Chr Mutation (hg38) CAid Gene Transcript Linkouts
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)
10g.122506890G>ACA2611246633HTRA1c.972+5G>A (n.972+5G>A)
c.654+5G>A (n.654+5G>A)
c.195+5G>A (n.195+5G>A)
gnomAD v4
10g.122506891C>ACA5725980HTRA1c.972+6C>A (n.972+6C>A)
c.654+6C>A (n.654+6C>A)
c.195+6C>A (n.195+6C>A)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506891C=CA1941477269HTRA1c.972+6C= (n.972+6C=)
c.654+6C= (n.654+6C=)
c.195+6C= (n.195+6C=)
10g.122506891C>GCA2611246634HTRA1c.972+6C>G (n.972+6C>G)
c.654+6C>G (n.654+6C>G)
c.195+6C>G (n.195+6C>G)
gnomAD v4
10g.122506892C=CA1941477270HTRA1c.972+7C= (n.972+7C=)
c.654+7C= (n.654+7C=)
c.195+7C= (n.195+7C=)
10g.122506892C>GCA2611246635HTRA1c.972+7C>G (n.972+7C>G)
c.654+7C>G (n.654+7C>G)
c.195+7C>G (n.195+7C>G)
gnomAD v4
10g.122506892C>TCA5725981HTRA1c.972+7C>T (n.972+7C>T)
c.654+7C>T (n.654+7C>T)
c.195+7C>T (n.195+7C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506893T>GCA2789768177HTRA1c.972+8T>G (n.972+8T>G)
c.654+8T>G (n.654+8T>G)
c.195+8T>G (n.195+8T>G)
10g.122506895T>CCA2789768178HTRA1c.972+10T>C (n.972+10T>C)
c.654+10T>C (n.654+10T>C)
c.195+10T>C (n.195+10T>C)
10g.122506895T>GCA2611246636HTRA1c.972+10T>G (n.972+10T>G)
c.654+10T>G (n.654+10T>G)
c.195+10T>G (n.195+10T>G)
gnomAD v4
10g.122506896G>TCA2611246637HTRA1c.972+11G>T (n.972+11G>T)
c.654+11G>T (n.654+11G>T)
c.195+11G>T (n.195+11G>T)
gnomAD v4
10g.122506897_122506898delinsTCCA1941477271HTRA1c.972+12_972+13delinsTC (n.972+12_972+13delinsTC)
c.654+12_654+13delinsTC (n.654+12_654+13delinsTC)
c.195+12_195+13delinsTC (n.195+12_195+13delinsTC)
10g.122506898C>ACA2611246638HTRA1c.972+13C>A (n.972+13C>A)
c.654+13C>A (n.654+13C>A)
c.195+13C>A (n.195+13C>A)
gnomAD v4
10g.122506898C>TCA2611246639HTRA1c.972+13C>T (n.972+13C>T)
c.654+13C>T (n.654+13C>T)
c.195+13C>T (n.195+13C>T)
gnomAD v4
10g.122506900delCA5725982HTRA1c.972+15del (n.972+15del)
c.654+15del (n.654+15del)
c.195+15del (n.195+15del)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506899C>ACA2611246640HTRA1c.972+14C>A (n.972+14C>A)
c.654+14C>A (n.654+14C>A)
c.195+14C>A (n.195+14C>A)
gnomAD v4
10g.122506900C>GCA2611246641HTRA1c.972+15C>G (n.972+15C>G)
c.654+15C>G (n.654+15C>G)
c.195+15C>G (n.195+15C>G)
gnomAD v4
10g.122506904G>TCA2611246642HTRA1c.972+19G>T (n.972+19G>T)
c.654+19G>T (n.654+19G>T)
c.195+19G>T (n.195+19G>T)
gnomAD v4
10g.122506905C>ACA596579033HTRA1c.972+20C>A (n.972+20C>A)
c.654+20C>A (n.654+20C>A)
c.195+20C>A (n.195+20C>A)
dbSNP gnomAD v2 gnomAD v4
10g.122506905C=CA1941477272HTRA1c.972+20C= (n.972+20C=)
c.654+20C= (n.654+20C=)
c.195+20C= (n.195+20C=)
10g.122506905C>TCA5725983HTRA1c.972+20C>T (n.972+20C>T)
c.654+20C>T (n.654+20C>T)
c.195+20C>T (n.195+20C>T)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506906G>ACA5725984HTRA1c.972+21G>A (n.972+21G>A)
c.654+21G>A (n.654+21G>A)
c.195+21G>A (n.195+21G>A)
dbSNP ExAC gnomAD v2 gnomAD v4
10g.122506906G>CCA5725985HTRA1c.972+21G>C (n.972+21G>C)
c.654+21G>C (n.654+21G>C)
c.195+21G>C (n.195+21G>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506906G=CA1941477273HTRA1c.972+21G= (n.972+21G=)
c.654+21G= (n.654+21G=)
c.195+21G= (n.195+21G=)
10g.122506906G>TCA660910866HTRA1c.972+21G>T (n.972+21G>T)
c.654+21G>T (n.654+21G>T)
c.195+21G>T (n.195+21G>T)
dbSNP gnomAD v4
10g.122506907G=CA1941477274HTRA1c.972+22G= (n.972+22G=)
c.654+22G= (n.654+22G=)
c.195+22G= (n.195+22G=)
10g.122506907G>TCA214411489HTRA1c.972+22G>T (n.972+22G>T)
c.654+22G>T (n.654+22G>T)
c.195+22G>T (n.195+22G>T)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10g.122506908G>ACA2611246643HTRA1c.972+23G>A (n.972+23G>A)
c.654+23G>A (n.654+23G>A)
c.195+23G>A (n.195+23G>A)
gnomAD v4
10g.122506908G>TCA2611246644HTRA1c.972+23G>T (n.972+23G>T)
c.654+23G>T (n.654+23G>T)
c.195+23G>T (n.195+23G>T)
gnomAD v4
10g.122506909T>CCA5725986HTRA1c.972+24T>C (n.972+24T>C)
c.654+24T>C (n.654+24T>C)
c.195+24T>C (n.195+24T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506909T=CA1941477275HTRA1c.972+24T= (n.972+24T=)
c.654+24T= (n.654+24T=)
c.195+24T= (n.195+24T=)
10g.122506910G>TCA2611246645HTRA1c.972+25G>T (n.972+25G>T)
c.654+25G>T (n.654+25G>T)
c.195+25G>T (n.195+25G>T)
gnomAD v4
10g.122506912G>ACA2611246646HTRA1c.972+27G>A (n.972+27G>A)
c.654+27G>A (n.654+27G>A)
c.195+27G>A (n.195+27G>A)
gnomAD v4
10g.122506913G>ACA2574697802HTRA1c.972+28G>A (n.972+28G>A)
c.654+28G>A (n.654+28G>A)
c.195+28G>A (n.195+28G>A)
10g.122506914A>TCA2574697803HTRA1c.972+29A>T (n.972+29A>T)
c.654+29A>T (n.654+29A>T)
c.195+29A>T (n.195+29A>T)
10g.122506915T>CCA5725987HTRA1c.972+30T>C (n.972+30T>C)
c.654+30T>C (n.654+30T>C)
c.195+30T>C (n.195+30T>C)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506915T=CA1941477276HTRA1c.972+30T= (n.972+30T=)
c.654+30T= (n.654+30T=)
c.195+30T= (n.195+30T=)
10g.122506916delCA2611246647HTRA1c.972+31del (n.972+31del)
c.654+31del (n.654+31del)
c.195+31del (n.195+31del)
gnomAD v4
10g.122506916_122506917delinsTGCA1941477277HTRA1c.972+31_972+32delinsTG (n.972+31_972+32delinsTG)
c.654+31_654+32delinsTG (n.654+31_654+32delinsTG)
c.195+31_195+32delinsTG (n.195+31_195+32delinsTG)
10g.122506917G>ACA2611246648HTRA1c.972+32G>A (n.972+32G>A)
c.654+32G>A (n.654+32G>A)
c.195+32G>A (n.195+32G>A)
gnomAD v4
10g.122506917G>TCA2611246649HTRA1c.972+32G>T (n.972+32G>T)
c.654+32G>T (n.654+32G>T)
c.195+32G>T (n.195+32G>T)
gnomAD v4
10g.122506920delCA5725988HTRA1c.972+35del (n.972+35del)
c.654+35del (n.654+35del)
c.195+35del (n.195+35del)
dbSNP ExAC gnomAD v2
10g.122506919G>CCA2574697804HTRA1c.972+34G>C (n.972+34G>C)
c.654+34G>C (n.654+34G>C)
c.195+34G>C (n.195+34G>C)
10g.122506919G>TCA2611246650HTRA1c.972+34G>T (n.972+34G>T)
c.654+34G>T (n.654+34G>T)
c.195+34G>T (n.195+34G>T)
gnomAD v4
10g.122506920G>ACA5725989HTRA1c.972+35G>A (n.972+35G>A)
c.654+35G>A (n.654+35G>A)
c.195+35G>A (n.195+35G>A)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
10g.122506920G=CA1941477278HTRA1c.972+35G= (n.972+35G=)
c.654+35G= (n.654+35G=)
c.195+35G= (n.195+35G=)
10g.122506920G>TCA2611246651HTRA1c.972+35G>T (n.972+35G>T)
c.654+35G>T (n.654+35G>T)
c.195+35G>T (n.195+35G>T)
gnomAD v4
10g.122506921C>ACA2574697805HTRA1c.972+36C>A (n.972+36C>A)
c.654+36C>A (n.654+36C>A)
c.195+36C>A (n.195+36C>A)
gnomAD v4
10g.122506921C>GCA2611246652HTRA1c.972+36C>G (n.972+36C>G)
c.654+36C>G (n.654+36C>G)
c.195+36C>G (n.195+36C>G)
gnomAD v4
10g.122506921C>TCA2789768183HTRA1c.972+36C>T (n.972+36C>T)
c.654+36C>T (n.654+36C>T)
c.195+36C>T (n.195+36C>T)
10g.122506923G>TCA2611246653HTRA1c.972+38G>T (n.972+38G>T)
c.654+38G>T (n.654+38G>T)
c.195+38G>T (n.195+38G>T)
gnomAD v4
10g.122506924A>GCA2722882019HTRA1c.972+39A>G (n.972+39A>G)
c.654+39A>G (n.654+39A>G)
c.195+39A>G (n.195+39A>G)
dbSNP
10g.122506925G>ACA2611246654HTRA1c.972+40G>A (n.972+40G>A)
c.654+40G>A (n.654+40G>A)
c.195+40G>A (n.195+40G>A)
gnomAD v4
10g.122506925G>TCA2611246655HTRA1c.972+40G>T (n.972+40G>T)
c.654+40G>T (n.654+40G>T)
c.195+40G>T (n.195+40G>T)
gnomAD v4
10g.122506929delCA2611246656HTRA1c.972+44del (n.972+44del)
c.654+44del (n.654+44del)
c.195+44del (n.195+44del)
gnomAD v4

Number of alleles fetched