Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
22 | g.19962734G>A | CA10104485 | COMT | c.208G>A (p.Gly70Arg) c.58G>A (p.Gly20Arg) n.56G>A n.404G>A c.322G>A (p.Gly108Arg) c.619G>A (p.Gly207Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962734G>C | CA410688792 | COMT | c.208G>C (p.Gly70Arg) c.58G>C (p.Gly20Arg) n.56G>C n.404G>C c.322G>C (p.Gly108Arg) c.619G>C (p.Gly207Arg) | |
22 | g.19962734G= | CA2396125265 | COMT | c.208G= (p.Gly70=) c.58G= (p.Gly20=) n.56G= n.404G= c.322G= (p.Gly108=) c.619G= (p.Gly207=) | |
22 | g.19962734G>T | CA10104484 | COMT | c.208G>T (p.Gly70Trp) c.58G>T (p.Gly20Trp) n.56G>T n.404G>T c.322G>T (p.Gly108Trp) c.619G>T (p.Gly207Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
22 | g.19962736dup | CA2655332933 | COMT | c.210dup (p.Asn71GlufsTer10) c.60dup (p.Asn21GlufsTer10) n.58dup n.406dup c.324dup (p.Asn109GlufsTer10) c.621dup (p.Asn208GlufsTer10) | gnomAD v4 |
22 | g.19962736del | CA2396125264 | COMT | c.210del (p.Asn71ThrfsTer20) c.60del (p.Asn21ThrfsTer20) n.58del n.406del c.324del (p.Asn109ThrfsTer20) c.621del (p.Asn208ThrfsTer20) | dbSNP |
22 | g.19962734_19962737del | CA2655332934 | COMT | c.208_211del (p.Gly70ThrfsTer20) c.58_61del (p.Gly20ThrfsTer20) n.56_59del n.404_407del c.322_325del (p.Gly108ThrfsTer20) c.619_622del (p.Gly207ThrfsTer20) | gnomAD v4 |
22 | g.19962735G>A | CA410688793 | COMT | c.209G>A (p.Gly70Glu) c.59G>A (p.Gly20Glu) n.57G>A n.405G>A c.323G>A (p.Gly108Glu) c.620G>A (p.Gly207Glu) | gnomAD v4 |
22 | g.19962735G>C | CA410688794 | COMT | c.209G>C (p.Gly70Ala) c.59G>C (p.Gly20Ala) n.57G>C n.405G>C c.323G>C (p.Gly108Ala) c.620G>C (p.Gly207Ala) | |
22 | g.19962735G>T | CA410688795 | COMT | c.209G>T (p.Gly70Val) c.59G>T (p.Gly20Val) n.57G>T n.405G>T c.323G>T (p.Gly108Val) c.620G>T (p.Gly207Val) | |
22 | g.19962736G>A | CA513688070 | COMT | c.210G>A (p.Gly70=) c.60G>A (p.Gly20=) n.58G>A n.406G>A c.324G>A (p.Gly108=) c.621G>A (p.Gly207=) | dbSNP gnomAD v4 |
22 | g.19962736G>C | CA513688068 | COMT | c.210G>C (p.Gly70=) c.60G>C (p.Gly20=) n.58G>C n.406G>C c.324G>C (p.Gly108=) c.621G>C (p.Gly207=) | gnomAD v4 |
22 | g.19962736G= | CA2396125266 | COMT | c.210G= (p.Gly70=) c.60G= (p.Gly20=) n.58G= n.406G= c.324G= (p.Gly108=) c.621G= (p.Gly207=) | |
22 | g.19962736G>T | CA513688065 | COMT | c.210G>T (p.Gly70=) c.60G>T (p.Gly20=) n.58G>T n.406G>T c.324G>T (p.Gly108=) c.621G>T (p.Gly207=) | gnomAD v4 |
22 | g.19962737A>C | CA410688796 | COMT | c.211A>C (p.Asn71His) c.61A>C (p.Asn21His) n.59A>C n.407A>C c.325A>C (p.Asn109His) c.622A>C (p.Asn208His) | |
22 | g.19962737A>G | CA410688797 | COMT | c.211A>G (p.Asn71Asp) c.61A>G (p.Asn21Asp) n.59A>G n.407A>G c.325A>G (p.Asn109Asp) c.622A>G (p.Asn208Asp) | |
22 | g.19962737A>T | CA410688798 | COMT | c.211A>T (p.Asn71Tyr) c.61A>T (p.Asn21Tyr) n.59A>T n.407A>T c.325A>T (p.Asn109Tyr) c.622A>T (p.Asn208Tyr) | |
22 | g.19962738A>C | CA410688801 | COMT | c.212A>C (p.Asn71Thr) c.62A>C (p.Asn21Thr) n.60A>C n.408A>C c.326A>C (p.Asn109Thr) c.623A>C (p.Asn208Thr) | |
22 | g.19962738A>G | CA410688800 | COMT | c.212A>G (p.Asn71Ser) c.62A>G (p.Asn21Ser) n.60A>G n.408A>G c.326A>G (p.Asn109Ser) c.623A>G (p.Asn208Ser) | |
22 | g.19962738A>T | CA410688799 | COMT | c.212A>T (p.Asn71Ile) c.62A>T (p.Asn21Ile) n.60A>T n.408A>T c.326A>T (p.Asn109Ile) c.623A>T (p.Asn208Ile) | |
22 | g.19962739del | CA2655332945 | COMT | c.213del (p.Asn71LysfsTer20) c.63del (p.Asn21LysfsTer20) n.61del n.409del c.327del (p.Asn109LysfsTer20) c.624del (p.Asn208LysfsTer20) | gnomAD v4 |
22 | g.19962739C>A | CA410688802 | COMT | c.213C>A (p.Asn71Lys) c.63C>A (p.Asn21Lys) n.61C>A n.409C>A c.327C>A (p.Asn109Lys) c.624C>A (p.Asn208Lys) | |
22 | g.19962739C= | CA2396125267 | COMT | c.213C= (p.Asn71=) c.63C= (p.Asn21=) n.61C= n.409C= c.327C= (p.Asn109=) c.624C= (p.Asn208=) | |
22 | g.19962739C>G | CA410688803 | COMT | c.213C>G (p.Asn71Lys) c.63C>G (p.Asn21Lys) n.61C>G n.409C>G c.327C>G (p.Asn109Lys) c.624C>G (p.Asn208Lys) | |
22 | g.19962739C>T | CA10104486 | COMT | c.213C>T (p.Asn71=) c.63C>T (p.Asn21=) n.61C>T n.409C>T c.327C>T (p.Asn109=) c.624C>T (p.Asn208=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962739_19962740insA | CA2655332952 | COMT | c.213_214insA (p.Ala72SerfsTer9) c.63_64insA (p.Ala22SerfsTer9) n.61_62insA n.409_410insA c.327_328insA (p.Ala110SerfsTer9) c.624_625insA (p.Ala209SerfsTer9) | gnomAD v4 |
22 | g.19962740G>A | CA10104487 | COMT | c.214G>A (p.Ala72Thr) c.64G>A (p.Ala22Thr) n.62G>A n.410G>A c.328G>A (p.Ala110Thr) c.625G>A (p.Ala209Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962740G>C | CA410688806 | COMT | c.214G>C (p.Ala72Pro) c.64G>C (p.Ala22Pro) n.62G>C n.410G>C c.328G>C (p.Ala110Pro) c.625G>C (p.Ala209Pro) | |
22 | g.19962740G= | CA1139772245 | COMT | c.214G= (p.Ala72=) c.64G= (p.Ala22=) n.62G= n.410G= c.328G= (p.Ala110=) c.625G= (p.Ala209=) | |
22 | g.19962740G>T | CA127289 | COMT | c.214G>T (p.Ala72Ser) c.64G>T (p.Ala22Ser) n.62G>T n.410G>T c.328G>T (p.Ala110Ser) c.625G>T (p.Ala209Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962741C>A | CA410688810 | COMT | c.215C>A (p.Ala72Glu) c.65C>A (p.Ala22Glu) n.63C>A n.411C>A c.329C>A (p.Ala110Glu) c.626C>A (p.Ala209Glu) | |
22 | g.19962741C>G | CA410688811 | COMT | c.215C>G (p.Ala72Gly) c.65C>G (p.Ala22Gly) n.63C>G n.411C>G c.329C>G (p.Ala110Gly) c.626C>G (p.Ala209Gly) | |
22 | g.19962741C>T | CA410688813 | COMT | c.215C>T (p.Ala72Val) c.65C>T (p.Ala22Val) n.63C>T n.411C>T c.329C>T (p.Ala110Val) c.626C>T (p.Ala209Val) | |
22 | g.19962741_19962744del | CA2655332960 | COMT | c.215_218del (p.Ala72GlyfsTer18) c.65_68del (p.Ala22GlyfsTer18) n.63_66del n.411_414del c.329_332del (p.Ala110GlyfsTer18) c.626_629del (p.Ala209GlyfsTer18) | gnomAD v4 |
22 | g.19962742A>C | CA513688101 | COMT | c.216A>C (p.Ala72=) c.66A>C (p.Ala22=) n.64A>C n.412A>C c.330A>C (p.Ala110=) c.627A>C (p.Ala209=) | |
22 | g.19962742A>G | CA513688099 | COMT | c.216A>G (p.Ala72=) c.66A>G (p.Ala22=) n.64A>G n.412A>G c.330A>G (p.Ala110=) c.627A>G (p.Ala209=) | |
22 | g.19962742A>T | CA513688097 | COMT | c.216A>T (p.Ala72=) c.66A>T (p.Ala22=) n.64A>T n.412A>T c.330A>T (p.Ala110=) c.627A>T (p.Ala209=) | |
22 | g.19962743C>A | CA410688814 | COMT | c.217C>A (p.Gln73Lys) c.67C>A (p.Gln23Lys) n.65C>A n.413C>A c.331C>A (p.Gln111Lys) c.628C>A (p.Gln210Lys) | |
22 | g.19962743C= | CA2396125268 | COMT | c.217C= (p.Gln73=) c.67C= (p.Gln23=) n.65C= n.413C= c.331C= (p.Gln111=) c.628C= (p.Gln210=) | |
22 | g.19962743C>G | CA410688815 | COMT | c.217C>G (p.Gln73Glu) c.67C>G (p.Gln23Glu) n.65C>G n.413C>G c.331C>G (p.Gln111Glu) c.628C>G (p.Gln210Glu) | |
22 | g.19962743C>T | CA410688817 | COMT | c.217C>T (p.Gln73Ter) c.67C>T (p.Gln23Ter) n.65C>T n.413C>T c.331C>T (p.Gln111Ter) c.628C>T (p.Gln210Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962744A= | CA2396125269 | COMT | c.218A= (p.Gln73=) c.68A= (p.Gln23=) n.66A= n.414A= c.332A= (p.Gln111=) c.629A= (p.Gln210=) | |
22 | g.19962744A>C | CA410688823 | COMT | c.218A>C (p.Gln73Pro) c.68A>C (p.Gln23Pro) n.66A>C n.414A>C c.332A>C (p.Gln111Pro) c.629A>C (p.Gln210Pro) | |
22 | g.19962744A>G | CA410688821 | COMT | c.218A>G (p.Gln73Arg) c.68A>G (p.Gln23Arg) n.66A>G n.414A>G c.332A>G (p.Gln111Arg) c.629A>G (p.Gln210Arg) | dbSNP |
22 | g.19962744A>T | CA410688819 | COMT | c.218A>T (p.Gln73Leu) c.68A>T (p.Gln23Leu) n.66A>T n.414A>T c.332A>T (p.Gln111Leu) c.629A>T (p.Gln210Leu) | |
22 | g.19962745G>A | CA10104488 | COMT | c.219G>A (p.Gln73=) c.69G>A (p.Gln23=) n.67G>A n.415G>A c.333G>A (p.Gln111=) c.630G>A (p.Gln210=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
22 | g.19962745G>C | CA410688825 | COMT | c.219G>C (p.Gln73His) c.69G>C (p.Gln23His) n.67G>C n.415G>C c.333G>C (p.Gln111His) c.630G>C (p.Gln210His) | gnomAD v4 |
22 | g.19962745G= | CA2396125270 | COMT | c.219G= (p.Gln73=) c.69G= (p.Gln23=) n.67G= n.415G= c.333G= (p.Gln111=) c.630G= (p.Gln210=) | |
22 | g.19962745G>T | CA410688827 | COMT | c.219G>T (p.Gln73His) c.69G>T (p.Gln23His) n.67G>T n.415G>T c.333G>T (p.Gln111His) c.630G>T (p.Gln210His) | |
22 | g.19962746A>C | CA410688830 | COMT | c.220A>C (p.Ser74Arg) c.70A>C (p.Ser24Arg) n.68A>C n.416A>C c.334A>C (p.Ser112Arg) c.631A>C (p.Ser211Arg) | |
22 | g.19962746A>G | CA410688832 | COMT | c.220A>G (p.Ser74Gly) c.70A>G (p.Ser24Gly) n.68A>G n.416A>G c.334A>G (p.Ser112Gly) c.631A>G (p.Ser211Gly) | |
22 | g.19962746A>T | CA410688834 | COMT | c.220A>T (p.Ser74Cys) c.70A>T (p.Ser24Cys) n.68A>T n.416A>T c.334A>T (p.Ser112Cys) c.631A>T (p.Ser211Cys) | |
22 | g.19962747G>A | CA410688836 | COMT | c.221G>A (p.Ser74Asn) c.71G>A (p.Ser24Asn) n.69G>A n.417G>A c.335G>A (p.Ser112Asn) c.632G>A (p.Ser211Asn) | |
22 | g.19962747G>C | CA410688838 | COMT | c.221G>C (p.Ser74Thr) c.71G>C (p.Ser24Thr) n.69G>C n.417G>C c.335G>C (p.Ser112Thr) c.632G>C (p.Ser211Thr) | |
22 | g.19962747G>T | CA410688840 | COMT | c.221G>T (p.Ser74Ile) c.71G>T (p.Ser24Ile) n.69G>T n.417G>T c.335G>T (p.Ser112Ile) c.632G>T (p.Ser211Ile) | gnomAD v4 |
22 | g.19962748C>A | CA410688842 | COMT | c.222C>A (p.Ser74Arg) c.72C>A (p.Ser24Arg) n.70C>A n.418C>A c.336C>A (p.Ser112Arg) c.633C>A (p.Ser211Arg) | gnomAD v4 |
22 | g.19962748C= | CA2396125271 | COMT | c.222C= (p.Ser74=) c.72C= (p.Ser24=) n.70C= n.418C= c.336C= (p.Ser112=) c.633C= (p.Ser211=) | |
22 | g.19962748C>G | CA410688844 | COMT | c.222C>G (p.Ser74Arg) c.72C>G (p.Ser24Arg) n.70C>G n.418C>G c.336C>G (p.Ser112Arg) c.633C>G (p.Ser211Arg) | |
22 | g.19962748C>T | CA513688117 | COMT | c.222C>T (p.Ser74=) c.72C>T (p.Ser24=) n.70C>T n.418C>T c.336C>T (p.Ser112=) c.633C>T (p.Ser211=) | dbSNP gnomAD v4 |
22 | g.19962749G>A | CA322120820 | COMT | c.223G>A (p.Val75Met) c.73G>A (p.Val25Met) n.71G>A n.419G>A c.337G>A (p.Val113Met) c.634G>A (p.Val212Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962749G>C | CA410688847 | COMT | c.223G>C (p.Val75Leu) c.73G>C (p.Val25Leu) n.71G>C n.419G>C c.337G>C (p.Val113Leu) c.634G>C (p.Val212Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962749G= | CA2396125272 | COMT | c.223G= (p.Val75=) c.73G= (p.Val25=) n.71G= n.419G= c.337G= (p.Val113=) c.634G= (p.Val212=) | |
22 | g.19962749G>T | CA410688848 | COMT | c.223G>T (p.Val75Leu) c.73G>T (p.Val25Leu) n.71G>T n.419G>T c.337G>T (p.Val113Leu) c.634G>T (p.Val212Leu) | |
22 | g.19962750T>A | CA410688850 | COMT | c.224T>A (p.Val75Glu) c.74T>A (p.Val25Glu) n.72T>A n.420T>A c.338T>A (p.Val113Glu) c.635T>A (p.Val212Glu) | |
22 | g.19962750T>C | CA10104489 | COMT | c.224T>C (p.Val75Ala) c.74T>C (p.Val25Ala) n.72T>C n.420T>C c.338T>C (p.Val113Ala) c.635T>C (p.Val212Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962750T>G | CA410688849 | COMT | c.224T>G (p.Val75Gly) c.74T>G (p.Val25Gly) n.72T>G n.420T>G c.338T>G (p.Val113Gly) c.635T>G (p.Val212Gly) | |
22 | g.19962750T= | CA2396125273 | COMT | c.224T= (p.Val75=) c.74T= (p.Val25=) n.72T= n.420T= c.338T= (p.Val113=) c.635T= (p.Val212=) | |
22 | g.19962751G>A | CA513688129 | COMT | c.225G>A (p.Val75=) c.75G>A (p.Val25=) n.73G>A n.421G>A c.339G>A (p.Val113=) c.636G>A (p.Val212=) | |
22 | g.19962751G>C | CA513688128 | COMT | c.225G>C (p.Val75=) c.75G>C (p.Val25=) n.73G>C n.421G>C c.339G>C (p.Val113=) c.636G>C (p.Val212=) | |
22 | g.19962751G>T | CA513688127 | COMT | c.225G>T (p.Val75=) c.75G>T (p.Val25=) n.73G>T n.421G>T c.339G>T (p.Val113=) c.636G>T (p.Val212=) | |
22 | g.19962752C>A | CA410688852 | COMT | c.226C>A (p.Leu76Met) c.76C>A (p.Leu26Met) n.74C>A n.422C>A c.340C>A (p.Leu114Met) c.637C>A (p.Leu213Met) | |
22 | g.19962752C>G | CA410688853 | COMT | c.226C>G (p.Leu76Val) c.76C>G (p.Leu26Val) n.74C>G n.422C>G c.340C>G (p.Leu114Val) c.637C>G (p.Leu213Val) | |
22 | g.19962752C>T | CA513688133 | COMT | c.226C>T (p.Leu76=) c.76C>T (p.Leu26=) n.74C>T n.422C>T c.340C>T (p.Leu114=) c.637C>T (p.Leu213=) | |
22 | g.19962753T>A | CA10104490 | COMT | c.227T>A (p.Leu76Gln) c.77T>A (p.Leu26Gln) n.75T>A n.423T>A c.341T>A (p.Leu114Gln) c.638T>A (p.Leu213Gln) | dbSNP ExAC gnomAD v2 |
22 | g.19962753T>C | CA410688857 | COMT | c.227T>C (p.Leu76Pro) c.77T>C (p.Leu26Pro) n.75T>C n.423T>C c.341T>C (p.Leu114Pro) c.638T>C (p.Leu213Pro) | |
22 | g.19962753T>G | CA410688860 | COMT | c.227T>G (p.Leu76Arg) c.77T>G (p.Leu26Arg) n.75T>G n.423T>G c.341T>G (p.Leu114Arg) c.638T>G (p.Leu213Arg) | |
22 | g.19962753T= | CA2396125274 | COMT | c.227T= (p.Leu76=) c.77T= (p.Leu26=) n.75T= n.423T= c.341T= (p.Leu114=) c.638T= (p.Leu213=) | |
22 | g.19962754G>A | CA513688140 | COMT | c.228G>A (p.Leu76=) c.78G>A (p.Leu26=) n.76G>A n.424G>A c.342G>A (p.Leu114=) c.639G>A (p.Leu213=) | dbSNP gnomAD v3 gnomAD v4 |
22 | g.19962754G>C | CA513688139 | COMT | c.228G>C (p.Leu76=) c.78G>C (p.Leu26=) n.76G>C n.424G>C c.342G>C (p.Leu114=) c.639G>C (p.Leu213=) | |
22 | g.19962754G= | CA2396125275 | COMT | c.228G= (p.Leu76=) c.78G= (p.Leu26=) n.76G= n.424G= c.342G= (p.Leu114=) c.639G= (p.Leu213=) | |
22 | g.19962754G>T | CA513688138 | COMT | c.228G>T (p.Leu76=) c.78G>T (p.Leu26=) n.76G>T n.424G>T c.342G>T (p.Leu114=) c.639G>T (p.Leu213=) | |
22 | g.19962755G>A | CA410688862 | COMT | c.229G>A (p.Glu77Lys) c.79G>A (p.Glu27Lys) n.77G>A n.425G>A c.343G>A (p.Glu115Lys) c.640G>A (p.Glu214Lys) | dbSNP gnomAD v4 |
22 | g.19962755G>C | CA410688864 | COMT | c.229G>C (p.Glu77Gln) c.79G>C (p.Glu27Gln) n.77G>C n.425G>C c.343G>C (p.Glu115Gln) c.640G>C (p.Glu214Gln) | |
22 | g.19962755G= | CA2396125276 | COMT | c.229G= (p.Glu77=) c.79G= (p.Glu27=) n.77G= n.425G= c.343G= (p.Glu115=) c.640G= (p.Glu214=) | |
22 | g.19962755G>T | CA410688866 | COMT | c.229G>T (p.Glu77Ter) c.79G>T (p.Glu27Ter) n.77G>T n.425G>T c.343G>T (p.Glu115Ter) c.640G>T (p.Glu214Ter) | |
22 | g.19962756A= | CA2396125277 | COMT | c.230A= (p.Glu77=) c.80A= (p.Glu27=) n.78A= n.426A= c.344A= (p.Glu115=) c.641A= (p.Glu214=) | |
22 | g.19962756A>C | CA410688869 | COMT | c.230A>C (p.Glu77Ala) c.80A>C (p.Glu27Ala) n.78A>C n.426A>C c.344A>C (p.Glu115Ala) c.641A>C (p.Glu214Ala) | |
22 | g.19962756A>G | CA410688870 | COMT | c.230A>G (p.Glu77Gly) c.80A>G (p.Glu27Gly) n.78A>G n.426A>G c.344A>G (p.Glu115Gly) c.641A>G (p.Glu214Gly) | dbSNP gnomAD v4 |
22 | g.19962756A>T | CA410688872 | COMT | c.230A>T (p.Glu77Val) c.80A>T (p.Glu27Val) n.78A>T n.426A>T c.344A>T (p.Glu115Val) c.641A>T (p.Glu214Val) | |
22 | g.19962757G>A | CA513688152 | COMT | c.231G>A (p.Glu77=) c.81G>A (p.Glu27=) n.79G>A n.427G>A c.345G>A (p.Glu115=) c.642G>A (p.Glu214=) | ClinVar dbSNP |
22 | g.19962757G>C | CA410688873 | COMT | c.231G>C (p.Glu77Asp) c.81G>C (p.Glu27Asp) n.79G>C n.427G>C c.345G>C (p.Glu115Asp) c.642G>C (p.Glu214Asp) | |
22 | g.19962757G= | CA2396125278 | COMT | c.231G= (p.Glu77=) c.81G= (p.Glu27=) n.79G= n.427G= c.345G= (p.Glu115=) c.642G= (p.Glu214=) | |
22 | g.19962757G>T | CA410688875 | COMT | c.231G>T (p.Glu77Asp) c.81G>T (p.Glu27Asp) n.79G>T n.427G>T c.345G>T (p.Glu115Asp) c.642G>T (p.Glu214Asp) | |
22 | g.19962758G>A | CA410688879 | COMT | c.232G>A (p.Ala78Thr) c.82G>A (p.Ala28Thr) n.80G>A n.428G>A c.346G>A (p.Ala116Thr) c.643G>A (p.Ala215Thr) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.19962758G>C | CA410688880 | COMT | c.232G>C (p.Ala78Pro) c.82G>C (p.Ala28Pro) n.80G>C n.428G>C c.346G>C (p.Ala116Pro) c.643G>C (p.Ala215Pro) | |
22 | g.19962758G= | CA2396125279 | COMT | c.232G= (p.Ala78=) c.82G= (p.Ala28=) n.80G= n.428G= c.346G= (p.Ala116=) c.643G= (p.Ala215=) | |
22 | g.19962758G>T | CA410688877 | COMT | c.232G>T (p.Ala78Ser) c.82G>T (p.Ala28Ser) n.80G>T n.428G>T c.346G>T (p.Ala116Ser) c.643G>T (p.Ala215Ser) | |
22 | g.19962759C>A | CA410688882 | COMT | c.233C>A (p.Ala78Asp) c.83C>A (p.Ala28Asp) n.81C>A n.429C>A c.347C>A (p.Ala116Asp) c.644C>A (p.Ala215Asp) | |
22 | g.19962759C>G | CA410688886 | COMT | c.233C>G (p.Ala78Gly) c.83C>G (p.Ala28Gly) n.81C>G n.429C>G c.347C>G (p.Ala116Gly) c.644C>G (p.Ala215Gly) | |
22 | g.19962759C>T | CA410688884 | COMT | c.233C>T (p.Ala78Val) c.83C>T (p.Ala28Val) n.81C>T n.429C>T c.347C>T (p.Ala116Val) c.644C>T (p.Ala215Val) | gnomAD v4 |
22 | g.19962760dup | CA2842698651 | COMT | c.234dup (p.Ile79HisfsTer2) c.84dup (p.Ile29HisfsTer2) n.82dup n.430dup c.348dup (p.Ile117HisfsTer2) c.645dup (p.Ile216HisfsTer2) | |
22 | g.19962760C>A | CA513688164 | COMT | c.234C>A (p.Ala78=) c.84C>A (p.Ala28=) n.82C>A n.430C>A c.348C>A (p.Ala116=) c.645C>A (p.Ala215=) | |
22 | g.19962760C>G | CA513688163 | COMT | c.234C>G (p.Ala78=) c.84C>G (p.Ala28=) n.82C>G n.430C>G c.348C>G (p.Ala116=) c.645C>G (p.Ala215=) | |
22 | g.19962760C>T | CA513688162 | COMT | c.234C>T (p.Ala78=) c.84C>T (p.Ala28=) n.82C>T n.430C>T c.348C>T (p.Ala116=) c.645C>T (p.Ala215=) | |
22 | g.19962761A= | CA2396125280 | COMT | c.235A= (p.Ile79=) c.85A= (p.Ile29=) n.83A= n.431A= c.349A= (p.Ile117=) c.646A= (p.Ile216=) | |
22 | g.19962761A>C | CA410688888 | COMT | c.235A>C (p.Ile79Leu) c.85A>C (p.Ile29Leu) n.83A>C n.431A>C c.349A>C (p.Ile117Leu) c.646A>C (p.Ile216Leu) | |
22 | g.19962761A>G | CA10104491 | COMT | c.235A>G (p.Ile79Val) c.85A>G (p.Ile29Val) n.83A>G n.431A>G c.349A>G (p.Ile117Val) c.646A>G (p.Ile216Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962761A>T | CA410688890 | COMT | c.235A>T (p.Ile79Phe) c.85A>T (p.Ile29Phe) n.83A>T n.431A>T c.349A>T (p.Ile117Phe) c.646A>T (p.Ile216Phe) | |
22 | g.19962762T>A | CA410688892 | COMT | c.236T>A (p.Ile79Asn) c.86T>A (p.Ile29Asn) n.84T>A n.432T>A c.350T>A (p.Ile117Asn) c.647T>A (p.Ile216Asn) | |
22 | g.19962762T>C | CA10104492 | COMT | c.236T>C (p.Ile79Thr) c.86T>C (p.Ile29Thr) n.84T>C n.432T>C c.350T>C (p.Ile117Thr) c.647T>C (p.Ile216Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
22 | g.19962762T>G | CA410688895 | COMT | c.236T>G (p.Ile79Ser) c.86T>G (p.Ile29Ser) n.84T>G n.432T>G c.350T>G (p.Ile117Ser) c.647T>G (p.Ile216Ser) | |
