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.161330993A>C | CA362175225 | GABRB2 | c.967T>G (p.Tyr323Asp) n.1049T>G c.*426T>G (n.*426T>G) c.715T>G (p.Tyr239Asp) c.217T>G (p.Tyr73Asp) c.487T>G (p.Tyr163Asp) c.778T>G (p.Tyr260Asp) | |
| 5 | g.161330993A>G | CA362175226 | GABRB2 | c.967T>C (p.Tyr323His) n.1049T>C c.*426T>C (n.*426T>C) c.715T>C (p.Tyr239His) c.217T>C (p.Tyr73His) c.487T>C (p.Tyr163His) c.778T>C (p.Tyr260His) | |
| 5 | g.161330993A>T | CA362175227 | GABRB2 | c.967T>A (p.Tyr323Asn) n.1049T>A c.*426T>A (n.*426T>A) c.715T>A (p.Tyr239Asn) c.217T>A (p.Tyr73Asn) c.487T>A (p.Tyr163Asn) c.778T>A (p.Tyr260Asn) | |
| 5 | g.161330994T>A | CA362175228 | GABRB2 | c.966A>T (p.Glu322Asp) n.1048A>T c.*425A>T (n.*425A>T) c.714A>T (p.Glu238Asp) c.216A>T (p.Glu72Asp) c.486A>T (p.Glu162Asp) c.777A>T (p.Glu259Asp) | |
| 5 | g.161330994T>C | CA447691392 | GABRB2 | c.966A>G (p.Glu322=) n.1048A>G c.*425A>G (n.*425A>G) c.714A>G (p.Glu238=) c.216A>G (p.Glu72=) c.486A>G (p.Glu162=) c.777A>G (p.Glu259=) | |
| 5 | g.161330994T>G | CA362175229 | GABRB2 | c.966A>C (p.Glu322Asp) n.1048A>C c.*425A>C (n.*425A>C) c.714A>C (p.Glu238Asp) c.216A>C (p.Glu72Asp) c.486A>C (p.Glu162Asp) c.777A>C (p.Glu259Asp) | |
| 5 | g.161330995T>A | CA362175230 | GABRB2 | c.965A>T (p.Glu322Val) n.1047A>T c.*424A>T (n.*424A>T) c.713A>T (p.Glu238Val) c.215A>T (p.Glu72Val) c.485A>T (p.Glu162Val) c.776A>T (p.Glu259Val) | |
| 5 | g.161330995T>C | CA362175231 | GABRB2 | c.965A>G (p.Glu322Gly) n.1047A>G c.*424A>G (n.*424A>G) c.713A>G (p.Glu238Gly) c.215A>G (p.Glu72Gly) c.485A>G (p.Glu162Gly) c.776A>G (p.Glu259Gly) | |
| 5 | g.161330995T>G | CA362175232 | GABRB2 | c.965A>C (p.Glu322Ala) n.1047A>C c.*424A>C (n.*424A>C) c.713A>C (p.Glu238Ala) c.215A>C (p.Glu72Ala) c.485A>C (p.Glu162Ala) c.776A>C (p.Glu259Ala) | |
| 5 | g.161330996C>A | CA362175233 | GABRB2 | c.964G>T (p.Glu322Ter) n.1046G>T c.*423G>T (n.*423G>T) c.712G>T (p.Glu238Ter) c.214G>T (p.Glu72Ter) c.484G>T (p.Glu162Ter) c.775G>T (p.Glu259Ter) | COSMIC COSMIC |
| 5 | g.161330996C>G | CA362175234 | GABRB2 | c.964G>C (p.Glu322Gln) n.1046G>C c.*423G>C (n.*423G>C) c.712G>C (p.Glu238Gln) c.214G>C (p.Glu72Gln) c.484G>C (p.Glu162Gln) c.775G>C (p.Glu259Gln) | |
| 5 | g.161330996C>T | CA362175235 | GABRB2 | c.964G>A (p.Glu322Lys) n.1046G>A c.*423G>A (n.*423G>A) c.712G>A (p.Glu238Lys) c.214G>A (p.Glu72Lys) c.484G>A (p.Glu162Lys) c.775G>A (p.Glu259Lys) | COSMIC COSMIC |
| 5 | g.161330997C>A | CA447691398 | GABRB2 | c.963G>T (p.Leu321=) n.1045G>T c.*422G>T (n.*422G>T) c.711G>T (p.Leu237=) c.213G>T (p.Leu71=) c.483G>T (p.Leu161=) c.774G>T (p.Leu258=) | |
| 5 | g.161330997C>G | CA447691397 | GABRB2 | c.963G>C (p.Leu321=) n.1045G>C c.*422G>C (n.*422G>C) c.711G>C (p.Leu237=) c.213G>C (p.Leu71=) c.483G>C (p.Leu161=) c.774G>C (p.Leu258=) | |
| 5 | g.161330997C>T | CA447691395 | GABRB2 | c.963G>A (p.Leu321=) n.1045G>A c.*422G>A (n.*422G>A) c.711G>A (p.Leu237=) c.213G>A (p.Leu71=) c.483G>A (p.Leu161=) c.774G>A (p.Leu258=) | |
| 5 | g.161330998A>C | CA362175236 | GABRB2 | c.962T>G (p.Leu321Arg) n.1044T>G c.*421T>G (n.*421T>G) c.710T>G (p.Leu237Arg) c.212T>G (p.Leu71Arg) c.482T>G (p.Leu161Arg) c.773T>G (p.Leu258Arg) | |
| 5 | g.161330998A>G | CA362175237 | GABRB2 | c.962T>C (p.Leu321Pro) n.1044T>C c.*421T>C (n.*421T>C) c.710T>C (p.Leu237Pro) c.212T>C (p.Leu71Pro) c.482T>C (p.Leu161Pro) c.773T>C (p.Leu258Pro) | |
| 5 | g.161330998A>T | CA362175238 | GABRB2 | c.962T>A (p.Leu321Gln) n.1044T>A c.*421T>A (n.*421T>A) c.710T>A (p.Leu237Gln) c.212T>A (p.Leu71Gln) c.482T>A (p.Leu161Gln) c.773T>A (p.Leu258Gln) | |
| 5 | g.161330999G>A | CA447691401 | GABRB2 | c.961C>T (p.Leu321=) n.1043C>T c.*420C>T (n.*420C>T) c.709C>T (p.Leu237=) c.211C>T (p.Leu71=) c.481C>T (p.Leu161=) c.772C>T (p.Leu258=) | ClinVar |
| 5 | g.161330999G>C | CA362175239 | GABRB2 | c.961C>G (p.Leu321Val) n.1043C>G c.*420C>G (n.*420C>G) c.709C>G (p.Leu237Val) c.211C>G (p.Leu71Val) c.481C>G (p.Leu161Val) c.772C>G (p.Leu258Val) | |
| 5 | g.161330999G>T | CA362175240 | GABRB2 | c.961C>A (p.Leu321Met) n.1043C>A c.*420C>A (n.*420C>A) c.709C>A (p.Leu237Met) c.211C>A (p.Leu71Met) c.481C>A (p.Leu161Met) c.772C>A (p.Leu258Met) | |
| 5 | g.161331000A>C | CA447691402 | GABRB2 | c.960T>G (p.Leu320=) n.1042T>G c.*419T>G (n.*419T>G) c.708T>G (p.Leu236=) c.210T>G (p.Leu70=) c.480T>G (p.Leu160=) c.771T>G (p.Leu257=) | |
| 5 | g.161331000A>G | CA447691408 | GABRB2 | c.960T>C (p.Leu320=) n.1042T>C c.*419T>C (n.*419T>C) c.708T>C (p.Leu236=) c.210T>C (p.Leu70=) c.480T>C (p.Leu160=) c.771T>C (p.Leu257=) | |
| 5 | g.161331000A>T | CA447691411 | GABRB2 | c.960T>A (p.Leu320=) n.1042T>A c.*419T>A (n.*419T>A) c.708T>A (p.Leu236=) c.210T>A (p.Leu70=) c.480T>A (p.Leu160=) c.771T>A (p.Leu257=) | |
| 5 | g.161331001A>C | CA362175243 | GABRB2 | c.959T>G (p.Leu320Arg) n.1041T>G c.*418T>G (n.*418T>G) c.707T>G (p.Leu236Arg) c.209T>G (p.Leu70Arg) c.479T>G (p.Leu160Arg) c.770T>G (p.Leu257Arg) | |
| 5 | g.161331001A>G | CA362175242 | GABRB2 | c.959T>C (p.Leu320Pro) n.1041T>C c.*418T>C (n.*418T>C) c.707T>C (p.Leu236Pro) c.209T>C (p.Leu70Pro) c.479T>C (p.Leu160Pro) c.770T>C (p.Leu257Pro) | |
