.Pro84Arg) c.803C>G (p.Pro268Arg) | gnomAD v4 |
| 4 | g.47406748C>T | CA356811399 | GABRB1 | c.902C>T (p.Pro301Leu) c.881C>T (p.Pro294Leu) c.251C>T (p.Pro84Leu) c.803C>T (p.Pro268Leu) | COSMIC |
| 4 | g.47406749T>A | CA439245774 | GABRB1 | c.903T>A (p.Pro301=) c.882T>A (p.Pro294=) c.252T>A (p.Pro84=) c.804T>A (p.Pro268=) | |
| 4 | g.47406749T>C | CA439245775 | GABRB1 | c.903T>C (p.Pro301=) c.882T>C (p.Pro294=) c.252T>C (p.Pro84=) c.804T>C (p.Pro268=) | dbSNP |
| 4 | g.47406749T>G | CA439245776 | GABRB1 | c.903T>G (p.Pro301=) c.882T>G (p.Pro294=) c.252T>G (p.Pro84=) c.804T>G (p.Pro268=) | |
| 4 | g.47406749T= | CA1455320464 | GABRB1 | c.903T= (p.Pro301=) c.882T= (p.Pro294=) c.252T= (p.Pro84=) c.804T= (p.Pro268=) | |
| 4 | g.47406750T>A | CA356811406 | GABRB1 | c.904T>A (p.Tyr302Asn) c.883T>A (p.Tyr295Asn) c.253T>A (p.Tyr85Asn) c.805T>A (p.Tyr269Asn) | |
| 4 | g.47406750T>C | CA356811404 | GABRB1 | c.904T>C (p.Tyr302His) c.883T>C (p.Tyr295His) c.253T>C (p.Tyr85His) c.805T>C (p.Tyr269His) | |
| 4 | g.47406750T>G | CA356811402 | GABRB1 | c.904T>G (p.Tyr302Asp) c.883T>G (p.Tyr295Asp) c.253T>G (p.Tyr85Asp) c.805T>G (p.Tyr269Asp) | |
| 4 | g.47406751A>C | CA356811409 | GABRB1 | c.905A>C (p.Tyr302Ser) c.884A>C (p.Tyr295Ser) c.254A>C (p.Tyr85Ser) c.806A>C (p.Tyr269Ser) | |
| 4 | g.47406751A>G | CA356811410 | GABRB1 | c.905A>G (p.Tyr302Cys) c.884A>G (p.Tyr295Cys) c.254A>G (p.Tyr85Cys) c.806A>G (p.Tyr269Cys) | |
| 4 | g.47406751A>T | CA356811411 | GABRB1 | c.905A>T (p.Tyr302Phe) c.884A>T (p.Tyr295Phe) c.254A>T (p.Tyr85Phe) c.806A>T (p.Tyr269Phe) | |
| 4 | g.47406752T>A | CA356811413 | GABRB1 | c.906T>A (p.Tyr302Ter) c.885T>A (p.Tyr295Ter) c.255T>A (p.Tyr85Ter) c.807T>A (p.Tyr269Ter) | |
| 4 | g.47406752T>C | CA2907712 | GABRB1 | c.906T>C (p.Tyr302=) c.885T>C (p.Tyr295=) c.255T>C (p.Tyr85=) c.807T>C (p.Tyr269=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406752T>G | CA356811415 | GABRB1 | c.906T>G (p.Tyr302Ter) c.885T>G (p.Tyr295Ter) c.255T>G (p.Tyr85Ter) c.807T>G (p.Tyr269Ter) | |
| 4 | g.47406752T= | CA1455320468 | GABRB1 | c.906T= (p.Tyr302=) c.885T= (p.Tyr295=) c.255T= (p.Tyr85=) c.807T= (p.Tyr269=) | |
| 4 | g.47406753G>A | CA356811418 | GABRB1 | c.907G>A (p.Val303Ile) c.886G>A (p.Val296Ile) c.256G>A (p.Val86Ile) c.808G>A (p.Val270Ile) | |
| 4 | g.47406753G>C | CA356811419 | GABRB1 | c.907G>C (p.Val303Leu) c.886G>C (p.Val296Leu) c.256G>C (p.Val86Leu) c.808G>C (p.Val270Leu) | |
| 4 | g.47406753G>T | CA356811421 | GABRB1 | c.907G>T (p.Val303Phe) c.886G>T (p.Val296Phe) c.256G>T (p.Val86Phe) c.808G>T (p.Val270Phe) | COSMIC |
