Chr Mutation (hg38) CAid Gene Transcript Linkouts
10g.122506789C>ACA471666866HTRA1c.876C>A (p.Val292=)
c.558C>A (p.Val186=)
c.99C>A (p.Val33=)
10g.122506789C>GCA471666867HTRA1c.876C>G (p.Val292=)
c.558C>G (p.Val186=)
c.99C>G (p.Val33=)
10g.122506789C>TCA471666869HTRA1c.876C>T (p.Val292=)
c.558C>T (p.Val186=)
c.99C>T (p.Val33=)
10g.122506790A>CCA378585621HTRA1c.877A>C (p.Thr293Pro)
c.559A>C (p.Thr187Pro)
c.100A>C (p.Thr34Pro)
10g.122506790A>GCA378585624HTRA1c.877A>G (p.Thr293Ala)
c.559A>G (p.Thr187Ala)
c.100A>G (p.Thr34Ala)
gnomAD v4
10g.122506790A>TCA378585625HTRA1c.877A>T (p.Thr293Ser)
c.559A>T (p.Thr187Ser)
c.100A>T (p.Thr34Ser)
10g.122506791C>ACA378585628HTRA1c.878C>A (p.Thr293Asn)
c.560C>A (p.Thr187Asn)
c.101C>A (p.Thr34Asn)
10g.122506791C>GCA378585630HTRA1c.878C>G (p.Thr293Ser)
c.560C>G (p.Thr187Ser)
c.101C>G (p.Thr34Ser)
10g.122506791C>TCA378585632HTRA1c.878C>T (p.Thr293Ile)
c.560C>T (p.Thr187Ile)
c.101C>T (p.Thr34Ile)
10g.122506792C>ACA471666877HTRA1c.879C>A (p.Thr293=)
c.561C>A (p.Thr187=)
c.102C>A (p.Thr34=)
ClinVar dbSNP gnomAD v3 gnomAD v4
10g.122506792C=CA1941477229HTRA1c.879C= (p.Thr293=)
c.561C= (p.Thr187=)
c.102C= (p.Thr34=)
10g.122506792C>GCA471666878HTRA1c.879C>G (p.Thr293=)
c.561C>G (p.Thr187=)
c.102C>G (p.Thr34=)
10g.122506792C>TCA5725957HTRA1c.879C>T (p.Thr293=)
c.561C>T (p.Thr187=)
c.102C>T (p.Thr34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506793A=CA1941477230HTRA1c.880A= (p.Thr294=)
c.562A= (p.Thr188=)
c.103A= (p.Thr35=)
10g.122506793A>CCA378585635HTRA1c.880A>C (p.Thr294Pro)
c.562A>C (p.Thr188Pro)
c.103A>C (p.Thr35Pro)
10g.122506793A>GCA378585637HTRA1c.880A>G (p.Thr294Ala)
c.562A>G (p.Thr188Ala)
c.103A>G (p.Thr35Ala)
dbSNP gnomAD v4
10g.122506793A>TCA378585639HTRA1c.880A>T (p.Thr294Ser)
c.562A>T (p.Thr188Ser)
c.103A>T (p.Thr35Ser)
10g.122506794C>ACA378585645HTRA1c.881C>A (p.Thr294Asn)
c.563C>A (p.Thr188Asn)
c.104C>A (p.Thr35Asn)
10g.122506794C=CA1941477231HTRA1c.881C= (p.Thr294=)
c.563C= (p.Thr188=)
c.104C= (p.Thr35=)
10g.122506794C>GCA378585641HTRA1c.881C>G (p.Thr294Ser)
c.563C>G (p.Thr188Ser)
c.104C>G (p.Thr35Ser)
10g.122506794C>TCA378585643HTRA1c.881C>T (p.Thr294Ile)
c.563C>T (p.Thr188Ile)
c.104C>T (p.Thr35Ile)
dbSNP gnomAD v2 gnomAD v4
10g.122506795C>ACA471666887HTRA1c.882C>A (p.Thr294=)
c.564C>A (p.Thr188=)
c.105C>A (p.Thr35=)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506795C=CA1941477232HTRA1c.882C= (p.Thr294=)
c.564C= (p.Thr188=)
c.105C= (p.Thr35=)
10g.122506795C>GCA5725958HTRA1c.882C>G (p.Thr294=)
c.564C>G (p.Thr188=)
c.105C>G (p.Thr35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506795C>TCA5725959HTRA1c.882C>T (p.Thr294=)
c.564C>T (p.Thr188=)
c.105C>T (p.Thr35=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506796G>ACA342726HTRA1c.883G>A (p.Gly295Arg)
c.565G>A (p.Gly189Arg)
c.106G>A (p.Gly36Arg)
ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
10g.122506796G>CCA5725960HTRA1c.883G>C (p.Gly295Arg)
c.565G>C (p.Gly189Arg)
c.106G>C (p.Gly36Arg)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506796G=CA1941477233HTRA1c.883G= (p.Gly295=)
c.565G= (p.Gly189=)
c.106G= (p.Gly36=)
10g.122506796G>TCA378585651HTRA1c.883G>T (p.Gly295Trp)
c.565G>T (p.Gly189Trp)
c.106G>T (p.Gly36Trp)
10g.122506797G>ACA5725961HTRA1c.884G>A (p.Gly295Glu)
c.566G>A (p.Gly189Glu)
c.107G>A (p.Gly36Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506797G>CCA378585653HTRA1c.884G>C (p.Gly295Ala)
c.566G>C (p.Gly189Ala)
c.107G>C (p.Gly36Ala)
10g.122506797G=CA1941477234HTRA1c.884G= (p.Gly295=)
c.566G= (p.Gly189=)
c.107G= (p.Gly36=)
10g.122506797G>TCA378585655HTRA1c.884G>T (p.Gly295Val)
c.566G>T (p.Gly189Val)
c.107G>T (p.Gly36Val)
10g.122506798G>ACA471666900HTRA1c.885G>A (p.Gly295=)
c.567G>A (p.Gly189=)
c.108G>A (p.Gly36=)
10g.122506798G>CCA471666901HTRA1c.885G>C (p.Gly295=)
c.567G>C (p.Gly189=)
c.108G>C (p.Gly36=)
10g.122506798G>TCA471666904HTRA1c.885G>T (p.Gly295=)
c.567G>T (p.Gly189=)
c.108G>T (p.Gly36=)
10g.122506799A>CCA378585657HTRA1c.886A>C (p.Ile296Leu)
c.568A>C (p.Ile190Leu)
c.109A>C (p.Ile37Leu)
10g.122506799A>GCA378585659HTRA1c.886A>G (p.Ile296Val)
c.568A>G (p.Ile190Val)
c.109A>G (p.Ile37Val)
10g.122506799A>TCA378585661HTRA1c.886A>T (p.Ile296Phe)
c.568A>T (p.Ile190Phe)
c.109A>T (p.Ile37Phe)
10g.122506800T>ACA378585665HTRA1c.887T>A (p.Ile296Asn)
c.569T>A (p.Ile190Asn)
c.110T>A (p.Ile37Asn)
10g.122506800T>CCA214411347HTRA1c.887T>C (p.Ile296Thr)
c.569T>C (p.Ile190Thr)
c.110T>C (p.Ile37Thr)
dbSNP
10g.122506800T>GCA378585663HTRA1c.887T>G (p.Ile296Ser)
c.569T>G (p.Ile190Ser)
