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.161330956G>A | CA362175141 | GABRB2 | c.1004C>T (p.Pro335Leu) n.1086C>T c.*463C>T (n.*463C>T) c.752C>T (p.Pro251Leu) c.254C>T (p.Pro85Leu) c.524C>T (p.Pro175Leu) c.815C>T (p.Pro272Leu) | |
| 5 | g.161330956G>C | CA362175142 | GABRB2 | c.1004C>G (p.Pro335Arg) n.1086C>G c.*463C>G (n.*463C>G) c.752C>G (p.Pro251Arg) c.254C>G (p.Pro85Arg) c.524C>G (p.Pro175Arg) c.815C>G (p.Pro272Arg) | |
| 5 | g.161330956G>T | CA362175143 | GABRB2 | c.1004C>A (p.Pro335His) n.1086C>A c.*463C>A (n.*463C>A) c.752C>A (p.Pro251His) c.254C>A (p.Pro85His) c.524C>A (p.Pro175His) c.815C>A (p.Pro272His) | |
| 5 | g.161330957G>A | CA362175144 | GABRB2 | c.1003C>T (p.Pro335Ser) n.1085C>T c.*462C>T (n.*462C>T) c.751C>T (p.Pro251Ser) c.253C>T (p.Pro85Ser) c.523C>T (p.Pro175Ser) c.814C>T (p.Pro272Ser) | |
| 5 | g.161330957G>C | CA362175145 | GABRB2 | c.1003C>G (p.Pro335Ala) n.1085C>G c.*462C>G (n.*462C>G) c.751C>G (p.Pro251Ala) c.253C>G (p.Pro85Ala) c.523C>G (p.Pro175Ala) c.814C>G (p.Pro272Ala) | |
| 5 | g.161330957G>T | CA362175146 | GABRB2 | c.1003C>A (p.Pro335Thr) n.1085C>A c.*462C>A (n.*462C>A) c.751C>A (p.Pro251Thr) c.253C>A (p.Pro85Thr) c.523C>A (p.Pro175Thr) c.814C>A (p.Pro272Thr) | dbSNP |
| 5 | g.161330958C>A | CA447691307 | GABRB2 | c.1002G>T (p.Gly334=) n.1084G>T c.*461G>T (n.*461G>T) c.750G>T (p.Gly250=) c.252G>T (p.Gly84=) c.522G>T (p.Gly174=) c.813G>T (p.Gly271=) | COSMIC COSMIC |
| 5 | g.161330958C= | CA1595983841 | GABRB2 | c.1002G= (p.Gly334=) n.1084G= c.*461G= (n.*461G=) c.750G= (p.Gly250=) c.252G= (p.Gly84=) c.522G= (p.Gly174=) c.813G= (p.Gly271=) | |
| 5 | g.161330958C>G | CA447691308 | GABRB2 | c.1002G>C (p.Gly334=) n.1084G>C c.*461G>C (n.*461G>C) c.750G>C (p.Gly250=) c.252G>C (p.Gly84=) c.522G>C (p.Gly174=) c.813G>C (p.Gly271=) | |
| 5 | g.161330958C>T | CA447691309 | GABRB2 | c.1002G>A (p.Gly334=) n.1084G>A c.*461G>A (n.*461G>A) c.750G>A (p.Gly250=) c.252G>A (p.Gly84=) c.522G>A (p.Gly174=) c.813G>A (p.Gly271=) | dbSNP |
| 5 | g.161330962dup | CA2769169077 | GABRB2 | c.1002dup (p.Pro335AlafsTer9) n.1084dup c.*461dup (n.*461dup) c.750dup (p.Pro251AlafsTer9) c.252dup (p.Pro85AlafsTer9) c.522dup (p.Pro175AlafsTer9) c.813dup (p.Pro272AlafsTer9) | |
| 5 | g.161330959C>A | CA362175147 | GABRB2 | c.1001G>T (p.Gly334Val) n.1083G>T c.*460G>T (n.*460G>T) c.749G>T (p.Gly250Val) c.251G>T (p.Gly84Val) c.521G>T (p.Gly174Val) c.812G>T (p.Gly271Val) | |
| 5 | g.161330959C= | CA1595983842 | GABRB2 | c.1001G= (p.Gly334=) n.1083G= c.*460G= (n.*460G=) c.749G= (p.Gly250=) c.251G= (p.Gly84=) c.521G= (p.Gly174=) c.812G= (p.Gly271=) | |
| 5 | g.161330959C>G | CA362175148 | GABRB2 | c.1001G>C (p.Gly334Ala) n.1083G>C c.*460G>C (n.*460G>C) c.749G>C (p.Gly250Ala) c.251G>C (p.Gly84Ala) c.521G>C (p.Gly174Ala) c.812G>C (p.Gly271Ala) | |
| 5 | g.161330959C>T | CA3543450 | GABRB2 | c.1001G>A (p.Gly334Glu) n.1083G>A c.*460G>A (n.*460G>A) c.749G>A (p.Gly250Glu) c.251G>A (p.Gly84Glu) c.521G>A (p.Gly174Glu) c.812G>A (p.Gly271Glu) | dbSNP ExAC gnomAD v2 |
| 5 | g.161330960C>A | CA362175149 | GABRB2 | c.1000G>T (p.Gly334Trp) n.1082G>T c.*459G>T (n.*459G>T) c.748G>T (p.Gly250Trp) c.250G>T (p.Gly84Trp) c.520G>T (p.Gly174Trp) c.811G>T (p.Gly271Trp) | |
| 5 | g.161330960C>G | CA362175150 | GABRB2 | c.1000G>C (p.Gly334Arg) n.1082G>C c.*459G>C (n.*459G>C) c.748G>C (p.Gly250Arg) c.250G>C (p.Gly84Arg) c.520G>C (p.Gly174Arg) c.811G>C (p.Gly271Arg) | |
| 5 | g.161330960C>T | CA362175151 | GABRB2 | c.1000G>A (p.Gly334Arg) n.1082G>A c.*459G>A (n.*459G>A) c.748G>A (p.Gly250Arg) c.250G>A (p.Gly84Arg) c.520G>A (p.Gly174Arg) c.811G>A (p.Gly271Arg) | COSMIC COSMIC |
| 5 | g.161330961C>A | CA362175152 | GABRB2 | c.999G>T (p.Arg333Ser) n.1081G>T c.*458G>T (n.*458G>T) c.747G>T (p.Arg249Ser) c.249G>T (p.Arg83Ser) c.519G>T (p.Arg173Ser) c.810G>T (p.Arg270Ser) | |
| 5 | g.161330961C= | CA1595983843 | GABRB2 | c.999G= (p.Arg333=) n.1081G= c.*458G= (n.*458G=) c.747G= (p.Arg249=) c.249G= (p.Arg83=) c.519G= (p.Arg173=) c.810G= (p.Arg270=) | |
| 5 | g.161330961C>G | CA362175153 | GABRB2 | c.999G>C (p.Arg333Ser) n.1081G>C c.*458G>C (n.*458G>C) c.747G>C (p.Arg249Ser) c.249G>C (p.Arg83Ser) c.519G>C (p.Arg173Ser) c.810G>C (p.Arg270Ser) | |
| 5 | g.161330961C>T | CA3543451 | GABRB2 | c.999G>A (p.Arg333=) n.1081G>A c.*458G>A (n.*458G>A) c.747G>A (p.Arg249=) c.249G>A (p.Arg83=) c.519G>A (p.Arg173=) c.810G>A (p.Arg270=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.161330962C>A | CA362175154 | GABRB2 | c.998G>T (p.Arg333Met) n.1080G>T c.*457G>T (n.*457G>T) c.746G>T (p.Arg249Met) c.248G>T (p.Arg83Met) c.518G>T (p.Arg173Met) c.809G>T (p.Arg270Met) | |
| 5 | g.161330962C= | CA1595983844 | GABRB2 | c.998G= (p.Arg333=) n.1080G= c.*457G= (n.*457G=) c.746G= (p.Arg249=) c.248G= (p.Arg83=) c.518G= (p.Arg173=) c.809G= (p.Arg270=) | |
| 5 | g.161330962C>G | CA3543452 | GABRB2 | c.998G>C (p.Arg333Thr) n.1080G>C c.*457G>C (n.*457G>C) c.746G>C (p.Arg249Thr) c.248G>C (p.Arg83Thr) c.518G>C (p.Arg173Thr) c.809G>C (p.Arg270Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330962C>T | CA362175155 | GABRB2 | c.998G>A (p.Arg333Lys) n.1080G>A c.*457G>A (n.*457G>A) c.746G>A (p.Arg249Lys) c.248G>A (p.Arg83Lys) c.518G>A (p.Arg173Lys) c.809G>A (p.Arg270Lys) | |
| 5 | g.161330963T>A | CA362175156 | GABRB2 | c.997A>T (p.Arg333Trp) n.1079A>T c.*456A>T (n.*456A>T) c.745A>T (p.Arg249Trp) c.247A>T (p.Arg83Trp) c.517A>T (p.Arg173Trp) c.808A>T (p.Arg270Trp) | |
| 5 | g.161330963T>C | CA362175157 | GABRB2 | c.997A>G (p.Arg333Gly) n.1079A>G c.*456A>G (n.*456A>G) c.745A>G (p.Arg249Gly) c.247A>G (p.Arg83Gly) c.517A>G (p.Arg173Gly) c.808A>G (p.Arg270Gly) | COSMIC COSMIC |
| 5 | g.161330963T>G | CA447691320 | GABRB2 | c.997A>C (p.Arg333=) n.1079A>C c.*456A>C (n.*456A>C) c.745A>C (p.Arg249=) c.247A>C (p.Arg83=) c.517A>C (p.Arg173=) c.808A>C (p.Arg270=) | |
| 5 | g.161330964C>A | CA447691321 | GABRB2 | c.996G>T (p.Gly332=) n.1078G>T c.*455G>T (n.*455G>T) c.744G>T (p.Gly248=) c.246G>T (p.Gly82=) c.516G>T (p.Gly172=) c.807G>T (p.Gly269=) | |
| 5 | g.161330964C= | CA1595983845 | GABRB2 | c.996G= (p.Gly332=) n.1078G= c.*455G= (n.*455G=) c.744G= (p.Gly248=) c.246G= (p.Gly82=) c.516G= (p.Gly172=) c.807G= (p.Gly269=) | |
| 5 | g.161330964C>G | CA447691323 | GABRB2 | c.996G>C (p.Gly332=) n.1078G>C c.*455G>C (n.*455G>C) c.744G>C (p.Gly248=) c.246G>C (p.Gly82=) c.516G>C (p.Gly172=) c.807G>C (p.Gly269=) | |