| 4 | g.47406754T>A | CA356811424 | GABRB1 | c.908T>A (p.Val303Asp) c.887T>A (p.Val296Asp) c.257T>A (p.Val86Asp) c.809T>A (p.Val270Asp) | |
| 4 | g.47406754T>C | CA356811425 | GABRB1 | c.908T>C (p.Val303Ala) c.887T>C (p.Val296Ala) c.257T>C (p.Val86Ala) c.809T>C (p.Val270Ala) | |
| 4 | g.47406754T>G | CA356811426 | GABRB1 | c.908T>G (p.Val303Gly) c.887T>G (p.Val296Gly) c.257T>G (p.Val86Gly) c.809T>G (p.Val270Gly) | |
| 4 | g.47406755C>A | CA439245778 | GABRB1 | c.909C>A (p.Val303=) c.888C>A (p.Val296=) c.258C>A (p.Val86=) c.810C>A (p.Val270=) | |
| 4 | g.47406755C>G | CA439245779 | GABRB1 | c.909C>G (p.Val303=) c.888C>G (p.Val296=) c.258C>G (p.Val86=) c.810C>G (p.Val270=) | |
| 4 | g.47406755C>T | CA439245781 | GABRB1 | c.909C>T (p.Val303=) c.888C>T (p.Val296=) c.258C>T (p.Val86=) c.810C>T (p.Val270=) | |
| 4 | g.47406756A>C | CA356811428 | GABRB1 | c.910A>C (p.Lys304Gln) c.889A>C (p.Lys297Gln) c.259A>C (p.Lys87Gln) c.811A>C (p.Lys271Gln) | COSMIC |
| 4 | g.47406756A>G | CA356811430 | GABRB1 | c.910A>G (p.Lys304Glu) c.889A>G (p.Lys297Glu) c.259A>G (p.Lys87Glu) c.811A>G (p.Lys271Glu) | |
| 4 | g.47406756A>T | CA356811427 | GABRB1 | c.910A>T (p.Lys304Ter) c.889A>T (p.Lys297Ter) c.259A>T (p.Lys87Ter) c.811A>T (p.Lys271Ter) | |
| 4 | g.47406757A>C | CA356811433 | GABRB1 | c.911A>C (p.Lys304Thr) c.890A>C (p.Lys297Thr) c.260A>C (p.Lys87Thr) c.812A>C (p.Lys271Thr) | |
| 4 | g.47406757A>G | CA356811434 | GABRB1 | c.911A>G (p.Lys304Arg) c.890A>G (p.Lys297Arg) c.260A>G (p.Lys87Arg) c.812A>G (p.Lys271Arg) | |
| 4 | g.47406757A>T | CA356811436 | GABRB1 | c.911A>T (p.Lys304Ile) c.890A>T (p.Lys297Ile) c.260A>T (p.Lys87Ile) c.812A>T (p.Lys271Ile) | |
| 4 | g.47406758A= | CA1455320471 | GABRB1 | c.912A= (p.Lys304=) c.891A= (p.Lys297=) c.261A= (p.Lys87=) c.813A= (p.Lys271=) | |
| 4 | g.47406758A>C | CA356811438 | GABRB1 | c.912A>C (p.Lys304Asn) c.891A>C (p.Lys297Asn) c.261A>C (p.Lys87Asn) c.813A>C (p.Lys271Asn) | |
| 4 | g.47406758A>G | CA97302424 | GABRB1 | c.912A>G (p.Lys304=) c.891A>G (p.Lys297=) c.261A>G (p.Lys87=) c.813A>G (p.Lys271=) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.47406758A>T | CA356811440 | GABRB1 | c.912A>T (p.Lys304Asn) c.891A>T (p.Lys297Asn) c.261A>T (p.Lys87Asn) c.813A>T (p.Lys271Asn) | |
| 4 | g.47406759G>A | CA356811446 | GABRB1 | c.913G>A (p.Ala305Thr) c.892G>A (p.Ala298Thr) c.262G>A (p.Ala88Thr) c.814G>A (p.Ala272Thr) | ClinVar |
| 4 | g.47406759G>C | CA356811444 | GABRB1 | c.913G>C (p.Ala305Pro) c.892G>C (p.Ala298Pro) c.262G>C (p.Ala88Pro) c.814G>C (p.Ala272Pro) | |
| 4 | g.47406759G>T | CA356811442 | GABRB1 | c.913G>T (p.Ala305Ser) c.892G>T (p.Ala298Ser) c.262G>T (p.Ala88Ser) c.814G>T (p.Ala272Ser) | |
