Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
5 | g.161854181A>C | CA362181489 | GABRA1 | c.98A>C (p.Asp33Ala) n.873A>C c.160A>C (p.Met54Leu) c.143A>C (p.Asp48Ala) c.116A>C (p.Asp39Ala) c.161A>C (p.Asp54Ala) | |
5 | g.161854181A>G | CA362181487 | GABRA1 | c.98A>G (p.Asp33Gly) n.873A>G c.160A>G (p.Met54Val) c.143A>G (p.Asp48Gly) c.116A>G (p.Asp39Gly) c.161A>G (p.Asp54Gly) | gnomAD v4 |
5 | g.161854181A>T | CA362181488 | GABRA1 | c.98A>T (p.Asp33Val) n.873A>T c.160A>T (p.Met54Leu) c.143A>T (p.Asp48Val) c.116A>T (p.Asp39Val) c.161A>T (p.Asp54Val) | |
5 | g.161854182T>A | CA362181490 | GABRA1 | c.99T>A (p.Asp33Glu) n.874T>A c.161T>A (p.Met54Lys) c.144T>A (p.Asp48Glu) c.117T>A (p.Asp39Glu) c.162T>A (p.Asp54Glu) | |
5 | g.161854182T>C | CA447608789 | GABRA1 | c.99T>C (p.Asp33=) n.874T>C c.161T>C (p.Met54Thr) c.144T>C (p.Asp48=) c.117T>C (p.Asp39=) c.162T>C (p.Asp54=) | |
5 | g.161854182T>G | CA362181491 | GABRA1 | c.99T>G (p.Asp33Glu) n.874T>G c.161T>G (p.Met54Arg) c.144T>G (p.Asp48Glu) c.117T>G (p.Asp39Glu) c.162T>G (p.Asp54Glu) | |
5 | g.161854183G>A | CA362181492 | GABRA1 | c.100G>A (p.Glu34Lys) n.875G>A c.162G>A (p.Met54Ile) c.145G>A (p.Glu49Lys) c.118G>A (p.Glu40Lys) c.163G>A (p.Glu55Lys) | |
5 | g.161854183G>C | CA362181493 | GABRA1 | c.100G>C (p.Glu34Gln) n.875G>C c.162G>C (p.Met54Ile) c.145G>C (p.Glu49Gln) c.118G>C (p.Glu40Gln) c.163G>C (p.Glu55Gln) | |
5 | g.161854183G>T | CA362181494 | GABRA1 | c.100G>T (p.Glu34Ter) n.875G>T c.162G>T (p.Met54Ile) c.145G>T (p.Glu49Ter) c.118G>T (p.Glu40Ter) c.163G>T (p.Glu55Ter) | gnomAD v4 |
5 | g.161854184A>C | CA362181495 | GABRA1 | c.101A>C (p.Glu34Ala) n.876A>C c.163A>C (p.Asn55His) c.146A>C (p.Glu49Ala) c.119A>C (p.Glu40Ala) c.164A>C (p.Glu55Ala) | |
5 | g.161854184A>G | CA362181497 | GABRA1 | c.101A>G (p.Glu34Gly) n.876A>G c.163A>G (p.Asn55Asp) c.146A>G (p.Glu49Gly) c.119A>G (p.Glu40Gly) c.164A>G (p.Glu55Gly) | |
5 | g.161854184A>T | CA362181496 | GABRA1 | c.101A>T (p.Glu34Val) n.876A>T c.163A>T (p.Asn55Tyr) c.146A>T (p.Glu49Val) c.119A>T (p.Glu40Val) c.164A>T (p.Glu55Val) | |
5 | g.161854185A>C | CA362181498 | GABRA1 | c.102A>C (p.Glu34Asp) n.877A>C c.164A>C (p.Asn55Thr) c.147A>C (p.Glu49Asp) c.120A>C (p.Glu40Asp) c.165A>C (p.Glu55Asp) | |
5 | g.161854185A>G | CA447608790 | GABRA1 | c.102A>G (p.Glu34=) n.877A>G c.164A>G (p.Asn55Ser) c.147A>G (p.Glu49=) c.120A>G (p.Glu40=) c.165A>G (p.Glu55=) | |
5 | g.161854185A>T | CA362181499 | GABRA1 | c.102A>T (p.Glu34Asp) n.877A>T c.164A>T (p.Asn55Ile) c.147A>T (p.Glu49Asp) c.120A>T (p.Glu40Asp) c.165A>T (p.Glu55Asp) | |
5 | g.161854186C>A | CA362181500 | GABRA1 | c.103C>A (p.Leu35Ile) n.878C>A c.165C>A (p.Asn55Lys) c.148C>A (p.Leu50Ile) c.121C>A (p.Leu41Ile) c.166C>A (p.Leu56Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161854186C= | CA1596214927 | GABRA1 | c.103C= (p.Leu35=) n.878C= c.165C= (p.Asn55=) c.148C= (p.Leu50=) c.121C= (p.Leu41=) c.166C= (p.Leu56=) | |
5 | g.161854186C>G | CA362181501 | GABRA1 | c.103C>G (p.Leu35Val) n.878C>G c.165C>G (p.Asn55Lys) c.148C>G (p.Leu50Val) c.121C>G (p.Leu41Val) c.166C>G (p.Leu56Val) | gnomAD v4 |
5 | g.161854186C>T | CA362181502 | GABRA1 | c.103C>T (p.Leu35Phe) n.878C>T c.165C>T (p.Asn55=) c.148C>T (p.Leu50Phe) c.121C>T (p.Leu41Phe) c.166C>T (p.Leu56Phe) | |
5 | g.161854187T>A | CA362181503 | GABRA1 | c.104T>A (p.Leu35His) n.879T>A c.166T>A (p.Leu56Ile) c.149T>A (p.Leu50His) c.122T>A (p.Leu41His) c.167T>A (p.Leu56His) | |
5 | g.161854187T>C | CA362181504 | GABRA1 | c.104T>C (p.Leu35Pro) n.879T>C c.166T>C (p.Leu56=) c.149T>C (p.Leu50Pro) c.122T>C (p.Leu41Pro) c.167T>C (p.Leu56Pro) | COSMIC |
5 | g.161854187T>G | CA362181505 | GABRA1 | c.104T>G (p.Leu35Arg) n.879T>G c.166T>G (p.Leu56Val) c.149T>G (p.Leu50Arg) c.122T>G (p.Leu41Arg) c.167T>G (p.Leu56Arg) | |
5 | g.161854188T>A | CA447608791 | GABRA1 | c.105T>A (p.Leu35=) n.880T>A c.167T>A (p.Leu56Ter) c.150T>A (p.Leu50=) c.123T>A (p.Leu41=) c.168T>A (p.Leu56=) | |
5 | g.161854188T>C | CA447608792 | GABRA1 | c.105T>C (p.Leu35=) n.880T>C c.167T>C (p.Leu56Ser) c.150T>C (p.Leu50=) c.123T>C (p.Leu41=) c.168T>C (p.Leu56=) | |
5 | g.161854188T>G | CA447608793 | GABRA1 | c.105T>G (p.Leu35=) n.880T>G c.167T>G (p.Leu56Ter) c.150T>G (p.Leu50=) c.123T>G (p.Leu41=) c.168T>G (p.Leu56=) | |
5 | g.161854189A>C | CA362181506 | GABRA1 | c.106A>C (p.Lys36Gln) n.881A>C c.168A>C (p.Leu56Phe) c.151A>C (p.Lys51Gln) c.124A>C (p.Lys42Gln) c.169A>C (p.Lys57Gln) | |
5 | g.161854189A>G | CA362181507 | GABRA1 | c.106A>G (p.Lys36Glu) n.881A>G c.168A>G (p.Leu56=) c.151A>G (p.Lys51Glu) c.124A>G (p.Lys42Glu) c.169A>G (p.Lys57Glu) | |
5 | g.161854189A>T | CA362181508 | GABRA1 | c.106A>T (p.Lys36Ter) n.881A>T c.168A>T (p.Leu56Phe) c.151A>T (p.Lys51Ter) c.124A>T (p.Lys42Ter) c.169A>T (p.Lys57Ter) | |
5 | g.161854190A>C | CA362181511 | GABRA1 | c.107A>C (p.Lys36Thr) n.882A>C c.169A>C (p.Lys57Gln) c.152A>C (p.Lys51Thr) c.125A>C (p.Lys42Thr) c.170A>C (p.Lys57Thr) | |
5 | g.161854190A>G | CA362181509 | GABRA1 | c.107A>G (p.Lys36Arg) n.882A>G c.169A>G (p.Lys57Glu) c.152A>G (p.Lys51Arg) c.125A>G (p.Lys42Arg) c.170A>G (p.Lys57Arg) | |
5 | g.161854190A>T | CA362181510 | GABRA1 | c.107A>T (p.Lys36Ile) n.882A>T c.169A>T (p.Lys57Ter) c.152A>T (p.Lys51Ile) c.125A>T (p.Lys42Ile) c.170A>T (p.Lys57Ile) | |
5 | g.161854191A>C | CA362181512 | GABRA1 | c.108A>C (p.Lys36Asn) n.883A>C c.170A>C (p.Lys57Thr) c.153A>C (p.Lys51Asn) c.126A>C (p.Lys42Asn) c.171A>C (p.Lys57Asn) | |
5 | g.161854191A>G | CA447608794 | GABRA1 | c.108A>G (p.Lys36=) n.883A>G c.170A>G (p.Lys57Arg) c.153A>G (p.Lys51=) c.126A>G (p.Lys42=) c.171A>G (p.Lys57=) | |
5 | g.161854191A>T | CA362181513 | GABRA1 | c.108A>T (p.Lys36Asn) n.883A>T c.170A>T (p.Lys57Met) c.153A>T (p.Lys51Asn) c.126A>T (p.Lys42Asn) c.171A>T (p.Lys57Asn) | |
5 | g.161854192G>A | CA362181514 | GABRA1 | c.109G>A (p.Asp37Asn) n.884G>A c.171G>A (p.Lys57=) c.154G>A (p.Asp52Asn) c.127G>A (p.Asp43Asn) c.172G>A (p.Asp58Asn) | |
5 | g.161854192G>C | CA362181515 | GABRA1 | c.109G>C (p.Asp37His) n.884G>C c.171G>C (p.Lys57Asn) c.154G>C (p.Asp52His) c.127G>C (p.Asp43His) c.172G>C (p.Asp58His) | |
5 | g.161854192G>T | CA362181516 | GABRA1 | c.109G>T (p.Asp37Tyr) n.884G>T c.171G>T (p.Lys57Asn) c.154G>T (p.Asp52Tyr) c.127G>T (p.Asp43Tyr) c.172G>T (p.Asp58Tyr) | |
5 | g.161854193A>C | CA362181517 | GABRA1 | c.110A>C (p.Asp37Ala) n.885A>C c.172A>C (p.Thr58Pro) c.155A>C (p.Asp52Ala) c.128A>C (p.Asp43Ala) c.173A>C (p.Asp58Ala) | |
5 | g.161854193A>G | CA362181518 | GABRA1 | c.110A>G (p.Asp37Gly) n.885A>G c.172A>G (p.Thr58Ala) c.155A>G (p.Asp52Gly) c.128A>G (p.Asp43Gly) c.173A>G (p.Asp58Gly) | |
5 | g.161854193A>T | CA362181519 | GABRA1 | c.110A>T (p.Asp37Val) n.885A>T c.172A>T (p.Thr58Ser) c.155A>T (p.Asp52Val) c.128A>T (p.Asp43Val) c.173A>T (p.Asp58Val) | |
5 | g.161854194C>A | CA362181520 | GABRA1 | c.111C>A (p.Asp37Glu) n.886C>A c.173C>A (p.Thr58Lys) c.156C>A (p.Asp52Glu) c.129C>A (p.Asp43Glu) c.174C>A (p.Asp58Glu) | gnomAD v4 |
5 | g.161854194C= | CA1596214932 | GABRA1 | c.111C= (p.Asp37=) n.886C= c.173C= (p.Thr58=) c.156C= (p.Asp52=) c.129C= (p.Asp43=) c.174C= (p.Asp58=) | |
5 | g.161854194C>G | CA362181521 | GABRA1 | c.111C>G (p.Asp37Glu) n.886C>G c.173C>G (p.Thr58Arg) c.156C>G (p.Asp52Glu) c.129C>G (p.Asp43Glu) c.174C>G (p.Asp58Glu) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161854194C>T | CA447608795 | GABRA1 | c.111C>T (p.Asp37=) n.886C>T c.173C>T (p.Thr58Ile) c.156C>T (p.Asp52=) c.129C>T (p.Asp43=) c.174C>T (p.Asp58=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161854195A= | CA1596214935 | GABRA1 | c.112A= (p.Asn38=) n.887A= c.174A= (p.Thr58=) c.157A= (p.Asn53=) c.130A= (p.Asn44=) c.175A= (p.Asn59=) | |
5 | g.161854195A>C | CA362181522 | GABRA1 | c.112A>C (p.Asn38His) n.887A>C c.174A>C (p.Thr58=) c.157A>C (p.Asn53His) c.130A>C (p.Asn44His) c.175A>C (p.Asn59His) | |
5 | g.161854195A>G | CA362181523 | GABRA1 | c.112A>G (p.Asn38Asp) n.887A>G c.174A>G (p.Thr58=) c.157A>G (p.Asn53Asp) c.130A>G (p.Asn44Asp) c.175A>G (p.Asn59Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161854195A>T | CA362181524 | GABRA1 | c.112A>T (p.Asn38Tyr) n.887A>T c.174A>T (p.Thr58=) c.157A>T (p.Asn53Tyr) c.130A>T (p.Asn44Tyr) c.175A>T (p.Asn59Tyr) | COSMIC |
5 | g.161854196A>C | CA362181525 | GABRA1 | c.113A>C (p.Asn38Thr) n.888A>C c.175A>C (p.Ile59Leu) c.158A>C (p.Asn53Thr) c.131A>C (p.Asn44Thr) c.176A>C (p.Asn59Thr) | |
5 | g.161854196A>G | CA362181526 | GABRA1 | c.113A>G (p.Asn38Ser) n.888A>G c.175A>G (p.Ile59Val) c.158A>G (p.Asn53Ser) c.131A>G (p.Asn44Ser) c.176A>G (p.Asn59Ser) | |
5 | g.161854196A>T | CA362181527 | GABRA1 | c.113A>T (p.Asn38Ile) n.888A>T c.175A>T (p.Ile59Leu) c.158A>T (p.Asn53Ile) c.131A>T (p.Asn44Ile) c.176A>T (p.Asn59Ile) | |
5 | g.161854197T>A | CA362181528 | GABRA1 | c.114T>A (p.Asn38Lys) n.889T>A c.176T>A (p.Ile59Lys) c.159T>A (p.Asn53Lys) c.132T>A (p.Asn44Lys) c.177T>A (p.Asn59Lys) | |
5 | g.161854197T>C | CA131082510 | GABRA1 | c.114T>C (p.Asn38=) n.889T>C c.176T>C (p.Ile59Thr) c.159T>C (p.Asn53=) c.132T>C (p.Asn44=) c.177T>C (p.Asn59=) | dbSNP gnomAD v4 |
5 | g.161854197T>G | CA362181529 | GABRA1 | c.114T>G (p.Asn38Lys) n.889T>G c.176T>G (p.Ile59Arg) c.159T>G (p.Asn53Lys) c.132T>G (p.Asn44Lys) c.177T>G (p.Asn59Lys) | |
5 | g.161854197T= | CA1596214937 | GABRA1 | c.114T= (p.Asn38=) n.889T= c.176T= (p.Ile59=) c.159T= (p.Asn53=) c.132T= (p.Asn44=) c.177T= (p.Asn59=) | |
5 | g.161854198A>C | CA362181530 | GABRA1 | c.115A>C (p.Thr39Pro) n.890A>C c.177A>C (p.Ile59=) c.160A>C (p.Thr54Pro) c.133A>C (p.Thr45Pro) c.178A>C (p.Thr60Pro) | |
5 | g.161854198A>G | CA362181531 | GABRA1 | c.115A>G (p.Thr39Ala) n.890A>G c.177A>G (p.Ile59Met) c.160A>G (p.Thr54Ala) c.133A>G (p.Thr45Ala) c.178A>G (p.Thr60Ala) | |
5 | g.161854198A>T | CA362181532 | GABRA1 | c.115A>T (p.Thr39Ser) n.890A>T c.177A>T (p.Ile59=) c.160A>T (p.Thr54Ser) c.133A>T (p.Thr45Ser) c.178A>T (p.Thr60Ser) | |
5 | g.161854198_161854202del | CA2831412823 | GABRA1 | c.115_119del (p.Thr39CysfsTer14) n.890_894del c.177_181del (p.Pro60ValfsTer?) c.160_164del (p.Thr54CysfsTer14) c.133_137del (p.Thr45CysfsTer14) c.178_182del (p.Thr60CysfsTer14) | |
5 | g.161854199C>A | CA362181533 | GABRA1 | c.116C>A (p.Thr39Asn) n.891C>A c.178C>A (p.Pro60Thr) c.161C>A (p.Thr54Asn) c.134C>A (p.Thr45Asn) c.179C>A (p.Thr60Asn) | |
5 | g.161854199C>G | CA362181534 | GABRA1 | c.116C>G (p.Thr39Ser) n.891C>G c.178C>G (p.Pro60Ala) c.161C>G (p.Thr54Ser) c.134C>G (p.Thr45Ser) c.179C>G (p.Thr60Ser) | |
5 | g.161854199C>T | CA362181535 | GABRA1 | c.116C>T (p.Thr39Ile) n.891C>T c.178C>T (p.Pro60Ser) c.161C>T (p.Thr54Ile) c.134C>T (p.Thr45Ile) c.179C>T (p.Thr60Ile) | |
5 | g.161854200C>A | CA447608796 | GABRA1 | c.117C>A (p.Thr39=) n.892C>A c.179C>A (p.Pro60Gln) c.162C>A (p.Thr54=) c.135C>A (p.Thr45=) c.180C>A (p.Thr60=) | |
5 | g.161854200C= | CA1596214939 | GABRA1 | c.117C= (p.Thr39=) n.892C= c.179C= (p.Pro60=) c.162C= (p.Thr54=) c.135C= (p.Thr45=) c.180C= (p.Thr60=) | |
5 | g.161854200C>G | CA447608797 | GABRA1 | c.117C>G (p.Thr39=) n.892C>G c.179C>G (p.Pro60Arg) c.162C>G (p.Thr54=) c.135C>G (p.Thr45=) c.180C>G (p.Thr60=) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161854200C>T | CA447608798 | GABRA1 | c.117C>T (p.Thr39=) n.892C>T c.179C>T (p.Pro60Leu) c.162C>T (p.Thr54=) c.135C>T (p.Thr45=) c.180C>T (p.Thr60=) | |
5 | g.161854201A>C | CA362181536 | GABRA1 | c.118A>C (p.Thr40Pro) n.893A>C c.180A>C (p.Pro60=) c.163A>C (p.Thr55Pro) c.136A>C (p.Thr46Pro) c.181A>C (p.Thr61Pro) | |
5 | g.161854201A>G | CA362181537 | GABRA1 | c.118A>G (p.Thr40Ala) n.893A>G c.180A>G (p.Pro60=) c.163A>G (p.Thr55Ala) c.136A>G (p.Thr46Ala) c.181A>G (p.Thr61Ala) | |
5 | g.161854201A>T | CA362181538 | GABRA1 | c.118A>T (p.Thr40Ser) n.893A>T c.180A>T (p.Pro60=) c.163A>T (p.Thr55Ser) c.136A>T (p.Thr46Ser) c.181A>T (p.Thr61Ser) | |
5 | g.161854202C>A | CA362181539 | GABRA1 | c.119C>A (p.Thr40Asn) n.894C>A c.181C>A (p.Leu61Met) c.164C>A (p.Thr55Asn) c.137C>A (p.Thr46Asn) c.182C>A (p.Thr61Asn) | gnomAD v4 |
5 | g.161854202C= | CA1596214942 | GABRA1 | c.119C= (p.Thr40=) n.894C= c.181C= (p.Leu61=) c.164C= (p.Thr55=) c.137C= (p.Thr46=) c.182C= (p.Thr61=) | |
5 | g.161854202C>G | CA362181540 | GABRA1 | c.119C>G (p.Thr40Ser) n.894C>G c.181C>G (p.Leu61Val) c.164C>G (p.Thr55Ser) c.137C>G (p.Thr46Ser) c.182C>G (p.Thr61Ser) | |
5 | g.161854202C>T | CA362181541 | GABRA1 | c.119C>T (p.Thr40Ile) n.894C>T c.181C>T (p.Leu61=) c.164C>T (p.Thr55Ile) c.137C>T (p.Thr46Ile) c.182C>T (p.Thr61Ile) | dbSNP gnomAD v2 gnomAD v4 |
5 | g.161854203T>A | CA447608799 | GABRA1 | c.120T>A (p.Thr40=) n.895T>A c.182T>A (p.Leu61Gln) c.165T>A (p.Thr55=) c.138T>A (p.Thr46=) c.183T>A (p.Thr61=) | |
5 | g.161854203T>C | CA447608800 | GABRA1 | c.120T>C (p.Thr40=) n.895T>C c.182T>C (p.Leu61Pro) c.165T>C (p.Thr55=) c.138T>C (p.Thr46=) c.183T>C (p.Thr61=) | gnomAD v4 |
5 | g.161854203T>G | CA447608801 | GABRA1 | c.120T>G (p.Thr40=) n.895T>G c.182T>G (p.Leu61Arg) c.165T>G (p.Thr55=) c.138T>G (p.Thr46=) c.183T>G (p.Thr61=) | |
5 | g.161854204G>A | CA362181542 | GABRA1 | c.121G>A (p.Val41Ile) n.896G>A c.183G>A (p.Leu61=) c.166G>A (p.Val56Ile) c.139G>A (p.Val47Ile) c.184G>A (p.Val62Ile) | COSMIC |
5 | g.161854204G>C | CA362181544 | GABRA1 | c.121G>C (p.Val41Leu) n.896G>C c.183G>C (p.Leu61=) c.166G>C (p.Val56Leu) c.139G>C (p.Val47Leu) c.184G>C (p.Val62Leu) | |
5 | g.161854204G>T | CA362181543 | GABRA1 | c.121G>T (p.Val41Phe) n.896G>T c.183G>T (p.Leu61=) c.166G>T (p.Val56Phe) c.139G>T (p.Val47Phe) c.184G>T (p.Val62Phe) | |
5 | g.161854205T>A | CA362181545 | GABRA1 | c.122T>A (p.Val41Asp) n.897T>A c.184T>A (p.Ser62Thr) c.167T>A (p.Val56Asp) c.140T>A (p.Val47Asp) c.185T>A (p.Val62Asp) | |
5 | g.161854205T>C | CA362181546 | GABRA1 | c.122T>C (p.Val41Ala) n.897T>C c.184T>C (p.Ser62Pro) c.167T>C (p.Val56Ala) c.140T>C (p.Val47Ala) c.185T>C (p.Val62Ala) | |
5 | g.161854205T>G | CA362181547 | GABRA1 | c.122T>G (p.Val41Gly) n.897T>G c.184T>G (p.Ser62Ala) c.167T>G (p.Val56Gly) c.140T>G (p.Val47Gly) c.185T>G (p.Val62Gly) | |
