Chr Mutation (hg38) CAid Gene Transcript Linkouts
22g.19964280_19964281delinsACA322121254COMTc.596_597delinsA (p.Pro199GlnfsTer23)
c.446_447delinsA (p.Pro149GlnfsTer23)
c.710_711delinsA (p.Pro237GlnfsTer30)
c.710_711delinsA (p.Pro237GlnfsTer23)
c.596_597delinsA (p.Pro199GlnfsTer30)
c.1007_1008delinsA (p.Pro336GlnfsTer23)
c.*54_*55delinsA (p.=)
c.596_597delinsA (p.Pro199GlnfsTer8)
n.174_175delinsA
n.334_335delinsA
dbSNP
22g.19964280_19964281delinsTCA920337049COMTc.596_597delinsT (p.Pro199LeufsTer23)
c.446_447delinsT (p.Pro149LeufsTer23)
c.710_711delinsT (p.Pro237LeufsTer30)
c.710_711delinsT (p.Pro237LeufsTer23)
c.596_597delinsT (p.Pro199LeufsTer30)
c.1007_1008delinsT (p.Pro336LeufsTer23)
c.*54_*55delinsT (p.=)
c.596_597delinsT (p.Pro199LeufsTer8)
n.174_175delinsT
n.334_335delinsT
dbSNP
22g.19964281G>ACA10104650COMTc.597G>A (p.Pro199=)
c.447G>A (p.Pro149=)
c.711G>A (p.Pro237=)
c.1008G>A (p.Pro336=)
c.*55G>A (p.=)
n.175G>A
n.335G>A
ClinVar dbSNP ExAC gnomAD
22g.19964281G>CCA513688531COMTc.597G>C (p.Pro199=)
c.447G>C (p.Pro149=)
c.711G>C (p.Pro237=)
c.1008G>C (p.Pro336=)
c.*55G>C (p.=)
n.175G>C
n.335G>C
22g.19964281G>TCA513688530COMTc.597G>T (p.Pro199=)
c.447G>T (p.Pro149=)
c.711G>T (p.Pro237=)
c.1008G>T (p.Pro336=)
c.*55G>T (p.=)
n.175G>T
n.335G>T
22g.19964281delCA920337050COMTc.597del (p.Asp200ThrfsTer22)
c.447del (p.Asp150ThrfsTer22)
c.711del (p.Asp238ThrfsTer29)
c.711del (p.Asp238ThrfsTer22)
c.597del (p.Asp200ThrfsTer29)
c.1008del (p.Asp337ThrfsTer22)
c.*55del (p.=)
c.597del (p.Asp200ThrfsTer7)
n.175del
n.335del
dbSNP
22g.19964282G>ACA410689883COMTc.598G>A (p.Asp200Asn)
c.448G>A (p.Asp150Asn)
c.712G>A (p.Asp238Asn)
c.1009G>A (p.Asp337Asn)
c.*56G>A (p.=)
n.176G>A
n.336G>A
22g.19964282G>CCA410689881COMTc.598G>C (p.Asp200His)
c.448G>C (p.Asp150His)
c.712G>C (p.Asp238His)
c.1009G>C (p.Asp337His)
c.*56G>C (p.=)
n.176G>C
n.336G>C
gnomAD
22g.19964282G>TCA410689882COMTc.598G>T (p.Asp200Tyr)
c.448G>T (p.Asp150Tyr)
c.712G>T (p.Asp238Tyr)
c.1009G>T (p.Asp337Tyr)
c.*56G>T (p.=)
n.176G>T
n.336G>T
22g.19964283A>CCA410689884COMTc.599A>C (p.Asp200Ala)
c.449A>C (p.Asp150Ala)
c.713A>C (p.Asp238Ala)
c.1010A>C (p.Asp337Ala)
c.*57A>C (p.=)
n.177A>C
n.337A>C
22g.19964283A>GCA410689885COMTc.599A>G (p.Asp200Gly)
c.449A>G (p.Asp150Gly)
c.713A>G (p.Asp238Gly)
c.1010A>G (p.Asp337Gly)
c.*57A>G (p.=)
n.177A>G
n.337A>G
22g.19964283A>TCA410689886COMTc.599A>T (p.Asp200Val)
c.449A>T (p.Asp150Val)
c.713A>T (p.Asp238Val)
c.1010A>T (p.Asp337Val)
c.*57A>T (p.=)
n.177A>T
n.337A>T
22g.19964284C>ACA410689887COMTc.600C>A (p.Asp200Glu)
c.450C>A (p.Asp150Glu)
c.714C>A (p.Asp238Glu)
c.1011C>A (p.Asp337Glu)
c.*58C>A (p.=)
n.178C>A
n.338C>A
22g.19964284C>GCA410689888COMTc.600C>G (p.Asp200Glu)
c.450C>G (p.Asp150Glu)
c.714C>G (p.Asp238Glu)
c.1011C>G (p.Asp337Glu)
c.*58C>G (p.=)
n.178C>G
n.338C>G
22g.19964284C>TCA513688532COMTc.600C>T (p.Asp200=)
c.450C>T (p.Asp150=)
c.714C>T (p.Asp238=)
c.1011C>T (p.Asp337=)
c.*58C>T (p.=)
n.178C>T
n.338C>T
22g.19964285A>CCA410689889COMTc.601A>C (p.Thr201Pro)
c.451A>C (p.Thr151Pro)
c.715A>C (p.Thr239Pro)
c.1012A>C (p.Thr338Pro)
c.*59A>C (p.=)
n.179A>C
n.339A>C
22g.19964285A>GCA410689891COMTc.601A>G (p.Thr201Ala)
c.451A>G (p.Thr151Ala)
c.715A>G (p.Thr239Ala)
c.1012A>G (p.Thr338Ala)
c.*59A>G (p.=)
n.179A>G
n.339A>G
22g.19964285A>TCA410689890COMTc.601A>T (p.Thr201Ser)
c.451A>T (p.Thr151Ser)
c.715A>T (p.Thr239Ser)
c.1012A>T (p.Thr338Ser)
c.*59A>T (p.=)
n.179A>T
n.339A>T
22g.19964286C>ACA410689892COMTc.602C>A (p.Thr201Lys)
c.452C>A (p.Thr151Lys)
c.716C>A (p.Thr239Lys)
c.1013C>A (p.Thr338Lys)
c.*60C>A (p.=)
n.180C>A
n.340C>A
22g.19964286C>GCA410689893COMTc.602C>G (p.Thr201Arg)
c.452C>G (p.Thr151Arg)
c.716C>G (p.Thr239Arg)
c.1013C>G (p.Thr338Arg)
c.*60C>G (p.=)
n.180C>G
n.340C>G
22g.19964286C>TCA10104651COMTc.602C>T (p.Thr201Met)
c.452C>T (p.Thr151Met)
c.716C>T (p.Thr239Met)
c.1013C>T (p.Thr338Met)
c.*60C>T (p.=)
n.180C>T
n.340C>T
dbSNP ExAC gnomAD
22g.19964287G>ACA10104653COMTc.603G>A (p.Thr201=)
c.453G>A (p.Thr151=)
c.717G>A (p.Thr239=)
c.1014G>A (p.Thr338=)
c.*61G>A (p.=)
n.181G>A
n.341G>A
dbSNP ExAC gnomAD
22g.19964287G>CCA513688533COMTc.603G>C (p.Thr201=)
c.453G>C (p.Thr151=)
c.717G>C (p.Thr239=)
c.1014G>C (p.Thr338=)
c.*61G>C (p.=)
n.181G>C
n.341G>C
22g.19964287G>TCA10104652COMTc.603G>T (p.Thr201=)
c.453G>T (p.Thr151=)
c.717G>T (p.Thr239=)
c.1014G>T (p.Thr338=)
c.*61G>T (p.=)
n.181G>T
n.341G>T
dbSNP ExAC gnomAD
22g.19964288C>ACA10104654COMTc.604C>A (p.Leu202Ile)
c.454C>A (p.Leu152Ile)
c.718C>A (p.Leu240Ile)
c.1015C>A (p.Leu339Ile)
c.*62C>A (p.=)
n.182C>A
n.342C>A
dbSNP ExAC gnomAD
22g.19964288C>GCA410689894COMTc.604C>G (p.Leu202Val)
c.454C>G (p.Leu152Val)
c.718C>G (p.Leu240Val)
c.1015C>G (p.Leu339Val)
c.*62C>G (p.=)
n.182C>G
n.342C>G
22g.19964288C>TCA410689895COMTc.604C>T (p.Leu202Phe)
c.454C>T (p.Leu152Phe)
c.718C>T (p.Leu240Phe)
c.1015C>T (p.Leu339Phe)
c.*62C>T (p.=)
n.182C>T
n.342C>T
22g.19964289T>ACA10104655COMTc.605T>A (p.Leu202His)
c.455T>A (p.Leu152His)
c.719T>A (p.Leu240His)
c.1016T>A (p.Leu339His)
c.*63T>A (p.=)
n.183T>A
n.343T>A
dbSNP ExAC gnomAD
22g.19964289T>CCA10104656COMTc.605T>C (p.Leu202Pro)
c.455T>C (p.Leu152Pro)
c.719T>C (p.Leu240Pro)
c.1016T>C (p.Leu339Pro)
c.*63T>C (p.=)
n.183T>C
n.343T>C
dbSNP ExAC gnomAD
22g.19964289T>GCA410689896COMTc.605T>G (p.Leu202Arg)
c.455T>G (p.Leu152Arg)
c.719T>G (p.Leu240Arg)
c.1016T>G (p.Leu339Arg)
c.*63T>G (p.=)
n.183T>G
n.343T>G
22g.19964290T>ACA513688535COMTc.606T>A (p.Leu202=)
c.456T>A (p.Leu152=)
c.720T>A (p.Leu240=)
c.1017T>A (p.Leu339=)
c.*64T>A (p.=)
n.184T>A
n.344T>A
22g.19964290T>CCA513688534COMTc.606T>C (p.Leu202=)
c.456T>C (p.Leu152=)
c.720T>C (p.Leu240=)
c.1017T>C (p.Leu339=)
c.*64T>C (p.=)
n.184T>C
n.344T>C
22g.19964290T>GCA513688536COMTc.606T>G (p.Leu202=)
c.456T>G (p.Leu152=)
c.720T>G (p.Leu240=)
c.1017T>G (p.Leu339=)
c.*64T>G (p.=)
n.184T>G
n.344T>G
22g.19964291C>ACA410689899COMTc.607C>A (p.Leu203Ile)
c.457C>A (p.Leu153Ile)
c.721C>A (p.Leu241Ile)
c.1018C>A (p.Leu340Ile)
c.*65C>A (p.=)
n.185C>A
n.345C>A
22g.19964291C>GCA410689898COMTc.607C>G (p.Leu203Val)
c.457C>G (p.Leu153Val)
c.721C>G (p.Leu241Val)
c.1018C>G (p.Leu340Val)
c.*65C>G (p.=)
n.185C>G
n.345C>G
22g.19964291C>TCA410689897COMTc.607C>T (p.Leu203Phe)
c.457C>T (p.Leu153Phe)
c.721C>T (p.Leu241Phe)
c.1018C>T (p.Leu340Phe)
c.*65C>T (p.=)
n.185C>T
n.345C>T
22g.19964292T>ACA410689900COMTc.608T>A (p.Leu203His)
c.458T>A (p.Leu153His)
c.722T>A (p.Leu241His)