| 4 | g.47406760C>A | CA356811448 | GABRB1 | c.914C>A (p.Ala305Glu) c.893C>A (p.Ala298Glu) c.263C>A (p.Ala88Glu) c.815C>A (p.Ala272Glu) | gnomAD v4 |
| 4 | g.47406760C= | CA1455320474 | GABRB1 | c.914C= (p.Ala305=) c.893C= (p.Ala298=) c.263C= (p.Ala88=) c.815C= (p.Ala272=) | |
| 4 | g.47406760C>G | CA356811450 | GABRB1 | c.914C>G (p.Ala305Gly) c.893C>G (p.Ala298Gly) c.263C>G (p.Ala88Gly) c.815C>G (p.Ala272Gly) | |
| 4 | g.47406760C>T | CA356811452 | GABRB1 | c.914C>T (p.Ala305Val) c.893C>T (p.Ala298Val) c.263C>T (p.Ala88Val) c.815C>T (p.Ala272Val) | ClinVar dbSNP |
| 4 | g.47406761G>A | CA2907713 | GABRB1 | c.915G>A (p.Ala305=) c.894G>A (p.Ala298=) c.264G>A (p.Ala88=) c.816G>A (p.Ala272=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.47406761G>C | CA439245783 | GABRB1 | c.915G>C (p.Ala305=) c.894G>C (p.Ala298=) c.264G>C (p.Ala88=) c.816G>C (p.Ala272=) | |
| 4 | g.47406761G= | CA1455320478 | GABRB1 | c.915G= (p.Ala305=) c.894G= (p.Ala298=) c.264G= (p.Ala88=) c.816G= (p.Ala272=) | |
| 4 | g.47406761G>T | CA439245785 | GABRB1 | c.915G>T (p.Ala305=) c.894G>T (p.Ala298=) c.264G>T (p.Ala88=) c.816G>T (p.Ala272=) | |
| 4 | g.47406762A>C | CA356811455 | GABRB1 | c.916A>C (p.Ile306Leu) c.895A>C (p.Ile299Leu) c.265A>C (p.Ile89Leu) c.817A>C (p.Ile273Leu) | |
| 4 | g.47406762A>G | CA356811457 | GABRB1 | c.916A>G (p.Ile306Val) c.895A>G (p.Ile299Val) c.265A>G (p.Ile89Val) c.817A>G (p.Ile273Val) | |
| 4 | g.47406762A>T | CA356811458 | GABRB1 | c.916A>T (p.Ile306Phe) c.895A>T (p.Ile299Phe) c.265A>T (p.Ile89Phe) c.817A>T (p.Ile273Phe) | |
| 4 | g.47406763T>A | CA356811460 | GABRB1 | c.917T>A (p.Ile306Asn) c.896T>A (p.Ile299Asn) c.266T>A (p.Ile89Asn) c.818T>A (p.Ile273Asn) | ClinVar |
| 4 | g.47406763T>C | CA356811462 | GABRB1 | c.917T>C (p.Ile306Thr) c.896T>C (p.Ile299Thr) c.266T>C (p.Ile89Thr) c.818T>C (p.Ile273Thr) | |
| 4 | g.47406763T>G | CA356811461 | GABRB1 | c.917T>G (p.Ile306Ser) c.896T>G (p.Ile299Ser) c.266T>G (p.Ile89Ser) c.818T>G (p.Ile273Ser) | |
| 4 | g.47406764T>A | CA439245786 | GABRB1 | c.918T>A (p.Ile306=) c.897T>A (p.Ile299=) c.267T>A (p.Ile89=) c.819T>A (p.Ile273=) | |
| 4 | g.47406764T>C | CA439245787 | GABRB1 | c.918T>C (p.Ile306=) c.897T>C (p.Ile299=) c.267T>C (p.Ile89=) c.819T>C (p.Ile273=) | gnomAD v4 |
| 4 | g.47406764T>G | CA356811464 | GABRB1 | c.918T>G (p.Ile306Met) c.897T>G (p.Ile299Met) c.267T>G (p.Ile89Met) c.819T>G (p.Ile273Met) | |