| 5 | g.161330964C>T | CA3543453 | GABRB2 | c.996G>A (p.Gly332=) n.1078G>A c.*455G>A (n.*455G>A) c.744G>A (p.Gly248=) c.246G>A (p.Gly82=) c.516G>A (p.Gly172=) c.807G>A (p.Gly269=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.161330965C>A | CA362175159 | GABRB2 | c.995G>T (p.Gly332Val) n.1077G>T c.*454G>T (n.*454G>T) c.743G>T (p.Gly248Val) c.245G>T (p.Gly82Val) c.515G>T (p.Gly172Val) c.806G>T (p.Gly269Val) | |
| 5 | g.161330965C>G | CA362175160 | GABRB2 | c.995G>C (p.Gly332Ala) n.1077G>C c.*454G>C (n.*454G>C) c.743G>C (p.Gly248Ala) c.245G>C (p.Gly82Ala) c.515G>C (p.Gly172Ala) c.806G>C (p.Gly269Ala) | |
| 5 | g.161330965C>T | CA362175158 | GABRB2 | c.995G>A (p.Gly332Glu) n.1077G>A c.*454G>A (n.*454G>A) c.743G>A (p.Gly248Glu) c.245G>A (p.Gly82Glu) c.515G>A (p.Gly172Glu) c.806G>A (p.Gly269Glu) | COSMIC COSMIC |
| 5 | g.161330966C>A | CA362175161 | GABRB2 | c.994G>T (p.Gly332Trp) n.1076G>T c.*453G>T (n.*453G>T) c.742G>T (p.Gly248Trp) c.244G>T (p.Gly82Trp) c.514G>T (p.Gly172Trp) c.805G>T (p.Gly269Trp) | |
| 5 | g.161330966C>G | CA362175162 | GABRB2 | c.994G>C (p.Gly332Arg) n.1076G>C c.*453G>C (n.*453G>C) c.742G>C (p.Gly248Arg) c.244G>C (p.Gly82Arg) c.514G>C (p.Gly172Arg) c.805G>C (p.Gly269Arg) | |
| 5 | g.161330966C>T | CA362175163 | GABRB2 | c.994G>A (p.Gly332Arg) n.1076G>A c.*453G>A (n.*453G>A) c.742G>A (p.Gly248Arg) c.244G>A (p.Gly82Arg) c.514G>A (p.Gly172Arg) c.805G>A (p.Gly269Arg) | |
| 5 | g.161330967A= | CA1595983846 | GABRB2 | c.993T= (p.Phe331=) n.1075T= c.*452T= (n.*452T=) c.741T= (p.Phe247=) c.243T= (p.Phe81=) c.513T= (p.Phe171=) c.804T= (p.Phe268=) | |
| 5 | g.161330967A>C | CA362175164 | GABRB2 | c.993T>G (p.Phe331Leu) n.1075T>G c.*452T>G (n.*452T>G) c.741T>G (p.Phe247Leu) c.243T>G (p.Phe81Leu) c.513T>G (p.Phe171Leu) c.804T>G (p.Phe268Leu) | |
| 5 | g.161330967A>G | CA447691328 | GABRB2 | c.993T>C (p.Phe331=) n.1075T>C c.*452T>C (n.*452T>C) c.741T>C (p.Phe247=) c.243T>C (p.Phe81=) c.513T>C (p.Phe171=) c.804T>C (p.Phe268=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.161330967A>T | CA362175165 | GABRB2 | c.993T>A (p.Phe331Leu) n.1075T>A c.*452T>A (n.*452T>A) c.741T>A (p.Phe247Leu) c.243T>A (p.Phe81Leu) c.513T>A (p.Phe171Leu) c.804T>A (p.Phe268Leu) | dbSNP |
| 5 | g.161330967_161330973delinsAAAGAAG | CA1595983847 | GABRB2 | c.987_993delinsCTTCTTT (p.Ile329=) n.1069_1075delinsCTTCTTT c.*446_*452delinsCTTCTTT (n.*446_*452delinsCTTCTTT) c.735_741delinsCTTCTTT (p.Ile245=) c.237_243delinsCTTCTTT (p.Ile79=) c.507_513delinsCTTCTTT (p.Ile169=) c.798_804delinsCTTCTTT (p.Ile266=) | |
| 5 | g.161330968A>C | CA362175168 | GABRB2 | c.992T>G (p.Phe331Cys) n.1074T>G c.*451T>G (n.*451T>G) c.740T>G (p.Phe247Cys) c.242T>G (p.Phe81Cys) c.512T>G (p.Phe171Cys) c.803T>G (p.Phe268Cys) | |
| 5 | g.161330968A>G | CA362175166 | GABRB2 | c.992T>C (p.Phe331Ser) n.1074T>C c.*451T>C (n.*451T>C) c.740T>C (p.Phe247Ser) c.242T>C (p.Phe81Ser) c.512T>C (p.Phe171Ser) c.803T>C (p.Phe268Ser) | ClinVar dbSNP gnomAD v4 |
| 5 | g.161330968A>T | CA362175167 | GABRB2 | c.992T>A (p.Phe331Tyr) n.1074T>A c.*451T>A (n.*451T>A) c.740T>A (p.Phe247Tyr) c.242T>A (p.Phe81Tyr) c.512T>A (p.Phe171Tyr) c.803T>A (p.Phe268Tyr) | |
| 5 | g.161330972_161330974del | CA2695205635 | GABRB2 | c.990_992del (p.Phe331del) n.1072_1074del c.*449_*451del (n.*449_*451del) c.738_740del (p.Phe247del) c.240_242del (p.Phe81del) c.510_512del (p.Phe171del) c.801_803del (p.Phe268del) | |
