| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |