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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962633T>A | CA410688570 | COMT | c.107T>A (p.Ile36Asn) c.-44T>A (n.-44T>A) n.303T>A c.221T>A (p.Ile74Asn) c.518T>A (p.Ile173Asn) | |
| 22 | g.19962633T>C | CA410688571 | COMT | c.107T>C (p.Ile36Thr) c.-44T>C (n.-44T>C) n.303T>C c.221T>C (p.Ile74Thr) c.518T>C (p.Ile173Thr) | |
| 22 | g.19962633T>G | CA410688572 | COMT | c.107T>G (p.Ile36Ser) c.-44T>G (n.-44T>G) n.303T>G c.221T>G (p.Ile74Ser) c.518T>G (p.Ile173Ser) | |
| 22 | g.19962634C>A | CA513688388 | COMT | c.108C>A (p.Ile36=) c.-43C>A (n.-43C>A) n.304C>A c.222C>A (p.Ile74=) c.519C>A (p.Ile173=) | |
| 22 | g.19962634C= | CA2396125219 | COMT | c.108C= (p.Ile36=) c.-43C= (n.-43C=) n.304C= c.222C= (p.Ile74=) c.519C= (p.Ile173=) | |
| 22 | g.19962634C>G | CA410688573 | COMT | c.108C>G (p.Ile36Met) c.-43C>G (n.-43C>G) n.304C>G c.222C>G (p.Ile74Met) c.519C>G (p.Ile173Met) | gnomAD v4 |
| 22 | g.19962634C>T | CA10104462 | COMT | c.108C>T (p.Ile36=) c.-43C>T (n.-43C>T) n.304C>T c.222C>T (p.Ile74=) c.519C>T (p.Ile173=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962634_19962635insTT | CA2655332815 | COMT | c.108_109insTT (p.Gly37LeufsTer25) c.-43_-42insTT (n.-43_-42insTT) n.304_305insTT c.222_223insTT (p.Gly75LeufsTer25) c.519_520insTT (p.Gly174LeufsTer25) | gnomAD v4 |
| 22 | g.19962635G>A | CA10104463 | COMT | c.109G>A (p.Gly37Ser) c.-42G>A (n.-42G>A) n.305G>A c.223G>A (p.Gly75Ser) c.520G>A (p.Gly174Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962635G>C | CA410688574 | COMT | c.109G>C (p.Gly37Arg) c.-42G>C (n.-42G>C) n.305G>C c.223G>C (p.Gly75Arg) c.520G>C (p.Gly174Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962635G= | CA2396125220 | COMT | c.109G= (p.Gly37=) c.-42G= (n.-42G=) n.305G= c.223G= (p.Gly75=) c.520G= (p.Gly174=) | |
| 22 | g.19962635G>T | CA410688575 | COMT | c.109G>T (p.Gly37Cys) c.-42G>T (n.-42G>T) n.305G>T c.223G>T (p.Gly75Cys) c.520G>T (p.Gly174Cys) | COSMIC |
| 22 | g.19962636G>A | CA410688576 | COMT | c.110G>A (p.Gly37Asp) c.-41G>A (n.-41G>A) n.306G>A c.224G>A (p.Gly75Asp) c.521G>A (p.Gly174Asp) | gnomAD v4 |
| 22 | g.19962636G>C | CA410688577 | COMT | c.110G>C (p.Gly37Ala) c.-41G>C (n.-41G>C) n.306G>C c.224G>C (p.Gly75Ala) c.521G>C (p.Gly174Ala) | |
| 22 | g.19962636G>T | CA410688578 | COMT | c.110G>T (p.Gly37Val) c.-41G>T (n.-41G>T) n.306G>T c.224G>T (p.Gly75Val) c.521G>T (p.Gly174Val) | gnomAD v4 |
| 22 | g.19962637C>A | CA513688399 | COMT | c.111C>A (p.Gly37=) c.-40C>A (n.-40C>A) n.307C>A c.225C>A (p.Gly75=) c.522C>A (p.Gly174=) | |
| 22 | g.19962637C= | CA2396125221 | COMT | c.111C= (p.Gly37=) c.-40C= (n.-40C=) n.307C= c.225C= (p.Gly75=) c.522C= (p.Gly174=) | |
| 22 | g.19962637C>G | CA513688398 | COMT | c.111C>G (p.Gly37=) c.-40C>G (n.-40C>G) n.307C>G c.225C>G (p.Gly75=) c.522C>G (p.Gly174=) | |
| 22 | g.19962637C>T | CA10104464 | COMT | c.111C>T (p.Gly37=) c.-40C>T (n.-40C>T) n.307C>T c.225C>T (p.Gly75=) c.522C>T (p.Gly174=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962638T>A | CA410688580 | COMT | c.112T>A (p.Trp38Arg) c.-39T>A (n.-39T>A) n.308T>A c.226T>A (p.Trp76Arg) c.523T>A (p.Trp175Arg) | |
| 22 | g.19962638T>C | CA410688581 | COMT | c.112T>C (p.Trp38Arg) c.-39T>C (n.-39T>C) n.308T>C c.226T>C (p.Trp76Arg) c.523T>C (p.Trp175Arg) | gnomAD v4 |
| 22 | g.19962638T>G | CA410688579 | COMT | c.112T>G (p.Trp38Gly) c.-39T>G (n.-39T>G) n.308T>G c.226T>G (p.Trp76Gly) c.523T>G (p.Trp175Gly) | |
| 22 | g.19962639G>A | CA10104465 | COMT | c.113G>A (p.Trp38Ter) c.-38G>A (n.-38G>A) n.309G>A c.227G>A (p.Trp76Ter) c.524G>A (p.Trp175Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962639G>C | CA410688582 | COMT | c.113G>C (p.Trp38Ser) c.-38G>C (n.-38G>C) n.309G>C c.227G>C (p.Trp76Ser) c.524G>C (p.Trp175Ser) | |
| 22 | g.19962639G= | CA2396125222 | COMT | c.113G= (p.Trp38=) c.-38G= (n.-38G=) n.309G= c.227G= (p.Trp76=) c.524G= (p.Trp175=) | |
| 22 | g.19962639G>T | CA410688583 | COMT | c.113G>T (p.Trp38Leu) c.-38G>T (n.-38G>T) n.309G>T c.227G>T (p.Trp76Leu) c.524G>T (p.Trp175Leu) | |
| 22 | g.19962640G>A | CA410688584 | COMT | c.114G>A (p.Trp38Ter) c.-37G>A (n.-37G>A) n.310G>A c.228G>A (p.Trp76Ter) c.525G>A (p.Trp175Ter) | |
| 22 | g.19962640G>C | CA410688585 | COMT | c.114G>C (p.Trp38Cys) c.-37G>C (n.-37G>C) n.310G>C c.228G>C (p.Trp76Cys) c.525G>C (p.Trp175Cys) | |
| 22 | g.19962640G>T | CA410688586 | COMT | c.114G>T (p.Trp38Cys) c.-37G>T (n.-37G>T) n.310G>T c.228G>T (p.Trp76Cys) c.525G>T (p.Trp175Cys) | |
| 22 | g.19962641A= | CA2396125223 | COMT | c.115A= (p.Asn39=) c.-36A= (n.-36A=) n.311A= c.229A= (p.Asn77=) c.526A= (p.Asn176=) | |
| 22 | g.19962641A>C | CA410688587 | COMT | c.115A>C (p.Asn39His) c.-36A>C (n.-36A>C) n.311A>C c.229A>C (p.Asn77His) c.526A>C (p.Asn176His) | |
| 22 | g.19962641A>G | CA10104466 | COMT | c.115A>G (p.Asn39Asp) c.-36A>G (n.-36A>G) n.311A>G c.229A>G (p.Asn77Asp) c.526A>G (p.Asn176Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.19962641A>T | CA410688588 | COMT | c.115A>T (p.Asn39Tyr) c.-36A>T (n.-36A>T) n.311A>T c.229A>T (p.Asn77Tyr) c.526A>T (p.Asn176Tyr) | |
| 22 | g.19962642A= | CA2396125224 | COMT | c.116A= (p.Asn39=) c.-35A= (n.-35A=) n.312A= c.230A= (p.Asn77=) c.527A= (p.Asn176=) | |
| 22 | g.19962642A>C | CA410688589 | COMT | c.116A>C (p.Asn39Thr) c.-35A>C (n.-35A>C) n.312A>C c.230A>C (p.Asn77Thr) c.527A>C (p.Asn176Thr) | |
| 22 | g.19962642A>G | CA10104467 | COMT | c.116A>G (p.Asn39Ser) c.-35A>G (n.-35A>G) n.312A>G c.230A>G (p.Asn77Ser) c.527A>G (p.Asn176Ser) | dbSNP ExAC gnomAD v2 |
| 22 | g.19962642A>T | CA410688590 | COMT | c.116A>T (p.Asn39Ile) c.-35A>T (n.-35A>T) n.312A>T c.230A>T (p.Asn77Ile) c.527A>T (p.Asn176Ile) | |
| 22 | g.19962643C>A | CA10104470 | COMT | c.117C>A (p.Asn39Lys) c.-34C>A (n.-34C>A) n.313C>A c.231C>A (p.Asn77Lys) c.528C>A (p.Asn176Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962643C= | CA2396125225 | COMT | c.117C= (p.Asn39=) c.-34C= (n.-34C=) n.313C= c.231C= (p.Asn77=) c.528C= (p.Asn176=) | |
| 22 | g.19962643C>G | CA10104469 | COMT | c.117C>G (p.Asn39Lys) c.-34C>G (n.-34C>G) n.313C>G c.231C>G (p.Asn77Lys) c.528C>G (p.Asn176Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962643C>T | CA10104468 | COMT | c.117C>T (p.Asn39=) c.-34C>T (n.-34C>T) n.313C>T c.231C>T (p.Asn77=) c.528C>T (p.Asn176=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962644G>A | CA322120797 | COMT | c.118G>A (p.Glu40Lys) c.-33G>A (n.-33G>A) n.314G>A c.232G>A (p.Glu78Lys) c.529G>A (p.Glu177Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962644G>C | CA410688591 | COMT | c.118G>C (p.Glu40Gln) c.-33G>C (n.-33G>C) n.314G>C c.232G>C (p.Glu78Gln) c.529G>C (p.Glu177Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962644G= | CA2396125226 | COMT | c.118G= (p.Glu40=) c.-33G= (n.-33G=) n.314G= c.232G= (p.Glu78=) c.529G= (p.Glu177=) | |
| 22 | g.19962644G>T | CA410688592 | COMT | c.118G>T (p.Glu40Ter) c.-33G>T (n.-33G>T) n.314G>T c.232G>T (p.Glu78Ter) c.529G>T (p.Glu177Ter) | gnomAD v4 |
| 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) | |
| 22 | g.19962660C>G | CA410688630 | COMT | c.134C>G (p.Pro45Arg) c.-17C>G (n.-17C>G) n.330C>G c.248C>G (p.Pro83Arg) c.545C>G (p.Pro182Arg) | |
| 22 | g.19962660C>T | CA410688631 | COMT | c.134C>T (p.Pro45Leu) c.-17C>T (n.-17C>T) n.330C>T c.248C>T (p.Pro83Leu) c.545C>T (p.Pro182Leu) | |
| 22 | g.19962661C>A | CA513688450 | COMT | c.135C>A (p.Pro45=) c.-16C>A (n.-16C>A) n.331C>A c.249C>A (p.Pro83=) c.546C>A (p.Pro182=) | |
| 22 | g.19962661C>G | CA513688449 | COMT | c.135C>G (p.Pro45=) c.-16C>G (n.-16C>G) n.331C>G c.249C>G (p.Pro83=) c.546C>G (p.Pro182=) | |
| 22 | g.19962661C>T | CA513688448 | COMT | c.135C>T (p.Pro45=) c.-16C>T (n.-16C>T) n.331C>T c.249C>T (p.Pro83=) c.546C>T (p.Pro182=) | gnomAD v4 |
| 22 | g.19962662A>C | CA410688632 | COMT | c.136A>C (p.Ile46Leu) c.-15A>C (n.-15A>C) n.332A>C c.250A>C (p.Ile84Leu) c.547A>C (p.Ile183Leu) | |
| 22 | g.19962662A>G | CA410688633 | COMT | c.136A>G (p.Ile46Val) c.-15A>G (n.-15A>G) n.332A>G c.250A>G (p.Ile84Val) c.547A>G (p.Ile183Val) | gnomAD v4 |
| 22 | g.19962662A>T | CA410688634 | COMT | c.136A>T (p.Ile46Phe) c.-15A>T (n.-15A>T) n.332A>T c.250A>T (p.Ile84Phe) c.547A>T (p.Ile183Phe) | |
| 22 | g.19962663T>A | CA10104471 | COMT | c.137T>A (p.Ile46Asn) c.-14T>A (n.-14T>A) n.333T>A c.251T>A (p.Ile84Asn) c.548T>A (p.Ile183Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962663T>C | CA410688636 | COMT | c.137T>C (p.Ile46Thr) c.-14T>C (n.-14T>C) n.333T>C c.251T>C (p.Ile84Thr) c.548T>C (p.Ile183Thr) | |
| 22 | g.19962663T>G | CA410688635 | COMT | c.137T>G (p.Ile46Ser) c.-14T>G (n.-14T>G) n.333T>G c.251T>G (p.Ile84Ser) c.548T>G (p.Ile183Ser) | dbSNP gnomAD v4 |
| 22 | g.19962663T= | CA2396125230 | COMT | c.137T= (p.Ile46=) c.-14T= (n.-14T=) n.333T= c.251T= (p.Ile84=) c.548T= (p.Ile183=) | |
| 22 | g.19962664C>A | CA513688457 | COMT | c.138C>A (p.Ile46=) c.-13C>A (n.-13C>A) n.334C>A c.252C>A (p.Ile84=) c.549C>A (p.Ile183=) | |
| 22 | g.19962664C= | CA2396125231 | COMT | c.138C= (p.Ile46=) c.-13C= (n.-13C=) n.334C= c.252C= (p.Ile84=) c.549C= (p.Ile183=) | |
| 22 | g.19962664C>G | CA410688637 | COMT | c.138C>G (p.Ile46Met) c.-13C>G (n.-13C>G) n.334C>G c.252C>G (p.Ile84Met) c.549C>G (p.Ile183Met) | |
| 22 | g.19962664C>T | CA513688456 | COMT | c.138C>T (p.Ile46=) c.-13C>T (n.-13C>T) n.334C>T c.252C>T (p.Ile84=) c.549C>T (p.Ile183=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962665C>A | CA410688638 | COMT | c.139C>A (p.His47Asn) c.-12C>A (n.-12C>A) n.335C>A c.253C>A (p.His85Asn) c.550C>A (p.His184Asn) | |
| 22 | g.19962665C>G | CA410688639 | COMT | c.139C>G (p.His47Asp) c.-12C>G (n.-12C>G) n.335C>G c.253C>G (p.His85Asp) c.550C>G (p.His184Asp) | |
| 22 | g.19962665C>T | CA410688640 | COMT | c.139C>T (p.His47Tyr) c.-12C>T (n.-12C>T) n.335C>T c.253C>T (p.His85Tyr) c.550C>T (p.His184Tyr) | |
| 22 | g.19962666A>C | CA410688641 | COMT | c.140A>C (p.His47Pro) c.-11A>C (n.-11A>C) n.336A>C c.254A>C (p.His85Pro) c.551A>C (p.His184Pro) | gnomAD v4 |
| 22 | g.19962666A>G | CA410688642 | COMT | c.140A>G (p.His47Arg) c.-11A>G (n.-11A>G) n.336A>G c.254A>G (p.His85Arg) c.551A>G (p.His184Arg) | |
| 22 | g.19962666A>T | CA410688643 | COMT | c.140A>T (p.His47Leu) c.-11A>T (n.-11A>T) n.336A>T c.254A>T (p.His85Leu) c.551A>T (p.His184Leu) | |
| 22 | g.19962667C>A | CA410688644 | COMT | c.141C>A (p.His47Gln) c.-10C>A (n.-10C>A) n.337C>A c.255C>A (p.His85Gln) c.552C>A (p.His184Gln) | gnomAD v4 |
| 22 | g.19962667C>G | CA410688645 | COMT | c.141C>G (p.His47Gln) c.-10C>G (n.-10C>G) n.337C>G c.255C>G (p.His85Gln) c.552C>G (p.His184Gln) | |
| 22 | g.19962667C>T | CA513688461 | COMT | c.141C>T (p.His47=) c.-10C>T (n.-10C>T) n.337C>T c.255C>T (p.His85=) c.552C>T (p.His184=) | |
| 22 | g.19962668A>C | CA410688646 | COMT | c.142A>C (p.Asn48His) c.-9A>C (n.-9A>C) n.338A>C c.256A>C (p.Asn86His) c.553A>C (p.Asn185His) | |
| 22 | g.19962668A>G | CA410688647 | COMT | c.142A>G (p.Asn48Asp) c.-9A>G (n.-9A>G) n.338A>G c.256A>G (p.Asn86Asp) c.553A>G (p.Asn185Asp) | |
| 22 | g.19962668A>T | CA410688648 | COMT | c.142A>T (p.Asn48Tyr) c.-9A>T (n.-9A>T) n.338A>T c.256A>T (p.Asn86Tyr) c.553A>T (p.Asn185Tyr) | |
| 22 | g.19962669A>C | CA410688650 | COMT | c.143A>C (p.Asn48Thr) c.-8A>C (n.-8A>C) n.339A>C c.257A>C (p.Asn86Thr) c.554A>C (p.Asn185Thr) | |
| 22 | g.19962669A>G | CA410688651 | COMT | c.143A>G (p.Asn48Ser) c.-8A>G (n.-8A>G) n.339A>G c.257A>G (p.Asn86Ser) c.554A>G (p.Asn185Ser) | |
| 22 | g.19962669A>T | CA410688649 | COMT | c.143A>T (p.Asn48Ile) c.-8A>T (n.-8A>T) n.339A>T c.257A>T (p.Asn86Ile) c.554A>T (p.Asn185Ile) | |
| 22 | g.19962670C>A | CA410688652 | COMT | c.144C>A (p.Asn48Lys) c.-7C>A (n.-7C>A) n.340C>A c.258C>A (p.Asn86Lys) c.555C>A (p.Asn185Lys) | |
| 22 | g.19962670C>G | CA410688653 | COMT | c.144C>G (p.Asn48Lys) c.-7C>G (n.-7C>G) n.340C>G c.258C>G (p.Asn86Lys) c.555C>G (p.Asn185Lys) | |
| 22 | g.19962670C>T | CA513688466 | COMT | c.144C>T (p.Asn48=) c.-7C>T (n.-7C>T) n.340C>T c.258C>T (p.Asn86=) c.555C>T (p.Asn185=) | |
| 22 | g.19962671C>A | CA410688654 | COMT | c.145C>A (p.Leu49Met) c.-6C>A (n.-6C>A) n.341C>A c.259C>A (p.Leu87Met) c.556C>A (p.Leu186Met) | |
| 22 | g.19962671C= | CA2396125232 | COMT | c.145C= (p.Leu49=) c.-6C= (n.-6C=) n.341C= c.259C= (p.Leu87=) c.556C= (p.Leu186=) | |
| 22 | g.19962671C>G | CA410688655 | COMT | c.145C>G (p.Leu49Val) c.-6C>G (n.-6C>G) n.341C>G c.259C>G (p.Leu87Val) c.556C>G (p.Leu186Val) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962671C>T | CA513688472 | COMT | c.145C>T (p.Leu49=) c.-6C>T (n.-6C>T) n.341C>T c.259C>T (p.Leu87=) c.556C>T (p.Leu186=) | gnomAD v4 |
| 22 | g.19962672T>A | CA410688656 | COMT | c.146T>A (p.Leu49Gln) c.-5T>A (n.-5T>A) n.342T>A c.260T>A (p.Leu87Gln) c.557T>A (p.Leu186Gln) | |
| 22 | g.19962672T>C | CA410688657 | COMT | c.146T>C (p.Leu49Pro) c.-5T>C (n.-5T>C) n.342T>C c.260T>C (p.Leu87Pro) c.557T>C (p.Leu186Pro) | |
| 22 | g.19962672T>G | CA410688658 | COMT | c.146T>G (p.Leu49Arg) c.-5T>G (n.-5T>G) n.342T>G c.260T>G (p.Leu87Arg) c.557T>G (p.Leu186Arg) | |
| 22 | g.19962673G>A | CA513688481 | COMT | c.147G>A (p.Leu49=) c.-4G>A (n.-4G>A) n.343G>A c.261G>A (p.Leu87=) c.558G>A (p.Leu186=) | gnomAD v4 |
| 22 | g.19962673G>C | CA513688479 | COMT | c.147G>C (p.Leu49=) c.-4G>C (n.-4G>C) n.343G>C c.261G>C (p.Leu87=) c.558G>C (p.Leu186=) | |
| 22 | g.19962673G>T | CA513688476 | COMT | c.147G>T (p.Leu49=) c.-4G>T (n.-4G>T) n.343G>T c.261G>T (p.Leu87=) c.558G>T (p.Leu186=) | |
| 22 | g.19962674C>A | CA410688659 | COMT | c.148C>A (p.Leu50Ile) c.-3C>A (n.-3C>A) n.344C>A c.262C>A (p.Leu88Ile) c.559C>A (p.Leu187Ile) | |
| 22 | g.19962674C>G | CA410688661 | COMT | c.148C>G (p.Leu50Val) c.-3C>G (n.-3C>G) n.344C>G c.262C>G (p.Leu88Val) c.559C>G (p.Leu187Val) | |
| 22 | g.19962674C>T | CA410688660 | COMT | c.148C>T (p.Leu50Phe) c.-3C>T (n.-3C>T) n.344C>T c.262C>T (p.Leu88Phe) c.559C>T (p.Leu187Phe) | dbSNP gnomAD v4 |
| 22 | g.19962675T>A | CA410688662 | COMT | c.149T>A (p.Leu50His) c.-2T>A (n.-2T>A) n.345T>A c.263T>A (p.Leu88His) c.560T>A (p.Leu187His) | |
| 22 | g.19962675T>C | CA410688663 | COMT | c.149T>C (p.Leu50Pro) c.-2T>C (n.-2T>C) n.345T>C c.263T>C (p.Leu88Pro) c.560T>C (p.Leu187Pro) | |
| 22 | g.19962675T>G | CA410688664 | COMT | c.149T>G (p.Leu50Arg) c.-2T>G (n.-2T>G) n.345T>G c.263T>G (p.Leu88Arg) c.560T>G (p.Leu187Arg) | |
| 22 | g.19962675T= | CA2396125233 | COMT | c.149T= (p.Leu50=) c.-2T= (n.-2T=) n.345T= c.263T= (p.Leu88=) c.560T= (p.Leu187=) | |
| 22 | g.19962675_19962676insA | CA920337038 | COMT | c.149_150insA (p.Met51HisfsTer3) c.-2_-1insA (n.-2_-1insA) n.345_346insA c.263_264insA (p.Met89HisfsTer3) c.560_561insA (p.Met188HisfsTer3) | dbSNP |
| 22 | g.19962676C>A | CA513688486 | COMT | c.150C>A (p.Leu50=) c.-1C>A (n.-1C>A) n.346C>A c.264C>A (p.Leu88=) c.561C>A (p.Leu187=) | dbSNP |
| 22 | g.19962676C= | CA2396125234 | COMT | c.150C= (p.Leu50=) c.-1C= (n.-1C=) n.346C= c.264C= (p.Leu88=) c.561C= (p.Leu187=) | |
| 22 | g.19962676C>G | CA10104472 | COMT | c.150C>G (p.Leu50=) c.-1C>G (n.-1C>G) n.346C>G c.264C>G (p.Leu88=) c.561C>G (p.Leu187=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962676C>T | CA513688484 | COMT | c.150C>T (p.Leu50=) c.-1C>T (n.-1C>T) n.346C>T c.264C>T (p.Leu88=) c.561C>T (p.Leu187=) | gnomAD v4 |
| 22 | g.19962677A>C | CA410688667 | COMT | c.151A>C (p.Met51Leu) c.1A>C (p.Met1Leu) n.347A>C c.265A>C (p.Met89Leu) c.562A>C (p.Met188Leu) | |
| 22 | g.19962677A>G | CA410688666 | COMT | c.151A>G (p.Met51Val) c.1A>G (p.Met1Val) n.347A>G c.265A>G (p.Met89Val) c.562A>G (p.Met188Val) | |
| 22 | g.19962677A>T | CA410688665 | COMT | c.151A>T (p.Met51Leu) c.1A>T (p.Met1Leu) n.347A>T c.265A>T (p.Met89Leu) c.562A>T (p.Met188Leu) | |
| 22 | g.19962678T>A | CA410688668 | COMT | c.152T>A (p.Met51Lys) c.2T>A (p.Met1Lys) n.348T>A c.266T>A (p.Met89Lys) c.563T>A (p.Met188Lys) | |
| 22 | g.19962678T>C | CA322120800 | COMT | c.152T>C (p.Met51Thr) c.2T>C (p.Met1Thr) n.348T>C c.266T>C (p.Met89Thr) c.563T>C (p.Met188Thr) | dbSNP gnomAD v4 |
| 22 | g.19962678T>G | CA410688669 | COMT | c.152T>G (p.Met51Arg) c.2T>G (p.Met1Arg) n.348T>G c.266T>G (p.Met89Arg) c.563T>G (p.Met188Arg) | |
| 22 | g.19962678T= | CA2396125235 | COMT | c.152T= (p.Met51=) c.2T= (p.Met1=) n.348T= c.266T= (p.Met89=) c.563T= (p.Met188=) | |
| 22 | g.19962679G>A | CA410688670 | COMT | c.153G>A (p.Met51Ile) c.3G>A (p.Met1Ile) n.1G>A n.349G>A c.267G>A (p.Met89Ile) c.564G>A (p.Met188Ile) | gnomAD v4 |
| 22 | g.19962679G>C | CA410688672 | COMT | c.153G>C (p.Met51Ile) c.3G>C (p.Met1Ile) n.1G>C n.349G>C c.267G>C (p.Met89Ile) c.564G>C (p.Met188Ile) | |
| 22 | g.19962679G>T | CA410688671 | COMT | c.153G>T (p.Met51Ile) c.3G>T (p.Met1Ile) n.1G>T n.349G>T c.267G>T (p.Met89Ile) c.564G>T (p.Met188Ile) | gnomAD v4 |
| 22 | g.19962679_19962821del | CA1024175389 | COMT | c.153_289+6del c.3_139+6del n.1_137+6del n.349_491del c.267_403+6del c.564_700+6del | gnomAD v3 gnomAD v4 |
| 22 | g.19962680G>A | CA410688673 | COMT | c.154G>A (p.Gly52Ser) c.4G>A (p.Gly2Ser) n.2G>A n.350G>A c.268G>A (p.Gly90Ser) c.565G>A (p.Gly189Ser) | |
| 22 | g.19962680G>C | CA410688674 | COMT | c.154G>C (p.Gly52Arg) c.4G>C (p.Gly2Arg) n.2G>C n.350G>C c.268G>C (p.Gly90Arg) c.565G>C (p.Gly189Arg) | |
| 22 | g.19962680G>T | CA410688675 | COMT | c.154G>T (p.Gly52Cys) c.4G>T (p.Gly2Cys) n.2G>T n.350G>T c.268G>T (p.Gly90Cys) c.565G>T (p.Gly189Cys) | |
| 22 | g.19962681G>A | CA410688676 | COMT | c.155G>A (p.Gly52Asp) c.5G>A (p.Gly2Asp) n.3G>A n.351G>A c.269G>A (p.Gly90Asp) c.566G>A (p.Gly189Asp) | dbSNP |
| 22 | g.19962681G>C | CA410688677 | COMT | c.155G>C (p.Gly52Ala) c.5G>C (p.Gly2Ala) n.3G>C n.351G>C c.269G>C (p.Gly90Ala) c.566G>C (p.Gly189Ala) | |
| 22 | g.19962681G= | CA2396125236 | COMT | c.155G= (p.Gly52=) c.5G= (p.Gly2=) n.3G= n.351G= c.269G= (p.Gly90=) c.566G= (p.Gly189=) | |
| 22 | g.19962681G>T | CA410688678 | COMT | c.155G>T (p.Gly52Val) c.5G>T (p.Gly2Val) n.3G>T n.351G>T c.269G>T (p.Gly90Val) c.566G>T (p.Gly189Val) | |
| 22 | g.19962682T>A | CA513688497 | COMT | c.156T>A (p.Gly52=) c.6T>A (p.Gly2=) n.4T>A n.352T>A c.270T>A (p.Gly90=) c.567T>A (p.Gly189=) | |
| 22 | g.19962682T>C | CA10104473 | COMT | c.156T>C (p.Gly52=) c.6T>C (p.Gly2=) n.4T>C n.352T>C c.270T>C (p.Gly90=) c.567T>C (p.Gly189=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962682T>G | CA513688496 | COMT | c.156T>G (p.Gly52=) c.6T>G (p.Gly2=) n.4T>G n.352T>G c.270T>G (p.Gly90=) c.567T>G (p.Gly189=) | |
| 22 | g.19962682T= | CA2396125237 | COMT | c.156T= (p.Gly52=) c.6T= (p.Gly2=) n.4T= n.352T= c.270T= (p.Gly90=) c.567T= (p.Gly189=) | |
| 22 | g.19962683G>A | CA410688681 | COMT | c.157G>A (p.Asp53Asn) c.7G>A (p.Asp3Asn) n.5G>A n.353G>A c.271G>A (p.Asp91Asn) c.568G>A (p.Asp190Asn) | gnomAD v4 COSMIC |
| 22 | g.19962683G>C | CA410688679 | COMT | c.157G>C (p.Asp53His) c.7G>C (p.Asp3His) n.5G>C n.353G>C c.271G>C (p.Asp91His) c.568G>C (p.Asp190His) | |
| 22 | g.19962683G>T | CA410688680 | COMT | c.157G>T (p.Asp53Tyr) c.7G>T (p.Asp3Tyr) n.5G>T n.353G>T c.271G>T (p.Asp91Tyr) c.568G>T (p.Asp190Tyr) | |
| 22 | g.19962684A>C | CA410688682 | COMT | c.158A>C (p.Asp53Ala) c.8A>C (p.Asp3Ala) n.6A>C n.354A>C c.272A>C (p.Asp91Ala) c.569A>C (p.Asp190Ala) | |
| 22 | g.19962684A>G | CA410688683 | COMT | c.158A>G (p.Asp53Gly) c.8A>G (p.Asp3Gly) n.6A>G n.354A>G c.272A>G (p.Asp91Gly) c.569A>G (p.Asp190Gly) | |
| 22 | g.19962684A>T | CA410688684 | COMT | c.158A>T (p.Asp53Val) c.8A>T (p.Asp3Val) n.6A>T n.354A>T c.272A>T (p.Asp91Val) c.569A>T (p.Asp190Val) | |
| 22 | g.19962685C>A | CA410688685 | COMT | c.159C>A (p.Asp53Glu) c.9C>A (p.Asp3Glu) n.7C>A n.355C>A c.273C>A (p.Asp91Glu) c.570C>A (p.Asp190Glu) | |
| 22 | g.19962685C>G | CA410688686 | COMT | c.159C>G (p.Asp53Glu) c.9C>G (p.Asp3Glu) n.7C>G n.355C>G c.273C>G (p.Asp91Glu) c.570C>G (p.Asp190Glu) | |
| 22 | g.19962685C>T | CA513687857 | COMT | c.159C>T (p.Asp53=) c.9C>T (p.Asp3=) n.7C>T n.355C>T c.273C>T (p.Asp91=) c.570C>T (p.Asp190=) | |
| 22 | g.19962686A= | CA2396125238 | COMT | c.160A= (p.Thr54=) c.10A= (p.Thr4=) n.8A= n.356A= c.274A= (p.Thr92=) c.571A= (p.Thr191=) | |
| 22 | g.19962686A>C | CA410688687 | COMT | c.160A>C (p.Thr54Pro) c.10A>C (p.Thr4Pro) n.8A>C n.356A>C c.274A>C (p.Thr92Pro) c.571A>C (p.Thr191Pro) | |
| 22 | g.19962686A>G | CA410688689 | COMT | c.160A>G (p.Thr54Ala) c.10A>G (p.Thr4Ala) n.8A>G n.356A>G c.274A>G (p.Thr92Ala) c.571A>G (p.Thr191Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962686A>T | CA410688688 | COMT | c.160A>T (p.Thr54Ser) c.10A>T (p.Thr4Ser) n.8A>T n.356A>T c.274A>T (p.Thr92Ser) c.571A>T (p.Thr191Ser) | |
| 22 | g.19962687C>A | CA410688690 | COMT | c.161C>A (p.Thr54Asn) c.11C>A (p.Thr4Asn) n.9C>A n.357C>A c.275C>A (p.Thr92Asn) c.572C>A (p.Thr191Asn) | gnomAD v4 |
| 22 | g.19962687C= | CA2396125239 | COMT | c.161C= (p.Thr54=) c.11C= (p.Thr4=) n.9C= n.357C= c.275C= (p.Thr92=) c.572C= (p.Thr191=) | |
| 22 | g.19962687C>G | CA410688691 | COMT | c.161C>G (p.Thr54Ser) c.11C>G (p.Thr4Ser) n.9C>G n.357C>G c.275C>G (p.Thr92Ser) c.572C>G (p.Thr191Ser) | dbSNP |
| 22 | g.19962687C>T | CA410688692 | COMT | c.161C>T (p.Thr54Ile) c.11C>T (p.Thr4Ile) n.9C>T n.357C>T c.275C>T (p.Thr92Ile) c.572C>T (p.Thr191Ile) | |
| 22 | g.19962688C>A | CA513687861 | COMT | c.162C>A (p.Thr54=) c.12C>A (p.Thr4=) n.10C>A n.358C>A c.276C>A (p.Thr92=) c.573C>A (p.Thr191=) | |
| 22 | g.19962688C= | CA2396125240 | COMT | c.162C= (p.Thr54=) c.12C= (p.Thr4=) n.10C= n.358C= c.276C= (p.Thr92=) c.573C= (p.Thr191=) | |
| 22 | g.19962688C>G | CA513687860 | COMT | c.162C>G (p.Thr54=) c.12C>G (p.Thr4=) n.10C>G n.358C>G c.276C>G (p.Thr92=) c.573C>G (p.Thr191=) | |
| 22 | g.19962688C>T | CA513687859 | COMT | c.162C>T (p.Thr54=) c.12C>T (p.Thr4=) n.10C>T n.358C>T c.276C>T (p.Thr92=) c.573C>T (p.Thr191=) | dbSNP |
| 22 | g.19962689A>C | CA410688693 | COMT | c.163A>C (p.Lys55Gln) c.13A>C (p.Lys5Gln) n.11A>C n.359A>C c.277A>C (p.Lys93Gln) c.574A>C (p.Lys192Gln) | |
| 22 | g.19962689A>G | CA410688694 | COMT | c.163A>G (p.Lys55Glu) c.13A>G (p.Lys5Glu) n.11A>G n.359A>G c.277A>G (p.Lys93Glu) c.574A>G (p.Lys192Glu) | |
| 22 | g.19962689A>T | CA410688695 | COMT | c.163A>T (p.Lys55Ter) c.13A>T (p.Lys5Ter) n.11A>T n.359A>T c.277A>T (p.Lys93Ter) c.574A>T (p.Lys192Ter) | |
| 22 | g.19962690A>C | CA410688696 | COMT | c.164A>C (p.Lys55Thr) c.14A>C (p.Lys5Thr) n.12A>C n.360A>C c.278A>C (p.Lys93Thr) c.575A>C (p.Lys192Thr) | |
| 22 | g.19962690A>G | CA410688697 | COMT | c.164A>G (p.Lys55Arg) c.14A>G (p.Lys5Arg) n.12A>G n.360A>G c.278A>G (p.Lys93Arg) c.575A>G (p.Lys192Arg) | |
| 22 | g.19962690A>T | CA410688698 | COMT | c.164A>T (p.Lys55Met) c.14A>T (p.Lys5Met) n.12A>T n.360A>T c.278A>T (p.Lys93Met) c.575A>T (p.Lys192Met) | dbSNP |
| 22 | g.19962691G>A | CA513687865 | COMT | c.165G>A (p.Lys55=) c.15G>A (p.Lys5=) n.13G>A n.361G>A c.279G>A (p.Lys93=) c.576G>A (p.Lys192=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962691G>C | CA410688699 | COMT | c.165G>C (p.Lys55Asn) c.15G>C (p.Lys5Asn) n.13G>C n.361G>C c.279G>C (p.Lys93Asn) c.576G>C (p.Lys192Asn) | |
| 22 | g.19962691G= | CA2396125241 | COMT | c.165G= (p.Lys55=) c.15G= (p.Lys5=) n.13G= n.361G= c.279G= (p.Lys93=) c.576G= (p.Lys192=) | |
| 22 | g.19962691G>T | CA410688700 | COMT | c.165G>T (p.Lys55Asn) c.15G>T (p.Lys5Asn) n.13G>T n.361G>T c.279G>T (p.Lys93Asn) c.576G>T (p.Lys192Asn) | |
| 22 | g.19962692G>A | CA410688701 | COMT | c.166G>A (p.Glu56Lys) c.16G>A (p.Glu6Lys) n.14G>A n.362G>A c.280G>A (p.Glu94Lys) c.577G>A (p.Glu193Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962692G>C | CA410688703 | COMT | c.166G>C (p.Glu56Gln) c.16G>C (p.Glu6Gln) n.14G>C n.362G>C c.280G>C (p.Glu94Gln) c.577G>C (p.Glu193Gln) | |
| 22 | g.19962692G= | CA2396125242 | COMT | c.166G= (p.Glu56=) c.16G= (p.Glu6=) n.14G= n.362G= c.280G= (p.Glu94=) c.577G= (p.Glu193=) | |
| 22 | g.19962692G>T | CA410688702 | COMT | c.166G>T (p.Glu56Ter) c.16G>T (p.Glu6Ter) n.14G>T n.362G>T c.280G>T (p.Glu94Ter) c.577G>T (p.Glu193Ter) | |
| 22 | g.19962693_19962694del | CA2577769697 | COMT | c.167_168del (p.Glu56AlafsTer24) c.17_18del (p.Glu6AlafsTer24) n.15_16del n.363_364del c.281_282del (p.Glu94AlafsTer24) c.578_579del (p.Glu193AlafsTer24) | |
| 22 | g.19962693A>C | CA410688704 | COMT | c.167A>C (p.Glu56Ala) c.17A>C (p.Glu6Ala) n.15A>C n.363A>C c.281A>C (p.Glu94Ala) c.578A>C (p.Glu193Ala) | |
| 22 | g.19962693A>G | CA410688705 | COMT | c.167A>G (p.Glu56Gly) c.17A>G (p.Glu6Gly) n.15A>G n.363A>G c.281A>G (p.Glu94Gly) c.578A>G (p.Glu193Gly) | |
| 22 | g.19962693A>T | CA410688706 | COMT | c.167A>T (p.Glu56Val) c.17A>T (p.Glu6Val) n.15A>T n.363A>T c.281A>T (p.Glu94Val) c.578A>T (p.Glu193Val) | |
| 22 | g.19962694G>A | CA513687869 | COMT | c.168G>A (p.Glu56=) c.18G>A (p.Glu6=) n.16G>A n.364G>A c.282G>A (p.Glu94=) c.579G>A (p.Glu193=) | |
| 22 | g.19962694G>C | CA410688707 | COMT | c.168G>C (p.Glu56Asp) c.18G>C (p.Glu6Asp) n.16G>C n.364G>C c.282G>C (p.Glu94Asp) c.579G>C (p.Glu193Asp) | |
| 22 | g.19962694G>T | CA410688708 | COMT | c.168G>T (p.Glu56Asp) c.18G>T (p.Glu6Asp) n.16G>T n.364G>T c.282G>T (p.Glu94Asp) c.579G>T (p.Glu193Asp) | |
| 22 | g.19962695C>A | CA10104474 | COMT | c.169C>A (p.Gln57Lys) c.19C>A (p.Gln7Lys) n.17C>A n.365C>A c.283C>A (p.Gln95Lys) c.580C>A (p.Gln194Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962695C= | CA2396125243 | COMT | c.169C= (p.Gln57=) c.19C= (p.Gln7=) n.17C= n.365C= c.283C= (p.Gln95=) c.580C= (p.Gln194=) | |
| 22 | g.19962695C>G | CA410688709 | COMT | c.169C>G (p.Gln57Glu) c.19C>G (p.Gln7Glu) n.17C>G n.365C>G c.283C>G (p.Gln95Glu) c.580C>G (p.Gln194Glu) | |
| 22 | g.19962695C>T | CA410688710 | COMT | c.169C>T (p.Gln57Ter) c.19C>T (p.Gln7Ter) n.17C>T n.365C>T c.283C>T (p.Gln95Ter) c.580C>T (p.Gln194Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962696A>C | CA410688711 | COMT | c.170A>C (p.Gln57Pro) c.20A>C (p.Gln7Pro) n.18A>C n.366A>C c.284A>C (p.Gln95Pro) c.581A>C (p.Gln194Pro) | |
| 22 | g.19962696A>G | CA410688712 | COMT | c.170A>G (p.Gln57Arg) c.20A>G (p.Gln7Arg) n.18A>G n.366A>G c.284A>G (p.Gln95Arg) c.581A>G (p.Gln194Arg) | dbSNP gnomAD v4 |
| 22 | g.19962696A>T | CA410688713 | COMT | c.170A>T (p.Gln57Leu) c.20A>T (p.Gln7Leu) n.18A>T n.366A>T c.284A>T (p.Gln95Leu) c.581A>T (p.Gln194Leu) | |
| 22 | g.19962697G>A | CA513687881 | COMT | c.171G>A (p.Gln57=) c.21G>A (p.Gln7=) n.19G>A n.367G>A c.285G>A (p.Gln95=) c.582G>A (p.Gln194=) | |
| 22 | g.19962697G>C | CA410688714 | COMT | c.171G>C (p.Gln57His) c.21G>C (p.Gln7His) n.19G>C n.367G>C c.285G>C (p.Gln95His) c.582G>C (p.Gln194His) | |
| 22 | g.19962697G>T | CA410688715 | COMT | c.171G>T (p.Gln57His) c.21G>T (p.Gln7His) n.19G>T n.367G>T c.285G>T (p.Gln95His) c.582G>T (p.Gln194His) | |
| 22 | g.19962698C>A | CA410688716 | COMT | c.172C>A (p.Arg58Ser) c.22C>A (p.Arg8Ser) n.20C>A n.368C>A c.286C>A (p.Arg96Ser) c.583C>A (p.Arg195Ser) | |
| 22 | g.19962698C= | CA2396125244 | COMT | c.172C= (p.Arg58=) c.22C= (p.Arg8=) n.20C= n.368C= c.286C= (p.Arg96=) c.583C= (p.Arg195=) | |
| 22 | g.19962698C>G | CA410688718 | COMT | c.172C>G (p.Arg58Gly) c.22C>G (p.Arg8Gly) n.20C>G n.368C>G c.286C>G (p.Arg96Gly) c.583C>G (p.Arg195Gly) | |
| 22 | g.19962698C>T | CA410688717 | COMT | c.172C>T (p.Arg58Cys) c.22C>T (p.Arg8Cys) n.20C>T n.368C>T c.286C>T (p.Arg96Cys) c.583C>T (p.Arg195Cys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 22 | g.19962699_19962710del | CA2842698650 | COMT | c.173_184del (p.Arg58_Asn61del) c.23_34del (p.Arg8_Asn11del) n.21_32del n.369_380del c.287_298del (p.Arg96_Asn99del) c.584_595del (p.Arg195_Asn198del) | |
| 22 | g.19962699G>A | CA10104475 | COMT | c.173G>A (p.Arg58His) c.23G>A (p.Arg8His) n.21G>A n.369G>A c.287G>A (p.Arg96His) c.584G>A (p.Arg195His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962699G>C | CA410688719 | COMT | c.173G>C (p.Arg58Pro) c.23G>C (p.Arg8Pro) n.21G>C n.369G>C c.287G>C (p.Arg96Pro) c.584G>C (p.Arg195Pro) | |
| 22 | g.19962699G= | CA2396125245 | COMT | c.173G= (p.Arg58=) c.23G= (p.Arg8=) n.21G= n.369G= c.287G= (p.Arg96=) c.584G= (p.Arg195=) | |
| 22 | g.19962699G>T | CA410688720 | COMT | c.173G>T (p.Arg58Leu) c.23G>T (p.Arg8Leu) n.21G>T n.369G>T c.287G>T (p.Arg96Leu) c.584G>T (p.Arg195Leu) | |
| 22 | g.19962700C>A | CA513687892 | COMT | c.174C>A (p.Arg58=) c.24C>A (p.Arg8=) n.22C>A n.370C>A c.288C>A (p.Arg96=) c.585C>A (p.Arg195=) | |
| 22 | g.19962700C>G | CA513687891 | COMT | c.174C>G (p.Arg58=) c.24C>G (p.Arg8=) n.22C>G n.370C>G c.288C>G (p.Arg96=) c.585C>G (p.Arg195=) | |
| 22 | g.19962700C>T | CA513687889 | COMT | c.174C>T (p.Arg58=) c.24C>T (p.Arg8=) n.22C>T n.370C>T c.288C>T (p.Arg96=) c.585C>T (p.Arg195=) | |
| 22 | g.19962701A= | CA2396125246 | COMT | c.175A= (p.Ile59=) c.25A= (p.Ile9=) n.23A= n.371A= c.289A= (p.Ile97=) c.586A= (p.Ile196=) | |
| 22 | g.19962701A>C | CA410688721 | COMT | c.175A>C (p.Ile59Leu) c.25A>C (p.Ile9Leu) n.23A>C n.371A>C c.289A>C (p.Ile97Leu) c.586A>C (p.Ile196Leu) | |
| 22 | g.19962701A>G | CA10104476 | COMT | c.175A>G (p.Ile59Val) c.25A>G (p.Ile9Val) n.23A>G n.371A>G c.289A>G (p.Ile97Val) c.586A>G (p.Ile196Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962701A>T | CA410688722 | COMT | c.175A>T (p.Ile59Phe) c.25A>T (p.Ile9Phe) n.23A>T n.371A>T c.289A>T (p.Ile97Phe) c.586A>T (p.Ile196Phe) | |
| 22 | g.19962702T>A | CA410688723 | COMT | c.176T>A (p.Ile59Asn) c.26T>A (p.Ile9Asn) n.24T>A n.372T>A c.290T>A (p.Ile97Asn) c.587T>A (p.Ile196Asn) | |
| 22 | g.19962702T>C | CA410688724 | COMT | c.176T>C (p.Ile59Thr) c.26T>C (p.Ile9Thr) n.24T>C n.372T>C c.290T>C (p.Ile97Thr) c.587T>C (p.Ile196Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962702T>G | CA410688725 | COMT | c.176T>G (p.Ile59Ser) c.26T>G (p.Ile9Ser) n.24T>G n.372T>G c.290T>G (p.Ile97Ser) c.587T>G (p.Ile196Ser) | gnomAD v4 |
| 22 | g.19962702T= | CA2396125247 | COMT | c.176T= (p.Ile59=) c.26T= (p.Ile9=) n.24T= n.372T= c.290T= (p.Ile97=) c.587T= (p.Ile196=) | |
| 22 | g.19962703C>A | CA513687917 | COMT | c.177C>A (p.Ile59=) c.27C>A (p.Ile9=) n.25C>A n.373C>A c.291C>A (p.Ile97=) c.588C>A (p.Ile196=) | |
| 22 | g.19962703C= | CA2396125248 | COMT | c.177C= (p.Ile59=) c.27C= (p.Ile9=) n.25C= n.373C= c.291C= (p.Ile97=) c.588C= (p.Ile196=) | |
| 22 | g.19962703C>G | CA410688726 | COMT | c.177C>G (p.Ile59Met) c.27C>G (p.Ile9Met) n.25C>G n.373C>G c.291C>G (p.Ile97Met) c.588C>G (p.Ile196Met) | gnomAD v4 |
| 22 | g.19962703C>T | CA513687913 | COMT | c.177C>T (p.Ile59=) c.27C>T (p.Ile9=) n.25C>T n.373C>T c.291C>T (p.Ile97=) c.588C>T (p.Ile196=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 22 | g.19962704C>A | CA410688728 | COMT | c.178C>A (p.Leu60Met) c.28C>A (p.Leu10Met) n.26C>A n.374C>A c.292C>A (p.Leu98Met) c.589C>A (p.Leu197Met) | |
| 22 | g.19962704C= | CA2396125249 | COMT | c.178C= (p.Leu60=) c.28C= (p.Leu10=) n.26C= n.374C= c.292C= (p.Leu98=) c.589C= (p.Leu197=) | |
| 22 | g.19962704C>G | CA410688727 | COMT | c.178C>G (p.Leu60Val) c.28C>G (p.Leu10Val) n.26C>G n.374C>G c.292C>G (p.Leu98Val) c.589C>G (p.Leu197Val) | |
| 22 | g.19962704C>T | CA10104477 | COMT | c.178C>T (p.Leu60=) c.28C>T (p.Leu10=) n.26C>T n.374C>T c.292C>T (p.Leu98=) c.589C>T (p.Leu197=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962705T>A | CA410688731 | COMT | c.179T>A (p.Leu60Gln) c.29T>A (p.Leu10Gln) n.27T>A n.375T>A c.293T>A (p.Leu98Gln) c.590T>A (p.Leu197Gln) | |
| 22 | g.19962705T>C | CA410688729 | COMT | c.179T>C (p.Leu60Pro) c.29T>C (p.Leu10Pro) n.27T>C n.375T>C c.293T>C (p.Leu98Pro) c.590T>C (p.Leu197Pro) | |
| 22 | g.19962705T>G | CA410688730 | COMT | c.179T>G (p.Leu60Arg) c.29T>G (p.Leu10Arg) n.27T>G n.375T>G c.293T>G (p.Leu98Arg) c.590T>G (p.Leu197Arg) | |
| 22 | g.19962706G>A | CA513687929 | COMT | c.180G>A (p.Leu60=) c.30G>A (p.Leu10=) n.28G>A n.376G>A c.294G>A (p.Leu98=) c.591G>A (p.Leu197=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962706G>C | CA513687927 | COMT | c.180G>C (p.Leu60=) c.30G>C (p.Leu10=) n.28G>C n.376G>C c.294G>C (p.Leu98=) c.591G>C (p.Leu197=) | |
| 22 | g.19962706G= | CA2396125250 | COMT | c.180G= (p.Leu60=) c.30G= (p.Leu10=) n.28G= n.376G= c.294G= (p.Leu98=) c.591G= (p.Leu197=) | |
| 22 | g.19962706G>T | CA513687926 | COMT | c.180G>T (p.Leu60=) c.30G>T (p.Leu10=) n.28G>T n.376G>T c.294G>T (p.Leu98=) c.591G>T (p.Leu197=) | |
| 22 | g.19962707A>C | CA410688732 | COMT | c.181A>C (p.Asn61His) c.31A>C (p.Asn11His) n.29A>C n.377A>C c.295A>C (p.Asn99His) c.592A>C (p.Asn198His) | |
| 22 | g.19962707A>G | CA410688733 | COMT | c.181A>G (p.Asn61Asp) c.31A>G (p.Asn11Asp) n.29A>G n.377A>G c.295A>G (p.Asn99Asp) c.592A>G (p.Asn198Asp) | |
| 22 | g.19962707A>T | CA410688734 | COMT | c.181A>T (p.Asn61Tyr) c.31A>T (p.Asn11Tyr) n.29A>T n.377A>T c.295A>T (p.Asn99Tyr) c.592A>T (p.Asn198Tyr) | |
| 22 | g.19962708A>C | CA410688735 | COMT | c.182A>C (p.Asn61Thr) c.32A>C (p.Asn11Thr) n.30A>C n.378A>C c.296A>C (p.Asn99Thr) c.593A>C (p.Asn198Thr) | |
| 22 | g.19962708A>G | CA410688736 | COMT | c.182A>G (p.Asn61Ser) c.32A>G (p.Asn11Ser) n.30A>G n.378A>G c.296A>G (p.Asn99Ser) c.593A>G (p.Asn198Ser) | gnomAD v4 |
| 22 | g.19962708A>T | CA410688737 | COMT | c.182A>T (p.Asn61Ile) c.32A>T (p.Asn11Ile) n.30A>T n.378A>T c.296A>T (p.Asn99Ile) c.593A>T (p.Asn198Ile) | |
| 22 | g.19962709C>A | CA410688738 | COMT | c.183C>A (p.Asn61Lys) c.33C>A (p.Asn11Lys) n.31C>A n.379C>A c.297C>A (p.Asn99Lys) c.594C>A (p.Asn198Lys) | gnomAD v4 |
| 22 | g.19962709C>G | CA410688739 | COMT | c.183C>G (p.Asn61Lys) c.33C>G (p.Asn11Lys) n.31C>G n.379C>G c.297C>G (p.Asn99Lys) c.594C>G (p.Asn198Lys) | |
| 22 | g.19962709C>T | CA513687940 | COMT | c.183C>T (p.Asn61=) c.33C>T (p.Asn11=) n.31C>T n.379C>T c.297C>T (p.Asn99=) c.594C>T (p.Asn198=) | gnomAD v4 |
| 22 | g.19962710C>A | CA410688740 | COMT | c.184C>A (p.His62Asn) c.34C>A (p.His12Asn) n.32C>A n.380C>A c.298C>A (p.His100Asn) c.595C>A (p.His199Asn) | |
| 22 | g.19962710C= | CA2396125251 | COMT | c.184C= (p.His62=) c.34C= (p.His12=) n.32C= n.380C= c.298C= (p.His100=) c.595C= (p.His199=) | |
| 22 | g.19962710C>G | CA410688741 | COMT | c.184C>G (p.His62Asp) c.34C>G (p.His12Asp) n.32C>G n.380C>G c.298C>G (p.His100Asp) c.595C>G (p.His199Asp) | |
| 22 | g.19962710C>T | CA410688742 | COMT | c.184C>T (p.His62Tyr) c.34C>T (p.His12Tyr) n.32C>T n.380C>T c.298C>T (p.His100Tyr) c.595C>T (p.His199Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962711_19962712del | CA2655332886 | COMT | c.185_186del (p.His62ArgfsTer18) c.35_36del (p.His12ArgfsTer18) n.33_34del n.381_382del c.299_300del (p.His100ArgfsTer18) c.596_597del (p.His199ArgfsTer18) | gnomAD v4 |
| 22 | g.19962711A>C | CA410688745 | COMT | c.185A>C (p.His62Pro) c.35A>C (p.His12Pro) n.33A>C n.381A>C c.299A>C (p.His100Pro) c.596A>C (p.His199Pro) | |
| 22 | g.19962711A>G | CA410688744 | COMT | c.185A>G (p.His62Arg) c.35A>G (p.His12Arg) n.33A>G n.381A>G c.299A>G (p.His100Arg) c.596A>G (p.His199Arg) | |
| 22 | g.19962711A>T | CA410688743 | COMT | c.185A>T (p.His62Leu) c.35A>T (p.His12Leu) n.33A>T n.381A>T c.299A>T (p.His100Leu) c.596A>T (p.His199Leu) | |
| 22 | g.19962712C>A | CA410688746 | COMT | c.186C>A (p.His62Gln) c.36C>A (p.His12Gln) n.34C>A n.382C>A c.300C>A (p.His100Gln) c.597C>A (p.His199Gln) | gnomAD v4 |
| 22 | g.19962712C= | CA1139772227 | COMT | c.186C= (p.His62=) c.36C= (p.His12=) n.34C= n.382C= c.300C= (p.His100=) c.597C= (p.His199=) | |
| 22 | g.19962712C>G | CA410688747 | COMT | c.186C>G (p.His62Gln) c.36C>G (p.His12Gln) n.34C>G n.382C>G c.300C>G (p.His100Gln) c.597C>G (p.His199Gln) | |
| 22 | g.19962712C>T | CA10104478 | COMT | c.186C>T (p.His62=) c.36C>T (p.His12=) n.34C>T n.382C>T c.300C>T (p.His100=) c.597C>T (p.His199=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962713G>A | CA410688748 | COMT | c.187G>A (p.Val63Met) c.37G>A (p.Val13Met) n.35G>A n.383G>A c.301G>A (p.Val101Met) c.598G>A (p.Val200Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962713G>C | CA410688749 | COMT | c.187G>C (p.Val63Leu) c.37G>C (p.Val13Leu) n.35G>C n.383G>C c.301G>C (p.Val101Leu) c.598G>C (p.Val200Leu) | |
