| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.19962584_19962595dup | CA2396125185 | COMT | c.58_69dup (p.Leu23_Leu24insValValLeuLeu) c.-93_-82dup (n.-93_-82dup) n.254_265dup c.172_183dup (p.Leu61_Leu62insValValLeuLeu) c.469_480dup (p.Leu160_Leu161insValValLeuLeu) | dbSNP gnomAD v4 |
| 22 | g.19962584_19962595del | CA1024175344 | COMT | c.58_69del (p.Val20_Leu23del) c.-93_-82del (n.-93_-82del) n.254_265del c.172_183del (p.Val58_Leu61del) c.469_480del (p.Val157_Leu160del) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962584_19962592del | CA322120765 | COMT | c.58_66del (p.Val20_Leu22del) c.-93_-85del (n.-93_-85del) n.254_262del c.172_180del (p.Val58_Leu60del) c.469_477del (p.Val157_Leu159del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962598_19962600dup | CA2396125195 | COMT | c.72_74dup (p.Leu25_Leu26insLeu) c.-79_-77dup (n.-79_-77dup) n.268_270dup c.186_188dup (p.Leu63_Leu64insLeu) c.483_485dup (p.Leu162_Leu163insLeu) | dbSNP gnomAD v4 |
| 22 | g.19962598_19962600del | CA638504492 | COMT | c.72_74del (p.Leu25del) c.-79_-77del (n.-79_-77del) n.268_270del c.186_188del (p.Leu63del) c.483_485del (p.Leu162del) | gnomAD v2 gnomAD v4 |
| 22 | g.19962592G>A | CA513688215 | COMT | c.66G>A (p.Leu22=) c.-85G>A (n.-85G>A) n.262G>A c.180G>A (p.Leu60=) c.477G>A (p.Leu159=) | |
| 22 | g.19962592G>C | CA513688211 | COMT | c.66G>C (p.Leu22=) c.-85G>C (n.-85G>C) n.262G>C c.180G>C (p.Leu60=) c.477G>C (p.Leu159=) | gnomAD v4 |
| 22 | g.19962592G>T | CA513688208 | COMT | c.66G>T (p.Leu22=) c.-85G>T (n.-85G>T) n.262G>T c.180G>T (p.Leu60=) c.477G>T (p.Leu159=) | |
| 22 | g.19962593C>A | CA410688491 | COMT | c.67C>A (p.Leu23Met) c.-84C>A (n.-84C>A) n.263C>A c.181C>A (p.Leu61Met) c.478C>A (p.Leu160Met) | |
| 22 | g.19962593C= | CA2396125198 | COMT | c.67C= (p.Leu23=) c.-84C= (n.-84C=) n.263C= c.181C= (p.Leu61=) c.478C= (p.Leu160=) | |
| 22 | g.19962593C>G | CA410688492 | COMT | c.67C>G (p.Leu23Val) c.-84C>G (n.-84C>G) n.263C>G c.181C>G (p.Leu61Val) c.478C>G (p.Leu160Val) | dbSNP |
| 22 | g.19962593C>T | CA513688217 | COMT | c.67C>T (p.Leu23=) c.-84C>T (n.-84C>T) n.263C>T c.181C>T (p.Leu61=) c.478C>T (p.Leu160=) | |
| 22 | g.19962594T>A | CA322120774 | COMT | c.68T>A (p.Leu23Gln) c.-83T>A (n.-83T>A) n.264T>A c.182T>A (p.Leu61Gln) c.479T>A (p.Leu160Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962594T>C | CA410688493 | COMT | c.68T>C (p.Leu23Pro) c.-83T>C (n.-83T>C) n.264T>C c.182T>C (p.Leu61Pro) c.479T>C (p.Leu160Pro) | |
| 22 | g.19962594T>G | CA410688494 | COMT | c.68T>G (p.Leu23Arg) c.-83T>G (n.-83T>G) n.264T>G c.182T>G (p.Leu61Arg) c.479T>G (p.Leu160Arg) | |
| 22 | g.19962594T= | CA2396125199 | COMT | c.68T= (p.Leu23=) c.-83T= (n.-83T=) n.264T= c.182T= (p.Leu61=) c.479T= (p.Leu160=) | |
| 22 | g.19962595G>A | CA513688226 | COMT | c.69G>A (p.Leu23=) c.-82G>A (n.-82G>A) n.265G>A c.183G>A (p.Leu61=) c.480G>A (p.Leu160=) | gnomAD v4 |
| 22 | g.19962595G>C | CA513688222 | COMT | c.69G>C (p.Leu23=) c.-82G>C (n.-82G>C) n.265G>C c.183G>C (p.Leu61=) c.480G>C (p.Leu160=) | |
| 22 | g.19962595G>T | CA513688221 | COMT | c.69G>T (p.Leu23=) c.-82G>T (n.-82G>T) n.265G>T c.183G>T (p.Leu61=) c.480G>T (p.Leu160=) | gnomAD v4 |
| 22 | g.19962596C>A | CA410688495 | COMT | c.70C>A (p.Leu24Met) c.-81C>A (n.-81C>A) n.266C>A c.184C>A (p.Leu62Met) c.481C>A (p.Leu161Met) | dbSNP gnomAD v2 |
| 22 | g.19962596C= | CA2396125200 | COMT | c.70C= (p.Leu24=) c.-81C= (n.-81C=) n.266C= c.184C= (p.Leu62=) c.481C= (p.Leu161=) | |
| 22 | g.19962596C>G | CA410688496 | COMT | c.70C>G (p.Leu24Val) c.-81C>G (n.-81C>G) n.266C>G c.184C>G (p.Leu62Val) c.481C>G (p.Leu161Val) | |
| 22 | g.19962596C>T | CA513688229 | COMT | c.70C>T (p.Leu24=) c.-81C>T (n.-81C>T) n.266C>T c.184C>T (p.Leu62=) c.481C>T (p.Leu161=) | |
| 22 | g.19962597T>A | CA410688499 | COMT | c.71T>A (p.Leu24Gln) c.-80T>A (n.-80T>A) n.267T>A c.185T>A (p.Leu62Gln) c.482T>A (p.Leu161Gln) | |
| 22 | g.19962597T>C | CA410688497 | COMT | c.71T>C (p.Leu24Pro) c.-80T>C (n.-80T>C) n.267T>C c.185T>C (p.Leu62Pro) c.482T>C (p.Leu161Pro) | gnomAD v4 |
| 22 | g.19962597T>G | CA410688498 | COMT | c.71T>G (p.Leu24Arg) c.-80T>G (n.-80T>G) n.267T>G c.185T>G (p.Leu62Arg) c.482T>G (p.Leu161Arg) | |
| 22 | g.19962598G>A | CA513688245 | COMT | c.72G>A (p.Leu24=) c.-79G>A (n.-79G>A) n.268G>A c.186G>A (p.Leu62=) c.483G>A (p.Leu161=) | |
| 22 | g.19962598G>C | CA513688242 | COMT | c.72G>C (p.Leu24=) c.-79G>C (n.-79G>C) n.268G>C c.186G>C (p.Leu62=) c.483G>C (p.Leu161=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962598G= | CA2396125201 | COMT | c.72G= (p.Leu24=) c.-79G= (n.-79G=) n.268G= c.186G= (p.Leu62=) c.483G= (p.Leu161=) | |
| 22 | g.19962598G>T | CA513688241 | COMT | c.72G>T (p.Leu24=) c.-79G>T (n.-79G>T) n.268G>T c.186G>T (p.Leu62=) c.483G>T (p.Leu161=) | gnomAD v4 |
| 22 | g.19962599C>A | CA410688500 | COMT | c.73C>A (p.Leu25Ile) c.-78C>A (n.-78C>A) n.269C>A c.187C>A (p.Leu63Ile) c.484C>A (p.Leu162Ile) | |
| 22 | g.19962599C= | CA2396125202 | COMT | c.73C= (p.Leu25=) c.-78C= (n.-78C=) n.269C= c.187C= (p.Leu63=) c.484C= (p.Leu162=) | |
| 22 | g.19962599C>G | CA410688501 | COMT | c.73C>G (p.Leu25Val) c.-78C>G (n.-78C>G) n.269C>G c.187C>G (p.Leu63Val) c.484C>G (p.Leu162Val) | |
| 22 | g.19962599C>T | CA10104455 | COMT | c.73C>T (p.Leu25Phe) c.-78C>T (n.-78C>T) n.269C>T c.187C>T (p.Leu63Phe) c.484C>T (p.Leu162Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962600T>A | CA410688502 | COMT | c.74T>A (p.Leu25His) c.-77T>A (n.-77T>A) n.270T>A c.188T>A (p.Leu63His) c.485T>A (p.Leu162His) | |
| 22 | g.19962600T>C | CA410688503 | COMT | c.74T>C (p.Leu25Pro) c.-77T>C (n.-77T>C) n.270T>C c.188T>C (p.Leu63Pro) c.485T>C (p.Leu162Pro) | gnomAD v4 |
| 22 | g.19962600T>G | CA410688504 | COMT | c.74T>G (p.Leu25Arg) c.-77T>G (n.-77T>G) n.270T>G c.188T>G (p.Leu63Arg) c.485T>G (p.Leu162Arg) | |
| 22 | g.19962601T>A | CA513688256 | COMT | c.75T>A (p.Leu25=) c.-76T>A (n.-76T>A) n.271T>A c.189T>A (p.Leu63=) c.486T>A (p.Leu162=) | |
| 22 | g.19962601T>C | CA513688255 | COMT | c.75T>C (p.Leu25=) c.-76T>C (n.-76T>C) n.271T>C c.189T>C (p.Leu63=) c.486T>C (p.Leu162=) | |
| 22 | g.19962601T>G | CA513688254 | COMT | c.75T>G (p.Leu25=) c.-76T>G (n.-76T>G) n.271T>G c.189T>G (p.Leu63=) c.486T>G (p.Leu162=) | |
| 22 | g.19962602C>A | CA410688506 | COMT | c.76C>A (p.Leu26Met) c.-75C>A (n.-75C>A) n.272C>A c.190C>A (p.Leu64Met) c.487C>A (p.Leu163Met) | |
| 22 | g.19962602C= | CA2396125203 | COMT | c.76C= (p.Leu26=) c.-75C= (n.-75C=) n.272C= c.190C= (p.Leu64=) c.487C= (p.Leu163=) | |
| 22 | g.19962602C>G | CA410688505 | COMT | c.76C>G (p.Leu26Val) c.-75C>G (n.-75C>G) n.272C>G c.190C>G (p.Leu64Val) c.487C>G (p.Leu163Val) | |
| 22 | g.19962602C>T | CA10104456 | COMT | c.76C>T (p.Leu26=) c.-75C>T (n.-75C>T) n.272C>T c.190C>T (p.Leu64=) c.487C>T (p.Leu163=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962603T>A | CA410688507 | COMT | c.77T>A (p.Leu26Gln) c.-74T>A (n.-74T>A) n.273T>A c.191T>A (p.Leu64Gln) c.488T>A (p.Leu163Gln) | |
| 22 | g.19962603T>C | CA410688508 | COMT | c.77T>C (p.Leu26Pro) c.-74T>C (n.-74T>C) n.273T>C c.191T>C (p.Leu64Pro) c.488T>C (p.Leu163Pro) | |
| 22 | g.19962603T>G | CA410688509 | COMT | c.77T>G (p.Leu26Arg) c.-74T>G (n.-74T>G) n.273T>G c.191T>G (p.Leu64Arg) c.488T>G (p.Leu163Arg) | dbSNP |
| 22 | g.19962603T= | CA2396125204 | COMT | c.77T= (p.Leu26=) c.-74T= (n.-74T=) n.273T= c.191T= (p.Leu64=) c.488T= (p.Leu163=) | |
| 22 | g.19962603_19962604insA | CA913086667 | COMT | c.77_78insA (p.Arg27GlufsTer27) c.-74_-73insA (n.-74_-73insA) n.273_274insA c.191_192insA (p.Arg65GlufsTer27) c.488_489insA (p.Arg164GlufsTer27) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962604G>A | CA513688271 | COMT | c.78G>A (p.Leu26=) c.-73G>A (n.-73G>A) n.274G>A c.192G>A (p.Leu64=) c.489G>A (p.Leu163=) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962604G>C | CA513688267 | COMT | c.78G>C (p.Leu26=) c.-73G>C (n.-73G>C) n.274G>C c.192G>C (p.Leu64=) c.489G>C (p.Leu163=) | dbSNP |
| 22 | g.19962604G= | CA2396125205 | COMT | c.78G= (p.Leu26=) c.-73G= (n.-73G=) n.274G= c.192G= (p.Leu64=) c.489G= (p.Leu163=) | |
| 22 | g.19962604G>T | CA513688263 | COMT | c.78G>T (p.Leu26=) c.-73G>T (n.-73G>T) n.274G>T c.192G>T (p.Leu64=) c.489G>T (p.Leu163=) | gnomAD v4 |
| 22 | g.19962605A>C | CA513688280 | COMT | c.79A>C (p.Arg27=) c.-72A>C (n.-72A>C) n.275A>C c.193A>C (p.Arg65=) c.490A>C (p.Arg164=) | |
| 22 | g.19962605A>G | CA410688510 | COMT | c.79A>G (p.Arg27Gly) c.-72A>G (n.-72A>G) n.275A>G c.193A>G (p.Arg65Gly) c.490A>G (p.Arg164Gly) | |
| 22 | g.19962605A>T | CA410688511 | COMT | c.79A>T (p.Arg27Trp) c.-72A>T (n.-72A>T) n.275A>T c.193A>T (p.Arg65Trp) c.490A>T (p.Arg164Trp) | gnomAD v4 |
| 22 | g.19962605_19962606delinsAG | CA2396125206 | COMT | c.79_80delinsAG (p.Arg27=) c.-72_-71delinsAG (n.-72_-71delinsAG) n.275_276delinsAG c.193_194delinsAG (p.Arg65=) c.490_491delinsAG (p.Arg164=) | |
| 22 | g.19962606G>A | CA410688514 | COMT | c.80G>A (p.Arg27Lys) c.-71G>A (n.-71G>A) n.276G>A c.194G>A (p.Arg65Lys) c.491G>A (p.Arg164Lys) | |
| 22 | g.19962606G>C | CA410688512 | COMT | c.80G>C (p.Arg27Thr) c.-71G>C (n.-71G>C) n.276G>C c.194G>C (p.Arg65Thr) c.491G>C (p.Arg164Thr) | |
| 22 | g.19962606G>T | CA410688513 | COMT | c.80G>T (p.Arg27Met) c.-71G>T (n.-71G>T) n.276G>T c.194G>T (p.Arg65Met) c.491G>T (p.Arg164Met) | |
| 22 | g.19962607del | CA751481330 | COMT | c.81del (p.Arg27SerfsTer?) c.-70del (n.-70del) n.277del c.195del (p.Arg65SerfsTer?) c.492del (p.Arg164SerfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962607G>A | CA513688290 | COMT | c.81G>A (p.Arg27=) c.-70G>A (n.-70G>A) n.277G>A c.195G>A (p.Arg65=) c.492G>A (p.Arg164=) | |
| 22 | g.19962607G>C | CA410688515 | COMT | c.81G>C (p.Arg27Ser) c.-70G>C (n.-70G>C) n.277G>C c.195G>C (p.Arg65Ser) c.492G>C (p.Arg164Ser) | |
| 22 | g.19962607G>T | CA410688516 | COMT | c.81G>T (p.Arg27Ser) c.-70G>T (n.-70G>T) n.277G>T c.195G>T (p.Arg65Ser) c.492G>T (p.Arg164Ser) | |
| 22 | g.19962608C>A | CA410688517 | COMT | c.82C>A (p.His28Asn) c.-69C>A (n.-69C>A) n.278C>A c.196C>A (p.His66Asn) c.493C>A (p.His165Asn) | |
| 22 | g.19962608C>G | CA410688518 | COMT | c.82C>G (p.His28Asp) c.-69C>G (n.-69C>G) n.278C>G c.196C>G (p.His66Asp) c.493C>G (p.His165Asp) | |
| 22 | g.19962608C>T | CA410688519 | COMT | c.82C>T (p.His28Tyr) c.-69C>T (n.-69C>T) n.278C>T c.196C>T (p.His66Tyr) c.493C>T (p.His165Tyr) | |
| 22 | g.19962609A>C | CA410688520 | COMT | c.83A>C (p.His28Pro) c.-68A>C (n.-68A>C) n.279A>C c.197A>C (p.His66Pro) c.494A>C (p.His165Pro) | |
| 22 | g.19962609A>G | CA410688521 | COMT | c.83A>G (p.His28Arg) c.-68A>G (n.-68A>G) n.279A>G c.197A>G (p.His66Arg) c.494A>G (p.His165Arg) | |
| 22 | g.19962609A>T | CA410688522 | COMT | c.83A>T (p.His28Leu) c.-68A>T (n.-68A>T) n.279A>T c.197A>T (p.His66Leu) c.494A>T (p.His165Leu) | |
| 22 | g.19962610C>A | CA410688523 | COMT | c.84C>A (p.His28Gln) c.-67C>A (n.-67C>A) n.280C>A c.198C>A (p.His66Gln) c.495C>A (p.His165Gln) | gnomAD v4 |
| 22 | g.19962610C>G | CA410688524 | COMT | c.84C>G (p.His28Gln) c.-67C>G (n.-67C>G) n.280C>G c.198C>G (p.His66Gln) c.495C>G (p.His165Gln) | |
| 22 | g.19962610C>T | CA513688300 | COMT | c.84C>T (p.His28=) c.-67C>T (n.-67C>T) n.280C>T c.198C>T (p.His66=) c.495C>T (p.His165=) | |
| 22 | g.19962611T>A | CA410688525 | COMT | c.85T>A (p.Trp29Arg) c.-66T>A (n.-66T>A) n.281T>A c.199T>A (p.Trp67Arg) c.496T>A (p.Trp166Arg) | |
| 22 | g.19962611T>C | CA410688526 | COMT | c.85T>C (p.Trp29Arg) c.-66T>C (n.-66T>C) n.281T>C c.199T>C (p.Trp67Arg) c.496T>C (p.Trp166Arg) | gnomAD v4 |
| 22 | g.19962611T>G | CA410688527 | COMT | c.85T>G (p.Trp29Gly) c.-66T>G (n.-66T>G) n.281T>G c.199T>G (p.Trp67Gly) c.496T>G (p.Trp166Gly) | |
| 22 | g.19962612G>A | CA410688528 | COMT | c.86G>A (p.Trp29Ter) c.-65G>A (n.-65G>A) n.282G>A c.200G>A (p.Trp67Ter) c.497G>A (p.Trp166Ter) | |
| 22 | g.19962612G>C | CA410688530 | COMT | c.86G>C (p.Trp29Ser) c.-65G>C (n.-65G>C) n.282G>C c.200G>C (p.Trp67Ser) c.497G>C (p.Trp166Ser) | dbSNP gnomAD v4 |
| 22 | g.19962612G= | CA2396125207 | COMT | c.86G= (p.Trp29=) c.-65G= (n.-65G=) n.282G= c.200G= (p.Trp67=) c.497G= (p.Trp166=) | |
| 22 | g.19962612G>T | CA410688529 | COMT | c.86G>T (p.Trp29Leu) c.-65G>T (n.-65G>T) n.282G>T c.200G>T (p.Trp67Leu) c.497G>T (p.Trp166Leu) | gnomAD v4 |
| 22 | g.19962615del | CA2655332761 | COMT | c.89del (p.Gly30AlafsTer?) c.-62del (n.-62del) n.285del c.203del (p.Gly68AlafsTer?) c.500del (p.Gly167AlafsTer?) | gnomAD v4 |
| 22 | g.19962613G>A | CA410688531 | COMT | c.87G>A (p.Trp29Ter) c.-64G>A (n.-64G>A) n.283G>A c.201G>A (p.Trp67Ter) c.498G>A (p.Trp166Ter) | |
| 22 | g.19962613G>C | CA410688532 | COMT | c.87G>C (p.Trp29Cys) c.-64G>C (n.-64G>C) n.283G>C c.201G>C (p.Trp67Cys) c.498G>C (p.Trp166Cys) | |
| 22 | g.19962613G>T | CA410688533 | COMT | c.87G>T (p.Trp29Cys) c.-64G>T (n.-64G>T) n.283G>T c.201G>T (p.Trp67Cys) c.498G>T (p.Trp166Cys) | |
| 22 | g.19962614G>A | CA322120777 | COMT | c.88G>A (p.Gly30Ser) c.-63G>A (n.-63G>A) n.284G>A c.202G>A (p.Gly68Ser) c.499G>A (p.Gly167Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962614G>C | CA410688534 | COMT | c.88G>C (p.Gly30Arg) c.-63G>C (n.-63G>C) n.284G>C c.202G>C (p.Gly68Arg) c.499G>C (p.Gly167Arg) | |
| 22 | g.19962614G= | CA2396125208 | COMT | c.88G= (p.Gly30=) c.-63G= (n.-63G=) n.284G= c.202G= (p.Gly68=) c.499G= (p.Gly167=) | |
| 22 | g.19962614G>T | CA410688535 | COMT | c.88G>T (p.Gly30Cys) c.-63G>T (n.-63G>T) n.284G>T c.202G>T (p.Gly68Cys) c.499G>T (p.Gly167Cys) | |
| 22 | g.19962615G>A | CA410688536 | COMT | c.89G>A (p.Gly30Asp) c.-62G>A (n.-62G>A) n.285G>A c.203G>A (p.Gly68Asp) c.500G>A (p.Gly167Asp) | gnomAD v4 |
| 22 | g.19962615G>C | CA410688537 | COMT | c.89G>C (p.Gly30Ala) c.-62G>C (n.-62G>C) n.285G>C c.203G>C (p.Gly68Ala) c.500G>C (p.Gly167Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962615G= | CA2396125209 | COMT | c.89G= (p.Gly30=) c.-62G= (n.-62G=) n.285G= c.203G= (p.Gly68=) c.500G= (p.Gly167=) | |
| 22 | g.19962615G>T | CA410688538 | COMT | c.89G>T (p.Gly30Val) c.-62G>T (n.-62G>T) n.285G>T c.203G>T (p.Gly68Val) c.500G>T (p.Gly167Val) | |
| 22 | g.19962616C>A | CA513688321 | COMT | c.90C>A (p.Gly30=) c.-61C>A (n.-61C>A) n.286C>A c.204C>A (p.Gly68=) c.501C>A (p.Gly167=) | |
| 22 | g.19962616C>G | CA513688319 | COMT | c.90C>G (p.Gly30=) c.-61C>G (n.-61C>G) n.286C>G c.204C>G (p.Gly68=) c.501C>G (p.Gly167=) | |
| 22 | g.19962616C>T | CA513688318 | COMT | c.90C>T (p.Gly30=) c.-61C>T (n.-61C>T) n.286C>T c.204C>T (p.Gly68=) c.501C>T (p.Gly167=) | |
| 22 | g.19962617T>A | CA410688539 | COMT | c.91T>A (p.Trp31Arg) c.-60T>A (n.-60T>A) n.287T>A c.205T>A (p.Trp69Arg) c.502T>A (p.Trp168Arg) | |
