| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962645A= | CA2396125227 | COMT | c.119A= (p.Glu40=) c.-32A= (n.-32A=) n.315A= c.233A= (p.Glu78=) c.530A= (p.Glu177=) | |
| 22 | g.19962645A>C | CA410688593 | COMT | c.119A>C (p.Glu40Ala) c.-32A>C (n.-32A>C) n.315A>C c.233A>C (p.Glu78Ala) c.530A>C (p.Glu177Ala) | |
| 22 | g.19962645A>G | CA410688594 | COMT | c.119A>G (p.Glu40Gly) c.-32A>G (n.-32A>G) n.315A>G c.233A>G (p.Glu78Gly) c.530A>G (p.Glu177Gly) | dbSNP |
| 22 | g.19962645A>T | CA410688595 | COMT | c.119A>T (p.Glu40Val) c.-32A>T (n.-32A>T) n.315A>T c.233A>T (p.Glu78Val) c.530A>T (p.Glu177Val) | |
| 22 | g.19962646G>A | CA513688418 | COMT | c.120G>A (p.Glu40=) c.-31G>A (n.-31G>A) n.316G>A c.234G>A (p.Glu78=) c.531G>A (p.Glu177=) | dbSNP gnomAD v4 |
| 22 | g.19962646G>C | CA410688596 | COMT | c.120G>C (p.Glu40Asp) c.-31G>C (n.-31G>C) n.316G>C c.234G>C (p.Glu78Asp) c.531G>C (p.Glu177Asp) | |
| 22 | g.19962646G= | CA2396125228 | COMT | c.120G= (p.Glu40=) c.-31G= (n.-31G=) n.316G= c.234G= (p.Glu78=) c.531G= (p.Glu177=) | |
| 22 | g.19962646G>T | CA410688597 | COMT | c.120G>T (p.Glu40Asp) c.-31G>T (n.-31G>T) n.316G>T c.234G>T (p.Glu78Asp) c.531G>T (p.Glu177Asp) | |
| 22 | g.19962647T>A | CA410688598 | COMT | c.121T>A (p.Phe41Ile) c.-30T>A (n.-30T>A) n.317T>A c.235T>A (p.Phe79Ile) c.532T>A (p.Phe178Ile) | |
| 22 | g.19962647T>C | CA410688599 | COMT | c.121T>C (p.Phe41Leu) c.-30T>C (n.-30T>C) n.317T>C c.235T>C (p.Phe79Leu) c.532T>C (p.Phe178Leu) | |
| 22 | g.19962647T>G | CA410688600 | COMT | c.121T>G (p.Phe41Val) c.-30T>G (n.-30T>G) n.317T>G c.235T>G (p.Phe79Val) c.532T>G (p.Phe178Val) | |
| 22 | g.19962648T>A | CA410688601 | COMT | c.122T>A (p.Phe41Tyr) c.-29T>A (n.-29T>A) n.318T>A c.236T>A (p.Phe79Tyr) c.533T>A (p.Phe178Tyr) | |
| 22 | g.19962648T>C | CA410688602 | COMT | c.122T>C (p.Phe41Ser) c.-29T>C (n.-29T>C) n.318T>C c.236T>C (p.Phe79Ser) c.533T>C (p.Phe178Ser) | |
| 22 | g.19962648T>G | CA410688603 | COMT | c.122T>G (p.Phe41Cys) c.-29T>G (n.-29T>G) n.318T>G c.236T>G (p.Phe79Cys) c.533T>G (p.Phe178Cys) | |
| 22 | g.19962649C>A | CA410688605 | COMT | c.123C>A (p.Phe41Leu) c.-28C>A (n.-28C>A) n.319C>A c.237C>A (p.Phe79Leu) c.534C>A (p.Phe178Leu) | |
| 22 | g.19962649C>G | CA410688604 | COMT | c.123C>G (p.Phe41Leu) c.-28C>G (n.-28C>G) n.319C>G c.237C>G (p.Phe79Leu) c.534C>G (p.Phe178Leu) | |
| 22 | g.19962649C>T | CA513688422 | COMT | c.123C>T (p.Phe41=) c.-28C>T (n.-28C>T) n.319C>T c.237C>T (p.Phe79=) c.534C>T (p.Phe178=) | |
| 22 | g.19962654_19962665del | CA2655332826 | COMT | c.128_139del (p.Leu43_Ile46del) c.-23_-12del (n.-23_-12del) n.324_335del c.242_253del (p.Leu81_Ile84del) c.539_550del (p.Leu180_Ile183del) | gnomAD v4 |
| 22 | g.19962650A>C | CA410688606 | COMT | c.124A>C (p.Ile42Leu) c.-27A>C (n.-27A>C) n.320A>C c.238A>C (p.Ile80Leu) c.535A>C (p.Ile179Leu) | |
| 22 | g.19962650A>G | CA410688608 | COMT | c.124A>G (p.Ile42Val) c.-27A>G (n.-27A>G) n.320A>G c.238A>G (p.Ile80Val) c.535A>G (p.Ile179Val) | dbSNP gnomAD v4 |
| 22 | g.19962650A>T | CA410688607 | COMT | c.124A>T (p.Ile42Phe) c.-27A>T (n.-27A>T) n.320A>T c.238A>T (p.Ile80Phe) c.535A>T (p.Ile179Phe) | |
| 22 | g.19962651T>A | CA410688609 | COMT | c.125T>A (p.Ile42Asn) c.-26T>A (n.-26T>A) n.321T>A c.239T>A (p.Ile80Asn) c.536T>A (p.Ile179Asn) | |
| 22 | g.19962651T>C | CA410688610 | COMT | c.125T>C (p.Ile42Thr) c.-26T>C (n.-26T>C) n.321T>C c.239T>C (p.Ile80Thr) c.536T>C (p.Ile179Thr) | |
| 22 | g.19962651T>G | CA410688611 | COMT | c.125T>G (p.Ile42Ser) c.-26T>G (n.-26T>G) n.321T>G c.239T>G (p.Ile80Ser) c.536T>G (p.Ile179Ser) | |
| 22 | g.19962652C>A | CA513688428 | COMT | c.126C>A (p.Ile42=) c.-25C>A (n.-25C>A) n.322C>A c.240C>A (p.Ile80=) c.537C>A (p.Ile179=) | |
| 22 | g.19962652C>G | CA410688612 | COMT | c.126C>G (p.Ile42Met) c.-25C>G (n.-25C>G) n.322C>G c.240C>G (p.Ile80Met) c.537C>G (p.Ile179Met) | |
| 22 | g.19962652C>T | CA513688427 | COMT | c.126C>T (p.Ile42=) c.-25C>T (n.-25C>T) n.322C>T c.240C>T (p.Ile80=) c.537C>T (p.Ile179=) | |
| 22 | g.19962653C>A | CA410688613 | COMT | c.127C>A (p.Leu43Met) c.-24C>A (n.-24C>A) n.323C>A c.241C>A (p.Leu81Met) c.538C>A (p.Leu180Met) | |
| 22 | g.19962653C>G | CA410688614 | COMT | c.127C>G (p.Leu43Val) c.-24C>G (n.-24C>G) n.323C>G c.241C>G (p.Leu81Val) c.538C>G (p.Leu180Val) | |
| 22 | g.19962653C>T | CA513688431 | COMT | c.127C>T (p.Leu43=) c.-24C>T (n.-24C>T) n.323C>T c.241C>T (p.Leu81=) c.538C>T (p.Leu180=) | |
| 22 | g.19962654T>A | CA410688615 | COMT | c.128T>A (p.Leu43Gln) c.-23T>A (n.-23T>A) n.324T>A c.242T>A (p.Leu81Gln) c.539T>A (p.Leu180Gln) | |
| 22 | g.19962654T>C | CA410688616 | COMT | c.128T>C (p.Leu43Pro) c.-23T>C (n.-23T>C) n.324T>C c.242T>C (p.Leu81Pro) c.539T>C (p.Leu180Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962654T>G | CA410688617 | COMT | c.128T>G (p.Leu43Arg) c.-23T>G (n.-23T>G) n.324T>G c.242T>G (p.Leu81Arg) c.539T>G (p.Leu180Arg) | |
