| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.113412637T>A | CA382649772 | DRD2 | c.1057A>T (p.Thr353Ser) c.970A>T (p.Thr324Ser) c.1063A>T (p.Thr355Ser) c.1054A>T (p.Thr352Ser) | |
| 11 | g.113412637T>C | CA382649774 | DRD2 | c.1057A>G (p.Thr353Ala) c.970A>G (p.Thr324Ala) c.1063A>G (p.Thr355Ala) c.1054A>G (p.Thr352Ala) | |
| 11 | g.113412637T>G | CA382649775 | DRD2 | c.1057A>C (p.Thr353Pro) c.970A>C (p.Thr324Pro) c.1063A>C (p.Thr355Pro) c.1054A>C (p.Thr352Pro) | |
| 11 | g.113412638C>A | CA477043075 | DRD2 | c.1056G>T (p.Arg352=) c.969G>T (p.Arg323=) c.1062G>T (p.Arg354=) c.1053G>T (p.Arg351=) | |
| 11 | g.113412638C>G | CA477043076 | DRD2 | c.1056G>C (p.Arg352=) c.969G>C (p.Arg323=) c.1062G>C (p.Arg354=) c.1053G>C (p.Arg351=) | |
| 11 | g.113412638C>T | CA477043074 | DRD2 | c.1056G>A (p.Arg352=) c.969G>A (p.Arg323=) c.1062G>A (p.Arg354=) c.1053G>A (p.Arg351=) | gnomAD v4 |
| 11 | g.113412639C>A | CA382649777 | DRD2 | c.1055G>T (p.Arg352Leu) c.968G>T (p.Arg323Leu) c.1061G>T (p.Arg354Leu) c.1052G>T (p.Arg351Leu) | dbSNP |
| 11 | g.113412639C= | CA2001167953 | DRD2 | c.1055G= (p.Arg352=) c.968G= (p.Arg323=) c.1061G= (p.Arg354=) c.1052G= (p.Arg351=) | |
| 11 | g.113412639C>G | CA382649779 | DRD2 | c.1055G>C (p.Arg352Pro) c.968G>C (p.Arg323Pro) c.1061G>C (p.Arg354Pro) c.1052G>C (p.Arg351Pro) | |
| 11 | g.113412639C>T | CA6281203 | DRD2 | c.1055G>A (p.Arg352Gln) c.968G>A (p.Arg323Gln) c.1061G>A (p.Arg354Gln) c.1052G>A (p.Arg351Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412640G>A | CA6281204 | DRD2 | c.1054C>T (p.Arg352Trp) c.967C>T (p.Arg323Trp) c.1060C>T (p.Arg354Trp) c.1051C>T (p.Arg351Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412640G>C | CA382649781 | DRD2 | c.1054C>G (p.Arg352Gly) c.967C>G (p.Arg323Gly) c.1060C>G (p.Arg354Gly) c.1051C>G (p.Arg351Gly) | |
| 11 | g.113412640G= | CA2001167954 | DRD2 | c.1054C= (p.Arg352=) c.967C= (p.Arg323=) c.1060C= (p.Arg354=) c.1051C= (p.Arg351=) | |
| 11 | g.113412640G>T | CA477043077 | DRD2 | c.1054C>A (p.Arg352=) c.967C>A (p.Arg323=) c.1060C>A (p.Arg354=) c.1051C>A (p.Arg351=) | |
| 11 | g.113412641G>A | CA477043078 | DRD2 | c.1053C>T (p.Thr351=) c.966C>T (p.Thr322=) c.1059C>T (p.Thr353=) c.1050C>T (p.Thr350=) | gnomAD v4 |
| 11 | g.113412641G>C | CA477043079 | DRD2 | c.1053C>G (p.Thr351=) c.966C>G (p.Thr322=) c.1059C>G (p.Thr353=) c.1050C>G (p.Thr350=) | |
| 11 | g.113412641G>T | CA477043080 | DRD2 | c.1053C>A (p.Thr351=) c.966C>A (p.Thr322=) c.1059C>A (p.Thr353=) c.1050C>A (p.Thr350=) | |
| 11 | g.113412642G>A | CA382649784 | DRD2 | c.1052C>T (p.Thr351Ile) c.965C>T (p.Thr322Ile) c.1058C>T (p.Thr353Ile) c.1049C>T (p.Thr350Ile) | gnomAD v4 |
| 11 | g.113412642G>C | CA382649785 | DRD2 | c.1052C>G (p.Thr351Ser) c.965C>G (p.Thr322Ser) c.1058C>G (p.Thr353Ser) c.1049C>G (p.Thr350Ser) | |
| 11 | g.113412642G>T | CA382649787 | DRD2 | c.1052C>A (p.Thr351Asn) c.965C>A (p.Thr322Asn) c.1058C>A (p.Thr353Asn) c.1049C>A (p.Thr350Asn) | |
| 11 | g.113412643T>A | CA382649791 | DRD2 | c.1051A>T (p.Thr351Ser) c.964A>T (p.Thr322Ser) c.1057A>T (p.Thr353Ser) c.1048A>T (p.Thr350Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.113412643T>C | CA228625616 | DRD2 | c.1051A>G (p.Thr351Ala) c.964A>G (p.Thr322Ala) c.1057A>G (p.Thr353Ala) c.1048A>G (p.Thr350Ala) | dbSNP |
| 11 | g.113412643T>G | CA382649790 | DRD2 | c.1051A>C (p.Thr351Pro) c.964A>C (p.Thr322Pro) c.1057A>C (p.Thr353Pro) c.1048A>C (p.Thr350Pro) | |
| 11 | g.113412643T= | CA2001167955 | DRD2 | c.1051A= (p.Thr351=) c.964A= (p.Thr322=) c.1057A= (p.Thr353=) c.1048A= (p.Thr350=) | |
| 11 | g.113412644T>A | CA382649794 | DRD2 | c.1050A>T (p.Lys350Asn) c.963A>T (p.Lys321Asn) c.1056A>T (p.Lys352Asn) c.1047A>T (p.Lys349Asn) | |
| 11 | g.113412644T>C | CA6281205 | DRD2 | c.1050A>G (p.Lys350=) c.963A>G (p.Lys321=) c.1056A>G (p.Lys352=) c.1047A>G (p.Lys349=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.113412644T>G | CA382649796 | DRD2 | c.1050A>C (p.Lys350Asn) c.963A>C (p.Lys321Asn) c.1056A>C (p.Lys352Asn) c.1047A>C (p.Lys349Asn) | |
| 11 | g.113412644T= | CA2001167956 | DRD2 | c.1050A= (p.Lys350=) c.963A= (p.Lys321=) c.1056A= (p.Lys352=) c.1047A= (p.Lys349=) | |
| 11 | g.113412645T>A | CA382649797 | DRD2 | c.1049A>T (p.Lys350Ile) c.962A>T (p.Lys321Ile) c.1055A>T (p.Lys352Ile) c.1046A>T (p.Lys349Ile) | |
| 11 | g.113412645T>C | CA382649798 | DRD2 | c.1049A>G (p.Lys350Arg) c.962A>G (p.Lys321Arg) c.1055A>G (p.Lys352Arg) c.1046A>G (p.Lys349Arg) | |
| 11 | g.113412645T>G | CA382649800 | DRD2 | c.1049A>C (p.Lys350Thr) c.962A>C (p.Lys321Thr) c.1055A>C (p.Lys352Thr) c.1046A>C (p.Lys349Thr) | |
| 11 | g.113412646T>A | CA382649802 | DRD2 | c.1048A>T (p.Lys350Ter) c.961A>T (p.Lys321Ter) c.1054A>T (p.Lys352Ter) c.1045A>T (p.Lys349Ter) | |
| 11 | g.113412646T>C | CA382649805 | DRD2 | c.1048A>G (p.Lys350Glu) c.961A>G (p.Lys321Glu) c.1054A>G (p.Lys352Glu) c.1045A>G (p.Lys349Glu) | |