| 22 | g.19962617T>C | CA410688540 | COMT | c.91T>C (p.Trp31Arg) c.-60T>C (n.-60T>C) n.287T>C c.205T>C (p.Trp69Arg) c.502T>C (p.Trp168Arg) | gnomAD v4 |
| 22 | g.19962617T>G | CA410688541 | COMT | c.91T>G (p.Trp31Gly) c.-60T>G (n.-60T>G) n.287T>G c.205T>G (p.Trp69Gly) c.502T>G (p.Trp168Gly) | |
| 22 | g.19962618G>A | CA410688544 | COMT | c.92G>A (p.Trp31Ter) c.-59G>A (n.-59G>A) n.288G>A c.206G>A (p.Trp69Ter) c.503G>A (p.Trp168Ter) | |
| 22 | g.19962618G>C | CA410688542 | COMT | c.92G>C (p.Trp31Ser) c.-59G>C (n.-59G>C) n.288G>C c.206G>C (p.Trp69Ser) c.503G>C (p.Trp168Ser) | |
| 22 | g.19962618G>T | CA410688543 | COMT | c.92G>T (p.Trp31Leu) c.-59G>T (n.-59G>T) n.288G>T c.206G>T (p.Trp69Leu) c.503G>T (p.Trp168Leu) | |
| 22 | g.19962621del | CA2655332774 | COMT | c.95del (p.Gly32AlafsTer29) c.-56del (n.-56del) n.291del c.209del (p.Gly70AlafsTer29) c.506del (p.Gly169AlafsTer29) | gnomAD v4 |
| 22 | g.19962619G>A | CA322120779 | COMT | c.93G>A (p.Trp31Ter) c.-58G>A (n.-58G>A) n.289G>A c.207G>A (p.Trp69Ter) c.504G>A (p.Trp168Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962619G>C | CA410688545 | COMT | c.93G>C (p.Trp31Cys) c.-58G>C (n.-58G>C) n.289G>C c.207G>C (p.Trp69Cys) c.504G>C (p.Trp168Cys) | |
| 22 | g.19962619G= | CA2396125210 | COMT | c.93G= (p.Trp31=) c.-58G= (n.-58G=) n.289G= c.207G= (p.Trp69=) c.504G= (p.Trp168=) | |
| 22 | g.19962619G>T | CA410688546 | COMT | c.93G>T (p.Trp31Cys) c.-58G>T (n.-58G>T) n.289G>T c.207G>T (p.Trp69Cys) c.504G>T (p.Trp168Cys) | |
| 22 | g.19962620G>A | CA10104457 | COMT | c.94G>A (p.Gly32Ser) c.-57G>A (n.-57G>A) n.290G>A c.208G>A (p.Gly70Ser) c.505G>A (p.Gly169Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962620G>C | CA410688547 | COMT | c.94G>C (p.Gly32Arg) c.-57G>C (n.-57G>C) n.290G>C c.208G>C (p.Gly70Arg) c.505G>C (p.Gly169Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 22 | g.19962620G= | CA2396125211 | COMT | c.94G= (p.Gly32=) c.-57G= (n.-57G=) n.290G= c.208G= (p.Gly70=) c.505G= (p.Gly169=) | |
| 22 | g.19962620G>T | CA410688548 | COMT | c.94G>T (p.Gly32Cys) c.-57G>T (n.-57G>T) n.290G>T c.208G>T (p.Gly70Cys) c.505G>T (p.Gly169Cys) | |
| 22 | g.19962621G>A | CA10104458 | COMT | c.95G>A (p.Gly32Asp) c.-56G>A (n.-56G>A) n.291G>A c.209G>A (p.Gly70Asp) c.506G>A (p.Gly169Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 22 | g.19962621G>C | CA410688549 | COMT | c.95G>C (p.Gly32Ala) c.-56G>C (n.-56G>C) n.291G>C c.209G>C (p.Gly70Ala) c.506G>C (p.Gly169Ala) | |
| 22 | g.19962621G= | CA2396125212 | COMT | c.95G= (p.Gly32=) c.-56G= (n.-56G=) n.291G= c.209G= (p.Gly70=) c.506G= (p.Gly169=) | |
| 22 | g.19962621G>T | CA410688550 | COMT | c.95G>T (p.Gly32Val) c.-56G>T (n.-56G>T) n.291G>T c.209G>T (p.Gly70Val) c.506G>T (p.Gly169Val) | gnomAD v4 |
| 22 | g.19962622C>A | CA513688347 | COMT | c.96C>A (p.Gly32=) c.-55C>A (n.-55C>A) n.292C>A c.210C>A (p.Gly70=) c.507C>A (p.Gly169=) | gnomAD v4 |
| 22 | g.19962622C>G | CA513688345 | COMT | c.96C>G (p.Gly32=) c.-55C>G (n.-55C>G) n.292C>G c.210C>G (p.Gly70=) c.507C>G (p.Gly169=) | |
| 22 | g.19962622C>T | CA513688343 | COMT | c.96C>T (p.Gly32=) c.-55C>T (n.-55C>T) n.292C>T c.210C>T (p.Gly70=) c.507C>T (p.Gly169=) | COSMIC |
| 22 | g.19962623C>A | CA410688551 | COMT | c.97C>A (p.Leu33Met) c.-54C>A (n.-54C>A) n.293C>A c.211C>A (p.Leu71Met) c.508C>A (p.Leu170Met) | gnomAD v4 |
| 22 | g.19962623C= | CA2396125213 | COMT | c.97C= (p.Leu33=) c.-54C= (n.-54C=) n.293C= c.211C= (p.Leu71=) c.508C= (p.Leu170=) | |
| 22 | g.19962623C>G | CA410688552 | COMT | c.97C>G (p.Leu33Val) c.-54C>G (n.-54C>G) n.293C>G c.211C>G (p.Leu71Val) c.508C>G (p.Leu170Val) | |
| 22 | g.19962623C>T | CA513688348 | COMT | c.97C>T (p.Leu33=) c.-54C>T (n.-54C>T) n.293C>T c.211C>T (p.Leu71=) c.508C>T (p.Leu170=) | ClinVar dbSNP gnomAD v4 |
| 22 | g.19962624T>A | CA410688555 | COMT | c.98T>A (p.Leu33Gln) c.-53T>A (n.-53T>A) n.294T>A c.212T>A (p.Leu71Gln) c.509T>A (p.Leu170Gln) | gnomAD v4 |
| 22 | g.19962624T>C | CA410688554 | COMT | c.98T>C (p.Leu33Pro) c.-53T>C (n.-53T>C) n.294T>C c.212T>C (p.Leu71Pro) c.509T>C (p.Leu170Pro) | dbSNP gnomAD v4 |
| 22 | g.19962624T>G | CA410688553 | COMT | c.98T>G (p.Leu33Arg) c.-53T>G (n.-53T>G) n.294T>G c.212T>G (p.Leu71Arg) c.509T>G (p.Leu170Arg) | |
| 22 | g.19962624T= | CA2396125214 | COMT | c.98T= (p.Leu33=) c.-53T= (n.-53T=) n.294T= c.212T= (p.Leu71=) c.509T= (p.Leu170=) | |
| 22 | g.19962624dup | CA10104459 | COMT | c.98dup (p.Cys34ValfsTer20) c.-53dup (n.-53dup) n.294dup c.212dup (p.Cys72ValfsTer20) c.509dup (p.Cys171ValfsTer20) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962625G>A | CA322120783 | COMT | c.99G>A (p.Leu33=) c.-52G>A (n.-52G>A) n.295G>A c.213G>A (p.Leu71=) c.510G>A (p.Leu170=) | dbSNP gnomAD v2 gnomAD v4 |
| 22 | g.19962625G>C | CA513688362 | COMT | c.99G>C (p.Leu33=) c.-52G>C (n.-52G>C) n.295G>C c.213G>C (p.Leu71=) c.510G>C (p.Leu170=) | |
| 22 | g.19962625G= | CA2396125215 | COMT | c.99G= (p.Leu33=) c.-52G= (n.-52G=) n.295G= c.213G= (p.Leu71=) c.510G= (p.Leu170=) | |
| 22 | g.19962625G>T | CA513688361 | COMT | c.99G>T (p.Leu33=) c.-52G>T (n.-52G>T) n.295G>T c.213G>T (p.Leu71=) c.510G>T (p.Leu170=) | |
| 22 | g.19962626T>A | CA410688557 | COMT | c.100T>A (p.Cys34Ser) c.-51T>A (n.-51T>A) n.296T>A c.214T>A (p.Cys72Ser) c.511T>A (p.Cys171Ser) | |
| 22 | g.19962626T>C | CA410688556 | COMT | c.100T>C (p.Cys34Arg) c.-51T>C (n.-51T>C) n.296T>C c.214T>C (p.Cys72Arg) c.511T>C (p.Cys171Arg) | |
| 22 | g.19962626T>G | CA410688558 | COMT | c.100T>G (p.Cys34Gly) c.-51T>G (n.-51T>G) n.296T>G c.214T>G (p.Cys72Gly) c.511T>G (p.Cys171Gly) | |
| 22 | g.19962627G>A | CA410688559 | COMT | c.101G>A (p.Cys34Tyr) c.-50G>A (n.-50G>A) n.297G>A c.215G>A (p.Cys72Tyr) c.512G>A (p.Cys171Tyr) | gnomAD v4 |
| 22 | g.19962627G>C | CA322120785 | COMT | c.101G>C (p.Cys34Ser) c.-50G>C (n.-50G>C) n.297G>C c.215G>C (p.Cys72Ser) c.512G>C (p.Cys171Ser) | dbSNP |
