| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161294212G>A | CA3543322 | GABRB2 | c.1408C>T (p.Arg470Cys) c.*753C>T (n.*753C>T) c.1294C>T (p.Arg432Cys) c.1042C>T (p.Arg348Cys) c.544C>T (p.Arg182Cys) c.814C>T (p.Arg272Cys) c.1105C>T (p.Arg369Cys) c.658C>T (p.Arg220Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294212G>C | CA362173210 | GABRB2 | c.1408C>G (p.Arg470Gly) c.*753C>G (n.*753C>G) c.1294C>G (p.Arg432Gly) c.1042C>G (p.Arg348Gly) c.544C>G (p.Arg182Gly) c.814C>G (p.Arg272Gly) c.1105C>G (p.Arg369Gly) c.658C>G (p.Arg220Gly) | gnomAD v4 |
| 5 | g.161294212G= | CA1595966734 | GABRB2 | c.1408C= (p.Arg470=) c.*753C= (n.*753C=) c.1294C= (p.Arg432=) c.1042C= (p.Arg348=) c.544C= (p.Arg182=) c.814C= (p.Arg272=) c.1105C= (p.Arg369=) c.658C= (p.Arg220=) | |
| 5 | g.161294212G>T | CA362173209 | GABRB2 | c.1408C>A (p.Arg470Ser) c.*753C>A (n.*753C>A) c.1294C>A (p.Arg432Ser) c.1042C>A (p.Arg348Ser) c.544C>A (p.Arg182Ser) c.814C>A (p.Arg272Ser) c.1105C>A (p.Arg369Ser) c.658C>A (p.Arg220Ser) | |
| 5 | g.161294213T>A | CA362173211 | GABRB2 | c.1407A>T (p.Arg469Ser) c.*752A>T (n.*752A>T) c.1293A>T (p.Arg431Ser) c.1041A>T (p.Arg347Ser) c.543A>T (p.Arg181Ser) c.813A>T (p.Arg271Ser) c.1104A>T (p.Arg368Ser) c.657A>T (p.Arg219Ser) | |
| 5 | g.161294213T>C | CA447604680 | GABRB2 | c.1407A>G (p.Arg469=) c.*752A>G (n.*752A>G) c.1293A>G (p.Arg431=) c.1041A>G (p.Arg347=) c.543A>G (p.Arg181=) c.813A>G (p.Arg271=) c.1104A>G (p.Arg368=) c.657A>G (p.Arg219=) | dbSNP |
| 5 | g.161294213T>G | CA362173212 | GABRB2 | c.1407A>C (p.Arg469Ser) c.*752A>C (n.*752A>C) c.1293A>C (p.Arg431Ser) c.1041A>C (p.Arg347Ser) c.543A>C (p.Arg181Ser) c.813A>C (p.Arg271Ser) c.1104A>C (p.Arg368Ser) c.657A>C (p.Arg219Ser) | |
| 5 | g.161294214C>A | CA362173213 | GABRB2 | c.1406G>T (p.Arg469Ile) c.*751G>T (n.*751G>T) c.1292G>T (p.Arg431Ile) c.1040G>T (p.Arg347Ile) c.542G>T (p.Arg181Ile) c.812G>T (p.Arg271Ile) c.1103G>T (p.Arg368Ile) c.656G>T (p.Arg219Ile) | |
| 5 | g.161294214C>G | CA362173214 | GABRB2 | c.1406G>C (p.Arg469Thr) c.*751G>C (n.*751G>C) c.1292G>C (p.Arg431Thr) c.1040G>C (p.Arg347Thr) c.542G>C (p.Arg181Thr) c.812G>C (p.Arg271Thr) c.1103G>C (p.Arg368Thr) c.656G>C (p.Arg219Thr) | |
| 5 | g.161294214C>T | CA362173215 | GABRB2 | c.1406G>A (p.Arg469Lys) c.*751G>A (n.*751G>A) c.1292G>A (p.Arg431Lys) c.1040G>A (p.Arg347Lys) c.542G>A (p.Arg181Lys) c.812G>A (p.Arg271Lys) c.1103G>A (p.Arg368Lys) c.656G>A (p.Arg219Lys) | |