| 4 | g.47406765G>A | CA356811466 | GABRB1 | c.919G>A (p.Asp307Asn) c.898G>A (p.Asp300Asn) c.268G>A (p.Asp90Asn) c.820G>A (p.Asp274Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 4 | g.47406765G>C | CA356811467 | GABRB1 | c.919G>C (p.Asp307His) c.898G>C (p.Asp300His) c.268G>C (p.Asp90His) c.820G>C (p.Asp274His) | dbSNP |
| 4 | g.47406765G= | CA1455320481 | GABRB1 | c.919G= (p.Asp307=) c.898G= (p.Asp300=) c.268G= (p.Asp90=) c.820G= (p.Asp274=) | |
| 4 | g.47406765G>T | CA356811469 | GABRB1 | c.919G>T (p.Asp307Tyr) c.898G>T (p.Asp300Tyr) c.268G>T (p.Asp90Tyr) c.820G>T (p.Asp274Tyr) | |
| 4 | g.47406766A>C | CA356811471 | GABRB1 | c.920A>C (p.Asp307Ala) c.899A>C (p.Asp300Ala) c.269A>C (p.Asp90Ala) c.821A>C (p.Asp274Ala) | |
| 4 | g.47406766A>G | CA356811473 | GABRB1 | c.920A>G (p.Asp307Gly) c.899A>G (p.Asp300Gly) c.269A>G (p.Asp90Gly) c.821A>G (p.Asp274Gly) | |
| 4 | g.47406766A>T | CA356811474 | GABRB1 | c.920A>T (p.Asp307Val) c.899A>T (p.Asp300Val) c.269A>T (p.Asp90Val) c.821A>T (p.Asp274Val) | gnomAD v4 |
| 4 | g.47406767T>A | CA356811477 | GABRB1 | c.921T>A (p.Asp307Glu) c.900T>A (p.Asp300Glu) c.270T>A (p.Asp90Glu) c.822T>A (p.Asp274Glu) | |
| 4 | g.47406767T>C | CA439245790 | GABRB1 | c.921T>C (p.Asp307=) c.900T>C (p.Asp300=) c.270T>C (p.Asp90=) c.822T>C (p.Asp274=) | |
| 4 | g.47406767T>G | CA356811478 | GABRB1 | c.921T>G (p.Asp307Glu) c.900T>G (p.Asp300Glu) c.270T>G (p.Asp90Glu) c.822T>G (p.Asp274Glu) | |
| 4 | g.47406768A= | CA1455320485 | GABRB1 | c.922A= (p.Ile308=) c.901A= (p.Ile301=) c.271A= (p.Ile91=) c.823A= (p.Ile275=) | |
| 4 | g.47406768A>C | CA356811480 | GABRB1 | c.922A>C (p.Ile308Leu) c.901A>C (p.Ile301Leu) c.271A>C (p.Ile91Leu) c.823A>C (p.Ile275Leu) | |
| 4 | g.47406768A>G | CA356811482 | GABRB1 | c.922A>G (p.Ile308Val) c.901A>G (p.Ile301Val) c.271A>G (p.Ile91Val) c.823A>G (p.Ile275Val) | dbSNP |
| 4 | g.47406768A>T | CA356811484 | GABRB1 | c.922A>T (p.Ile308Phe) c.901A>T (p.Ile301Phe) c.271A>T (p.Ile91Phe) c.823A>T (p.Ile275Phe) | |
| 4 | g.47406769T>A | CA356811486 | GABRB1 | c.923T>A (p.Ile308Asn) c.902T>A (p.Ile301Asn) c.272T>A (p.Ile91Asn) c.824T>A (p.Ile275Asn) | |
| 4 | g.47406769T>C | CA356811490 | GABRB1 | c.923T>C (p.Ile308Thr) c.902T>C (p.Ile301Thr) c.272T>C (p.Ile91Thr) c.824T>C (p.Ile275Thr) | |
| 4 | g.47406769T>G | CA356811488 | GABRB1 | c.923T>G (p.Ile308Ser) c.902T>G (p.Ile301Ser) c.272T>G (p.Ile91Ser) c.824T>G (p.Ile275Ser) | COSMIC |
| 4 | g.47406770T>A | CA439245791 | GABRB1 | c.924T>A (p.Ile308=) c.903T>A (p.Ile301=) c.273T>A (p.Ile91=) c.825T>A (p.Ile275=) | |
| 4 | g.47406770T>C | CA439245792 | GABRB1 | c.924T>C (p.Ile308=) c.903T>C (p.Ile301=) c.273T>C (p.Ile91=) c.825T>C (p.Ile275=) | |
| 4 | g.47406770T>G | CA356811492 | GABRB1 | c.924T>G (p.Ile308Met) c.903T>G (p.Ile301Met) c.273T>G (p.Ile91Met) c.825T>G (p.Ile275Met) | |
| 4 | g.47406771T>A | CA356811494 | GABRB1 | c.925T>A (p.Tyr309Asn) c.904T>A (p.Tyr302Asn) c.274T>A (p.Tyr92Asn) c.826T>A (p.Tyr276Asn) | |
| 4 | g.47406771T>C | CA356811496 | GABRB1 | c.925T>C (p.Tyr309His) c.904T>C (p.Tyr302His) c.274T>C (p.Tyr92His) c.826T>C (p.Tyr276His) | |
| 4 | g.47406771T>G | CA356811498 | GABRB1 | c.925T>G (p.Tyr309Asp) c.904T>G (p.Tyr302Asp) c.274T>G (p.Tyr92Asp) c.826T>G (p.Tyr276Asp) | |
| 4 | g.47406772A>C | CA356811500 | GABRB1 | c.926A>C (p.Tyr309Ser) c.905A>C (p.Tyr302Ser) c.275A>C (p.Tyr92Ser) c.827A>C (p.Tyr276Ser) | |
| 4 | g.47406772A>G | CA356811502 | GABRB1 | c.926A>G (p.Tyr309Cys) c.905A>G (p.Tyr302Cys) c.275A>G (p.Tyr92Cys) c.827A>G (p.Tyr276Cys) | |
| 4 | g.47406772A>T | CA356811504 | GABRB1 | c.926A>T (p.Tyr309Phe) c.905A>T (p.Tyr302Phe) c.275A>T (p.Tyr92Phe) c.827A>T (p.Tyr276Phe) | |
| 4 | g.47406773T>A | CA356811506 | GABRB1 | c.927T>A (p.Tyr309Ter) c.906T>A (p.Tyr302Ter) c.276T>A (p.Tyr92Ter) c.828T>A (p.Tyr276Ter) | |
| 4 | g.47406773T>C | CA439245794 | GABRB1 | c.927T>C (p.Tyr309=) c.906T>C (p.Tyr302=) c.276T>C (p.Tyr92=) c.828T>C (p.Tyr276=) | |
| 4 | g.47406773T>G | CA356811508 | GABRB1 | c.927T>G (p.Tyr309Ter) c.906T>G (p.Tyr302Ter) c.276T>G (p.Tyr92Ter) c.828T>G (p.Tyr276Ter) | |
| 4 | g.47406774C>A | CA2907714 | GABRB1 | c.928C>A (p.Leu310Met) c.907C>A (p.Leu303Met) c.277C>A (p.Leu93Met) c.829C>A (p.Leu277Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406774C= | CA1455320489 | GABRB1 | c.928C= (p.Leu310=) c.907C= (p.Leu303=) c.277C= (p.Leu93=) c.829C= (p.Leu277=) | |
| 4 | g.47406774C>G | CA356811510 | GABRB1 | c.928C>G (p.Leu310Val) c.907C>G (p.Leu303Val) c.277C>G (p.Leu93Val) c.829C>G (p.Leu277Val) | |
| 4 | g.47406774C>T | CA439245795 | GABRB1 | c.928C>T (p.Leu310=) c.907C>T (p.Leu303=) c.277C>T (p.Leu93=) c.829C>T (p.Leu277=) | |
| 4 | g.47406775T>A | CA356811512 | GABRB1 | c.929T>A (p.Leu310Gln) c.908T>A (p.Leu303Gln) c.278T>A (p.Leu93Gln) c.830T>A (p.Leu277Gln) | |
| 4 | g.47406775T>C | CA356811514 | GABRB1 | c.929T>C (p.Leu310Pro) c.908T>C (p.Leu303Pro) c.278T>C (p.Leu93Pro) c.830T>C (p.Leu277Pro) | |
| 4 | g.47406775T>G | CA356811516 | GABRB1 | c.929T>G (p.Leu310Arg) c.908T>G (p.Leu303Arg) c.278T>G (p.Leu93Arg) c.830T>G (p.Leu277Arg) | |
| 4 | g.47406776G>A | CA439245796 | GABRB1 | c.930G>A (p.Leu310=) c.909G>A (p.Leu303=) c.279G>A (p.Leu93=) c.831G>A (p.Leu277=) | |
| 4 | g.47406776G>C | CA439245797 | GABRB1 | c.930G>C (p.Leu310=) c.909G>C (p.Leu303=) c.279G>C (p.Leu93=) c.831G>C (p.Leu277=) | dbSNP |
