| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162103892G>A | CA362184967 | GABRG2 | c.597G>A c.755G>A (p.Gly252Asp) n.526G>A c.718G>A c.350G>A (p.Gly117Asp) c.635G>A (p.Gly212Asp) n.697G>A c.512G>A c.26G>A (p.Gly9Asp) c.563G>A (p.Gly188Asp) c.107+35786G>A (n.107+35786G>A) c.569G>A (p.Gly190Asp) n.3166G>A c.73G>A c.548G>A (p.Gly183Asp) c.*237G>A (n.*237G>A) c.756G>A (n.756G>A) c.626G>A (p.Gly209Asp) c.215G>A (p.Gly72Asp) | |
| 5 | g.162103892G>C | CA362184968 | GABRG2 | c.597G>C c.755G>C (p.Gly252Ala) n.526G>C c.718G>C c.350G>C (p.Gly117Ala) c.635G>C (p.Gly212Ala) n.697G>C c.512G>C c.26G>C (p.Gly9Ala) c.563G>C (p.Gly188Ala) c.107+35786G>C (n.107+35786G>C) c.569G>C (p.Gly190Ala) n.3166G>C c.73G>C c.548G>C (p.Gly183Ala) c.*237G>C (n.*237G>C) c.756G>C (n.756G>C) c.626G>C (p.Gly209Ala) c.215G>C (p.Gly72Ala) | |
| 5 | g.162103892G>T | CA362184969 | GABRG2 | c.597G>T c.755G>T (p.Gly252Val) n.526G>T c.718G>T c.350G>T (p.Gly117Val) c.635G>T (p.Gly212Val) n.697G>T c.512G>T c.26G>T (p.Gly9Val) c.563G>T (p.Gly188Val) c.107+35786G>T (n.107+35786G>T) c.569G>T (p.Gly190Val) n.3166G>T c.73G>T c.548G>T (p.Gly183Val) c.*237G>T (n.*237G>T) c.756G>T (n.756G>T) c.626G>T (p.Gly209Val) c.215G>T (p.Gly72Val) | |
| 5 | g.162103893C>A | CA447609918 | GABRG2 | c.598C>A c.756C>A (p.Gly252=) n.527C>A c.719C>A c.351C>A (p.Gly117=) c.636C>A (p.Gly212=) n.698C>A c.513C>A c.27C>A (p.Gly9=) c.564C>A (p.Gly188=) c.107+35787C>A (n.107+35787C>A) c.570C>A (p.Gly190=) n.3167C>A c.74C>A c.549C>A (p.Gly183=) c.*238C>A (n.*238C>A) c.757C>A (n.757C>A) c.627C>A (p.Gly209=) c.216C>A (p.Gly72=) | |
| 5 | g.162103893C= | CA1596365199 | GABRG2 | c.598C= c.756C= (p.Gly252=) n.527C= c.719C= c.351C= (p.Gly117=) c.636C= (p.Gly212=) n.698C= c.513C= c.27C= (p.Gly9=) c.564C= (p.Gly188=) c.107+35787C= (n.107+35787C=) c.570C= (p.Gly190=) n.3167C= c.74C= c.549C= (p.Gly183=) c.*238C= (n.*238C=) c.757C= (n.757C=) c.627C= (p.Gly209=) c.216C= (p.Gly72=) | |
| 5 | g.162103893C>G | CA447609919 | GABRG2 | c.598C>G c.756C>G (p.Gly252=) n.527C>G c.719C>G c.351C>G (p.Gly117=) c.636C>G (p.Gly212=) n.698C>G c.513C>G c.27C>G (p.Gly9=) c.564C>G (p.Gly188=) c.107+35787C>G (n.107+35787C>G) c.570C>G (p.Gly190=) n.3167C>G c.74C>G c.549C>G (p.Gly183=) c.*238C>G (n.*238C>G) c.757C>G (n.757C>G) c.627C>G (p.Gly209=) c.216C>G (p.Gly72=) | |