| 5 | g.161294215T>A | CA362173216 | GABRB2 | c.1405A>T (p.Arg469Ter) c.*750A>T (n.*750A>T) c.1291A>T (p.Arg431Ter) c.1039A>T (p.Arg347Ter) c.541A>T (p.Arg181Ter) c.811A>T (p.Arg271Ter) c.1102A>T (p.Arg368Ter) c.655A>T (p.Arg219Ter) | |
| 5 | g.161294215T>C | CA362173217 | GABRB2 | c.1405A>G (p.Arg469Gly) c.*750A>G (n.*750A>G) c.1291A>G (p.Arg431Gly) c.1039A>G (p.Arg347Gly) c.541A>G (p.Arg181Gly) c.811A>G (p.Arg271Gly) c.1102A>G (p.Arg368Gly) c.655A>G (p.Arg219Gly) | |
| 5 | g.161294215T>G | CA447604681 | GABRB2 | c.1405A>C (p.Arg469=) c.*750A>C (n.*750A>C) c.1291A>C (p.Arg431=) c.1039A>C (p.Arg347=) c.541A>C (p.Arg181=) c.811A>C (p.Arg271=) c.1102A>C (p.Arg368=) c.655A>C (p.Arg219=) | |
| 5 | g.161294216C>A | CA362173218 | GABRB2 | c.1404G>T (p.Arg468Ser) c.*749G>T (n.*749G>T) c.1290G>T (p.Arg430Ser) c.1038G>T (p.Arg346Ser) c.540G>T (p.Arg180Ser) c.810G>T (p.Arg270Ser) c.1101G>T (p.Arg367Ser) c.654G>T (p.Arg218Ser) | |
| 5 | g.161294216C>G | CA362173219 | GABRB2 | c.1404G>C (p.Arg468Ser) c.*749G>C (n.*749G>C) c.1290G>C (p.Arg430Ser) c.1038G>C (p.Arg346Ser) c.540G>C (p.Arg180Ser) c.810G>C (p.Arg270Ser) c.1101G>C (p.Arg367Ser) c.654G>C (p.Arg218Ser) | COSMIC COSMIC |
| 5 | g.161294216C>T | CA447604682 | GABRB2 | c.1404G>A (p.Arg468=) c.*749G>A (n.*749G>A) c.1290G>A (p.Arg430=) c.1038G>A (p.Arg346=) c.540G>A (p.Arg180=) c.810G>A (p.Arg270=) c.1101G>A (p.Arg367=) c.654G>A (p.Arg218=) | |
| 5 | g.161294217C>A | CA362173220 | GABRB2 | c.1403G>T (p.Arg468Met) c.*748G>T (n.*748G>T) c.1289G>T (p.Arg430Met) c.1037G>T (p.Arg346Met) c.539G>T (p.Arg180Met) c.809G>T (p.Arg270Met) c.1100G>T (p.Arg367Met) c.653G>T (p.Arg218Met) | |
| 5 | g.161294217C>G | CA362173221 | GABRB2 | c.1403G>C (p.Arg468Thr) c.*748G>C (n.*748G>C) c.1289G>C (p.Arg430Thr) c.1037G>C (p.Arg346Thr) c.539G>C (p.Arg180Thr) c.809G>C (p.Arg270Thr) c.1100G>C (p.Arg367Thr) c.653G>C (p.Arg218Thr) | |
| 5 | g.161294217C>T | CA362173222 | GABRB2 | c.1403G>A (p.Arg468Lys) c.*748G>A (n.*748G>A) c.1289G>A (p.Arg430Lys) c.1037G>A (p.Arg346Lys) c.539G>A (p.Arg180Lys) c.809G>A (p.Arg270Lys) c.1100G>A (p.Arg367Lys) c.653G>A (p.Arg218Lys) | dbSNP |
| 5 | g.161294218T>A | CA362173224 | GABRB2 | c.1402A>T (p.Arg468Trp) c.*747A>T (n.*747A>T) c.1288A>T (p.Arg430Trp) c.1036A>T (p.Arg346Trp) c.538A>T (p.Arg180Trp) c.808A>T (p.Arg270Trp) c.1099A>T (p.Arg367Trp) c.652A>T (p.Arg218Trp) | |
