Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19962654_19962665delCA2655332826COMTc.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
22g.19962661C>ACA513688450COMTc.135C>A (p.Pro45=)
c.-16C>A (n.-16C>A)
n.331C>A
c.249C>A (p.Pro83=)
c.546C>A (p.Pro182=)
22g.19962661C>GCA513688449COMTc.135C>G (p.Pro45=)
c.-16C>G (n.-16C>G)
n.331C>G
c.249C>G (p.Pro83=)
c.546C>G (p.Pro182=)
22g.19962661C>TCA513688448COMTc.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
22g.19962662A>CCA410688632COMTc.136A>C (p.Ile46Leu)
c.-15A>C (n.-15A>C)
n.332A>C
c.250A>C (p.Ile84Leu)
c.547A>C (p.Ile183Leu)
22g.19962662A>GCA410688633COMTc.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
22g.19962662A>TCA410688634COMTc.136A>T (p.Ile46Phe)
c.-15A>T (n.-15A>T)
n.332A>T
c.250A>T (p.Ile84Phe)
c.547A>T (p.Ile183Phe)
22g.19962663T>ACA10104471COMTc.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
22g.19962663T>CCA410688636COMTc.137T>C (p.Ile46Thr)
c.-14T>C (n.-14T>C)
n.333T>C
c.251T>C (p.Ile84Thr)
c.548T>C (p.Ile183Thr)
22g.19962663T>GCA410688635COMTc.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
22g.19962663T=CA2396125230COMTc.137T= (p.Ile46=)
c.-14T= (n.-14T=)
n.333T=
c.251T= (p.Ile84=)
c.548T= (p.Ile183=)
22g.19962664C>ACA513688457COMTc.138C>A (p.Ile46=)
c.-13C>A (n.-13C>A)
n.334C>A
c.252C>A (p.Ile84=)
c.549C>A (p.Ile183=)
22g.19962664C=CA2396125231COMTc.138C= (p.Ile46=)
c.-13C= (n.-13C=)
n.334C=
c.252C= (p.Ile84=)
c.549C= (p.Ile183=)
22g.19962664C>GCA410688637COMTc.138C>G (p.Ile46Met)
c.-13C>G (n.-13C>G)
n.334C>G
c.252C>G (p.Ile84Met)
c.549C>G (p.Ile183Met)
22g.19962664C>TCA513688456COMTc.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
22g.19962665C>ACA410688638COMTc.139C>A (p.His47Asn)
c.-12C>A (n.-12C>A)
n.335C>A
c.253C>A (p.His85Asn)
c.550C>A (p.His184Asn)
22g.19962665C>GCA410688639COMTc.139C>G (p.His47Asp)
c.-12C>G (n.-12C>G)
n.335C>G
c.253C>G (p.His85Asp)
c.550C>G (p.His184Asp)
22g.19962665C>TCA410688640COMTc.139C>T (p.His47Tyr)
c.-12C>T (n.-12C>T)
n.335C>T
c.253C>T (p.His85Tyr)
c.550C>T (p.His184Tyr)
22g.19962666A>CCA410688641COMTc.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
22g.19962666A>GCA410688642COMTc.140A>G (p.His47Arg)
c.-11A>G (n.-11A>G)
n.336A>G
c.254A>G (p.His85Arg)
c.551A>G (p.His184Arg)
22g.19962666A>TCA410688643COMTc.140A>T (p.His47Leu)
c.-11A>T (n.-11A>T)
n.336A>T
c.254A>T (p.His85Leu)
c.551A>T (p.His184Leu)
22g.19962667C>ACA410688644COMTc.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
22g.19962667C>GCA410688645COMTc.141C>G (p.His47Gln)
c.-10C>G (n.-10C>G)
n.337C>G
c.255C>G (p.His85Gln)
c.552C>G (p.His184Gln)
22g.19962667C>TCA513688461COMTc.141C>T (p.His47=)
c.-10C>T (n.-10C>T)
n.337C>T
c.255C>T (p.His85=)
c.552C>T (p.His184=)
22g.19962668A>CCA410688646COMTc.142A>C (p.Asn48His)
c.-9A>C (n.-9A>C)
n.338A>C
c.256A>C (p.Asn86His)
c.553A>C (p.Asn185His)
22g.19962668A>GCA410688647COMTc.142A>G (p.Asn48Asp)
c.-9A>G (n.-9A>G)
n.338A>G
c.256A>G (p.Asn86Asp)
c.553A>G (p.Asn185Asp)
22g.19962668A>TCA410688648COMTc.142A>T (p.Asn48Tyr)
c.-9A>T (n.-9A>T)
n.338A>T
c.256A>T (p.Asn86Tyr)
c.553A>T (p.Asn185Tyr)
22g.19962669A>CCA410688650COMTc.143A>C (p.Asn48Thr)
c.-8A>C (n.-8A>C)
n.339A>C
c.257A>C (p.Asn86Thr)
c.554A>C (p.Asn185Thr)
22g.19962669A>GCA410688651COMTc.143A>G (p.Asn48Ser)
c.-8A>G (n.-8A>G)
n.339A>G
c.257A>G (p.Asn86Ser)
c.554A>G (p.Asn185Ser)
22g.19962669A>TCA410688649COMTc.143A>T (p.Asn48Ile)
c.-8A>T (n.-8A>T)
n.339A>T
c.257A>T (p.Asn86Ile)
c.554A>T (p.Asn185Ile)
22g.19962670C>ACA410688652COMTc.144C>A (p.Asn48Lys)
c.-7C>A (n.-7C>A)
n.340C>A
c.258C>A (p.Asn86Lys)
c.555C>A (p.Asn185Lys)
22g.19962670C>GCA410688653COMTc.144C>G (p.Asn48Lys)
c.-7C>G (n.-7C>G)
n.340C>G
c.258C>G (p.Asn86Lys)
c.555C>G (p.Asn185Lys)
22g.19962670C>TCA513688466COMTc.144C>T (p.Asn48=)
c.-7C>T (n.-7C>T)
n.340C>T
c.258C>T (p.Asn86=)
c.555C>T (p.Asn185=)
22g.19962671C>ACA410688654COMTc.145C>A (p.Leu49Met)
c.-6C>A (n.-6C>A)
n.341C>A
c.259C>A (p.Leu87Met)
c.556C>A (p.Leu186Met)
22g.19962671C=CA2396125232COMTc.145C= (p.Leu49=)
c.-6C= (n.-6C=)
n.341C=
c.259C= (p.Leu87=)
c.556C= (p.Leu186=)
22g.19962671C>GCA410688655COMTc.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
22g.19962671C>TCA513688472COMTc.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
22g.19962672T>ACA410688656COMTc.146T>A (p.Leu49Gln)
c.-5T>A (n.-5T>A)
n.342T>A
c.260T>A (p.Leu87Gln)
c.557T>A (p.Leu186Gln)
22g.19962672T>CCA410688657COMTc.146T>C (p.Leu49Pro)
c.-5T>C (n.-5T>C)
n.342T>C
c.260T>C (p.Leu87Pro)
c.557T>C (p.Leu186Pro)
22g.19962672T>GCA410688658COMTc.146T>G (p.Leu49Arg)
c.-5T>G (n.-5T>G)
n.342T>G
c.260T>G (p.Leu87Arg)
c.557T>G (p.Leu186Arg)
22g.19962673G>ACA513688481COMTc.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
22g.19962673G>CCA513688479COMTc.147G>C (p.Leu49=)
c.-4G>C (n.-4G>C)
n.343G>C
c.261G>C (p.Leu87=)
c.558G>C (p.Leu186=)
22g.19962673G>TCA513688476COMTc.147G>T (p.Leu49=)
c.-4G>T (n.-4G>T)
n.343G>T
c.261G>T (p.Leu87=)
c.558G>T (p.Leu186=)
22g.19962674C>ACA410688659COMTc.148C>A (p.Leu50Ile)
c.-3C>A (n.-3C>A)
n.344C>A
c.262C>A (p.Leu88Ile)
c.559C>A (p.Leu187Ile)
22g.19962674C>GCA410688661COMTc.148C>G (p.Leu50Val)
c.-3C>G (n.-3C>G)
n.344C>G
c.262C>G (p.Leu88Val)
c.559C>G (p.Leu187Val)
22g.19962674C>TCA410688660COMTc.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
22g.19962675T>ACA410688662COMTc.149T>A (p.Leu50His)
c.-2T>A (n.-2T>A)
n.345T>A
c.263T>A (p.Leu88His)
c.560T>A (p.Leu187His)
22g.19962675T>CCA410688663COMTc.149T>C (p.Leu50Pro)
c.-2T>C (n.-2T>C)
n.345T>C
c.263T>C (p.Leu88Pro)
c.560T>C (p.Leu187Pro)
22g.19962675T>GCA410688664COMTc.149T>G (p.Leu50Arg)
c.-2T>G (n.-2T>G)
n.345T>G
c.263T>G (p.Leu88Arg)
c.560T>G (p.Leu187Arg)
22g.19962675T=CA2396125233COMTc.149T= (p.Leu50=)
c.-2T= (n.-2T=)
n.345T=
c.263T= (p.Leu88=)
c.560T= (p.Leu187=)
22g.19962675_19962676insACA920337038COMTc.149_150insA (p.Met51HisfsTer3)
c.-2_-1insA (n.-2_-1insA)
n.345_346insA
c.263_264insA (p.Met89HisfsTer3)
c.560_561insA (p.Met188HisfsTer3)
 dbSNP
22g.19962676C>ACA513688486COMTc.150C>A (p.Leu50=)
c.-1C>A (n.-1C>A)
n.346C>A
c.264C>A (p.Leu88=)
c.561C>A (p.Leu187=)
 dbSNP
22g.19962676C=CA2396125234COMTc.150C= (p.Leu50=)
c.-1C= (n.-1C=)
n.346C=
c.264C= (p.Leu88=)
c.561C= (p.Leu187=)
22g.19962676C>GCA10104472COMTc.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
22g.19962676C>TCA513688484COMTc.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
22g.19962677A>CCA410688667COMTc.151A>C (p.Met51Leu)
c.1A>C (p.Met1Leu)
n.347A>C
c.265A>C (p.Met89Leu)
c.562A>C (p.Met188Leu)
22g.19962677A>GCA410688666COMTc.151A>G (p.Met51Val)
c.1A>G (p.Met1Val)
n.347A>G
c.265A>G (p.Met89Val)
c.562A>G (p.Met188Val)
22g.19962677A>TCA410688665COMTc.151A>T (p.Met51Leu)
c.1A>T (p.Met1Leu)
n.347A>T
c.265A>T (p.Met89Leu)
c.562A>T (p.Met188Leu)
22g.19962678T>ACA410688668COMTc.152T>A (p.Met51Lys)
c.2T>A (p.Met1Lys)
n.348T>A
c.266T>A (p.Met89Lys)
c.563T>A (p.Met188Lys)
22g.19962678T>CCA322120800COMTc.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
22g.19962678T>GCA410688669COMTc.152T>G (p.Met51Arg)
c.2T>G (p.Met1Arg)
n.348T>G
c.266T>G (p.Met89Arg)
c.563T>G (p.Met188Arg)
22g.19962678T=CA2396125235COMTc.152T= (p.Met51=)
c.2T= (p.Met1=)
n.348T=
c.266T= (p.Met89=)
c.563T= (p.Met188=)
22g.19962679G>ACA410688670COMTc.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
22g.19962679G>CCA410688672COMTc.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)
22g.19962679G>TCA410688671COMTc.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
22g.19962679_19962821delCA1024175389COMTc.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
22g.19962680G>ACA410688673COMTc.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)
22g.19962680G>CCA410688674COMTc.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)
22g.19962680G>TCA410688675COMTc.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)
22g.19962681G>ACA410688676COMTc.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
22g.19962681G>CCA410688677COMTc.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)
22g.19962681G=CA2396125236COMTc.155G= (p.Gly52=)
c.5G= (p.Gly2=)
n.3G=
n.351G=
c.269G= (p.Gly90=)
c.566G= (p.Gly189=)
22g.19962681G>TCA410688678COMTc.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)
22g.19962682T>ACA513688497COMTc.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=)
22g.19962682T>CCA10104473COMTc.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
22g.19962682T>GCA513688496COMTc.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=)
22g.19962682T=CA2396125237COMTc.156T= (p.Gly52=)
c.6T= (p.Gly2=)
n.4T=
n.352T=
c.270T= (p.Gly90=)
c.567T= (p.Gly189=)
22g.19962683G>ACA410688681COMTc.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
22g.19962683G>CCA410688679COMTc.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)
22g.19962683G>TCA410688680COMTc.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)
22g.19962684A>CCA410688682COMTc.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)
22g.19962684A>GCA410688683COMTc.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)
22g.19962684A>TCA410688684COMTc.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)
22g.19962685C>ACA410688685COMTc.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)
22g.19962685C>GCA410688686COMTc.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)
22g.19962685C>TCA513687857COMTc.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=)
22g.19962686A=CA2396125238COMTc.160A= (p.Thr54=)
c.10A= (p.Thr4=)
n.8A=
n.356A=
c.274A= (p.Thr92=)
c.571A= (p.Thr191=)
22g.19962686A>CCA410688687COMTc.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)
22g.19962686A>GCA410688689COMTc.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
22g.19962686A>TCA410688688COMTc.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)
22g.19962687C>ACA410688690COMTc.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
22g.19962687C=CA2396125239COMTc.161C= (p.Thr54=)
c.11C= (p.Thr4=)
n.9C=
n.357C=
c.275C= (p.Thr92=)
c.572C= (p.Thr191=)
22g.19962687C>GCA410688691COMTc.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
22g.19962687C>TCA410688692COMTc.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)
22g.19962688C>ACA513687861COMTc.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=)
22g.19962688C=CA2396125240COMTc.162C= (p.Thr54=)
c.12C= (p.Thr4=)
n.10C=
n.358C=
c.276C= (p.Thr92=)
c.573C= (p.Thr191=)
22g.19962688C>GCA513687860COMTc.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=)
22g.19962688C>TCA513687859COMTc.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
22g.19962689A>CCA410688693COMTc.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)
22g.19962689A>GCA410688694COMTc.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)
22g.19962689A>TCA410688695COMTc.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)
22g.19962690A>CCA410688696COMTc.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)
22g.19962690A>GCA410688697COMTc.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)
22g.19962690A>TCA410688698COMTc.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
22g.19962691G>ACA513687865COMTc.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
22g.19962691G>CCA410688699COMTc.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)
22g.19962691G=CA2396125241COMTc.165G= (p.Lys55=)
c.15G= (p.Lys5=)
n.13G=
n.361G=
c.279G= (p.Lys93=)
c.576G= (p.Lys192=)
22g.19962691G>TCA410688700COMTc.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)
22g.19962692G>ACA410688701COMTc.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
22g.19962692G>CCA410688703COMTc.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)
22g.19962692G=CA2396125242COMTc.166G= (p.Glu56=)
c.16G= (p.Glu6=)
n.14G=
n.362G=
c.280G= (p.Glu94=)
c.577G= (p.Glu193=)
22g.19962692G>TCA410688702COMTc.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)
22g.19962693_19962694delCA2577769697COMTc.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)
22g.19962693A>CCA410688704COMTc.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)
22g.19962693A>GCA410688705COMTc.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)
22g.19962693A>TCA410688706COMTc.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)
22g.19962694G>ACA513687869COMTc.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=)
22g.19962694G>CCA410688707COMTc.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)
22g.19962694G>TCA410688708COMTc.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)
22g.19962695C>ACA10104474COMTc.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
22g.19962695C=CA2396125243COMTc.169C= (p.Gln57=)
c.19C= (p.Gln7=)
n.17C=
n.365C=
c.283C= (p.Gln95=)
c.580C= (p.Gln194=)
22g.19962695C>GCA410688709COMTc.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)
22g.19962695C>TCA410688710COMTc.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
22g.19962696A>CCA410688711COMTc.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)
22g.19962696A>GCA410688712COMTc.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
22g.19962696A>TCA410688713COMTc.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)
22g.19962697G>ACA513687881COMTc.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=)
22g.19962697G>CCA410688714COMTc.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)
22g.19962697G>TCA410688715COMTc.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)
22g.19962698C>ACA410688716COMTc.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)
22g.19962698C=CA2396125244COMTc.172C= (p.Arg58=)
c.22C= (p.Arg8=)
n.20C=
n.368C=
c.286C= (p.Arg96=)
c.583C= (p.Arg195=)
22g.19962698C>GCA410688718COMTc.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)
22g.19962698C>TCA410688717COMTc.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
22g.19962699G>ACA10104475COMTc.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
22g.19962699G>CCA410688719COMTc.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)
22g.19962699G=CA2396125245COMTc.173G= (p.Arg58=)
c.23G= (p.Arg8=)
n.21G=
n.369G=
c.287G= (p.Arg96=)
c.584G= (p.Arg195=)
22g.19962699G>TCA410688720COMTc.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)
22g.19962700C>ACA513687892COMTc.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=)
22g.19962700C>GCA513687891COMTc.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=)
22g.19962700C>TCA513687889COMTc.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=)
22g.19962701A=CA2396125246COMTc.175A= (p.Ile59=)
c.25A= (p.Ile9=)
n.23A=
n.371A=
c.289A= (p.Ile97=)
c.586A= (p.Ile196=)
22g.19962701A>CCA410688721COMTc.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)
22g.19962701A>GCA10104476COMTc.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
22g.19962701A>TCA410688722COMTc.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)
22g.19962702T>ACA410688723COMTc.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)
22g.19962702T>CCA410688724COMTc.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
22g.19962702T>GCA410688725COMTc.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
22g.19962702T=CA2396125247COMTc.176T= (p.Ile59=)
c.26T= (p.Ile9=)
n.24T=
n.372T=
c.290T= (p.Ile97=)
c.587T= (p.Ile196=)
22g.19962703C>ACA513687917COMTc.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=)
22g.19962703C=CA2396125248COMTc.177C= (p.Ile59=)
c.27C= (p.Ile9=)
n.25C=
n.373C=
c.291C= (p.Ile97=)
c.588C= (p.Ile196=)
22g.19962703C>GCA410688726COMTc.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
22g.19962703C>TCA513687913COMTc.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
22g.19962704C>ACA410688728COMTc.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)
22g.19962704C=CA2396125249COMTc.178C= (p.Leu60=)
c.28C= (p.Leu10=)
n.26C=
n.374C=
c.292C= (p.Leu98=)
c.589C= (p.Leu197=)
22g.19962704C>GCA410688727COMTc.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)
22g.19962704C>TCA10104477COMTc.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
22g.19962705T>ACA410688731COMTc.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)
22g.19962705T>CCA410688729COMTc.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)
22g.19962705T>GCA410688730COMTc.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)
22g.19962706G>ACA513687929COMTc.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
22g.19962706G>CCA513687927COMTc.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=)
22g.19962706G=CA2396125250COMTc.180G= (p.Leu60=)
c.30G= (p.Leu10=)
n.28G=
n.376G=
c.294G= (p.Leu98=)
c.591G= (p.Leu197=)
22g.19962706G>TCA513687926COMTc.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=)
22g.19962707A>CCA410688732COMTc.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)
22g.19962707A>GCA410688733COMTc.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)
22g.19962707A>TCA410688734COMTc.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)
22g.19962708A>CCA410688735COMTc.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)
22g.19962708A>GCA410688736COMTc.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
22g.19962708A>TCA410688737COMTc.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)
22g.19962709C>ACA410688738COMTc.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
22g.19962709C>GCA410688739COMTc.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)
22g.19962709C>TCA513687940COMTc.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
22g.19962710C>ACA410688740COMTc.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)
22g.19962710C=CA2396125251COMTc.184C= (p.His62=)
c.34C= (p.His12=)
n.32C=
n.380C=
c.298C= (p.His100=)
c.595C= (p.His199=)
22g.19962710C>GCA410688741COMTc.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)
22g.19962710C>TCA410688742COMTc.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
22g.19962711_19962712delCA2655332886COMTc.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
22g.19962711A>CCA410688745COMTc.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)
22g.19962711A>GCA410688744COMTc.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)
22g.19962711A>TCA410688743COMTc.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)
22g.19962712C>ACA410688746COMTc.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
22g.19962712C=CA1139772227COMTc.186C= (p.His62=)
c.36C= (p.His12=)
n.34C=
n.382C=
c.300C= (p.His100=)
c.597C= (p.His199=)
22g.19962712C>GCA410688747COMTc.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)
22g.19962712C>TCA10104478COMTc.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
22g.19962713G>ACA410688748COMTc.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
22g.19962713G>CCA410688749COMTc.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)
22g.19962713G=CA2396125252COMTc.187G= (p.Val63=)
c.37G= (p.Val13=)
n.35G=
n.383G=
c.301G= (p.Val101=)
c.598G= (p.Val200=)
22g.19962713G>TCA410688750COMTc.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)
22g.19962714T>ACA410688751COMTc.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
22g.19962714T>CCA10104479COMTc.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
22g.19962714T>GCA410688752COMTc.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)
22g.19962714T=CA2396125253COMTc.188T= (p.Val63=)
c.38T= (p.Val13=)
n.36T=
n.384T=
c.302T= (p.Val101=)
c.599T= (p.Val200=)
22g.19962715G>ACA513687964COMTc.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=)
22g.19962715G>CCA513687961COMTc.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=)
22g.19962715G>TCA513687960COMTc.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=)
22g.19962716C>ACA410688753COMTc.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)
22g.19962716C>GCA410688754COMTc.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)
22g.19962716C>TCA513687966COMTc.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=)
22g.19962717T>ACA410688755COMTc.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)
22g.19962717T>CCA410688756COMTc.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)
22g.19962717T>GCA410688757COMTc.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)
22g.19962718G>ACA513687978COMTc.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=)
22g.19962718G>CCA513687973COMTc.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=)
22g.19962718G>TCA513687972COMTc.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=)
22g.19962719C>ACA410688759COMTc.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)
22g.19962719C>GCA410688760COMTc.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)
22g.19962719C>TCA410688758COMTc.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)
22g.19962720A=CA2396125254COMTc.194A= (p.Gln65=)
c.44A= (p.Gln15=)
n.42A=
n.390A=
c.308A= (p.Gln103=)
c.605A= (p.Gln202=)
22g.19962720A>CCA410688761COMTc.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)
22g.19962720A>GCA322120809COMTc.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
22g.19962720A>TCA410688762COMTc.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)
22g.19962721delCA2655332900COMTc.195del (p.Gln65HisfsTer26)
c.45del (p.Gln15HisfsTer26)
n.43del
n.391del
c.309del (p.Gln103HisfsTer26)
c.606del (p.Gln202HisfsTer26)
 gnomAD v4
22g.19962721G>ACA513688006COMTc.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=)
22g.19962721G>CCA410688763COMTc.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)
22g.19962721G>TCA410688764COMTc.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)
22g.19962722C>ACA410688765COMTc.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)
22g.19962722C=CA2396125255COMTc.196C= (p.His66=)
c.46C= (p.His16=)
n.44C=
n.392C=
c.310C= (p.His104=)
c.607C= (p.His203=)
22g.19962722C>GCA410688766COMTc.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)
22g.19962722C>TCA410688767COMTc.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
22g.19962723A=CA2396125256COMTc.197A= (p.His66=)
c.47A= (p.His16=)
n.45A=
n.393A=
c.311A= (p.His104=)
c.608A= (p.His203=)
22g.19962723A>CCA410688768COMTc.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)
22g.19962723A>GCA410688769COMTc.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
22g.19962723A>TCA410688770COMTc.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
22g.19962724T>ACA410688771COMTc.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
22g.19962724T>CCA513688011COMTc.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=)
22g.19962724T>GCA410688772COMTc.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)
22g.19962725G>ACA410688775COMTc.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
22g.19962725G>CCA410688773COMTc.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)
22g.19962725G=CA2396125257COMTc.199G= (p.Ala67=)
c.49G= (p.Ala17=)
n.47G=
n.395G=
c.313G= (p.Ala105=)
c.610G= (p.Ala204=)
22g.19962725G>TCA410688774COMTc.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)
22g.19962726C>ACA410688776COMTc.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)
22g.19962726C=CA2396125258COMTc.200C= (p.Ala67=)
c.50C= (p.Ala17=)
n.48C=
n.396C=
c.314C= (p.Ala105=)
c.611C= (p.Ala204=)
22g.19962726C>GCA410688777COMTc.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)
22g.19962726C>TCA10104480COMTc.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
22g.19962727G>ACA10104481COMTc.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
22g.19962727G>CCA513688030COMTc.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=)
22g.19962727G=CA2396125259COMTc.201G= (p.Ala67=)
c.51G= (p.Ala17=)
n.49G=
n.397G=
c.315G= (p.Ala105=)
c.612G= (p.Ala204=)
22g.19962727G>TCA513688028COMTc.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=)
22g.19962727_19962738delCA2655332910COMTc.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
22g.19962728G>ACA410688778COMTc.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
22g.19962728G>CCA410688779COMTc.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)
22g.19962728G=CA2396125260COMTc.202G= (p.Glu68=)
c.52G= (p.Glu18=)
n.50G=
n.398G=
c.316G= (p.Glu106=)
c.613G= (p.Glu205=)
22g.19962728G>TCA410688780COMTc.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)
22g.19962729A>CCA410688781COMTc.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)
22g.19962729A>GCA410688782COMTc.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)
22g.19962729A>TCA410688783COMTc.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)
22g.19962730G>ACA322120812COMTc.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
22g.19962730G>CCA410688784COMTc.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)
22g.19962730G=CA2396125261COMTc.204G= (p.Glu68=)
c.54G= (p.Glu18=)
n.52G=
n.400G=
c.318G= (p.Glu106=)
c.615G= (p.Glu205=)
22g.19962730G>TCA410688785COMTc.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)
22g.19962731C>ACA410688788COMTc.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)
22g.19962731C>GCA410688787COMTc.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)
22g.19962731C>TCA410688786COMTc.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)
22g.19962732C>ACA410688789COMTc.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)
22g.19962732C>GCA410688791COMTc.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)
22g.19962732C>TCA410688790COMTc.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
22g.19962733C>ACA513688058COMTc.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
22g.19962733C=CA2396125262COMTc.207C= (p.Pro69=)
c.57C= (p.Pro19=)
n.55C=
n.403C=
c.321C= (p.Pro107=)
c.618C= (p.Pro206=)
22g.19962733C>GCA10104483COMTc.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
22g.19962733C>TCA10104482COMTc.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
22g.19962733_19962734delinsCGCA2396125263COMTc.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=)
22g.19962734G>ACA10104485COMTc.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
22g.19962734G>CCA410688792COMTc.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)
22g.19962734G=CA2396125265COMTc.208G= (p.Gly70=)
c.58G= (p.Gly20=)
n.56G=
n.404G=
c.322G= (p.Gly108=)
c.619G= (p.Gly207=)
22g.19962734G>TCA10104484COMTc.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
22g.19962736dupCA2655332933COMTc.210dup (p.Asn71GlufsTer10)
c.60dup (p.Asn21GlufsTer10)
n.58dup
n.406dup
c.324dup (p.Asn109GlufsTer10)
c.621dup (p.Asn208GlufsTer10)
 gnomAD v4
22g.19962736delCA2396125264COMTc.210del (p.Asn71ThrfsTer20)
c.60del (p.Asn21ThrfsTer20)
n.58del
n.406del
c.324del (p.Asn109ThrfsTer20)
c.621del (p.Asn208ThrfsTer20)
 dbSNP
22g.19962734_19962737delCA2655332934COMTc.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
22g.19962735G>ACA410688793COMTc.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
22g.19962735G>CCA410688794COMTc.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)
22g.19962735G>TCA410688795COMTc.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)
22g.19962736G>ACA513688070COMTc.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
22g.19962736G>CCA513688068COMTc.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
22g.19962736G=CA2396125266COMTc.210G= (p.Gly70=)
c.60G= (p.Gly20=)
n.58G=
n.406G=
c.324G= (p.Gly108=)
c.621G= (p.Gly207=)
22g.19962736G>TCA513688065COMTc.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
22g.19962737A>CCA410688796COMTc.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)
22g.19962737A>GCA410688797COMTc.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)
22g.19962737A>TCA410688798COMTc.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)
22g.19962738A>CCA410688801COMTc.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)
22g.19962738A>GCA410688800COMTc.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)
22g.19962738A>TCA410688799COMTc.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)
22g.19962739delCA2655332945COMTc.213del (p.Asn71LysfsTer20)
c.63del (p.Asn21LysfsTer20)
n.61del
n.409del
c.327del (p.Asn109LysfsTer20)
c.624del (p.Asn208LysfsTer20)
 gnomAD v4
22g.19962739C>ACA410688802COMTc.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)
22g.19962739C=CA2396125267COMTc.213C= (p.Asn71=)
c.63C= (p.Asn21=)
n.61C=
n.409C=
c.327C= (p.Asn109=)
c.624C= (p.Asn208=)
22g.19962739C>GCA410688803COMTc.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)
22g.19962739C>TCA10104486COMTc.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
22g.19962739_19962740insACA2655332952COMTc.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
22g.19962740G>ACA10104487COMTc.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
22g.19962740G>CCA410688806COMTc.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)
22g.19962740G=CA1139772245COMTc.214G= (p.Ala72=)
c.64G= (p.Ala22=)
n.62G=
n.410G=
c.328G= (p.Ala110=)
c.625G= (p.Ala209=)
22g.19962740G>TCA127289COMTc.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
22g.19962741C>ACA410688810COMTc.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)
22g.19962741C>GCA410688811COMTc.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)
22g.19962741C>TCA410688813COMTc.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)
22g.19962741_19962744delCA2655332960COMTc.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
22g.19962742A>CCA513688101COMTc.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=)
22g.19962742A>GCA513688099COMTc.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=)
22g.19962742A>TCA513688097COMTc.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=)
22g.19962743C>ACA410688814COMTc.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)
22g.19962743C=CA2396125268COMTc.217C= (p.Gln73=)
c.67C= (p.Gln23=)
n.65C=
n.413C=
c.331C= (p.Gln111=)
c.628C= (p.Gln210=)
22g.19962743C>GCA410688815COMTc.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)
22g.19962743C>TCA410688817COMTc.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
22g.19962744A=CA2396125269COMTc.218A= (p.Gln73=)
c.68A= (p.Gln23=)
n.66A=
n.414A=
c.332A= (p.Gln111=)
c.629A= (p.Gln210=)
22g.19962744A>CCA410688823COMTc.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)
22g.19962744A>GCA410688821COMTc.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
22g.19962744A>TCA410688819COMTc.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)
22g.19962745G>ACA10104488COMTc.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
22g.19962745G>CCA410688825COMTc.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
22g.19962745G=CA2396125270COMTc.219G= (p.Gln73=)
c.69G= (p.Gln23=)
n.67G=
n.415G=
c.333G= (p.Gln111=)
c.630G= (p.Gln210=)
22g.19962745G>TCA410688827COMTc.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)
22g.19962746A>CCA410688830COMTc.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)
22g.19962746A>GCA410688832COMTc.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)
22g.19962746A>TCA410688834COMTc.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)
22g.19962747G>ACA410688836COMTc.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)
22g.19962747G>CCA410688838COMTc.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)
22g.19962747G>TCA410688840COMTc.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
22g.19962748C>ACA410688842COMTc.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
22g.19962748C=CA2396125271COMTc.222C= (p.Ser74=)
c.72C= (p.Ser24=)
n.70C=
n.418C=
c.336C= (p.Ser112=)
c.633C= (p.Ser211=)
22g.19962748C>GCA410688844COMTc.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)
22g.19962748C>TCA513688117COMTc.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
22g.19962749G>ACA322120820COMTc.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
22g.19962749G>CCA410688847COMTc.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
22g.19962749G=CA2396125272COMTc.223G= (p.Val75=)
c.73G= (p.Val25=)
n.71G=
n.419G=
c.337G= (p.Val113=)
c.634G= (p.Val212=)
22g.19962749G>TCA410688848COMTc.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)
22g.19962750T>ACA410688850COMTc.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)
22g.19962750T>CCA10104489COMTc.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
22g.19962750T>GCA410688849COMTc.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)
22g.19962750T=CA2396125273COMTc.224T= (p.Val75=)
c.74T= (p.Val25=)
n.72T=
n.420T=
c.338T= (p.Val113=)
c.635T= (p.Val212=)
22g.19962751G>ACA513688129COMTc.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=)
22g.19962751G>CCA513688128COMTc.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=)
22g.19962751G>TCA513688127COMTc.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=)
22g.19962752C>ACA410688852COMTc.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)
22g.19962752C>GCA410688853COMTc.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)
22g.19962752C>TCA513688133COMTc.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=)
22g.19962753T>ACA10104490COMTc.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
22g.19962753T>CCA410688857COMTc.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)
22g.19962753T>GCA410688860COMTc.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)
22g.19962753T=CA2396125274COMTc.227T= (p.Leu76=)
c.77T= (p.Leu26=)
n.75T=
n.423T=
c.341T= (p.Leu114=)
c.638T= (p.Leu213=)
22g.19962754G>ACA513688140COMTc.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
22g.19962754G>CCA513688139COMTc.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=)
22g.19962754G=CA2396125275COMTc.228G= (p.Leu76=)
c.78G= (p.Leu26=)
n.76G=
n.424G=
c.342G= (p.Leu114=)
c.639G= (p.Leu213=)
22g.19962754G>TCA513688138COMTc.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=)
22g.19962755G>ACA410688862COMTc.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
22g.19962755G>CCA410688864COMTc.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)
22g.19962755G=CA2396125276COMTc.229G= (p.Glu77=)
c.79G= (p.Glu27=)
n.77G=
n.425G=
c.343G= (p.Glu115=)
c.640G= (p.Glu214=)
22g.19962755G>TCA410688866COMTc.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)
22g.19962756A=CA2396125277COMTc.230A= (p.Glu77=)
c.80A= (p.Glu27=)
n.78A=
n.426A=
c.344A= (p.Glu115=)
c.641A= (p.Glu214=)
22g.19962756A>CCA410688869COMTc.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)
22g.19962756A>GCA410688870COMTc.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
22g.19962756A>TCA410688872COMTc.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)
22g.19962757G>ACA513688152COMTc.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
22g.19962757G>CCA410688873COMTc.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)
22g.19962757G=CA2396125278COMTc.231G= (p.Glu77=)
c.81G= (p.Glu27=)
n.79G=
n.427G=
c.345G= (p.Glu115=)
c.642G= (p.Glu214=)
22g.19962757G>TCA410688875COMTc.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)
22g.19962758G>ACA410688879COMTc.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
22g.19962758G>CCA410688880COMTc.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)
22g.19962758G=CA2396125279COMTc.232G= (p.Ala78=)
c.82G= (p.Ala28=)
n.80G=
n.428G=
c.346G= (p.Ala116=)
c.643G= (p.Ala215=)
22g.19962758G>TCA410688877COMTc.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)
22g.19962759C>ACA410688882COMTc.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)
22g.19962759C>GCA410688886COMTc.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)
22g.19962759C>TCA410688884COMTc.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
22g.19962760C>ACA513688164COMTc.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=)
22g.19962760C>GCA513688163COMTc.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=)
22g.19962760C>TCA513688162COMTc.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=)
22g.19962761A=CA2396125280COMTc.235A= (p.Ile79=)
c.85A= (p.Ile29=)
n.83A=
n.431A=
c.349A= (p.Ile117=)
c.646A= (p.Ile216=)
22g.19962761A>CCA410688888COMTc.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)
22g.19962761A>GCA10104491COMTc.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
22g.19962761A>TCA410688890COMTc.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)

Number of alleles fetched