Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506820G>A | CA5725963 | HTRA1 | c.907G>A (p.Gly303Ser) c.589G>A (p.Gly197Ser) c.130G>A (p.Gly44Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506820G>C | CA378585738 | HTRA1 | c.907G>C (p.Gly303Arg) c.589G>C (p.Gly197Arg) c.130G>C (p.Gly44Arg) | gnomAD v4 |
10 | g.122506820G= | CA1941477241 | HTRA1 | c.907G= (p.Gly303=) c.589G= (p.Gly197=) c.130G= (p.Gly44=) | |
10 | g.122506820G>T | CA378585740 | HTRA1 | c.907G>T (p.Gly303Cys) c.589G>T (p.Gly197Cys) c.130G>T (p.Gly44Cys) | |
10 | g.122506821G>A | CA378585743 | HTRA1 | c.908G>A (p.Gly303Asp) c.590G>A (p.Gly197Asp) c.131G>A (p.Gly44Asp) | |
10 | g.122506821G>C | CA378585742 | HTRA1 | c.908G>C (p.Gly303Ala) c.590G>C (p.Gly197Ala) c.131G>C (p.Gly44Ala) | |
10 | g.122506821G>T | CA378585741 | HTRA1 | c.908G>T (p.Gly303Val) c.590G>T (p.Gly197Val) c.131G>T (p.Gly44Val) | |
10 | g.122506822C>A | CA471666948 | HTRA1 | c.909C>A (p.Gly303=) c.591C>A (p.Gly197=) c.132C>A (p.Gly44=) | |
10 | g.122506822C= | CA1941477242 | HTRA1 | c.909C= (p.Gly303=) c.591C= (p.Gly197=) c.132C= (p.Gly44=) | |
10 | g.122506822C>G | CA471666949 | HTRA1 | c.909C>G (p.Gly303=) c.591C>G (p.Gly197=) c.132C>G (p.Gly44=) | |
10 | g.122506822C>T | CA5725964 | HTRA1 | c.909C>T (p.Gly303=) c.591C>T (p.Gly197=) c.132C>T (p.Gly44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>A | CA378585744 | HTRA1 | c.910G>A (p.Gly304Ser) c.592G>A (p.Gly198Ser) c.133G>A (p.Gly45Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506823G>C | CA378585745 | HTRA1 | c.910G>C (p.Gly304Arg) c.592G>C (p.Gly198Arg) c.133G>C (p.Gly45Arg) | ClinVar |
10 | g.122506823G= | CA1941477243 | HTRA1 | c.910G= (p.Gly304=) c.592G= (p.Gly198=) c.133G= (p.Gly45=) | |
10 | g.122506823G>T | CA378585746 | HTRA1 | c.910G>T (p.Gly304Cys) c.592G>T (p.Gly198Cys) c.133G>T (p.Gly45Cys) | |
10 | g.122506824G>A | CA378585747 | HTRA1 | c.911G>A (p.Gly304Asp) c.593G>A (p.Gly198Asp) c.134G>A (p.Gly45Asp) | COSMIC |
10 | g.122506824G>C | CA378585748 | HTRA1 | c.911G>C (p.Gly304Ala) c.593G>C (p.Gly198Ala) c.134G>C (p.Gly45Ala) | |
10 | g.122506824G>T | CA378585749 | HTRA1 | c.911G>T (p.Gly304Val) c.593G>T (p.Gly198Val) c.134G>T (p.Gly45Val) | |
10 | g.122506825C>A | CA471666955 | HTRA1 | c.912C>A (p.Gly304=) c.594C>A (p.Gly198=) c.135C>A (p.Gly45=) | |
10 | g.122506825C>G | CA471666954 | HTRA1 | c.912C>G (p.Gly304=) c.594C>G (p.Gly198=) c.135C>G (p.Gly45=) | |
10 | g.122506825C>T | CA471666953 | HTRA1 | c.912C>T (p.Gly304=) c.594C>T (p.Gly198=) c.135C>T (p.Gly45=) | |
