UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161331056C>A | CA362175373 | GABRB2 | c.904G>T (p.Val302Leu) n.986G>T c.*363G>T (n.*363G>T) c.652G>T (p.Val218Leu) c.154G>T (p.Val52Leu) c.424G>T (p.Val142Leu) c.715G>T (p.Val239Leu) | |
| 5 | g.161331056C= | CA1595983870 | GABRB2 | c.904G= (p.Val302=) n.986G= c.*363G= (n.*363G=) c.652G= (p.Val218=) c.154G= (p.Val52=) c.424G= (p.Val142=) c.715G= (p.Val239=) | |
| 5 | g.161331056C>G | CA362175374 | GABRB2 | c.904G>C (p.Val302Leu) n.986G>C c.*363G>C (n.*363G>C) c.652G>C (p.Val218Leu) c.154G>C (p.Val52Leu) c.424G>C (p.Val142Leu) c.715G>C (p.Val239Leu) | |
| 5 | g.161331056C>T | CA362175375 | GABRB2 | c.904G>A (p.Val302Met) n.986G>A c.*363G>A (n.*363G>A) c.652G>A (p.Val218Met) c.154G>A (p.Val52Met) c.424G>A (p.Val142Met) c.715G>A (p.Val239Met) | ClinVar dbSNP |
| 5 | g.161331057A= | CA1595983871 | GABRB2 | c.903T= (p.Tyr301=) n.985T= c.*362T= (n.*362T=) c.651T= (p.Tyr217=) c.153T= (p.Tyr51=) c.423T= (p.Tyr141=) c.714T= (p.Tyr238=) | |
| 5 | g.161331057A>C | CA362175376 | GABRB2 | c.903T>G (p.Tyr301Ter) n.985T>G c.*362T>G (n.*362T>G) c.651T>G (p.Tyr217Ter) c.153T>G (p.Tyr51Ter) c.423T>G (p.Tyr141Ter) c.714T>G (p.Tyr238Ter) | |
| 5 | g.161331057A>G | CA447691511 | GABRB2 | c.903T>C (p.Tyr301=) n.985T>C c.*362T>C (n.*362T>C) c.651T>C (p.Tyr217=) c.153T>C (p.Tyr51=) c.423T>C (p.Tyr141=) c.714T>C (p.Tyr238=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161331057A>T | CA362175377 | GABRB2 | c.903T>A (p.Tyr301Ter) n.985T>A c.*362T>A (n.*362T>A) c.651T>A (p.Tyr217Ter) c.153T>A (p.Tyr51Ter) c.423T>A (p.Tyr141Ter) c.714T>A (p.Tyr238Ter) | |
| 5 | g.161331058T>A | CA362175379 | GABRB2 | c.902A>T (p.Tyr301Phe) n.984A>T c.*361A>T (n.*361A>T) c.650A>T (p.Tyr217Phe) c.152A>T (p.Tyr51Phe) c.422A>T (p.Tyr141Phe) c.713A>T (p.Tyr238Phe) | ClinVar dbSNP |
| 5 | g.161331058T>C | CA16618148 | GABRB2 | c.902A>G (p.Tyr301Cys) n.984A>G c.*361A>G (n.*361A>G) c.650A>G (p.Tyr217Cys) c.152A>G (p.Tyr51Cys) c.422A>G (p.Tyr141Cys) c.713A>G (p.Tyr238Cys) | ClinVar dbSNP |
| 5 | g.161331058T>G | CA362175378 | GABRB2 | c.902A>C (p.Tyr301Ser) n.984A>C c.*361A>C (n.*361A>C) c.650A>C (p.Tyr217Ser) c.152A>C (p.Tyr51Ser) c.422A>C (p.Tyr141Ser) c.713A>C (p.Tyr238Ser) | |
| 5 | g.161331058T= | CA1595983872 | GABRB2 | c.902A= (p.Tyr301=) n.984A= c.*361A= (n.*361A=) c.650A= (p.Tyr217=) c.152A= (p.Tyr51=) c.422A= (p.Tyr141=) c.713A= (p.Tyr238=) | |
| 5 | g.161331059A>C | CA362175380 | GABRB2 | c.901T>G (p.Tyr301Asp) n.983T>G c.*360T>G (n.*360T>G) c.649T>G (p.Tyr217Asp) c.151T>G (p.Tyr51Asp) c.421T>G (p.Tyr141Asp) c.712T>G (p.Tyr238Asp) | |
| 5 | g.161331059A>G | CA362175381 | GABRB2 | c.901T>C (p.Tyr301His) n.983T>C c.*360T>C (n.*360T>C) c.649T>C (p.Tyr217His) c.151T>C (p.Tyr51His) c.421T>C (p.Tyr141His) c.712T>C (p.Tyr238His) | ClinVar dbSNP |
| 5 | g.161331059A>T | CA362175382 | GABRB2 | c.901T>A (p.Tyr301Asn) n.983T>A c.*360T>A (n.*360T>A) c.649T>A (p.Tyr217Asn) c.151T>A (p.Tyr51Asn) c.421T>A (p.Tyr141Asn) c.712T>A (p.Tyr238Asn) | |
| 5 | g.161331060G>A | CA447691513 | GABRB2 | c.900C>T (p.Pro300=) n.982C>T c.*359C>T (n.*359C>T) c.648C>T (p.Pro216=) c.150C>T (p.Pro50=) c.420C>T (p.Pro140=) c.711C>T (p.Pro237=) | |
| 5 | g.161331060G>C | CA447691514 | GABRB2 | c.900C>G (p.Pro300=) n.982C>G c.*359C>G (n.*359C>G) c.648C>G (p.Pro216=) c.150C>G (p.Pro50=) c.420C>G (p.Pro140=) c.711C>G (p.Pro237=) | dbSNP |
| 5 | g.161331060G= | CA1595983873 | GABRB2 | c.900C= (p.Pro300=) n.982C= c.*359C= (n.*359C=) c.648C= (p.Pro216=) c.150C= (p.Pro50=) c.420C= (p.Pro140=) c.711C= (p.Pro237=) | |
| 5 | g.161331060G>T | CA447691515 | GABRB2 | c.900C>A (p.Pro300=) n.982C>A c.*359C>A (n.*359C>A) c.648C>A (p.Pro216=) c.150C>A (p.Pro50=) c.420C>A (p.Pro140=) c.711C>A (p.Pro237=) | |
| 5 | g.161331061G>A | CA362175383 | GABRB2 | c.899C>T (p.Pro300Leu) n.981C>T c.*358C>T (n.*358C>T) c.647C>T (p.Pro216Leu) c.149C>T (p.Pro50Leu) c.419C>T (p.Pro140Leu) c.710C>T (p.Pro237Leu) | ClinVar dbSNP |
| 5 | g.161331061G>C | CA362175384 | GABRB2 | c.899C>G (p.Pro300Arg) n.981C>G c.*358C>G (n.*358C>G) c.647C>G (p.Pro216Arg) c.149C>G (p.Pro50Arg) c.419C>G (p.Pro140Arg) c.710C>G (p.Pro237Arg) | COSMIC COSMIC |
| 5 | g.161331061G= | CA1595983874 | GABRB2 | c.899C= (p.Pro300=) n.981C= c.*358C= (n.*358C=) c.647C= (p.Pro216=) c.149C= (p.Pro50=) c.419C= (p.Pro140=) c.710C= (p.Pro237=) | |
| 5 | g.161331061G>T | CA362175385 | GABRB2 | c.899C>A (p.Pro300His) n.981C>A c.*358C>A (n.*358C>A) c.647C>A (p.Pro216His) c.149C>A (p.Pro50His) c.419C>A (p.Pro140His) c.710C>A (p.Pro237His) | |
| 5 | g.161331062G>A | CA362175386 | GABRB2 | c.898C>T (p.Pro300Ser) n.980C>T c.*357C>T (n.*357C>T) c.646C>T (p.Pro216Ser) c.148C>T (p.Pro50Ser) c.418C>T (p.Pro140Ser) c.709C>T (p.Pro237Ser) | |
| 5 | g.161331062G>C | CA362175387 | GABRB2 | c.898C>G (p.Pro300Ala) n.980C>G c.*357C>G (n.*357C>G) c.646C>G (p.Pro216Ala) c.148C>G (p.Pro50Ala) c.418C>G (p.Pro140Ala) c.709C>G (p.Pro237Ala) | |
| 5 | g.161331062G>T | CA362175388 | GABRB2 | c.898C>A (p.Pro300Thr) n.980C>A c.*357C>A (n.*357C>A) c.646C>A (p.Pro216Thr) c.148C>A (p.Pro50Thr) c.418C>A (p.Pro140Thr) c.709C>A (p.Pro237Thr) | |
| 5 | g.161331063G>A | CA447691519 | GABRB2 | c.897C>T (p.Ile299=) n.979C>T c.*356C>T (n.*356C>T) c.645C>T (p.Ile215=) c.147C>T (p.Ile49=) c.417C>T (p.Ile139=) c.708C>T (p.Ile236=) | |
| 5 | g.161331063G>C | CA362175389 | GABRB2 | c.897C>G (p.Ile299Met) n.979C>G c.*356C>G (n.*356C>G) c.645C>G (p.Ile215Met) c.147C>G (p.Ile49Met) c.417C>G (p.Ile139Met) c.708C>G (p.Ile236Met) | |
| 5 | g.161331063G= | CA1595983875 | GABRB2 | c.897C= (p.Ile299=) n.979C= c.*356C= (n.*356C=) c.645C= (p.Ile215=) c.147C= (p.Ile49=) c.417C= (p.Ile139=) c.708C= (p.Ile236=) | |
| 5 | g.161331063G>T | CA447691521 | GABRB2 | c.897C>A (p.Ile299=) n.979C>A c.*356C>A (n.*356C>A) c.645C>A (p.Ile215=) c.147C>A (p.Ile49=) c.417C>A (p.Ile139=) c.708C>A (p.Ile236=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331064A= | CA1595983876 | GABRB2 | c.896T= (p.Ile299=) n.978T= c.*355T= (n.*355T=) c.644T= (p.Ile215=) c.146T= (p.Ile49=) c.416T= (p.Ile139=) c.707T= (p.Ile236=) | |
| 5 | g.161331064A>C | CA16618149 | GABRB2 | c.896T>G (p.Ile299Ser) n.978T>G c.*355T>G (n.*355T>G) c.644T>G (p.Ile215Ser) c.146T>G (p.Ile49Ser) c.416T>G (p.Ile139Ser) c.707T>G (p.Ile236Ser) | ClinVar dbSNP |
| 5 | g.161331064A>G | CA362175390 | GABRB2 | c.896T>C (p.Ile299Thr) n.978T>C c.*355T>C (n.*355T>C) c.644T>C (p.Ile215Thr) c.146T>C (p.Ile49Thr) c.416T>C (p.Ile139Thr) c.707T>C (p.Ile236Thr) | |
| 5 | g.161331064A>T | CA362175391 | GABRB2 | c.896T>A (p.Ile299Asn) n.978T>A c.*355T>A (n.*355T>A) c.644T>A (p.Ile215Asn) c.146T>A (p.Ile49Asn) c.416T>A (p.Ile139Asn) c.707T>A (p.Ile236Asn) | |
| 5 | g.161331065T>A | CA362175392 | GABRB2 | c.895A>T (p.Ile299Phe) n.977A>T c.*354A>T (n.*354A>T) c.643A>T (p.Ile215Phe) c.145A>T (p.Ile49Phe) c.415A>T (p.Ile139Phe) c.706A>T (p.Ile236Phe) | ClinVar dbSNP |
| 5 | g.161331065T>C | CA362175394 | GABRB2 | c.895A>G (p.Ile299Val) n.977A>G c.*354A>G (n.*354A>G) c.643A>G (p.Ile215Val) c.145A>G (p.Ile49Val) c.415A>G (p.Ile139Val) c.706A>G (p.Ile236Val) | ClinVar dbSNP |
| 5 | g.161331065T>G | CA362175393 | GABRB2 | c.895A>C (p.Ile299Leu) n.977A>C c.*354A>C (n.*354A>C) c.643A>C (p.Ile215Leu) c.145A>C (p.Ile49Leu) c.415A>C (p.Ile139Leu) c.706A>C (p.Ile236Leu) | |
| 5 | g.161331065T= | CA1595983877 | GABRB2 | c.895A= (p.Ile299=) n.977A= c.*354A= (n.*354A=) c.643A= (p.Ile215=) c.145A= (p.Ile49=) c.415A= (p.Ile139=) c.706A= (p.Ile236=) | |
