| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.161854177C>A | CA3544342 | GABRA1 | c.94C>A (p.Gln32Lys) n.869C>A c.156C>A (p.Tyr52Ter) c.139C>A (p.Gln47Lys) c.112C>A (p.Gln38Lys) c.157C>A (p.Gln53Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161854177C= | CA1596214918 | GABRA1 | c.94C= (p.Gln32=) n.869C= c.156C= (p.Tyr52=) c.139C= (p.Gln47=) c.112C= (p.Gln38=) c.157C= (p.Gln53=) | |
| 5 | g.161854177C>G | CA362181478 | GABRA1 | c.94C>G (p.Gln32Glu) n.869C>G c.156C>G (p.Tyr52Ter) c.139C>G (p.Gln47Glu) c.112C>G (p.Gln38Glu) c.157C>G (p.Gln53Glu) | |
| 5 | g.161854177C>T | CA211941 | GABRA1 | c.94C>T (p.Gln32Ter) n.869C>T c.156C>T (p.Tyr52=) c.139C>T (p.Gln47Ter) c.112C>T (p.Gln38Ter) c.157C>T (p.Gln53Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161854178A>C | CA362181479 | GABRA1 | c.95A>C (p.Gln32Pro) n.870A>C c.157A>C (p.Lys53Gln) c.140A>C (p.Gln47Pro) c.113A>C (p.Gln38Pro) c.158A>C (p.Gln53Pro) | |
| 5 | g.161854178A>G | CA362181481 | GABRA1 | c.95A>G (p.Gln32Arg) n.870A>G c.157A>G (p.Lys53Glu) c.140A>G (p.Gln47Arg) c.113A>G (p.Gln38Arg) c.158A>G (p.Gln53Arg) | |
| 5 | g.161854178A>T | CA362181480 | GABRA1 | c.95A>T (p.Gln32Leu) n.870A>T c.157A>T (p.Lys53Ter) c.140A>T (p.Gln47Leu) c.113A>T (p.Gln38Leu) c.158A>T (p.Gln53Leu) | |
| 5 | g.161854179A= | CA1596214922 | GABRA1 | c.96A= (p.Gln32=) n.871A= c.158A= (p.Lys53=) c.141A= (p.Gln47=) c.114A= (p.Gln38=) c.159A= (p.Gln53=) | |
| 5 | g.161854179A>C | CA362181482 | GABRA1 | c.96A>C (p.Gln32His) n.871A>C c.158A>C (p.Lys53Thr) c.141A>C (p.Gln47His) c.114A>C (p.Gln38His) c.159A>C (p.Gln53His) | |
| 5 | g.161854179A>G | CA152926 | GABRA1 | c.96A>G (p.Gln32=) n.871A>G c.158A>G (p.Lys53Arg) c.141A>G (p.Gln47=) c.114A>G (p.Gln38=) c.159A>G (p.Gln53=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.161854179A>T | CA362181483 | GABRA1 | c.96A>T (p.Gln32His) n.871A>T c.158A>T (p.Lys53Met) c.141A>T (p.Gln47His) c.114A>T (p.Gln38His) c.159A>T (p.Gln53His) | |
| 5 | g.161854180G>A | CA362181484 | GABRA1 | c.97G>A (p.Asp33Asn) n.872G>A c.159G>A (p.Lys53=) c.142G>A (p.Asp48Asn) c.115G>A (p.Asp39Asn) c.160G>A (p.Asp54Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.161854180G>C | CA362181485 | GABRA1 | c.97G>C (p.Asp33His) n.872G>C c.159G>C (p.Lys53Asn) c.142G>C (p.Asp48His) c.115G>C (p.Asp39His) c.160G>C (p.Asp54His) | gnomAD v4 |
| 5 | g.161854180G= | CA1596214924 | GABRA1 | c.97G= (p.Asp33=) n.872G= c.159G= (p.Lys53=) c.142G= (p.Asp48=) c.115G= (p.Asp39=) c.160G= (p.Asp54=) | |
| 5 | g.161854180G>T | CA362181486 | GABRA1 | c.97G>T (p.Asp33Tyr) n.872G>T c.159G>T (p.Lys53Asn) c.142G>T (p.Asp48Tyr) c.115G>T (p.Asp39Tyr) c.160G>T (p.Asp54Tyr) | |
| 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) |