| 5 | g.161330969_161330974del | CA1595983848 | GABRB2 | c.987_992del (p.Phe330_Phe331del) n.1069_1074del c.*446_*451del (n.*446_*451del) c.735_740del (p.Phe246_Phe247del) c.237_242del (p.Phe80_Phe81del) c.507_512del (p.Phe170_Phe171del) c.798_803del (p.Phe267_Phe268del) | ClinVar dbSNP |
| 5 | g.161330969A>C | CA362175169 | GABRB2 | c.991T>G (p.Phe331Val) n.1073T>G c.*450T>G (n.*450T>G) c.739T>G (p.Phe247Val) c.241T>G (p.Phe81Val) c.511T>G (p.Phe171Val) c.802T>G (p.Phe268Val) | |
| 5 | g.161330969A>G | CA362175170 | GABRB2 | c.991T>C (p.Phe331Leu) n.1073T>C c.*450T>C (n.*450T>C) c.739T>C (p.Phe247Leu) c.241T>C (p.Phe81Leu) c.511T>C (p.Phe171Leu) c.802T>C (p.Phe268Leu) | |
| 5 | g.161330969A>T | CA362175171 | GABRB2 | c.991T>A (p.Phe331Ile) n.1073T>A c.*450T>A (n.*450T>A) c.739T>A (p.Phe247Ile) c.241T>A (p.Phe81Ile) c.511T>A (p.Phe171Ile) c.802T>A (p.Phe268Ile) | |
| 5 | g.161330970G>A | CA447691337 | GABRB2 | c.990C>T (p.Phe330=) n.1072C>T c.*449C>T (n.*449C>T) c.738C>T (p.Phe246=) c.240C>T (p.Phe80=) c.510C>T (p.Phe170=) c.801C>T (p.Phe267=) | |
| 5 | g.161330970G>C | CA362175172 | GABRB2 | c.990C>G (p.Phe330Leu) n.1072C>G c.*449C>G (n.*449C>G) c.738C>G (p.Phe246Leu) c.240C>G (p.Phe80Leu) c.510C>G (p.Phe170Leu) c.801C>G (p.Phe267Leu) | |
| 5 | g.161330970G>T | CA362175173 | GABRB2 | c.990C>A (p.Phe330Leu) n.1072C>A c.*449C>A (n.*449C>A) c.738C>A (p.Phe246Leu) c.240C>A (p.Phe80Leu) c.510C>A (p.Phe170Leu) c.801C>A (p.Phe267Leu) | |
| 5 | g.161330971A>C | CA362175176 | GABRB2 | c.989T>G (p.Phe330Cys) n.1071T>G c.*448T>G (n.*448T>G) c.737T>G (p.Phe246Cys) c.239T>G (p.Phe80Cys) c.509T>G (p.Phe170Cys) c.800T>G (p.Phe267Cys) | |
| 5 | g.161330971A>G | CA362175175 | GABRB2 | c.989T>C (p.Phe330Ser) n.1071T>C c.*448T>C (n.*448T>C) c.737T>C (p.Phe246Ser) c.239T>C (p.Phe80Ser) c.509T>C (p.Phe170Ser) c.800T>C (p.Phe267Ser) | |
| 5 | g.161330971A>T | CA362175174 | GABRB2 | c.989T>A (p.Phe330Tyr) n.1071T>A c.*448T>A (n.*448T>A) c.737T>A (p.Phe246Tyr) c.239T>A (p.Phe80Tyr) c.509T>A (p.Phe170Tyr) c.800T>A (p.Phe267Tyr) | gnomAD v4 |
| 5 | g.161330971_161330972insCACCCAACAC | CA2769169084 | GABRB2 | c.988_989insGTGTTGGGTG (p.Phe330CysfsTer17) n.1070_1071insGTGTTGGGTG c.*447_*448insGTGTTGGGTG (n.*447_*448insGTGTTGGGTG) c.736_737insGTGTTGGGTG (p.Phe246CysfsTer17) c.238_239insGTGTTGGGTG (p.Phe80CysfsTer17) c.508_509insGTGTTGGGTG (p.Phe170CysfsTer17) c.799_800insGTGTTGGGTG (p.Phe267CysfsTer17) | |
| 5 | g.161330972A= | CA1595983849 | GABRB2 | c.988T= (p.Phe330=) n.1070T= c.*447T= (n.*447T=) c.736T= (p.Phe246=) c.238T= (p.Phe80=) c.508T= (p.Phe170=) c.799T= (p.Phe267=) | |
| 5 | g.161330972A>C | CA362175177 | GABRB2 | c.988T>G (p.Phe330Val) n.1070T>G c.*447T>G (n.*447T>G) c.736T>G (p.Phe246Val) c.238T>G (p.Phe80Val) c.508T>G (p.Phe170Val) c.799T>G (p.Phe267Val) | |
| 5 | g.161330972A>G | CA362175179 | GABRB2 | c.988T>C (p.Phe330Leu) n.1070T>C c.*447T>C (n.*447T>C) c.736T>C (p.Phe246Leu) c.238T>C (p.Phe80Leu) c.508T>C (p.Phe170Leu) c.799T>C (p.Phe267Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161330972A>T | CA362175178 | GABRB2 | c.988T>A (p.Phe330Ile) n.1070T>A c.*447T>A (n.*447T>A) c.736T>A (p.Phe246Ile) c.238T>A (p.Phe80Ile) c.508T>A (p.Phe170Ile) c.799T>A (p.Phe267Ile) | |