10 | g.122506826A>C | CA378585750 | HTRA1 | c.913A>C (p.Lys305Gln) c.595A>C (p.Lys199Gln) c.136A>C (p.Lys46Gln) | |
10 | g.122506826A>G | CA378585751 | HTRA1 | c.913A>G (p.Lys305Glu) c.595A>G (p.Lys199Glu) c.136A>G (p.Lys46Glu) | gnomAD v4 |
10 | g.122506826A>T | CA378585752 | HTRA1 | c.913A>T (p.Lys305Ter) c.595A>T (p.Lys199Ter) c.136A>T (p.Lys46Ter) | |
10 | g.122506827A>C | CA378585753 | HTRA1 | c.914A>C (p.Lys305Thr) c.596A>C (p.Lys199Thr) c.137A>C (p.Lys46Thr) | gnomAD v4 |
10 | g.122506827A>G | CA378585754 | HTRA1 | c.914A>G (p.Lys305Arg) c.596A>G (p.Lys199Arg) c.137A>G (p.Lys46Arg) | |
10 | g.122506827A>T | CA378585755 | HTRA1 | c.914A>T (p.Lys305Ile) c.596A>T (p.Lys199Ile) c.137A>T (p.Lys46Ile) | |
10 | g.122506828A>C | CA378585756 | HTRA1 | c.915A>C (p.Lys305Asn) c.597A>C (p.Lys199Asn) c.138A>C (p.Lys46Asn) | |
10 | g.122506828A>G | CA471666956 | HTRA1 | c.915A>G (p.Lys305=) c.597A>G (p.Lys199=) c.138A>G (p.Lys46=) | gnomAD v4 |
10 | g.122506828A>T | CA378585757 | HTRA1 | c.915A>T (p.Lys305Asn) c.597A>T (p.Lys199Asn) c.138A>T (p.Lys46Asn) | |
10 | g.122506829G>A | CA378585759 | HTRA1 | c.916G>A (p.Glu306Lys) c.598G>A (p.Glu200Lys) c.139G>A (p.Glu47Lys) | gnomAD v4 |
10 | g.122506829G>C | CA378585760 | HTRA1 | c.916G>C (p.Glu306Gln) c.598G>C (p.Glu200Gln) c.139G>C (p.Glu47Gln) | |
10 | g.122506829G>T | CA378585758 | HTRA1 | c.916G>T (p.Glu306Ter) c.598G>T (p.Glu200Ter) c.139G>T (p.Glu47Ter) | |
10 | g.122506830A>C | CA378585761 | HTRA1 | c.917A>C (p.Glu306Ala) c.599A>C (p.Glu200Ala) c.140A>C (p.Glu47Ala) | |
10 | g.122506830A>G | CA378585762 | HTRA1 | c.917A>G (p.Glu306Gly) c.599A>G (p.Glu200Gly) c.140A>G (p.Glu47Gly) | |
10 | g.122506830A>T | CA378585763 | HTRA1 | c.917A>T (p.Glu306Val) c.599A>T (p.Glu200Val) c.140A>T (p.Glu47Val) | |
10 | g.122506831G>A | CA471666957 | HTRA1 | c.918G>A (p.Glu306=) c.600G>A (p.Glu200=) c.141G>A (p.Glu47=) | gnomAD v4 |
10 | g.122506831G>C | CA378585764 | HTRA1 | c.918G>C (p.Glu306Asp) c.600G>C (p.Glu200Asp) c.141G>C (p.Glu47Asp) | |
10 | g.122506831G>T | CA378585765 | HTRA1 | c.918G>T (p.Glu306Asp) c.600G>T (p.Glu200Asp) c.141G>T (p.Glu47Asp) | COSMIC |
10 | g.122506832C>A | CA378585766 | HTRA1 | c.919C>A (p.Leu307Met) c.601C>A (p.Leu201Met) c.142C>A (p.Leu48Met) | |
10 | g.122506832C>G | CA378585767 | HTRA1 | c.919C>G (p.Leu307Val) c.601C>G (p.Leu201Val) c.142C>G (p.Leu48Val) | |
10 | g.122506832C>T | CA471666958 | HTRA1 | c.919C>T (p.Leu307=) c.601C>T (p.Leu201=) c.142C>T (p.Leu48=) | gnomAD v4 |
10 | g.122506833T>A | CA378585768 | HTRA1 | c.920T>A (p.Leu307Gln) c.602T>A (p.Leu201Gln) c.143T>A (p.Leu48Gln) | |