| 11 | g.113412646T>G | CA382649803 | DRD2 | c.1048A>C (p.Lys350Gln) c.961A>C (p.Lys321Gln) c.1054A>C (p.Lys352Gln) c.1045A>C (p.Lys349Gln) | |
| 11 | g.113412647G>A | CA477043081 | DRD2 | c.1047C>T (p.Gly349=) c.960C>T (p.Gly320=) c.1053C>T (p.Gly351=) c.1044C>T (p.Gly348=) | |
| 11 | g.113412647G>C | CA477043082 | DRD2 | c.1047C>G (p.Gly349=) c.960C>G (p.Gly320=) c.1053C>G (p.Gly351=) c.1044C>G (p.Gly348=) | |
| 11 | g.113412647G= | CA2001167957 | DRD2 | c.1047C= (p.Gly349=) c.960C= (p.Gly320=) c.1053C= (p.Gly351=) c.1044C= (p.Gly348=) | |
| 11 | g.113412647G>T | CA477043083 | DRD2 | c.1047C>A (p.Gly349=) c.960C>A (p.Gly320=) c.1053C>A (p.Gly351=) c.1044C>A (p.Gly348=) | |
| 11 | g.113412648C>A | CA382649807 | DRD2 | c.1046G>T (p.Gly349Val) c.959G>T (p.Gly320Val) c.1052G>T (p.Gly351Val) c.1043G>T (p.Gly348Val) | |
| 11 | g.113412648C>G | CA382649808 | DRD2 | c.1046G>C (p.Gly349Ala) c.959G>C (p.Gly320Ala) c.1052G>C (p.Gly351Ala) c.1043G>C (p.Gly348Ala) | |
| 11 | g.113412648C>T | CA382649810 | DRD2 | c.1046G>A (p.Gly349Asp) c.959G>A (p.Gly320Asp) c.1052G>A (p.Gly351Asp) c.1043G>A (p.Gly348Asp) | |
| 11 | g.113412648_113412649dup | CA671865347 | DRD2 | c.1045_1046dup (p.Lys350AlafsTer10) c.958_959dup (p.Lys321AlafsTer10) c.1051_1052dup (p.Lys352AlafsTer10) c.1042_1043dup (p.Lys349AlafsTer10) | dbSNP |
| 11 | g.113412649C>A | CA382649813 | DRD2 | c.1045G>T (p.Gly349Cys) c.958G>T (p.Gly320Cys) c.1051G>T (p.Gly351Cys) c.1042G>T (p.Gly348Cys) | |
| 11 | g.113412649C>G | CA382649814 | DRD2 | c.1045G>C (p.Gly349Arg) c.958G>C (p.Gly320Arg) c.1051G>C (p.Gly351Arg) c.1042G>C (p.Gly348Arg) | |
| 11 | g.113412649C>T | CA382649816 | DRD2 | c.1045G>A (p.Gly349Ser) c.958G>A (p.Gly320Ser) c.1051G>A (p.Gly351Ser) c.1042G>A (p.Gly348Ser) | |
| 11 | g.113412650A>C | CA382649818 | DRD2 | c.1044T>G (p.Asn348Lys) c.957T>G (p.Asn319Lys) c.1050T>G (p.Asn350Lys) c.1041T>G (p.Asn347Lys) | |
| 11 | g.113412650A>G | CA477043084 | DRD2 | c.1044T>C (p.Asn348=) c.957T>C (p.Asn319=) c.1050T>C (p.Asn350=) c.1041T>C (p.Asn347=) | |
| 11 | g.113412650A>T | CA382649820 | DRD2 | c.1044T>A (p.Asn348Lys) c.957T>A (p.Asn319Lys) c.1050T>A (p.Asn350Lys) c.1041T>A (p.Asn347Lys) | |
| 11 | g.113412651T>A | CA382649822 | DRD2 | c.1043A>T (p.Asn348Ile) c.956A>T (p.Asn319Ile) c.1049A>T (p.Asn350Ile) c.1040A>T (p.Asn347Ile) | |
| 11 | g.113412651T>C | CA6281206 | DRD2 | c.1043A>G (p.Asn348Ser) c.956A>G (p.Asn319Ser) c.1049A>G (p.Asn350Ser) c.1040A>G (p.Asn347Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |