| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.162103948G>A | CA3544802 | GABRG2 | c.653G>A c.811G>A (p.Asp271Asn) n.582G>A c.774G>A c.406G>A (p.Asp136Asn) c.691G>A (p.Asp231Asn) n.753G>A c.568G>A c.82G>A (p.Asp28Asn) c.619G>A (p.Asp207Asn) c.107+35842G>A (n.107+35842G>A) c.625G>A (p.Asp209Asn) n.3222G>A c.129G>A c.604G>A (p.Asp202Asn) c.*293G>A (n.*293G>A) c.812G>A (n.812G>A) c.682G>A (p.Asp228Asn) c.271G>A (p.Asp91Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 5 | g.162103948G>C | CA362185092 | GABRG2 | c.653G>C c.811G>C (p.Asp271His) n.582G>C c.774G>C c.406G>C (p.Asp136His) c.691G>C (p.Asp231His) n.753G>C c.568G>C c.82G>C (p.Asp28His) c.619G>C (p.Asp207His) c.107+35842G>C (n.107+35842G>C) c.625G>C (p.Asp209His) n.3222G>C c.129G>C c.604G>C (p.Asp202His) c.*293G>C (n.*293G>C) c.812G>C (n.812G>C) c.682G>C (p.Asp228His) c.271G>C (p.Asp91His) | |
| 5 | g.162103948G= | CA1596365217 | GABRG2 | c.653G= c.811G= (p.Asp271=) n.582G= c.774G= c.406G= (p.Asp136=) c.691G= (p.Asp231=) n.753G= c.568G= c.82G= (p.Asp28=) c.619G= (p.Asp207=) c.107+35842G= (n.107+35842G=) c.625G= (p.Asp209=) n.3222G= c.129G= c.604G= (p.Asp202=) c.*293G= (n.*293G=) c.812G= (n.812G=) c.682G= (p.Asp228=) c.271G= (p.Asp91=) | |
| 5 | g.162103948G>T | CA362185093 | GABRG2 | c.653G>T c.811G>T (p.Asp271Tyr) n.582G>T c.774G>T c.406G>T (p.Asp136Tyr) c.691G>T (p.Asp231Tyr) n.753G>T c.568G>T c.82G>T (p.Asp28Tyr) c.619G>T (p.Asp207Tyr) c.107+35842G>T (n.107+35842G>T) c.625G>T (p.Asp209Tyr) n.3222G>T c.129G>T c.604G>T (p.Asp202Tyr) c.*293G>T (n.*293G>T) c.812G>T (n.812G>T) c.682G>T (p.Asp228Tyr) c.271G>T (p.Asp91Tyr) | ClinVar gnomAD v4 |
| 5 | g.162103949A>C | CA362185094 | GABRG2 | c.654A>C c.812A>C (p.Asp271Ala) n.583A>C c.775A>C c.407A>C (p.Asp136Ala) c.692A>C (p.Asp231Ala) n.754A>C c.569A>C c.83A>C (p.Asp28Ala) c.620A>C (p.Asp207Ala) c.107+35843A>C (n.107+35843A>C) c.626A>C (p.Asp209Ala) n.3223A>C c.130A>C c.605A>C (p.Asp202Ala) c.*294A>C (n.*294A>C) c.813A>C (n.813A>C) c.683A>C (p.Asp228Ala) c.272A>C (p.Asp91Ala) | |
| 5 | g.162103949A>G | CA362185095 | GABRG2 | c.654A>G c.812A>G (p.Asp271Gly) n.583A>G c.775A>G c.407A>G (p.Asp136Gly) c.692A>G (p.Asp231Gly) n.754A>G c.569A>G c.83A>G (p.Asp28Gly) c.620A>G (p.Asp207Gly) c.107+35843A>G (n.107+35843A>G) c.626A>G (p.Asp209Gly) n.3223A>G c.130A>G c.605A>G (p.Asp202Gly) c.*294A>G (n.*294A>G) c.813A>G (n.813A>G) c.683A>G (p.Asp228Gly) c.272A>G (p.Asp91Gly) | |