| 5 | g.161331066T>A | CA362175395 | GABRB2 | c.894A>T (p.Lys298Asn) n.976A>T c.*353A>T (n.*353A>T) c.642A>T (p.Lys214Asn) c.144A>T (p.Lys48Asn) c.414A>T (p.Lys138Asn) c.705A>T (p.Lys235Asn) | |
| 5 | g.161331066T>C | CA447691527 | GABRB2 | c.894A>G (p.Lys298=) n.976A>G c.*353A>G (n.*353A>G) c.642A>G (p.Lys214=) c.144A>G (p.Lys48=) c.414A>G (p.Lys138=) c.705A>G (p.Lys235=) | |
| 5 | g.161331066T>G | CA362175396 | GABRB2 | c.894A>C (p.Lys298Asn) n.976A>C c.*353A>C (n.*353A>C) c.642A>C (p.Lys214Asn) c.144A>C (p.Lys48Asn) c.414A>C (p.Lys138Asn) c.705A>C (p.Lys235Asn) | |
| 5 | g.161331067T>A | CA362175397 | GABRB2 | c.893A>T (p.Lys298Ile) n.975A>T c.*352A>T (n.*352A>T) c.641A>T (p.Lys214Ile) c.143A>T (p.Lys48Ile) c.413A>T (p.Lys138Ile) c.704A>T (p.Lys235Ile) | |
| 5 | g.161331067T>C | CA362175398 | GABRB2 | c.893A>G (p.Lys298Arg) n.975A>G c.*352A>G (n.*352A>G) c.641A>G (p.Lys214Arg) c.143A>G (p.Lys48Arg) c.413A>G (p.Lys138Arg) c.704A>G (p.Lys235Arg) | |
| 5 | g.161331067T>G | CA362175399 | GABRB2 | c.893A>C (p.Lys298Thr) n.975A>C c.*352A>C (n.*352A>C) c.641A>C (p.Lys214Thr) c.143A>C (p.Lys48Thr) c.413A>C (p.Lys138Thr) c.704A>C (p.Lys235Thr) | |
| 5 | g.161331068T>A | CA362175400 | GABRB2 | c.892A>T (p.Lys298Ter) n.974A>T c.*351A>T (n.*351A>T) c.640A>T (p.Lys214Ter) c.142A>T (p.Lys48Ter) c.412A>T (p.Lys138Ter) c.703A>T (p.Lys235Ter) | |
| 5 | g.161331068T>C | CA362175401 | GABRB2 | c.892A>G (p.Lys298Glu) n.974A>G c.*351A>G (n.*351A>G) c.640A>G (p.Lys214Glu) c.142A>G (p.Lys48Glu) c.412A>G (p.Lys138Glu) c.703A>G (p.Lys235Glu) | |
| 5 | g.161331068T>G | CA362175402 | GABRB2 | c.892A>C (p.Lys298Gln) n.974A>C c.*351A>C (n.*351A>C) c.640A>C (p.Lys214Gln) c.142A>C (p.Lys48Gln) c.412A>C (p.Lys138Gln) c.703A>C (p.Lys235Gln) | |
| 5 | g.161331069A>C | CA447691533 | GABRB2 | c.891T>G (p.Pro297=) n.973T>G c.*350T>G (n.*350T>G) c.639T>G (p.Pro213=) c.141T>G (p.Pro47=) c.411T>G (p.Pro137=) c.702T>G (p.Pro234=) | |
| 5 | g.161331069A>G | CA447691534 | GABRB2 | c.891T>C (p.Pro297=) n.973T>C c.*350T>C (n.*350T>C) c.639T>C (p.Pro213=) c.141T>C (p.Pro47=) c.411T>C (p.Pro137=) c.702T>C (p.Pro234=) | |
| 5 | g.161331069A>T | CA447691535 | GABRB2 | c.891T>A (p.Pro297=) n.973T>A c.*350T>A (n.*350T>A) c.639T>A (p.Pro213=) c.141T>A (p.Pro47=) c.411T>A (p.Pro137=) c.702T>A (p.Pro234=) | |
| 5 | g.161331070G>A | CA362175403 | GABRB2 | c.890C>T (p.Pro297Leu) n.972C>T c.*349C>T (n.*349C>T) c.638C>T (p.Pro213Leu) c.140C>T (p.Pro47Leu) c.410C>T (p.Pro137Leu) c.701C>T (p.Pro234Leu) | |
| 5 | g.161331070G>C | CA362175404 | GABRB2 | c.890C>G (p.Pro297Arg) n.972C>G c.*349C>G (n.*349C>G) c.638C>G (p.Pro213Arg) c.140C>G (p.Pro47Arg) c.410C>G (p.Pro137Arg) c.701C>G (p.Pro234Arg) | |
| 5 | g.161331070G>T | CA362175405 | GABRB2 | c.890C>A (p.Pro297His) n.972C>A c.*349C>A (n.*349C>A) c.638C>A (p.Pro213His) c.140C>A (p.Pro47His) c.410C>A (p.Pro137His) c.701C>A (p.Pro234His) | |
| 5 | g.161331071G>A | CA362175408 | GABRB2 | c.889C>T (p.Pro297Ser) n.971C>T c.*348C>T (n.*348C>T) c.637C>T (p.Pro213Ser) c.139C>T (p.Pro47Ser) c.409C>T (p.Pro137Ser) c.700C>T (p.Pro234Ser) | |
| 5 | g.161331071G>C | CA362175407 | GABRB2 | c.889C>G (p.Pro297Ala) n.971C>G c.*348C>G (n.*348C>G) c.637C>G (p.Pro213Ala) c.139C>G (p.Pro47Ala) c.409C>G (p.Pro137Ala) c.700C>G (p.Pro234Ala) | |
| 5 | g.161331071G>T | CA362175406 | GABRB2 | c.889C>A (p.Pro297Thr) n.971C>A c.*348C>A (n.*348C>A) c.637C>A (p.Pro213Thr) c.139C>A (p.Pro47Thr) c.409C>A (p.Pro137Thr) c.700C>A (p.Pro234Thr) | |
| 5 | g.161331072G>A | CA447691541 | GABRB2 | c.888C>T (p.Leu296=) n.970C>T c.*347C>T (n.*347C>T) c.636C>T (p.Leu212=) c.138C>T (p.Leu46=) c.408C>T (p.Leu136=) c.699C>T (p.Leu233=) | |
| 5 | g.161331072G>C | CA447691542 | GABRB2 | c.888C>G (p.Leu296=) n.970C>G c.*347C>G (n.*347C>G) c.636C>G (p.Leu212=) c.138C>G (p.Leu46=) c.408C>G (p.Leu136=) c.699C>G (p.Leu233=) | |
| 5 | g.161331072G>T | CA447691543 | GABRB2 | c.888C>A (p.Leu296=) n.970C>A c.*347C>A (n.*347C>A) c.636C>A (p.Leu212=) c.138C>A (p.Leu46=) c.408C>A (p.Leu136=) c.699C>A (p.Leu233=) | |
| 5 | g.161331073A>C | CA362175409 | GABRB2 | c.887T>G (p.Leu296Arg) n.969T>G c.*346T>G (n.*346T>G) c.635T>G (p.Leu212Arg) c.137T>G (p.Leu46Arg) c.407T>G (p.Leu136Arg) c.698T>G (p.Leu233Arg) | |
| 5 | g.161331073A>G | CA362175410 | GABRB2 | c.887T>C (p.Leu296Pro) n.969T>C c.*346T>C (n.*346T>C) c.635T>C (p.Leu212Pro) c.137T>C (p.Leu46Pro) c.407T>C (p.Leu136Pro) c.698T>C (p.Leu233Pro) | |
| 5 | g.161331073A>T | CA362175411 | GABRB2 | c.887T>A (p.Leu296His) n.969T>A c.*346T>A (n.*346T>A) c.635T>A (p.Leu212His) c.137T>A (p.Leu46His) c.407T>A (p.Leu136His) c.698T>A (p.Leu233His) | |
| 5 | g.161331074G>A | CA362175412 | GABRB2 | c.886C>T (p.Leu296Phe) n.968C>T c.*345C>T (n.*345C>T) c.634C>T (p.Leu212Phe) c.136C>T (p.Leu46Phe) c.406C>T (p.Leu136Phe) c.697C>T (p.Leu233Phe) | |
| 5 | g.161331074G>C | CA362175413 | GABRB2 | c.886C>G (p.Leu296Val) n.968C>G c.*345C>G (n.*345C>G) c.634C>G (p.Leu212Val) c.136C>G (p.Leu46Val) c.406C>G (p.Leu136Val) c.697C>G (p.Leu233Val) | |
| 5 | g.161331074G>T | CA362175414 | GABRB2 | c.886C>A (p.Leu296Ile) n.968C>A c.*345C>A (n.*345C>A) c.634C>A (p.Leu212Ile) c.136C>A (p.Leu46Ile) c.406C>A (p.Leu136Ile) c.697C>A (p.Leu233Ile) | |
| 5 | g.161331075A= | CA1595983878 | GABRB2 | c.885T= (p.Thr295=) n.967T= c.*344T= (n.*344T=) c.633T= (p.Thr211=) c.135T= (p.Thr45=) c.405T= (p.Thr135=) c.696T= (p.Thr232=) | |
| 5 | g.161331075A>C | CA447691548 | GABRB2 | c.885T>G (p.Thr295=) n.967T>G c.*344T>G (n.*344T>G) c.633T>G (p.Thr211=) c.135T>G (p.Thr45=) c.405T>G (p.Thr135=) c.696T>G (p.Thr232=) | |
| 5 | g.161331075A>G | CA3543458 | GABRB2 | c.885T>C (p.Thr295=) n.967T>C c.*344T>C (n.*344T>C) c.633T>C (p.Thr211=) c.135T>C (p.Thr45=) c.405T>C (p.Thr135=) c.696T>C (p.Thr232=) | dbSNP ExAC gnomAD v2 |
| 5 | g.161331075A>T | CA447691553 | GABRB2 | c.885T>A (p.Thr295=) n.967T>A c.*344T>A (n.*344T>A) c.633T>A (p.Thr211=) c.135T>A (p.Thr45=) c.405T>A (p.Thr135=) c.696T>A (p.Thr232=) | |
| 5 | g.161331076G>A | CA362175415 | GABRB2 | c.884C>T (p.Thr295Ile) n.966C>T c.*343C>T (n.*343C>T) c.632C>T (p.Thr211Ile) c.134C>T (p.Thr45Ile) c.404C>T (p.Thr135Ile) c.695C>T (p.Thr232Ile) | |
| 5 | g.161331076G>C | CA362175416 | GABRB2 | c.884C>G (p.Thr295Ser) n.966C>G c.*343C>G (n.*343C>G) c.632C>G (p.Thr211Ser) c.134C>G (p.Thr45Ser) c.404C>G (p.Thr135Ser) c.695C>G (p.Thr232Ser) | |
| 5 | g.161331076G>T | CA362175417 | GABRB2 | c.884C>A (p.Thr295Asn) n.966C>A c.*343C>A (n.*343C>A) c.632C>A (p.Thr211Asn) c.134C>A (p.Thr45Asn) c.404C>A (p.Thr135Asn) c.695C>A (p.Thr232Asn) | |
| 5 | g.161331077T>A | CA362175418 | GABRB2 | c.883A>T (p.Thr295Ser) n.965A>T c.*342A>T (n.*342A>T) c.631A>T (p.Thr211Ser) c.133A>T (p.Thr45Ser) c.403A>T (p.Thr135Ser) c.694A>T (p.Thr232Ser) | |
| 5 | g.161331077T>C | CA362175419 | GABRB2 | c.883A>G (p.Thr295Ala) n.965A>G c.*342A>G (n.*342A>G) c.631A>G (p.Thr211Ala) c.133A>G (p.Thr45Ala) c.403A>G (p.Thr135Ala) c.694A>G (p.Thr232Ala) | gnomAD v4 |
| 5 | g.161331077T>G | CA362175420 | GABRB2 | c.883A>C (p.Thr295Pro) n.965A>C c.*342A>C (n.*342A>C) c.631A>C (p.Thr211Pro) c.133A>C (p.Thr45Pro) c.403A>C (p.Thr135Pro) c.694A>C (p.Thr232Pro) | |
| 5 | g.161331078T>A | CA362175422 | GABRB2 | c.882A>T (p.Glu294Asp) n.964A>T c.*341A>T (n.*341A>T) c.630A>T (p.Glu210Asp) c.132A>T (p.Glu44Asp) c.402A>T (p.Glu134Asp) c.693A>T (p.Glu231Asp) | |
| 5 | g.161331078T>C | CA447691558 | GABRB2 | c.882A>G (p.Glu294=) n.964A>G c.*341A>G (n.*341A>G) c.630A>G (p.Glu210=) c.132A>G (p.Glu44=) c.402A>G (p.Glu134=) c.693A>G (p.Glu231=) | |