| 5 | g.162103893C>T | CA447609921 | GABRG2 | c.598C>T c.756C>T (p.Gly252=) n.527C>T c.719C>T c.351C>T (p.Gly117=) c.636C>T (p.Gly212=) n.698C>T c.513C>T c.27C>T (p.Gly9=) c.564C>T (p.Gly188=) c.107+35787C>T (n.107+35787C>T) c.570C>T (p.Gly190=) n.3167C>T c.74C>T c.549C>T (p.Gly183=) c.*238C>T (n.*238C>T) c.757C>T (n.757C>T) c.627C>T (p.Gly209=) c.216C>T (p.Gly72=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.162103894T>A | CA362184970 | GABRG2 | c.599T>A c.757T>A (p.Tyr253Asn) n.528T>A c.720T>A c.352T>A (p.Tyr118Asn) c.637T>A (p.Tyr213Asn) n.699T>A c.514T>A c.28T>A (p.Tyr10Asn) c.565T>A (p.Tyr189Asn) c.107+35788T>A (n.107+35788T>A) c.571T>A (p.Tyr191Asn) n.3168T>A c.75T>A c.550T>A (p.Tyr184Asn) c.*239T>A (n.*239T>A) c.758T>A (n.758T>A) c.628T>A (p.Tyr210Asn) c.217T>A (p.Tyr73Asn) | COSMIC |
| 5 | g.162103894T>C | CA362184971 | GABRG2 | c.599T>C c.757T>C (p.Tyr253His) n.528T>C c.720T>C c.352T>C (p.Tyr118His) c.637T>C (p.Tyr213His) n.699T>C c.514T>C c.28T>C (p.Tyr10His) c.565T>C (p.Tyr189His) c.107+35788T>C (n.107+35788T>C) c.571T>C (p.Tyr191His) n.3168T>C c.75T>C c.550T>C (p.Tyr184His) c.*239T>C (n.*239T>C) c.758T>C (n.758T>C) c.628T>C (p.Tyr210His) c.217T>C (p.Tyr73His) | |
| 5 | g.162103894T>G | CA362184972 | GABRG2 | c.599T>G c.757T>G (p.Tyr253Asp) n.528T>G c.720T>G c.352T>G (p.Tyr118Asp) c.637T>G (p.Tyr213Asp) n.699T>G c.514T>G c.28T>G (p.Tyr10Asp) c.565T>G (p.Tyr189Asp) c.107+35788T>G (n.107+35788T>G) c.571T>G (p.Tyr191Asp) n.3168T>G c.75T>G c.550T>G (p.Tyr184Asp) c.*239T>G (n.*239T>G) c.758T>G (n.758T>G) c.628T>G (p.Tyr210Asp) c.217T>G (p.Tyr73Asp) | |
| 5 | g.162103895A>C | CA362184974 | GABRG2 | c.600A>C c.758A>C (p.Tyr253Ser) n.529A>C c.721A>C c.353A>C (p.Tyr118Ser) c.638A>C (p.Tyr213Ser) n.700A>C c.515A>C c.29A>C (p.Tyr10Ser) c.566A>C (p.Tyr189Ser) c.107+35789A>C (n.107+35789A>C) c.572A>C (p.Tyr191Ser) n.3169A>C c.76A>C c.551A>C (p.Tyr184Ser) c.*240A>C (n.*240A>C) c.759A>C (n.759A>C) c.629A>C (p.Tyr210Ser) c.218A>C (p.Tyr73Ser) | |
| 5 | g.162103895A>G | CA362184975 | GABRG2 | c.600A>G c.758A>G (p.Tyr253Cys) n.529A>G c.721A>G c.353A>G (p.Tyr118Cys) c.638A>G (p.Tyr213Cys) n.700A>G c.515A>G c.29A>G (p.Tyr10Cys) c.566A>G (p.Tyr189Cys) c.107+35789A>G (n.107+35789A>G) c.572A>G (p.Tyr191Cys) n.3169A>G c.76A>G c.551A>G (p.Tyr184Cys) c.*240A>G (n.*240A>G) c.759A>G (n.759A>G) c.629A>G (p.Tyr210Cys) c.218A>G (p.Tyr73Cys) | |
| 5 | g.162103895A>T | CA362184973 | GABRG2 | c.600A>T c.758A>T (p.Tyr253Phe) n.529A>T c.721A>T c.353A>T (p.Tyr118Phe) c.638A>T (p.Tyr213Phe) n.700A>T c.515A>T c.29A>T (p.Tyr10Phe) c.566A>T (p.Tyr189Phe) c.107+35789A>T (n.107+35789A>T) c.572A>T (p.Tyr191Phe) n.3169A>T c.76A>T c.551A>T (p.Tyr184Phe) c.*240A>T (n.*240A>T) c.759A>T (n.759A>T) c.629A>T (p.Tyr210Phe) c.218A>T (p.Tyr73Phe) | |
| 5 | g.162103896T>A | CA362184976 | GABRG2 | c.601T>A c.759T>A (p.Tyr253Ter) n.530T>A c.722T>A c.354T>A (p.Tyr118Ter) c.639T>A (p.Tyr213Ter) n.701T>A c.516T>A c.30T>A (p.Tyr10Ter) c.567T>A (p.Tyr189Ter) c.107+35790T>A (n.107+35790T>A) c.573T>A (p.Tyr191Ter) n.3170T>A c.77T>A c.552T>A (p.Tyr184Ter) c.*241T>A (n.*241T>A) c.760T>A (n.760T>A) c.630T>A (p.Tyr210Ter) c.219T>A (p.Tyr73Ter) | |
| 5 | g.162103896T>C | CA447609922 | GABRG2 | c.601T>C c.759T>C (p.Tyr253=) n.530T>C c.722T>C c.354T>C (p.Tyr118=) c.639T>C (p.Tyr213=) n.701T>C c.516T>C c.30T>C (p.Tyr10=) c.567T>C (p.Tyr189=) c.107+35790T>C (n.107+35790T>C) c.573T>C (p.Tyr191=) n.3170T>C c.77T>C c.552T>C (p.Tyr184=) c.*241T>C (n.*241T>C) c.760T>C (n.760T>C) c.630T>C (p.Tyr210=) c.219T>C (p.Tyr73=) | |
| 5 | g.162103896T>G | CA362184977 | GABRG2 | c.601T>G c.759T>G (p.Tyr253Ter) n.530T>G c.722T>G c.354T>G (p.Tyr118Ter) c.639T>G (p.Tyr213Ter) n.701T>G c.516T>G c.30T>G (p.Tyr10Ter) c.567T>G (p.Tyr189Ter) c.107+35790T>G (n.107+35790T>G) c.573T>G (p.Tyr191Ter) n.3170T>G c.77T>G c.552T>G (p.Tyr184Ter) c.*241T>G (n.*241T>G) c.760T>G (n.760T>G) c.630T>G (p.Tyr210Ter) c.219T>G (p.Tyr73Ter) | |
| 5 | g.162103897C>A | CA362184978 | GABRG2 | c.602C>A c.760C>A (p.Pro254Thr) n.531C>A c.723C>A c.355C>A (p.Pro119Thr) c.640C>A (p.Pro214Thr) n.702C>A c.517C>A c.31C>A (p.Pro11Thr) c.568C>A (p.Pro190Thr) c.107+35791C>A (n.107+35791C>A) c.574C>A (p.Pro192Thr) n.3171C>A c.78C>A c.553C>A (p.Pro185Thr) c.*242C>A (n.*242C>A) c.761C>A (n.761C>A) c.631C>A (p.Pro211Thr) c.220C>A (p.Pro74Thr) | |
| 5 | g.162103897C>G | CA362184979 | GABRG2 | c.602C>G c.760C>G (p.Pro254Ala) n.531C>G c.723C>G c.355C>G (p.Pro119Ala) c.640C>G (p.Pro214Ala) n.702C>G c.517C>G c.31C>G (p.Pro11Ala) c.568C>G (p.Pro190Ala) c.107+35791C>G (n.107+35791C>G) c.574C>G (p.Pro192Ala) n.3171C>G c.78C>G c.553C>G (p.Pro185Ala) c.*242C>G (n.*242C>G) c.761C>G (n.761C>G) c.631C>G (p.Pro211Ala) c.220C>G (p.Pro74Ala) | |
| 5 | g.162103897C>T | CA362184980 | GABRG2 | c.602C>T c.760C>T (p.Pro254Ser) n.531C>T c.723C>T c.355C>T (p.Pro119Ser) c.640C>T (p.Pro214Ser) n.702C>T c.517C>T c.31C>T (p.Pro11Ser) c.568C>T (p.Pro190Ser) c.107+35791C>T (n.107+35791C>T) c.574C>T (p.Pro192Ser) n.3171C>T c.78C>T c.553C>T (p.Pro185Ser) c.*242C>T (n.*242C>T) c.761C>T (n.761C>T) c.631C>T (p.Pro211Ser) c.220C>T (p.Pro74Ser) | |