| 5 | g.161331001A>T | CA362175241 | GABRB2 | c.959T>A (p.Leu320His) n.1041T>A c.*418T>A (n.*418T>A) c.707T>A (p.Leu236His) c.209T>A (p.Leu70His) c.479T>A (p.Leu160His) c.770T>A (p.Leu257His) | |
| 5 | g.161331002G>A | CA362175244 | GABRB2 | c.958C>T (p.Leu320Phe) n.1040C>T c.*417C>T (n.*417C>T) c.706C>T (p.Leu236Phe) c.208C>T (p.Leu70Phe) c.478C>T (p.Leu160Phe) c.769C>T (p.Leu257Phe) | |
| 5 | g.161331002G>C | CA362175245 | GABRB2 | c.958C>G (p.Leu320Val) n.1040C>G c.*417C>G (n.*417C>G) c.706C>G (p.Leu236Val) c.208C>G (p.Leu70Val) c.478C>G (p.Leu160Val) c.769C>G (p.Leu257Val) | |
| 5 | g.161331002G>T | CA362175246 | GABRB2 | c.958C>A (p.Leu320Ile) n.1040C>A c.*417C>A (n.*417C>A) c.706C>A (p.Leu236Ile) c.208C>A (p.Leu70Ile) c.478C>A (p.Leu160Ile) c.769C>A (p.Leu257Ile) | COSMIC COSMIC |
| 5 | g.161331003G>A | CA447691416 | GABRB2 | c.957C>T (p.Ala319=) n.1039C>T c.*416C>T (n.*416C>T) c.705C>T (p.Ala235=) c.207C>T (p.Ala69=) c.477C>T (p.Ala159=) c.768C>T (p.Ala256=) | |
| 5 | g.161331003G>C | CA3543455 | GABRB2 | c.957C>G (p.Ala319=) n.1039C>G c.*416C>G (n.*416C>G) c.705C>G (p.Ala235=) c.207C>G (p.Ala69=) c.477C>G (p.Ala159=) c.768C>G (p.Ala256=) | dbSNP ExAC gnomAD v2 |
| 5 | g.161331003G= | CA1595983854 | GABRB2 | c.957C= (p.Ala319=) n.1039C= c.*416C= (n.*416C=) c.705C= (p.Ala235=) c.207C= (p.Ala69=) c.477C= (p.Ala159=) c.768C= (p.Ala256=) | |
| 5 | g.161331003G>T | CA447691417 | GABRB2 | c.957C>A (p.Ala319=) n.1039C>A c.*416C>A (n.*416C>A) c.705C>A (p.Ala235=) c.207C>A (p.Ala69=) c.477C>A (p.Ala159=) c.768C>A (p.Ala256=) | |
| 5 | g.161331004G>A | CA362175247 | GABRB2 | c.956C>T (p.Ala319Val) n.1038C>T c.*415C>T (n.*415C>T) c.704C>T (p.Ala235Val) c.206C>T (p.Ala69Val) c.476C>T (p.Ala159Val) c.767C>T (p.Ala256Val) | ClinVar |
| 5 | g.161331004G>C | CA362175248 | GABRB2 | c.956C>G (p.Ala319Gly) n.1038C>G c.*415C>G (n.*415C>G) c.704C>G (p.Ala235Gly) c.206C>G (p.Ala69Gly) c.476C>G (p.Ala159Gly) c.767C>G (p.Ala256Gly) | |
| 5 | g.161331004G>T | CA362175249 | GABRB2 | c.956C>A (p.Ala319Asp) n.1038C>A c.*415C>A (n.*415C>A) c.704C>A (p.Ala235Asp) c.206C>A (p.Ala69Asp) c.476C>A (p.Ala159Asp) c.767C>A (p.Ala256Asp) | |
| 5 | g.161331005C>A | CA362175250 | GABRB2 | c.955G>T (p.Ala319Ser) n.1037G>T c.*414G>T (n.*414G>T) c.703G>T (p.Ala235Ser) c.205G>T (p.Ala69Ser) c.475G>T (p.Ala159Ser) c.766G>T (p.Ala256Ser) | |
| 5 | g.161331005C>G | CA362175251 | GABRB2 | c.955G>C (p.Ala319Pro) n.1037G>C c.*414G>C (n.*414G>C) c.703G>C (p.Ala235Pro) c.205G>C (p.Ala69Pro) c.475G>C (p.Ala159Pro) c.766G>C (p.Ala256Pro) | |
| 5 | g.161331005C>T | CA362175252 | GABRB2 | c.955G>A (p.Ala319Thr) n.1037G>A c.*414G>A (n.*414G>A) c.703G>A (p.Ala235Thr) c.205G>A (p.Ala69Thr) c.475G>A (p.Ala159Thr) c.766G>A (p.Ala256Thr) | |
| 5 | g.161331006C>A | CA362175253 | GABRB2 | c.954G>T (p.Met318Ile) n.1036G>T c.*413G>T (n.*413G>T) c.702G>T (p.Met234Ile) c.204G>T (p.Met68Ile) c.474G>T (p.Met158Ile) c.765G>T (p.Met255Ile) | dbSNP |
| 5 | g.161331006C>G | CA362175254 | GABRB2 | c.954G>C (p.Met318Ile) n.1036G>C c.*413G>C (n.*413G>C) c.702G>C (p.Met234Ile) c.204G>C (p.Met68Ile) c.474G>C (p.Met158Ile) c.765G>C (p.Met255Ile) | |
| 5 | g.161331006C>T | CA362175255 | GABRB2 | c.954G>A (p.Met318Ile) n.1036G>A c.*413G>A (n.*413G>A) c.702G>A (p.Met234Ile) c.204G>A (p.Met68Ile) c.474G>A (p.Met158Ile) c.765G>A (p.Met255Ile) | gnomAD v4 |
| 5 | g.161331007A>C | CA362175258 | GABRB2 | c.953T>G (p.Met318Arg) n.1035T>G c.*412T>G (n.*412T>G) c.701T>G (p.Met234Arg) c.203T>G (p.Met68Arg) c.473T>G (p.Met158Arg) c.764T>G (p.Met255Arg) | |
| 5 | g.161331007A>G | CA362175257 | GABRB2 | c.953T>C (p.Met318Thr) n.1035T>C c.*412T>C (n.*412T>C) c.701T>C (p.Met234Thr) c.203T>C (p.Met68Thr) c.473T>C (p.Met158Thr) c.764T>C (p.Met255Thr) | |
| 5 | g.161331007A>T | CA362175256 | GABRB2 | c.953T>A (p.Met318Lys) n.1035T>A c.*412T>A (n.*412T>A) c.701T>A (p.Met234Lys) c.203T>A (p.Met68Lys) c.473T>A (p.Met158Lys) c.764T>A (p.Met255Lys) | |
| 5 | g.161331008T>A | CA362175259 | GABRB2 | c.952A>T (p.Met318Leu) n.1034A>T c.*411A>T (n.*411A>T) c.700A>T (p.Met234Leu) c.202A>T (p.Met68Leu) c.472A>T (p.Met158Leu) c.763A>T (p.Met255Leu) | |
| 5 | g.161331008T>C | CA362175260 | GABRB2 | c.952A>G (p.Met318Val) n.1034A>G c.*411A>G (n.*411A>G) c.700A>G (p.Met234Val) c.202A>G (p.Met68Val) c.472A>G (p.Met158Val) c.763A>G (p.Met255Val) | |
| 5 | g.161331008T>G | CA362175261 | GABRB2 | c.952A>C (p.Met318Leu) n.1034A>C c.*411A>C (n.*411A>C) c.700A>C (p.Met234Leu) c.202A>C (p.Met68Leu) c.472A>C (p.Met158Leu) c.763A>C (p.Met255Leu) | |
| 5 | g.161331009G>A | CA447691426 | GABRB2 | c.951C>T (p.Phe317=) n.1033C>T c.*410C>T (n.*410C>T) c.699C>T (p.Phe233=) c.201C>T (p.Phe67=) c.471C>T (p.Phe157=) c.762C>T (p.Phe254=) | COSMIC COSMIC |
| 5 | g.161331009G>C | CA362175262 | GABRB2 | c.951C>G (p.Phe317Leu) n.1033C>G c.*410C>G (n.*410C>G) c.699C>G (p.Phe233Leu) c.201C>G (p.Phe67Leu) c.471C>G (p.Phe157Leu) c.762C>G (p.Phe254Leu) | |
| 5 | g.161331009G>T | CA362175263 | GABRB2 | c.951C>A (p.Phe317Leu) n.1033C>A c.*410C>A (n.*410C>A) c.699C>A (p.Phe233Leu) c.201C>A (p.Phe67Leu) c.471C>A (p.Phe157Leu) c.762C>A (p.Phe254Leu) | |
| 5 | g.161331009_161331010delinsGA | CA1595983855 | GABRB2 | c.950_951delinsTC (p.Phe317=) n.1032_1033delinsTC c.*409_*410delinsTC (n.*409_*410delinsTC) c.698_699delinsTC (p.Phe233=) c.200_201delinsTC (p.Phe67=) c.470_471delinsTC (p.Phe157=) c.761_762delinsTC (p.Phe254=) | |
| 5 | g.161331009_161331010delinsTG | CA658657565 | GABRB2 | c.950_951delinsCA (p.Phe317Ser) n.1032_1033delinsCA c.*409_*410delinsCA (n.*409_*410delinsCA) c.698_699delinsCA (p.Phe233Ser) c.200_201delinsCA (p.Phe67Ser) c.470_471delinsCA (p.Phe157Ser) c.761_762delinsCA (p.Phe254Ser) | ClinVar dbSNP |
| 5 | g.161331010A>C | CA362175264 | GABRB2 | c.950T>G (p.Phe317Cys) n.1032T>G c.*409T>G (n.*409T>G) c.698T>G (p.Phe233Cys) c.200T>G (p.Phe67Cys) c.470T>G (p.Phe157Cys) c.761T>G (p.Phe254Cys) | |
| 5 | g.161331010A>G | CA362175265 | GABRB2 | c.950T>C (p.Phe317Ser) n.1032T>C c.*409T>C (n.*409T>C) c.698T>C (p.Phe233Ser) c.200T>C (p.Phe67Ser) c.470T>C (p.Phe157Ser) c.761T>C (p.Phe254Ser) | |
| 5 | g.161331010A>T | CA362175266 | GABRB2 | c.950T>A (p.Phe317Tyr) n.1032T>A c.*409T>A (n.*409T>A) c.698T>A (p.Phe233Tyr) c.200T>A (p.Phe67Tyr) c.470T>A (p.Phe157Tyr) c.761T>A (p.Phe254Tyr) | |
| 5 | g.161331011A>C | CA362175267 | GABRB2 | c.949T>G (p.Phe317Val) n.1031T>G c.*408T>G (n.*408T>G) c.697T>G (p.Phe233Val) c.199T>G (p.Phe67Val) c.469T>G (p.Phe157Val) c.760T>G (p.Phe254Val) | |
| 5 | g.161331011A>G | CA362175268 | GABRB2 | c.949T>C (p.Phe317Leu) n.1031T>C c.*408T>C (n.*408T>C) c.697T>C (p.Phe233Leu) c.199T>C (p.Phe67Leu) c.469T>C (p.Phe157Leu) c.760T>C (p.Phe254Leu) | |
| 5 | g.161331011A>T | CA362175269 | GABRB2 | c.949T>A (p.Phe317Ile) n.1031T>A c.*408T>A (n.*408T>A) c.697T>A (p.Phe233Ile) c.199T>A (p.Phe67Ile) c.469T>A (p.Phe157Ile) c.760T>A (p.Phe254Ile) | |
| 5 | g.161331012A>C | CA447691430 | GABRB2 | c.948T>G (p.Val316=) n.1030T>G c.*407T>G (n.*407T>G) c.696T>G (p.Val232=) c.198T>G (p.Val66=) c.468T>G (p.Val156=) c.759T>G (p.Val253=) | |
| 5 | g.161331012A>G | CA447691431 | GABRB2 | c.948T>C (p.Val316=) n.1030T>C c.*407T>C (n.*407T>C) c.696T>C (p.Val232=) c.198T>C (p.Val66=) c.468T>C (p.Val156=) c.759T>C (p.Val253=) | |
| 5 | g.161331012A>T | CA447691432 | GABRB2 | c.948T>A (p.Val316=) n.1030T>A c.*407T>A (n.*407T>A) c.696T>A (p.Val232=) c.198T>A (p.Val66=) c.468T>A (p.Val156=) c.759T>A (p.Val253=) | |
| 5 | g.161331013A>C | CA362175270 | GABRB2 | c.947T>G (p.Val316Gly) n.1029T>G c.*406T>G (n.*406T>G) c.695T>G (p.Val232Gly) c.197T>G (p.Val66Gly) c.467T>G (p.Val156Gly) c.758T>G (p.Val253Gly) | |
| 5 | g.161331013A>G | CA362175271 | GABRB2 | c.947T>C (p.Val316Ala) n.1029T>C c.*406T>C (n.*406T>C) c.695T>C (p.Val232Ala) c.197T>C (p.Val66Ala) c.467T>C (p.Val156Ala) c.758T>C (p.Val253Ala) | |
| 5 | g.161331013A>T | CA362175272 | GABRB2 | c.947T>A (p.Val316Asp) n.1029T>A c.*406T>A (n.*406T>A) c.695T>A (p.Val232Asp) c.197T>A (p.Val66Asp) c.467T>A (p.Val156Asp) c.758T>A (p.Val253Asp) | |
| 5 | g.161331014C>A | CA362175274 | GABRB2 | c.946G>T (p.Val316Phe) n.1028G>T c.*405G>T (n.*405G>T) c.694G>T (p.Val232Phe) c.196G>T (p.Val66Phe) c.466G>T (p.Val156Phe) c.757G>T (p.Val253Phe) | |
| 5 | g.161331014C= | CA1595983856 | GABRB2 | c.946G= (p.Val316=) n.1028G= c.*405G= (n.*405G=) c.694G= (p.Val232=) c.196G= (p.Val66=) c.466G= (p.Val156=) c.757G= (p.Val253=) | |
| 5 | g.161331014C>G | CA362175275 | GABRB2 | c.946G>C (p.Val316Leu) n.1028G>C c.*405G>C (n.*405G>C) c.694G>C (p.Val232Leu) c.196G>C (p.Val66Leu) c.466G>C (p.Val156Leu) c.757G>C (p.Val253Leu) | |
| 5 | g.161331014C>T | CA362175273 | GABRB2 | c.946G>A (p.Val316Ile) n.1028G>A c.*405G>A (n.*405G>A) c.694G>A (p.Val232Ile) c.196G>A (p.Val66Ile) c.466G>A (p.Val156Ile) c.757G>A (p.Val253Ile) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.161331015G>A | CA131019992 | GABRB2 | c.945C>T (p.Phe315=) n.1027C>T c.*404C>T (n.*404C>T) c.693C>T (p.Phe231=) c.195C>T (p.Phe65=) c.465C>T (p.Phe155=) c.756C>T (p.Phe252=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161331015G>C | CA362175276 | GABRB2 | c.945C>G (p.Phe315Leu) n.1027C>G c.*404C>G (n.*404C>G) c.693C>G (p.Phe231Leu) c.195C>G (p.Phe65Leu) c.465C>G (p.Phe155Leu) c.756C>G (p.Phe252Leu) | |
| 5 | g.161331015G= | CA1595983857 | GABRB2 | c.945C= (p.Phe315=) n.1027C= c.*404C= (n.*404C=) c.693C= (p.Phe231=) c.195C= (p.Phe65=) c.465C= (p.Phe155=) c.756C= (p.Phe252=) | |
| 5 | g.161331015G>T | CA362175277 | GABRB2 | c.945C>A (p.Phe315Leu) n.1027C>A c.*404C>A (n.*404C>A) c.693C>A (p.Phe231Leu) c.195C>A (p.Phe65Leu) c.465C>A (p.Phe155Leu) c.756C>A (p.Phe252Leu) | |
| 5 | g.161331016A>C | CA362175278 | GABRB2 | c.944T>G (p.Phe315Cys) n.1026T>G c.*403T>G (n.*403T>G) c.692T>G (p.Phe231Cys) c.194T>G (p.Phe65Cys) c.464T>G (p.Phe155Cys) c.755T>G (p.Phe252Cys) | |
| 5 | g.161331016A>G | CA362175279 | GABRB2 | c.944T>C (p.Phe315Ser) n.1026T>C c.*403T>C (n.*403T>C) c.692T>C (p.Phe231Ser) c.194T>C (p.Phe65Ser) c.464T>C (p.Phe155Ser) c.755T>C (p.Phe252Ser) | |
| 5 | g.161331016A>T | CA362175280 | GABRB2 | c.944T>A (p.Phe315Tyr) n.1026T>A c.*403T>A (n.*403T>A) c.692T>A (p.Phe231Tyr) c.194T>A (p.Phe65Tyr) c.464T>A (p.Phe155Tyr) c.755T>A (p.Phe252Tyr) | |
| 5 | g.161331017A>C | CA362175281 | GABRB2 | c.943T>G (p.Phe315Val) n.1025T>G c.*402T>G (n.*402T>G) c.691T>G (p.Phe231Val) c.193T>G (p.Phe65Val) c.463T>G (p.Phe155Val) c.754T>G (p.Phe252Val) | |