c.110T>G (p.Ile37Ser)
10g.122506800T=CA1941477235HTRA1c.887T= (p.Ile296=)
c.569T= (p.Ile190=)
c.110T= (p.Ile37=)
10g.122506801C>ACA471666913HTRA1c.888C>A (p.Ile296=)
c.570C>A (p.Ile190=)
c.111C>A (p.Ile37=)
10g.122506801C=CA1941477236HTRA1c.888C= (p.Ile296=)
c.570C= (p.Ile190=)
c.111C= (p.Ile37=)
10g.122506801C>GCA378585667HTRA1c.888C>G (p.Ile296Met)
c.570C>G (p.Ile190Met)
c.111C>G (p.Ile37Met)
ClinVar dbSNP
10g.122506801C>TCA5725962HTRA1c.888C>T (p.Ile296=)
c.570C>T (p.Ile190=)
c.111C>T (p.Ile37=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506802G>ACA340685HTRA1c.889G>A (p.Val297Met)
c.571G>A (p.Val191Met)
c.112G>A (p.Val38Met)
ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
10g.122506802G>CCA378585670HTRA1c.889G>C (p.Val297Leu)
c.571G>C (p.Val191Leu)
c.112G>C (p.Val38Leu)
10g.122506802G=CA1941477237HTRA1c.889G= (p.Val297=)
c.571G= (p.Val191=)
c.112G= (p.Val38=)
10g.122506802G>TCA378585672HTRA1c.889G>T (p.Val297Leu)
c.571G>T (p.Val191Leu)
c.112G>T (p.Val38Leu)
10g.122506803T>ACA378585674HTRA1c.890T>A (p.Val297Glu)
c.572T>A (p.Val191Glu)
c.113T>A (p.Val38Glu)
10g.122506803T>CCA378585675HTRA1c.890T>C (p.Val297Ala)
c.572T>C (p.Val191Ala)
c.113T>C (p.Val38Ala)
10g.122506803T>GCA378585677HTRA1c.890T>G (p.Val297Gly)
c.572T>G (p.Val191Gly)
c.113T>G (p.Val38Gly)
10g.122506804G>ACA471666921HTRA1c.891G>A (p.Val297=)
c.573G>A (p.Val191=)
c.114G>A (p.Val38=)
gnomAD v4
10g.122506804G>CCA471666923HTRA1c.891G>C (p.Val297=)
c.573G>C (p.Val191=)
c.114G>C (p.Val38=)
10g.122506804G>TCA471666922HTRA1c.891G>T (p.Val297=)
c.573G>T (p.Val191=)
c.114G>T (p.Val38=)
10g.122506805A>CCA378585679HTRA1c.892A>C (p.Ser298Arg)
c.574A>C (p.Ser192Arg)
c.115A>C (p.Ser39Arg)
10g.122506805A>GCA378585681HTRA1c.892A>G (p.Ser298Gly)
c.574A>G (p.Ser192Gly)
c.115A>G (p.Ser39Gly)
10g.122506805A>TCA378585682HTRA1c.892A>T (p.Ser298Cys)
c.574A>T (p.Ser192Cys)
c.115A>T (p.Ser39Cys)
10g.122506806G>ACA378585683HTRA1c.893G>A (p.Ser298Asn)
c.575G>A (p.Ser192Asn)
c.116G>A (p.Ser39Asn)
ClinVar dbSNP
10g.122506806G>CCA378585685HTRA1c.893G>C (p.Ser298Thr)
c.575G>C (p.Ser192Thr)
c.116G>C (p.Ser39Thr)
10g.122506806G>TCA378585687HTRA1c.893G>T (p.Ser298Ile)
c.575G>T (p.Ser192Ile)
c.116G>T (p.Ser39Ile)
10g.122506807C>ACA378585689HTRA1c.894C>A (p.Ser298Arg)
c.576C>A (p.Ser192Arg)
c.117C>A (p.Ser39Arg)
10g.122506807C>GCA378585691HTRA1c.894C>G (p.Ser298Arg)
c.576C>G (p.Ser192Arg)
c.117C>G (p.Ser39Arg)
10g.122506807C>TCA471666929HTRA1c.894C>T (p.Ser298=)
c.576C>T (p.Ser192=)
c.117C>T (p.Ser39=)
10g.122506808A>CCA378585693HTRA1c.895A>C (p.Thr299Pro)
c.577A>C (p.Thr193Pro)
c.118A>C (p.Thr40Pro)
10g.122506808A>GCA378585694HTRA1c.895A>G (p.Thr299Ala)
c.577A>G (p.Thr193Ala)
c.118A>G (p.Thr40Ala)
10g.122506808A>TCA378585697HTRA1c.895A>T (p.Thr299Ser)
c.577A>T (p.Thr193Ser)
c.118A>T (p.Thr40Ser)
10g.122506809C>ACA378585699HTRA1c.896C>A (p.Thr299Asn)
c.578C>A (p.Thr193Asn)
c.119C>A (p.Thr40Asn)
10g.122506809C>GCA378585701HTRA1c.896C>G (p.Thr299Ser)
c.578C>G (p.Thr193Ser)
c.119C>G (p.Thr40Ser)
10g.122506809C>TCA378585703HTRA1c.896C>T (p.Thr299Ile)
c.578C>T (p.Thr193Ile)
c.119C>T (p.Thr40Ile)
10g.122506810C>ACA471666930HTRA1c.897C>A (p.Thr299=)
c.579C>A (p.Thr193=)
c.120C>A (p.Thr40=)
10g.122506810C>GCA471666931HTRA1c.897C>G (p.Thr299=)
c.579C>G (p.Thr193=)
c.120C>G (p.Thr40=)
10g.122506810C>TCA471666932HTRA1c.897C>T (p.Thr299=)
c.579C>T (p.Thr193=)
c.120C>T (p.Thr40=)
10g.122506811A>CCA378585705HTRA1c.898A>C (p.Thr300Pro)
c.580A>C (p.Thr194Pro)
c.121A>C (p.Thr41Pro)
10g.122506811A>GCA378585707HTRA1c.898A>G (p.Thr300Ala)
c.580A>G (p.Thr194Ala)
c.121A>G (p.Thr41Ala)
10g.122506811A>TCA378585708HTRA1c.898A>T (p.Thr300Ser)
c.580A>T (p.Thr194Ser)
c.121A>T (p.Thr41Ser)
10g.122506812C>ACA378585711HTRA1c.899C>A (p.Thr300Asn)
c.581C>A (p.Thr194Asn)
c.122C>A (p.Thr41Asn)
10g.122506812C>GCA378585712HTRA1c.899C>G (p.Thr300Ser)
c.581C>G (p.Thr194Ser)
c.122C>G (p.Thr41Ser)
10g.122506812C>TCA378585714HTRA1c.899C>T (p.Thr300Ile)
c.581C>T (p.Thr194Ile)
c.122C>T (p.Thr41Ile)
10g.122506813C>ACA471666936HTRA1c.900C>A (p.Thr300=)
c.582C>A (p.Thr194=)
c.123C>A (p.Thr41=)
gnomAD v4
10g.122506813C=CA1941477238HTRA1c.900C= (p.Thr300=)
c.582C= (p.Thr194=)
c.123C= (p.Thr41=)
10g.122506813C>GCA471666937HTRA1c.900C>G (p.Thr300=)
c.582C>G (p.Thr194=)
c.123C>G (p.Thr41=)
gnomAD v4
10g.122506813C>TCA214411368HTRA1c.900C>T (p.Thr300=)
c.582C>T (p.Thr194=)
c.123C>T (p.Thr41=)
dbSNP
10g.122506814C>ACA378585718HTRA1c.901C>A (p.Gln301Lys)
c.583C>A (p.Gln195Lys)
c.124C>A (p.Gln42Lys)