| 5 | g.162103898C>A | CA362184983 | GABRG2 | c.603C>A c.761C>A (p.Pro254Gln) n.532C>A c.724C>A c.356C>A (p.Pro119Gln) c.641C>A (p.Pro214Gln) n.703C>A c.518C>A c.32C>A (p.Pro11Gln) c.569C>A (p.Pro190Gln) c.107+35792C>A (n.107+35792C>A) c.575C>A (p.Pro192Gln) n.3172C>A c.79C>A c.554C>A (p.Pro185Gln) c.*243C>A (n.*243C>A) c.762C>A (n.762C>A) c.632C>A (p.Pro211Gln) c.221C>A (p.Pro74Gln) | |
| 5 | g.162103898C>G | CA362184981 | GABRG2 | c.603C>G c.761C>G (p.Pro254Arg) n.532C>G c.724C>G c.356C>G (p.Pro119Arg) c.641C>G (p.Pro214Arg) n.703C>G c.518C>G c.32C>G (p.Pro11Arg) c.569C>G (p.Pro190Arg) c.107+35792C>G (n.107+35792C>G) c.575C>G (p.Pro192Arg) n.3172C>G c.79C>G c.554C>G (p.Pro185Arg) c.*243C>G (n.*243C>G) c.762C>G (n.762C>G) c.632C>G (p.Pro211Arg) c.221C>G (p.Pro74Arg) | |
| 5 | g.162103898C>T | CA362184982 | GABRG2 | c.603C>T c.761C>T (p.Pro254Leu) n.532C>T c.724C>T c.356C>T (p.Pro119Leu) c.641C>T (p.Pro214Leu) n.703C>T c.518C>T c.32C>T (p.Pro11Leu) c.569C>T (p.Pro190Leu) c.107+35792C>T (n.107+35792C>T) c.575C>T (p.Pro192Leu) n.3172C>T c.79C>T c.554C>T (p.Pro185Leu) c.*243C>T (n.*243C>T) c.762C>T (n.762C>T) c.632C>T (p.Pro211Leu) c.221C>T (p.Pro74Leu) | |
| 5 | g.162103899A= | CA1596365200 | GABRG2 | c.604A= c.762A= (p.Pro254=) n.533A= c.725A= c.357A= (p.Pro119=) c.642A= (p.Pro214=) n.704A= c.519A= c.33A= (p.Pro11=) c.570A= (p.Pro190=) c.107+35793A= (n.107+35793A=) c.576A= (p.Pro192=) n.3173A= c.80A= c.555A= (p.Pro185=) c.*244A= (n.*244A=) c.763A= (n.763A=) c.633A= (p.Pro211=) c.222A= (p.Pro74=) | |
| 5 | g.162103899A>C | CA131112327 | GABRG2 | c.604A>C c.762A>C (p.Pro254=) n.533A>C c.725A>C c.357A>C (p.Pro119=) c.642A>C (p.Pro214=) n.704A>C c.519A>C c.33A>C (p.Pro11=) c.570A>C (p.Pro190=) c.107+35793A>C (n.107+35793A>C) c.576A>C (p.Pro192=) n.3173A>C c.80A>C c.555A>C (p.Pro185=) c.*244A>C (n.*244A>C) c.763A>C (n.763A>C) c.633A>C (p.Pro211=) c.222A>C (p.Pro74=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.162103899A>G | CA447609925 | GABRG2 | c.604A>G c.762A>G (p.Pro254=) n.533A>G c.725A>G c.357A>G (p.Pro119=) c.642A>G (p.Pro214=) n.704A>G c.519A>G c.33A>G (p.Pro11=) c.570A>G (p.Pro190=) c.107+35793A>G (n.107+35793A>G) c.576A>G (p.Pro192=) n.3173A>G c.80A>G c.555A>G (p.Pro185=) c.*244A>G (n.*244A>G) c.763A>G (n.763A>G) c.633A>G (p.Pro211=) c.222A>G (p.Pro74=) | |
| 5 | g.162103899A>T | CA447609926 | GABRG2 | c.604A>T c.762A>T (p.Pro254=) n.533A>T c.725A>T c.357A>T (p.Pro119=) c.642A>T (p.Pro214=) n.704A>T c.519A>T c.33A>T (p.Pro11=) c.570A>T (p.Pro190=) c.107+35793A>T (n.107+35793A>T) c.576A>T (p.Pro192=) n.3173A>T c.80A>T c.555A>T (p.Pro185=) c.*244A>T (n.*244A>T) c.763A>T (n.763A>T) c.633A>T (p.Pro211=) c.222A>T (p.Pro74=) | |
| 5 | g.162103900C>A | CA362184984 | GABRG2 | c.605C>A c.763C>A (p.Arg255Ser) n.534C>A c.726C>A c.358C>A (p.Arg120Ser) c.643C>A (p.Arg215Ser) n.705C>A c.520C>A c.34C>A (p.Arg12Ser) c.571C>A (p.Arg191Ser) c.107+35794C>A (n.107+35794C>A) c.577C>A (p.Arg193Ser) n.3174C>A c.81C>A c.556C>A (p.Arg186Ser) c.*245C>A (n.*245C>A) c.764C>A (n.764C>A) c.634C>A (p.Arg212Ser) c.223C>A (p.Arg75Ser) | ClinVar gnomAD v4 |
| 5 | g.162103900C= | CA1596365201 | GABRG2 | c.605C= c.763C= (p.Arg255=) n.534C= c.726C= c.358C= (p.Arg120=) c.643C= (p.Arg215=) n.705C= c.520C= c.34C= (p.Arg12=) c.571C= (p.Arg191=) c.107+35794C= (n.107+35794C=) c.577C= (p.Arg193=) n.3174C= c.81C= c.556C= (p.Arg186=) c.*245C= (n.*245C=) c.764C= (n.764C=) c.634C= (p.Arg212=) c.223C= (p.Arg75=) | |
| 5 | g.162103900C>G | CA362184985 | GABRG2 | c.605C>G c.763C>G (p.Arg255Gly) n.534C>G c.726C>G c.358C>G (p.Arg120Gly) c.643C>G (p.Arg215Gly) n.705C>G c.520C>G c.34C>G (p.Arg12Gly) c.571C>G (p.Arg191Gly) c.107+35794C>G (n.107+35794C>G) c.577C>G (p.Arg193Gly) n.3174C>G c.81C>G c.556C>G (p.Arg186Gly) c.*245C>G (n.*245C>G) c.764C>G (n.764C>G) c.634C>G (p.Arg212Gly) c.223C>G (p.Arg75Gly) | |
| 5 | g.162103900C>T | CA3544797 | GABRG2 | c.605C>T c.763C>T (p.Arg255Cys) n.534C>T c.726C>T c.358C>T (p.Arg120Cys) c.643C>T (p.Arg215Cys) n.705C>T c.520C>T c.34C>T (p.Arg12Cys) c.571C>T (p.Arg191Cys) c.107+35794C>T (n.107+35794C>T) c.577C>T (p.Arg193Cys) n.3174C>T c.81C>T c.556C>T (p.Arg186Cys) c.*245C>T (n.*245C>T) c.764C>T (n.764C>T) c.634C>T (p.Arg212Cys) c.223C>T (p.Arg75Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162103901G>A | CA362184986 | GABRG2 | c.606G>A c.764G>A (p.Arg255His) n.535G>A c.727G>A c.359G>A (p.Arg120His) c.644G>A (p.Arg215His) n.706G>A c.521G>A c.35G>A (p.Arg12His) c.572G>A (p.Arg191His) c.107+35795G>A (n.107+35795G>A) c.578G>A (p.Arg193His) n.3175G>A c.82G>A c.557G>A (p.Arg186His) c.*246G>A (n.*246G>A) c.765G>A (n.765G>A) c.635G>A (p.Arg212His) c.224G>A (p.Arg75His) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.162103901G>C | CA362184987 | GABRG2 | c.606G>C c.764G>C (p.Arg255Pro) n.535G>C c.727G>C c.359G>C (p.Arg120Pro) c.644G>C (p.Arg215Pro) n.706G>C c.521G>C c.35G>C (p.Arg12Pro) c.572G>C (p.Arg191Pro) c.107+35795G>C (n.107+35795G>C) c.578G>C (p.Arg193Pro) n.3175G>C c.82G>C c.557G>C (p.Arg186Pro) c.*246G>C (n.*246G>C) c.765G>C (n.765G>C) c.635G>C (p.Arg212Pro) c.224G>C (p.Arg75Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.162103901G= | CA1596365202 | GABRG2 | c.606G= c.764G= (p.Arg255=) n.535G= c.727G= c.359G= (p.Arg120=) c.644G= (p.Arg215=) n.706G= c.521G= c.35G= (p.Arg12=) c.572G= (p.Arg191=) c.107+35795G= (n.107+35795G=) c.578G= (p.Arg193=) n.3175G= c.82G= c.557G= (p.Arg186=) c.*246G= (n.*246G=) c.765G= (n.765G=) c.635G= (p.Arg212=) c.224G= (p.Arg75=) | |
| 5 | g.162103901G>T | CA362184988 | GABRG2 | c.606G>T c.764G>T (p.Arg255Leu) n.535G>T c.727G>T c.359G>T (p.Arg120Leu) c.644G>T (p.Arg215Leu) n.706G>T c.521G>T c.35G>T (p.Arg12Leu) c.572G>T (p.Arg191Leu) c.107+35795G>T (n.107+35795G>T) c.578G>T (p.Arg193Leu) n.3175G>T c.82G>T c.557G>T (p.Arg186Leu) c.*246G>T (n.*246G>T) c.765G>T (n.765G>T) c.635G>T (p.Arg212Leu) c.224G>T (p.Arg75Leu) | ClinVar dbSNP gnomAD v4 |
| 5 | g.162103902T>A | CA447609927 | GABRG2 | c.607T>A c.765T>A (p.Arg255=) n.536T>A c.728T>A c.360T>A (p.Arg120=) c.645T>A (p.Arg215=) n.707T>A c.522T>A c.36T>A (p.Arg12=) c.573T>A (p.Arg191=) c.107+35796T>A (n.107+35796T>A) c.579T>A (p.Arg193=) n.3176T>A c.83T>A c.558T>A (p.Arg186=) c.*247T>A (n.*247T>A) c.766T>A (n.766T>A) c.636T>A (p.Arg212=) c.225T>A (p.Arg75=) | |
| 5 | g.162103902T>C | CA447609928 | GABRG2 | c.607T>C c.765T>C (p.Arg255=) n.536T>C c.728T>C c.360T>C (p.Arg120=) c.645T>C (p.Arg215=) n.707T>C c.522T>C c.36T>C (p.Arg12=) c.573T>C (p.Arg191=) c.107+35796T>C (n.107+35796T>C) c.579T>C (p.Arg193=) n.3176T>C c.83T>C c.558T>C (p.Arg186=) c.*247T>C (n.*247T>C) c.766T>C (n.766T>C) c.636T>C (p.Arg212=) c.225T>C (p.Arg75=) | |
| 5 | g.162103902T>G | CA447609929 | GABRG2 | c.607T>G c.765T>G (p.Arg255=) n.536T>G c.728T>G c.360T>G (p.Arg120=) c.645T>G (p.Arg215=) n.707T>G c.522T>G c.36T>G (p.Arg12=) c.573T>G (p.Arg191=) c.107+35796T>G (n.107+35796T>G) c.579T>G (p.Arg193=) n.3176T>G c.83T>G c.558T>G (p.Arg186=) c.*247T>G (n.*247T>G) c.766T>G (n.766T>G) c.636T>G (p.Arg212=) c.225T>G (p.Arg75=) | |
| 5 | g.162103903G>A | CA362184990 | GABRG2 | c.608G>A c.766G>A (p.Glu256Lys) n.537G>A c.729G>A c.361G>A (p.Glu121Lys) c.646G>A (p.Glu216Lys) n.708G>A c.523G>A c.37G>A (p.Glu13Lys) c.574G>A (p.Glu192Lys) c.107+35797G>A (n.107+35797G>A) c.580G>A (p.Glu194Lys) n.3177G>A c.84G>A c.559G>A (p.Glu187Lys) c.*248G>A (n.*248G>A) c.767G>A (n.767G>A) c.637G>A (p.Glu213Lys) c.226G>A (p.Glu76Lys) | |
| 5 | g.162103903G>C | CA362184991 | GABRG2 | c.608G>C c.766G>C (p.Glu256Gln) n.537G>C c.729G>C c.361G>C (p.Glu121Gln) c.646G>C (p.Glu216Gln) n.708G>C c.523G>C c.37G>C (p.Glu13Gln) c.574G>C (p.Glu192Gln) c.107+35797G>C (n.107+35797G>C) c.580G>C (p.Glu194Gln) n.3177G>C c.84G>C c.559G>C (p.Glu187Gln) c.*248G>C (n.*248G>C) c.767G>C (n.767G>C) c.637G>C (p.Glu213Gln) c.226G>C (p.Glu76Gln) | |
| 5 | g.162103903G>T | CA362184989 | GABRG2 | c.608G>T c.766G>T (p.Glu256Ter) n.537G>T c.729G>T c.361G>T (p.Glu121Ter) c.646G>T (p.Glu216Ter) n.708G>T c.523G>T c.37G>T (p.Glu13Ter) c.574G>T (p.Glu192Ter) c.107+35797G>T (n.107+35797G>T) c.580G>T (p.Glu194Ter) n.3177G>T c.84G>T c.559G>T (p.Glu187Ter) c.*248G>T (n.*248G>T) c.767G>T (n.767G>T) c.637G>T (p.Glu213Ter) c.226G>T (p.Glu76Ter) | |
| 5 | g.162103904A>C | CA362184994 | GABRG2 | c.609A>C c.767A>C (p.Glu256Ala) n.538A>C c.730A>C c.362A>C (p.Glu121Ala) c.647A>C (p.Glu216Ala) n.709A>C c.524A>C c.38A>C (p.Glu13Ala) c.575A>C (p.Glu192Ala) c.107+35798A>C (n.107+35798A>C) c.581A>C (p.Glu194Ala) n.3178A>C c.85A>C c.560A>C (p.Glu187Ala) c.*249A>C (n.*249A>C) c.768A>C (n.768A>C) c.638A>C (p.Glu213Ala) c.227A>C (p.Glu76Ala) | |
| 5 | g.162103904A>G | CA362184992 | GABRG2 | c.609A>G c.767A>G (p.Glu256Gly) n.538A>G c.730A>G c.362A>G (p.Glu121Gly) c.647A>G (p.Glu216Gly) n.709A>G c.524A>G c.38A>G (p.Glu13Gly) c.575A>G (p.Glu192Gly) c.107+35798A>G (n.107+35798A>G) c.581A>G (p.Glu194Gly) n.3178A>G c.85A>G c.560A>G (p.Glu187Gly) c.*249A>G (n.*249A>G) c.768A>G (n.768A>G) c.638A>G (p.Glu213Gly) c.227A>G (p.Glu76Gly) | |
| 5 | g.162103904A>T | CA362184993 | GABRG2 | c.609A>T c.767A>T (p.Glu256Val) n.538A>T c.730A>T c.362A>T (p.Glu121Val) c.647A>T (p.Glu216Val) n.709A>T c.524A>T c.38A>T (p.Glu13Val) c.575A>T (p.Glu192Val) c.107+35798A>T (n.107+35798A>T) c.581A>T (p.Glu194Val) n.3178A>T c.85A>T c.560A>T (p.Glu187Val) c.*249A>T (n.*249A>T) c.768A>T (n.768A>T) c.638A>T (p.Glu213Val) c.227A>T (p.Glu76Val) | |
| 5 | g.162103905A>C | CA362184995 | GABRG2 | c.610A>C c.768A>C (p.Glu256Asp) n.539A>C c.731A>C c.363A>C (p.Glu121Asp) c.648A>C (p.Glu216Asp) n.710A>C c.525A>C c.39A>C (p.Glu13Asp) c.576A>C (p.Glu192Asp) c.107+35799A>C (n.107+35799A>C) c.582A>C (p.Glu194Asp) n.3179A>C c.86A>C c.561A>C (p.Glu187Asp) c.*250A>C (n.*250A>C) c.769A>C (n.769A>C) c.639A>C (p.Glu213Asp) c.228A>C (p.Glu76Asp) | |