5 | g.161854206C>A | CA447608802 | GABRA1 | c.123C>A (p.Val41=) n.898C>A c.185C>A (p.Ser62Tyr) c.168C>A (p.Val56=) c.141C>A (p.Val47=) c.186C>A (p.Val62=) | gnomAD v4 |
5 | g.161854206C>G | CA447608803 | GABRA1 | c.123C>G (p.Val41=) n.898C>G c.185C>G (p.Ser62Cys) c.168C>G (p.Val56=) c.141C>G (p.Val47=) c.186C>G (p.Val62=) | |
5 | g.161854206C>T | CA447608804 | GABRA1 | c.123C>T (p.Val41=) n.898C>T c.185C>T (p.Ser62Phe) c.168C>T (p.Val56=) c.141C>T (p.Val47=) c.186C>T (p.Val62=) | |
5 | g.161854207T>A | CA362181548 | GABRA1 | c.124T>A (p.Phe42Ile) n.899T>A c.186T>A (p.Ser62=) c.169T>A (p.Phe57Ile) c.142T>A (p.Phe48Ile) c.187T>A (p.Phe63Ile) | |
5 | g.161854207T>C | CA362181549 | GABRA1 | c.124T>C (p.Phe42Leu) n.899T>C c.186T>C (p.Ser62=) c.169T>C (p.Phe57Leu) c.142T>C (p.Phe48Leu) c.187T>C (p.Phe63Leu) | ClinVar dbSNP |
5 | g.161854207T>G | CA362181550 | GABRA1 | c.124T>G (p.Phe42Val) n.899T>G c.186T>G (p.Ser62=) c.169T>G (p.Phe57Val) c.142T>G (p.Phe48Val) c.187T>G (p.Phe63Val) | |
5 | g.161854208T>A | CA362181553 | GABRA1 | c.125T>A (p.Phe42Tyr) n.900T>A c.187T>A (p.Ser63Thr) c.170T>A (p.Phe57Tyr) c.143T>A (p.Phe48Tyr) c.188T>A (p.Phe63Tyr) | |
5 | g.161854208T>C | CA362181551 | GABRA1 | c.125T>C (p.Phe42Ser) n.900T>C c.187T>C (p.Ser63Pro) c.170T>C (p.Phe57Ser) c.143T>C (p.Phe48Ser) c.188T>C (p.Phe63Ser) | |
5 | g.161854208T>G | CA362181552 | GABRA1 | c.125T>G (p.Phe42Cys) n.900T>G c.187T>G (p.Ser63Ala) c.170T>G (p.Phe57Cys) c.143T>G (p.Phe48Cys) c.188T>G (p.Phe63Cys) | |
5 | g.161854209C>A | CA362181554 | GABRA1 | c.126C>A (p.Phe42Leu) n.901C>A c.188C>A (p.Ser63Ter) c.171C>A (p.Phe57Leu) c.144C>A (p.Phe48Leu) c.189C>A (p.Phe63Leu) | |
5 | g.161854209C>G | CA362181555 | GABRA1 | c.126C>G (p.Phe42Leu) n.901C>G c.188C>G (p.Ser63Ter) c.171C>G (p.Phe57Leu) c.144C>G (p.Phe48Leu) c.189C>G (p.Phe63Leu) | |
5 | g.161854209C>T | CA447608805 | GABRA1 | c.126C>T (p.Phe42=) n.901C>T c.188C>T (p.Ser63Leu) c.171C>T (p.Phe57=) c.144C>T (p.Phe48=) c.189C>T (p.Phe63=) | COSMIC |
5 | g.161854210A>C | CA362181556 | GABRA1 | c.127A>C (p.Thr43Pro) n.902A>C c.189A>C (p.Ser63=) c.172A>C (p.Thr58Pro) c.145A>C (p.Thr49Pro) c.190A>C (p.Thr64Pro) | |
5 | g.161854210A>G | CA362181557 | GABRA1 | c.127A>G (p.Thr43Ala) n.902A>G c.189A>G (p.Ser63=) c.172A>G (p.Thr58Ala) c.145A>G (p.Thr49Ala) c.190A>G (p.Thr64Ala) | |
5 | g.161854210A>T | CA362181558 | GABRA1 | c.127A>T (p.Thr43Ser) n.902A>T c.189A>T (p.Ser63=) c.172A>T (p.Thr58Ser) c.145A>T (p.Thr49Ser) c.190A>T (p.Thr64Ser) | |
5 | g.161854211C>A | CA362181559 | GABRA1 | c.128C>A (p.Thr43Asn) n.903C>A c.190C>A (p.Pro64Thr) c.173C>A (p.Thr58Asn) c.146C>A (p.Thr49Asn) c.191C>A (p.Thr64Asn) | dbSNP |
5 | g.161854211C= | CA1596214944 | GABRA1 | c.128C= (p.Thr43=) n.903C= c.190C= (p.Pro64=) c.173C= (p.Thr58=) c.146C= (p.Thr49=) c.191C= (p.Thr64=) | |
5 | g.161854211C>G | CA362181561 | GABRA1 | c.128C>G (p.Thr43Ser) n.903C>G c.190C>G (p.Pro64Ala) c.173C>G (p.Thr58Ser) c.146C>G (p.Thr49Ser) c.191C>G (p.Thr64Ser) | |
5 | g.161854211C>T | CA362181560 | GABRA1 | c.128C>T (p.Thr43Ile) n.903C>T c.190C>T (p.Pro64Ser) c.173C>T (p.Thr58Ile) c.146C>T (p.Thr49Ile) c.191C>T (p.Thr64Ile) | COSMIC |
5 | g.161854211_161854212del | CA2831412824 | GABRA1 | c.128_129del (p.Thr43LysfsTer11) n.903_904del c.190_191del (p.Pro64ArgfsTer?) c.173_174del (p.Thr58LysfsTer11) c.146_147del (p.Thr49LysfsTer11) c.191_192del (p.Thr64LysfsTer11) | |
5 | g.161854212del | CA2676321531 | GABRA1 | c.129del (p.Arg44GlyfsTer7) n.904del c.191del (p.Pro64GlnfsTer11) c.174del (p.Arg59GlyfsTer7) c.147del (p.Arg50GlyfsTer7) c.192del (p.Arg65GlyfsTer7) | gnomAD v4 |
5 | g.161854212C>A | CA447608806 | GABRA1 | c.129C>A (p.Thr43=) n.904C>A c.191C>A (p.Pro64Gln) c.174C>A (p.Thr58=) c.147C>A (p.Thr49=) c.192C>A (p.Thr64=) | |
5 | g.161854212C>G | CA447608807 | GABRA1 | c.129C>G (p.Thr43=) n.904C>G c.191C>G (p.Pro64Arg) c.174C>G (p.Thr58=) c.147C>G (p.Thr49=) c.192C>G (p.Thr64=) | |
5 | g.161854212C>T | CA447608808 | GABRA1 | c.129C>T (p.Thr43=) n.904C>T c.191C>T (p.Pro64Leu) c.174C>T (p.Thr58=) c.147C>T (p.Thr49=) c.192C>T (p.Thr64=) | gnomAD v4 |
5 | g.161854213A>C | CA447608809 | GABRA1 | c.130A>C (p.Arg44=) n.905A>C c.192A>C (p.Pro64=) c.175A>C (p.Arg59=) c.148A>C (p.Arg50=) c.193A>C (p.Arg65=) | |
5 | g.161854213A>G | CA362181562 | GABRA1 | c.130A>G (p.Arg44Gly) n.905A>G c.192A>G (p.Pro64=) c.175A>G (p.Arg59Gly) c.148A>G (p.Arg50Gly) c.193A>G (p.Arg65Gly) | |
5 | g.161854213A>T | CA362181563 | GABRA1 | c.130A>T (p.Arg44Trp) n.905A>T c.192A>T (p.Pro64=) c.175A>T (p.Arg59Trp) c.148A>T (p.Arg50Trp) c.193A>T (p.Arg65Trp) | |
5 | g.161854214G>A | CA362181564 | GABRA1 | c.131G>A (p.Arg44Lys) n.906G>A c.193G>A (p.Gly65Arg) c.176G>A (p.Arg59Lys) c.149G>A (p.Arg50Lys) c.194G>A (p.Arg65Lys) | |
5 | g.161854214G>C | CA362181565 | GABRA1 | c.131G>C (p.Arg44Thr) n.906G>C c.193G>C (p.Gly65Arg) c.176G>C (p.Arg59Thr) c.149G>C (p.Arg50Thr) c.194G>C (p.Arg65Thr) | |
5 | g.161854214G>T | CA362181566 | GABRA1 | c.131G>T (p.Arg44Met) n.906G>T c.193G>T (p.Gly65Ter) c.176G>T (p.Arg59Met) c.149G>T (p.Arg50Met) c.194G>T (p.Arg65Met) | |
5 | g.161854215G>A | CA447608810 | GABRA1 | c.132G>A (p.Arg44=) n.907G>A c.194G>A (p.Gly65Glu) c.177G>A (p.Arg59=) c.150G>A (p.Arg50=) c.195G>A (p.Arg65=) | |
5 | g.161854215G>C | CA362181567 | GABRA1 | c.132G>C (p.Arg44Ser) n.907G>C c.194G>C (p.Gly65Ala) c.177G>C (p.Arg59Ser) c.150G>C (p.Arg50Ser) c.195G>C (p.Arg65Ser) | |
5 | g.161854215G>T | CA362181568 | GABRA1 | c.132G>T (p.Arg44Ser) n.907G>T c.194G>T (p.Gly65Val) c.177G>T (p.Arg59Ser) c.150G>T (p.Arg50Ser) c.195G>T (p.Arg65Ser) | dbSNP |
5 | g.161854215_161854216del | CA2831412825 | GABRA1 | c.132_133del (p.Arg44SerfsTer10) n.907_908del c.194_195del (p.Gly65ValfsTer?) c.177_178del (p.Arg59SerfsTer10) c.150_151del (p.Arg50SerfsTer10) c.195_196del (p.Arg65SerfsTer10) | |
5 | g.161854216A>C | CA362181569 | GABRA1 | c.133A>C (p.Ile45Leu) n.908A>C c.195A>C (p.Gly65=) c.178A>C (p.Ile60Leu) c.151A>C (p.Ile51Leu) c.196A>C (p.Ile66Leu) | |
5 | g.161854216A>G | CA362181570 | GABRA1 | c.133A>G (p.Ile45Val) n.908A>G c.195A>G (p.Gly65=) c.178A>G (p.Ile60Val) c.151A>G (p.Ile51Val) c.196A>G (p.Ile66Val) | |
5 | g.161854216A>T | CA362181571 | GABRA1 | c.133A>T (p.Ile45Phe) n.908A>T c.195A>T (p.Gly65=) c.178A>T (p.Ile60Phe) c.151A>T (p.Ile51Phe) c.196A>T (p.Ile66Phe) | |
5 | g.161854217T>A | CA362181572 | GABRA1 | c.134T>A (p.Ile45Asn) n.909T>A c.196T>A (p.Phe66Ile) c.179T>A (p.Ile60Asn) c.152T>A (p.Ile51Asn) c.197T>A (p.Ile66Asn) | |
5 | g.161854217T>C | CA362181574 | GABRA1 | c.134T>C (p.Ile45Thr) n.909T>C c.196T>C (p.Phe66Leu) c.179T>C (p.Ile60Thr) c.152T>C (p.Ile51Thr) c.197T>C (p.Ile66Thr) | ClinVar |
5 | g.161854217T>G | CA362181573 | GABRA1 | c.134T>G (p.Ile45Ser) n.909T>G c.196T>G (p.Phe66Val) c.179T>G (p.Ile60Ser) c.152T>G (p.Ile51Ser) c.197T>G (p.Ile66Ser) | |
5 | g.161854220del | CA2676321536 | GABRA1 | c.137del (p.Leu46TrpfsTer5) n.912del c.199del (p.Trp67GlyfsTer8) c.182del (p.Leu61TrpfsTer5) c.155del (p.Leu52TrpfsTer5) c.200del (p.Leu67TrpfsTer5) | gnomAD v4 |
5 | g.161854218T>A | CA447608811 | GABRA1 | c.135T>A (p.Ile45=) n.910T>A c.197T>A (p.Phe66Tyr) c.180T>A (p.Ile60=) c.153T>A (p.Ile51=) c.198T>A (p.Ile66=) | |
5 | g.161854218T>C | CA447608812 | GABRA1 | c.135T>C (p.Ile45=) n.910T>C c.197T>C (p.Phe66Ser) c.180T>C (p.Ile60=) c.153T>C (p.Ile51=) c.198T>C (p.Ile66=) | |
5 | g.161854218T>G | CA362181575 | GABRA1 | c.135T>G (p.Ile45Met) n.910T>G c.197T>G (p.Phe66Cys) c.180T>G (p.Ile60Met) c.153T>G (p.Ile51Met) c.198T>G (p.Ile66Met) | |
5 | g.161854219T>A | CA362181577 | GABRA1 | c.136T>A (p.Leu46Met) n.911T>A c.198T>A (p.Phe66Leu) c.181T>A (p.Leu61Met) c.154T>A (p.Leu52Met) c.199T>A (p.Leu67Met) | |
5 | g.161854219T>C | CA447608813 | GABRA1 | c.136T>C (p.Leu46=) n.911T>C c.198T>C (p.Phe66=) c.181T>C (p.Leu61=) c.154T>C (p.Leu52=) c.199T>C (p.Leu67=) | |
5 | g.161854219T>G | CA362181576 | GABRA1 | c.136T>G (p.Leu46Val) n.911T>G c.198T>G (p.Phe66Leu) c.181T>G (p.Leu61Val) c.154T>G (p.Leu52Val) c.199T>G (p.Leu67Val) | |
5 | g.161854219_161854223del | CA2831412826 | GABRA1 | c.136_140del (p.Leu46GlnfsTer7) n.911_915del c.198_202del (p.Trp67ArgfsTer?) c.181_185del (p.Leu61GlnfsTer7) c.154_158del (p.Leu52GlnfsTer7) c.199_203del (p.Leu67GlnfsTer7) | |
5 | g.161854220T>A | CA362181580 | GABRA1 | c.137T>A (p.Leu46Ter) n.912T>A c.199T>A (p.Trp67Arg) c.182T>A (p.Leu61Ter) c.155T>A (p.Leu52Ter) c.200T>A (p.Leu67Ter) | |
5 | g.161854220T>C | CA362181578 | GABRA1 | c.137T>C (p.Leu46Ser) n.912T>C c.199T>C (p.Trp67Arg) c.182T>C (p.Leu61Ser) c.155T>C (p.Leu52Ser) c.200T>C (p.Leu67Ser) | |
5 | g.161854220T>G | CA362181579 | GABRA1 | c.137T>G (p.Leu46Trp) n.912T>G c.199T>G (p.Trp67Gly) c.182T>G (p.Leu61Trp) c.155T>G (p.Leu52Trp) c.200T>G (p.Leu67Trp) | |
5 | g.161854221G>A | CA447608814 | GABRA1 | c.138G>A (p.Leu46=) n.913G>A c.200G>A (p.Trp67Ter) c.183G>A (p.Leu61=) c.156G>A (p.Leu52=) c.201G>A (p.Leu67=) | COSMIC |
5 | g.161854221G>C | CA362181581 | GABRA1 | c.138G>C (p.Leu46Phe) n.913G>C c.200G>C (p.Trp67Ser) c.183G>C (p.Leu61Phe) c.156G>C (p.Leu52Phe) c.201G>C (p.Leu67Phe) | |
5 | g.161854221G>T | CA362181582 | GABRA1 | c.138G>T (p.Leu46Phe) n.913G>T c.200G>T (p.Trp67Leu) c.183G>T (p.Leu61Phe) c.156G>T (p.Leu52Phe) c.201G>T (p.Leu67Phe) | ClinVar |
5 | g.161854222G>A | CA362181583 | GABRA1 | c.139G>A (p.Asp47Asn) n.914G>A c.201G>A (p.Trp67Ter) c.184G>A (p.Asp62Asn) c.157G>A (p.Asp53Asn) c.202G>A (p.Asp68Asn) | |
5 | g.161854222G>C | CA362181584 | GABRA1 | c.139G>C (p.Asp47His) n.914G>C c.201G>C (p.Trp67Cys) c.184G>C (p.Asp62His) c.157G>C (p.Asp53His) c.202G>C (p.Asp68His) | |
5 | g.161854222G>T | CA362181585 | GABRA1 | c.139G>T (p.Asp47Tyr) n.914G>T c.201G>T (p.Trp67Cys) c.184G>T (p.Asp62Tyr) c.157G>T (p.Asp53Tyr) c.202G>T (p.Asp68Tyr) | |
5 | g.161854223A= | CA1596214947 | GABRA1 | c.140A= (p.Asp47=) n.915A= c.202A= (p.Thr68=) c.185A= (p.Asp62=) c.158A= (p.Asp53=) c.203A= (p.Asp68=) | |
5 | g.161854223A>C | CA362181586 | GABRA1 | c.140A>C (p.Asp47Ala) n.915A>C c.202A>C (p.Thr68Pro) c.185A>C (p.Asp62Ala) c.158A>C (p.Asp53Ala) c.203A>C (p.Asp68Ala) | |
5 | g.161854223A>G | CA362181588 | GABRA1 | c.140A>G (p.Asp47Gly) n.915A>G c.202A>G (p.Thr68Ala) c.185A>G (p.Asp62Gly) c.158A>G (p.Asp53Gly) c.203A>G (p.Asp68Gly) | dbSNP |
5 | g.161854223A>T | CA362181587 | GABRA1 | c.140A>T (p.Asp47Val) n.915A>T c.202A>T (p.Thr68Ser) c.185A>T (p.Asp62Val) c.158A>T (p.Asp53Val) c.203A>T (p.Asp68Val) | |
5 | g.161854224C>A | CA362181589 | GABRA1 | c.141C>A (p.Asp47Glu) n.916C>A c.203C>A (p.Thr68Lys) c.186C>A (p.Asp62Glu) c.159C>A (p.Asp53Glu) c.204C>A (p.Asp68Glu) | gnomAD v4 |
5 | g.161854224C>G | CA362181590 | GABRA1 | c.141C>G (p.Asp47Glu) n.916C>G c.203C>G (p.Thr68Arg) c.186C>G (p.Asp62Glu) c.159C>G (p.Asp53Glu) c.204C>G (p.Asp68Glu) | |
5 | g.161854224C>T | CA447608815 | GABRA1 | c.141C>T (p.Asp47=) n.916C>T c.203C>T (p.Thr68Ile) c.186C>T (p.Asp62=) c.159C>T (p.Asp53=) c.204C>T (p.Asp68=) | |
5 | g.161854225A= | CA1596214948 | GABRA1 | c.142A= (p.Arg48=) n.917A= c.204A= (p.Thr68=) c.187A= (p.Arg63=) c.160A= (p.Arg54=) c.205A= (p.Arg69=) | |
5 | g.161854225A>C | CA447608816 | GABRA1 | c.142A>C (p.Arg48=) n.917A>C c.204A>C (p.Thr68=) c.187A>C (p.Arg63=) c.160A>C (p.Arg54=) c.205A>C (p.Arg69=) | |
5 | g.161854225A>G | CA362181591 | GABRA1 | c.142A>G (p.Arg48Gly) n.917A>G c.204A>G (p.Thr68=) c.187A>G (p.Arg63Gly) c.160A>G (p.Arg54Gly) c.205A>G (p.Arg69Gly) | dbSNP gnomAD v2 |
5 | g.161854225A>T | CA362181592 | GABRA1 | c.142A>T (p.Arg48Ter) n.917A>T c.204A>T (p.Thr68=) c.187A>T (p.Arg63Ter) c.160A>T (p.Arg54Ter) c.205A>T (p.Arg69Ter) | |
5 | g.161854226G>A | CA362181593 | GABRA1 | c.143G>A (p.Arg48Lys) n.918G>A c.205G>A (p.Asp69Asn) c.188G>A (p.Arg63Lys) c.161G>A (p.Arg54Lys) c.206G>A (p.Arg69Lys) | |
5 | g.161854226G>C | CA362181595 | GABRA1 | c.143G>C (p.Arg48Thr) n.918G>C c.205G>C (p.Asp69His) c.188G>C (p.Arg63Thr) c.161G>C (p.Arg54Thr) c.206G>C (p.Arg69Thr) | gnomAD v4 |
5 | g.161854226G>T | CA362181594 | GABRA1 | c.143G>T (p.Arg48Ile) n.918G>T c.205G>T (p.Asp69Tyr) c.188G>T (p.Arg63Ile) c.161G>T (p.Arg54Ile) c.206G>T (p.Arg69Ile) | gnomAD v4 |
5 | g.161854227A>C | CA362181596 | GABRA1 | c.144A>C (p.Arg48Ser) n.919A>C c.206A>C (p.Asp69Ala) c.189A>C (p.Arg63Ser) c.162A>C (p.Arg54Ser) c.207A>C (p.Arg69Ser) | |
5 | g.161854227A>G | CA447608817 | GABRA1 | c.144A>G (p.Arg48=) n.919A>G c.206A>G (p.Asp69Gly) c.189A>G (p.Arg63=) c.162A>G (p.Arg54=) c.207A>G (p.Arg69=) | |
5 | g.161854227A>T | CA362181597 | GABRA1 | c.144A>T (p.Arg48Ser) n.919A>T c.206A>T (p.Asp69Val) c.189A>T (p.Arg63Ser) c.162A>T (p.Arg54Ser) c.207A>T (p.Arg69Ser) | |
5 | g.161854228C>A | CA362181598 | GABRA1 | c.145C>A (p.Leu49Ile) n.920C>A c.207C>A (p.Asp69Glu) c.190C>A (p.Leu64Ile) c.163C>A (p.Leu55Ile) c.208C>A (p.Leu70Ile) | |
5 | g.161854228C>G | CA362181599 | GABRA1 | c.145C>G (p.Leu49Val) n.920C>G c.207C>G (p.Asp69Glu) c.190C>G (p.Leu64Val) c.163C>G (p.Leu55Val) c.208C>G (p.Leu70Val) | |
5 | g.161854228C>T | CA362181600 | GABRA1 | c.145C>T (p.Leu49Phe) n.920C>T c.207C>T (p.Asp69=) c.190C>T (p.Leu64Phe) c.163C>T (p.Leu55Phe) c.208C>T (p.Leu70Phe) | |
5 | g.161854229T>A | CA362181601 | GABRA1 | c.146T>A (p.Leu49His) n.921T>A c.208T>A (p.Ser70Thr) c.191T>A (p.Leu64His) c.164T>A (p.Leu55His) c.209T>A (p.Leu70His) | ClinVar |
5 | g.161854229T>C | CA362181602 | GABRA1 | c.146T>C (p.Leu49Pro) n.921T>C c.208T>C (p.Ser70Pro) c.191T>C (p.Leu64Pro) c.164T>C (p.Leu55Pro) c.209T>C (p.Leu70Pro) | |
5 | g.161854229T>G | CA362181603 | GABRA1 | c.146T>G (p.Leu49Arg) n.921T>G c.208T>G (p.Ser70Ala) c.191T>G (p.Leu64Arg) c.164T>G (p.Leu55Arg) c.209T>G (p.Leu70Arg) | |
5 | g.161854230C>A | CA447608818 | GABRA1 | c.147C>A (p.Leu49=) n.922C>A c.209C>A (p.Ser70Tyr) c.192C>A (p.Leu64=) c.165C>A (p.Leu55=) c.210C>A (p.Leu70=) | ClinVar dbSNP gnomAD v4 |