| 5 | g.162103949A>T | CA362185096 | GABRG2 | c.654A>T c.812A>T (p.Asp271Val) n.583A>T c.775A>T c.407A>T (p.Asp136Val) c.692A>T (p.Asp231Val) n.754A>T c.569A>T c.83A>T (p.Asp28Val) c.620A>T (p.Asp207Val) c.107+35843A>T (n.107+35843A>T) c.626A>T (p.Asp209Val) n.3223A>T c.130A>T c.605A>T (p.Asp202Val) c.*294A>T (n.*294A>T) c.813A>T (n.813A>T) c.683A>T (p.Asp228Val) c.272A>T (p.Asp91Val) | |
| 5 | g.162103950C>A | CA362185098 | GABRG2 | c.655C>A c.813C>A (p.Asp271Glu) n.584C>A c.776C>A c.408C>A (p.Asp136Glu) c.693C>A (p.Asp231Glu) n.755C>A c.570C>A c.84C>A (p.Asp28Glu) c.621C>A (p.Asp207Glu) c.107+35844C>A (n.107+35844C>A) c.627C>A (p.Asp209Glu) n.3224C>A c.131C>A c.606C>A (p.Asp202Glu) c.*295C>A (n.*295C>A) c.814C>A (n.814C>A) c.684C>A (p.Asp228Glu) c.273C>A (p.Asp91Glu) | |
| 5 | g.162103950C>G | CA362185097 | GABRG2 | c.655C>G c.813C>G (p.Asp271Glu) n.584C>G c.776C>G c.408C>G (p.Asp136Glu) c.693C>G (p.Asp231Glu) n.755C>G c.570C>G c.84C>G (p.Asp28Glu) c.621C>G (p.Asp207Glu) c.107+35844C>G (n.107+35844C>G) c.627C>G (p.Asp209Glu) n.3224C>G c.131C>G c.606C>G (p.Asp202Glu) c.*295C>G (n.*295C>G) c.814C>G (n.814C>G) c.684C>G (p.Asp228Glu) c.273C>G (p.Asp91Glu) | |
| 5 | g.162103950C>T | CA447609970 | GABRG2 | c.655C>T c.813C>T (p.Asp271=) n.584C>T c.776C>T c.408C>T (p.Asp136=) c.693C>T (p.Asp231=) n.755C>T c.570C>T c.84C>T (p.Asp28=) c.621C>T (p.Asp207=) c.107+35844C>T (n.107+35844C>T) c.627C>T (p.Asp209=) n.3224C>T c.131C>T c.606C>T (p.Asp202=) c.*295C>T (n.*295C>T) c.814C>T (n.814C>T) c.684C>T (p.Asp228=) c.273C>T (p.Asp91=) | |
| 5 | g.162103951A>C | CA362185099 | GABRG2 | c.656A>C c.814A>C (p.Thr272Pro) n.585A>C c.777A>C c.409A>C (p.Thr137Pro) c.694A>C (p.Thr232Pro) n.756A>C c.571A>C c.85A>C (p.Thr29Pro) c.622A>C (p.Thr208Pro) c.107+35845A>C (n.107+35845A>C) c.628A>C (p.Thr210Pro) n.3225A>C c.132A>C c.607A>C (p.Thr203Pro) c.*296A>C (n.*296A>C) c.815A>C (n.815A>C) c.685A>C (p.Thr229Pro) c.274A>C (p.Thr92Pro) | |
| 5 | g.162103951A>G | CA362185100 | GABRG2 | c.656A>G c.814A>G (p.Thr272Ala) n.585A>G c.777A>G c.409A>G (p.Thr137Ala) c.694A>G (p.Thr232Ala) n.756A>G c.571A>G c.85A>G (p.Thr29Ala) c.622A>G (p.Thr208Ala) c.107+35845A>G (n.107+35845A>G) c.628A>G (p.Thr210Ala) n.3225A>G c.132A>G c.607A>G (p.Thr203Ala) c.*296A>G (n.*296A>G) c.815A>G (n.815A>G) c.685A>G (p.Thr229Ala) c.274A>G (p.Thr92Ala) | gnomAD v4 |