| 4 | g.47406776G= | CA1455320492 | GABRB1 | c.930G= (p.Leu310=) c.909G= (p.Leu303=) c.279G= (p.Leu93=) c.831G= (p.Leu277=) | |
| 4 | g.47406776G>T | CA2907715 | GABRB1 | c.930G>T (p.Leu310=) c.909G>T (p.Leu303=) c.279G>T (p.Leu93=) c.831G>T (p.Leu277=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406777A>C | CA356811520 | GABRB1 | c.931A>C (p.Met311Leu) c.910A>C (p.Met304Leu) c.280A>C (p.Met94Leu) c.832A>C (p.Met278Leu) | |
| 4 | g.47406777A>G | CA356811521 | GABRB1 | c.931A>G (p.Met311Val) c.910A>G (p.Met304Val) c.280A>G (p.Met94Val) c.832A>G (p.Met278Val) | |
| 4 | g.47406777A>T | CA356811522 | GABRB1 | c.931A>T (p.Met311Leu) c.910A>T (p.Met304Leu) c.280A>T (p.Met94Leu) c.832A>T (p.Met278Leu) | |
| 4 | g.47406778T>A | CA356811525 | GABRB1 | c.932T>A (p.Met311Lys) c.911T>A (p.Met304Lys) c.281T>A (p.Met94Lys) c.833T>A (p.Met278Lys) | |
| 4 | g.47406778T>C | CA356811526 | GABRB1 | c.932T>C (p.Met311Thr) c.911T>C (p.Met304Thr) c.281T>C (p.Met94Thr) c.833T>C (p.Met278Thr) | |
| 4 | g.47406778T>G | CA356811528 | GABRB1 | c.932T>G (p.Met311Arg) c.911T>G (p.Met304Arg) c.281T>G (p.Met94Arg) c.833T>G (p.Met278Arg) | |
| 4 | g.47406779G>A | CA356811530 | GABRB1 | c.933G>A (p.Met311Ile) c.912G>A (p.Met304Ile) c.282G>A (p.Met94Ile) c.834G>A (p.Met278Ile) | |
| 4 | g.47406779G>C | CA356811532 | GABRB1 | c.933G>C (p.Met311Ile) c.912G>C (p.Met304Ile) c.282G>C (p.Met94Ile) c.834G>C (p.Met278Ile) | |
| 4 | g.47406779G= | CA1455320495 | GABRB1 | c.933G= (p.Met311=) c.912G= (p.Met304=) c.282G= (p.Met94=) c.834G= (p.Met278=) | |
| 4 | g.47406779G>T | CA2907716 | GABRB1 | c.933G>T (p.Met311Ile) c.912G>T (p.Met304Ile) c.282G>T (p.Met94Ile) c.834G>T (p.Met278Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 4 | g.47406780G>A | CA356811535 | GABRB1 | c.934G>A (p.Gly312Ser) c.913G>A (p.Gly305Ser) c.283G>A (p.Gly95Ser) c.835G>A (p.Gly279Ser) | |
| 4 | g.47406780G>C | CA356811537 | GABRB1 | c.934G>C (p.Gly312Arg) c.913G>C (p.Gly305Arg) c.283G>C (p.Gly95Arg) c.835G>C (p.Gly279Arg) | |
| 4 | g.47406780G>T | CA356811539 | GABRB1 | c.934G>T (p.Gly312Cys) c.913G>T (p.Gly305Cys) c.283G>T (p.Gly95Cys) c.835G>T (p.Gly279Cys) | |
| 4 | g.47406781G>A | CA356811545 | GABRB1 | c.935G>A (p.Gly312Asp) c.914G>A (p.Gly305Asp) c.284G>A (p.Gly95Asp) c.836G>A (p.Gly279Asp) | gnomAD v4 |
| 4 | g.47406781G>C | CA356811543 | GABRB1 | c.935G>C (p.Gly312Ala) c.914G>C (p.Gly305Ala) c.284G>C (p.Gly95Ala) c.836G>C (p.Gly279Ala) | |
| 4 | g.47406781G>T | CA356811541 | GABRB1 | c.935G>T (p.Gly312Val) c.914G>T (p.Gly305Val) c.284G>T (p.Gly95Val) c.836G>T (p.Gly279Val) | |