| 5 | g.161331078T>G | CA362175421 | GABRB2 | c.882A>C (p.Glu294Asp) n.964A>C c.*341A>C (n.*341A>C) c.630A>C (p.Glu210Asp) c.132A>C (p.Glu44Asp) c.402A>C (p.Glu134Asp) c.693A>C (p.Glu231Asp) | |
| 5 | g.161331079T>A | CA362175423 | GABRB2 | c.881A>T (p.Glu294Val) n.963A>T c.*340A>T (n.*340A>T) c.629A>T (p.Glu210Val) c.131A>T (p.Glu44Val) c.401A>T (p.Glu134Val) c.692A>T (p.Glu231Val) | |
| 5 | g.161331079T>C | CA131019993 | GABRB2 | c.881A>G (p.Glu294Gly) n.963A>G c.*340A>G (n.*340A>G) c.629A>G (p.Glu210Gly) c.131A>G (p.Glu44Gly) c.401A>G (p.Glu134Gly) c.692A>G (p.Glu231Gly) | ClinVar dbSNP |
| 5 | g.161331079T>G | CA362175424 | GABRB2 | c.881A>C (p.Glu294Ala) n.963A>C c.*340A>C (n.*340A>C) c.629A>C (p.Glu210Ala) c.131A>C (p.Glu44Ala) c.401A>C (p.Glu134Ala) c.692A>C (p.Glu231Ala) | |
| 5 | g.161331079T= | CA1595983879 | GABRB2 | c.881A= (p.Glu294=) n.963A= c.*340A= (n.*340A=) c.629A= (p.Glu210=) c.131A= (p.Glu44=) c.401A= (p.Glu134=) c.692A= (p.Glu231=) | |
| 5 | g.161331080C>A | CA362175425 | GABRB2 | c.880G>T (p.Glu294Ter) n.962G>T c.*339G>T (n.*339G>T) c.628G>T (p.Glu210Ter) c.130G>T (p.Glu44Ter) c.400G>T (p.Glu134Ter) c.691G>T (p.Glu231Ter) | |
| 5 | g.161331080C>G | CA362175426 | GABRB2 | c.880G>C (p.Glu294Gln) n.962G>C c.*339G>C (n.*339G>C) c.628G>C (p.Glu210Gln) c.130G>C (p.Glu44Gln) c.400G>C (p.Glu134Gln) c.691G>C (p.Glu231Gln) | |
| 5 | g.161331080C>T | CA362175427 | GABRB2 | c.880G>A (p.Glu294Lys) n.962G>A c.*339G>A (n.*339G>A) c.628G>A (p.Glu210Lys) c.130G>A (p.Glu44Lys) c.400G>A (p.Glu134Lys) c.691G>A (p.Glu231Lys) | COSMIC COSMIC |
| 5 | g.161331082dup | CA2739272771 | GABRB2 | c.880dup (p.Glu294GlyfsTer5) n.962dup c.*339dup (n.*339dup) c.628dup (p.Glu210GlyfsTer5) c.130dup (p.Glu44GlyfsTer5) c.400dup (p.Glu134GlyfsTer5) c.691dup (p.Glu231GlyfsTer5) | ClinVar |
| 5 | g.161331081C>A | CA447691566 | GABRB2 | c.879G>T (p.Arg293=) n.961G>T c.*338G>T (n.*338G>T) c.627G>T (p.Arg209=) c.129G>T (p.Arg43=) c.399G>T (p.Arg133=) c.690G>T (p.Arg230=) | |
| 5 | g.161331081C>G | CA447691565 | GABRB2 | c.879G>C (p.Arg293=) n.961G>C c.*338G>C (n.*338G>C) c.627G>C (p.Arg209=) c.129G>C (p.Arg43=) c.399G>C (p.Arg133=) c.690G>C (p.Arg230=) | |
| 5 | g.161331081C>T | CA447691564 | GABRB2 | c.879G>A (p.Arg293=) n.961G>A c.*338G>A (n.*338G>A) c.627G>A (p.Arg209=) c.129G>A (p.Arg43=) c.399G>A (p.Arg133=) c.690G>A (p.Arg230=) | COSMIC COSMIC |
| 5 | g.161331082C>A | CA362175428 | GABRB2 | c.878G>T (p.Arg293Leu) n.960G>T c.*337G>T (n.*337G>T) c.626G>T (p.Arg209Leu) c.128G>T (p.Arg43Leu) c.398G>T (p.Arg133Leu) c.689G>T (p.Arg230Leu) | gnomAD v4 |
| 5 | g.161331082C= | CA1595983880 | GABRB2 | c.878G= (p.Arg293=) n.960G= c.*337G= (n.*337G=) c.626G= (p.Arg209=) c.128G= (p.Arg43=) c.398G= (p.Arg133=) c.689G= (p.Arg230=) | |
| 5 | g.161331082C>G | CA362175429 | GABRB2 | c.878G>C (p.Arg293Pro) n.960G>C c.*337G>C (n.*337G>C) c.626G>C (p.Arg209Pro) c.128G>C (p.Arg43Pro) c.398G>C (p.Arg133Pro) c.689G>C (p.Arg230Pro) | ClinVar |
| 5 | g.161331082C>T | CA362175430 | GABRB2 | c.878G>A (p.Arg293Gln) n.960G>A c.*337G>A (n.*337G>A) c.626G>A (p.Arg209Gln) c.128G>A (p.Arg43Gln) c.398G>A (p.Arg133Gln) c.689G>A (p.Arg230Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161331083G>A | CA362175431 | GABRB2 | c.877C>T (p.Arg293Trp) n.959C>T c.*336C>T (n.*336C>T) c.625C>T (p.Arg209Trp) c.127C>T (p.Arg43Trp) c.397C>T (p.Arg133Trp) c.688C>T (p.Arg230Trp) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161331083G>C | CA362175432 | GABRB2 | c.877C>G (p.Arg293Gly) n.959C>G c.*336C>G (n.*336C>G) c.625C>G (p.Arg209Gly) c.127C>G (p.Arg43Gly) c.397C>G (p.Arg133Gly) c.688C>G (p.Arg230Gly) | dbSNP |
| 5 | g.161331083G= | CA1595983881 | GABRB2 | c.877C= (p.Arg293=) n.959C= c.*336C= (n.*336C=) c.625C= (p.Arg209=) c.127C= (p.Arg43=) c.397C= (p.Arg133=) c.688C= (p.Arg230=) | |
| 5 | g.161331083G>T | CA447691569 | GABRB2 | c.877C>A (p.Arg293=) n.959C>A c.*336C>A (n.*336C>A) c.625C>A (p.Arg209=) c.127C>A (p.Arg43=) c.397C>A (p.Arg133=) c.688C>A (p.Arg230=) | gnomAD v4 |
| 5 | g.161331084G>A | CA447691572 | GABRB2 | c.876C>T (p.Leu292=) n.958C>T c.*335C>T (n.*335C>T) c.624C>T (p.Leu208=) c.126C>T (p.Leu42=) c.396C>T (p.Leu132=) c.687C>T (p.Leu229=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161331084G>C | CA447691575 | GABRB2 | c.876C>G (p.Leu292=) n.958C>G c.*335C>G (n.*335C>G) c.624C>G (p.Leu208=) c.126C>G (p.Leu42=) c.396C>G (p.Leu132=) c.687C>G (p.Leu229=) | |
| 5 | g.161331084G= | CA1595983882 | GABRB2 | c.876C= (p.Leu292=) n.958C= c.*335C= (n.*335C=) c.624C= (p.Leu208=) c.126C= (p.Leu42=) c.396C= (p.Leu132=) c.687C= (p.Leu229=) | |
| 5 | g.161331084G>T | CA447691574 | GABRB2 | c.876C>A (p.Leu292=) n.958C>A c.*335C>A (n.*335C>A) c.624C>A (p.Leu208=) c.126C>A (p.Leu42=) c.396C>A (p.Leu132=) c.687C>A (p.Leu229=) | |
| 5 | g.161331085A>C | CA362175433 | GABRB2 | c.875T>G (p.Leu292Arg) n.957T>G c.*334T>G (n.*334T>G) c.623T>G (p.Leu208Arg) c.125T>G (p.Leu42Arg) c.395T>G (p.Leu132Arg) c.686T>G (p.Leu229Arg) | |
| 5 | g.161331085A>G | CA362175434 | GABRB2 | c.875T>C (p.Leu292Pro) n.957T>C c.*334T>C (n.*334T>C) c.623T>C (p.Leu208Pro) c.125T>C (p.Leu42Pro) c.395T>C (p.Leu132Pro) c.686T>C (p.Leu229Pro) | |
| 5 | g.161331085A>T | CA362175435 | GABRB2 | c.875T>A (p.Leu292His) n.957T>A c.*334T>A (n.*334T>A) c.623T>A (p.Leu208His) c.125T>A (p.Leu42His) c.395T>A (p.Leu132His) c.686T>A (p.Leu229His) | |
| 5 | g.161331086G>A | CA362175436 | GABRB2 | c.874C>T (p.Leu292Phe) n.956C>T c.*333C>T (n.*333C>T) c.622C>T (p.Leu208Phe) c.124C>T (p.Leu42Phe) c.394C>T (p.Leu132Phe) c.685C>T (p.Leu229Phe) | |
| 5 | g.161331086G>C | CA362175437 | GABRB2 | c.874C>G (p.Leu292Val) n.956C>G c.*333C>G (n.*333C>G) c.622C>G (p.Leu208Val) c.124C>G (p.Leu42Val) c.394C>G (p.Leu132Val) c.685C>G (p.Leu229Val) | |
| 5 | g.161331086G>T | CA362175438 | GABRB2 | c.874C>A (p.Leu292Ile) n.956C>A c.*333C>A (n.*333C>A) c.622C>A (p.Leu208Ile) c.124C>A (p.Leu42Ile) c.394C>A (p.Leu132Ile) c.685C>A (p.Leu229Ile) | |
| 5 | g.161331087G>A | CA447691580 | GABRB2 | c.873C>T (p.His291=) n.955C>T c.*332C>T (n.*332C>T) c.621C>T (p.His207=) c.123C>T (p.His41=) c.393C>T (p.His131=) c.684C>T (p.His228=) | |
| 5 | g.161331087G>C | CA362175440 | GABRB2 | c.873C>G (p.His291Gln) n.955C>G c.*332C>G (n.*332C>G) c.621C>G (p.His207Gln) c.123C>G (p.His41Gln) c.393C>G (p.His131Gln) c.684C>G (p.His228Gln) | |
| 5 | g.161331087G>T | CA362175439 | GABRB2 | c.873C>A (p.His291Gln) n.955C>A c.*332C>A (n.*332C>A) c.621C>A (p.His207Gln) c.123C>A (p.His41Gln) c.393C>A (p.His131Gln) c.684C>A (p.His228Gln) | |
| 5 | g.161331088T>A | CA362175441 | GABRB2 | c.872A>T (p.His291Leu) n.954A>T c.*331A>T (n.*331A>T) c.620A>T (p.His207Leu) c.122A>T (p.His41Leu) c.392A>T (p.His131Leu) c.683A>T (p.His228Leu) | |
| 5 | g.161331088T>C | CA362175442 | GABRB2 | c.872A>G (p.His291Arg) n.954A>G c.*331A>G (n.*331A>G) c.620A>G (p.His207Arg) c.122A>G (p.His41Arg) c.392A>G (p.His131Arg) c.683A>G (p.His228Arg) | COSMIC COSMIC |
| 5 | g.161331088T>G | CA362175443 | GABRB2 | c.872A>C (p.His291Pro) n.954A>C c.*331A>C (n.*331A>C) c.620A>C (p.His207Pro) c.122A>C (p.His41Pro) c.392A>C (p.His131Pro) c.683A>C (p.His228Pro) | |
| 5 | g.161331089G>A | CA362175444 | GABRB2 | c.871C>T (p.His291Tyr) n.953C>T c.*330C>T (n.*330C>T) c.619C>T (p.His207Tyr) c.121C>T (p.His41Tyr) c.391C>T (p.His131Tyr) c.682C>T (p.His228Tyr) | |
| 5 | g.161331089G>C | CA362175445 | GABRB2 | c.871C>G (p.His291Asp) n.953C>G c.*330C>G (n.*330C>G) c.619C>G (p.His207Asp) c.121C>G (p.His41Asp) c.391C>G (p.His131Asp) c.682C>G (p.His228Asp) | |