22 | g.19962762T= | CA2396125281 | COMT | c.236T= (p.Ile79=) c.86T= (p.Ile29=) n.84T= n.432T= c.350T= (p.Ile117=) c.647T= (p.Ile216=) | |
22 | g.19962763T>A | CA513688175 | COMT | c.237T>A (p.Ile79=) c.87T>A (p.Ile29=) n.85T>A n.433T>A c.351T>A (p.Ile117=) c.648T>A (p.Ile216=) | |
22 | g.19962763T>C | CA513688174 | COMT | c.237T>C (p.Ile79=) c.87T>C (p.Ile29=) n.85T>C n.433T>C c.351T>C (p.Ile117=) c.648T>C (p.Ile216=) | dbSNP |
22 | g.19962763T>G | CA410688897 | COMT | c.237T>G (p.Ile79Met) c.87T>G (p.Ile29Met) n.85T>G n.433T>G c.351T>G (p.Ile117Met) c.648T>G (p.Ile216Met) | |
22 | g.19962764G>A | CA410688898 | COMT | c.238G>A (p.Asp80Asn) c.88G>A (p.Asp30Asn) n.86G>A n.434G>A c.352G>A (p.Asp118Asn) c.649G>A (p.Asp217Asn) | |
22 | g.19962764G>C | CA410688900 | COMT | c.238G>C (p.Asp80His) c.88G>C (p.Asp30His) n.86G>C n.434G>C c.352G>C (p.Asp118His) c.649G>C (p.Asp217His) | |
22 | g.19962764G>T | CA410688902 | COMT | c.238G>T (p.Asp80Tyr) c.88G>T (p.Asp30Tyr) n.86G>T n.434G>T c.352G>T (p.Asp118Tyr) c.649G>T (p.Asp217Tyr) | |
22 | g.19962765A>C | CA410688904 | COMT | c.239A>C (p.Asp80Ala) c.89A>C (p.Asp30Ala) n.87A>C n.435A>C c.353A>C (p.Asp118Ala) c.650A>C (p.Asp217Ala) | |
22 | g.19962765A>G | CA410688906 | COMT | c.239A>G (p.Asp80Gly) c.89A>G (p.Asp30Gly) n.87A>G n.435A>G c.353A>G (p.Asp118Gly) c.650A>G (p.Asp217Gly) | |
22 | g.19962765A>T | CA410688908 | COMT | c.239A>T (p.Asp80Val) c.89A>T (p.Asp30Val) n.87A>T n.435A>T c.353A>T (p.Asp118Val) c.650A>T (p.Asp217Val) | |
22 | g.19962766C>A | CA410688910 | COMT | c.240C>A (p.Asp80Glu) c.90C>A (p.Asp30Glu) n.88C>A n.436C>A c.354C>A (p.Asp118Glu) c.651C>A (p.Asp217Glu) | |
22 | g.19962766C>G | CA410688912 | COMT | c.240C>G (p.Asp80Glu) c.90C>G (p.Asp30Glu) n.88C>G n.436C>G c.354C>G (p.Asp118Glu) c.651C>G (p.Asp217Glu) | |
22 | g.19962766C>T | CA513688181 | COMT | c.240C>T (p.Asp80=) c.90C>T (p.Asp30=) n.88C>T n.436C>T c.354C>T (p.Asp118=) c.651C>T (p.Asp217=) | |
22 | g.19962767A= | CA2396125282 | COMT | c.241A= (p.Thr81=) c.91A= (p.Thr31=) n.89A= n.437A= c.355A= (p.Thr119=) c.652A= (p.Thr218=) | |
22 | g.19962767A>C | CA410688915 | COMT | c.241A>C (p.Thr81Pro) c.91A>C (p.Thr31Pro) n.89A>C n.437A>C c.355A>C (p.Thr119Pro) c.652A>C (p.Thr218Pro) | |
22 | g.19962767A>G | CA410688916 | COMT | c.241A>G (p.Thr81Ala) c.91A>G (p.Thr31Ala) n.89A>G n.437A>G c.355A>G (p.Thr119Ala) c.652A>G (p.Thr218Ala) | gnomAD v4 |
22 | g.19962767A>T | CA410688918 | COMT | c.241A>T (p.Thr81Ser) c.91A>T (p.Thr31Ser) n.89A>T n.437A>T c.355A>T (p.Thr119Ser) c.652A>T (p.Thr218Ser) | dbSNP |