10g.122506814C>GCA378585721HTRA1c.901C>G (p.Gln301Glu)
c.583C>G (p.Gln195Glu)
c.124C>G (p.Gln42Glu)
10g.122506814C>TCA378585717HTRA1c.901C>T (p.Gln301Ter)
c.583C>T (p.Gln195Ter)
c.124C>T (p.Gln42Ter)
10g.122506815A>CCA378585723HTRA1c.902A>C (p.Gln301Pro)
c.584A>C (p.Gln195Pro)
c.125A>C (p.Gln42Pro)
10g.122506815A>GCA378585724HTRA1c.902A>G (p.Gln301Arg)
c.584A>G (p.Gln195Arg)
c.125A>G (p.Gln42Arg)
10g.122506815A>TCA378585726HTRA1c.902A>T (p.Gln301Leu)
c.584A>T (p.Gln195Leu)
c.125A>T (p.Gln42Leu)
10g.122506816G>ACA471666941HTRA1c.903G>A (p.Gln301=)
c.585G>A (p.Gln195=)
c.126G>A (p.Gln42=)
dbSNP
10g.122506816G>CCA378585727HTRA1c.903G>C (p.Gln301His)
c.585G>C (p.Gln195His)
c.126G>C (p.Gln42His)
dbSNP gnomAD v3 gnomAD v4
10g.122506816G=CA1941477239HTRA1c.903G= (p.Gln301=)
c.585G= (p.Gln195=)
c.126G= (p.Gln42=)
10g.122506816G>TCA378585729HTRA1c.903G>T (p.Gln301His)
c.585G>T (p.Gln195His)
c.126G>T (p.Gln42His)
10g.122506817C>ACA471666942HTRA1c.904C>A (p.Arg302=)
c.586C>A (p.Arg196=)
c.127C>A (p.Arg43=)
gnomAD v4
10g.122506817C=CA1941477240HTRA1c.904C= (p.Arg302=)
c.586C= (p.Arg196=)
c.127C= (p.Arg43=)
10g.122506817C>GCA378585731HTRA1c.904C>G (p.Arg302Gly)
c.586C>G (p.Arg196Gly)
c.127C>G (p.Arg43Gly)
10g.122506817C>TCA340683HTRA1c.904C>T (p.Arg302Ter)
c.586C>T (p.Arg196Ter)
c.127C>T (p.Arg43Ter)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506818G>ACA378585732HTRA1c.905G>A (p.Arg302Gln)
c.587G>A (p.Arg196Gln)
c.128G>A (p.Arg43Gln)
ClinVar dbSNP gnomAD v4 COSMIC
10g.122506818G>CCA378585734HTRA1c.905G>C (p.Arg302Pro)
c.587G>C (p.Arg196Pro)
c.128G>C (p.Arg43Pro)
10g.122506818G>TCA378585735HTRA1c.905G>T (p.Arg302Leu)
c.587G>T (p.Arg196Leu)
c.128G>T (p.Arg43Leu)
10g.122506819A>CCA471666944HTRA1c.906A>C (p.Arg302=)
c.588A>C (p.Arg196=)
c.129A>C (p.Arg43=)
10g.122506819A>GCA471666945HTRA1c.906A>G (p.Arg302=)
c.588A>G (p.Arg196=)
c.129A>G (p.Arg43=)
10g.122506819A>TCA471666946HTRA1c.906A>T (p.Arg302=)
c.588A>T (p.Arg196=)
c.129A>T (p.Arg43=)
10g.122506820G>ACA5725963HTRA1c.907G>A (p.Gly303Ser)
c.589G>A (p.Gly197Ser)
c.130G>A (p.Gly44Ser)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506820G>CCA378585738HTRA1c.907G>C (p.Gly303Arg)
c.589G>C (p.Gly197Arg)
c.130G>C (p.Gly44Arg)
gnomAD v4
10g.122506820G=CA1941477241HTRA1c.907G= (p.Gly303=)
c.589G= (p.Gly197=)
c.130G= (p.Gly44=)
10g.122506820G>TCA378585740HTRA1c.907G>T (p.Gly303Cys)
c.589G>T (p.Gly197Cys)
c.130G>T (p.Gly44Cys)
10g.122506821G>ACA378585743HTRA1c.908G>A (p.Gly303Asp)
c.590G>A (p.Gly197Asp)
c.131G>A (p.Gly44Asp)
10g.122506821G>CCA378585742HTRA1c.908G>C (p.Gly303Ala)
c.590G>C (p.Gly197Ala)
c.131G>C (p.Gly44Ala)
10g.122506821G>TCA378585741HTRA1c.908G>T (p.Gly303Val)
c.590G>T (p.Gly197Val)
c.131G>T (p.Gly44Val)
10g.122506822C>ACA471666948HTRA1c.909C>A (p.Gly303=)
c.591C>A (p.Gly197=)
c.132C>A (p.Gly44=)
10g.122506822C=CA1941477242HTRA1c.909C= (p.Gly303=)
c.591C= (p.Gly197=)
c.132C= (p.Gly44=)
10g.122506822C>GCA471666949HTRA1c.909C>G (p.Gly303=)
c.591C>G (p.Gly197=)
c.132C>G (p.Gly44=)
10g.122506822C>TCA5725964HTRA1c.909C>T (p.Gly303=)
c.591C>T (p.Gly197=)
c.132C>T (p.Gly44=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506823G>ACA378585744HTRA1c.910G>A (p.Gly304Ser)
c.592G>A (p.Gly198Ser)
c.133G>A (p.Gly45Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506823G>CCA378585745HTRA1c.910G>C (p.Gly304Arg)
c.592G>C (p.Gly198Arg)
c.133G>C (p.Gly45Arg)
ClinVar
10g.122506823G=CA1941477243HTRA1c.910G= (p.Gly304=)
c.592G= (p.Gly198=)
c.133G= (p.Gly45=)
10g.122506823G>TCA378585746HTRA1c.910G>T (p.Gly304Cys)
c.592G>T (p.Gly198Cys)
c.133G>T (p.Gly45Cys)
10g.122506824G>ACA378585747HTRA1c.911G>A (p.Gly304Asp)
c.593G>A (p.Gly198Asp)
c.134G>A (p.Gly45Asp)
COSMIC
10g.122506824G>CCA378585748HTRA1c.911G>C (p.Gly304Ala)
c.593G>C (p.Gly198Ala)
c.134G>C (p.Gly45Ala)
10g.122506824G>TCA378585749HTRA1c.911G>T (p.Gly304Val)
c.593G>T (p.Gly198Val)
c.134G>T (p.Gly45Val)
10g.122506825C>ACA471666955HTRA1c.912C>A (p.Gly304=)
c.594C>A (p.Gly198=)
c.135C>A (p.Gly45=)
10g.122506825C>GCA471666954HTRA1c.912C>G (p.Gly304=)
c.594C>G (p.Gly198=)
c.135C>G (p.Gly45=)
10g.122506825C>TCA471666953HTRA1c.912C>T (p.Gly304=)
c.594C>T (p.Gly198=)
c.135C>T (p.Gly45=)
10g.122506826A>CCA378585750HTRA1c.913A>C (p.Lys305Gln)
c.595A>C (p.Lys199Gln)
c.136A>C (p.Lys46Gln)
10g.122506826A>GCA378585751HTRA1c.913A>G (p.Lys305Glu)
c.595A>G (p.Lys199Glu)
c.136A>G (p.Lys46Glu)
gnomAD v4
10g.122506826A>TCA378585752HTRA1c.913A>T (p.Lys305Ter)
c.595A>T (p.Lys199Ter)
c.136A>T (p.Lys46Ter)
10g.122506827A>CCA378585753HTRA1c.914A>C (p.Lys305Thr)
c.596A>C (p.Lys199Thr)
c.137A>C (p.Lys46Thr)
gnomAD v4
10g.122506827A>GCA378585754HTRA1c.914A>G (p.Lys305Arg)
c.596A>G (p.Lys199Arg)
c.137A>G (p.Lys46Arg)
10g.122506827A>TCA378585755HTRA1c.914A>T (p.Lys305Ile)
c.596A>T (p.Lys199Ile)
c.137A>T (p.Lys46Ile)
10g.122506828A>CCA378585756HTRA1c.915A>C (p.Lys305Asn)
c.597A>C (p.Lys199Asn)
c.138A>C (p.Lys46Asn)
10g.122506828A>GCA471666956HTRA1c.915A>G (p.Lys305=)
c.597A>G (p.Lys199=)
c.138A>G (p.Lys46=)
gnomAD v4
10g.122506828A>TCA378585757HTRA1c.915A>T (p.Lys305Asn)
c.597A>T (p.Lys199Asn)
c.138A>T (p.Lys46Asn)
10g.122506829G>ACA378585759HTRA1c.916G>A (p.Glu306Lys)
c.598G>A (p.Glu200Lys)
c.139G>A (p.Glu47Lys)
gnomAD v4
10g.122506829G>CCA378585760HTRA1c.916G>C (p.Glu306Gln)
c.598G>C (p.Glu200Gln)
c.139G>C (p.Glu47Gln)
10g.122506829G>TCA378585758HTRA1c.916G>T (p.Glu306Ter)
c.598G>T (p.Glu200Ter)
c.139G>T (p.Glu47Ter)
10g.122506830A>CCA378585761HTRA1c.917A>C (p.Glu306Ala)
c.599A>C (p.Glu200Ala)
c.140A>C (p.Glu47Ala)
10g.122506830A>GCA378585762HTRA1c.917A>G (p.Glu306Gly)
c.599A>G (p.Glu200Gly)
c.140A>G (p.Glu47Gly)
10g.122506830A>TCA378585763HTRA1c.917A>T (p.Glu306Val)
c.599A>T (p.Glu200Val)
c.140A>T (p.Glu47Val)
10g.122506831G>ACA471666957HTRA1c.918G>A (p.Glu306=)
c.600G>A (p.Glu200=)
c.141G>A (p.Glu47=)
gnomAD v4
10g.122506831G>CCA378585764HTRA1c.918G>C (p.Glu306Asp)
c.600G>C (p.Glu200Asp)
c.141G>C (p.Glu47Asp)
10g.122506831G>TCA378585765HTRA1c.918G>T (p.Glu306Asp)
c.600G>T (p.Glu200Asp)
c.141G>T (p.Glu47Asp)
COSMIC
10g.122506832C>ACA378585766HTRA1c.919C>A (p.Leu307Met)
c.601C>A (p.Leu201Met)
c.142C>A (p.Leu48Met)
10g.122506832C>GCA378585767HTRA1c.919C>G (p.Leu307Val)
c.601C>G (p.Leu201Val)
c.142C>G (p.Leu48Val)
10g.122506832C>TCA471666958HTRA1c.919C>T (p.Leu307=)
c.601C>T (p.Leu201=)
c.142C>T (p.Leu48=)
gnomAD v4
10g.122506833T>ACA378585768HTRA1c.920T>A (p.Leu307Gln)
c.602T>A (p.Leu201Gln)
c.143T>A (p.Leu48Gln)
10g.122506833T>CCA378585769HTRA1c.920T>C (p.Leu307Pro)
c.602T>C (p.Leu201Pro)
c.143T>C (p.Leu48Pro)
10g.122506833T>GCA378585770HTRA1c.920T>G (p.Leu307Arg)
c.602T>G (p.Leu201Arg)
c.143T>G (p.Leu48Arg)
10g.122506834G>ACA471666959HTRA1c.921G>A (p.Leu307=)
c.603G>A (p.Leu201=)
c.144G>A (p.Leu48=)
10g.122506834G>CCA471666960HTRA1c.921G>C (p.Leu307=)
c.603G>C (p.Leu201=)
c.144G>C (p.Leu48=)
10g.122506834G>TCA471666961HTRA1c.921G>T (p.Leu307=)
c.603G>T (p.Leu201=)
c.144G>T (p.Leu48=)
10g.122506835G>ACA378585771HTRA1c.922G>A (p.Gly308Arg)
c.604G>A (p.Gly202Arg)
c.145G>A (p.Gly49Arg)
dbSNP gnomAD v4
10g.122506835G>CCA378585772HTRA1c.922G>C (p.Gly308Arg)
c.604G>C (p.Gly202Arg)
c.145G>C (p.Gly49Arg)
10g.122506835G=CA1941477244HTRA1c.922G= (p.Gly308=)
c.604G= (p.Gly202=)
c.145G= (p.Gly49=)
10g.122506835G>TCA378585773HTRA1c.922G>T (p.Gly308Trp)
c.604G>T (p.Gly202Trp)
c.145G>T (p.Gly49Trp)
gnomAD v4
10g.122506836G>ACA378585776HTRA1c.923G>A (p.Gly308Glu)
c.605G>A (p.Gly202Glu)
c.146G>A (p.Gly49Glu)
dbSNP
10g.122506836G>CCA378585774HTRA1c.923G>C (p.Gly308Ala)
c.605G>C (p.Gly202Ala)
c.146G>C (p.Gly49Ala)
10g.122506836G=CA1941477245HTRA1c.923G= (p.Gly308=)
c.605G= (p.Gly202=)
c.146G= (p.Gly49=)
10g.122506836G>TCA378585775HTRA1c.923G>T (p.Gly308Val)
c.605G>T (p.Gly202Val)
c.146G>T (p.Gly49Val)
10g.122506837G>ACA471666963HTRA1c.924G>A (p.Gly308=)
c.606G>A (p.Gly202=)
c.147G>A (p.Gly49=)
10g.122506837G>CCA471666964HTRA1c.924G>C (p.Gly308=)
c.606G>C (p.Gly202=)
c.147G>C (p.Gly49=)
10g.122506837G>TCA471666965HTRA1c.924G>T (p.Gly308=)
c.606G>T (p.Gly202=)
c.147G>T (p.Gly49=)
gnomAD v4
10g.122506838C>ACA378585777HTRA1c.925C>A (p.Leu309Ile)
c.607C>A (p.Leu203Ile)
c.148C>A (p.Leu50Ile)
10g.122506838C=CA1941477246HTRA1c.925C= (p.Leu309=)
c.607C= (p.Leu203=)
c.148C= (p.Leu50=)
10g.122506838C>GCA378585778HTRA1c.925C>G (p.Leu309Val)
c.607C>G (p.Leu203Val)
c.148C>G (p.Leu50Val)
dbSNP gnomAD v2 gnomAD v4
10g.122506838C>TCA214411405HTRA1c.925C>T (p.Leu309Phe)
c.607C>T (p.Leu203Phe)
c.148C>T (p.Leu50Phe)
dbSNP gnomAD v3 gnomAD v4
10g.122506839T>ACA378585779HTRA1c.926T>A (p.Leu309His)
c.608T>A (p.Leu203His)
c.149T>A (p.Leu50His)
10g.122506839T>CCA378585780HTRA1c.926T>C (p.Leu309Pro)
c.608T>C (p.Leu203Pro)
c.149T>C (p.Leu50Pro)
dbSNP
10g.122506839T>GCA378585781HTRA1c.926T>G (p.Leu309Arg)
c.608T>G (p.Leu203Arg)
c.149T>G (p.Leu50Arg)
10g.122506839T=CA1941477247HTRA1c.926T= (p.Leu309=)
c.608T= (p.Leu203=)
c.149T= (p.Leu50=)
10g.122506840C>ACA471666966HTRA1c.927C>A (p.Leu309=)
c.609C>A (p.Leu203=)
c.150C>A (p.Leu50=)
10g.122506840C>GCA471666967HTRA1c.927C>G (p.Leu309=)
c.609C>G (p.Leu203=)
c.150C>G (p.Leu50=)
10g.122506840C>TCA471666968HTRA1c.927C>T (p.Leu309=)
c.609C>T (p.Leu203=)
c.150C>T (p.Leu50=)
COSMIC
10g.122506841C>ACA378585782HTRA1c.928C>A (p.Arg310Ser)
c.610C>A (p.Arg204Ser)
c.151C>A (p.Arg51Ser)
10g.122506841C=CA1941477248HTRA1c.928C= (p.Arg310=)
c.610C= (p.Arg204=)
c.151C= (p.Arg51=)
10g.122506841C>GCA5725966HTRA1c.928C>G (p.Arg310Gly)
c.610C>G (p.Arg204Gly)
c.151C>G (p.Arg51Gly)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506841C>TCA5725965HTRA1c.928C>T (p.Arg310Cys)
c.610C>T (p.Arg204Cys)
c.151C>T (p.Arg51Cys)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506842G>ACA5725967HTRA1c.929G>A (p.Arg310His)
c.611G>A (p.Arg204His)
c.152G>A (p.Arg51His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506842G>CCA378585783HTRA1c.929G>C (p.Arg310Pro)
c.611G>C (p.Arg204Pro)
c.152G>C (p.Arg51Pro)
10g.122506842G=CA1941477249HTRA1c.929G= (p.Arg310=)
c.611G= (p.Arg204=)
c.152G= (p.Arg51=)
10g.122506842G>TCA378585784HTRA1c.929G>T (p.Arg310Leu)
c.611G>T (p.Arg204Leu)
c.152G>T (p.Arg51Leu)
10g.122506843C>ACA471666970HTRA1c.930C>A (p.Arg310=)
c.612C>A (p.Arg204=)
c.153C>A (p.Arg51=)
10g.122506843C>GCA471666971HTRA1c.930C>G (p.Arg310=)
c.612C>G (p.Arg204=)
c.153C>G (p.Arg51=)
gnomAD v4
10g.122506843C>TCA471666972HTRA1c.930C>T (p.Arg310=)
c.612C>T (p.Arg204=)
c.153C>T (p.Arg51=)
10g.122506844A>CCA378585785HTRA1c.931A>C (p.Asn311His)
c.613A>C (p.Asn205His)
c.154A>C (p.Asn52His)
10g.122506844A>GCA378585787HTRA1c.931A>G (p.Asn311Asp)
c.613A>G (p.Asn205Asp)
c.154A>G (p.Asn52Asp)
10g.122506844A>TCA378585786HTRA1c.931A>T (p.Asn311Tyr)
c.613A>T (p.Asn205Tyr)
c.154A>T (p.Asn52Tyr)
10g.122506845A>CCA378585788HTRA1c.932A>C (p.Asn311Thr)
c.614A>C (p.Asn205Thr)
c.155A>C (p.Asn52Thr)
10g.122506845A>GCA378585789HTRA1c.932A>G (p.Asn311Ser)
c.614A>G (p.Asn205Ser)
c.155A>G (p.Asn52Ser)
10g.122506845A>TCA378585790HTRA1c.932A>T (p.Asn311Ile)
c.614A>T (p.Asn205Ile)
c.155A>T (p.Asn52Ile)
10g.122506846C>ACA378585791HTRA1c.933C>A (p.Asn311Lys)
c.615C>A (p.Asn205Lys)
c.156C>A (p.Asn52Lys)
10g.122506846C>GCA378585792HTRA1c.933C>G (p.Asn311Lys)
c.615C>G (p.Asn205Lys)
c.156C>G (p.Asn52Lys)
10g.122506846C>TCA471666973HTRA1c.933C>T (p.Asn311=)
c.615C>T (p.Asn205=)
c.156C>T (p.Asn52=)
10g.122506847T>ACA378585793HTRA1c.934T>A (p.Ser312Thr)
c.616T>A (p.Ser206Thr)
c.157T>A (p.Ser53Thr)
10g.122506847T>CCA378585794HTRA1c.934T>C (p.Ser312Pro)
c.616T>C (p.Ser206Pro)
c.157T>C (p.Ser53Pro)
10g.122506847T>GCA378585795HTRA1c.934T>G (p.Ser312Ala)
c.616T>G (p.Ser206Ala)
c.157T>G (p.Ser53Ala)
10g.122506848C>ACA378585796HTRA1c.935C>A (p.Ser312Ter)
c.617C>A (p.Ser206Ter)
c.158C>A (p.Ser53Ter)
10g.122506848C=CA1941477250HTRA1c.935C= (p.Ser312=)
c.617C= (p.Ser206=)
c.158C= (p.Ser53=)
10g.122506848C>GCA5725968HTRA1c.935C>G (p.Ser312Ter)
c.617C>G (p.Ser206Ter)
c.158C>G (p.Ser53Ter)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506848C>TCA378585797HTRA1c.935C>T (p.Ser312Leu)
c.617C>T (p.Ser206Leu)
c.158C>T (p.Ser53Leu)
10g.122506849A=CA1941477251HTRA1c.936A= (p.Ser312=)
c.618A= (p.Ser206=)
c.159A= (p.Ser53=)
10g.122506849A>CCA5725970HTRA1c.936A>C (p.Ser312=)
c.618A>C (p.Ser206=)
c.159A>C (p.Ser53=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506849A>GCA5725969HTRA1c.936A>G (p.Ser312=)
c.618A>G (p.Ser206=)
c.159A>G (p.Ser53=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506849A>TCA471666974HTRA1c.936A>T (p.Ser312=)
c.618A>T (p.Ser206=)
c.159A>T (p.Ser53=)
10g.122506850G>ACA378585800HTRA1c.937G>A (p.Asp313Asn)
c.619G>A (p.Asp207Asn)
c.160G>A (p.Asp54Asn)
10g.122506850G>CCA378585799HTRA1c.937G>C (p.Asp313His)
c.619G>C (p.Asp207His)
c.160G>C (p.Asp54His)
10g.122506850G>TCA378585798HTRA1c.937G>T (p.Asp313Tyr)
c.619G>T (p.Asp207Tyr)
c.160G>T (p.Asp54Tyr)
10g.122506851A>CCA378585801HTRA1c.938A>C (p.Asp313Ala)
c.620A>C (p.Asp207Ala)
c.161A>C (p.Asp54Ala)
10g.122506851A>GCA378585802HTRA1c.938A>G (p.Asp313Gly)
c.620A>G (p.Asp207Gly)
c.161A>G (p.Asp54Gly)
10g.122506851A>TCA378585803HTRA1c.938A>T (p.Asp313Val)
c.620A>T (p.Asp207Val)
c.161A>T (p.Asp54Val)
10g.122506852C>ACA378585804HTRA1c.939C>A (p.Asp313Glu)
c.621C>A (p.Asp207Glu)
c.162C>A (p.Asp54Glu)
10g.122506852C>GCA378585805HTRA1c.939C>G (p.Asp313Glu)
c.621C>G (p.Asp207Glu)
c.162C>G (p.Asp54Glu)
10g.122506852C>TCA471666975HTRA1c.939C>T (p.Asp313=)
c.621C>T (p.Asp207=)
c.162C>T (p.Asp54=)
10g.122506853A=CA1941477252HTRA1c.940A= (p.Met314=)
c.622A= (p.Met208=)
c.163A= (p.Met55=)
10g.122506853A>CCA378585806HTRA1c.940A>C (p.Met314Leu)
c.622A>C (p.Met208Leu)
c.163A>C (p.Met55Leu)
10g.122506853A>GCA5725971HTRA1c.940A>G (p.Met314Val)
c.622A>G (p.Met208Val)
c.163A>G (p.Met55Val)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506853A>TCA378585807HTRA1c.940A>T (p.Met314Leu)
c.622A>T (p.Met208Leu)
c.163A>T (p.Met55Leu)
10g.122506854T>ACA378585808HTRA1c.941T>A (p.Met314Lys)
c.623T>A (p.Met208Lys)
c.164T>A (p.Met55Lys)
10g.122506854T>CCA5725972HTRA1c.941T>C (p.Met314Thr)
c.623T>C (p.Met208Thr)
c.164T>C (p.Met55Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506854T>GCA378585809HTRA1c.941T>G (p.Met314Arg)
c.623T>G (p.Met208Arg)
c.164T>G (p.Met55Arg)
10g.122506854T=CA1941477253HTRA1c.941T= (p.Met314=)
c.623T= (p.Met208=)
c.164T= (p.Met55=)
10g.122506855G>ACA378585810HTRA1c.942G>A (p.Met314Ile)
c.624G>A (p.Met208Ile)
c.165G>A (p.Met55Ile)
10g.122506855G>CCA378585811HTRA1c.942G>C (p.Met314Ile)
c.624G>C (p.Met208Ile)
c.165G>C (p.Met55Ile)
10g.122506855G>TCA378585812HTRA1c.942G>T (p.Met314Ile)
c.624G>T (p.Met208Ile)
c.165G>T (p.Met55Ile)
10g.122506856G>ACA378585814HTRA1c.943G>A (p.Asp315Asn)
c.625G>A (p.Asp209Asn)
c.166G>A (p.Asp56Asn)
10g.122506856G>CCA378585815HTRA1c.943G>C (p.Asp315His)
c.625G>C (p.Asp209His)
c.166G>C (p.Asp56His)
10g.122506856G>TCA378585813HTRA1c.943G>T (p.Asp315Tyr)
c.625G>T (p.Asp209Tyr)
c.166G>T (p.Asp56Tyr)
10g.122506857A>CCA378585816HTRA1c.944A>C (p.Asp315Ala)
c.626A>C (p.Asp209Ala)
c.167A>C (p.Asp56Ala)
10g.122506857A>GCA378585817HTRA1c.944A>G (p.Asp315Gly)
c.626A>G (p.Asp209Gly)
c.167A>G (p.Asp56Gly)
10g.122506857A>TCA378585818HTRA1c.944A>T (p.Asp315Val)
c.626A>T (p.Asp209Val)
c.167A>T (p.Asp56Val)
10g.122506858C>ACA378585820HTRA1c.945C>A (p.Asp315Glu)
c.627C>A (p.Asp209Glu)
c.168C>A (p.Asp56Glu)
10g.122506858C>GCA378585821HTRA1c.945C>G (p.Asp315Glu)
c.627C>G (p.Asp209Glu)
c.168C>G (p.Asp56Glu)
10g.122506858C>TCA471666976HTRA1c.945C>T (p.Asp315=)
c.627C>T (p.Asp209=)
c.168C>T (p.Asp56=)
10g.122506859T>ACA378585822HTRA1c.946T>A (p.Tyr316Asn)
c.628T>A (p.Tyr210Asn)
c.169T>A (p.Tyr57Asn)
10g.122506859T>CCA378585823HTRA1c.946T>C (p.Tyr316His)
c.628T>C (p.Tyr210His)
c.169T>C (p.Tyr57His)
10g.122506859T>GCA378585824HTRA1c.946T>G (p.Tyr316Asp)
c.628T>G (p.Tyr210Asp)
c.169T>G (p.Tyr57Asp)
10g.122506860A>CCA378585825HTRA1c.947A>C (p.Tyr316Ser)
c.629A>C (p.Tyr210Ser)
c.170A>C (p.Tyr57Ser)
10g.122506860A>GCA378585826HTRA1c.947A>G (p.Tyr316Cys)
c.629A>G (p.Tyr210Cys)
c.170A>G (p.Tyr57Cys)
10g.122506860A>TCA378585827HTRA1c.947A>T (p.Tyr316Phe)
c.629A>T (p.Tyr210Phe)
c.170A>T (p.Tyr57Phe)
10g.122506861C>ACA378585828HTRA1c.948C>A (p.Tyr316Ter)
c.630C>A (p.Tyr210Ter)
c.171C>A (p.Tyr57Ter)
10g.122506861C=CA1941477254HTRA1c.948C= (p.Tyr316=)
c.630C= (p.Tyr210=)
c.171C= (p.Tyr57=)
10g.122506861C>GCA378585829HTRA1c.948C>G (p.Tyr316Ter)
c.630C>G (p.Tyr210Ter)
c.171C>G (p.Tyr57Ter)
10g.122506861C>TCA471666977HTRA1c.948C>T (p.Tyr316=)
c.630C>T (p.Tyr210=)
c.171C>T (p.Tyr57=)
dbSNP gnomAD v3 gnomAD v4
10g.122506862A>CCA378585830HTRA1c.949A>C (p.Ile317Leu)
c.631A>C (p.Ile211Leu)
c.172A>C (p.Ile58Leu)
10g.122506862A>GCA378585832HTRA1c.949A>G (p.Ile317Val)
c.631A>G (p.Ile211Val)
c.172A>G (p.Ile58Val)
10g.122506862A>TCA378585831HTRA1c.949A>T (p.Ile317Phe)
c.631A>T (p.Ile211Phe)
c.172A>T (p.Ile58Phe)
10g.122506863T>ACA378585833HTRA1c.950T>A (p.Ile317Asn)
c.632T>A (p.Ile211Asn)
c.173T>A (p.Ile58Asn)
10g.122506863T>CCA378585834HTRA1c.950T>C (p.Ile317Thr)
c.632T>C (p.Ile211Thr)
c.173T>C (p.Ile58Thr)
10g.122506863T>GCA378585835HTRA1c.950T>G (p.Ile317Ser)
c.632T>G (p.Ile211Ser)
c.173T>G (p.Ile58Ser)
10g.122506864C>ACA5725973HTRA1c.951C>A (p.Ile317=)
c.633C>A (p.Ile211=)
c.174C>A (p.Ile58=)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506864C=CA1941477255HTRA1c.951C= (p.Ile317=)
c.633C= (p.Ile211=)
c.174C= (p.Ile58=)
10g.122506864C>GCA378585836HTRA1c.951C>G (p.Ile317Met)
c.633C>G (p.Ile211Met)
c.174C>G (p.Ile58Met)
10g.122506864C>TCA471666978HTRA1c.951C>T (p.Ile317=)
c.633C>T (p.Ile211=)
c.174C>T (p.Ile58=)
gnomAD v4 COSMIC
10g.122506865C>ACA378585837HTRA1c.952C>A (p.Gln318Lys)
c.634C>A (p.Gln212Lys)
c.175C>A (p.Gln59Lys)
10g.122506865C>GCA378585838HTRA1c.952C>G (p.Gln318Glu)
c.634C>G (p.Gln212Glu)
c.175C>G (p.Gln59Glu)
10g.122506865C>TCA378585839HTRA1c.952C>T (p.Gln318Ter)
c.634C>T (p.Gln212Ter)
c.175C>T (p.Gln59Ter)
10g.122506866A>CCA378585840HTRA1c.953A>C (p.Gln318Pro)
c.635A>C (p.Gln212Pro)
c.176A>C (p.Gln59Pro)
10g.122506866A>GCA378585841HTRA1c.953A>G (p.Gln318Arg)
c.635A>G (p.Gln212Arg)
c.176A>G (p.Gln59Arg)
10g.122506866A>TCA378585842HTRA1c.953A>T (p.Gln318Leu)
c.635A>T (p.Gln212Leu)
c.176A>T (p.Gln59Leu)
10g.122506867G>ACA471666979HTRA1c.954G>A (p.Gln318=)
c.636G>A (p.Gln212=)
c.177G>A (p.Gln59=)
dbSNP gnomAD v3 gnomAD v4
10g.122506867G>CCA378585843HTRA1c.954G>C (p.Gln318His)
c.636G>C (p.Gln212His)
c.177G>C (p.Gln59His)
dbSNP gnomAD v2 gnomAD v4
10g.122506867G=CA1941477256HTRA1c.954G= (p.Gln318=)
c.636G= (p.Gln212=)
c.177G= (p.Gln59=)
10g.122506867G>TCA378585844HTRA1c.954G>T (p.Gln318His)
c.636G>T (p.Gln212His)
c.177G>T (p.Gln59His)
10g.122506868A>CCA378585845HTRA1c.955A>C (p.Thr319Pro)
c.637A>C (p.Thr213Pro)
c.178A>C (p.Thr60Pro)
10g.122506868A>GCA378585847HTRA1c.955A>G (p.Thr319Ala)
c.637A>G (p.Thr213Ala)
c.178A>G (p.Thr60Ala)
10g.122506868A>TCA378585846HTRA1c.955A>T (p.Thr319Ser)
c.637A>T (p.Thr213Ser)
c.178A>T (p.Thr60Ser)
10g.122506869C>ACA378585848HTRA1c.956C>A (p.Thr319Asn)
c.638C>A (p.Thr213Asn)
c.179C>A (p.Thr60Asn)
10g.122506869C>GCA378585850HTRA1c.956C>G (p.Thr319Ser)
c.638C>G (p.Thr213Ser)
c.179C>G (p.Thr60Ser)
10g.122506869C>TCA378585849HTRA1c.956C>T (p.Thr319Ile)
c.638C>T (p.Thr213Ile)
c.179C>T (p.Thr60Ile)
10g.122506870C>ACA471666980HTRA1c.957C>A (p.Thr319=)
c.639C>A (p.Thr213=)
c.180C>A (p.Thr60=)
dbSNP gnomAD v2 gnomAD v4
10g.122506870C=CA1941477257HTRA1c.957C= (p.Thr319=)
c.639C= (p.Thr213=)
c.180C= (p.Thr60=)
10g.122506870C>GCA5725975HTRA1c.957C>G (p.Thr319=)
c.639C>G (p.Thr213=)
c.180C>G (p.Thr60=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506870C>TCA5725974HTRA1c.957C>T (p.Thr319=)
c.639C>T (p.Thr213=)
c.180C>T (p.Thr60=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506871G>ACA5725976HTRA1c.958G>A (p.Asp320Asn)
c.640G>A (p.Asp214Asn)
c.181G>A (p.Asp61Asn)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506871G>CCA378585851HTRA1c.958G>C (p.Asp320His)
c.640G>C (p.Asp214His)
c.181G>C (p.Asp61His)
10g.122506871G=CA1941477258HTRA1c.958G= (p.Asp320=)
c.640G= (p.Asp214=)
c.181G= (p.Asp61=)
10g.122506871G>TCA378585852HTRA1c.958G>T (p.Asp320Tyr)
c.640G>T (p.Asp214Tyr)
c.181G>T (p.Asp61Tyr)
10g.122506872A=CA1941477259HTRA1c.959A= (p.Asp320=)
c.641A= (p.Asp214=)
c.182A= (p.Asp61=)
10g.122506872A>CCA378585853HTRA1c.959A>C (p.Asp320Ala)
c.641A>C (p.Asp214Ala)
c.182A>C (p.Asp61Ala)
gnomAD v4
10g.122506872A>GCA214411438HTRA1c.959A>G (p.Asp320Gly)
c.641A>G (p.Asp214Gly)
c.182A>G (p.Asp61Gly)
dbSNP
10g.122506872A>TCA378585854HTRA1c.959A>T (p.Asp320Val)
c.641A>T (p.Asp214Val)
c.182A>T (p.Asp61Val)
10g.122506873C>ACA378585856HTRA1c.960C>A (p.Asp320Glu)
c.642C>A (p.Asp214Glu)
c.183C>A (p.Asp61Glu)
gnomAD v4
10g.122506873C=CA1941477260HTRA1c.960C= (p.Asp320=)
c.642C= (p.Asp214=)
c.183C= (p.Asp61=)
10g.122506873C>GCA378585855HTRA1c.960C>G (p.Asp320Glu)
c.642C>G (p.Asp214Glu)
c.183C>G (p.Asp61Glu)
10g.122506873C>TCA5725977HTRA1c.960C>T (p.Asp320=)
c.642C>T (p.Asp214=)
c.183C>T (p.Asp61=)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506874G>ACA346794HTRA1c.961G>A (p.Ala321Thr)
c.643G>A (p.Ala215Thr)
c.184G>A (p.Ala62Thr)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506874G>CCA378585857HTRA1c.961G>C (p.Ala321Pro)
c.643G>C (p.Ala215Pro)
c.184G>C (p.Ala62Pro)
10g.122506874G=CA1941477261HTRA1c.961G= (p.Ala321=)
c.643G= (p.Ala215=)
c.184G= (p.Ala62=)
10g.122506874G>TCA378585858HTRA1c.961G>T (p.Ala321Ser)
c.643G>T (p.Ala215Ser)
c.184G>T (p.Ala62Ser)
10g.122506875C>ACA378585859HTRA1c.962C>A (p.Ala321Asp)
c.644C>A (p.Ala215Asp)
c.185C>A (p.Ala62Asp)
10g.122506875C>GCA378585860HTRA1c.962C>G (p.Ala321Gly)
c.644C>G (p.Ala215Gly)
c.185C>G (p.Ala62Gly)
gnomAD v4
10g.122506875C>TCA378585861HTRA1c.962C>T (p.Ala321Val)
c.644C>T (p.Ala215Val)
c.185C>T (p.Ala62Val)
10g.122506876C>ACA471666983HTRA1c.963C>A (p.Ala321=)
c.645C>A (p.Ala215=)
c.186C>A (p.Ala62=)
10g.122506876C=CA1941477262HTRA1c.963C= (p.Ala321=)
c.645C= (p.Ala215=)
c.186C= (p.Ala62=)
10g.122506876C>GCA471666981HTRA1c.963C>G (p.Ala321=)
c.645C>G (p.Ala215=)
c.186C>G (p.Ala62=)
10g.122506876C>TCA471666982HTRA1c.963C>T (p.Ala321=)
c.645C>T (p.Ala215=)
c.186C>T (p.Ala62=)
dbSNP
10g.122506877A>CCA378585862HTRA1c.964A>C (p.Ile322Leu)
c.646A>C (p.Ile216Leu)
c.187A>C (p.Ile63Leu)
10g.122506877A>GCA378585864HTRA1c.964A>G (p.Ile322Val)
c.646A>G (p.Ile216Val)
c.187A>G (p.Ile63Val)
10g.122506877A>TCA378585863HTRA1c.964A>T (p.Ile322Phe)
c.646A>T (p.Ile216Phe)
c.187A>T (p.Ile63Phe)
10g.122506878T>ACA378585865HTRA1c.965T>A (p.Ile322Asn)
c.647T>A (p.Ile216Asn)
c.188T>A (p.Ile63Asn)
gnomAD v4
10g.122506878T>CCA378585866HTRA1c.965T>C (p.Ile322Thr)
c.647T>C (p.Ile216Thr)
c.188T>C (p.Ile63Thr)
10g.122506878T>GCA378585867HTRA1c.965T>G (p.Ile322Ser)
c.647T>G (p.Ile216Ser)
c.188T>G (p.Ile63Ser)
10g.122506879C>ACA471666984HTRA1c.966C>A (p.Ile322=)
c.648C>A (p.Ile216=)
c.189C>A (p.Ile63=)
10g.122506879C>GCA378585868HTRA1c.966C>G (p.Ile322Met)
c.648C>G (p.Ile216Met)
c.189C>G (p.Ile63Met)
10g.122506879C>TCA471666985HTRA1c.966C>T (p.Ile322=)
c.648C>T (p.Ile216=)
c.189C>T (p.Ile63=)
10g.122506880A>CCA378585869HTRA1c.967A>C (p.Ile323Leu)
c.649A>C (p.Ile217Leu)
c.190A>C (p.Ile64Leu)
10g.122506880A>GCA378585870HTRA1c.967A>G (p.Ile323Val)
c.649A>G (p.Ile217Val)
c.190A>G (p.Ile64Val)
10g.122506880A>TCA378585871HTRA1c.967A>T (p.Ile323Phe)
c.649A>T (p.Ile217Phe)
c.190A>T (p.Ile64Phe)
10g.122506881T>ACA378585872HTRA1c.968T>A (p.Ile323Asn)
c.650T>A (p.Ile217Asn)
c.191T>A (p.Ile64Asn)
10g.122506881T>CCA378585873HTRA1c.968T>C (p.Ile323Thr)
c.650T>C (p.Ile217Thr)
c.191T>C (p.Ile64Thr)
10g.122506881T>GCA378585874HTRA1c.968T>G (p.Ile323Ser)
c.650T>G (p.Ile217Ser)
c.191T>G (p.Ile64Ser)
10g.122506882C>ACA471666986HTRA1c.969C>A (p.Ile323=)
c.651C>A (p.Ile217=)
c.192C>A (p.Ile64=)
gnomAD v4
10g.122506882C>GCA378585875HTRA1c.969C>G (p.Ile323Met)
c.651C>G (p.Ile217Met)
c.192C>G (p.Ile64Met)
10g.122506882C>TCA471666987HTRA1c.969C>T (p.Ile323=)
c.651C>T (p.Ile217=)
c.192C>T (p.Ile64=)
10g.122506883A=CA1941477263HTRA1c.970A= (p.Asn324=)
c.652A= (p.Asn218=)
c.193A= (p.Asn65=)
10g.122506883A>CCA378585876HTRA1c.970A>C (p.Asn324His)
c.652A>C (p.Asn218His)
c.193A>C (p.Asn65His)
10g.122506883A>GCA5725978HTRA1c.970A>G (p.Asn324Asp)
c.652A>G (p.Asn218Asp)
c.193A>G (p.Asn65Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506883A>TCA378585877HTRA1c.970A>T (p.Asn324Tyr)
c.652A>T (p.Asn218Tyr)
c.193A>T (p.Asn65Tyr)
10g.122506884A=CA1941477264HTRA1c.971A= (p.Asn324=)
c.653A= (p.Asn218=)
c.194A= (p.Asn65=)
10g.122506884A>CCA378585878HTRA1c.971A>C (p.Asn324Thr)
c.653A>C (p.Asn218Thr)
c.194A>C (p.Asn65Thr)
ClinVar dbSNP
10g.122506884A>GCA378585879HTRA1c.971A>G (p.Asn324Ser)
c.653A>G (p.Asn218Ser)
c.194A>G (p.Asn65Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506884A>TCA378585880HTRA1c.971A>T (p.Asn324Ile)
c.653A>T (p.Asn218Ile)
c.194A>T (p.Asn65Ile)
gnomAD v4
10g.122506885C>ACA378585881HTRA1c.972C>A (p.Asn324Lys)
c.654C>A (p.Asn218Lys)
c.195C>A (p.Asn65Lys)
10g.122506885C=CA1941477265HTRA1c.972C= (p.Asn324=)
c.654C= (p.Asn218=)
c.195C= (p.Asn65=)
10g.122506885C>GCA378585882HTRA1c.972C>G (p.Asn324Lys)
c.654C>G (p.Asn218Lys)
c.195C>G (p.Asn65Lys)
10g.122506885C>TCA5725979HTRA1c.972C>T (p.Asn324=)
c.654C>T (p.Asn218=)
c.195C>T (p.Asn65=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
10g.122506885_122506886insTATGGAAACTCCA2722881991HTRA1c.972_972+1insTATGGAAACTC (p.Gly329MetfsTer8)
c.654_654+1insTATGGAAACTC (p.Gly223MetfsTer8)
c.195_195+1insTATGGAAACTC (p.Gly70MetfsTer8)
dbSNP
10g.122506885_122506886insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTGCA2789768176HTRA1c.972_972+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.972_972+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG)
c.654_654+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.654_654+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG)
c.195_195+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.195_195+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG)
10g.122506886G>ACA378585883HTRA1c.972+1G>A (n.972+1G>A)
c.654+1G>A (n.654+1G>A)
c.195+1G>A (n.195+1G>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506886G>CCA378585884HTRA1c.972+1G>C (n.972+1G>C)
c.654+1G>C (n.654+1G>C)
c.195+1G>C (n.195+1G>C)
ClinVar dbSNP gnomAD v4
10g.122506886G=CA1941477266HTRA1c.972+1G= (n.972+1G=)
c.654+1G= (n.654+1G=)
c.195+1G= (n.195+1G=)
10g.122506886G>TCA378585885HTRA1c.972+1G>T (n.972+1G>T)
c.654+1G>T (n.654+1G>T)
c.195+1G>T (n.195+1G>T)
10g.122506887T>ACA378585886HTRA1c.972+2T>A (n.972+2T>A)
c.654+2T>A (n.654+2T>A)
c.195+2T>A (n.195+2T>A)
10g.122506887T>CCA378585887HTRA1c.972+2T>C (n.972+2T>C)
c.654+2T>C (n.654+2T>C)
c.195+2T>C (n.195+2T>C)
10g.122506887T>GCA378585888HTRA1c.972+2T>G (n.972+2T>G)
c.654+2T>G (n.654+2T>G)
c.195+2T>G (n.195+2T>G)
10g.122506888G>ACA1941477268HTRA1c.972+3G>A (n.972+3G>A)
c.654+3G>A (n.654+3G>A)
c.195+3G>A (n.195+3G>A)
dbSNP
10g.122506888G>CCA2611246632HTRA1c.972+3G>C (n.972+3G>C)
c.654+3G>C (n.654+3G>C)
c.195+3G>C (n.195+3G>C)
gnomAD v4
10g.122506888G=CA1941477267HTRA1c.972+3G= (n.972+3G=)
c.654+3G= (n.654+3G=)
c.195+3G= (n.195+3G=)
10g.122506889A>GCA2574697801HTRA1c.972+4A>G (n.972+4A>G)
c.654+4A>G (n.654+4A>G)
c.195+4A>G (n.195+4A>G)

Number of alleles fetched