| 5 | g.161331017A>G | CA362175282 | GABRB2 | c.943T>C (p.Phe315Leu) n.1025T>C c.*402T>C (n.*402T>C) c.691T>C (p.Phe231Leu) c.193T>C (p.Phe65Leu) c.463T>C (p.Phe155Leu) c.754T>C (p.Phe252Leu) | COSMIC COSMIC |
| 5 | g.161331017A>T | CA362175283 | GABRB2 | c.943T>A (p.Phe315Ile) n.1025T>A c.*402T>A (n.*402T>A) c.691T>A (p.Phe231Ile) c.193T>A (p.Phe65Ile) c.463T>A (p.Phe155Ile) c.754T>A (p.Phe252Ile) | |
| 5 | g.161331018G>A | CA447691440 | GABRB2 | c.942C>T (p.Val314=) n.1024C>T c.*401C>T (n.*401C>T) c.690C>T (p.Val230=) c.192C>T (p.Val64=) c.462C>T (p.Val154=) c.753C>T (p.Val251=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331018G>C | CA447691442 | GABRB2 | c.942C>G (p.Val314=) n.1024C>G c.*401C>G (n.*401C>G) c.690C>G (p.Val230=) c.192C>G (p.Val64=) c.462C>G (p.Val154=) c.753C>G (p.Val251=) | |
| 5 | g.161331018G= | CA1595983858 | GABRB2 | c.942C= (p.Val314=) n.1024C= c.*401C= (n.*401C=) c.690C= (p.Val230=) c.192C= (p.Val64=) c.462C= (p.Val154=) c.753C= (p.Val251=) | |
| 5 | g.161331018G>T | CA447691444 | GABRB2 | c.942C>A (p.Val314=) n.1024C>A c.*401C>A (n.*401C>A) c.690C>A (p.Val230=) c.192C>A (p.Val64=) c.462C>A (p.Val154=) c.753C>A (p.Val251=) | |
| 5 | g.161331019A>C | CA362175284 | GABRB2 | c.941T>G (p.Val314Gly) n.1023T>G c.*400T>G (n.*400T>G) c.689T>G (p.Val230Gly) c.191T>G (p.Val64Gly) c.461T>G (p.Val154Gly) c.752T>G (p.Val251Gly) | |
| 5 | g.161331019A>G | CA362175285 | GABRB2 | c.941T>C (p.Val314Ala) n.1023T>C c.*400T>C (n.*400T>C) c.689T>C (p.Val230Ala) c.191T>C (p.Val64Ala) c.461T>C (p.Val154Ala) c.752T>C (p.Val251Ala) | |
| 5 | g.161331019A>T | CA362175286 | GABRB2 | c.941T>A (p.Val314Asp) n.1023T>A c.*400T>A (n.*400T>A) c.689T>A (p.Val230Asp) c.191T>A (p.Val64Asp) c.461T>A (p.Val154Asp) c.752T>A (p.Val251Asp) | |
| 5 | g.161331020C>A | CA362175289 | GABRB2 | c.940G>T (p.Val314Phe) n.1022G>T c.*399G>T (n.*399G>T) c.688G>T (p.Val230Phe) c.190G>T (p.Val64Phe) c.460G>T (p.Val154Phe) c.751G>T (p.Val251Phe) | |
| 5 | g.161331020C>G | CA362175287 | GABRB2 | c.940G>C (p.Val314Leu) n.1022G>C c.*399G>C (n.*399G>C) c.688G>C (p.Val230Leu) c.190G>C (p.Val64Leu) c.460G>C (p.Val154Leu) c.751G>C (p.Val251Leu) | ClinVar gnomAD v4 |
| 5 | g.161331020C>T | CA362175288 | GABRB2 | c.940G>A (p.Val314Ile) n.1022G>A c.*399G>A (n.*399G>A) c.688G>A (p.Val230Ile) c.190G>A (p.Val64Ile) c.460G>A (p.Val154Ile) c.751G>A (p.Val251Ile) | |
| 5 | g.161331021A>C | CA362175290 | GABRB2 | c.939T>G (p.Phe313Leu) n.1021T>G c.*398T>G (n.*398T>G) c.687T>G (p.Phe229Leu) c.189T>G (p.Phe63Leu) c.459T>G (p.Phe153Leu) c.750T>G (p.Phe250Leu) | |
| 5 | g.161331021A>G | CA447691447 | GABRB2 | c.939T>C (p.Phe313=) n.1021T>C c.*398T>C (n.*398T>C) c.687T>C (p.Phe229=) c.189T>C (p.Phe63=) c.459T>C (p.Phe153=) c.750T>C (p.Phe250=) | |
| 5 | g.161331021A>T | CA362175291 | GABRB2 | c.939T>A (p.Phe313Leu) n.1021T>A c.*398T>A (n.*398T>A) c.687T>A (p.Phe229Leu) c.189T>A (p.Phe63Leu) c.459T>A (p.Phe153Leu) c.750T>A (p.Phe250Leu) | |
| 5 | g.161331022A>C | CA362175292 | GABRB2 | c.938T>G (p.Phe313Cys) n.1020T>G c.*397T>G (n.*397T>G) c.686T>G (p.Phe229Cys) c.188T>G (p.Phe63Cys) c.458T>G (p.Phe153Cys) c.749T>G (p.Phe250Cys) | |
| 5 | g.161331022A>G | CA362175293 | GABRB2 | c.938T>C (p.Phe313Ser) n.1020T>C c.*397T>C (n.*397T>C) c.686T>C (p.Phe229Ser) c.188T>C (p.Phe63Ser) c.458T>C (p.Phe153Ser) c.749T>C (p.Phe250Ser) | |
| 5 | g.161331022A>T | CA362175294 | GABRB2 | c.938T>A (p.Phe313Tyr) n.1020T>A c.*397T>A (n.*397T>A) c.686T>A (p.Phe229Tyr) c.188T>A (p.Phe63Tyr) c.458T>A (p.Phe153Tyr) c.749T>A (p.Phe250Tyr) | |
| 5 | g.161331023A>C | CA362175295 | GABRB2 | c.937T>G (p.Phe313Val) n.1019T>G c.*396T>G (n.*396T>G) c.685T>G (p.Phe229Val) c.187T>G (p.Phe63Val) c.457T>G (p.Phe153Val) c.748T>G (p.Phe250Val) | |
| 5 | g.161331023A>G | CA362175296 | GABRB2 | c.937T>C (p.Phe313Leu) n.1019T>C c.*396T>C (n.*396T>C) c.685T>C (p.Phe229Leu) c.187T>C (p.Phe63Leu) c.457T>C (p.Phe153Leu) c.748T>C (p.Phe250Leu) | |
| 5 | g.161331023A>T | CA362175297 | GABRB2 | c.937T>A (p.Phe313Ile) n.1019T>A c.*396T>A (n.*396T>A) c.685T>A (p.Phe229Ile) c.187T>A (p.Phe63Ile) c.457T>A (p.Phe153Ile) c.748T>A (p.Phe250Ile) | |
| 5 | g.161331025_161331035del | CA2676314816 | GABRB2 | c.927_937del (p.Met310CysfsTer?) n.1009_1019del c.*386_*396del (n.*386_*396del) c.675_685del (p.Met226CysfsTer?) c.177_187del (p.Met60CysfsTer?) c.447_457del (p.Met150CysfsTer?) c.738_748del (p.Met247CysfsTer?) | gnomAD v4 |
| 5 | g.161331024G>A | CA3543456 | GABRB2 | c.936C>T (p.Cys312=) n.1018C>T c.*395C>T (n.*395C>T) c.684C>T (p.Cys228=) c.186C>T (p.Cys62=) c.456C>T (p.Cys152=) c.747C>T (p.Cys249=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161331024G>C | CA362175298 | GABRB2 | c.936C>G (p.Cys312Trp) n.1018C>G c.*395C>G (n.*395C>G) c.684C>G (p.Cys228Trp) c.186C>G (p.Cys62Trp) c.456C>G (p.Cys152Trp) c.747C>G (p.Cys249Trp) | COSMIC COSMIC |
| 5 | g.161331024G= | CA1595983859 | GABRB2 | c.936C= (p.Cys312=) n.1018C= c.*395C= (n.*395C=) c.684C= (p.Cys228=) c.186C= (p.Cys62=) c.456C= (p.Cys152=) c.747C= (p.Cys249=) | |
| 5 | g.161331024G>T | CA362175299 | GABRB2 | c.936C>A (p.Cys312Ter) n.1018C>A c.*395C>A (n.*395C>A) c.684C>A (p.Cys228Ter) c.186C>A (p.Cys62Ter) c.456C>A (p.Cys152Ter) c.747C>A (p.Cys249Ter) | |