| 5 | g.161294218T>C | CA362173223 | GABRB2 | c.1402A>G (p.Arg468Gly) c.*747A>G (n.*747A>G) c.1288A>G (p.Arg430Gly) c.1036A>G (p.Arg346Gly) c.538A>G (p.Arg180Gly) c.808A>G (p.Arg270Gly) c.1099A>G (p.Arg367Gly) c.652A>G (p.Arg218Gly) | |
| 5 | g.161294218T>G | CA447604683 | GABRB2 | c.1402A>C (p.Arg468=) c.*747A>C (n.*747A>C) c.1288A>C (p.Arg430=) c.1036A>C (p.Arg346=) c.538A>C (p.Arg180=) c.808A>C (p.Arg270=) c.1099A>C (p.Arg367=) c.652A>C (p.Arg218=) | |
| 5 | g.161294219C>A | CA447604684 | GABRB2 | c.1401G>T (p.Leu467=) c.*746G>T (n.*746G>T) c.1287G>T (p.Leu429=) c.1035G>T (p.Leu345=) c.537G>T (p.Leu179=) c.807G>T (p.Leu269=) c.1098G>T (p.Leu366=) c.651G>T (p.Leu217=) | |
| 5 | g.161294219C= | CA1595966736 | GABRB2 | c.1401G= (p.Leu467=) c.*746G= (n.*746G=) c.1287G= (p.Leu429=) c.1035G= (p.Leu345=) c.537G= (p.Leu179=) c.807G= (p.Leu269=) c.1098G= (p.Leu366=) c.651G= (p.Leu217=) | |
| 5 | g.161294219C>G | CA447604685 | GABRB2 | c.1401G>C (p.Leu467=) c.*746G>C (n.*746G>C) c.1287G>C (p.Leu429=) c.1035G>C (p.Leu345=) c.537G>C (p.Leu179=) c.807G>C (p.Leu269=) c.1098G>C (p.Leu366=) c.651G>C (p.Leu217=) | |
| 5 | g.161294219C>T | CA3543323 | GABRB2 | c.1401G>A (p.Leu467=) c.*746G>A (n.*746G>A) c.1287G>A (p.Leu429=) c.1035G>A (p.Leu345=) c.537G>A (p.Leu179=) c.807G>A (p.Leu269=) c.1098G>A (p.Leu366=) c.651G>A (p.Leu217=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294220A>C | CA362173225 | GABRB2 | c.1400T>G (p.Leu467Arg) c.*745T>G (n.*745T>G) c.1286T>G (p.Leu429Arg) c.1034T>G (p.Leu345Arg) c.536T>G (p.Leu179Arg) c.806T>G (p.Leu269Arg) c.1097T>G (p.Leu366Arg) c.650T>G (p.Leu217Arg) | |
| 5 | g.161294220A>G | CA362173226 | GABRB2 | c.1400T>C (p.Leu467Pro) c.*745T>C (n.*745T>C) c.1286T>C (p.Leu429Pro) c.1034T>C (p.Leu345Pro) c.536T>C (p.Leu179Pro) c.806T>C (p.Leu269Pro) c.1097T>C (p.Leu366Pro) c.650T>C (p.Leu217Pro) | |
| 5 | g.161294220A>T | CA362173227 | GABRB2 | c.1400T>A (p.Leu467Gln) c.*745T>A (n.*745T>A) c.1286T>A (p.Leu429Gln) c.1034T>A (p.Leu345Gln) c.536T>A (p.Leu179Gln) c.806T>A (p.Leu269Gln) c.1097T>A (p.Leu366Gln) c.650T>A (p.Leu217Gln) | |
| 5 | g.161294221G>A | CA447604686 | GABRB2 | c.1399C>T (p.Leu467=) c.*744C>T (n.*744C>T) c.1285C>T (p.Leu429=) c.1033C>T (p.Leu345=) c.535C>T (p.Leu179=) c.805C>T (p.Leu269=) c.1096C>T (p.Leu366=) c.649C>T (p.Leu217=) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294221G>C | CA362173228 | GABRB2 | c.1399C>G (p.Leu467Val) c.*744C>G (n.*744C>G) c.1285C>G (p.Leu429Val) c.1033C>G (p.Leu345Val) c.535C>G (p.Leu179Val) c.805C>G (p.Leu269Val) c.1096C>G (p.Leu366Val) c.649C>G (p.Leu217Val) | |