c.1019T>A (p.Leu340His)
c.*66T>A (p.=)
n.186T>A
n.346T>A
22g.19964292T>CCA410689901COMTc.608T>C (p.Leu203Pro)
c.458T>C (p.Leu153Pro)
c.722T>C (p.Leu241Pro)
c.1019T>C (p.Leu340Pro)
c.*66T>C (p.=)
n.186T>C
n.346T>C
22g.19964292T>GCA410689902COMTc.608T>G (p.Leu203Arg)
c.458T>G (p.Leu153Arg)
c.722T>G (p.Leu241Arg)
c.1019T>G (p.Leu340Arg)
c.*66T>G (p.=)
n.186T>G
n.346T>G
22g.19964293C>ACA513688538COMTc.609C>A (p.Leu203=)
c.459C>A (p.Leu153=)
c.723C>A (p.Leu241=)
c.1020C>A (p.Leu340=)
c.*67C>A (p.=)
n.187C>A
n.347C>A
22g.19964293C>GCA513688537COMTc.609C>G (p.Leu203=)
c.459C>G (p.Leu153=)
c.723C>G (p.Leu241=)
c.1020C>G (p.Leu340=)
c.*67C>G (p.=)
n.187C>G
n.347C>G
22g.19964293C>TCA10104657COMTc.609C>T (p.Leu203=)
c.459C>T (p.Leu153=)
c.723C>T (p.Leu241=)
c.1020C>T (p.Leu340=)
c.*67C>T (p.=)
n.187C>T
n.347C>T
dbSNP ExAC gnomAD
22g.19964294T>ACA410689903COMTc.610T>A (p.Leu204Met)
c.460T>A (p.Leu154Met)
c.724T>A (p.Leu242Met)
c.1021T>A (p.Leu341Met)
c.*68T>A (p.=)
n.188T>A
n.348T>A
22g.19964294T>CCA513688539COMTc.610T>C (p.Leu204=)
c.460T>C (p.Leu154=)
c.724T>C (p.Leu242=)
c.1021T>C (p.Leu341=)
c.*68T>C (p.=)
n.188T>C
n.348T>C
22g.19964294T>GCA410689904COMTc.610T>G (p.Leu204Val)
c.460T>G (p.Leu154Val)
c.724T>G (p.Leu242Val)
c.1021T>G (p.Leu341Val)
c.*68T>G (p.=)
n.188T>G
n.348T>G
22g.19964295T>ACA410689907COMTc.611T>A (p.Leu204Ter)
c.461T>A (p.Leu154Ter)
c.725T>A (p.Leu242Ter)
c.1022T>A (p.Leu341Ter)
c.*69T>A (p.=)
n.189T>A
n.349T>A
22g.19964295T>CCA410689905COMTc.611T>C (p.Leu204Ser)
c.461T>C (p.Leu154Ser)
c.725T>C (p.Leu242Ser)
c.1022T>C (p.Leu341Ser)
c.*69T>C (p.=)
n.189T>C
n.349T>C
22g.19964295T>GCA410689906COMTc.611T>G (p.Leu204Trp)
c.461T>G (p.Leu154Trp)
c.725T>G (p.Leu242Trp)
c.1022T>G (p.Leu341Trp)
c.*69T>G (p.=)
n.189T>G
n.349T>G
gnomAD
22g.19964296G>ACA513688540COMTc.612G>A (p.Leu204=)
c.462G>A (p.Leu154=)
c.726G>A (p.Leu242=)
c.1023G>A (p.Leu341=)
c.*70G>A (p.=)
n.190G>A
n.350G>A
22g.19964296G>CCA10104658COMTc.612G>C (p.Leu204Phe)
c.462G>C (p.Leu154Phe)
c.726G>C (p.Leu242Phe)
c.1023G>C (p.Leu341Phe)
c.*70G>C (p.=)
n.190G>C
n.350G>C
dbSNP ExAC gnomAD

Number of alleles fetched