| 5 | g.162103905A>G | CA447609931 | GABRG2 | c.610A>G c.768A>G (p.Glu256=) n.539A>G c.731A>G c.363A>G (p.Glu121=) c.648A>G (p.Glu216=) n.710A>G c.525A>G c.39A>G (p.Glu13=) c.576A>G (p.Glu192=) c.107+35799A>G (n.107+35799A>G) c.582A>G (p.Glu194=) n.3179A>G c.86A>G c.561A>G (p.Glu187=) c.*250A>G (n.*250A>G) c.769A>G (n.769A>G) c.639A>G (p.Glu213=) c.228A>G (p.Glu76=) | |
| 5 | g.162103905A>T | CA362184996 | GABRG2 | c.610A>T c.768A>T (p.Glu256Asp) n.539A>T c.731A>T c.363A>T (p.Glu121Asp) c.648A>T (p.Glu216Asp) n.710A>T c.525A>T c.39A>T (p.Glu13Asp) c.576A>T (p.Glu192Asp) c.107+35799A>T (n.107+35799A>T) c.582A>T (p.Glu194Asp) n.3179A>T c.86A>T c.561A>T (p.Glu187Asp) c.*250A>T (n.*250A>T) c.769A>T (n.769A>T) c.639A>T (p.Glu213Asp) c.228A>T (p.Glu76Asp) | |
| 5 | g.162103906G>A | CA362184997 | GABRG2 | c.611G>A c.769G>A (p.Glu257Lys) n.540G>A c.732G>A c.364G>A (p.Glu122Lys) c.649G>A (p.Glu217Lys) n.711G>A c.526G>A c.40G>A (p.Glu14Lys) c.577G>A (p.Glu193Lys) c.107+35800G>A (n.107+35800G>A) c.583G>A (p.Glu195Lys) n.3180G>A c.87G>A c.562G>A (p.Glu188Lys) c.*251G>A (n.*251G>A) c.770G>A (n.770G>A) c.640G>A (p.Glu214Lys) c.229G>A (p.Glu77Lys) | |
| 5 | g.162103906G>C | CA362184998 | GABRG2 | c.611G>C c.769G>C (p.Glu257Gln) n.540G>C c.732G>C c.364G>C (p.Glu122Gln) c.649G>C (p.Glu217Gln) n.711G>C c.526G>C c.40G>C (p.Glu14Gln) c.577G>C (p.Glu193Gln) c.107+35800G>C (n.107+35800G>C) c.583G>C (p.Glu195Gln) n.3180G>C c.87G>C c.562G>C (p.Glu188Gln) c.*251G>C (n.*251G>C) c.770G>C (n.770G>C) c.640G>C (p.Glu214Gln) c.229G>C (p.Glu77Gln) | |
| 5 | g.162103906G>T | CA362184999 | GABRG2 | c.611G>T c.769G>T (p.Glu257Ter) n.540G>T c.732G>T c.364G>T (p.Glu122Ter) c.649G>T (p.Glu217Ter) n.711G>T c.526G>T c.40G>T (p.Glu14Ter) c.577G>T (p.Glu193Ter) c.107+35800G>T (n.107+35800G>T) c.583G>T (p.Glu195Ter) n.3180G>T c.87G>T c.562G>T (p.Glu188Ter) c.*251G>T (n.*251G>T) c.770G>T (n.770G>T) c.640G>T (p.Glu214Ter) c.229G>T (p.Glu77Ter) | gnomAD v4 |
| 5 | g.162103907A= | CA1596365203 | GABRG2 | c.612A= c.770A= (p.Glu257=) n.541A= c.733A= c.365A= (p.Glu122=) c.650A= (p.Glu217=) n.712A= c.527A= c.41A= (p.Glu14=) c.578A= (p.Glu193=) c.107+35801A= (n.107+35801A=) c.584A= (p.Glu195=) n.3181A= c.88A= c.563A= (p.Glu188=) c.*252A= (n.*252A=) c.771A= (n.771A=) c.641A= (p.Glu214=) c.230A= (p.Glu77=) |