10 | g.122506833T>C | CA378585769 | HTRA1 | c.920T>C (p.Leu307Pro) c.602T>C (p.Leu201Pro) c.143T>C (p.Leu48Pro) | |
10 | g.122506833T>G | CA378585770 | HTRA1 | c.920T>G (p.Leu307Arg) c.602T>G (p.Leu201Arg) c.143T>G (p.Leu48Arg) | |
10 | g.122506834G>A | CA471666959 | HTRA1 | c.921G>A (p.Leu307=) c.603G>A (p.Leu201=) c.144G>A (p.Leu48=) | |
10 | g.122506834G>C | CA471666960 | HTRA1 | c.921G>C (p.Leu307=) c.603G>C (p.Leu201=) c.144G>C (p.Leu48=) | |
10 | g.122506834G>T | CA471666961 | HTRA1 | c.921G>T (p.Leu307=) c.603G>T (p.Leu201=) c.144G>T (p.Leu48=) | |
10 | g.122506835G>A | CA378585771 | HTRA1 | c.922G>A (p.Gly308Arg) c.604G>A (p.Gly202Arg) c.145G>A (p.Gly49Arg) | dbSNP gnomAD v4 |
10 | g.122506835G>C | CA378585772 | HTRA1 | c.922G>C (p.Gly308Arg) c.604G>C (p.Gly202Arg) c.145G>C (p.Gly49Arg) | |
10 | g.122506835G= | CA1941477244 | HTRA1 | c.922G= (p.Gly308=) c.604G= (p.Gly202=) c.145G= (p.Gly49=) | |
10 | g.122506835G>T | CA378585773 | HTRA1 | c.922G>T (p.Gly308Trp) c.604G>T (p.Gly202Trp) c.145G>T (p.Gly49Trp) | gnomAD v4 |
10 | g.122506836G>A | CA378585776 | HTRA1 | c.923G>A (p.Gly308Glu) c.605G>A (p.Gly202Glu) c.146G>A (p.Gly49Glu) | dbSNP |
10 | g.122506836G>C | CA378585774 | HTRA1 | c.923G>C (p.Gly308Ala) c.605G>C (p.Gly202Ala) c.146G>C (p.Gly49Ala) | |
10 | g.122506836G= | CA1941477245 | HTRA1 | c.923G= (p.Gly308=) c.605G= (p.Gly202=) c.146G= (p.Gly49=) | |
10 | g.122506836G>T | CA378585775 | HTRA1 | c.923G>T (p.Gly308Val) c.605G>T (p.Gly202Val) c.146G>T (p.Gly49Val) | |
10 | g.122506837G>A | CA471666963 | HTRA1 | c.924G>A (p.Gly308=) c.606G>A (p.Gly202=) c.147G>A (p.Gly49=) | |
10 | g.122506837G>C | CA471666964 | HTRA1 | c.924G>C (p.Gly308=) c.606G>C (p.Gly202=) c.147G>C (p.Gly49=) | |
10 | g.122506837G>T | CA471666965 | HTRA1 | c.924G>T (p.Gly308=) c.606G>T (p.Gly202=) c.147G>T (p.Gly49=) | gnomAD v4 |
10 | g.122506838C>A | CA378585777 | HTRA1 | c.925C>A (p.Leu309Ile) c.607C>A (p.Leu203Ile) c.148C>A (p.Leu50Ile) | |
10 | g.122506838C= | CA1941477246 | HTRA1 | c.925C= (p.Leu309=) c.607C= (p.Leu203=) c.148C= (p.Leu50=) | |
10 | g.122506838C>G | CA378585778 | HTRA1 | c.925C>G (p.Leu309Val) c.607C>G (p.Leu203Val) c.148C>G (p.Leu50Val) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506838C>T | CA214411405 | HTRA1 | c.925C>T (p.Leu309Phe) c.607C>T (p.Leu203Phe) c.148C>T (p.Leu50Phe) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506839T>A | CA378585779 | HTRA1 | c.926T>A (p.Leu309His) c.608T>A (p.Leu203His) c.149T>A (p.Leu50His) | |
10 | g.122506839T>C | CA378585780 | HTRA1 | c.926T>C (p.Leu309Pro) c.608T>C (p.Leu203Pro) c.149T>C (p.Leu50Pro) | dbSNP |
10 | g.122506839T>G | CA378585781 | HTRA1 | c.926T>G (p.Leu309Arg) c.608T>G (p.Leu203Arg) c.149T>G (p.Leu50Arg) | |
10 | g.122506839T= | CA1941477247 | HTRA1 | c.926T= (p.Leu309=) c.608T= (p.Leu203=) c.149T= (p.Leu50=) | |
10 | g.122506840C>A | CA471666966 | HTRA1 | c.927C>A (p.Leu309=) c.609C>A (p.Leu203=) c.150C>A (p.Leu50=) | |
10 | g.122506840C>G | CA471666967 | HTRA1 | c.927C>G (p.Leu309=) c.609C>G (p.Leu203=) c.150C>G (p.Leu50=) | |
10 | g.122506840C>T | CA471666968 | HTRA1 | c.927C>T (p.Leu309=) c.609C>T (p.Leu203=) c.150C>T (p.Leu50=) | COSMIC |
10 | g.122506841C>A | CA378585782 | HTRA1 | c.928C>A (p.Arg310Ser) c.610C>A (p.Arg204Ser) c.151C>A (p.Arg51Ser) | |
10 | g.122506841C= | CA1941477248 | HTRA1 | c.928C= (p.Arg310=) c.610C= (p.Arg204=) c.151C= (p.Arg51=) | |
10 | g.122506841C>G | CA5725966 | HTRA1 | c.928C>G (p.Arg310Gly) c.610C>G (p.Arg204Gly) c.151C>G (p.Arg51Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506841C>T | CA5725965 | HTRA1 | c.928C>T (p.Arg310Cys) c.610C>T (p.Arg204Cys) c.151C>T (p.Arg51Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506842G>A | CA5725967 | HTRA1 | c.929G>A (p.Arg310His) c.611G>A (p.Arg204His) c.152G>A (p.Arg51His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506842G>C | CA378585783 | HTRA1 | c.929G>C (p.Arg310Pro) c.611G>C (p.Arg204Pro) c.152G>C (p.Arg51Pro) | |
10 | g.122506842G= | CA1941477249 | HTRA1 | c.929G= (p.Arg310=) c.611G= (p.Arg204=) c.152G= (p.Arg51=) | |
10 | g.122506842G>T | CA378585784 | HTRA1 | c.929G>T (p.Arg310Leu) c.611G>T (p.Arg204Leu) c.152G>T (p.Arg51Leu) | |
10 | g.122506843C>A | CA471666970 | HTRA1 | c.930C>A (p.Arg310=) c.612C>A (p.Arg204=) c.153C>A (p.Arg51=) | |
10 | g.122506843C>G | CA471666971 | HTRA1 | c.930C>G (p.Arg310=) c.612C>G (p.Arg204=) c.153C>G (p.Arg51=) | gnomAD v4 |
10 | g.122506843C>T | CA471666972 | HTRA1 | c.930C>T (p.Arg310=) c.612C>T (p.Arg204=) c.153C>T (p.Arg51=) | |
10 | g.122506844A>C | CA378585785 | HTRA1 | c.931A>C (p.Asn311His) c.613A>C (p.Asn205His) c.154A>C (p.Asn52His) | |
10 | g.122506844A>G | CA378585787 | HTRA1 | c.931A>G (p.Asn311Asp) c.613A>G (p.Asn205Asp) c.154A>G (p.Asn52Asp) | |
10 | g.122506844A>T | CA378585786 | HTRA1 | c.931A>T (p.Asn311Tyr) c.613A>T (p.Asn205Tyr) c.154A>T (p.Asn52Tyr) | |
10 | g.122506845A>C | CA378585788 | HTRA1 | c.932A>C (p.Asn311Thr) c.614A>C (p.Asn205Thr) c.155A>C (p.Asn52Thr) | |
10 | g.122506845A>G | CA378585789 | HTRA1 | c.932A>G (p.Asn311Ser) c.614A>G (p.Asn205Ser) c.155A>G (p.Asn52Ser) | |
10 | g.122506845A>T | CA378585790 | HTRA1 | c.932A>T (p.Asn311Ile) c.614A>T (p.Asn205Ile) c.155A>T (p.Asn52Ile) | |
10 | g.122506846C>A | CA378585791 | HTRA1 | c.933C>A (p.Asn311Lys) c.615C>A (p.Asn205Lys) c.156C>A (p.Asn52Lys) | |
10 | g.122506846C>G | CA378585792 | HTRA1 | c.933C>G (p.Asn311Lys) c.615C>G (p.Asn205Lys) c.156C>G (p.Asn52Lys) | |
10 | g.122506846C>T | CA471666973 | HTRA1 | c.933C>T (p.Asn311=) c.615C>T (p.Asn205=) c.156C>T (p.Asn52=) | |
10 | g.122506847T>A | CA378585793 | HTRA1 | c.934T>A (p.Ser312Thr) c.616T>A (p.Ser206Thr) c.157T>A (p.Ser53Thr) | |
10 | g.122506847T>C | CA378585794 | HTRA1 | c.934T>C (p.Ser312Pro) c.616T>C (p.Ser206Pro) c.157T>C (p.Ser53Pro) | |
10 | g.122506847T>G | CA378585795 | HTRA1 | c.934T>G (p.Ser312Ala) c.616T>G (p.Ser206Ala) c.157T>G (p.Ser53Ala) | |
10 | g.122506848C>A | CA378585796 | HTRA1 | c.935C>A (p.Ser312Ter) c.617C>A (p.Ser206Ter) c.158C>A (p.Ser53Ter) | |
10 | g.122506848C= | CA1941477250 | HTRA1 | c.935C= (p.Ser312=) c.617C= (p.Ser206=) c.158C= (p.Ser53=) | |
10 | g.122506848C>G | CA5725968 | HTRA1 | c.935C>G (p.Ser312Ter) c.617C>G (p.Ser206Ter) c.158C>G (p.Ser53Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506848C>T | CA378585797 | HTRA1 | c.935C>T (p.Ser312Leu) c.617C>T (p.Ser206Leu) c.158C>T (p.Ser53Leu) | |
10 | g.122506849A= | CA1941477251 | HTRA1 | c.936A= (p.Ser312=) c.618A= (p.Ser206=) c.159A= (p.Ser53=) | |
10 | g.122506849A>C | CA5725970 | HTRA1 | c.936A>C (p.Ser312=) c.618A>C (p.Ser206=) c.159A>C (p.Ser53=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506849A>G | CA5725969 | HTRA1 | c.936A>G (p.Ser312=) c.618A>G (p.Ser206=) c.159A>G (p.Ser53=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506849A>T | CA471666974 | HTRA1 | c.936A>T (p.Ser312=) c.618A>T (p.Ser206=) c.159A>T (p.Ser53=) | |
10 | g.122506850G>A | CA378585800 | HTRA1 | c.937G>A (p.Asp313Asn) c.619G>A (p.Asp207Asn) c.160G>A (p.Asp54Asn) | |
10 | g.122506850G>C | CA378585799 | HTRA1 | c.937G>C (p.Asp313His) c.619G>C (p.Asp207His) c.160G>C (p.Asp54His) | |
10 | g.122506850G>T | CA378585798 | HTRA1 | c.937G>T (p.Asp313Tyr) c.619G>T (p.Asp207Tyr) c.160G>T (p.Asp54Tyr) | |
10 | g.122506851A>C | CA378585801 | HTRA1 | c.938A>C (p.Asp313Ala) c.620A>C (p.Asp207Ala) c.161A>C (p.Asp54Ala) | |
10 | g.122506851A>G | CA378585802 | HTRA1 | c.938A>G (p.Asp313Gly) c.620A>G (p.Asp207Gly) c.161A>G (p.Asp54Gly) | |
10 | g.122506851A>T | CA378585803 | HTRA1 | c.938A>T (p.Asp313Val) c.620A>T (p.Asp207Val) c.161A>T (p.Asp54Val) | |
10 | g.122506852C>A | CA378585804 | HTRA1 | c.939C>A (p.Asp313Glu) c.621C>A (p.Asp207Glu) c.162C>A (p.Asp54Glu) | |
10 | g.122506852C>G | CA378585805 | HTRA1 | c.939C>G (p.Asp313Glu) c.621C>G (p.Asp207Glu) c.162C>G (p.Asp54Glu) | |
10 | g.122506852C>T | CA471666975 | HTRA1 | c.939C>T (p.Asp313=) c.621C>T (p.Asp207=) c.162C>T (p.Asp54=) | |
10 | g.122506853A= | CA1941477252 | HTRA1 | c.940A= (p.Met314=) c.622A= (p.Met208=) c.163A= (p.Met55=) | |
10 | g.122506853A>C | CA378585806 | HTRA1 | c.940A>C (p.Met314Leu) c.622A>C (p.Met208Leu) c.163A>C (p.Met55Leu) | |
10 | g.122506853A>G | CA5725971 | HTRA1 | c.940A>G (p.Met314Val) c.622A>G (p.Met208Val) c.163A>G (p.Met55Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506853A>T | CA378585807 | HTRA1 | c.940A>T (p.Met314Leu) c.622A>T (p.Met208Leu) c.163A>T (p.Met55Leu) | |
10 | g.122506854T>A | CA378585808 | HTRA1 | c.941T>A (p.Met314Lys) c.623T>A (p.Met208Lys) c.164T>A (p.Met55Lys) | |
10 | g.122506854T>C | CA5725972 | HTRA1 | c.941T>C (p.Met314Thr) c.623T>C (p.Met208Thr) c.164T>C (p.Met55Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506854T>G | CA378585809 | HTRA1 | c.941T>G (p.Met314Arg) c.623T>G (p.Met208Arg) c.164T>G (p.Met55Arg) | |
10 | g.122506854T= | CA1941477253 | HTRA1 | c.941T= (p.Met314=) c.623T= (p.Met208=) c.164T= (p.Met55=) | |
10 | g.122506855G>A | CA378585810 | HTRA1 | c.942G>A (p.Met314Ile) c.624G>A (p.Met208Ile) c.165G>A (p.Met55Ile) | |
10 | g.122506855G>C | CA378585811 | HTRA1 | c.942G>C (p.Met314Ile) c.624G>C (p.Met208Ile) c.165G>C (p.Met55Ile) | |
10 | g.122506855G>T | CA378585812 | HTRA1 | c.942G>T (p.Met314Ile) c.624G>T (p.Met208Ile) c.165G>T (p.Met55Ile) | |
10 | g.122506856G>A | CA378585814 | HTRA1 | c.943G>A (p.Asp315Asn) c.625G>A (p.Asp209Asn) c.166G>A (p.Asp56Asn) | |
10 | g.122506856G>C | CA378585815 | HTRA1 | c.943G>C (p.Asp315His) c.625G>C (p.Asp209His) c.166G>C (p.Asp56His) | |
10 | g.122506856G>T | CA378585813 | HTRA1 | c.943G>T (p.Asp315Tyr) c.625G>T (p.Asp209Tyr) c.166G>T (p.Asp56Tyr) | |
10 | g.122506857A>C | CA378585816 | HTRA1 | c.944A>C (p.Asp315Ala) c.626A>C (p.Asp209Ala) c.167A>C (p.Asp56Ala) | |
10 | g.122506857A>G | CA378585817 | HTRA1 | c.944A>G (p.Asp315Gly) c.626A>G (p.Asp209Gly) c.167A>G (p.Asp56Gly) | |
10 | g.122506857A>T | CA378585818 | HTRA1 | c.944A>T (p.Asp315Val) c.626A>T (p.Asp209Val) c.167A>T (p.Asp56Val) | |
10 | g.122506858C>A | CA378585820 | HTRA1 | c.945C>A (p.Asp315Glu) c.627C>A (p.Asp209Glu) c.168C>A (p.Asp56Glu) | |
10 | g.122506858C>G | CA378585821 | HTRA1 | c.945C>G (p.Asp315Glu) c.627C>G (p.Asp209Glu) c.168C>G (p.Asp56Glu) | |
10 | g.122506858C>T | CA471666976 | HTRA1 | c.945C>T (p.Asp315=) c.627C>T (p.Asp209=) c.168C>T (p.Asp56=) | |
10 | g.122506859T>A | CA378585822 | HTRA1 | c.946T>A (p.Tyr316Asn) c.628T>A (p.Tyr210Asn) c.169T>A (p.Tyr57Asn) | |
10 | g.122506859T>C | CA378585823 | HTRA1 | c.946T>C (p.Tyr316His) c.628T>C (p.Tyr210His) c.169T>C (p.Tyr57His) | |
10 | g.122506859T>G | CA378585824 | HTRA1 | c.946T>G (p.Tyr316Asp) c.628T>G (p.Tyr210Asp) c.169T>G (p.Tyr57Asp) | |
10 | g.122506860A>C | CA378585825 | HTRA1 | c.947A>C (p.Tyr316Ser) c.629A>C (p.Tyr210Ser) c.170A>C (p.Tyr57Ser) | |
10 | g.122506860A>G | CA378585826 | HTRA1 | c.947A>G (p.Tyr316Cys) c.629A>G (p.Tyr210Cys) c.170A>G (p.Tyr57Cys) | |
10 | g.122506860A>T | CA378585827 | HTRA1 | c.947A>T (p.Tyr316Phe) c.629A>T (p.Tyr210Phe) c.170A>T (p.Tyr57Phe) | |
10 | g.122506861C>A | CA378585828 | HTRA1 | c.948C>A (p.Tyr316Ter) c.630C>A (p.Tyr210Ter) c.171C>A (p.Tyr57Ter) | |
10 | g.122506861C= | CA1941477254 | HTRA1 | c.948C= (p.Tyr316=) c.630C= (p.Tyr210=) c.171C= (p.Tyr57=) | |
10 | g.122506861C>G | CA378585829 | HTRA1 | c.948C>G (p.Tyr316Ter) c.630C>G (p.Tyr210Ter) c.171C>G (p.Tyr57Ter) | |
10 | g.122506861C>T | CA471666977 | HTRA1 | c.948C>T (p.Tyr316=) c.630C>T (p.Tyr210=) c.171C>T (p.Tyr57=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506862A>C | CA378585830 | HTRA1 | c.949A>C (p.Ile317Leu) c.631A>C (p.Ile211Leu) c.172A>C (p.Ile58Leu) | |
10 | g.122506862A>G | CA378585832 | HTRA1 | c.949A>G (p.Ile317Val) c.631A>G (p.Ile211Val) c.172A>G (p.Ile58Val) | |
10 | g.122506862A>T | CA378585831 | HTRA1 | c.949A>T (p.Ile317Phe) c.631A>T (p.Ile211Phe) c.172A>T (p.Ile58Phe) | |
10 | g.122506863T>A | CA378585833 | HTRA1 | c.950T>A (p.Ile317Asn) c.632T>A (p.Ile211Asn) c.173T>A (p.Ile58Asn) | |
10 | g.122506863T>C | CA378585834 | HTRA1 | c.950T>C (p.Ile317Thr) c.632T>C (p.Ile211Thr) c.173T>C (p.Ile58Thr) | |
10 | g.122506863T>G | CA378585835 | HTRA1 | c.950T>G (p.Ile317Ser) c.632T>G (p.Ile211Ser) c.173T>G (p.Ile58Ser) | |
10 | g.122506864C>A | CA5725973 | HTRA1 | c.951C>A (p.Ile317=) c.633C>A (p.Ile211=) c.174C>A (p.Ile58=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506864C= | CA1941477255 | HTRA1 | c.951C= (p.Ile317=) c.633C= (p.Ile211=) c.174C= (p.Ile58=) | |
10 | g.122506864C>G | CA378585836 | HTRA1 | c.951C>G (p.Ile317Met) c.633C>G (p.Ile211Met) c.174C>G (p.Ile58Met) | |
10 | g.122506864C>T | CA471666978 | HTRA1 | c.951C>T (p.Ile317=) c.633C>T (p.Ile211=) c.174C>T (p.Ile58=) | gnomAD v4 COSMIC |
10 | g.122506865C>A | CA378585837 | HTRA1 | c.952C>A (p.Gln318Lys) c.634C>A (p.Gln212Lys) c.175C>A (p.Gln59Lys) | |
10 | g.122506865C>G | CA378585838 | HTRA1 | c.952C>G (p.Gln318Glu) c.634C>G (p.Gln212Glu) c.175C>G (p.Gln59Glu) | |
10 | g.122506865C>T | CA378585839 | HTRA1 | c.952C>T (p.Gln318Ter) c.634C>T (p.Gln212Ter) c.175C>T (p.Gln59Ter) | |