| 4 | g.47406782T>A | CA439245801 | GABRB1 | c.936T>A (p.Gly312=) c.915T>A (p.Gly305=) c.285T>A (p.Gly95=) c.837T>A (p.Gly279=) | |
| 4 | g.47406782T>C | CA439245802 | GABRB1 | c.936T>C (p.Gly312=) c.915T>C (p.Gly305=) c.285T>C (p.Gly95=) c.837T>C (p.Gly279=) | |
| 4 | g.47406782T>G | CA439245803 | GABRB1 | c.936T>G (p.Gly312=) c.915T>G (p.Gly305=) c.285T>G (p.Gly95=) c.837T>G (p.Gly279=) | dbSNP |
| 4 | g.47406782T= | CA1455320497 | GABRB1 | c.936T= (p.Gly312=) c.915T= (p.Gly305=) c.285T= (p.Gly95=) c.837T= (p.Gly279=) | |
| 4 | g.47406783T>A | CA356811547 | GABRB1 | c.937T>A (p.Cys313Ser) c.916T>A (p.Cys306Ser) c.286T>A (p.Cys96Ser) c.838T>A (p.Cys280Ser) | |
| 4 | g.47406783T>C | CA356811551 | GABRB1 | c.937T>C (p.Cys313Arg) c.916T>C (p.Cys306Arg) c.286T>C (p.Cys96Arg) c.838T>C (p.Cys280Arg) | gnomAD v4 |
| 4 | g.47406783T>G | CA356811549 | GABRB1 | c.937T>G (p.Cys313Gly) c.916T>G (p.Cys306Gly) c.286T>G (p.Cys96Gly) c.838T>G (p.Cys280Gly) | |
| 4 | g.47406784G>A | CA356811553 | GABRB1 | c.938G>A (p.Cys313Tyr) c.917G>A (p.Cys306Tyr) c.287G>A (p.Cys96Tyr) c.839G>A (p.Cys280Tyr) | |
| 4 | g.47406784G>C | CA356811557 | GABRB1 | c.938G>C (p.Cys313Ser) c.917G>C (p.Cys306Ser) c.287G>C (p.Cys96Ser) c.839G>C (p.Cys280Ser) | |
| 4 | g.47406784G>T | CA356811555 | GABRB1 | c.938G>T (p.Cys313Phe) c.917G>T (p.Cys306Phe) c.287G>T (p.Cys96Phe) c.839G>T (p.Cys280Phe) | |
| 4 | g.47406785C>A | CA356811559 | GABRB1 | c.939C>A (p.Cys313Ter) c.918C>A (p.Cys306Ter) c.288C>A (p.Cys96Ter) c.840C>A (p.Cys280Ter) | |
| 4 | g.47406785C>G | CA356811561 | GABRB1 | c.939C>G (p.Cys313Trp) c.918C>G (p.Cys306Trp) c.288C>G (p.Cys96Trp) c.840C>G (p.Cys280Trp) | |
| 4 | g.47406785C>T | CA439245805 | GABRB1 | c.939C>T (p.Cys313=) c.918C>T (p.Cys306=) c.288C>T (p.Cys96=) c.840C>T (p.Cys280=) | |
| 4 | g.47406786T>A | CA356811563 | GABRB1 | c.940T>A (p.Phe314Ile) c.919T>A (p.Phe307Ile) c.289T>A (p.Phe97Ile) c.841T>A (p.Phe281Ile) | |
| 4 | g.47406786T>C | CA356811565 | GABRB1 | c.940T>C (p.Phe314Leu) c.919T>C (p.Phe307Leu) c.289T>C (p.Phe97Leu) c.841T>C (p.Phe281Leu) | |
| 4 | g.47406786T>G | CA356811566 | GABRB1 | c.940T>G (p.Phe314Val) c.919T>G (p.Phe307Val) c.289T>G (p.Phe97Val) c.841T>G (p.Phe281Val) | |
| 4 | g.47406787T>A | CA356811568 | GABRB1 | c.941T>A (p.Phe314Tyr) c.920T>A (p.Phe307Tyr) c.290T>A (p.Phe97Tyr) c.842T>A (p.Phe281Tyr) | |
| 4 | g.47406787T>C | CA356811570 | GABRB1 | c.941T>C (p.Phe314Ser) c.920T>C (p.Phe307Ser) c.290T>C (p.Phe97Ser) c.842T>C (p.Phe281Ser) | |