| 22 | g.19962627G= | CA1139772249 | COMT | c.101G= (p.Cys34=) c.-50G= (n.-50G=) n.297G= c.215G= (p.Cys72=) c.512G= (p.Cys171=) | |
| 22 | g.19962627G>T | CA410688560 | COMT | c.101G>T (p.Cys34Phe) c.-50G>T (n.-50G>T) n.297G>T c.215G>T (p.Cys72Phe) c.512G>T (p.Cys171Phe) | |
| 22 | g.19962628C>A | CA410688561 | COMT | c.102C>A (p.Cys34Ter) c.-49C>A (n.-49C>A) n.298C>A c.216C>A (p.Cys72Ter) c.513C>A (p.Cys171Ter) | |
| 22 | g.19962628C>G | CA410688562 | COMT | c.102C>G (p.Cys34Trp) c.-49C>G (n.-49C>G) n.298C>G c.216C>G (p.Cys72Trp) c.513C>G (p.Cys171Trp) | |
| 22 | g.19962628C>T | CA513688368 | COMT | c.102C>T (p.Cys34=) c.-49C>T (n.-49C>T) n.298C>T c.216C>T (p.Cys72=) c.513C>T (p.Cys171=) | gnomAD v4 |
| 22 | g.19962629C>A | CA410688563 | COMT | c.103C>A (p.Leu35Ile) c.-48C>A (n.-48C>A) n.299C>A c.217C>A (p.Leu73Ile) c.514C>A (p.Leu172Ile) | |
| 22 | g.19962629C= | CA2396125216 | COMT | c.103C= (p.Leu35=) c.-48C= (n.-48C=) n.299C= c.217C= (p.Leu73=) c.514C= (p.Leu172=) | |
| 22 | g.19962629C>G | CA410688564 | COMT | c.103C>G (p.Leu35Val) c.-48C>G (n.-48C>G) n.299C>G c.217C>G (p.Leu73Val) c.514C>G (p.Leu172Val) | |
| 22 | g.19962629C>T | CA10104460 | COMT | c.103C>T (p.Leu35Phe) c.-48C>T (n.-48C>T) n.299C>T c.217C>T (p.Leu73Phe) c.514C>T (p.Leu172Phe) | dbSNP ExAC |
| 22 | g.19962630T>A | CA410688565 | COMT | c.104T>A (p.Leu35His) c.-47T>A (n.-47T>A) n.300T>A c.218T>A (p.Leu73His) c.515T>A (p.Leu172His) | |
| 22 | g.19962630T>C | CA410688566 | COMT | c.104T>C (p.Leu35Pro) c.-47T>C (n.-47T>C) n.300T>C c.218T>C (p.Leu73Pro) c.515T>C (p.Leu172Pro) | |
| 22 | g.19962630T>G | CA410688567 | COMT | c.104T>G (p.Leu35Arg) c.-47T>G (n.-47T>G) n.300T>G c.218T>G (p.Leu73Arg) c.515T>G (p.Leu172Arg) | |
| 22 | g.19962631T>A | CA513688380 | COMT | c.105T>A (p.Leu35=) c.-46T>A (n.-46T>A) n.301T>A c.219T>A (p.Leu73=) c.516T>A (p.Leu172=) | |
| 22 | g.19962631T>C | CA513688379 | COMT | c.105T>C (p.Leu35=) c.-46T>C (n.-46T>C) n.301T>C c.219T>C (p.Leu73=) c.516T>C (p.Leu172=) | dbSNP |
| 22 | g.19962631T>G | CA513688377 | COMT | c.105T>G (p.Leu35=) c.-46T>G (n.-46T>G) n.301T>G c.219T>G (p.Leu73=) c.516T>G (p.Leu172=) | |
| 22 | g.19962631T= | CA2396125217 | COMT | c.105T= (p.Leu35=) c.-46T= (n.-46T=) n.301T= c.219T= (p.Leu73=) c.516T= (p.Leu172=) | |
| 22 | g.19962632A= | CA2396125218 | COMT | c.106A= (p.Ile36=) c.-45A= (n.-45A=) n.302A= c.220A= (p.Ile74=) c.517A= (p.Ile173=) | |
| 22 | g.19962632A>C | CA10104461 | COMT | c.106A>C (p.Ile36Leu) c.-45A>C (n.-45A>C) n.302A>C c.220A>C (p.Ile74Leu) c.517A>C (p.Ile173Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.19962632A>G | CA410688569 | COMT | c.106A>G (p.Ile36Val) c.-45A>G (n.-45A>G) n.302A>G c.220A>G (p.Ile74Val) c.517A>G (p.Ile173Val) | gnomAD v4 |
| 22 | g.19962632A>T | CA410688568 | COMT | c.106A>T (p.Ile36Phe) c.-45A>T (n.-45A>T) n.302A>T c.220A>T (p.Ile74Phe) c.517A>T (p.Ile173Phe) | |
| 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) |