5 | g.161854230C>G | CA447608819 | GABRA1 | c.147C>G (p.Leu49=) n.922C>G c.209C>G (p.Ser70Cys) c.192C>G (p.Leu64=) c.165C>G (p.Leu55=) c.210C>G (p.Leu70=) | |
5 | g.161854230C>T | CA447608820 | GABRA1 | c.147C>T (p.Leu49=) n.922C>T c.209C>T (p.Ser70Phe) c.192C>T (p.Leu64=) c.165C>T (p.Leu55=) c.210C>T (p.Leu70=) | |
5 | g.161854231C>A | CA362181604 | GABRA1 | c.148C>A (p.Leu50Ile) n.923C>A c.210C>A (p.Ser70=) c.193C>A (p.Leu65Ile) c.166C>A (p.Leu56Ile) c.211C>A (p.Leu71Ile) | |
5 | g.161854231C>G | CA362181605 | GABRA1 | c.148C>G (p.Leu50Val) n.923C>G c.210C>G (p.Ser70=) c.193C>G (p.Leu65Val) c.166C>G (p.Leu56Val) c.211C>G (p.Leu71Val) | |
5 | g.161854231C>T | CA447608821 | GABRA1 | c.148C>T (p.Leu50=) n.923C>T c.210C>T (p.Ser70=) c.193C>T (p.Leu65=) c.166C>T (p.Leu56=) c.211C>T (p.Leu71=) | ClinVar dbSNP gnomAD v4 COSMIC |
5 | g.161854232del | CA2676321541 | GABRA1 | c.149del (p.Leu50GlnfsTer8) n.924del c.211del (p.Ter71ArgextTer4) c.194del (p.Leu65GlnfsTer8) c.167del (p.Leu56GlnfsTer8) c.212del (p.Leu71GlnfsTer8) | gnomAD v4 |
5 | g.161854232T>A | CA362181608 | GABRA1 | c.149T>A (p.Leu50Gln) n.924T>A c.211T>A (p.Ter71Lys) c.194T>A (p.Leu65Gln) c.167T>A (p.Leu56Gln) c.212T>A (p.Leu71Gln) | |
5 | g.161854232T>C | CA362181607 | GABRA1 | c.149T>C (p.Leu50Pro) n.924T>C c.211T>C (p.Ter71Gln) c.194T>C (p.Leu65Pro) c.167T>C (p.Leu56Pro) c.212T>C (p.Leu71Pro) | |
5 | g.161854232T>G | CA362181606 | GABRA1 | c.149T>G (p.Leu50Arg) n.924T>G c.211T>G (p.Ter71Glu) c.194T>G (p.Leu65Arg) c.167T>G (p.Leu56Arg) c.212T>G (p.Leu71Arg) | |
5 | g.161854233A= | CA1596214953 | GABRA1 | c.150A= (p.Leu50=) n.925A= c.212A= (p.Ter71=) c.195A= (p.Leu65=) c.168A= (p.Leu56=) c.213A= (p.Leu71=) | |
5 | g.161854233A>C | CA447608822 | GABRA1 | c.150A>C (p.Leu50=) n.925A>C c.212A>C (p.Ter71Ser) c.195A>C (p.Leu65=) c.168A>C (p.Leu56=) c.213A>C (p.Leu71=) | |
5 | g.161854233A>G | CA131082511 | GABRA1 | c.150A>G (p.Leu50=) n.925A>G c.212A>G (p.Ter71Trp) c.195A>G (p.Leu65=) c.168A>G (p.Leu56=) c.213A>G (p.Leu71=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
5 | g.161854233A>T | CA447608823 | GABRA1 | c.150A>T (p.Leu50=) n.925A>T c.212A>T (p.Ter71Leu) c.195A>T (p.Leu65=) c.168A>T (p.Leu56=) c.213A>T (p.Leu71=) | dbSNP |
5 | g.161854234G>A | CA362181609 | GABRA1 | c.151G>A (p.Asp51Asn) n.926G>A c.213G>A (p.Ter71=) c.196G>A (p.Asp66Asn) c.169G>A (p.Asp57Asn) c.214G>A (p.Asp72Asn) | |
5 | g.161854234G>C | CA362181610 | GABRA1 | c.151G>C (p.Asp51His) n.926G>C c.213G>C (p.Ter71Tyr) c.196G>C (p.Asp66His) c.169G>C (p.Asp57His) c.214G>C (p.Asp72His) | |
5 | g.161854234G>T | CA362181611 | GABRA1 | c.151G>T (p.Asp51Tyr) n.926G>T c.213G>T (p.Ter71Tyr) c.196G>T (p.Asp66Tyr) c.169G>T (p.Asp57Tyr) c.214G>T (p.Asp72Tyr) | gnomAD v4 |
5 | g.161854235A= | CA1596214959 | GABRA1 | c.152A= (p.Asp51=) n.927A= c.*1A= (n.*1A=) c.197A= (p.Asp66=) c.170A= (p.Asp57=) c.215A= (p.Asp72=) | |
5 | g.161854235A>C | CA362181612 | GABRA1 | c.152A>C (p.Asp51Ala) n.927A>C c.*1A>C (n.*1A>C) c.197A>C (p.Asp66Ala) c.170A>C (p.Asp57Ala) c.215A>C (p.Asp72Ala) | |
5 | g.161854235A>G | CA3544343 | GABRA1 | c.152A>G (p.Asp51Gly) n.927A>G c.*1A>G (n.*1A>G) c.197A>G (p.Asp66Gly) c.170A>G (p.Asp57Gly) c.215A>G (p.Asp72Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854235A>T | CA362181613 | GABRA1 | c.152A>T (p.Asp51Val) n.927A>T c.*1A>T (n.*1A>T) c.197A>T (p.Asp66Val) c.170A>T (p.Asp57Val) c.215A>T (p.Asp72Val) | |
5 | g.161854236T>A | CA362181614 | GABRA1 | c.153T>A (p.Asp51Glu) n.928T>A c.*2T>A (n.*2T>A) c.198T>A (p.Asp66Glu) c.171T>A (p.Asp57Glu) c.216T>A (p.Asp72Glu) | gnomAD v4 |
5 | g.161854236T>C | CA447608824 | GABRA1 | c.153T>C (p.Asp51=) n.928T>C c.*2T>C (n.*2T>C) c.198T>C (p.Asp66=) c.171T>C (p.Asp57=) c.216T>C (p.Asp72=) | ClinVar |
5 | g.161854236T>G | CA362181615 | GABRA1 | c.153T>G (p.Asp51Glu) n.928T>G c.*2T>G (n.*2T>G) c.198T>G (p.Asp66Glu) c.171T>G (p.Asp57Glu) c.216T>G (p.Asp72Glu) | |
5 | g.161854237G>A | CA362181616 | GABRA1 | c.154G>A (p.Gly52Ser) n.929G>A c.*3G>A (n.*3G>A) c.199G>A (p.Gly67Ser) c.172G>A (p.Gly58Ser) c.217G>A (p.Gly73Ser) | |
5 | g.161854237G>C | CA362181617 | GABRA1 | c.154G>C (p.Gly52Arg) n.929G>C c.*3G>C (n.*3G>C) c.199G>C (p.Gly67Arg) c.172G>C (p.Gly58Arg) c.217G>C (p.Gly73Arg) | |
5 | g.161854237G>T | CA362181618 | GABRA1 | c.154G>T (p.Gly52Cys) n.929G>T c.*3G>T (n.*3G>T) c.199G>T (p.Gly67Cys) c.172G>T (p.Gly58Cys) c.217G>T (p.Gly73Cys) | gnomAD v4 |
5 | g.161854238G>A | CA362181619 | GABRA1 | c.155G>A (p.Gly52Asp) n.930G>A c.*4G>A (n.*4G>A) c.200G>A (p.Gly67Asp) c.173G>A (p.Gly58Asp) c.218G>A (p.Gly73Asp) | |
5 | g.161854238G>C | CA362181620 | GABRA1 | c.155G>C (p.Gly52Ala) n.930G>C c.*4G>C (n.*4G>C) c.200G>C (p.Gly67Ala) c.173G>C (p.Gly58Ala) c.218G>C (p.Gly73Ala) | gnomAD v4 |
5 | g.161854238G>T | CA362181621 | GABRA1 | c.155G>T (p.Gly52Val) n.930G>T c.*4G>T (n.*4G>T) c.200G>T (p.Gly67Val) c.173G>T (p.Gly58Val) c.218G>T (p.Gly73Val) | |
5 | g.161854239T>A | CA447608825 | GABRA1 | c.156T>A (p.Gly52=) n.931T>A c.*5T>A (n.*5T>A) c.201T>A (p.Gly67=) c.174T>A (p.Gly58=) c.219T>A (p.Gly73=) | gnomAD v4 |
5 | g.161854239T>C | CA152923 | GABRA1 | c.156T>C (p.Gly52=) n.931T>C c.*5T>C (n.*5T>C) c.201T>C (p.Gly67=) c.174T>C (p.Gly58=) c.219T>C (p.Gly73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161854239T>G | CA447608826 | GABRA1 | c.156T>G (p.Gly52=) n.931T>G c.*5T>G (n.*5T>G) c.201T>G (p.Gly67=) c.174T>G (p.Gly58=) c.219T>G (p.Gly73=) | dbSNP |
5 | g.161854239T= | CA1596214967 | GABRA1 | c.156T= (p.Gly52=) n.931T= c.*5T= (n.*5T=) c.201T= (p.Gly67=) c.174T= (p.Gly58=) c.219T= (p.Gly73=) | |
5 | g.161854239_161854240insC | CA2676321542 | GABRA1 | c.156_157insC (p.Tyr53LeufsTer2) n.931_932insC c.*5_*6insC (n.*5_*6insC) c.201_202insC (p.Tyr68LeufsTer2) c.174_175insC (p.Tyr59LeufsTer2) c.219_220insC (p.Tyr74LeufsTer2) | gnomAD v4 |
5 | g.161854240T>A | CA362181622 | GABRA1 | c.157T>A (p.Tyr53Asn) n.932T>A c.*6T>A (n.*6T>A) c.202T>A (p.Tyr68Asn) c.175T>A (p.Tyr59Asn) c.220T>A (p.Tyr74Asn) | |
5 | g.161854240T>C | CA362181623 | GABRA1 | c.157T>C (p.Tyr53His) n.932T>C c.*6T>C (n.*6T>C) c.202T>C (p.Tyr68His) c.175T>C (p.Tyr59His) c.220T>C (p.Tyr74His) | |
5 | g.161854240T>G | CA362181624 | GABRA1 | c.157T>G (p.Tyr53Asp) n.932T>G c.*6T>G (n.*6T>G) c.202T>G (p.Tyr68Asp) c.175T>G (p.Tyr59Asp) c.220T>G (p.Tyr74Asp) | |
5 | g.161854241A>C | CA362181625 | GABRA1 | c.158A>C (p.Tyr53Ser) n.933A>C c.*7A>C (n.*7A>C) c.203A>C (p.Tyr68Ser) c.176A>C (p.Tyr59Ser) c.221A>C (p.Tyr74Ser) | |
5 | g.161854241A>G | CA362181626 | GABRA1 | c.158A>G (p.Tyr53Cys) n.933A>G c.*7A>G (n.*7A>G) c.203A>G (p.Tyr68Cys) c.176A>G (p.Tyr59Cys) c.221A>G (p.Tyr74Cys) | gnomAD v4 |
5 | g.161854241A>T | CA362181627 | GABRA1 | c.158A>T (p.Tyr53Phe) n.933A>T c.*7A>T (n.*7A>T) c.203A>T (p.Tyr68Phe) c.176A>T (p.Tyr59Phe) c.221A>T (p.Tyr74Phe) | |
5 | g.161854242T>A | CA362181628 | GABRA1 | c.159T>A (p.Tyr53Ter) n.934T>A c.*8T>A (n.*8T>A) c.204T>A (p.Tyr68Ter) c.177T>A (p.Tyr59Ter) c.222T>A (p.Tyr74Ter) | |