| 4 | g.47406787T>G | CA356811572 | GABRB1 | c.941T>G (p.Phe314Cys) c.920T>G (p.Phe307Cys) c.290T>G (p.Phe97Cys) c.842T>G (p.Phe281Cys) | COSMIC |
| 4 | g.47406788T>A | CA356811573 | GABRB1 | c.942T>A (p.Phe314Leu) c.921T>A (p.Phe307Leu) c.291T>A (p.Phe97Leu) c.843T>A (p.Phe281Leu) | |
| 4 | g.47406788T>C | CA439245807 | GABRB1 | c.942T>C (p.Phe314=) c.921T>C (p.Phe307=) c.291T>C (p.Phe97=) c.843T>C (p.Phe281=) | |
| 4 | g.47406788T>G | CA356811575 | GABRB1 | c.942T>G (p.Phe314Leu) c.921T>G (p.Phe307Leu) c.291T>G (p.Phe97Leu) c.843T>G (p.Phe281Leu) | |
| 4 | g.47406789G>A | CA356811580 | GABRB1 | c.943G>A (p.Val315Met) c.922G>A (p.Val308Met) c.292G>A (p.Val98Met) c.844G>A (p.Val282Met) | COSMIC |
| 4 | g.47406789G>C | CA356811578 | GABRB1 | c.943G>C (p.Val315Leu) c.922G>C (p.Val308Leu) c.292G>C (p.Val98Leu) c.844G>C (p.Val282Leu) | |
| 4 | g.47406789G>T | CA356811577 | GABRB1 | c.943G>T (p.Val315Leu) c.922G>T (p.Val308Leu) c.292G>T (p.Val98Leu) c.844G>T (p.Val282Leu) | |
| 4 | g.47406790T>A | CA356811582 | GABRB1 | c.944T>A (p.Val315Glu) c.923T>A (p.Val308Glu) c.293T>A (p.Val98Glu) c.845T>A (p.Val282Glu) | |
| 4 | g.47406790T>C | CA356811584 | GABRB1 | c.944T>C (p.Val315Ala) c.923T>C (p.Val308Ala) c.293T>C (p.Val98Ala) c.845T>C (p.Val282Ala) | |
| 4 | g.47406790T>G | CA356811586 | GABRB1 | c.944T>G (p.Val315Gly) c.923T>G (p.Val308Gly) c.293T>G (p.Val98Gly) c.845T>G (p.Val282Gly) | |
| 4 | g.47406791G>A | CA439245808 | GABRB1 | c.945G>A (p.Val315=) c.924G>A (p.Val308=) c.294G>A (p.Val98=) c.846G>A (p.Val282=) | |
| 4 | g.47406791G>C | CA439245809 | GABRB1 | c.945G>C (p.Val315=) c.924G>C (p.Val308=) c.294G>C (p.Val98=) c.846G>C (p.Val282=) | |
| 4 | g.47406791G>T | CA439245810 | GABRB1 | c.945G>T (p.Val315=) c.924G>T (p.Val308=) c.294G>T (p.Val98=) c.846G>T (p.Val282=) | |
| 4 | g.47406792T>A | CA356811589 | GABRB1 | c.946T>A (p.Phe316Ile) c.925T>A (p.Phe309Ile) c.295T>A (p.Phe99Ile) c.847T>A (p.Phe283Ile) | |
| 4 | g.47406792T>C | CA356811590 | GABRB1 | c.946T>C (p.Phe316Leu) c.925T>C (p.Phe309Leu) c.295T>C (p.Phe99Leu) c.847T>C (p.Phe283Leu) | |
| 4 | g.47406792T>G | CA356811591 | GABRB1 | c.946T>G (p.Phe316Val) c.925T>G (p.Phe309Val) c.295T>G (p.Phe99Val) c.847T>G (p.Phe283Val) | |
| 4 | g.47406793T>A | CA356811593 | GABRB1 | c.947T>A (p.Phe316Tyr) c.926T>A (p.Phe309Tyr) c.296T>A (p.Phe99Tyr) c.848T>A (p.Phe283Tyr) | |
| 4 | g.47406793T>C | CA356811595 | GABRB1 | c.947T>C (p.Phe316Ser) c.926T>C (p.Phe309Ser) c.296T>C (p.Phe99Ser) c.848T>C (p.Phe283Ser) | |
| 4 | g.47406793T>G | CA356811597 | GABRB1 | c.947T>G (p.Phe316Cys) c.926T>G (p.Phe309Cys) c.296T>G (p.Phe99Cys) c.848T>G (p.Phe283Cys) |