| 5 | g.161331025C>A | CA362175302 | GABRB2 | c.935G>T (p.Cys312Phe) n.1017G>T c.*394G>T (n.*394G>T) c.683G>T (p.Cys228Phe) c.185G>T (p.Cys62Phe) c.455G>T (p.Cys152Phe) c.746G>T (p.Cys249Phe) | |
| 5 | g.161331025C>G | CA362175301 | GABRB2 | c.935G>C (p.Cys312Ser) n.1017G>C c.*394G>C (n.*394G>C) c.683G>C (p.Cys228Ser) c.185G>C (p.Cys62Ser) c.455G>C (p.Cys152Ser) c.746G>C (p.Cys249Ser) | |
| 5 | g.161331025C>T | CA362175300 | GABRB2 | c.935G>A (p.Cys312Tyr) n.1017G>A c.*394G>A (n.*394G>A) c.683G>A (p.Cys228Tyr) c.185G>A (p.Cys62Tyr) c.455G>A (p.Cys152Tyr) c.746G>A (p.Cys249Tyr) | |
| 5 | g.161331026A>C | CA362175303 | GABRB2 | c.934T>G (p.Cys312Gly) n.1016T>G c.*393T>G (n.*393T>G) c.682T>G (p.Cys228Gly) c.184T>G (p.Cys62Gly) c.454T>G (p.Cys152Gly) c.745T>G (p.Cys249Gly) | |
| 5 | g.161331026A>G | CA362175305 | GABRB2 | c.934T>C (p.Cys312Arg) n.1016T>C c.*393T>C (n.*393T>C) c.682T>C (p.Cys228Arg) c.184T>C (p.Cys62Arg) c.454T>C (p.Cys152Arg) c.745T>C (p.Cys249Arg) | |
| 5 | g.161331026A>T | CA362175304 | GABRB2 | c.934T>A (p.Cys312Ser) n.1016T>A c.*393T>A (n.*393T>A) c.682T>A (p.Cys228Ser) c.184T>A (p.Cys62Ser) c.454T>A (p.Cys152Ser) c.745T>A (p.Cys249Ser) | |
| 5 | g.161331027C>A | CA447691453 | GABRB2 | c.933G>T (p.Gly311=) n.1015G>T c.*392G>T (n.*392G>T) c.681G>T (p.Gly227=) c.183G>T (p.Gly61=) c.453G>T (p.Gly151=) c.744G>T (p.Gly248=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161331027C= | CA1595983860 | GABRB2 | c.933G= (p.Gly311=) n.1015G= c.*392G= (n.*392G=) c.681G= (p.Gly227=) c.183G= (p.Gly61=) c.453G= (p.Gly151=) c.744G= (p.Gly248=) | |
| 5 | g.161331027C>G | CA447691454 | GABRB2 | c.933G>C (p.Gly311=) n.1015G>C c.*392G>C (n.*392G>C) c.681G>C (p.Gly227=) c.183G>C (p.Gly61=) c.453G>C (p.Gly151=) c.744G>C (p.Gly248=) | |
| 5 | g.161331027C>T | CA447691455 | GABRB2 | c.933G>A (p.Gly311=) n.1015G>A c.*392G>A (n.*392G>A) c.681G>A (p.Gly227=) c.183G>A (p.Gly61=) c.453G>A (p.Gly151=) c.744G>A (p.Gly248=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161331028C>A | CA362175306 | GABRB2 | c.932G>T (p.Gly311Val) n.1014G>T c.*391G>T (n.*391G>T) c.680G>T (p.Gly227Val) c.182G>T (p.Gly61Val) c.452G>T (p.Gly151Val) c.743G>T (p.Gly248Val) | |
| 5 | g.161331028C>G | CA362175308 | GABRB2 | c.932G>C (p.Gly311Ala) n.1014G>C c.*391G>C (n.*391G>C) c.680G>C (p.Gly227Ala) c.182G>C (p.Gly61Ala) c.452G>C (p.Gly151Ala) c.743G>C (p.Gly248Ala) | |
| 5 | g.161331028C>T | CA362175307 | GABRB2 | c.932G>A (p.Gly311Glu) n.1014G>A c.*391G>A (n.*391G>A) c.680G>A (p.Gly227Glu) c.182G>A (p.Gly61Glu) c.452G>A (p.Gly151Glu) c.743G>A (p.Gly248Glu) | gnomAD v4 COSMIC COSMIC |
| 5 | g.161331029C>A | CA362175309 | GABRB2 | c.931G>T (p.Gly311Trp) n.1013G>T c.*390G>T (n.*390G>T) c.679G>T (p.Gly227Trp) c.181G>T (p.Gly61Trp) c.451G>T (p.Gly151Trp) c.742G>T (p.Gly248Trp) | |
| 5 | g.161331029C>G | CA362175310 | GABRB2 | c.931G>C (p.Gly311Arg) n.1013G>C c.*390G>C (n.*390G>C) c.679G>C (p.Gly227Arg) c.181G>C (p.Gly61Arg) c.451G>C (p.Gly151Arg) c.742G>C (p.Gly248Arg) | dbSNP |
| 5 | g.161331029C>T | CA362175311 | GABRB2 | c.931G>A (p.Gly311Arg) n.1013G>A c.*390G>A (n.*390G>A) c.679G>A (p.Gly227Arg) c.181G>A (p.Gly61Arg) c.451G>A (p.Gly151Arg) c.742G>A (p.Gly248Arg) | |
| 5 | g.161331029_161331030insAAACACACCCAACA | CA2769169091 | GABRB2 | c.930_931insTGTTGGGTGTGTTT (p.Gly311CysfsTer20) n.1012_1013insTGTTGGGTGTGTTT c.*389_*390insTGTTGGGTGTGTTT (n.*389_*390insTGTTGGGTGTGTTT) c.678_679insTGTTGGGTGTGTTT (p.Gly227CysfsTer20) c.180_181insTGTTGGGTGTGTTT (p.Gly61CysfsTer20) c.450_451insTGTTGGGTGTGTTT (p.Gly151CysfsTer20) c.741_742insTGTTGGGTGTGTTT (p.Gly248CysfsTer20) | |
| 5 | g.161331030C>A | CA362175312 | GABRB2 | c.930G>T (p.Met310Ile) n.1012G>T c.*389G>T (n.*389G>T) c.678G>T (p.Met226Ile) c.180G>T (p.Met60Ile) c.450G>T (p.Met150Ile) c.741G>T (p.Met247Ile) | |
| 5 | g.161331030C= | CA1595983861 | GABRB2 | c.930G= (p.Met310=) n.1012G= c.*389G= (n.*389G=) c.678G= (p.Met226=) c.180G= (p.Met60=) c.450G= (p.Met150=) c.741G= (p.Met247=) | |
| 5 | g.161331030C>G | CA362175313 | GABRB2 | c.930G>C (p.Met310Ile) n.1012G>C c.*389G>C (n.*389G>C) c.678G>C (p.Met226Ile) c.180G>C (p.Met60Ile) c.450G>C (p.Met150Ile) c.741G>C (p.Met247Ile) | |
| 5 | g.161331030C>T | CA362175314 | GABRB2 | c.930G>A (p.Met310Ile) n.1012G>A c.*389G>A (n.*389G>A) c.678G>A (p.Met226Ile) c.180G>A (p.Met60Ile) c.450G>A (p.Met150Ile) c.741G>A (p.Met247Ile) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161331031A>C | CA362175315 | GABRB2 | c.929T>G (p.Met310Arg) n.1011T>G c.*388T>G (n.*388T>G) c.677T>G (p.Met226Arg) c.179T>G (p.Met60Arg) c.449T>G (p.Met150Arg) c.740T>G (p.Met247Arg) | |
| 5 | g.161331031A>G | CA362175316 | GABRB2 | c.929T>C (p.Met310Thr) n.1011T>C c.*388T>C (n.*388T>C) c.677T>C (p.Met226Thr) c.179T>C (p.Met60Thr) c.449T>C (p.Met150Thr) c.740T>C (p.Met247Thr) | ClinVar |
| 5 | g.161331031A>T | CA362175317 | GABRB2 | c.929T>A (p.Met310Lys) n.1011T>A c.*388T>A (n.*388T>A) c.677T>A (p.Met226Lys) c.179T>A (p.Met60Lys) c.449T>A (p.Met150Lys) c.740T>A (p.Met247Lys) | |
| 5 | g.161331032T>A | CA362175318 | GABRB2 | c.928A>T (p.Met310Leu) n.1010A>T c.*387A>T (n.*387A>T) c.676A>T (p.Met226Leu) c.178A>T (p.Met60Leu) c.448A>T (p.Met150Leu) c.739A>T (p.Met247Leu) | |
| 5 | g.161331032T>C | CA362175319 | GABRB2 | c.928A>G (p.Met310Val) n.1010A>G c.*387A>G (n.*387A>G) c.676A>G (p.Met226Val) c.178A>G (p.Met60Val) c.448A>G (p.Met150Val) c.739A>G (p.Met247Val) | |
| 5 | g.161331032T>G | CA362175320 | GABRB2 | c.928A>C (p.Met310Leu) n.1010A>C c.*387A>C (n.*387A>C) c.676A>C (p.Met226Leu) c.178A>C (p.Met60Leu) c.448A>C (p.Met150Leu) c.739A>C (p.Met247Leu) | |
| 5 | g.161331033C>A | CA447691461 | GABRB2 | c.927G>T (p.Leu309=) n.1009G>T c.*386G>T (n.*386G>T) c.675G>T (p.Leu225=) c.177G>T (p.Leu59=) c.447G>T (p.Leu149=) c.738G>T (p.Leu246=) | |
| 5 | g.161331033C>G | CA447691462 | GABRB2 | c.927G>C (p.Leu309=) n.1009G>C c.*386G>C (n.*386G>C) c.675G>C (p.Leu225=) c.177G>C (p.Leu59=) c.447G>C (p.Leu149=) c.738G>C (p.Leu246=) | |
| 5 | g.161331033C>T | CA447691463 | GABRB2 | c.927G>A (p.Leu309=) n.1009G>A c.*386G>A (n.*386G>A) c.675G>A (p.Leu225=) c.177G>A (p.Leu59=) c.447G>A (p.Leu149=) c.738G>A (p.Leu246=) | |
| 5 | g.161331034A>C | CA362175323 | GABRB2 | c.926T>G (p.Leu309Arg) n.1008T>G c.*385T>G (n.*385T>G) c.674T>G (p.Leu225Arg) c.176T>G (p.Leu59Arg) c.446T>G (p.Leu149Arg) c.737T>G (p.Leu246Arg) | |
| 5 | g.161331034A>G | CA362175321 | GABRB2 | c.926T>C (p.Leu309Pro) n.1008T>C c.*385T>C (n.*385T>C) c.674T>C (p.Leu225Pro) c.176T>C (p.Leu59Pro) c.446T>C (p.Leu149Pro) c.737T>C (p.Leu246Pro) | ClinVar |
| 5 | g.161331034A>T | CA362175322 | GABRB2 | c.926T>A (p.Leu309Gln) n.1008T>A c.*385T>A (n.*385T>A) c.674T>A (p.Leu225Gln) c.176T>A (p.Leu59Gln) c.446T>A (p.Leu149Gln) c.737T>A (p.Leu246Gln) | |
| 5 | g.161331035G>A | CA447691468 | GABRB2 | c.925C>T (p.Leu309=) n.1007C>T c.*384C>T (n.*384C>T) c.673C>T (p.Leu225=) c.175C>T (p.Leu59=) c.445C>T (p.Leu149=) c.736C>T (p.Leu246=) | gnomAD v4 |
| 5 | g.161331035G>C | CA362175324 | GABRB2 | c.925C>G (p.Leu309Val) n.1007C>G c.*384C>G (n.*384C>G) c.673C>G (p.Leu225Val) c.175C>G (p.Leu59Val) c.445C>G (p.Leu149Val) c.736C>G (p.Leu246Val) | |
| 5 | g.161331035G= | CA1595983862 | GABRB2 | c.925C= (p.Leu309=) n.1007C= c.*384C= (n.*384C=) c.673C= (p.Leu225=) c.175C= (p.Leu59=) c.445C= (p.Leu149=) c.736C= (p.Leu246=) | |
| 5 | g.161331035G>T | CA3543457 | GABRB2 | c.925C>A (p.Leu309Met) n.1007C>A c.*384C>A (n.*384C>A) c.673C>A (p.Leu225Met) c.175C>A (p.Leu59Met) c.445C>A (p.Leu149Met) c.736C>A (p.Leu246Met) | dbSNP ExAC gnomAD v2 |
| 5 | g.161331036G>A | CA447691469 | GABRB2 | c.924C>T (p.Tyr308=) n.1006C>T c.*383C>T (n.*383C>T) c.672C>T (p.Tyr224=) c.174C>T (p.Tyr58=) c.444C>T (p.Tyr148=) c.735C>T (p.Tyr245=) | |
| 5 | g.161331036G>C | CA362175325 | GABRB2 | c.924C>G (p.Tyr308Ter) n.1006C>G c.*383C>G (n.*383C>G) c.672C>G (p.Tyr224Ter) c.174C>G (p.Tyr58Ter) c.444C>G (p.Tyr148Ter) c.735C>G (p.Tyr245Ter) | |
| 5 | g.161331036G>T | CA362175326 | GABRB2 | c.924C>A (p.Tyr308Ter) n.1006C>A c.*383C>A (n.*383C>A) c.672C>A (p.Tyr224Ter) c.174C>A (p.Tyr58Ter) c.444C>A (p.Tyr148Ter) c.735C>A (p.Tyr245Ter) | |
| 5 | g.161331037T>A | CA362175327 | GABRB2 | c.923A>T (p.Tyr308Phe) n.1005A>T c.*382A>T (n.*382A>T) c.671A>T (p.Tyr224Phe) c.173A>T (p.Tyr58Phe) c.443A>T (p.Tyr148Phe) c.734A>T (p.Tyr245Phe) | gnomAD v4 |
| 5 | g.161331037T>C | CA362175328 | GABRB2 | c.923A>G (p.Tyr308Cys) n.1005A>G c.*382A>G (n.*382A>G) c.671A>G (p.Tyr224Cys) c.173A>G (p.Tyr58Cys) c.443A>G (p.Tyr148Cys) c.734A>G (p.Tyr245Cys) | |
| 5 | g.161331037T>G | CA362175329 | GABRB2 | c.923A>C (p.Tyr308Ser) n.1005A>C c.*382A>C (n.*382A>C) c.671A>C (p.Tyr224Ser) c.173A>C (p.Tyr58Ser) c.443A>C (p.Tyr148Ser) c.734A>C (p.Tyr245Ser) | |
| 5 | g.161331038A>C | CA362175330 | GABRB2 | c.922T>G (p.Tyr308Asp) n.1004T>G c.*381T>G (n.*381T>G) c.670T>G (p.Tyr224Asp) c.172T>G (p.Tyr58Asp) c.442T>G (p.Tyr148Asp) c.733T>G (p.Tyr245Asp) | |
| 5 | g.161331038A>G | CA362175331 | GABRB2 | c.922T>C (p.Tyr308His) n.1004T>C c.*381T>C (n.*381T>C) c.670T>C (p.Tyr224His) c.172T>C (p.Tyr58His) c.442T>C (p.Tyr148His) c.733T>C (p.Tyr245His) | |
| 5 | g.161331038A>T | CA362175332 | GABRB2 | c.922T>A (p.Tyr308Asn) n.1004T>A c.*381T>A (n.*381T>A) c.670T>A (p.Tyr224Asn) c.172T>A (p.Tyr58Asn) c.442T>A (p.Tyr148Asn) c.733T>A (p.Tyr245Asn) | |
| 5 | g.161331039C>A | CA362175335 | GABRB2 | c.921G>T (p.Met307Ile) n.1003G>T c.*380G>T (n.*380G>T) c.669G>T (p.Met223Ile) c.171G>T (p.Met57Ile) c.441G>T (p.Met147Ile) c.732G>T (p.Met244Ile) | |
| 5 | g.161331039C>G | CA362175334 | GABRB2 | c.921G>C (p.Met307Ile) n.1003G>C c.*380G>C (n.*380G>C) c.669G>C (p.Met223Ile) c.171G>C (p.Met57Ile) c.441G>C (p.Met147Ile) c.732G>C (p.Met244Ile) | |
| 5 | g.161331039C>T | CA362175333 | GABRB2 | c.921G>A (p.Met307Ile) n.1003G>A c.*380G>A (n.*380G>A) c.669G>A (p.Met223Ile) c.171G>A (p.Met57Ile) c.441G>A (p.Met147Ile) c.732G>A (p.Met244Ile) | |
| 5 | g.161331040A>C | CA362175336 | GABRB2 | c.920T>G (p.Met307Arg) n.1002T>G c.*379T>G (n.*379T>G) c.668T>G (p.Met223Arg) c.170T>G (p.Met57Arg) c.440T>G (p.Met147Arg) c.731T>G (p.Met244Arg) | |
| 5 | g.161331040A>G | CA362175337 | GABRB2 | c.920T>C (p.Met307Thr) n.1002T>C c.*379T>C (n.*379T>C) c.668T>C (p.Met223Thr) c.170T>C (p.Met57Thr) c.440T>C (p.Met147Thr) c.731T>C (p.Met244Thr) | gnomAD v4 |
| 5 | g.161331040A>T | CA362175338 | GABRB2 | c.920T>A (p.Met307Lys) n.1002T>A c.*379T>A (n.*379T>A) c.668T>A (p.Met223Lys) c.170T>A (p.Met57Lys) c.440T>A (p.Met147Lys) c.731T>A (p.Met244Lys) | |
| 5 | g.161331041T>A | CA362175339 | GABRB2 | c.919A>T (p.Met307Leu) n.1001A>T c.*378A>T (n.*378A>T) c.667A>T (p.Met223Leu) c.169A>T (p.Met57Leu) c.439A>T (p.Met147Leu) c.730A>T (p.Met244Leu) | gnomAD v4 |
| 5 | g.161331041T>C | CA362175340 | GABRB2 | c.919A>G (p.Met307Val) n.1001A>G c.*378A>G (n.*378A>G) c.667A>G (p.Met223Val) c.169A>G (p.Met57Val) c.439A>G (p.Met147Val) c.730A>G (p.Met244Val) | |
| 5 | g.161331041T>G | CA362175341 | GABRB2 | c.919A>C (p.Met307Leu) n.1001A>C c.*378A>C (n.*378A>C) c.667A>C (p.Met223Leu) c.169A>C (p.Met57Leu) c.439A>C (p.Met147Leu) c.730A>C (p.Met244Leu) | |
| 5 | g.161331042G>A | CA447691479 | GABRB2 | c.918C>T (p.Asp306=) n.1000C>T c.*377C>T (n.*377C>T) c.666C>T (p.Asp222=) c.168C>T (p.Asp56=) c.438C>T (p.Asp146=) c.729C>T (p.Asp243=) | |
| 5 | g.161331042G>C | CA362175342 | GABRB2 | c.918C>G (p.Asp306Glu) n.1000C>G c.*377C>G (n.*377C>G) c.666C>G (p.Asp222Glu) c.168C>G (p.Asp56Glu) c.438C>G (p.Asp146Glu) c.729C>G (p.Asp243Glu) | |
| 5 | g.161331042G>T | CA362175343 | GABRB2 | c.918C>A (p.Asp306Glu) n.1000C>A c.*377C>A (n.*377C>A) c.666C>A (p.Asp222Glu) c.168C>A (p.Asp56Glu) c.438C>A (p.Asp146Glu) c.729C>A (p.Asp243Glu) | |
| 5 | g.161331043T>A | CA362175344 | GABRB2 | c.917A>T (p.Asp306Val) n.999A>T c.*376A>T (n.*376A>T) c.665A>T (p.Asp222Val) c.167A>T (p.Asp56Val) c.437A>T (p.Asp146Val) c.728A>T (p.Asp243Val) | |
| 5 | g.161331043T>C | CA362175345 | GABRB2 | c.917A>G (p.Asp306Gly) n.999A>G c.*376A>G (n.*376A>G) c.665A>G (p.Asp222Gly) c.167A>G (p.Asp56Gly) c.437A>G (p.Asp146Gly) c.728A>G (p.Asp243Gly) | |
| 5 | g.161331043T>G | CA362175346 | GABRB2 | c.917A>C (p.Asp306Ala) n.999A>C c.*376A>C (n.*376A>C) c.665A>C (p.Asp222Ala) c.167A>C (p.Asp56Ala) c.437A>C (p.Asp146Ala) c.728A>C (p.Asp243Ala) | |
| 5 | g.161331044C>A | CA362175349 | GABRB2 | c.916G>T (p.Asp306Tyr) n.998G>T c.*375G>T (n.*375G>T) c.664G>T (p.Asp222Tyr) c.166G>T (p.Asp56Tyr) c.436G>T (p.Asp146Tyr) c.727G>T (p.Asp243Tyr) | COSMIC COSMIC |
| 5 | g.161331044C>G | CA362175348 | GABRB2 | c.916G>C (p.Asp306His) n.998G>C c.*375G>C (n.*375G>C) c.664G>C (p.Asp222His) c.166G>C (p.Asp56His) c.436G>C (p.Asp146His) c.727G>C (p.Asp243His) | |
| 5 | g.161331044C>T | CA362175347 | GABRB2 | c.916G>A (p.Asp306Asn) n.998G>A c.*375G>A (n.*375G>A) c.664G>A (p.Asp222Asn) c.166G>A (p.Asp56Asn) c.436G>A (p.Asp146Asn) c.727G>A (p.Asp243Asn) | COSMIC COSMIC |
| 5 | g.161331045A>C | CA362175350 | GABRB2 | c.915T>G (p.Ile305Met) n.997T>G c.*374T>G (n.*374T>G) c.663T>G (p.Ile221Met) c.165T>G (p.Ile55Met) c.435T>G (p.Ile145Met) c.726T>G (p.Ile242Met) | |
| 5 | g.161331045A>G | CA447691484 | GABRB2 | c.915T>C (p.Ile305=) n.997T>C c.*374T>C (n.*374T>C) c.663T>C (p.Ile221=) c.165T>C (p.Ile55=) c.435T>C (p.Ile145=) c.726T>C (p.Ile242=) | |
| 5 | g.161331045A>T | CA447691485 | GABRB2 | c.915T>A (p.Ile305=) n.997T>A c.*374T>A (n.*374T>A) c.663T>A (p.Ile221=) c.165T>A (p.Ile55=) c.435T>A (p.Ile145=) c.726T>A (p.Ile242=) | |
| 5 | g.161331046A= | CA1595983863 | GABRB2 | c.914T= (p.Ile305=) n.996T= c.*373T= (n.*373T=) c.662T= (p.Ile221=) c.164T= (p.Ile55=) c.434T= (p.Ile145=) c.725T= (p.Ile242=) | |
| 5 | g.161331046A>C | CA362175351 | GABRB2 | c.914T>G (p.Ile305Ser) n.996T>G c.*373T>G (n.*373T>G) c.662T>G (p.Ile221Ser) c.164T>G (p.Ile55Ser) c.434T>G (p.Ile145Ser) c.725T>G (p.Ile242Ser) | |
| 5 | g.161331046A>G | CA362175352 | GABRB2 | c.914T>C (p.Ile305Thr) n.996T>C c.*373T>C (n.*373T>C) c.662T>C (p.Ile221Thr) c.164T>C (p.Ile55Thr) c.434T>C (p.Ile145Thr) c.725T>C (p.Ile242Thr) | ClinVar dbSNP |
| 5 | g.161331046A>T | CA362175353 | GABRB2 | c.914T>A (p.Ile305Asn) n.996T>A c.*373T>A (n.*373T>A) c.662T>A (p.Ile221Asn) c.164T>A (p.Ile55Asn) c.434T>A (p.Ile145Asn) c.725T>A (p.Ile242Asn) | |
| 5 | g.161331047T>A | CA362175354 | GABRB2 | c.913A>T (p.Ile305Phe) n.995A>T c.*372A>T (n.*372A>T) c.661A>T (p.Ile221Phe) c.163A>T (p.Ile55Phe) c.433A>T (p.Ile145Phe) c.724A>T (p.Ile242Phe) | |
| 5 | g.161331047T>C | CA362175355 | GABRB2 | c.913A>G (p.Ile305Val) n.995A>G c.*372A>G (n.*372A>G) c.661A>G (p.Ile221Val) c.163A>G (p.Ile55Val) c.433A>G (p.Ile145Val) c.724A>G (p.Ile242Val) | |
| 5 | g.161331047T>G | CA362175356 | GABRB2 | c.913A>C (p.Ile305Leu) n.995A>C c.*372A>C (n.*372A>C) c.661A>C (p.Ile221Leu) c.163A>C (p.Ile55Leu) c.433A>C (p.Ile145Leu) c.724A>C (p.Ile242Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161331047T= | CA1595983864 | GABRB2 | c.913A= (p.Ile305=) n.995A= c.*372A= (n.*372A=) c.661A= (p.Ile221=) c.163A= (p.Ile55=) c.433A= (p.Ile145=) c.724A= (p.Ile242=) | |
| 5 | g.161331048G>A | CA447691491 | GABRB2 | c.912C>T (p.Ala304=) n.994C>T c.*371C>T (n.*371C>T) c.660C>T (p.Ala220=) c.162C>T (p.Ala54=) c.432C>T (p.Ala144=) c.723C>T (p.Ala241=) | dbSNP |
| 5 | g.161331048G>C | CA447691492 | GABRB2 | c.912C>G (p.Ala304=) n.994C>G c.*371C>G (n.*371C>G) c.660C>G (p.Ala220=) c.162C>G (p.Ala54=) c.432C>G (p.Ala144=) c.723C>G (p.Ala241=) | |
| 5 | g.161331048G= | CA1595983865 | GABRB2 | c.912C= (p.Ala304=) n.994C= c.*371C= (n.*371C=) c.660C= (p.Ala220=) c.162C= (p.Ala54=) c.432C= (p.Ala144=) c.723C= (p.Ala241=) | |