| 5 | g.162103951A>T | CA362185101 | GABRG2 | c.656A>T c.814A>T (p.Thr272Ser) n.585A>T c.777A>T c.409A>T (p.Thr137Ser) c.694A>T (p.Thr232Ser) n.756A>T c.571A>T c.85A>T (p.Thr29Ser) c.622A>T (p.Thr208Ser) c.107+35845A>T (n.107+35845A>T) c.628A>T (p.Thr210Ser) n.3225A>T c.132A>T c.607A>T (p.Thr203Ser) c.*296A>T (n.*296A>T) c.815A>T (n.815A>T) c.685A>T (p.Thr229Ser) c.274A>T (p.Thr92Ser) | |
| 5 | g.162103952C>A | CA362185102 | GABRG2 | c.657C>A c.815C>A (p.Thr272Lys) n.586C>A c.778C>A c.410C>A (p.Thr137Lys) c.695C>A (p.Thr232Lys) n.757C>A c.572C>A c.86C>A (p.Thr29Lys) c.623C>A (p.Thr208Lys) c.107+35846C>A (n.107+35846C>A) c.629C>A (p.Thr210Lys) n.3226C>A c.133C>A c.608C>A (p.Thr203Lys) c.*297C>A (n.*297C>A) c.816C>A (n.816C>A) c.686C>A (p.Thr229Lys) c.275C>A (p.Thr92Lys) | |
| 5 | g.162103952C>G | CA362185103 | GABRG2 | c.657C>G c.815C>G (p.Thr272Arg) n.586C>G c.778C>G c.410C>G (p.Thr137Arg) c.695C>G (p.Thr232Arg) n.757C>G c.572C>G c.86C>G (p.Thr29Arg) c.623C>G (p.Thr208Arg) c.107+35846C>G (n.107+35846C>G) c.629C>G (p.Thr210Arg) n.3226C>G c.133C>G c.608C>G (p.Thr203Arg) c.*297C>G (n.*297C>G) c.816C>G (n.816C>G) c.686C>G (p.Thr229Arg) c.275C>G (p.Thr92Arg) | |
| 5 | g.162103952C>T | CA362185104 | GABRG2 | c.657C>T c.815C>T (p.Thr272Ile) n.586C>T c.778C>T c.410C>T (p.Thr137Ile) c.695C>T (p.Thr232Ile) n.757C>T c.572C>T c.86C>T (p.Thr29Ile) c.623C>T (p.Thr208Ile) c.107+35846C>T (n.107+35846C>T) c.629C>T (p.Thr210Ile) n.3226C>T c.133C>T c.608C>T (p.Thr203Ile) c.*297C>T (n.*297C>T) c.816C>T (n.816C>T) c.686C>T (p.Thr229Ile) c.275C>T (p.Thr92Ile) | |
| 5 | g.162103952_162103953delinsCA | CA1596365218 | GABRG2 | c.657_658delinsCA c.815_816delinsCA (p.Thr272=) n.586_587delinsCA c.778_779delinsCA c.410_411delinsCA (p.Thr137=) c.695_696delinsCA (p.Thr232=) n.757_758delinsCA c.572_573delinsCA c.86_87delinsCA (p.Thr29=) c.623_624delinsCA (p.Thr208=) c.107+35846_107+35847delinsCA (n.107+35846_107+35847delinsCA) c.629_630delinsCA (p.Thr210=) n.3226_3227delinsCA c.133_134delinsCA c.608_609delinsCA (p.Thr203=) c.*297_*298delinsCA (n.*297_*298delinsCA) c.816_817delinsCA (n.816_817delinsCA) c.686_687delinsCA (p.Thr229=) c.275_276delinsCA (p.Thr92=) | |
| 5 | g.162103953A= | CA1596365219 | GABRG2 | c.658A= c.816A= (p.Thr272=) n.587A= c.779A= c.411A= (p.Thr137=) c.696A= (p.Thr232=) n.758A= c.573A= c.87A= (p.Thr29=) c.624A= (p.Thr208=) c.107+35847A= (n.107+35847A=) c.630A= (p.Thr210=) n.3227A= c.134A= c.609A= (p.Thr203=) c.*298A= (n.*298A=) c.817A= (n.817A=) c.687A= (p.Thr229=) c.276A= (p.Thr92=) | |
| 5 | g.162103953A>C | CA447609972 | GABRG2 | c.658A>C c.816A>C (p.Thr272=) n.587A>C c.779A>C c.411A>C (p.Thr137=) c.696A>C (p.Thr232=) n.758A>C c.573A>C c.87A>C (p.Thr29=) c.624A>C (p.Thr208=) c.107+35847A>C (n.107+35847A>C) c.630A>C (p.Thr210=) n.3227A>C c.134A>C c.609A>C (p.Thr203=) c.*298A>C (n.*298A>C) c.817A>C (n.817A>C) c.687A>C (p.Thr229=) c.276A>C (p.Thr92=) | |
| 5 | g.162103953A>G | CA447609973 | GABRG2 | c.658A>G c.816A>G (p.Thr272=) n.587A>G c.779A>G c.411A>G (p.Thr137=) c.696A>G (p.Thr232=) n.758A>G c.573A>G c.87A>G (p.Thr29=) c.624A>G (p.Thr208=) c.107+35847A>G (n.107+35847A>G) c.630A>G (p.Thr210=) n.3227A>G c.134A>G c.609A>G (p.Thr203=) c.*298A>G (n.*298A>G) c.817A>G (n.817A>G) c.687A>G (p.Thr229=) c.276A>G (p.Thr92=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.162103953A>T | CA447609974 | GABRG2 | c.658A>T c.816A>T (p.Thr272=) n.587A>T c.779A>T c.411A>T (p.Thr137=) c.696A>T (p.Thr232=) n.758A>T c.573A>T c.87A>T (p.Thr29=) c.624A>T (p.Thr208=) c.107+35847A>T (n.107+35847A>T) c.630A>T (p.Thr210=) n.3227A>T c.134A>T c.609A>T (p.Thr203=) c.*298A>T (n.*298A>T) c.817A>T (n.817A>T) c.687A>T (p.Thr229=) c.276A>T (p.Thr92=) | |
| 5 | g.162103954del | CA1139659244 | GABRG2 | c.659del c.817del (p.Arg273AspfsTer13) n.588del c.780del c.412del (p.Arg138AspfsTer13) c.697del (p.Arg233AspfsTer13) n.759del c.574del c.88del (p.Arg30AspfsTer13) c.625del (p.Arg209AspfsTer13) c.107+35848del (n.107+35848del) c.631del (p.Arg211AspfsTer13) n.3228del c.135del c.610del (p.Arg204AspfsTer13) c.*299del (n.*299del) c.818del (n.818del) c.688del (p.Arg230AspfsTer13) c.277del (p.Arg93AspfsTer13) | ClinVar dbSNP |
| 5 | g.162103954A>C | CA447609975 | GABRG2 | c.659A>C c.817A>C (p.Arg273=) n.588A>C c.780A>C c.412A>C (p.Arg138=) c.697A>C (p.Arg233=) n.759A>C c.574A>C c.88A>C (p.Arg30=) c.625A>C (p.Arg209=) c.107+35848A>C (n.107+35848A>C) c.631A>C (p.Arg211=) n.3228A>C c.135A>C c.610A>C (p.Arg204=) c.*299A>C (n.*299A>C) c.818A>C (n.818A>C) c.688A>C (p.Arg230=) c.277A>C (p.Arg93=) | |
| 5 | g.162103954A>G | CA362185105 | GABRG2 | c.659A>G c.817A>G (p.Arg273Gly) n.588A>G c.780A>G c.412A>G (p.Arg138Gly) c.697A>G (p.Arg233Gly) n.759A>G c.574A>G c.88A>G (p.Arg30Gly) c.625A>G (p.Arg209Gly) c.107+35848A>G (n.107+35848A>G) c.631A>G (p.Arg211Gly) n.3228A>G c.135A>G c.610A>G (p.Arg204Gly) c.*299A>G (n.*299A>G) c.818A>G (n.818A>G) c.688A>G (p.Arg230Gly) c.277A>G (p.Arg93Gly) | |