| 5 | g.161330972_161330973insAACCACCAAACACACCCAACACA | CA2769169083 | GABRB2 | c.988_989insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe330CysfsTer?) n.1070_1071insGTGTTGGGTGTGTTTGGTGGTTT c.*447_*448insGTGTTGGGTGTGTTTGGTGGTTT (n.*447_*448insGTGTTGGGTGTGTTTGGTGGTTT) c.736_737insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe246CysfsTer?) c.238_239insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe80CysfsTer?) c.508_509insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe170CysfsTer?) c.799_800insGTGTTGGGTGTGTTTGGTGGTTT (p.Phe267CysfsTer?) | |
| 5 | g.161330973G>A | CA447691342 | GABRB2 | c.987C>T (p.Ile329=) n.1069C>T c.*446C>T (n.*446C>T) c.735C>T (p.Ile245=) c.237C>T (p.Ile79=) c.507C>T (p.Ile169=) c.798C>T (p.Ile266=) | |
| 5 | g.161330973G>C | CA362175180 | GABRB2 | c.987C>G (p.Ile329Met) n.1069C>G c.*446C>G (n.*446C>G) c.735C>G (p.Ile245Met) c.237C>G (p.Ile79Met) c.507C>G (p.Ile169Met) c.798C>G (p.Ile266Met) | |
| 5 | g.161330973G>T | CA447691340 | GABRB2 | c.987C>A (p.Ile329=) n.1069C>A c.*446C>A (n.*446C>A) c.735C>A (p.Ile245=) c.237C>A (p.Ile79=) c.507C>A (p.Ile169=) c.798C>A (p.Ile266=) | |
| 5 | g.161330974A= | CA1595983850 | GABRB2 | c.986T= (p.Ile329=) n.1068T= c.*445T= (n.*445T=) c.734T= (p.Ile245=) c.236T= (p.Ile79=) c.506T= (p.Ile169=) c.797T= (p.Ile266=) | |
| 5 | g.161330974A>C | CA362175182 | GABRB2 | c.986T>G (p.Ile329Ser) n.1068T>G c.*445T>G (n.*445T>G) c.734T>G (p.Ile245Ser) c.236T>G (p.Ile79Ser) c.506T>G (p.Ile169Ser) c.797T>G (p.Ile266Ser) | |
| 5 | g.161330974A>G | CA362175181 | GABRB2 | c.986T>C (p.Ile329Thr) n.1068T>C c.*445T>C (n.*445T>C) c.734T>C (p.Ile245Thr) c.236T>C (p.Ile79Thr) c.506T>C (p.Ile169Thr) c.797T>C (p.Ile266Thr) | |
| 5 | g.161330974A>T | CA362175183 | GABRB2 | c.986T>A (p.Ile329Asn) n.1068T>A c.*445T>A (n.*445T>A) c.734T>A (p.Ile245Asn) c.236T>A (p.Ile79Asn) c.506T>A (p.Ile169Asn) c.797T>A (p.Ile266Asn) | ClinVar dbSNP |
| 5 | g.161330975T>A | CA362175184 | GABRB2 | c.985A>T (p.Ile329Phe) n.1067A>T c.*444A>T (n.*444A>T) c.733A>T (p.Ile245Phe) c.235A>T (p.Ile79Phe) c.505A>T (p.Ile169Phe) c.796A>T (p.Ile266Phe) | |
| 5 | g.161330975T>C | CA362175186 | GABRB2 | c.985A>G (p.Ile329Val) n.1067A>G c.*444A>G (n.*444A>G) c.733A>G (p.Ile245Val) c.235A>G (p.Ile79Val) c.505A>G (p.Ile169Val) c.796A>G (p.Ile266Val) | gnomAD v4 |
| 5 | g.161330975T>G | CA362175185 | GABRB2 | c.985A>C (p.Ile329Leu) n.1067A>C c.*444A>C (n.*444A>C) c.733A>C (p.Ile245Leu) c.235A>C (p.Ile79Leu) c.505A>C (p.Ile169Leu) c.796A>C (p.Ile266Leu) | |
| 5 | g.161330976G>A | CA3543454 | GABRB2 | c.984C>T (p.Tyr328=) n.1066C>T c.*443C>T (n.*443C>T) c.732C>T (p.Tyr244=) c.234C>T (p.Tyr78=) c.504C>T (p.Tyr168=) c.795C>T (p.Tyr265=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161330976G>C | CA362175187 | GABRB2 | c.984C>G (p.Tyr328Ter) n.1066C>G c.*443C>G (n.*443C>G) c.732C>G (p.Tyr244Ter) c.234C>G (p.Tyr78Ter) c.504C>G (p.Tyr168Ter) c.795C>G (p.Tyr265Ter) | |
| 5 | g.161330976G= | CA1595983851 | GABRB2 | c.984C= (p.Tyr328=) n.1066C= c.*443C= (n.*443C=) c.732C= (p.Tyr244=) c.234C= (p.Tyr78=) c.504C= (p.Tyr168=) c.795C= (p.Tyr265=) | |
| 5 | g.161330976G>T | CA362175188 | GABRB2 | c.984C>A (p.Tyr328Ter) n.1066C>A c.*443C>A (n.*443C>A) c.732C>A (p.Tyr244Ter) c.234C>A (p.Tyr78Ter) c.504C>A (p.Tyr168Ter) c.795C>A (p.Tyr265Ter) | |
| 5 | g.161330977T>A | CA362175189 | GABRB2 | c.983A>T (p.Tyr328Phe) n.1065A>T c.*442A>T (n.*442A>T) c.731A>T (p.Tyr244Phe) c.233A>T (p.Tyr78Phe) c.503A>T (p.Tyr168Phe) c.794A>T (p.Tyr265Phe) | COSMIC COSMIC |
| 5 | g.161330977T>C | CA362175190 | GABRB2 | c.983A>G (p.Tyr328Cys) n.1065A>G c.*442A>G (n.*442A>G) c.731A>G (p.Tyr244Cys) c.233A>G (p.Tyr78Cys) c.503A>G (p.Tyr168Cys) c.794A>G (p.Tyr265Cys) | |
| 5 | g.161330977T>G | CA362175191 | GABRB2 | c.983A>C (p.Tyr328Ser) n.1065A>C c.*442A>C (n.*442A>C) c.731A>C (p.Tyr244Ser) c.233A>C (p.Tyr78Ser) c.503A>C (p.Tyr168Ser) c.794A>C (p.Tyr265Ser) | |
| 5 | g.161330978A>C | CA362175192 | GABRB2 | c.982T>G (p.Tyr328Asp) n.1064T>G c.*441T>G (n.*441T>G) c.730T>G (p.Tyr244Asp) c.232T>G (p.Tyr78Asp) c.502T>G (p.Tyr168Asp) c.793T>G (p.Tyr265Asp) | COSMIC COSMIC |
| 5 | g.161330978A>G | CA362175193 | GABRB2 | c.982T>C (p.Tyr328His) n.1064T>C c.*441T>C (n.*441T>C) c.730T>C (p.Tyr244His) c.232T>C (p.Tyr78His) c.502T>C (p.Tyr168His) c.793T>C (p.Tyr265His) | |
| 5 | g.161330978A>T | CA362175194 | GABRB2 | c.982T>A (p.Tyr328Asn) n.1064T>A c.*441T>A (n.*441T>A) c.730T>A (p.Tyr244Asn) c.232T>A (p.Tyr78Asn) c.502T>A (p.Tyr168Asn) c.793T>A (p.Tyr265Asn) | |
| 5 | g.161330979G>A | CA447691356 | GABRB2 | c.981C>T (p.Asn327=) n.1063C>T c.*440C>T (n.*440C>T) c.729C>T (p.Asn243=) c.231C>T (p.Asn77=) c.501C>T (p.Asn167=) c.792C>T (p.Asn264=) | gnomAD v4 |
| 5 | g.161330979G>C | CA362175195 | GABRB2 | c.981C>G (p.Asn327Lys) n.1063C>G c.*440C>G (n.*440C>G) c.729C>G (p.Asn243Lys) c.231C>G (p.Asn77Lys) c.501C>G (p.Asn167Lys) c.792C>G (p.Asn264Lys) | ClinVar dbSNP |
| 5 | g.161330979G>T | CA362175196 | GABRB2 | c.981C>A (p.Asn327Lys) n.1063C>A c.*440C>A (n.*440C>A) c.729C>A (p.Asn243Lys) c.231C>A (p.Asn77Lys) c.501C>A (p.Asn167Lys) c.792C>A (p.Asn264Lys) | ClinVar |
| 5 | g.161330980T>A | CA362175199 | GABRB2 | c.980A>T (p.Asn327Ile) n.1062A>T c.*439A>T (n.*439A>T) c.728A>T (p.Asn243Ile) c.230A>T (p.Asn77Ile) c.500A>T (p.Asn167Ile) c.791A>T (p.Asn264Ile) | |
| 5 | g.161330980T>C | CA362175198 | GABRB2 | c.980A>G (p.Asn327Ser) n.1062A>G c.*439A>G (n.*439A>G) c.728A>G (p.Asn243Ser) c.230A>G (p.Asn77Ser) c.500A>G (p.Asn167Ser) c.791A>G (p.Asn264Ser) | |
| 5 | g.161330980T>G | CA362175197 | GABRB2 | c.980A>C (p.Asn327Thr) n.1062A>C c.*439A>C (n.*439A>C) c.728A>C (p.Asn243Thr) c.230A>C (p.Asn77Thr) c.500A>C (p.Asn167Thr) c.791A>C (p.Asn264Thr) | |
| 5 | g.161330981T>A | CA362175200 | GABRB2 | c.979A>T (p.Asn327Tyr) n.1061A>T c.*438A>T (n.*438A>T) c.727A>T (p.Asn243Tyr) c.229A>T (p.Asn77Tyr) c.499A>T (p.Asn167Tyr) c.790A>T (p.Asn264Tyr) | |
| 5 | g.161330981T>C | CA362175201 | GABRB2 | c.979A>G (p.Asn327Asp) n.1061A>G c.*438A>G (n.*438A>G) c.727A>G (p.Asn243Asp) c.229A>G (p.Asn77Asp) c.499A>G (p.Asn167Asp) c.790A>G (p.Asn264Asp) | |
| 5 | g.161330981T>G | CA362175202 | GABRB2 | c.979A>C (p.Asn327His) n.1061A>C c.*438A>C (n.*438A>C) c.727A>C (p.Asn243His) c.229A>C (p.Asn77His) c.499A>C (p.Asn167His) c.790A>C (p.Asn264His) | |
| 5 | g.161330982G>A | CA447691359 | GABRB2 | c.978C>T (p.Val326=) n.1060C>T c.*437C>T (n.*437C>T) c.726C>T (p.Val242=) c.228C>T (p.Val76=) c.498C>T (p.Val166=) c.789C>T (p.Val263=) | dbSNP |
| 5 | g.161330982G>C | CA447691361 | GABRB2 | c.978C>G (p.Val326=) n.1060C>G c.*437C>G (n.*437C>G) c.726C>G (p.Val242=) c.228C>G (p.Val76=) c.498C>G (p.Val166=) c.789C>G (p.Val263=) | |
| 5 | g.161330982G>T | CA447691363 | GABRB2 | c.978C>A (p.Val326=) n.1060C>A c.*437C>A (n.*437C>A) c.726C>A (p.Val242=) c.228C>A (p.Val76=) c.498C>A (p.Val166=) c.789C>A (p.Val263=) | gnomAD v4 |
| 5 | g.161330983A= | CA1595983852 | GABRB2 | c.977T= (p.Val326=) n.1059T= c.*436T= (n.*436T=) c.725T= (p.Val242=) c.227T= (p.Val76=) c.497T= (p.Val166=) c.788T= (p.Val263=) | |
| 5 | g.161330983A>C | CA362175203 | GABRB2 | c.977T>G (p.Val326Gly) n.1059T>G c.*436T>G (n.*436T>G) c.725T>G (p.Val242Gly) c.227T>G (p.Val76Gly) c.497T>G (p.Val166Gly) c.788T>G (p.Val263Gly) | |
| 5 | g.161330983A>G | CA362175204 | GABRB2 | c.977T>C (p.Val326Ala) n.1059T>C c.*436T>C (n.*436T>C) c.725T>C (p.Val242Ala) c.227T>C (p.Val76Ala) c.497T>C (p.Val166Ala) c.788T>C (p.Val263Ala) | dbSNP |
| 5 | g.161330983A>T | CA362175205 | GABRB2 | c.977T>A (p.Val326Asp) n.1059T>A c.*436T>A (n.*436T>A) c.725T>A (p.Val242Asp) c.227T>A (p.Val76Asp) c.497T>A (p.Val166Asp) c.788T>A (p.Val263Asp) | |
| 5 | g.161330984C>A | CA362175206 | GABRB2 | c.976G>T (p.Val326Phe) n.1058G>T c.*435G>T (n.*435G>T) c.724G>T (p.Val242Phe) c.226G>T (p.Val76Phe) c.496G>T (p.Val166Phe) c.787G>T (p.Val263Phe) | |
| 5 | g.161330984C= | CA1595983853 | GABRB2 | c.976G= (p.Val326=) n.1058G= c.*435G= (n.*435G=) c.724G= (p.Val242=) c.226G= (p.Val76=) c.496G= (p.Val166=) c.787G= (p.Val263=) | |
| 5 | g.161330984C>G | CA362175207 | GABRB2 | c.976G>C (p.Val326Leu) n.1058G>C c.*435G>C (n.*435G>C) c.724G>C (p.Val242Leu) c.226G>C (p.Val76Leu) c.496G>C (p.Val166Leu) c.787G>C (p.Val263Leu) | |
| 5 | g.161330984C>T | CA362175208 | GABRB2 | c.976G>A (p.Val326Ile) n.1058G>A c.*435G>A (n.*435G>A) c.724G>A (p.Val242Ile) c.226G>A (p.Val76Ile) c.496G>A (p.Val166Ile) c.787G>A (p.Val263Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161330985T>A | CA447691367 | GABRB2 | c.975A>T (p.Leu325=) n.1057A>T c.*434A>T (n.*434A>T) c.723A>T (p.Leu241=) c.225A>T (p.Leu75=) c.495A>T (p.Leu165=) c.786A>T (p.Leu262=) | |
| 5 | g.161330985T>C | CA447691369 | GABRB2 | c.975A>G (p.Leu325=) n.1057A>G c.*434A>G (n.*434A>G) c.723A>G (p.Leu241=) c.225A>G (p.Leu75=) c.495A>G (p.Leu165=) c.786A>G (p.Leu262=) | |
| 5 | g.161330985T>G | CA447691370 | GABRB2 | c.975A>C (p.Leu325=) n.1057A>C c.*434A>C (n.*434A>C) c.723A>C (p.Leu241=) c.225A>C (p.Leu75=) c.495A>C (p.Leu165=) c.786A>C (p.Leu262=) | |
| 5 | g.161330986A>C | CA362175209 | GABRB2 | c.974T>G (p.Leu325Arg) n.1056T>G c.*433T>G (n.*433T>G) c.722T>G (p.Leu241Arg) c.224T>G (p.Leu75Arg) c.494T>G (p.Leu165Arg) c.785T>G (p.Leu262Arg) | |
| 5 | g.161330986A>G | CA362175210 | GABRB2 | c.974T>C (p.Leu325Pro) n.1056T>C c.*433T>C (n.*433T>C) c.722T>C (p.Leu241Pro) c.224T>C (p.Leu75Pro) c.494T>C (p.Leu165Pro) c.785T>C (p.Leu262Pro) | COSMIC COSMIC |
| 5 | g.161330986A>T | CA362175211 | GABRB2 | c.974T>A (p.Leu325Gln) n.1056T>A c.*433T>A (n.*433T>A) c.722T>A (p.Leu241Gln) c.224T>A (p.Leu75Gln) c.494T>A (p.Leu165Gln) c.785T>A (p.Leu262Gln) | |
| 5 | g.161330987G>A | CA447691374 | GABRB2 | c.973C>T (p.Leu325=) n.1055C>T c.*432C>T (n.*432C>T) c.721C>T (p.Leu241=) c.223C>T (p.Leu75=) c.493C>T (p.Leu165=) c.784C>T (p.Leu262=) | |
| 5 | g.161330987G>C | CA362175212 | GABRB2 | c.973C>G (p.Leu325Val) n.1055C>G c.*432C>G (n.*432C>G) c.721C>G (p.Leu241Val) c.223C>G (p.Leu75Val) c.493C>G (p.Leu165Val) c.784C>G (p.Leu262Val) | |
| 5 | g.161330987G>T | CA362175213 | GABRB2 | c.973C>A (p.Leu325Ile) n.1055C>A c.*432C>A (n.*432C>A) c.721C>A (p.Leu241Ile) c.223C>A (p.Leu75Ile) c.493C>A (p.Leu165Ile) c.784C>A (p.Leu262Ile) | |
| 5 | g.161330988G>A | CA447691375 | GABRB2 | c.972C>T (p.Ala324=) n.1054C>T c.*431C>T (n.*431C>T) c.720C>T (p.Ala240=) c.222C>T (p.Ala74=) c.492C>T (p.Ala164=) c.783C>T (p.Ala261=) | |
| 5 | g.161330988G>C | CA447691376 | GABRB2 | c.972C>G (p.Ala324=) n.1054C>G c.*431C>G (n.*431C>G) c.720C>G (p.Ala240=) c.222C>G (p.Ala74=) c.492C>G (p.Ala164=) c.783C>G (p.Ala261=) | |
| 5 | g.161330988G>T | CA447691378 | GABRB2 | c.972C>A (p.Ala324=) n.1054C>A c.*431C>A (n.*431C>A) c.720C>A (p.Ala240=) c.222C>A (p.Ala74=) c.492C>A (p.Ala164=) c.783C>A (p.Ala261=) | COSMIC COSMIC |
| 5 | g.161330989G>A | CA362175214 | GABRB2 | c.971C>T (p.Ala324Val) n.1053C>T c.*430C>T (n.*430C>T) c.719C>T (p.Ala240Val) c.221C>T (p.Ala74Val) c.491C>T (p.Ala164Val) c.782C>T (p.Ala261Val) | |
| 5 | g.161330989G>C | CA362175215 | GABRB2 | c.971C>G (p.Ala324Gly) n.1053C>G c.*430C>G (n.*430C>G) c.719C>G (p.Ala240Gly) c.221C>G (p.Ala74Gly) c.491C>G (p.Ala164Gly) c.782C>G (p.Ala261Gly) | |
| 5 | g.161330989G>T | CA362175216 | GABRB2 | c.971C>A (p.Ala324Asp) n.1053C>A c.*430C>A (n.*430C>A) c.719C>A (p.Ala240Asp) c.221C>A (p.Ala74Asp) c.491C>A (p.Ala164Asp) c.782C>A (p.Ala261Asp) | |
| 5 | g.161330990C>A | CA362175217 | GABRB2 | c.970G>T (p.Ala324Ser) n.1052G>T c.*429G>T (n.*429G>T) c.718G>T (p.Ala240Ser) c.220G>T (p.Ala74Ser) c.490G>T (p.Ala164Ser) c.781G>T (p.Ala261Ser) | |
| 5 | g.161330990C>G | CA362175218 | GABRB2 | c.970G>C (p.Ala324Pro) n.1052G>C c.*429G>C (n.*429G>C) c.718G>C (p.Ala240Pro) c.220G>C (p.Ala74Pro) c.490G>C (p.Ala164Pro) c.781G>C (p.Ala261Pro) | |
| 5 | g.161330990C>T | CA362175219 | GABRB2 | c.970G>A (p.Ala324Thr) n.1052G>A c.*429G>A (n.*429G>A) c.718G>A (p.Ala240Thr) c.220G>A (p.Ala74Thr) c.490G>A (p.Ala164Thr) c.781G>A (p.Ala261Thr) | |
| 5 | g.161330991A>C | CA362175220 | GABRB2 | c.969T>G (p.Tyr323Ter) n.1051T>G c.*428T>G (n.*428T>G) c.717T>G (p.Tyr239Ter) c.219T>G (p.Tyr73Ter) c.489T>G (p.Tyr163Ter) c.780T>G (p.Tyr260Ter) | |
| 5 | g.161330991A>G | CA447691385 | GABRB2 | c.969T>C (p.Tyr323=) n.1051T>C c.*428T>C (n.*428T>C) c.717T>C (p.Tyr239=) c.219T>C (p.Tyr73=) c.489T>C (p.Tyr163=) c.780T>C (p.Tyr260=) | |
| 5 | g.161330991A>T | CA362175221 | GABRB2 | c.969T>A (p.Tyr323Ter) n.1051T>A c.*428T>A (n.*428T>A) c.717T>A (p.Tyr239Ter) c.219T>A (p.Tyr73Ter) c.489T>A (p.Tyr163Ter) c.780T>A (p.Tyr260Ter) | |
| 5 | g.161330992T>A | CA362175222 | GABRB2 | c.968A>T (p.Tyr323Phe) n.1050A>T c.*427A>T (n.*427A>T) c.716A>T (p.Tyr239Phe) c.218A>T (p.Tyr73Phe) c.488A>T (p.Tyr163Phe) c.779A>T (p.Tyr260Phe) | ClinVar dbSNP |
| 5 | g.161330992T>C | CA362175223 | GABRB2 | c.968A>G (p.Tyr323Cys) n.1050A>G c.*427A>G (n.*427A>G) c.716A>G (p.Tyr239Cys) c.218A>G (p.Tyr73Cys) c.488A>G (p.Tyr163Cys) c.779A>G (p.Tyr260Cys) | |
| 5 | g.161330992T>G | CA362175224 | GABRB2 | c.968A>C (p.Tyr323Ser) n.1050A>C c.*427A>C (n.*427A>C) c.716A>C (p.Tyr239Ser) c.218A>C (p.Tyr73Ser) c.488A>C (p.Tyr163Ser) c.779A>C (p.Tyr260Ser) | |
| 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 |