| 22 | g.19962713G= | CA2396125252 | COMT | c.187G= (p.Val63=) c.37G= (p.Val13=) n.35G= n.383G= c.301G= (p.Val101=) c.598G= (p.Val200=) | |
| 22 | g.19962713G>T | CA410688750 | COMT | c.187G>T (p.Val63Leu) c.37G>T (p.Val13Leu) n.35G>T n.383G>T c.301G>T (p.Val101Leu) c.598G>T (p.Val200Leu) | |
| 22 | g.19962714T>A | CA410688751 | COMT | c.188T>A (p.Val63Glu) c.38T>A (p.Val13Glu) n.36T>A n.384T>A c.302T>A (p.Val101Glu) c.599T>A (p.Val200Glu) | gnomAD v4 |
| 22 | g.19962714T>C | CA10104479 | COMT | c.188T>C (p.Val63Ala) c.38T>C (p.Val13Ala) n.36T>C n.384T>C c.302T>C (p.Val101Ala) c.599T>C (p.Val200Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962714T>G | CA410688752 | COMT | c.188T>G (p.Val63Gly) c.38T>G (p.Val13Gly) n.36T>G n.384T>G c.302T>G (p.Val101Gly) c.599T>G (p.Val200Gly) | |
| 22 | g.19962714T= | CA2396125253 | COMT | c.188T= (p.Val63=) c.38T= (p.Val13=) n.36T= n.384T= c.302T= (p.Val101=) c.599T= (p.Val200=) | |
| 22 | g.19962715G>A | CA513687964 | COMT | c.189G>A (p.Val63=) c.39G>A (p.Val13=) n.37G>A n.385G>A c.303G>A (p.Val101=) c.600G>A (p.Val200=) | |
| 22 | g.19962715G>C | CA513687961 | COMT | c.189G>C (p.Val63=) c.39G>C (p.Val13=) n.37G>C n.385G>C c.303G>C (p.Val101=) c.600G>C (p.Val200=) | |
| 22 | g.19962715G>T | CA513687960 | COMT | c.189G>T (p.Val63=) c.39G>T (p.Val13=) n.37G>T n.385G>T c.303G>T (p.Val101=) c.600G>T (p.Val200=) | |
| 22 | g.19962716C>A | CA410688753 | COMT | c.190C>A (p.Leu64Met) c.40C>A (p.Leu14Met) n.38C>A n.386C>A c.304C>A (p.Leu102Met) c.601C>A (p.Leu201Met) | |
| 22 | g.19962716C>G | CA410688754 | COMT | c.190C>G (p.Leu64Val) c.40C>G (p.Leu14Val) n.38C>G n.386C>G c.304C>G (p.Leu102Val) c.601C>G (p.Leu201Val) | |
| 22 | g.19962716C>T | CA513687966 | COMT | c.190C>T (p.Leu64=) c.40C>T (p.Leu14=) n.38C>T n.386C>T c.304C>T (p.Leu102=) c.601C>T (p.Leu201=) | |
| 22 | g.19962717T>A | CA410688755 | COMT | c.191T>A (p.Leu64Gln) c.41T>A (p.Leu14Gln) n.39T>A n.387T>A c.305T>A (p.Leu102Gln) c.602T>A (p.Leu201Gln) | |
| 22 | g.19962717T>C | CA410688756 | COMT | c.191T>C (p.Leu64Pro) c.41T>C (p.Leu14Pro) n.39T>C n.387T>C c.305T>C (p.Leu102Pro) c.602T>C (p.Leu201Pro) | |
| 22 | g.19962717T>G | CA410688757 | COMT | c.191T>G (p.Leu64Arg) c.41T>G (p.Leu14Arg) n.39T>G n.387T>G c.305T>G (p.Leu102Arg) c.602T>G (p.Leu201Arg) | |
| 22 | g.19962718G>A | CA513687978 | COMT | c.192G>A (p.Leu64=) c.42G>A (p.Leu14=) n.40G>A n.388G>A c.306G>A (p.Leu102=) c.603G>A (p.Leu201=) | |
| 22 | g.19962718G>C | CA513687973 | COMT | c.192G>C (p.Leu64=) c.42G>C (p.Leu14=) n.40G>C n.388G>C c.306G>C (p.Leu102=) c.603G>C (p.Leu201=) | |
| 22 | g.19962718G>T | CA513687972 | COMT | c.192G>T (p.Leu64=) c.42G>T (p.Leu14=) n.40G>T n.388G>T c.306G>T (p.Leu102=) c.603G>T (p.Leu201=) | |
| 22 | g.19962719C>A | CA410688759 | COMT | c.193C>A (p.Gln65Lys) c.43C>A (p.Gln15Lys) n.41C>A n.389C>A c.307C>A (p.Gln103Lys) c.604C>A (p.Gln202Lys) | |
| 22 | g.19962719C>G | CA410688760 | COMT | c.193C>G (p.Gln65Glu) c.43C>G (p.Gln15Glu) n.41C>G n.389C>G c.307C>G (p.Gln103Glu) c.604C>G (p.Gln202Glu) | |
| 22 | g.19962719C>T | CA410688758 | COMT | c.193C>T (p.Gln65Ter) c.43C>T (p.Gln15Ter) n.41C>T n.389C>T c.307C>T (p.Gln103Ter) c.604C>T (p.Gln202Ter) | |
| 22 | g.19962720A= | CA2396125254 | COMT | c.194A= (p.Gln65=) c.44A= (p.Gln15=) n.42A= n.390A= c.308A= (p.Gln103=) c.605A= (p.Gln202=) | |
| 22 | g.19962720A>C | CA410688761 | COMT | c.194A>C (p.Gln65Pro) c.44A>C (p.Gln15Pro) n.42A>C n.390A>C c.308A>C (p.Gln103Pro) c.605A>C (p.Gln202Pro) | |
| 22 | g.19962720A>G | CA322120809 | COMT | c.194A>G (p.Gln65Arg) c.44A>G (p.Gln15Arg) n.42A>G n.390A>G c.308A>G (p.Gln103Arg) c.605A>G (p.Gln202Arg) | dbSNP gnomAD v4 |
| 22 | g.19962720A>T | CA410688762 | COMT | c.194A>T (p.Gln65Leu) c.44A>T (p.Gln15Leu) n.42A>T n.390A>T c.308A>T (p.Gln103Leu) c.605A>T (p.Gln202Leu) | |
| 22 | g.19962721del | CA2655332900 | COMT | c.195del (p.Gln65HisfsTer26) c.45del (p.Gln15HisfsTer26) n.43del n.391del c.309del (p.Gln103HisfsTer26) c.606del (p.Gln202HisfsTer26) | gnomAD v4 |
| 22 | g.19962721G>A | CA513688006 | COMT | c.195G>A (p.Gln65=) c.45G>A (p.Gln15=) n.43G>A n.391G>A c.309G>A (p.Gln103=) c.606G>A (p.Gln202=) | |
| 22 | g.19962721G>C | CA410688763 | COMT | c.195G>C (p.Gln65His) c.45G>C (p.Gln15His) n.43G>C n.391G>C c.309G>C (p.Gln103His) c.606G>C (p.Gln202His) | |
| 22 | g.19962721G>T | CA410688764 | COMT | c.195G>T (p.Gln65His) c.45G>T (p.Gln15His) n.43G>T n.391G>T c.309G>T (p.Gln103His) c.606G>T (p.Gln202His) | |
| 22 | g.19962722C>A | CA410688765 | COMT | c.196C>A (p.His66Asn) c.46C>A (p.His16Asn) n.44C>A n.392C>A c.310C>A (p.His104Asn) c.607C>A (p.His203Asn) | |
| 22 | g.19962722C= | CA2396125255 | COMT | c.196C= (p.His66=) c.46C= (p.His16=) n.44C= n.392C= c.310C= (p.His104=) c.607C= (p.His203=) | |
| 22 | g.19962722C>G | CA410688766 | COMT | c.196C>G (p.His66Asp) c.46C>G (p.His16Asp) n.44C>G n.392C>G c.310C>G (p.His104Asp) c.607C>G (p.His203Asp) | |
| 22 | g.19962722C>T | CA410688767 | COMT | c.196C>T (p.His66Tyr) c.46C>T (p.His16Tyr) n.44C>T n.392C>T c.310C>T (p.His104Tyr) c.607C>T (p.His203Tyr) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962723A= | CA2396125256 | COMT | c.197A= (p.His66=) c.47A= (p.His16=) n.45A= n.393A= c.311A= (p.His104=) c.608A= (p.His203=) | |
| 22 | g.19962723A>C | CA410688768 | COMT | c.197A>C (p.His66Pro) c.47A>C (p.His16Pro) n.45A>C n.393A>C c.311A>C (p.His104Pro) c.608A>C (p.His203Pro) | |
| 22 | g.19962723A>G | CA410688769 | COMT | c.197A>G (p.His66Arg) c.47A>G (p.His16Arg) n.45A>G n.393A>G c.311A>G (p.His104Arg) c.608A>G (p.His203Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962723A>T | CA410688770 | COMT | c.197A>T (p.His66Leu) c.47A>T (p.His16Leu) n.45A>T n.393A>T c.311A>T (p.His104Leu) c.608A>T (p.His203Leu) | gnomAD v4 |
| 22 | g.19962724T>A | CA410688771 | COMT | c.198T>A (p.His66Gln) c.48T>A (p.His16Gln) n.46T>A n.394T>A c.312T>A (p.His104Gln) c.609T>A (p.His203Gln) | gnomAD v4 |
| 22 | g.19962724T>C | CA513688011 | COMT | c.198T>C (p.His66=) c.48T>C (p.His16=) n.46T>C n.394T>C c.312T>C (p.His104=) c.609T>C (p.His203=) | |
| 22 | g.19962724T>G | CA410688772 | COMT | c.198T>G (p.His66Gln) c.48T>G (p.His16Gln) n.46T>G n.394T>G c.312T>G (p.His104Gln) c.609T>G (p.His203Gln) | |
| 22 | g.19962725G>A | CA410688775 | COMT | c.199G>A (p.Ala67Thr) c.49G>A (p.Ala17Thr) n.47G>A n.395G>A c.313G>A (p.Ala105Thr) c.610G>A (p.Ala204Thr) | dbSNP |
| 22 | g.19962725G>C | CA410688773 | COMT | c.199G>C (p.Ala67Pro) c.49G>C (p.Ala17Pro) n.47G>C n.395G>C c.313G>C (p.Ala105Pro) c.610G>C (p.Ala204Pro) | |
| 22 | g.19962725G= | CA2396125257 | COMT | c.199G= (p.Ala67=) c.49G= (p.Ala17=) n.47G= n.395G= c.313G= (p.Ala105=) c.610G= (p.Ala204=) | |
| 22 | g.19962725G>T | CA410688774 | COMT | c.199G>T (p.Ala67Ser) c.49G>T (p.Ala17Ser) n.47G>T n.395G>T c.313G>T (p.Ala105Ser) c.610G>T (p.Ala204Ser) | |
| 22 | g.19962726C>A | CA410688776 | COMT | c.200C>A (p.Ala67Glu) c.50C>A (p.Ala17Glu) n.48C>A n.396C>A c.314C>A (p.Ala105Glu) c.611C>A (p.Ala204Glu) | |
| 22 | g.19962726C= | CA2396125258 | COMT | c.200C= (p.Ala67=) c.50C= (p.Ala17=) n.48C= n.396C= c.314C= (p.Ala105=) c.611C= (p.Ala204=) | |
| 22 | g.19962726C>G | CA410688777 | COMT | c.200C>G (p.Ala67Gly) c.50C>G (p.Ala17Gly) n.48C>G n.396C>G c.314C>G (p.Ala105Gly) c.611C>G (p.Ala204Gly) | |
| 22 | g.19962726C>T | CA10104480 | COMT | c.200C>T (p.Ala67Val) c.50C>T (p.Ala17Val) n.48C>T n.396C>T c.314C>T (p.Ala105Val) c.611C>T (p.Ala204Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962727G>A | CA10104481 | COMT | c.201G>A (p.Ala67=) c.51G>A (p.Ala17=) n.49G>A n.397G>A c.315G>A (p.Ala105=) c.612G>A (p.Ala204=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962727G>C | CA513688030 | COMT | c.201G>C (p.Ala67=) c.51G>C (p.Ala17=) n.49G>C n.397G>C c.315G>C (p.Ala105=) c.612G>C (p.Ala204=) | |
| 22 | g.19962727G= | CA2396125259 | COMT | c.201G= (p.Ala67=) c.51G= (p.Ala17=) n.49G= n.397G= c.315G= (p.Ala105=) c.612G= (p.Ala204=) | |
| 22 | g.19962727G>T | CA513688028 | COMT | c.201G>T (p.Ala67=) c.51G>T (p.Ala17=) n.49G>T n.397G>T c.315G>T (p.Ala105=) c.612G>T (p.Ala204=) | |
| 22 | g.19962727_19962738del | CA2655332910 | COMT | c.201_212del (p.Glu68_Asn71del) c.51_62del (p.Glu18_Asn21del) n.49_60del n.397_408del c.315_326del (p.Glu106_Asn109del) c.612_623del (p.Glu205_Asn208del) | gnomAD v4 |
| 22 | g.19962728G>A | CA410688778 | COMT | c.202G>A (p.Glu68Lys) c.52G>A (p.Glu18Lys) n.50G>A n.398G>A c.316G>A (p.Glu106Lys) c.613G>A (p.Glu205Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962728G>C | CA410688779 | COMT | c.202G>C (p.Glu68Gln) c.52G>C (p.Glu18Gln) n.50G>C n.398G>C c.316G>C (p.Glu106Gln) c.613G>C (p.Glu205Gln) | |
| 22 | g.19962728G= | CA2396125260 | COMT | c.202G= (p.Glu68=) c.52G= (p.Glu18=) n.50G= n.398G= c.316G= (p.Glu106=) c.613G= (p.Glu205=) | |
| 22 | g.19962728G>T | CA410688780 | COMT | c.202G>T (p.Glu68Ter) c.52G>T (p.Glu18Ter) n.50G>T n.398G>T c.316G>T (p.Glu106Ter) c.613G>T (p.Glu205Ter) | |
| 22 | g.19962729A>C | CA410688781 | COMT | c.203A>C (p.Glu68Ala) c.53A>C (p.Glu18Ala) n.51A>C n.399A>C c.317A>C (p.Glu106Ala) c.614A>C (p.Glu205Ala) | |
| 22 | g.19962729A>G | CA410688782 | COMT | c.203A>G (p.Glu68Gly) c.53A>G (p.Glu18Gly) n.51A>G n.399A>G c.317A>G (p.Glu106Gly) c.614A>G (p.Glu205Gly) | |
| 22 | g.19962729A>T | CA410688783 | COMT | c.203A>T (p.Glu68Val) c.53A>T (p.Glu18Val) n.51A>T n.399A>T c.317A>T (p.Glu106Val) c.614A>T (p.Glu205Val) | |
| 22 | g.19962730G>A | CA322120812 | COMT | c.204G>A (p.Glu68=) c.54G>A (p.Glu18=) n.52G>A n.400G>A c.318G>A (p.Glu106=) c.615G>A (p.Glu205=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962730G>C | CA410688784 | COMT | c.204G>C (p.Glu68Asp) c.54G>C (p.Glu18Asp) n.52G>C n.400G>C c.318G>C (p.Glu106Asp) c.615G>C (p.Glu205Asp) | |
| 22 | g.19962730G= | CA2396125261 | COMT | c.204G= (p.Glu68=) c.54G= (p.Glu18=) n.52G= n.400G= c.318G= (p.Glu106=) c.615G= (p.Glu205=) | |
| 22 | g.19962730G>T | CA410688785 | COMT | c.204G>T (p.Glu68Asp) c.54G>T (p.Glu18Asp) n.52G>T n.400G>T c.318G>T (p.Glu106Asp) c.615G>T (p.Glu205Asp) | |
| 22 | g.19962731C>A | CA410688788 | COMT | c.205C>A (p.Pro69Thr) c.55C>A (p.Pro19Thr) n.53C>A n.401C>A c.319C>A (p.Pro107Thr) c.616C>A (p.Pro206Thr) | |
| 22 | g.19962731C>G | CA410688787 | COMT | c.205C>G (p.Pro69Ala) c.55C>G (p.Pro19Ala) n.53C>G n.401C>G c.319C>G (p.Pro107Ala) c.616C>G (p.Pro206Ala) | |
| 22 | g.19962731C>T | CA410688786 | COMT | c.205C>T (p.Pro69Ser) c.55C>T (p.Pro19Ser) n.53C>T n.401C>T c.319C>T (p.Pro107Ser) c.616C>T (p.Pro206Ser) | |
| 22 | g.19962732C>A | CA410688789 | COMT | c.206C>A (p.Pro69His) c.56C>A (p.Pro19His) n.54C>A n.402C>A c.320C>A (p.Pro107His) c.617C>A (p.Pro206His) | |
| 22 | g.19962732C>G | CA410688791 | COMT | c.206C>G (p.Pro69Arg) c.56C>G (p.Pro19Arg) n.54C>G n.402C>G c.320C>G (p.Pro107Arg) c.617C>G (p.Pro206Arg) | |
| 22 | g.19962732C>T | CA410688790 | COMT | c.206C>T (p.Pro69Leu) c.56C>T (p.Pro19Leu) n.54C>T n.402C>T c.320C>T (p.Pro107Leu) c.617C>T (p.Pro206Leu) | dbSNP |
| 22 | g.19962733C>A | CA513688058 | COMT | c.207C>A (p.Pro69=) c.57C>A (p.Pro19=) n.55C>A n.403C>A c.321C>A (p.Pro107=) c.618C>A (p.Pro206=) | gnomAD v4 |
| 22 | g.19962733C= | CA2396125262 | COMT | c.207C= (p.Pro69=) c.57C= (p.Pro19=) n.55C= n.403C= c.321C= (p.Pro107=) c.618C= (p.Pro206=) | |
| 22 | g.19962733C>G | CA10104483 | COMT | c.207C>G (p.Pro69=) c.57C>G (p.Pro19=) n.55C>G n.403C>G c.321C>G (p.Pro107=) c.618C>G (p.Pro206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962733C>T | CA10104482 | COMT | c.207C>T (p.Pro69=) c.57C>T (p.Pro19=) n.55C>T n.403C>T c.321C>T (p.Pro107=) c.618C>T (p.Pro206=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962733_19962734delinsCG | CA2396125263 | COMT | c.207_208delinsCG (p.Pro69=) c.57_58delinsCG (p.Pro19=) n.55_56delinsCG n.403_404delinsCG c.321_322delinsCG (p.Pro107=) c.618_619delinsCG (p.Pro206=) |