| 5 | g.162103954A>T | CA362185106 | GABRG2 | c.659A>T c.817A>T (p.Arg273Ter) n.588A>T c.780A>T c.412A>T (p.Arg138Ter) c.697A>T (p.Arg233Ter) n.759A>T c.574A>T c.88A>T (p.Arg30Ter) c.625A>T (p.Arg209Ter) c.107+35848A>T (n.107+35848A>T) c.631A>T (p.Arg211Ter) n.3228A>T c.135A>T c.610A>T (p.Arg204Ter) c.*299A>T (n.*299A>T) c.818A>T (n.818A>T) c.688A>T (p.Arg230Ter) c.277A>T (p.Arg93Ter) | |
| 5 | g.162103955G>A | CA362185107 | GABRG2 | c.660G>A c.818G>A (p.Arg273Lys) n.589G>A c.781G>A c.413G>A (p.Arg138Lys) c.698G>A (p.Arg233Lys) n.760G>A c.575G>A c.89G>A (p.Arg30Lys) c.626G>A (p.Arg209Lys) c.107+35849G>A (n.107+35849G>A) c.632G>A (p.Arg211Lys) n.3229G>A c.136G>A c.611G>A (p.Arg204Lys) c.*300G>A (n.*300G>A) c.819G>A (n.819G>A) c.689G>A (p.Arg230Lys) c.278G>A (p.Arg93Lys) | dbSNP |
| 5 | g.162103955G>C | CA362185108 | GABRG2 | c.660G>C c.818G>C (p.Arg273Thr) n.589G>C c.781G>C c.413G>C (p.Arg138Thr) c.698G>C (p.Arg233Thr) n.760G>C c.575G>C c.89G>C (p.Arg30Thr) c.626G>C (p.Arg209Thr) c.107+35849G>C (n.107+35849G>C) c.632G>C (p.Arg211Thr) n.3229G>C c.136G>C c.611G>C (p.Arg204Thr) c.*300G>C (n.*300G>C) c.819G>C (n.819G>C) c.689G>C (p.Arg230Thr) c.278G>C (p.Arg93Thr) | |
| 5 | g.162103955G= | CA1596365220 | GABRG2 | c.660G= c.818G= (p.Arg273=) n.589G= c.781G= c.413G= (p.Arg138=) c.698G= (p.Arg233=) n.760G= c.575G= c.89G= (p.Arg30=) c.626G= (p.Arg209=) c.107+35849G= (n.107+35849G=) c.632G= (p.Arg211=) n.3229G= c.136G= c.611G= (p.Arg204=) c.*300G= (n.*300G=) c.819G= (n.819G=) c.689G= (p.Arg230=) c.278G= (p.Arg93=) | |
| 5 | g.162103955G>T | CA362185109 | GABRG2 | c.660G>T c.818G>T (p.Arg273Ile) n.589G>T c.781G>T c.413G>T (p.Arg138Ile) c.698G>T (p.Arg233Ile) n.760G>T c.575G>T c.89G>T (p.Arg30Ile) c.626G>T (p.Arg209Ile) c.107+35849G>T (n.107+35849G>T) c.632G>T (p.Arg211Ile) n.3229G>T c.136G>T c.611G>T (p.Arg204Ile) c.*300G>T (n.*300G>T) c.819G>T (n.819G>T) c.689G>T (p.Arg230Ile) c.278G>T (p.Arg93Ile) | COSMIC |
| 5 | g.162103956A>C | CA362185110 | GABRG2 | c.661A>C c.819A>C (p.Arg273Ser) n.590A>C c.782A>C c.414A>C (p.Arg138Ser) c.699A>C (p.Arg233Ser) n.761A>C c.576A>C c.90A>C (p.Arg30Ser) c.627A>C (p.Arg209Ser) c.107+35850A>C (n.107+35850A>C) c.633A>C (p.Arg211Ser) n.3230A>C c.137A>C c.612A>C (p.Arg204Ser) c.*301A>C (n.*301A>C) c.820A>C (n.820A>C) c.690A>C (p.Arg230Ser) c.279A>C (p.Arg93Ser) | |
| 5 | g.162103956A>G | CA447609977 | GABRG2 | c.661A>G c.819A>G (p.Arg273=) n.590A>G c.782A>G c.414A>G (p.Arg138=) c.699A>G (p.Arg233=) n.761A>G c.576A>G c.90A>G (p.Arg30=) c.627A>G (p.Arg209=) c.107+35850A>G (n.107+35850A>G) c.633A>G (p.Arg211=) n.3230A>G c.137A>G c.612A>G (p.Arg204=) c.*301A>G (n.*301A>G) c.820A>G (n.820A>G) c.690A>G (p.Arg230=) c.279A>G (p.Arg93=) | |