| 22 | g.19962654T= | CA2396125229 | COMT | c.128T= (p.Leu43=) c.-23T= (n.-23T=) n.324T= c.242T= (p.Leu81=) c.539T= (p.Leu180=) | |
| 22 | g.19962655G>A | CA513688438 | COMT | c.129G>A (p.Leu43=) c.-22G>A (n.-22G>A) n.325G>A c.243G>A (p.Leu81=) c.540G>A (p.Leu180=) | |
| 22 | g.19962655G>C | CA513688437 | COMT | c.129G>C (p.Leu43=) c.-22G>C (n.-22G>C) n.325G>C c.243G>C (p.Leu81=) c.540G>C (p.Leu180=) | |
| 22 | g.19962655G>T | CA513688435 | COMT | c.129G>T (p.Leu43=) c.-22G>T (n.-22G>T) n.325G>T c.243G>T (p.Leu81=) c.540G>T (p.Leu180=) | |
| 22 | g.19962656C>A | CA410688618 | COMT | c.130C>A (p.Gln44Lys) c.-21C>A (n.-21C>A) n.326C>A c.244C>A (p.Gln82Lys) c.541C>A (p.Gln181Lys) | gnomAD v4 |
| 22 | g.19962656C>G | CA410688619 | COMT | c.130C>G (p.Gln44Glu) c.-21C>G (n.-21C>G) n.326C>G c.244C>G (p.Gln82Glu) c.541C>G (p.Gln181Glu) | |
| 22 | g.19962656C>T | CA410688620 | COMT | c.130C>T (p.Gln44Ter) c.-21C>T (n.-21C>T) n.326C>T c.244C>T (p.Gln82Ter) c.541C>T (p.Gln181Ter) | |
| 22 | g.19962657A>C | CA410688623 | COMT | c.131A>C (p.Gln44Pro) c.-20A>C (n.-20A>C) n.327A>C c.245A>C (p.Gln82Pro) c.542A>C (p.Gln181Pro) | |
| 22 | g.19962657A>G | CA410688621 | COMT | c.131A>G (p.Gln44Arg) c.-20A>G (n.-20A>G) n.327A>G c.245A>G (p.Gln82Arg) c.542A>G (p.Gln181Arg) | |
| 22 | g.19962657A>T | CA410688622 | COMT | c.131A>T (p.Gln44Leu) c.-20A>T (n.-20A>T) n.327A>T c.245A>T (p.Gln82Leu) c.542A>T (p.Gln181Leu) | |
| 22 | g.19962658G>A | CA513688445 | COMT | c.132G>A (p.Gln44=) c.-19G>A (n.-19G>A) n.328G>A c.246G>A (p.Gln82=) c.543G>A (p.Gln181=) | |
| 22 | g.19962658G>C | CA410688624 | COMT | c.132G>C (p.Gln44His) c.-19G>C (n.-19G>C) n.328G>C c.246G>C (p.Gln82His) c.543G>C (p.Gln181His) | |
| 22 | g.19962658G>T | CA410688625 | COMT | c.132G>T (p.Gln44His) c.-19G>T (n.-19G>T) n.328G>T c.246G>T (p.Gln82His) c.543G>T (p.Gln181His) | gnomAD v4 |
| 22 | g.19962659C>A | CA410688626 | COMT | c.133C>A (p.Pro45Thr) c.-18C>A (n.-18C>A) n.329C>A c.247C>A (p.Pro83Thr) c.544C>A (p.Pro182Thr) | |
| 22 | g.19962659C>G | CA410688627 | COMT | c.133C>G (p.Pro45Ala) c.-18C>G (n.-18C>G) n.329C>G c.247C>G (p.Pro83Ala) c.544C>G (p.Pro182Ala) | |
| 22 | g.19962659C>T | CA410688628 | COMT | c.133C>T (p.Pro45Ser) c.-18C>T (n.-18C>T) n.329C>T c.247C>T (p.Pro83Ser) c.544C>T (p.Pro182Ser) | |
| 22 | g.19962660C>A | CA410688629 | COMT | c.134C>A (p.Pro45His) c.-17C>A (n.-17C>A) n.330C>A c.248C>A (p.Pro83His) c.545C>A (p.Pro182His) |