5 | g.161854242T>C | CA3544344 | GABRA1 | c.159T>C (p.Tyr53=) n.934T>C c.*8T>C (n.*8T>C) c.204T>C (p.Tyr68=) c.177T>C (p.Tyr59=) c.222T>C (p.Tyr74=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854242T>G | CA362181629 | GABRA1 | c.159T>G (p.Tyr53Ter) n.934T>G c.*8T>G (n.*8T>G) c.204T>G (p.Tyr68Ter) c.177T>G (p.Tyr59Ter) c.222T>G (p.Tyr74Ter) | |
5 | g.161854242T= | CA1596214971 | GABRA1 | c.159T= (p.Tyr53=) n.934T= c.*8T= (n.*8T=) c.204T= (p.Tyr68=) c.177T= (p.Tyr59=) c.222T= (p.Tyr74=) | |
5 | g.161854243G>A | CA362181630 | GABRA1 | c.160G>A (p.Asp54Asn) n.935G>A c.*9G>A (n.*9G>A) c.205G>A (p.Asp69Asn) c.178G>A (p.Asp60Asn) c.223G>A (p.Asp75Asn) | |
5 | g.161854243G>C | CA362181631 | GABRA1 | c.160G>C (p.Asp54His) n.935G>C c.*9G>C (n.*9G>C) c.205G>C (p.Asp69His) c.178G>C (p.Asp60His) c.223G>C (p.Asp75His) | |
5 | g.161854243G>T | CA362181632 | GABRA1 | c.160G>T (p.Asp54Tyr) n.935G>T c.*9G>T (n.*9G>T) c.205G>T (p.Asp69Tyr) c.178G>T (p.Asp60Tyr) c.223G>T (p.Asp75Tyr) | |
5 | g.161854244A>C | CA362181635 | GABRA1 | c.161A>C (p.Asp54Ala) n.936A>C c.*10A>C (n.*10A>C) c.206A>C (p.Asp69Ala) c.179A>C (p.Asp60Ala) c.224A>C (p.Asp75Ala) | |
5 | g.161854244A>G | CA362181634 | GABRA1 | c.161A>G (p.Asp54Gly) n.936A>G c.*10A>G (n.*10A>G) c.206A>G (p.Asp69Gly) c.179A>G (p.Asp60Gly) c.224A>G (p.Asp75Gly) | |
5 | g.161854244A>T | CA362181633 | GABRA1 | c.161A>T (p.Asp54Val) n.936A>T c.*10A>T (n.*10A>T) c.206A>T (p.Asp69Val) c.179A>T (p.Asp60Val) c.224A>T (p.Asp75Val) | |
5 | g.161854245C>A | CA362181636 | GABRA1 | c.162C>A (p.Asp54Glu) n.937C>A c.*11C>A (n.*11C>A) c.207C>A (p.Asp69Glu) c.180C>A (p.Asp60Glu) c.225C>A (p.Asp75Glu) | gnomAD v4 |
5 | g.161854245C>G | CA362181637 | GABRA1 | c.162C>G (p.Asp54Glu) n.937C>G c.*11C>G (n.*11C>G) c.207C>G (p.Asp69Glu) c.180C>G (p.Asp60Glu) c.225C>G (p.Asp75Glu) | |
5 | g.161854245C>T | CA447608827 | GABRA1 | c.162C>T (p.Asp54=) n.937C>T c.*11C>T (n.*11C>T) c.207C>T (p.Asp69=) c.180C>T (p.Asp60=) c.225C>T (p.Asp75=) | |
5 | g.161854246A>C | CA362181638 | GABRA1 | c.163A>C (p.Asn55His) n.938A>C c.*12A>C (n.*12A>C) c.208A>C (p.Asn70His) c.181A>C (p.Asn61His) c.226A>C (p.Asn76His) | |
5 | g.161854246A>G | CA362181639 | GABRA1 | c.163A>G (p.Asn55Asp) n.938A>G c.*12A>G (n.*12A>G) c.208A>G (p.Asn70Asp) c.181A>G (p.Asn61Asp) c.226A>G (p.Asn76Asp) | |
5 | g.161854246A>T | CA362181640 | GABRA1 | c.163A>T (p.Asn55Tyr) n.938A>T c.*12A>T (n.*12A>T) c.208A>T (p.Asn70Tyr) c.181A>T (p.Asn61Tyr) c.226A>T (p.Asn76Tyr) | |
5 | g.161854247A>C | CA362181641 | GABRA1 | c.164A>C (p.Asn55Thr) n.939A>C c.*13A>C (n.*13A>C) c.209A>C (p.Asn70Thr) c.182A>C (p.Asn61Thr) c.227A>C (p.Asn76Thr) | |
5 | g.161854247A>G | CA362181642 | GABRA1 | c.164A>G (p.Asn55Ser) n.939A>G c.*13A>G (n.*13A>G) c.209A>G (p.Asn70Ser) c.182A>G (p.Asn61Ser) c.227A>G (p.Asn76Ser) | |
5 | g.161854247A>T | CA362181643 | GABRA1 | c.164A>T (p.Asn55Ile) n.939A>T c.*13A>T (n.*13A>T) c.209A>T (p.Asn70Ile) c.182A>T (p.Asn61Ile) c.227A>T (p.Asn76Ile) | |
5 | g.161854248T>A | CA362181644 | GABRA1 | c.165T>A (p.Asn55Lys) n.940T>A c.*14T>A (n.*14T>A) c.210T>A (p.Asn70Lys) c.183T>A (p.Asn61Lys) c.228T>A (p.Asn76Lys) | |
5 | g.161854248T>C | CA447608828 | GABRA1 | c.165T>C (p.Asn55=) n.940T>C c.*14T>C (n.*14T>C) c.210T>C (p.Asn70=) c.183T>C (p.Asn61=) c.228T>C (p.Asn76=) | |
5 | g.161854248T>G | CA362181645 | GABRA1 | c.165T>G (p.Asn55Lys) n.940T>G c.*14T>G (n.*14T>G) c.210T>G (p.Asn70Lys) c.183T>G (p.Asn61Lys) c.228T>G (p.Asn76Lys) | |
5 | g.161854249del | CA2676321546 | GABRA1 | c.166del (p.Arg56AlafsTer2) n.941del c.*15del (n.*15del) c.211del (p.Arg71AlafsTer2) c.184del (p.Arg62AlafsTer2) c.229del (p.Arg77AlafsTer2) | gnomAD v4 |
5 | g.161854249C>A | CA362181646 | GABRA1 | c.166C>A (p.Arg56Ser) n.941C>A c.*15C>A (n.*15C>A) c.211C>A (p.Arg71Ser) c.184C>A (p.Arg62Ser) c.229C>A (p.Arg77Ser) | gnomAD v4 |
5 | g.161854249C>G | CA362181647 | GABRA1 | c.166C>G (p.Arg56Gly) n.941C>G c.*15C>G (n.*15C>G) c.211C>G (p.Arg71Gly) c.184C>G (p.Arg62Gly) c.229C>G (p.Arg77Gly) | |
5 | g.161854249C>T | CA362181648 | GABRA1 | c.166C>T (p.Arg56Cys) n.941C>T c.*15C>T (n.*15C>T) c.211C>T (p.Arg71Cys) c.184C>T (p.Arg62Cys) c.229C>T (p.Arg77Cys) | gnomAD v4 COSMIC |
5 | g.161854250G>A | CA362181649 | GABRA1 | c.167G>A (p.Arg56His) n.942G>A c.*16G>A (n.*16G>A) c.212G>A (p.Arg71His) c.185G>A (p.Arg62His) c.230G>A (p.Arg77His) | ClinVar gnomAD v4 |
5 | g.161854250G>C | CA362181650 | GABRA1 | c.167G>C (p.Arg56Pro) n.942G>C c.*16G>C (n.*16G>C) c.212G>C (p.Arg71Pro) c.185G>C (p.Arg62Pro) c.230G>C (p.Arg77Pro) | |
5 | g.161854250G>T | CA362181651 | GABRA1 | c.167G>T (p.Arg56Leu) n.942G>T c.*16G>T (n.*16G>T) c.212G>T (p.Arg71Leu) c.185G>T (p.Arg62Leu) c.230G>T (p.Arg77Leu) | |
5 | g.161854251C>A | CA447608829 | GABRA1 | c.168C>A (p.Arg56=) n.943C>A c.*17C>A (n.*17C>A) c.213C>A (p.Arg71=) c.186C>A (p.Arg62=) c.231C>A (p.Arg77=) | gnomAD v4 |
5 | g.161854251C>G | CA447608831 | GABRA1 | c.168C>G (p.Arg56=) n.943C>G c.*17C>G (n.*17C>G) c.213C>G (p.Arg71=) c.186C>G (p.Arg62=) c.231C>G (p.Arg77=) | |
5 | g.161854251C>T | CA447608830 | GABRA1 | c.168C>T (p.Arg56=) n.943C>T c.*17C>T (n.*17C>T) c.213C>T (p.Arg71=) c.186C>T (p.Arg62=) c.231C>T (p.Arg77=) | COSMIC |
5 | g.161854252C>A | CA362181652 | GABRA1 | c.169C>A (p.Leu57Met) n.944C>A c.*18C>A (n.*18C>A) c.214C>A (p.Leu72Met) c.187C>A (p.Leu63Met) c.232C>A (p.Leu78Met) | |
5 | g.161854252C>G | CA362181653 | GABRA1 | c.169C>G (p.Leu57Val) n.944C>G c.*18C>G (n.*18C>G) c.214C>G (p.Leu72Val) c.187C>G (p.Leu63Val) c.232C>G (p.Leu78Val) | |
5 | g.161854252C>T | CA447608832 | GABRA1 | c.169C>T (p.Leu57=) n.944C>T c.*18C>T (n.*18C>T) c.214C>T (p.Leu72=) c.187C>T (p.Leu63=) c.232C>T (p.Leu78=) | |
5 | g.161854253T>A | CA362181654 | GABRA1 | c.170T>A (p.Leu57Gln) n.945T>A c.*19T>A (n.*19T>A) c.215T>A (p.Leu72Gln) c.188T>A (p.Leu63Gln) c.233T>A (p.Leu78Gln) | |
5 | g.161854253T>C | CA362181655 | GABRA1 | c.170T>C (p.Leu57Pro) n.945T>C c.*19T>C (n.*19T>C) c.215T>C (p.Leu72Pro) c.188T>C (p.Leu63Pro) c.233T>C (p.Leu78Pro) | gnomAD v4 |
5 | g.161854253T>G | CA362181656 | GABRA1 | c.170T>G (p.Leu57Arg) n.945T>G c.*19T>G (n.*19T>G) c.215T>G (p.Leu72Arg) c.188T>G (p.Leu63Arg) c.233T>G (p.Leu78Arg) | |
5 | g.161854254G>A | CA3544345 | GABRA1 | c.171G>A (p.Leu57=) n.946G>A c.*20G>A (n.*20G>A) c.216G>A (p.Leu72=) c.189G>A (p.Leu63=) c.234G>A (p.Leu78=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
5 | g.161854254G>C | CA447608833 | GABRA1 | c.171G>C (p.Leu57=) n.946G>C c.*20G>C (n.*20G>C) c.216G>C (p.Leu72=) c.189G>C (p.Leu63=) c.234G>C (p.Leu78=) | |
5 | g.161854254G= | CA1596214976 | GABRA1 | c.171G= (p.Leu57=) n.946G= c.*20G= (n.*20G=) c.216G= (p.Leu72=) c.189G= (p.Leu63=) c.234G= (p.Leu78=) | |
5 | g.161854254G>T | CA447608834 | GABRA1 | c.171G>T (p.Leu57=) n.946G>T c.*20G>T (n.*20G>T) c.216G>T (p.Leu72=) c.189G>T (p.Leu63=) c.234G>T (p.Leu78=) | |
5 | g.161854256_161854257del | CA2676321551 | GABRA1 | c.173_174del (p.Arg58ThrfsTer13) n.948_949del c.*22_*23del (n.*22_*23del) c.218_219del (p.Arg73ThrfsTer13) c.191_192del (p.Arg64ThrfsTer13) c.236_237del (p.Arg79ThrfsTer13) | gnomAD v4 |
5 | g.161854255A>C | CA447608835 | GABRA1 | c.172A>C (p.Arg58=) n.947A>C c.*21A>C (n.*21A>C) c.217A>C (p.Arg73=) c.190A>C (p.Arg64=) c.235A>C (p.Arg79=) | |
5 | g.161854255A>G | CA362181657 | GABRA1 | c.172A>G (p.Arg58Gly) n.947A>G c.*21A>G (n.*21A>G) c.217A>G (p.Arg73Gly) c.190A>G (p.Arg64Gly) c.235A>G (p.Arg79Gly) | gnomAD v4 |
5 | g.161854255A>T | CA362181658 | GABRA1 | c.172A>T (p.Arg58Ter) n.947A>T c.*21A>T (n.*21A>T) c.217A>T (p.Arg73Ter) c.190A>T (p.Arg64Ter) c.235A>T (p.Arg79Ter) | |
5 | g.161854256G>A | CA362181659 | GABRA1 | c.173G>A (p.Arg58Lys) n.948G>A c.*22G>A (n.*22G>A) c.218G>A (p.Arg73Lys) c.191G>A (p.Arg64Lys) c.236G>A (p.Arg79Lys) | |
5 | g.161854256G>C | CA362181660 | GABRA1 | c.173G>C (p.Arg58Thr) n.948G>C c.*22G>C (n.*22G>C) c.218G>C (p.Arg73Thr) c.191G>C (p.Arg64Thr) c.236G>C (p.Arg79Thr) | |
5 | g.161854256G>T | CA362181661 | GABRA1 | c.173G>T (p.Arg58Ile) n.948G>T c.*22G>T (n.*22G>T) c.218G>T (p.Arg73Ile) c.191G>T (p.Arg64Ile) c.236G>T (p.Arg79Ile) | |
5 | g.161854257A>C | CA362181662 | GABRA1 | c.174A>C (p.Arg58Ser) n.949A>C c.*23A>C (n.*23A>C) c.219A>C (p.Arg73Ser) c.192A>C (p.Arg64Ser) c.237A>C (p.Arg79Ser) | |
5 | g.161854257A>G | CA447608836 | GABRA1 | c.174A>G (p.Arg58=) n.949A>G c.*23A>G (n.*23A>G) c.219A>G (p.Arg73=) c.192A>G (p.Arg64=) c.237A>G (p.Arg79=) | gnomAD v4 |
5 | g.161854257A>T | CA362181663 | GABRA1 | c.174A>T (p.Arg58Ser) n.949A>T c.*23A>T (n.*23A>T) c.219A>T (p.Arg73Ser) c.192A>T (p.Arg64Ser) c.237A>T (p.Arg79Ser) | |
5 | g.161854258C>A | CA3544346 | GABRA1 | c.175C>A (p.Pro59Thr) n.950C>A c.*24C>A (n.*24C>A) c.220C>A (p.Pro74Thr) c.193C>A (p.Pro65Thr) c.238C>A (p.Pro80Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854258C= | CA1596214980 | GABRA1 | c.175C= (p.Pro59=) n.950C= c.*24C= (n.*24C=) c.220C= (p.Pro74=) c.193C= (p.Pro65=) c.238C= (p.Pro80=) | |
5 | g.161854258C>G | CA362181665 | GABRA1 | c.175C>G (p.Pro59Ala) n.950C>G c.*24C>G (n.*24C>G) c.220C>G (p.Pro74Ala) c.193C>G (p.Pro65Ala) c.238C>G (p.Pro80Ala) | |
5 | g.161854258C>T | CA362181664 | GABRA1 | c.175C>T (p.Pro59Ser) n.950C>T c.*24C>T (n.*24C>T) c.220C>T (p.Pro74Ser) c.193C>T (p.Pro65Ser) c.238C>T (p.Pro80Ser) | |
5 | g.161854259del | CA2578474531 | GABRA1 | c.176del (p.Pro59GlnfsTer7) n.951del c.*25del (n.*25del) c.221del (p.Pro74GlnfsTer7) c.194del (p.Pro65GlnfsTer7) c.239del (p.Pro80GlnfsTer7) | gnomAD v4 |
5 | g.161854259C>A | CA362181666 | GABRA1 | c.176C>A (p.Pro59Gln) n.951C>A c.*25C>A (n.*25C>A) c.221C>A (p.Pro74Gln) c.194C>A (p.Pro65Gln) c.239C>A (p.Pro80Gln) | gnomAD v4 |
5 | g.161854259C= | CA1596214986 | GABRA1 | c.176C= (p.Pro59=) n.951C= c.*25C= (n.*25C=) c.221C= (p.Pro74=) c.194C= (p.Pro65=) c.239C= (p.Pro80=) | |
5 | g.161854259C>G | CA362181667 | GABRA1 | c.176C>G (p.Pro59Arg) n.951C>G c.*25C>G (n.*25C>G) c.221C>G (p.Pro74Arg) c.194C>G (p.Pro65Arg) c.239C>G (p.Pro80Arg) | |
5 | g.161854259C>T | CA16618154 | GABRA1 | c.176C>T (p.Pro59Leu) n.951C>T c.*25C>T (n.*25C>T) c.221C>T (p.Pro74Leu) c.194C>T (p.Pro65Leu) c.239C>T (p.Pro80Leu) | ClinVar dbSNP |
5 | g.161854260A= | CA1596214994 | GABRA1 | c.177A= (p.Pro59=) n.952A= c.*26A= (n.*26A=) c.222A= (p.Pro74=) c.195A= (p.Pro65=) c.240A= (p.Pro80=) | |
5 | g.161854260A>C | CA447608838 | GABRA1 | c.177A>C (p.Pro59=) n.952A>C c.*26A>C (n.*26A>C) c.222A>C (p.Pro74=) c.195A>C (p.Pro65=) c.240A>C (p.Pro80=) | |
5 | g.161854260A>G | CA3544347 | GABRA1 | c.177A>G (p.Pro59=) n.952A>G c.*26A>G (n.*26A>G) c.222A>G (p.Pro74=) c.195A>G (p.Pro65=) c.240A>G (p.Pro80=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854260A>T | CA447608837 | GABRA1 | c.177A>T (p.Pro59=) n.952A>T c.*26A>T (n.*26A>T) c.222A>T (p.Pro74=) c.195A>T (p.Pro65=) c.240A>T (p.Pro80=) | |
5 | g.161854261G>A | CA362181668 | GABRA1 | c.178G>A (p.Gly60Arg) n.953G>A c.*27G>A (n.*27G>A) c.223G>A (p.Gly75Arg) c.196G>A (p.Gly66Arg) c.241G>A (p.Gly81Arg) | |
5 | g.161854261G>C | CA362181669 | GABRA1 | c.178G>C (p.Gly60Arg) n.953G>C c.*27G>C (n.*27G>C) c.223G>C (p.Gly75Arg) c.196G>C (p.Gly66Arg) c.241G>C (p.Gly81Arg) | |
5 | g.161854261G>T | CA362181670 | GABRA1 | c.178G>T (p.Gly60Ter) n.953G>T c.*27G>T (n.*27G>T) c.223G>T (p.Gly75Ter) c.196G>T (p.Gly66Ter) c.241G>T (p.Gly81Ter) | |
5 | g.161854262G>A | CA362181671 | GABRA1 | c.179G>A (p.Gly60Glu) n.954G>A c.*28G>A (n.*28G>A) c.224G>A (p.Gly75Glu) c.197G>A (p.Gly66Glu) c.242G>A (p.Gly81Glu) | gnomAD v4 |
5 | g.161854262G>C | CA362181672 | GABRA1 | c.179G>C (p.Gly60Ala) n.954G>C c.*28G>C (n.*28G>C) c.224G>C (p.Gly75Ala) c.197G>C (p.Gly66Ala) c.242G>C (p.Gly81Ala) | |
5 | g.161854262G>T | CA362181673 | GABRA1 | c.179G>T (p.Gly60Val) n.954G>T c.*28G>T (n.*28G>T) c.224G>T (p.Gly75Val) c.197G>T (p.Gly66Val) c.242G>T (p.Gly81Val) | |
5 | g.161854263A>C | CA447608839 | GABRA1 | c.180A>C (p.Gly60=) n.955A>C c.*29A>C (n.*29A>C) c.225A>C (p.Gly75=) c.198A>C (p.Gly66=) c.243A>C (p.Gly81=) | |
5 | g.161854263A>G | CA447608840 | GABRA1 | c.180A>G (p.Gly60=) n.955A>G c.*29A>G (n.*29A>G) c.225A>G (p.Gly75=) c.198A>G (p.Gly66=) c.243A>G (p.Gly81=) | |
5 | g.161854263A>T | CA447608841 | GABRA1 | c.180A>T (p.Gly60=) n.955A>T c.*29A>T (n.*29A>T) c.225A>T (p.Gly75=) c.198A>T (p.Gly66=) c.243A>T (p.Gly81=) | |
5 | g.161854264T>A | CA362181674 | GABRA1 | c.181T>A (p.Leu61Met) n.956T>A c.*30T>A (n.*30T>A) c.226T>A (p.Leu76Met) c.199T>A (p.Leu67Met) c.244T>A (p.Leu82Met) | |
5 | g.161854264T>C | CA447608842 | GABRA1 | c.181T>C (p.Leu61=) n.956T>C c.*30T>C (n.*30T>C) c.226T>C (p.Leu76=) c.199T>C (p.Leu67=) c.244T>C (p.Leu82=) | gnomAD v4 |
5 | g.161854264T>G | CA362181675 | GABRA1 | c.181T>G (p.Leu61Val) n.956T>G c.*30T>G (n.*30T>G) c.226T>G (p.Leu76Val) c.199T>G (p.Leu67Val) c.244T>G (p.Leu82Val) | |
5 | g.161854265T>A | CA362181678 | GABRA1 | c.182T>A (p.Leu61Ter) n.957T>A c.*31T>A (n.*31T>A) c.227T>A (p.Leu76Ter) c.200T>A (p.Leu67Ter) c.245T>A (p.Leu82Ter) | |
5 | g.161854265T>C | CA362181677 | GABRA1 | c.182T>C (p.Leu61Ser) n.957T>C c.*31T>C (n.*31T>C) c.227T>C (p.Leu76Ser) c.200T>C (p.Leu67Ser) c.245T>C (p.Leu82Ser) | |
5 | g.161854265T>G | CA362181676 | GABRA1 | c.182T>G (p.Leu61Trp) n.957T>G c.*31T>G (n.*31T>G) c.227T>G (p.Leu76Trp) c.200T>G (p.Leu67Trp) c.245T>G (p.Leu82Trp) | |
5 | g.161854266G>A | CA3544348 | GABRA1 | c.183G>A (p.Leu61=) n.958G>A c.*32G>A (n.*32G>A) c.228G>A (p.Leu76=) c.201G>A (p.Leu67=) c.246G>A (p.Leu82=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854266G>C | CA362181679 | GABRA1 | c.183G>C (p.Leu61Phe) n.958G>C c.*32G>C (n.*32G>C) c.228G>C (p.Leu76Phe) c.201G>C (p.Leu67Phe) c.246G>C (p.Leu82Phe) | |
5 | g.161854266G= | CA1596214998 | GABRA1 | c.183G= (p.Leu61=) n.958G= c.*32G= (n.*32G=) c.228G= (p.Leu76=) c.201G= (p.Leu67=) c.246G= (p.Leu82=) | |
5 | g.161854266G>T | CA362181680 | GABRA1 | c.183G>T (p.Leu61Phe) n.958G>T c.*32G>T (n.*32G>T) c.228G>T (p.Leu76Phe) c.201G>T (p.Leu67Phe) c.246G>T (p.Leu82Phe) | |