| 5 | g.162103956A>T | CA362185111 | GABRG2 | c.661A>T c.819A>T (p.Arg273Ser) n.590A>T c.782A>T c.414A>T (p.Arg138Ser) c.699A>T (p.Arg233Ser) n.761A>T c.576A>T c.90A>T (p.Arg30Ser) c.627A>T (p.Arg209Ser) c.107+35850A>T (n.107+35850A>T) c.633A>T (p.Arg211Ser) n.3230A>T c.137A>T c.612A>T (p.Arg204Ser) c.*301A>T (n.*301A>T) c.820A>T (n.820A>T) c.690A>T (p.Arg230Ser) c.279A>T (p.Arg93Ser) | gnomAD v4 COSMIC |
| 5 | g.162103957T>A | CA362185112 | GABRG2 | c.662T>A c.820T>A (p.Ser274Thr) n.591T>A c.783T>A c.415T>A (p.Ser139Thr) c.700T>A (p.Ser234Thr) n.762T>A c.577T>A c.91T>A (p.Ser31Thr) c.628T>A (p.Ser210Thr) c.107+35851T>A (n.107+35851T>A) c.634T>A (p.Ser212Thr) n.3231T>A c.138T>A c.613T>A (p.Ser205Thr) c.*302T>A (n.*302T>A) c.821T>A (n.821T>A) c.691T>A (p.Ser231Thr) c.280T>A (p.Ser94Thr) | |
| 5 | g.162103957T>C | CA362185114 | GABRG2 | c.662T>C c.820T>C (p.Ser274Pro) n.591T>C c.783T>C c.415T>C (p.Ser139Pro) c.700T>C (p.Ser234Pro) n.762T>C c.577T>C c.91T>C (p.Ser31Pro) c.628T>C (p.Ser210Pro) c.107+35851T>C (n.107+35851T>C) c.634T>C (p.Ser212Pro) n.3231T>C c.138T>C c.613T>C (p.Ser205Pro) c.*302T>C (n.*302T>C) c.821T>C (n.821T>C) c.691T>C (p.Ser231Pro) c.280T>C (p.Ser94Pro) | |
| 5 | g.162103957T>G | CA362185113 | GABRG2 | c.662T>G c.820T>G (p.Ser274Ala) n.591T>G c.783T>G c.415T>G (p.Ser139Ala) c.700T>G (p.Ser234Ala) n.762T>G c.577T>G c.91T>G (p.Ser31Ala) c.628T>G (p.Ser210Ala) c.107+35851T>G (n.107+35851T>G) c.634T>G (p.Ser212Ala) n.3231T>G c.138T>G c.613T>G (p.Ser205Ala) c.*302T>G (n.*302T>G) c.821T>G (n.821T>G) c.691T>G (p.Ser231Ala) c.280T>G (p.Ser94Ala) | |
| 5 | g.162103958C>A | CA362185115 | GABRG2 | c.663C>A c.821C>A (p.Ser274Tyr) n.592C>A c.784C>A c.416C>A (p.Ser139Tyr) c.701C>A (p.Ser234Tyr) n.763C>A c.578C>A c.92C>A (p.Ser31Tyr) c.629C>A (p.Ser210Tyr) c.107+35852C>A (n.107+35852C>A) c.635C>A (p.Ser212Tyr) n.3232C>A c.139C>A c.614C>A (p.Ser205Tyr) c.*303C>A (n.*303C>A) c.822C>A (n.822C>A) c.692C>A (p.Ser231Tyr) c.281C>A (p.Ser94Tyr) | COSMIC |
| 5 | g.162103958C>G | CA362185117 | GABRG2 | c.663C>G c.821C>G (p.Ser274Cys) n.592C>G c.784C>G c.416C>G (p.Ser139Cys) c.701C>G (p.Ser234Cys) n.763C>G c.578C>G c.92C>G (p.Ser31Cys) c.629C>G (p.Ser210Cys) c.107+35852C>G (n.107+35852C>G) c.635C>G (p.Ser212Cys) n.3232C>G c.139C>G c.614C>G (p.Ser205Cys) c.*303C>G (n.*303C>G) c.822C>G (n.822C>G) c.692C>G (p.Ser231Cys) c.281C>G (p.Ser94Cys) | |
| 5 | g.162103958C>T | CA362185116 | GABRG2 | c.663C>T c.821C>T (p.Ser274Phe) n.592C>T c.784C>T c.416C>T (p.Ser139Phe) c.701C>T (p.Ser234Phe) n.763C>T c.578C>T c.92C>T (p.Ser31Phe) c.629C>T (p.Ser210Phe) c.107+35852C>T (n.107+35852C>T) c.635C>T (p.Ser212Phe) n.3232C>T c.139C>T c.614C>T (p.Ser205Phe) c.*303C>T (n.*303C>T) c.822C>T (n.822C>T) c.692C>T (p.Ser231Phe) c.281C>T (p.Ser94Phe) | COSMIC |
| 5 | g.162103959C>A | CA447609980 | GABRG2 | c.664C>A c.822C>A (p.Ser274=) n.593C>A c.785C>A c.417C>A (p.Ser139=) c.702C>A (p.Ser234=) n.764C>A c.579C>A c.93C>A (p.Ser31=) c.630C>A (p.Ser210=) c.107+35853C>A (n.107+35853C>A) c.636C>A (p.Ser212=) n.3233C>A c.140C>A c.615C>A (p.Ser205=) c.*304C>A (n.*304C>A) c.823C>A (n.823C>A) c.693C>A (p.Ser231=) c.282C>A (p.Ser94=) | |
| 5 | g.162103959C= | CA1596365221 | GABRG2 | c.664C= c.822C= (p.Ser274=) n.593C= c.785C= c.417C= (p.Ser139=) c.702C= (p.Ser234=) n.764C= c.579C= c.93C= (p.Ser31=) c.630C= (p.Ser210=) c.107+35853C= (n.107+35853C=) c.636C= (p.Ser212=) n.3233C= c.140C= c.615C= (p.Ser205=) c.*304C= (n.*304C=) c.823C= (n.823C=) c.693C= (p.Ser231=) c.282C= (p.Ser94=) | |
| 5 | g.162103959C>G | CA447609981 | GABRG2 | c.664C>G c.822C>G (p.Ser274=) n.593C>G c.785C>G c.417C>G (p.Ser139=) c.702C>G (p.Ser234=) n.764C>G c.579C>G c.93C>G (p.Ser31=) c.630C>G (p.Ser210=) c.107+35853C>G (n.107+35853C>G) c.636C>G (p.Ser212=) n.3233C>G c.140C>G c.615C>G (p.Ser205=) c.*304C>G (n.*304C>G) c.823C>G (n.823C>G) c.693C>G (p.Ser231=) c.282C>G (p.Ser94=) | |
| 5 | g.162103959C>T | CA3544803 | GABRG2 | c.664C>T c.822C>T (p.Ser274=) n.593C>T c.785C>T c.417C>T (p.Ser139=) c.702C>T (p.Ser234=) n.764C>T c.579C>T c.93C>T (p.Ser31=) c.630C>T (p.Ser210=) c.107+35853C>T (n.107+35853C>T) c.636C>T (p.Ser212=) n.3233C>T c.140C>T c.615C>T (p.Ser205=) c.*304C>T (n.*304C>T) c.823C>T (n.823C>T) c.693C>T (p.Ser231=) c.282C>T (p.Ser94=) | dbSNP ExAC |
| 5 | g.162103960T>A | CA362185118 | GABRG2 | c.665T>A c.823T>A (p.Trp275Arg) n.594T>A c.786T>A c.418T>A (p.Trp140Arg) c.703T>A (p.Trp235Arg) n.765T>A c.580T>A c.94T>A (p.Trp32Arg) c.631T>A (p.Trp211Arg) c.107+35854T>A (n.107+35854T>A) c.637T>A (p.Trp213Arg) n.3234T>A c.141T>A c.616T>A (p.Trp206Arg) c.*305T>A (n.*305T>A) c.824T>A (n.824T>A) c.694T>A (p.Trp232Arg) c.283T>A (p.Trp95Arg) | |
| 5 | g.162103960T>C | CA362185119 | GABRG2 | c.665T>C c.823T>C (p.Trp275Arg) n.594T>C c.786T>C c.418T>C (p.Trp140Arg) c.703T>C (p.Trp235Arg) n.765T>C c.580T>C c.94T>C (p.Trp32Arg) c.631T>C (p.Trp211Arg) c.107+35854T>C (n.107+35854T>C) c.637T>C (p.Trp213Arg) n.3234T>C c.141T>C c.616T>C (p.Trp206Arg) c.*305T>C (n.*305T>C) c.824T>C (n.824T>C) c.694T>C (p.Trp232Arg) c.283T>C (p.Trp95Arg) | |
| 5 | g.162103960T>G | CA362185120 | GABRG2 | c.665T>G c.823T>G (p.Trp275Gly) n.594T>G c.786T>G c.418T>G (p.Trp140Gly) c.703T>G (p.Trp235Gly) n.765T>G c.580T>G c.94T>G (p.Trp32Gly) c.631T>G (p.Trp211Gly) c.107+35854T>G (n.107+35854T>G) c.637T>G (p.Trp213Gly) n.3234T>G c.141T>G c.616T>G (p.Trp206Gly) c.*305T>G (n.*305T>G) c.824T>G (n.824T>G) c.694T>G (p.Trp232Gly) c.283T>G (p.Trp95Gly) | |
| 5 | g.162103961G>A | CA362185121 | GABRG2 | c.666G>A c.824G>A (p.Trp275Ter) n.595G>A c.787G>A c.419G>A (p.Trp140Ter) c.704G>A (p.Trp235Ter) n.766G>A c.581G>A c.95G>A (p.Trp32Ter) c.632G>A (p.Trp211Ter) c.107+35855G>A (n.107+35855G>A) c.638G>A (p.Trp213Ter) n.3235G>A c.142G>A c.617G>A (p.Trp206Ter) c.*306G>A (n.*306G>A) c.825G>A (n.825G>A) c.695G>A (p.Trp232Ter) c.284G>A (p.Trp95Ter) | ClinVar dbSNP |
| 5 | g.162103961G>C | CA362185122 | GABRG2 | c.666G>C c.824G>C (p.Trp275Ser) n.595G>C c.787G>C c.419G>C (p.Trp140Ser) c.704G>C (p.Trp235Ser) n.766G>C c.581G>C c.95G>C (p.Trp32Ser) c.632G>C (p.Trp211Ser) c.107+35855G>C (n.107+35855G>C) c.638G>C (p.Trp213Ser) n.3235G>C c.142G>C c.617G>C (p.Trp206Ser) c.*306G>C (n.*306G>C) c.825G>C (n.825G>C) c.695G>C (p.Trp232Ser) c.284G>C (p.Trp95Ser) | |
| 5 | g.162103961G= | CA1596365222 | GABRG2 | c.666G= c.824G= (p.Trp275=) n.595G= c.787G= c.419G= (p.Trp140=) c.704G= (p.Trp235=) n.766G= c.581G= c.95G= (p.Trp32=) c.632G= (p.Trp211=) c.107+35855G= (n.107+35855G=) c.638G= (p.Trp213=) n.3235G= c.142G= c.617G= (p.Trp206=) c.*306G= (n.*306G=) c.825G= (n.825G=) c.695G= (p.Trp232=) c.284G= (p.Trp95=) | |
| 5 | g.162103961G>T | CA362185123 | GABRG2 | c.666G>T c.824G>T (p.Trp275Leu) n.595G>T c.787G>T c.419G>T (p.Trp140Leu) c.704G>T (p.Trp235Leu) n.766G>T c.581G>T c.95G>T (p.Trp32Leu) c.632G>T (p.Trp211Leu) c.107+35855G>T (n.107+35855G>T) c.638G>T (p.Trp213Leu) n.3235G>T c.142G>T c.617G>T (p.Trp206Leu) c.*306G>T (n.*306G>T) c.825G>T (n.825G>T) c.695G>T (p.Trp232Leu) c.284G>T (p.Trp95Leu) | |
| 5 | g.162103962G>A | CA131112331 | GABRG2 | c.667G>A c.825G>A (p.Trp275Ter) n.596G>A c.788G>A c.420G>A (p.Trp140Ter) c.705G>A (p.Trp235Ter) n.767G>A c.582G>A c.96G>A (p.Trp32Ter) c.633G>A (p.Trp211Ter) c.107+35856G>A (n.107+35856G>A) c.639G>A (p.Trp213Ter) n.3236G>A c.143G>A c.618G>A (p.Trp206Ter) c.*307G>A (n.*307G>A) c.826G>A (n.826G>A) c.696G>A (p.Trp232Ter) c.285G>A (p.Trp95Ter) | dbSNP |