| 5 | g.161331089G>T | CA362175446 | GABRB2 | c.871C>A (p.His291Asn) n.953C>A c.*330C>A (n.*330C>A) c.619C>A (p.His207Asn) c.121C>A (p.His41Asn) c.391C>A (p.His131Asn) c.682C>A (p.His228Asn) | |
| 5 | g.161331090G>A | CA447691582 | GABRB2 | c.870C>T (p.Thr290=) n.952C>T c.*329C>T (n.*329C>T) c.618C>T (p.Thr206=) c.120C>T (p.Thr40=) c.390C>T (p.Thr130=) c.681C>T (p.Thr227=) | |
| 5 | g.161331090G>C | CA447691583 | GABRB2 | c.870C>G (p.Thr290=) n.952C>G c.*329C>G (n.*329C>G) c.618C>G (p.Thr206=) c.120C>G (p.Thr40=) c.390C>G (p.Thr130=) c.681C>G (p.Thr227=) | |
| 5 | g.161331090G>T | CA447691584 | GABRB2 | c.870C>A (p.Thr290=) n.952C>A c.*329C>A (n.*329C>A) c.618C>A (p.Thr206=) c.120C>A (p.Thr40=) c.390C>A (p.Thr130=) c.681C>A (p.Thr227=) | |
| 5 | g.161331091G>A | CA362175449 | GABRB2 | c.869C>T (p.Thr290Ile) n.951C>T c.*328C>T (n.*328C>T) c.617C>T (p.Thr206Ile) c.119C>T (p.Thr40Ile) c.389C>T (p.Thr130Ile) c.680C>T (p.Thr227Ile) | |
| 5 | g.161331091G>C | CA362175447 | GABRB2 | c.869C>G (p.Thr290Ser) n.951C>G c.*328C>G (n.*328C>G) c.617C>G (p.Thr206Ser) c.119C>G (p.Thr40Ser) c.389C>G (p.Thr130Ser) c.680C>G (p.Thr227Ser) | |
| 5 | g.161331091G>T | CA362175448 | GABRB2 | c.869C>A (p.Thr290Asn) n.951C>A c.*328C>A (n.*328C>A) c.617C>A (p.Thr206Asn) c.119C>A (p.Thr40Asn) c.389C>A (p.Thr130Asn) c.680C>A (p.Thr227Asn) | |
| 5 | g.161331092T>A | CA362175450 | GABRB2 | c.868A>T (p.Thr290Ser) n.950A>T c.*327A>T (n.*327A>T) c.616A>T (p.Thr206Ser) c.118A>T (p.Thr40Ser) c.388A>T (p.Thr130Ser) c.679A>T (p.Thr227Ser) | |
| 5 | g.161331092T>C | CA362175451 | GABRB2 | c.868A>G (p.Thr290Ala) n.950A>G c.*327A>G (n.*327A>G) c.616A>G (p.Thr206Ala) c.118A>G (p.Thr40Ala) c.388A>G (p.Thr130Ala) c.679A>G (p.Thr227Ala) | COSMIC COSMIC |
| 5 | g.161331092T>G | CA362175452 | GABRB2 | c.868A>C (p.Thr290Pro) n.950A>C c.*327A>C (n.*327A>C) c.616A>C (p.Thr206Pro) c.118A>C (p.Thr40Pro) c.388A>C (p.Thr130Pro) c.679A>C (p.Thr227Pro) | |
| 5 | g.161331093G>A | CA447691585 | GABRB2 | c.867C>T (p.Asn289=) n.949C>T c.*326C>T (n.*326C>T) c.615C>T (p.Asn205=) c.117C>T (p.Asn39=) c.387C>T (p.Asn129=) c.678C>T (p.Asn226=) | gnomAD v4 |
| 5 | g.161331093G>C | CA362175453 | GABRB2 | c.867C>G (p.Asn289Lys) n.949C>G c.*326C>G (n.*326C>G) c.615C>G (p.Asn205Lys) c.117C>G (p.Asn39Lys) c.387C>G (p.Asn129Lys) c.678C>G (p.Asn226Lys) | |
| 5 | g.161331093G= | CA1595983883 | GABRB2 | c.867C= (p.Asn289=) n.949C= c.*326C= (n.*326C=) c.615C= (p.Asn205=) c.117C= (p.Asn39=) c.387C= (p.Asn129=) c.678C= (p.Asn226=) | |
| 5 | g.161331093G>T | CA16618150 | GABRB2 | c.867C>A (p.Asn289Lys) n.949C>A c.*326C>A (n.*326C>A) c.615C>A (p.Asn205Lys) c.117C>A (p.Asn39Lys) c.387C>A (p.Asn129Lys) c.678C>A (p.Asn226Lys) | ClinVar dbSNP |
| 5 | g.161331094T>A | CA362175455 | GABRB2 | c.866A>T (p.Asn289Ile) n.948A>T c.*325A>T (n.*325A>T) c.614A>T (p.Asn205Ile) c.116A>T (p.Asn39Ile) c.386A>T (p.Asn129Ile) c.677A>T (p.Asn226Ile) | |
| 5 | g.161331094T>C | CA3543459 | GABRB2 | c.866A>G (p.Asn289Ser) n.948A>G c.*325A>G (n.*325A>G) c.614A>G (p.Asn205Ser) c.116A>G (p.Asn39Ser) c.386A>G (p.Asn129Ser) c.677A>G (p.Asn226Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.161331094T>G | CA362175454 | GABRB2 | c.866A>C (p.Asn289Thr) n.948A>C c.*325A>C (n.*325A>C) c.614A>C (p.Asn205Thr) c.116A>C (p.Asn39Thr) c.386A>C (p.Asn129Thr) c.677A>C (p.Asn226Thr) | |
| 5 | g.161331094T= | CA1595983884 | GABRB2 | c.866A= (p.Asn289=) n.948A= c.*325A= (n.*325A=) c.614A= (p.Asn205=) c.116A= (p.Asn39=) c.386A= (p.Asn129=) c.677A= (p.Asn226=) | |
| 5 | g.161331095T>A | CA362175456 | GABRB2 | c.865A>T (p.Asn289Tyr) n.947A>T c.*324A>T (n.*324A>T) c.613A>T (p.Asn205Tyr) c.115A>T (p.Asn39Tyr) c.385A>T (p.Asn129Tyr) c.676A>T (p.Asn226Tyr) | |
| 5 | g.161331095T>C | CA362175457 | GABRB2 | c.865A>G (p.Asn289Asp) n.947A>G c.*324A>G (n.*324A>G) c.613A>G (p.Asn205Asp) c.115A>G (p.Asn39Asp) c.385A>G (p.Asn129Asp) c.676A>G (p.Asn226Asp) | |
| 5 | g.161331095T>G | CA362175458 | GABRB2 | c.865A>C (p.Asn289His) n.947A>C c.*324A>C (n.*324A>C) c.613A>C (p.Asn205His) c.115A>C (p.Asn39His) c.385A>C (p.Asn129His) c.676A>C (p.Asn226His) | |
| 5 | g.161331096G>A | CA447691589 | GABRB2 | c.864C>T (p.Ile288=) n.946C>T c.*323C>T (n.*323C>T) c.612C>T (p.Ile204=) c.114C>T (p.Ile38=) c.384C>T (p.Ile128=) c.675C>T (p.Ile225=) | |
| 5 | g.161331096G>C | CA362175459 | GABRB2 | c.864C>G (p.Ile288Met) n.946C>G c.*323C>G (n.*323C>G) c.612C>G (p.Ile204Met) c.114C>G (p.Ile38Met) c.384C>G (p.Ile128Met) c.675C>G (p.Ile225Met) | |
| 5 | g.161331096G>T | CA447691590 | GABRB2 | c.864C>A (p.Ile288=) n.946C>A c.*323C>A (n.*323C>A) c.612C>A (p.Ile204=) c.114C>A (p.Ile38=) c.384C>A (p.Ile128=) c.675C>A (p.Ile225=) | |
| 5 | g.161331097A= | CA1595983885 | GABRB2 | c.863T= (p.Ile288=) n.945T= c.*322T= (n.*322T=) c.611T= (p.Ile204=) c.113T= (p.Ile38=) c.383T= (p.Ile128=) c.674T= (p.Ile225=) | |
| 5 | g.161331097A>C | CA362175460 | GABRB2 | c.863T>G (p.Ile288Ser) n.945T>G c.*322T>G (n.*322T>G) c.611T>G (p.Ile204Ser) c.113T>G (p.Ile38Ser) c.383T>G (p.Ile128Ser) c.674T>G (p.Ile225Ser) | |
| 5 | g.161331097A>G | CA16618151 | GABRB2 | c.863T>C (p.Ile288Thr) n.945T>C c.*322T>C (n.*322T>C) c.611T>C (p.Ile204Thr) c.113T>C (p.Ile38Thr) c.383T>C (p.Ile128Thr) c.674T>C (p.Ile225Thr) | ClinVar dbSNP |
| 5 | g.161331097A>T | CA362175461 | GABRB2 | c.863T>A (p.Ile288Asn) n.945T>A c.*322T>A (n.*322T>A) c.611T>A (p.Ile204Asn) c.113T>A (p.Ile38Asn) c.383T>A (p.Ile128Asn) c.674T>A (p.Ile225Asn) | |
| 5 | g.161331098T>A | CA362175462 | GABRB2 | c.862A>T (p.Ile288Phe) n.944A>T c.*321A>T (n.*321A>T) c.610A>T (p.Ile204Phe) c.112A>T (p.Ile38Phe) c.382A>T (p.Ile128Phe) c.673A>T (p.Ile225Phe) | |
| 5 | g.161331098T>C | CA131019994 | GABRB2 | c.862A>G (p.Ile288Val) n.944A>G c.*321A>G (n.*321A>G) c.610A>G (p.Ile204Val) c.112A>G (p.Ile38Val) c.382A>G (p.Ile128Val) c.673A>G (p.Ile225Val) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331098T>G | CA362175463 | GABRB2 | c.862A>C (p.Ile288Leu) n.944A>C c.*321A>C (n.*321A>C) c.610A>C (p.Ile204Leu) c.112A>C (p.Ile38Leu) c.382A>C (p.Ile128Leu) c.673A>C (p.Ile225Leu) | |
| 5 | g.161331098T= | CA1595983886 | GABRB2 | c.862A= (p.Ile288=) n.944A= c.*321A= (n.*321A=) c.610A= (p.Ile204=) c.112A= (p.Ile38=) c.382A= (p.Ile128=) c.673A= (p.Ile225=) | |
| 5 | g.161331099T>A | CA447691595 | GABRB2 | c.861A>T (p.Thr287=) n.943A>T c.*320A>T (n.*320A>T) c.609A>T (p.Thr203=) c.111A>T (p.Thr37=) c.381A>T (p.Thr127=) c.672A>T (p.Thr224=) | |
| 5 | g.161331099T>C | CA447691596 | GABRB2 | c.861A>G (p.Thr287=) n.943A>G c.*320A>G (n.*320A>G) c.609A>G (p.Thr203=) c.111A>G (p.Thr37=) c.381A>G (p.Thr127=) c.672A>G (p.Thr224=) | |
| 5 | g.161331099T>G | CA447691594 | GABRB2 | c.861A>C (p.Thr287=) n.943A>C c.*320A>C (n.*320A>C) c.609A>C (p.Thr203=) c.111A>C (p.Thr37=) c.381A>C (p.Thr127=) c.672A>C (p.Thr224=) | |
| 5 | g.161331100G>A | CA362175464 | GABRB2 | c.860C>T (p.Thr287Ile) n.942C>T c.*319C>T (n.*319C>T) c.608C>T (p.Thr203Ile) c.110C>T (p.Thr37Ile) c.380C>T (p.Thr127Ile) c.671C>T (p.Thr224Ile) | ClinVar dbSNP |
| 5 | g.161331100G>C | CA362175465 | GABRB2 | c.860C>G (p.Thr287Arg) n.942C>G c.*319C>G (n.*319C>G) c.608C>G (p.Thr203Arg) c.110C>G (p.Thr37Arg) c.380C>G (p.Thr127Arg) c.671C>G (p.Thr224Arg) | |
| 5 | g.161331100G= | CA1595983887 | GABRB2 | c.860C= (p.Thr287=) n.942C= c.*319C= (n.*319C=) c.608C= (p.Thr203=) c.110C= (p.Thr37=) c.380C= (p.Thr127=) c.671C= (p.Thr224=) | |