| 5 | g.161331048G>T | CA447691495 | GABRB2 | c.912C>A (p.Ala304=) n.994C>A c.*371C>A (n.*371C>A) c.660C>A (p.Ala220=) c.162C>A (p.Ala54=) c.432C>A (p.Ala144=) c.723C>A (p.Ala241=) | |
| 5 | g.161331049G>A | CA362175357 | GABRB2 | c.911C>T (p.Ala304Val) n.993C>T c.*370C>T (n.*370C>T) c.659C>T (p.Ala220Val) c.161C>T (p.Ala54Val) c.431C>T (p.Ala144Val) c.722C>T (p.Ala241Val) | ClinVar dbSNP |
| 5 | g.161331049G>C | CA362175358 | GABRB2 | c.911C>G (p.Ala304Gly) n.993C>G c.*370C>G (n.*370C>G) c.659C>G (p.Ala220Gly) c.161C>G (p.Ala54Gly) c.431C>G (p.Ala144Gly) c.722C>G (p.Ala241Gly) | |
| 5 | g.161331049G= | CA1595983866 | GABRB2 | c.911C= (p.Ala304=) n.993C= c.*370C= (n.*370C=) c.659C= (p.Ala220=) c.161C= (p.Ala54=) c.431C= (p.Ala144=) c.722C= (p.Ala241=) | |
| 5 | g.161331049G>T | CA362175359 | GABRB2 | c.911C>A (p.Ala304Asp) n.993C>A c.*370C>A (n.*370C>A) c.659C>A (p.Ala220Asp) c.161C>A (p.Ala54Asp) c.431C>A (p.Ala144Asp) c.722C>A (p.Ala241Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161331050C>A | CA362175360 | GABRB2 | c.910G>T (p.Ala304Ser) n.992G>T c.*369G>T (n.*369G>T) c.658G>T (p.Ala220Ser) c.160G>T (p.Ala54Ser) c.430G>T (p.Ala144Ser) c.721G>T (p.Ala241Ser) | |
| 5 | g.161331050C= | CA1595983867 | GABRB2 | c.910G= (p.Ala304=) n.992G= c.*369G= (n.*369G=) c.658G= (p.Ala220=) c.160G= (p.Ala54=) c.430G= (p.Ala144=) c.721G= (p.Ala241=) | |
| 5 | g.161331050C>G | CA362175361 | GABRB2 | c.910G>C (p.Ala304Pro) n.992G>C c.*369G>C (n.*369G>C) c.658G>C (p.Ala220Pro) c.160G>C (p.Ala54Pro) c.430G>C (p.Ala144Pro) c.721G>C (p.Ala241Pro) | |
| 5 | g.161331050C>T | CA362175362 | GABRB2 | c.910G>A (p.Ala304Thr) n.992G>A c.*369G>A (n.*369G>A) c.658G>A (p.Ala220Thr) c.160G>A (p.Ala54Thr) c.430G>A (p.Ala144Thr) c.721G>A (p.Ala241Thr) | ClinVar dbSNP |
| 5 | g.161331051C>A | CA10588395 | GABRB2 | c.909G>T (p.Lys303Asn) n.991G>T c.*368G>T (n.*368G>T) c.657G>T (p.Lys219Asn) c.159G>T (p.Lys53Asn) c.429G>T (p.Lys143Asn) c.720G>T (p.Lys240Asn) | ClinVar dbSNP |
| 5 | g.161331051C= | CA1595983868 | GABRB2 | c.909G= (p.Lys303=) n.991G= c.*368G= (n.*368G=) c.657G= (p.Lys219=) c.159G= (p.Lys53=) c.429G= (p.Lys143=) c.720G= (p.Lys240=) | |
| 5 | g.161331051C>G | CA362175363 | GABRB2 | c.909G>C (p.Lys303Asn) n.991G>C c.*368G>C (n.*368G>C) c.657G>C (p.Lys219Asn) c.159G>C (p.Lys53Asn) c.429G>C (p.Lys143Asn) c.720G>C (p.Lys240Asn) | |
| 5 | g.161331051C>T | CA447691499 | GABRB2 | c.909G>A (p.Lys303=) n.991G>A c.*368G>A (n.*368G>A) c.657G>A (p.Lys219=) c.159G>A (p.Lys53=) c.429G>A (p.Lys143=) c.720G>A (p.Lys240=) | ClinVar dbSNP |
| 5 | g.161331052T>A | CA362175364 | GABRB2 | c.908A>T (p.Lys303Met) n.990A>T c.*367A>T (n.*367A>T) c.656A>T (p.Lys219Met) c.158A>T (p.Lys53Met) c.428A>T (p.Lys143Met) c.719A>T (p.Lys240Met) | |
| 5 | g.161331052T>C | CA362175365 | GABRB2 | c.908A>G (p.Lys303Arg) n.990A>G c.*367A>G (n.*367A>G) c.656A>G (p.Lys219Arg) c.158A>G (p.Lys53Arg) c.428A>G (p.Lys143Arg) c.719A>G (p.Lys240Arg) | ClinVar dbSNP |
| 5 | g.161331052T>G | CA362175366 | GABRB2 | c.908A>C (p.Lys303Thr) n.990A>C c.*367A>C (n.*367A>C) c.656A>C (p.Lys219Thr) c.158A>C (p.Lys53Thr) c.428A>C (p.Lys143Thr) c.719A>C (p.Lys240Thr) | ClinVar dbSNP |
| 5 | g.161331052T= | CA1595983869 | GABRB2 | c.908A= (p.Lys303=) n.990A= c.*367A= (n.*367A=) c.656A= (p.Lys219=) c.158A= (p.Lys53=) c.428A= (p.Lys143=) c.719A= (p.Lys240=) | |
| 5 | g.161331053T>A | CA362175367 | GABRB2 | c.907A>T (p.Lys303Ter) n.989A>T c.*366A>T (n.*366A>T) c.655A>T (p.Lys219Ter) c.157A>T (p.Lys53Ter) c.427A>T (p.Lys143Ter) c.718A>T (p.Lys240Ter) | |
| 5 | g.161331053T>C | CA362175368 | GABRB2 | c.907A>G (p.Lys303Glu) n.989A>G c.*366A>G (n.*366A>G) c.655A>G (p.Lys219Glu) c.157A>G (p.Lys53Glu) c.427A>G (p.Lys143Glu) c.718A>G (p.Lys240Glu) | ClinVar |
| 5 | g.161331053T>G | CA362175369 | GABRB2 | c.907A>C (p.Lys303Gln) n.989A>C c.*366A>C (n.*366A>C) c.655A>C (p.Lys219Gln) c.157A>C (p.Lys53Gln) c.427A>C (p.Lys143Gln) c.718A>C (p.Lys240Gln) | |
| 5 | g.161331054C>A | CA447691502 | GABRB2 | c.906G>T (p.Val302=) n.988G>T c.*365G>T (n.*365G>T) c.654G>T (p.Val218=) c.156G>T (p.Val52=) c.426G>T (p.Val142=) c.717G>T (p.Val239=) | |
| 5 | g.161331054C>G | CA447691503 | GABRB2 | c.906G>C (p.Val302=) n.988G>C c.*365G>C (n.*365G>C) c.654G>C (p.Val218=) c.156G>C (p.Val52=) c.426G>C (p.Val142=) c.717G>C (p.Val239=) | |
| 5 | g.161331054C>T | CA447691504 | GABRB2 | c.906G>A (p.Val302=) n.988G>A c.*365G>A (n.*365G>A) c.654G>A (p.Val218=) c.156G>A (p.Val52=) c.426G>A (p.Val142=) c.717G>A (p.Val239=) | |
| 5 | g.161331055A>C | CA362175372 | GABRB2 | c.905T>G (p.Val302Gly) n.987T>G c.*364T>G (n.*364T>G) c.653T>G (p.Val218Gly) c.155T>G (p.Val52Gly) c.425T>G (p.Val142Gly) c.716T>G (p.Val239Gly) | |
| 5 | g.161331055A>G | CA362175370 | GABRB2 | c.905T>C (p.Val302Ala) n.987T>C c.*364T>C (n.*364T>C) c.653T>C (p.Val218Ala) c.155T>C (p.Val52Ala) c.425T>C (p.Val142Ala) c.716T>C (p.Val239Ala) | |
| 5 | g.161331055A>T | CA362175371 | GABRB2 | c.905T>A (p.Val302Glu) n.987T>A c.*364T>A (n.*364T>A) c.653T>A (p.Val218Glu) c.155T>A (p.Val52Glu) c.425T>A (p.Val142Glu) c.716T>A (p.Val239Glu) | |
| 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 |