5 | g.161854268del | CA2578474532 | GABRA1 | c.185del (p.Gly62GlufsTer4) n.960del c.*34del (n.*34del) c.230del (p.Gly77GlufsTer4) c.203del (p.Gly68GlufsTer4) c.248del (p.Gly83GlufsTer4) | |
5 | g.161854267G>A | CA362181681 | GABRA1 | c.184G>A (p.Gly62Arg) n.959G>A c.*33G>A (n.*33G>A) c.229G>A (p.Gly77Arg) c.202G>A (p.Gly68Arg) c.247G>A (p.Gly83Arg) | gnomAD v4 |
5 | g.161854267G>C | CA362181682 | GABRA1 | c.184G>C (p.Gly62Arg) n.959G>C c.*33G>C (n.*33G>C) c.229G>C (p.Gly77Arg) c.202G>C (p.Gly68Arg) c.247G>C (p.Gly83Arg) | |
5 | g.161854267G>T | CA362181683 | GABRA1 | c.184G>T (p.Gly62Ter) n.959G>T c.*33G>T (n.*33G>T) c.229G>T (p.Gly77Ter) c.202G>T (p.Gly68Ter) c.247G>T (p.Gly83Ter) | gnomAD v4 |
5 | g.161854268G>A | CA362181684 | GABRA1 | c.185G>A (p.Gly62Glu) n.960G>A c.*34G>A (n.*34G>A) c.230G>A (p.Gly77Glu) c.203G>A (p.Gly68Glu) c.248G>A (p.Gly83Glu) | gnomAD v4 |
5 | g.161854268G>C | CA362181685 | GABRA1 | c.185G>C (p.Gly62Ala) n.960G>C c.*34G>C (n.*34G>C) c.230G>C (p.Gly77Ala) c.203G>C (p.Gly68Ala) c.248G>C (p.Gly83Ala) | |
5 | g.161854268G>T | CA362181686 | GABRA1 | c.185G>T (p.Gly62Val) n.960G>T c.*34G>T (n.*34G>T) c.230G>T (p.Gly77Val) c.203G>T (p.Gly68Val) c.248G>T (p.Gly83Val) | |
5 | g.161854269A>C | CA447608843 | GABRA1 | c.186A>C (p.Gly62=) n.961A>C c.*35A>C (n.*35A>C) c.231A>C (p.Gly77=) c.204A>C (p.Gly68=) c.249A>C (p.Gly83=) | gnomAD v4 |
5 | g.161854269A>G | CA447608844 | GABRA1 | c.186A>G (p.Gly62=) n.961A>G c.*35A>G (n.*35A>G) c.231A>G (p.Gly77=) c.204A>G (p.Gly68=) c.249A>G (p.Gly83=) | gnomAD v4 |
5 | g.161854269A>T | CA447608845 | GABRA1 | c.186A>T (p.Gly62=) n.961A>T c.*35A>T (n.*35A>T) c.231A>T (p.Gly77=) c.204A>T (p.Gly68=) c.249A>T (p.Gly83=) | gnomAD v4 |
5 | g.161854270G>A | CA362181687 | GABRA1 | c.187G>A (p.Glu63Lys) n.962G>A c.*36G>A (n.*36G>A) c.232G>A (p.Glu78Lys) c.205G>A (p.Glu69Lys) c.250G>A (p.Glu84Lys) | ClinVar dbSNP gnomAD v4 |
5 | g.161854270G>C | CA362181688 | GABRA1 | c.187G>C (p.Glu63Gln) n.962G>C c.*36G>C (n.*36G>C) c.232G>C (p.Glu78Gln) c.205G>C (p.Glu69Gln) c.250G>C (p.Glu84Gln) | |
5 | g.161854270G= | CA1596215004 | GABRA1 | c.187G= (p.Glu63=) n.962G= c.*36G= (n.*36G=) c.232G= (p.Glu78=) c.205G= (p.Glu69=) c.250G= (p.Glu84=) | |
5 | g.161854270G>T | CA362181689 | GABRA1 | c.187G>T (p.Glu63Ter) n.962G>T c.*36G>T (n.*36G>T) c.232G>T (p.Glu78Ter) c.205G>T (p.Glu69Ter) c.250G>T (p.Glu84Ter) | |
5 | g.161854271G>A | CA362181690 | GABRA1 | c.187+1G>A (n.187+1G>A) n.962+1G>A c.*36+1G>A (n.*36+1G>A) c.232+1G>A (n.232+1G>A) c.205+1G>A (n.205+1G>A) c.250+1G>A (n.250+1G>A) | gnomAD v4 |
5 | g.161854271G>C | CA362181692 | GABRA1 | c.187+1G>C (n.187+1G>C) n.962+1G>C c.*36+1G>C (n.*36+1G>C) c.232+1G>C (n.232+1G>C) c.205+1G>C (n.205+1G>C) c.250+1G>C (n.250+1G>C) | |
5 | g.161854271G>T | CA362181691 | GABRA1 | c.187+1G>T (n.187+1G>T) n.962+1G>T c.*36+1G>T (n.*36+1G>T) c.232+1G>T (n.232+1G>T) c.205+1G>T (n.205+1G>T) c.250+1G>T (n.250+1G>T) | |
5 | g.161854272del | CA2578474533 | GABRA1 | c.187+2del (n.187+2del) n.962+2del c.*36+2del (n.*36+2del) c.232+2del (n.232+2del) c.205+2del (n.205+2del) c.250+2del (n.250+2del) | gnomAD v4 |
5 | g.161854272T>A | CA362181693 | GABRA1 | c.187+2T>A (n.187+2T>A) n.962+2T>A c.*36+2T>A (n.*36+2T>A) c.232+2T>A (n.232+2T>A) c.205+2T>A (n.205+2T>A) c.250+2T>A (n.250+2T>A) | |
5 | g.161854272T>C | CA362181695 | GABRA1 | c.187+2T>C (n.187+2T>C) n.962+2T>C c.*36+2T>C (n.*36+2T>C) c.232+2T>C (n.232+2T>C) c.205+2T>C (n.205+2T>C) c.250+2T>C (n.250+2T>C) | gnomAD v4 |
5 | g.161854272T>G | CA362181694 | GABRA1 | c.187+2T>G (n.187+2T>G) n.962+2T>G c.*36+2T>G (n.*36+2T>G) c.232+2T>G (n.232+2T>G) c.205+2T>G (n.205+2T>G) c.250+2T>G (n.250+2T>G) | |
5 | g.161854273A= | CA1596215009 | GABRA1 | c.187+3A= (n.187+3A=) n.962+3A= c.*36+3A= (n.*36+3A=) c.232+3A= (n.232+3A=) c.205+3A= (n.205+3A=) c.250+3A= (n.250+3A=) | |
5 | g.161854273A>G | CA3544349 | GABRA1 | c.187+3A>G (n.187+3A>G) n.962+3A>G c.*36+3A>G (n.*36+3A>G) c.232+3A>G (n.232+3A>G) c.205+3A>G (n.205+3A>G) c.250+3A>G (n.250+3A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
5 | g.161854274G>A | CA2676321564 | GABRA1 | c.187+4G>A (n.187+4G>A) n.962+4G>A c.*36+4G>A (n.*36+4G>A) c.232+4G>A (n.232+4G>A) c.205+4G>A (n.205+4G>A) c.250+4G>A (n.250+4G>A) | gnomAD v4 |
5 | g.161854275G>A | CA314690 | GABRA1 | c.187+5G>A (n.187+5G>A) n.962+5G>A c.*36+5G>A (n.*36+5G>A) c.232+5G>A (n.232+5G>A) c.205+5G>A (n.205+5G>A) c.250+5G>A (n.250+5G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854275G= | CA1596215015 | GABRA1 | c.187+5G= (n.187+5G=) n.962+5G= c.*36+5G= (n.*36+5G=) c.232+5G= (n.232+5G=) c.205+5G= (n.205+5G=) c.250+5G= (n.250+5G=) | |
5 | g.161854275G>T | CA3544350 | GABRA1 | c.187+5G>T (n.187+5G>T) n.962+5G>T c.*36+5G>T (n.*36+5G>T) c.232+5G>T (n.232+5G>T) c.205+5G>T (n.205+5G>T) c.250+5G>T (n.250+5G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854276T>C | CA2676321566 | GABRA1 | c.187+6T>C (n.187+6T>C) n.962+6T>C c.*36+6T>C (n.*36+6T>C) c.232+6T>C (n.232+6T>C) c.205+6T>C (n.205+6T>C) c.250+6T>C (n.250+6T>C) | gnomAD v4 |
5 | g.161854279_161854286dup | CA2573129671 | GABRA1 | c.187+9_187+16dup (n.187+9_187+16dup) n.962+9_962+16dup c.*36+9_*36+16dup (n.*36+9_*36+16dup) c.232+9_232+16dup (n.232+9_232+16dup) c.205+9_205+16dup (n.205+9_205+16dup) c.250+9_250+16dup (n.250+9_250+16dup) | |
5 | g.161854277T>C | CA2676321567 | GABRA1 | c.187+7T>C (n.187+7T>C) n.962+7T>C c.*36+7T>C (n.*36+7T>C) c.232+7T>C (n.232+7T>C) c.205+7T>C (n.205+7T>C) c.250+7T>C (n.250+7T>C) | gnomAD v4 |
5 | g.161854278G>A | CA2580073981 | GABRA1 | c.187+8G>A (n.187+8G>A) n.962+8G>A c.*36+8G>A (n.*36+8G>A) c.232+8G>A (n.232+8G>A) c.205+8G>A (n.205+8G>A) c.250+8G>A (n.250+8G>A) | ClinVar gnomAD v4 |
5 | g.161854279C>A | CA2676321570 | GABRA1 | c.187+9C>A (n.187+9C>A) n.962+9C>A c.*36+9C>A (n.*36+9C>A) c.232+9C>A (n.232+9C>A) c.205+9C>A (n.205+9C>A) c.250+9C>A (n.250+9C>A) | gnomAD v4 |
5 | g.161854279C= | CA1596215021 | GABRA1 | c.187+9C= (n.187+9C=) n.962+9C= c.*36+9C= (n.*36+9C=) c.232+9C= (n.232+9C=) c.205+9C= (n.205+9C=) c.250+9C= (n.250+9C=) | |
5 | g.161854279C>T | CA1083668123 | GABRA1 | c.187+9C>T (n.187+9C>T) n.962+9C>T c.*36+9C>T (n.*36+9C>T) c.232+9C>T (n.232+9C>T) c.205+9C>T (n.205+9C>T) c.250+9C>T (n.250+9C>T) | dbSNP gnomAD v3 gnomAD v4 |
5 | g.161854280A= | CA1596215022 | GABRA1 | c.187+10A= (n.187+10A=) n.962+10A= c.*36+10A= (n.*36+10A=) c.232+10A= (n.232+10A=) c.205+10A= (n.205+10A=) c.250+10A= (n.250+10A=) | |
5 | g.161854280A>C | CA3544351 | GABRA1 | c.187+10A>C (n.187+10A>C) n.962+10A>C c.*36+10A>C (n.*36+10A>C) c.232+10A>C (n.232+10A>C) c.205+10A>C (n.205+10A>C) c.250+10A>C (n.250+10A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
5 | g.161854280A>G | CA2578474534 | GABRA1 | c.187+10A>G (n.187+10A>G) n.962+10A>G c.*36+10A>G (n.*36+10A>G) c.232+10A>G (n.232+10A>G) c.205+10A>G (n.205+10A>G) c.250+10A>G (n.250+10A>G) | gnomAD v4 |