| 5 | g.161331100G>T | CA362175466 | GABRB2 | c.860C>A (p.Thr287Lys) n.942C>A c.*319C>A (n.*319C>A) c.608C>A (p.Thr203Lys) c.110C>A (p.Thr37Lys) c.380C>A (p.Thr127Lys) c.671C>A (p.Thr224Lys) | |
| 5 | g.161331101T>A | CA362175469 | GABRB2 | c.859A>T (p.Thr287Ser) n.941A>T c.*318A>T (n.*318A>T) c.607A>T (p.Thr203Ser) c.109A>T (p.Thr37Ser) c.379A>T (p.Thr127Ser) c.670A>T (p.Thr224Ser) | |
| 5 | g.161331101T>C | CA362175467 | GABRB2 | c.859A>G (p.Thr287Ala) n.941A>G c.*318A>G (n.*318A>G) c.607A>G (p.Thr203Ala) c.109A>G (p.Thr37Ala) c.379A>G (p.Thr127Ala) c.670A>G (p.Thr224Ala) | |
| 5 | g.161331101T>G | CA362175468 | GABRB2 | c.859A>C (p.Thr287Pro) n.941A>C c.*318A>C (n.*318A>C) c.607A>C (p.Thr203Pro) c.109A>C (p.Thr37Pro) c.379A>C (p.Thr127Pro) c.670A>C (p.Thr224Pro) | ClinVar dbSNP |
| 5 | g.161331101T= | CA1595983888 | GABRB2 | c.859A= (p.Thr287=) n.941A= c.*318A= (n.*318A=) c.607A= (p.Thr203=) c.109A= (p.Thr37=) c.379A= (p.Thr127=) c.670A= (p.Thr224=) | |
| 5 | g.161331102G>A | CA447691598 | GABRB2 | c.858C>T (p.Thr286=) n.940C>T c.*317C>T (n.*317C>T) c.606C>T (p.Thr202=) c.108C>T (p.Thr36=) c.378C>T (p.Thr126=) c.669C>T (p.Thr223=) | gnomAD v4 |
| 5 | g.161331102G>C | CA447691600 | GABRB2 | c.858C>G (p.Thr286=) n.940C>G c.*317C>G (n.*317C>G) c.606C>G (p.Thr202=) c.108C>G (p.Thr36=) c.378C>G (p.Thr126=) c.669C>G (p.Thr223=) | |
| 5 | g.161331102G>T | CA447691599 | GABRB2 | c.858C>A (p.Thr286=) n.940C>A c.*317C>A (n.*317C>A) c.606C>A (p.Thr202=) c.108C>A (p.Thr36=) c.378C>A (p.Thr126=) c.669C>A (p.Thr223=) | gnomAD v4 |
| 5 | g.161331103G>A | CA362175470 | GABRB2 | c.857C>T (p.Thr286Ile) n.939C>T c.*316C>T (n.*316C>T) c.605C>T (p.Thr202Ile) c.107C>T (p.Thr36Ile) c.377C>T (p.Thr126Ile) c.668C>T (p.Thr223Ile) | ClinVar dbSNP |
| 5 | g.161331103G>C | CA362175471 | GABRB2 | c.857C>G (p.Thr286Ser) n.939C>G c.*316C>G (n.*316C>G) c.605C>G (p.Thr202Ser) c.107C>G (p.Thr36Ser) c.377C>G (p.Thr126Ser) c.668C>G (p.Thr223Ser) | |
| 5 | g.161331103G= | CA1595983889 | GABRB2 | c.857C= (p.Thr286=) n.939C= c.*316C= (n.*316C=) c.605C= (p.Thr202=) c.107C= (p.Thr36=) c.377C= (p.Thr126=) c.668C= (p.Thr223=) | |
| 5 | g.161331103G>T | CA362175472 | GABRB2 | c.857C>A (p.Thr286Asn) n.939C>A c.*316C>A (n.*316C>A) c.605C>A (p.Thr202Asn) c.107C>A (p.Thr36Asn) c.377C>A (p.Thr126Asn) c.668C>A (p.Thr223Asn) | ClinVar dbSNP |
| 5 | g.161331104T>A | CA362175473 | GABRB2 | c.856A>T (p.Thr286Ser) n.938A>T c.*315A>T (n.*315A>T) c.604A>T (p.Thr202Ser) c.106A>T (p.Thr36Ser) c.376A>T (p.Thr126Ser) c.667A>T (p.Thr223Ser) | |
| 5 | g.161331104T>C | CA362175474 | GABRB2 | c.856A>G (p.Thr286Ala) n.938A>G c.*315A>G (n.*315A>G) c.604A>G (p.Thr202Ala) c.106A>G (p.Thr36Ala) c.376A>G (p.Thr126Ala) c.667A>G (p.Thr223Ala) | |
| 5 | g.161331104T>G | CA362175475 | GABRB2 | c.856A>C (p.Thr286Pro) n.938A>C c.*315A>C (n.*315A>C) c.604A>C (p.Thr202Pro) c.106A>C (p.Thr36Pro) c.376A>C (p.Thr126Pro) c.667A>C (p.Thr223Pro) | |
| 5 | g.161331105C>A | CA362175476 | GABRB2 | c.855G>T (p.Met285Ile) n.937G>T c.*314G>T (n.*314G>T) c.603G>T (p.Met201Ile) c.105G>T (p.Met35Ile) c.375G>T (p.Met125Ile) c.666G>T (p.Met222Ile) | gnomAD v4 |
| 5 | g.161331105C>G | CA362175477 | GABRB2 | c.855G>C (p.Met285Ile) n.937G>C c.*314G>C (n.*314G>C) c.603G>C (p.Met201Ile) c.105G>C (p.Met35Ile) c.375G>C (p.Met125Ile) c.666G>C (p.Met222Ile) | |
| 5 | g.161331105C>T | CA362175478 | GABRB2 | c.855G>A (p.Met285Ile) n.937G>A c.*314G>A (n.*314G>A) c.603G>A (p.Met201Ile) c.105G>A (p.Met35Ile) c.375G>A (p.Met125Ile) c.666G>A (p.Met222Ile) | |
| 5 | g.161331106A>C | CA362175479 | GABRB2 | c.854T>G (p.Met285Arg) n.936T>G c.*313T>G (n.*313T>G) c.602T>G (p.Met201Arg) c.104T>G (p.Met35Arg) c.374T>G (p.Met125Arg) c.665T>G (p.Met222Arg) | |
| 5 | g.161331106A>G | CA362175480 | GABRB2 | c.854T>C (p.Met285Thr) n.936T>C c.*313T>C (n.*313T>C) c.602T>C (p.Met201Thr) c.104T>C (p.Met35Thr) c.374T>C (p.Met125Thr) c.665T>C (p.Met222Thr) | ClinVar |
| 5 | g.161331106A>T | CA362175481 | GABRB2 | c.854T>A (p.Met285Lys) n.936T>A c.*313T>A (n.*313T>A) c.602T>A (p.Met201Lys) c.104T>A (p.Met35Lys) c.374T>A (p.Met125Lys) c.665T>A (p.Met222Lys) | |
| 5 | g.161331107T>A | CA362175482 | GABRB2 | c.853A>T (p.Met285Leu) n.935A>T c.*312A>T (n.*312A>T) c.601A>T (p.Met201Leu) c.103A>T (p.Met35Leu) c.373A>T (p.Met125Leu) c.664A>T (p.Met222Leu) | |
| 5 | g.161331107T>C | CA362175484 | GABRB2 | c.853A>G (p.Met285Val) n.935A>G c.*312A>G (n.*312A>G) c.601A>G (p.Met201Val) c.103A>G (p.Met35Val) c.373A>G (p.Met125Val) c.664A>G (p.Met222Val) | |
| 5 | g.161331107T>G | CA362175483 | GABRB2 | c.853A>C (p.Met285Leu) n.935A>C c.*312A>C (n.*312A>C) c.601A>C (p.Met201Leu) c.103A>C (p.Met35Leu) c.373A>C (p.Met125Leu) c.664A>C (p.Met222Leu) | |
| 5 | g.161331108T>A | CA447691607 | GABRB2 | c.852A>T (p.Thr284=) n.934A>T c.*311A>T (n.*311A>T) c.600A>T (p.Thr200=) c.102A>T (p.Thr34=) c.372A>T (p.Thr124=) c.663A>T (p.Thr221=) | |
| 5 | g.161331108T>C | CA447691608 | GABRB2 | c.852A>G (p.Thr284=) n.934A>G c.*311A>G (n.*311A>G) c.600A>G (p.Thr200=) c.102A>G (p.Thr34=) c.372A>G (p.Thr124=) c.663A>G (p.Thr221=) | |
| 5 | g.161331108T>G | CA447691609 | GABRB2 | c.852A>C (p.Thr284=) n.934A>C c.*311A>C (n.*311A>C) c.600A>C (p.Thr200=) c.102A>C (p.Thr34=) c.372A>C (p.Thr124=) c.663A>C (p.Thr221=) | |
| 5 | g.161331109G>A | CA362175485 | GABRB2 | c.851C>T (p.Thr284Ile) n.933C>T c.*310C>T (n.*310C>T) c.599C>T (p.Thr200Ile) c.101C>T (p.Thr34Ile) c.371C>T (p.Thr124Ile) c.662C>T (p.Thr221Ile) | |
| 5 | g.161331109G>C | CA362175487 | GABRB2 | c.851C>G (p.Thr284Arg) n.933C>G c.*310C>G (n.*310C>G) c.599C>G (p.Thr200Arg) c.101C>G (p.Thr34Arg) c.371C>G (p.Thr124Arg) c.662C>G (p.Thr221Arg) | |
| 5 | g.161331109G>T | CA362175486 | GABRB2 | c.851C>A (p.Thr284Lys) n.933C>A c.*310C>A (n.*310C>A) c.599C>A (p.Thr200Lys) c.101C>A (p.Thr34Lys) c.371C>A (p.Thr124Lys) c.662C>A (p.Thr221Lys) | |
| 5 | g.161331110T>A | CA362175488 | GABRB2 | c.850A>T (p.Thr284Ser) n.932A>T c.*309A>T (n.*309A>T) c.598A>T (p.Thr200Ser) c.100A>T (p.Thr34Ser) c.370A>T (p.Thr124Ser) c.661A>T (p.Thr221Ser) | COSMIC COSMIC |
| 5 | g.161331110T>C | CA362175489 | GABRB2 | c.850A>G (p.Thr284Ala) n.932A>G c.*309A>G (n.*309A>G) c.598A>G (p.Thr200Ala) c.100A>G (p.Thr34Ala) c.370A>G (p.Thr124Ala) c.661A>G (p.Thr221Ala) | ClinVar dbSNP |
| 5 | g.161331110T>G | CA362175490 | GABRB2 | c.850A>C (p.Thr284Pro) n.932A>C c.*309A>C (n.*309A>C) c.598A>C (p.Thr200Pro) c.100A>C (p.Thr34Pro) c.370A>C (p.Thr124Pro) c.661A>C (p.Thr221Pro) | |
| 5 | g.161331110T= | CA1595983890 | GABRB2 | c.850A= (p.Thr284=) n.932A= c.*309A= (n.*309A=) c.598A= (p.Thr200=) c.100A= (p.Thr34=) c.370A= (p.Thr124=) c.661A= (p.Thr221=) | |
| 5 | g.161331111G>A | CA3543460 | GABRB2 | c.849C>T (p.Leu283=) n.931C>T c.*308C>T (n.*308C>T) c.597C>T (p.Leu199=) c.99C>T (p.Leu33=) c.369C>T (p.Leu123=) c.660C>T (p.Leu220=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161331111G>C | CA447691612 | GABRB2 | c.849C>G (p.Leu283=) n.931C>G c.*308C>G (n.*308C>G) c.597C>G (p.Leu199=) c.99C>G (p.Leu33=) c.369C>G (p.Leu123=) c.660C>G (p.Leu220=) | |
| 5 | g.161331111G= | CA1595983891 | GABRB2 | c.849C= (p.Leu283=) n.931C= c.*308C= (n.*308C=) c.597C= (p.Leu199=) c.99C= (p.Leu33=) c.369C= (p.Leu123=) c.660C= (p.Leu220=) | |
| 5 | g.161331111G>T | CA447691611 | GABRB2 | c.849C>A (p.Leu283=) n.931C>A c.*308C>A (n.*308C>A) c.597C>A (p.Leu199=) c.99C>A (p.Leu33=) c.369C>A (p.Leu123=) c.660C>A (p.Leu220=) | |
| 5 | g.161331112A= | CA1595983892 | GABRB2 | c.848T= (p.Leu283=) n.930T= c.*307T= (n.*307T=) c.596T= (p.Leu199=) c.98T= (p.Leu33=) c.368T= (p.Leu123=) c.659T= (p.Leu220=) | |
| 5 | g.161331112A>C | CA362175491 | GABRB2 | c.848T>G (p.Leu283Arg) n.930T>G c.*307T>G (n.*307T>G) c.596T>G (p.Leu199Arg) c.98T>G (p.Leu33Arg) c.368T>G (p.Leu123Arg) c.659T>G (p.Leu220Arg) | |
| 5 | g.161331112A>G | CA362175492 | GABRB2 | c.848T>C (p.Leu283Pro) n.930T>C c.*307T>C (n.*307T>C) c.596T>C (p.Leu199Pro) c.98T>C (p.Leu33Pro) c.368T>C (p.Leu123Pro) c.659T>C (p.Leu220Pro) | ClinVar dbSNP |
| 5 | g.161331112A>T | CA362175493 | GABRB2 | c.848T>A (p.Leu283His) n.930T>A c.*307T>A (n.*307T>A) c.596T>A (p.Leu199His) c.98T>A (p.Leu33His) c.368T>A (p.Leu123His) c.659T>A (p.Leu220His) | |
| 5 | g.161331113G>A | CA362175494 | GABRB2 | c.847C>T (p.Leu283Phe) n.929C>T c.*306C>T (n.*306C>T) c.595C>T (p.Leu199Phe) c.97C>T (p.Leu33Phe) c.367C>T (p.Leu123Phe) c.658C>T (p.Leu220Phe) | |
| 5 | g.161331113G>C | CA362175495 | GABRB2 | c.847C>G (p.Leu283Val) n.929C>G c.*306C>G (n.*306C>G) c.595C>G (p.Leu199Val) c.97C>G (p.Leu33Val) c.367C>G (p.Leu123Val) c.658C>G (p.Leu220Val) | |
| 5 | g.161331113G>T | CA362175496 | GABRB2 | c.847C>A (p.Leu283Ile) n.929C>A c.*306C>A (n.*306C>A) c.595C>A (p.Leu199Ile) c.97C>A (p.Leu33Ile) c.367C>A (p.Leu123Ile) c.658C>A (p.Leu220Ile) | gnomAD v4 |
| 5 | g.161331114G>A | CA447691614 | GABRB2 | c.846C>T (p.Val282=) n.928C>T c.*305C>T (n.*305C>T) c.594C>T (p.Val198=) c.96C>T (p.Val32=) c.366C>T (p.Val122=) c.657C>T (p.Val219=) | |
| 5 | g.161331114G>C | CA447691615 | GABRB2 | c.846C>G (p.Val282=) n.928C>G c.*305C>G (n.*305C>G) c.594C>G (p.Val198=) c.96C>G (p.Val32=) c.366C>G (p.Val122=) c.657C>G (p.Val219=) | gnomAD v4 |
| 5 | g.161331114G>T | CA447691616 | GABRB2 | c.846C>A (p.Val282=) n.928C>A c.*305C>A (n.*305C>A) c.594C>A (p.Val198=) c.96C>A (p.Val32=) c.366C>A (p.Val122=) c.657C>A (p.Val219=) | |
| 5 | g.161331115A= | CA1595983893 | GABRB2 | c.845T= (p.Val282=) n.927T= c.*304T= (n.*304T=) c.593T= (p.Val198=) c.95T= (p.Val32=) c.365T= (p.Val122=) c.656T= (p.Val219=) | |
| 5 | g.161331115A>C | CA362175497 | GABRB2 | c.845T>G (p.Val282Gly) n.927T>G c.*304T>G (n.*304T>G) c.593T>G (p.Val198Gly) c.95T>G (p.Val32Gly) c.365T>G (p.Val122Gly) c.656T>G (p.Val219Gly) | |
| 5 | g.161331115A>G | CA10588396 | GABRB2 | c.845T>C (p.Val282Ala) n.927T>C c.*304T>C (n.*304T>C) c.593T>C (p.Val198Ala) c.95T>C (p.Val32Ala) c.365T>C (p.Val122Ala) c.656T>C (p.Val219Ala) | ClinVar dbSNP |
| 5 | g.161331115A>T | CA362175498 | GABRB2 | c.845T>A (p.Val282Asp) n.927T>A c.*304T>A (n.*304T>A) c.593T>A (p.Val198Asp) c.95T>A (p.Val32Asp) c.365T>A (p.Val122Asp) c.656T>A (p.Val219Asp) | |
| 5 | g.161331116C>A | CA362175499 | GABRB2 | c.844G>T (p.Val282Phe) n.926G>T c.*303G>T (n.*303G>T) c.592G>T (p.Val198Phe) c.94G>T (p.Val32Phe) c.364G>T (p.Val122Phe) c.655G>T (p.Val219Phe) | ClinVar dbSNP |
| 5 | g.161331116C= | CA1595983894 | GABRB2 | c.844G= (p.Val282=) n.926G= c.*303G= (n.*303G=) c.592G= (p.Val198=) c.94G= (p.Val32=) c.364G= (p.Val122=) c.655G= (p.Val219=) | |
| 5 | g.161331116C>G | CA362175501 | GABRB2 | c.844G>C (p.Val282Leu) n.926G>C c.*303G>C (n.*303G>C) c.592G>C (p.Val198Leu) c.94G>C (p.Val32Leu) c.364G>C (p.Val122Leu) c.655G>C (p.Val219Leu) | gnomAD v4 |
| 5 | g.161331116C>T | CA362175500 | GABRB2 | c.844G>A (p.Val282Ile) n.926G>A c.*303G>A (n.*303G>A) c.592G>A (p.Val198Ile) c.94G>A (p.Val32Ile) c.364G>A (p.Val122Ile) c.655G>A (p.Val219Ile) | |
| 5 | g.161331117A>C | CA447691620 | GABRB2 | c.843T>G (p.Thr281=) n.925T>G c.*302T>G (n.*302T>G) c.591T>G (p.Thr197=) c.93T>G (p.Thr31=) c.363T>G (p.Thr121=) c.654T>G (p.Thr218=) | |
| 5 | g.161331117A>G | CA447691621 | GABRB2 | c.843T>C (p.Thr281=) n.925T>C c.*302T>C (n.*302T>C) c.591T>C (p.Thr197=) c.93T>C (p.Thr31=) c.363T>C (p.Thr121=) c.654T>C (p.Thr218=) | |
| 5 | g.161331117A>T | CA447691622 | GABRB2 | c.843T>A (p.Thr281=) n.925T>A c.*302T>A (n.*302T>A) c.591T>A (p.Thr197=) c.93T>A (p.Thr31=) c.363T>A (p.Thr121=) c.654T>A (p.Thr218=) | |
| 5 | g.161331118G>A | CA362175502 | GABRB2 | c.842C>T (p.Thr281Ile) n.924C>T c.*301C>T (n.*301C>T) c.590C>T (p.Thr197Ile) c.92C>T (p.Thr31Ile) c.362C>T (p.Thr121Ile) c.653C>T (p.Thr218Ile) | |
| 5 | g.161331118G>C | CA362175503 | GABRB2 | c.842C>G (p.Thr281Ser) n.924C>G c.*301C>G (n.*301C>G) c.590C>G (p.Thr197Ser) c.92C>G (p.Thr31Ser) c.362C>G (p.Thr121Ser) c.653C>G (p.Thr218Ser) | ClinVar dbSNP |
| 5 | g.161331118G= | CA1595983895 | GABRB2 | c.842C= (p.Thr281=) n.924C= c.*301C= (n.*301C=) c.590C= (p.Thr197=) c.92C= (p.Thr31=) c.362C= (p.Thr121=) c.653C= (p.Thr218=) | |
| 5 | g.161331118G>T | CA362175504 | GABRB2 | c.842C>A (p.Thr281Asn) n.924C>A c.*301C>A (n.*301C>A) c.590C>A (p.Thr197Asn) c.92C>A (p.Thr31Asn) c.362C>A (p.Thr121Asn) c.653C>A (p.Thr218Asn) | |
| 5 | g.161331119T>A | CA362175505 | GABRB2 | c.841A>T (p.Thr281Ser) n.923A>T c.*300A>T (n.*300A>T) c.589A>T (p.Thr197Ser) c.91A>T (p.Thr31Ser) c.361A>T (p.Thr121Ser) c.652A>T (p.Thr218Ser) | |
| 5 | g.161331119T>C | CA362175506 | GABRB2 | c.841A>G (p.Thr281Ala) n.923A>G c.*300A>G (n.*300A>G) c.589A>G (p.Thr197Ala) c.91A>G (p.Thr31Ala) c.361A>G (p.Thr121Ala) c.652A>G (p.Thr218Ala) | ClinVar gnomAD v4 |
| 5 | g.161331119T>G | CA362175507 | GABRB2 | c.841A>C (p.Thr281Pro) n.923A>C c.*300A>C (n.*300A>C) c.589A>C (p.Thr197Pro) c.91A>C (p.Thr31Pro) c.361A>C (p.Thr121Pro) c.652A>C (p.Thr218Pro) | |
| 5 | g.161331120T>A | CA447604968 | GABRB2 | c.840A>T (p.Thr280=) n.922A>T c.*299A>T (n.*299A>T) c.588A>T (p.Thr196=) c.90A>T (p.Thr30=) c.360A>T (p.Thr120=) c.651A>T (p.Thr217=) | |
| 5 | g.161331120T>C | CA447604969 | GABRB2 | c.840A>G (p.Thr280=) n.922A>G c.*299A>G (n.*299A>G) c.588A>G (p.Thr196=) c.90A>G (p.Thr30=) c.360A>G (p.Thr120=) c.651A>G (p.Thr217=) | |
| 5 | g.161331120T>G | CA447604970 | GABRB2 | c.840A>C (p.Thr280=) n.922A>C c.*299A>C (n.*299A>C) c.588A>C (p.Thr196=) c.90A>C (p.Thr30=) c.360A>C (p.Thr120=) c.651A>C (p.Thr217=) | |
| 5 | g.161331122_161331130del | CA2676314817 | GABRB2 | c.833-1_840del n.915-1_922del c.*292-1_*299del c.581-1_588del c.83-1_90del c.353-1_360del c.644-1_651del | gnomAD v4 |
| 5 | g.161331121G>A | CA362175508 | GABRB2 | c.839C>T (p.Thr280Ile) n.921C>T c.*298C>T (n.*298C>T) c.587C>T (p.Thr196Ile) c.89C>T (p.Thr30Ile) c.359C>T (p.Thr120Ile) c.650C>T (p.Thr217Ile) | |
| 5 | g.161331121G>C | CA362175509 | GABRB2 | c.839C>G (p.Thr280Arg) n.921C>G c.*298C>G (n.*298C>G) c.587C>G (p.Thr196Arg) c.89C>G (p.Thr30Arg) c.359C>G (p.Thr120Arg) c.650C>G (p.Thr217Arg) | |
| 5 | g.161331121G>T | CA362175510 | GABRB2 | c.839C>A (p.Thr280Lys) n.921C>A c.*298C>A (n.*298C>A) c.587C>A (p.Thr196Lys) c.89C>A (p.Thr30Lys) c.359C>A (p.Thr120Lys) c.650C>A (p.Thr217Lys) | |
| 5 | g.161331121_161331130del | CA2676314818 | GABRB2 | c.833-3_839del n.915-3_921del c.*292-3_*298del c.581-3_587del c.83-3_89del c.353-3_359del c.644-3_650del | gnomAD v4 |
| 5 | g.161331122T>A | CA362175513 | GABRB2 | c.838A>T (p.Thr280Ser) n.920A>T c.*297A>T (n.*297A>T) c.586A>T (p.Thr196Ser) c.88A>T (p.Thr30Ser) c.358A>T (p.Thr120Ser) c.649A>T (p.Thr217Ser) | gnomAD v4 |
| 5 | g.161331122T>C | CA362175512 | GABRB2 | c.838A>G (p.Thr280Ala) n.920A>G c.*297A>G (n.*297A>G) c.586A>G (p.Thr196Ala) c.88A>G (p.Thr30Ala) c.358A>G (p.Thr120Ala) c.649A>G (p.Thr217Ala) | ClinVar dbSNP |
| 5 | g.161331122T>G | CA362175511 | GABRB2 | c.838A>C (p.Thr280Pro) n.920A>C c.*297A>C (n.*297A>C) c.586A>C (p.Thr196Pro) c.88A>C (p.Thr30Pro) c.358A>C (p.Thr120Pro) c.649A>C (p.Thr217Pro) | |
| 5 | g.161331123G>A | CA447604971 | GABRB2 | c.837C>T (p.Ile279=) n.919C>T c.*296C>T (n.*296C>T) c.585C>T (p.Ile195=) c.87C>T (p.Ile29=) c.357C>T (p.Ile119=) c.648C>T (p.Ile216=) | gnomAD v4 |
| 5 | g.161331123G>C | CA362175514 | GABRB2 | c.837C>G (p.Ile279Met) n.919C>G c.*296C>G (n.*296C>G) c.585C>G (p.Ile195Met) c.87C>G (p.Ile29Met) c.357C>G (p.Ile119Met) c.648C>G (p.Ile216Met) | |
| 5 | g.161331123G>T | CA447604972 | GABRB2 | c.837C>A (p.Ile279=) n.919C>A c.*296C>A (n.*296C>A) c.585C>A (p.Ile195=) c.87C>A (p.Ile29=) c.357C>A (p.Ile119=) c.648C>A (p.Ile216=) | |
| 5 | g.161331124A>C | CA362175515 | GABRB2 | c.836T>G (p.Ile279Ser) n.918T>G c.*295T>G (n.*295T>G) c.584T>G (p.Ile195Ser) c.86T>G (p.Ile29Ser) c.356T>G (p.Ile119Ser) c.647T>G (p.Ile216Ser) | |
| 5 | g.161331124A>G | CA362175516 | GABRB2 | c.836T>C (p.Ile279Thr) n.918T>C c.*295T>C (n.*295T>C) c.584T>C (p.Ile195Thr) c.86T>C (p.Ile29Thr) c.356T>C (p.Ile119Thr) c.647T>C (p.Ile216Thr) | |
| 5 | g.161331124A>T | CA362175517 | GABRB2 | c.836T>A (p.Ile279Asn) n.918T>A c.*295T>A (n.*295T>A) c.584T>A (p.Ile195Asn) c.86T>A (p.Ile29Asn) c.356T>A (p.Ile119Asn) c.647T>A (p.Ile216Asn) | |
| 5 | g.161331125T>A | CA362175518 | GABRB2 | c.835A>T (p.Ile279Phe) n.917A>T c.*294A>T (n.*294A>T) c.583A>T (p.Ile195Phe) c.85A>T (p.Ile29Phe) c.355A>T (p.Ile119Phe) c.646A>T (p.Ile216Phe) | gnomAD v4 |
| 5 | g.161331125T>C | CA362175519 | GABRB2 | c.835A>G (p.Ile279Val) n.917A>G c.*294A>G (n.*294A>G) c.583A>G (p.Ile195Val) c.85A>G (p.Ile29Val) c.355A>G (p.Ile119Val) c.646A>G (p.Ile216Val) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331125T>G | CA362175520 | GABRB2 | c.835A>C (p.Ile279Leu) n.917A>C c.*294A>C (n.*294A>C) c.583A>C (p.Ile195Leu) c.85A>C (p.Ile29Leu) c.355A>C (p.Ile119Leu) c.646A>C (p.Ile216Leu) | |
| 5 | g.161331125T= | CA1595983896 | GABRB2 | c.835A= (p.Ile279=) n.917A= c.*294A= (n.*294A=) c.583A= (p.Ile195=) c.85A= (p.Ile29=) c.355A= (p.Ile119=) c.646A= (p.Ile216=) | |
| 5 | g.161331125_161331129del | CA2769169099 | GABRB2 | c.833-2_835del n.915-2_917del c.*292-2_*294del c.581-2_583del c.83-2_85del c.353-2_355del c.644-2_646del | |
| 5 | g.161331125_161331130del | CA2676314819 | GABRB2 | c.833-3_835del n.915-3_917del c.*292-3_*294del c.581-3_583del c.83-3_85del c.353-3_355del c.644-3_646del | gnomAD v4 |
| 5 | g.161331126T>A | CA447604973 | GABRB2 | c.834A>T (p.Gly278=) n.916A>T c.*293A>T (n.*293A>T) c.582A>T (p.Gly194=) c.84A>T (p.Gly28=) c.354A>T (p.Gly118=) c.645A>T (p.Gly215=) | gnomAD v4 |
| 5 | g.161331126T>C | CA447604974 | GABRB2 | c.834A>G (p.Gly278=) n.916A>G c.*293A>G (n.*293A>G) c.582A>G (p.Gly194=) c.84A>G (p.Gly28=) c.354A>G (p.Gly118=) c.645A>G (p.Gly215=) | |
| 5 | g.161331126T>G | CA447604975 | GABRB2 | c.834A>C (p.Gly278=) n.916A>C c.*293A>C (n.*293A>C) c.582A>C (p.Gly194=) c.84A>C (p.Gly28=) c.354A>C (p.Gly118=) c.645A>C (p.Gly215=) | dbSNP |
| 5 | g.161331126T= | CA1595983897 | GABRB2 | c.834A= (p.Gly278=) n.916A= c.*293A= (n.*293A=) c.582A= (p.Gly194=) c.84A= (p.Gly28=) c.354A= (p.Gly118=) c.645A= (p.Gly215=) | |
| 5 | g.161331126_161331130del | CA2676314820 | GABRB2 | c.833-3_834del n.915-3_916del c.*292-3_*293del c.581-3_582del c.83-3_84del c.353-3_354del c.644-3_645del | gnomAD v4 |
| 5 | g.161331127C>A | CA362175521 | GABRB2 | c.833G>T (p.Gly278Val) n.915G>T c.*292G>T (n.*292G>T) c.581G>T (p.Gly194Val) c.83G>T (p.Gly28Val) c.353G>T (p.Gly118Val) c.644G>T (p.Gly215Val) | gnomAD v4 |
| 5 | g.161331127C>G | CA362175522 | GABRB2 | c.833G>C (p.Gly278Ala) n.915G>C c.*292G>C (n.*292G>C) c.581G>C (p.Gly194Ala) c.83G>C (p.Gly28Ala) c.353G>C (p.Gly118Ala) c.644G>C (p.Gly215Ala) | |
| 5 | g.161331127C>T | CA362175523 | GABRB2 | c.833G>A (p.Gly278Glu) n.915G>A c.*292G>A (n.*292G>A) c.581G>A (p.Gly194Glu) c.83G>A (p.Gly28Glu) c.353G>A (p.Gly118Glu) c.644G>A (p.Gly215Glu) | |
| 5 | g.161331127_161331130del | CA2676314821 | GABRB2 | c.833-3_833del n.915-3_915del c.*292-3_*292del c.581-3_581del c.83-3_83del c.353-3_353del c.644-3_644del | gnomAD v4 |
| 5 | g.161331128C>A | CA362175524 | GABRB2 | c.833-1G>T (n.833-1G>T) n.915-1G>T c.*292-1G>T (n.*292-1G>T) c.581-1G>T (n.581-1G>T) c.83-1G>T (n.83-1G>T) c.353-1G>T (n.353-1G>T) c.644-1G>T (n.644-1G>T) | gnomAD v4 |
| 5 | g.161331128C>G | CA362175525 | GABRB2 | c.833-1G>C (n.833-1G>C) n.915-1G>C c.*292-1G>C (n.*292-1G>C) c.581-1G>C (n.581-1G>C) c.83-1G>C (n.83-1G>C) c.353-1G>C (n.353-1G>C) c.644-1G>C (n.644-1G>C) | |
| 5 | g.161331128C>T | CA362175526 | GABRB2 | c.833-1G>A (n.833-1G>A) n.915-1G>A c.*292-1G>A (n.*292-1G>A) c.581-1G>A (n.581-1G>A) c.83-1G>A (n.83-1G>A) c.353-1G>A (n.353-1G>A) c.644-1G>A (n.644-1G>A) | |
| 5 | g.161331129T>A | CA362175529 | GABRB2 | c.833-2A>T (n.833-2A>T) n.915-2A>T c.*292-2A>T (n.*292-2A>T) c.581-2A>T (n.581-2A>T) c.83-2A>T (n.83-2A>T) c.353-2A>T (n.353-2A>T) c.644-2A>T (n.644-2A>T) | gnomAD v4 |
| 5 | g.161331129T>C | CA362175527 | GABRB2 | c.833-2A>G (n.833-2A>G) n.915-2A>G c.*292-2A>G (n.*292-2A>G) c.581-2A>G (n.581-2A>G) c.83-2A>G (n.83-2A>G) c.353-2A>G (n.353-2A>G) c.644-2A>G (n.644-2A>G) | ClinVar gnomAD v4 |
| 5 | g.161331129T>G | CA362175528 | GABRB2 | c.833-2A>C (n.833-2A>C) n.915-2A>C c.*292-2A>C (n.*292-2A>C) c.581-2A>C (n.581-2A>C) c.83-2A>C (n.83-2A>C) c.353-2A>C (n.353-2A>C) c.644-2A>C (n.644-2A>C) | |
| 5 | g.161331130G>A | CA2676314822 | GABRB2 | c.833-3C>T (n.833-3C>T) n.915-3C>T c.*292-3C>T (n.*292-3C>T) c.581-3C>T (n.581-3C>T) c.83-3C>T (n.83-3C>T) c.353-3C>T (n.353-3C>T) c.644-3C>T (n.644-3C>T) | gnomAD v4 |
| 5 | g.161331130G>T | CA2676314823 | GABRB2 | c.833-3C>A (n.833-3C>A) n.915-3C>A c.*292-3C>A (n.*292-3C>A) c.581-3C>A (n.581-3C>A) c.83-3C>A (n.83-3C>A) c.353-3C>A (n.353-3C>A) c.644-3C>A (n.644-3C>A) | gnomAD v4 |
| 5 | g.161331130_161331131delinsGA | CA1595983898 | GABRB2 | c.833-4_833-3delinsTC (n.833-4_833-3delinsTC) n.915-4_915-3delinsTC c.*292-4_*292-3delinsTC (n.*292-4_*292-3delinsTC) c.581-4_581-3delinsTC (n.581-4_581-3delinsTC) c.83-4_83-3delinsTC (n.83-4_83-3delinsTC) c.353-4_353-3delinsTC (n.353-4_353-3delinsTC) c.644-4_644-3delinsTC (n.644-4_644-3delinsTC) | |
| 5 | g.161331138_161331139insAAAAAAAAA | CA2676314826 | GABRB2 | c.833-4_833-3insTTTTTTTTT (n.833-4_833-3insTTTTTTTTT) n.915-4_915-3insTTTTTTTTT c.*292-4_*292-3insTTTTTTTTT (n.*292-4_*292-3insTTTTTTTTT) c.581-4_581-3insTTTTTTTTT (n.581-4_581-3insTTTTTTTTT) c.83-4_83-3insTTTTTTTTT (n.83-4_83-3insTTTTTTTTT) c.353-4_353-3insTTTTTTTTT (n.353-4_353-3insTTTTTTTTT) c.644-4_644-3insTTTTTTTTT (n.644-4_644-3insTTTTTTTTT) | gnomAD v4 |
| 5 | g.161331138dup | CA3543461 | GABRB2 | c.833-4dup (n.833-4dup) n.915-4dup c.*292-4dup (n.*292-4dup) c.581-4dup (n.581-4dup) c.83-4dup (n.83-4dup) c.353-4dup (n.353-4dup) c.644-4dup (n.644-4dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161331137_161331138dup | CA2676314824 | GABRB2 | c.833-5_833-4dup (n.833-5_833-4dup) n.915-5_915-4dup c.*292-5_*292-4dup (n.*292-5_*292-4dup) c.581-5_581-4dup (n.581-5_581-4dup) c.83-5_83-4dup (n.83-5_83-4dup) c.353-5_353-4dup (n.353-5_353-4dup) c.644-5_644-4dup (n.644-5_644-4dup) | gnomAD v4 |
| 5 | g.161331132_161331138dup | CA2676314825 | GABRB2 | c.833-10_833-4dup (n.833-10_833-4dup) n.915-10_915-4dup c.*292-10_*292-4dup (n.*292-10_*292-4dup) c.581-10_581-4dup (n.581-10_581-4dup) c.83-10_83-4dup (n.83-10_83-4dup) c.353-10_353-4dup (n.353-10_353-4dup) c.644-10_644-4dup (n.644-10_644-4dup) | gnomAD v4 |
| 5 | g.161331138del | CA447604976 | GABRB2 | c.833-4del (n.833-4del) n.915-4del c.*292-4del (n.*292-4del) c.581-4del (n.581-4del) c.83-4del (n.83-4del) c.353-4del (n.353-4del) c.644-4del (n.644-4del) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161331135A= | CA1595983899 | GABRB2 | c.833-8T= (n.833-8T=) n.915-8T= c.*292-8T= (n.*292-8T=) c.581-8T= (n.581-8T=) c.83-8T= (n.83-8T=) c.353-8T= (n.353-8T=) c.644-8T= (n.644-8T=) | |
| 5 | g.161331135A>G | CA1595983900 | GABRB2 | c.833-8T>C (n.833-8T>C) n.915-8T>C c.*292-8T>C (n.*292-8T>C) c.581-8T>C (n.581-8T>C) c.83-8T>C (n.83-8T>C) c.353-8T>C (n.353-8T>C) c.644-8T>C (n.644-8T>C) | dbSNP |
| 5 | g.161331137A= | CA1595983901 | GABRB2 | c.833-10T= (n.833-10T=) n.915-10T= c.*292-10T= (n.*292-10T=) c.581-10T= (n.581-10T=) c.83-10T= (n.83-10T=) c.353-10T= (n.353-10T=) c.644-10T= (n.644-10T=) | |
| 5 | g.161331137A>T | CA1595983902 | GABRB2 | c.833-10T>A (n.833-10T>A) n.915-10T>A c.*292-10T>A (n.*292-10T>A) c.581-10T>A (n.581-10T>A) c.83-10T>A (n.83-10T>A) c.353-10T>A (n.353-10T>A) c.644-10T>A (n.644-10T>A) | dbSNP |
| 5 | g.161331138A= | CA1595983903 | GABRB2 | c.833-11T= (n.833-11T=) n.915-11T= c.*292-11T= (n.*292-11T=) c.581-11T= (n.581-11T=) c.83-11T= (n.83-11T=) c.353-11T= (n.353-11T=) c.644-11T= (n.644-11T=) | |
| 5 | g.161331138A>G | CA1083648463 | GABRB2 | c.833-11T>C (n.833-11T>C) n.915-11T>C c.*292-11T>C (n.*292-11T>C) c.581-11T>C (n.581-11T>C) c.83-11T>C (n.83-11T>C) c.353-11T>C (n.353-11T>C) c.644-11T>C (n.644-11T>C) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331138A>T | CA2573139337 | GABRB2 | c.833-11T>A (n.833-11T>A) n.915-11T>A c.*292-11T>A (n.*292-11T>A) c.581-11T>A (n.581-11T>A) c.83-11T>A (n.83-11T>A) c.353-11T>A (n.353-11T>A) c.644-11T>A (n.644-11T>A) | ClinVar dbSNP |
| 5 | g.161331139T>A | CA2676314827 | GABRB2 | c.833-12A>T (n.833-12A>T) n.915-12A>T c.*292-12A>T (n.*292-12A>T) c.581-12A>T (n.581-12A>T) c.83-12A>T (n.83-12A>T) c.353-12A>T (n.353-12A>T) c.644-12A>T (n.644-12A>T) | gnomAD v4 |
| 5 | g.161331139T>G | CA2676314828 | GABRB2 | c.833-12A>C (n.833-12A>C) n.915-12A>C c.*292-12A>C (n.*292-12A>C) c.581-12A>C (n.581-12A>C) c.83-12A>C (n.83-12A>C) c.353-12A>C (n.353-12A>C) c.644-12A>C (n.644-12A>C) | gnomAD v4 |
| 5 | g.161331140G>A | CA2676314829 | GABRB2 | c.833-13C>T (n.833-13C>T) n.915-13C>T c.*292-13C>T (n.*292-13C>T) c.581-13C>T (n.581-13C>T) c.83-13C>T (n.83-13C>T) c.353-13C>T (n.353-13C>T) c.644-13C>T (n.644-13C>T) | gnomAD v4 |
| 5 | g.161331141G>A | CA2572513200 | GABRB2 | c.833-14C>T (n.833-14C>T) n.915-14C>T c.*292-14C>T (n.*292-14C>T) c.581-14C>T (n.581-14C>T) c.83-14C>T (n.83-14C>T) c.353-14C>T (n.353-14C>T) c.644-14C>T (n.644-14C>T) | ClinVar dbSNP |
| 5 | g.161331141G>C | CA2573139338 | GABRB2 | c.833-14C>G (n.833-14C>G) n.915-14C>G c.*292-14C>G (n.*292-14C>G) c.581-14C>G (n.581-14C>G) c.83-14C>G (n.83-14C>G) c.353-14C>G (n.353-14C>G) c.644-14C>G (n.644-14C>G) | ClinVar dbSNP |
| 5 | g.161331142G>A | CA2578474074 | GABRB2 | c.833-15C>T (n.833-15C>T) n.915-15C>T c.*292-15C>T (n.*292-15C>T) c.581-15C>T (n.581-15C>T) c.83-15C>T (n.83-15C>T) c.353-15C>T (n.353-15C>T) c.644-15C>T (n.644-15C>T) | gnomAD v4 |
| 5 | g.161331142G= | CA1595983904 | GABRB2 | c.833-15C= (n.833-15C=) n.915-15C= c.*292-15C= (n.*292-15C=) c.581-15C= (n.581-15C=) c.83-15C= (n.83-15C=) c.353-15C= (n.353-15C=) c.644-15C= (n.644-15C=) | |
| 5 | g.161331142G>T | CA3543462 | GABRB2 | c.833-15C>A (n.833-15C>A) n.915-15C>A c.*292-15C>A (n.*292-15C>A) c.581-15C>A (n.581-15C>A) c.83-15C>A (n.83-15C>A) c.353-15C>A (n.353-15C>A) c.644-15C>A (n.644-15C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161331143A>G | CA2676314830 | GABRB2 | c.833-16T>C (n.833-16T>C) n.915-16T>C c.*292-16T>C (n.*292-16T>C) c.581-16T>C (n.581-16T>C) c.83-16T>C (n.83-16T>C) c.353-16T>C (n.353-16T>C) c.644-16T>C (n.644-16T>C) | gnomAD v4 |
| 5 | g.161331144G>A | CA650875937 | GABRB2 | c.833-17C>T (n.833-17C>T) n.915-17C>T c.*292-17C>T (n.*292-17C>T) c.581-17C>T (n.581-17C>T) c.83-17C>T (n.83-17C>T) c.353-17C>T (n.353-17C>T) c.644-17C>T (n.644-17C>T) | COSMIC |
| 5 | g.161331146G= | CA1595983905 | GABRB2 | c.833-19C= (n.833-19C=) n.915-19C= c.*292-19C= (n.*292-19C=) c.581-19C= (n.581-19C=) c.83-19C= (n.83-19C=) c.353-19C= (n.353-19C=) c.644-19C= (n.644-19C=) | |
| 5 | g.161331146G>T | CA806581961 | GABRB2 | c.833-19C>A (n.833-19C>A) n.915-19C>A c.*292-19C>A (n.*292-19C>A) c.581-19C>A (n.581-19C>A) c.83-19C>A (n.83-19C>A) c.353-19C>A (n.353-19C>A) c.644-19C>A (n.644-19C>A) | dbSNP |
| 5 | g.161331148T>A | CA2769169107 | GABRB2 | c.833-21A>T (n.833-21A>T) n.915-21A>T c.*292-21A>T (n.*292-21A>T) c.581-21A>T (n.581-21A>T) c.83-21A>T (n.83-21A>T) c.353-21A>T (n.353-21A>T) c.644-21A>T (n.644-21A>T) | |
| 5 | g.161331149A>G | CA2676314831 | GABRB2 | c.833-22T>C (n.833-22T>C) n.915-22T>C c.*292-22T>C (n.*292-22T>C) c.581-22T>C (n.581-22T>C) c.83-22T>C (n.83-22T>C) c.353-22T>C (n.353-22T>C) c.644-22T>C (n.644-22T>C) | gnomAD v4 |
| 5 | g.161331150G>C | CA3543463 | GABRB2 | c.833-23C>G (n.833-23C>G) n.915-23C>G c.*292-23C>G (n.*292-23C>G) c.581-23C>G (n.581-23C>G) c.83-23C>G (n.83-23C>G) c.353-23C>G (n.353-23C>G) c.644-23C>G (n.644-23C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161331150G= | CA1595983906 | GABRB2 | c.833-23C= (n.833-23C=) n.915-23C= c.*292-23C= (n.*292-23C=) c.581-23C= (n.581-23C=) c.83-23C= (n.83-23C=) c.353-23C= (n.353-23C=) c.644-23C= (n.644-23C=) | |
| 5 | g.161331151A>T | CA2710573131 | GABRB2 | c.833-24T>A (n.833-24T>A) n.915-24T>A c.*292-24T>A (n.*292-24T>A) c.581-24T>A (n.581-24T>A) c.83-24T>A (n.83-24T>A) c.353-24T>A (n.353-24T>A) c.644-24T>A (n.644-24T>A) | dbSNP |
| 5 | g.161331152G>A | CA3543464 | GABRB2 | c.833-25C>T (n.833-25C>T) n.915-25C>T c.*292-25C>T (n.*292-25C>T) c.581-25C>T (n.581-25C>T) c.83-25C>T (n.83-25C>T) c.353-25C>T (n.353-25C>T) c.644-25C>T (n.644-25C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161331152G= | CA1595983907 | GABRB2 | c.833-25C= (n.833-25C=) n.915-25C= c.*292-25C= (n.*292-25C=) c.581-25C= (n.581-25C=) c.83-25C= (n.83-25C=) c.353-25C= (n.353-25C=) c.644-25C= (n.644-25C=) | |
| 5 | g.161331153T>A | CA1083648473 | GABRB2 | c.833-26A>T (n.833-26A>T) n.915-26A>T c.*292-26A>T (n.*292-26A>T) c.581-26A>T (n.581-26A>T) c.83-26A>T (n.83-26A>T) c.353-26A>T (n.353-26A>T) c.644-26A>T (n.644-26A>T) | dbSNP |
| 5 | g.161331153T>C | CA806581971 | GABRB2 | c.833-26A>G (n.833-26A>G) n.915-26A>G c.*292-26A>G (n.*292-26A>G) c.581-26A>G (n.581-26A>G) c.83-26A>G (n.83-26A>G) c.353-26A>G (n.353-26A>G) c.644-26A>G (n.644-26A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331153T>G | CA2676314832 | GABRB2 | c.833-26A>C (n.833-26A>C) n.915-26A>C c.*292-26A>C (n.*292-26A>C) c.581-26A>C (n.581-26A>C) c.83-26A>C (n.83-26A>C) c.353-26A>C (n.353-26A>C) c.644-26A>C (n.644-26A>C) | gnomAD v4 |
| 5 | g.161331153T= | CA1595983908 | GABRB2 | c.833-26A= (n.833-26A=) n.915-26A= c.*292-26A= (n.*292-26A=) c.581-26A= (n.581-26A=) c.83-26A= (n.83-26A=) c.353-26A= (n.353-26A=) c.644-26A= (n.644-26A=) | |
| 5 | g.161331154A= | CA1595983909 | GABRB2 | c.833-27T= (n.833-27T=) n.915-27T= c.*292-27T= (n.*292-27T=) c.581-27T= (n.581-27T=) c.83-27T= (n.83-27T=) c.353-27T= (n.353-27T=) c.644-27T= (n.644-27T=) | |
| 5 | g.161331154A>C | CA806581973 | GABRB2 | c.833-27T>G (n.833-27T>G) n.915-27T>G c.*292-27T>G (n.*292-27T>G) c.581-27T>G (n.581-27T>G) c.83-27T>G (n.83-27T>G) c.353-27T>G (n.353-27T>G) c.644-27T>G (n.644-27T>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331155A>G | CA2676314833 | GABRB2 | c.833-28T>C (n.833-28T>C) n.915-28T>C c.*292-28T>C (n.*292-28T>C) c.581-28T>C (n.581-28T>C) c.83-28T>C (n.83-28T>C) c.353-28T>C (n.353-28T>C) c.644-28T>C (n.644-28T>C) | gnomAD v4 |