| 5 | g.161294221G>T | CA362173229 | GABRB2 | c.1399C>A (p.Leu467Met) c.*744C>A (n.*744C>A) c.1285C>A (p.Leu429Met) c.1033C>A (p.Leu345Met) c.535C>A (p.Leu179Met) c.805C>A (p.Leu269Met) c.1096C>A (p.Leu366Met) c.649C>A (p.Leu217Met) | dbSNP |
| 5 | g.161294222G>A | CA447604687 | GABRB2 | c.1398C>T (p.Arg466=) c.*743C>T (n.*743C>T) c.1284C>T (p.Arg428=) c.1032C>T (p.Arg344=) c.534C>T (p.Arg178=) c.804C>T (p.Arg268=) c.1095C>T (p.Arg365=) c.648C>T (p.Arg216=) | ClinVar dbSNP |
| 5 | g.161294222G>C | CA447604688 | GABRB2 | c.1398C>G (p.Arg466=) c.*743C>G (n.*743C>G) c.1284C>G (p.Arg428=) c.1032C>G (p.Arg344=) c.534C>G (p.Arg178=) c.804C>G (p.Arg268=) c.1095C>G (p.Arg365=) c.648C>G (p.Arg216=) | |
| 5 | g.161294222G>T | CA447604689 | GABRB2 | c.1398C>A (p.Arg466=) c.*743C>A (n.*743C>A) c.1284C>A (p.Arg428=) c.1032C>A (p.Arg344=) c.534C>A (p.Arg178=) c.804C>A (p.Arg268=) c.1095C>A (p.Arg365=) c.648C>A (p.Arg216=) | |
| 5 | g.161294223C>A | CA362173230 | GABRB2 | c.1397G>T (p.Arg466Leu) c.*742G>T (n.*742G>T) c.1283G>T (p.Arg428Leu) c.1031G>T (p.Arg344Leu) c.533G>T (p.Arg178Leu) c.803G>T (p.Arg268Leu) c.1094G>T (p.Arg365Leu) c.647G>T (p.Arg216Leu) | |
| 5 | g.161294223C= | CA1595966740 | GABRB2 | c.1397G= (p.Arg466=) c.*742G= (n.*742G=) c.1283G= (p.Arg428=) c.1031G= (p.Arg344=) c.533G= (p.Arg178=) c.803G= (p.Arg268=) c.1094G= (p.Arg365=) c.647G= (p.Arg216=) | |
| 5 | g.161294223C>G | CA362173231 | GABRB2 | c.1397G>C (p.Arg466Pro) c.*742G>C (n.*742G>C) c.1283G>C (p.Arg428Pro) c.1031G>C (p.Arg344Pro) c.533G>C (p.Arg178Pro) c.803G>C (p.Arg268Pro) c.1094G>C (p.Arg365Pro) c.647G>C (p.Arg216Pro) | |
| 5 | g.161294223C>T | CA3543324 | GABRB2 | c.1397G>A (p.Arg466His) c.*742G>A (n.*742G>A) c.1283G>A (p.Arg428His) c.1031G>A (p.Arg344His) c.533G>A (p.Arg178His) c.803G>A (p.Arg268His) c.1094G>A (p.Arg365His) c.647G>A (p.Arg216His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161294224G>A | CA362173232 | GABRB2 | c.1396C>T (p.Arg466Cys) c.*741C>T (n.*741C>T) c.1282C>T (p.Arg428Cys) c.1030C>T (p.Arg344Cys) c.532C>T (p.Arg178Cys) c.802C>T (p.Arg268Cys) c.1093C>T (p.Arg365Cys) c.646C>T (p.Arg216Cys) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161294224G>C | CA362173233 | GABRB2 | c.1396C>G (p.Arg466Gly) c.*741C>G (n.*741C>G) c.1282C>G (p.Arg428Gly) c.1030C>G (p.Arg344Gly) c.532C>G (p.Arg178Gly) c.802C>G (p.Arg268Gly) c.1093C>G (p.Arg365Gly) c.646C>G (p.Arg216Gly) | |
| 5 | g.161294224G>T | CA362173234 | GABRB2 | c.1396C>A (p.Arg466Ser) c.*741C>A (n.*741C>A) c.1282C>A (p.Arg428Ser) c.1030C>A (p.Arg344Ser) c.532C>A (p.Arg178Ser) c.802C>A (p.Arg268Ser) c.1093C>A (p.Arg365Ser) c.646C>A (p.Arg216Ser) | |
| 5 | g.161294225A= | CA1595966746 | GABRB2 | c.1395T= (p.Ser465=) c.*740T= (n.*740T=) c.1281T= (p.Ser427=) c.1029T= (p.Ser343=) c.531T= (p.Ser177=) c.801T= (p.Ser267=) c.1092T= (p.Ser364=) c.645T= (p.Ser215=) | |
| 5 | g.161294225A>C | CA362173236 | GABRB2 | c.1395T>G (p.Ser465Arg) c.*740T>G (n.*740T>G) c.1281T>G (p.Ser427Arg) c.1029T>G (p.Ser343Arg) c.531T>G (p.Ser177Arg) c.801T>G (p.Ser267Arg) c.1092T>G (p.Ser364Arg) c.645T>G (p.Ser215Arg) | |
| 5 | g.161294225A>G | CA3543325 | GABRB2 | c.1395T>C (p.Ser465=) c.*740T>C (n.*740T>C) c.1281T>C (p.Ser427=) c.1029T>C (p.Ser343=) c.531T>C (p.Ser177=) c.801T>C (p.Ser267=) c.1092T>C (p.Ser364=) c.645T>C (p.Ser215=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161294225A>T | CA362173235 | GABRB2 | c.1395T>A (p.Ser465Arg) c.*740T>A (n.*740T>A) c.1281T>A (p.Ser427Arg) c.1029T>A (p.Ser343Arg) c.531T>A (p.Ser177Arg) c.801T>A (p.Ser267Arg) c.1092T>A (p.Ser364Arg) c.645T>A (p.Ser215Arg) | |
| 5 | g.161294226C>A | CA362173237 | GABRB2 | c.1394G>T (p.Ser465Ile) c.*739G>T (n.*739G>T) c.1280G>T (p.Ser427Ile) c.1028G>T (p.Ser343Ile) c.530G>T (p.Ser177Ile) c.800G>T (p.Ser267Ile) c.1091G>T (p.Ser364Ile) c.644G>T (p.Ser215Ile) | |
| 5 | g.161294226C>G | CA362173238 | GABRB2 | c.1394G>C (p.Ser465Thr) c.*739G>C (n.*739G>C) c.1280G>C (p.Ser427Thr) c.1028G>C (p.Ser343Thr) c.530G>C (p.Ser177Thr) c.800G>C (p.Ser267Thr) c.1091G>C (p.Ser364Thr) c.644G>C (p.Ser215Thr) | |
| 5 | g.161294226C>T | CA362173239 | GABRB2 | c.1394G>A (p.Ser465Asn) c.*739G>A (n.*739G>A) c.1280G>A (p.Ser427Asn) c.1028G>A (p.Ser343Asn) c.530G>A (p.Ser177Asn) c.800G>A (p.Ser267Asn) c.1091G>A (p.Ser364Asn) c.644G>A (p.Ser215Asn) | |
| 5 | g.161294227T>A | CA362173240 | GABRB2 | c.1393A>T (p.Ser465Cys) c.*738A>T (n.*738A>T) c.1279A>T (p.Ser427Cys) c.1027A>T (p.Ser343Cys) c.529A>T (p.Ser177Cys) c.799A>T (p.Ser267Cys) c.1090A>T (p.Ser364Cys) c.643A>T (p.Ser215Cys) |