10 | g.122506866A>C | CA378585840 | HTRA1 | c.953A>C (p.Gln318Pro) c.635A>C (p.Gln212Pro) c.176A>C (p.Gln59Pro) | |
10 | g.122506866A>G | CA378585841 | HTRA1 | c.953A>G (p.Gln318Arg) c.635A>G (p.Gln212Arg) c.176A>G (p.Gln59Arg) | |
10 | g.122506866A>T | CA378585842 | HTRA1 | c.953A>T (p.Gln318Leu) c.635A>T (p.Gln212Leu) c.176A>T (p.Gln59Leu) | |
10 | g.122506867G>A | CA471666979 | HTRA1 | c.954G>A (p.Gln318=) c.636G>A (p.Gln212=) c.177G>A (p.Gln59=) | dbSNP gnomAD v3 gnomAD v4 |
10 | g.122506867G>C | CA378585843 | HTRA1 | c.954G>C (p.Gln318His) c.636G>C (p.Gln212His) c.177G>C (p.Gln59His) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506867G= | CA1941477256 | HTRA1 | c.954G= (p.Gln318=) c.636G= (p.Gln212=) c.177G= (p.Gln59=) | |
10 | g.122506867G>T | CA378585844 | HTRA1 | c.954G>T (p.Gln318His) c.636G>T (p.Gln212His) c.177G>T (p.Gln59His) | |
10 | g.122506868A>C | CA378585845 | HTRA1 | c.955A>C (p.Thr319Pro) c.637A>C (p.Thr213Pro) c.178A>C (p.Thr60Pro) | |
10 | g.122506868A>G | CA378585847 | HTRA1 | c.955A>G (p.Thr319Ala) c.637A>G (p.Thr213Ala) c.178A>G (p.Thr60Ala) | |
10 | g.122506868A>T | CA378585846 | HTRA1 | c.955A>T (p.Thr319Ser) c.637A>T (p.Thr213Ser) c.178A>T (p.Thr60Ser) | |
10 | g.122506869C>A | CA378585848 | HTRA1 | c.956C>A (p.Thr319Asn) c.638C>A (p.Thr213Asn) c.179C>A (p.Thr60Asn) | |
10 | g.122506869C>G | CA378585850 | HTRA1 | c.956C>G (p.Thr319Ser) c.638C>G (p.Thr213Ser) c.179C>G (p.Thr60Ser) | |
10 | g.122506869C>T | CA378585849 | HTRA1 | c.956C>T (p.Thr319Ile) c.638C>T (p.Thr213Ile) c.179C>T (p.Thr60Ile) | |
10 | g.122506870dup | CA2842616628 | HTRA1 | c.957dup (p.Asp320ArgfsTer19) c.639dup (p.Asp214ArgfsTer19) c.180dup (p.Asp61ArgfsTer19) | |
10 | g.122506870C>A | CA471666980 | HTRA1 | c.957C>A (p.Thr319=) c.639C>A (p.Thr213=) c.180C>A (p.Thr60=) | dbSNP gnomAD v2 gnomAD v4 |
10 | g.122506870C= | CA1941477257 | HTRA1 | c.957C= (p.Thr319=) c.639C= (p.Thr213=) c.180C= (p.Thr60=) | |
10 | g.122506870C>G | CA5725975 | HTRA1 | c.957C>G (p.Thr319=) c.639C>G (p.Thr213=) c.180C>G (p.Thr60=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506870C>T | CA5725974 | HTRA1 | c.957C>T (p.Thr319=) c.639C>T (p.Thr213=) c.180C>T (p.Thr60=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506871G>A | CA5725976 | HTRA1 | c.958G>A (p.Asp320Asn) c.640G>A (p.Asp214Asn) c.181G>A (p.Asp61Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506871G>C | CA378585851 | HTRA1 | c.958G>C (p.Asp320His) c.640G>C (p.Asp214His) c.181G>C (p.Asp61His) | |
10 | g.122506871G= | CA1941477258 | HTRA1 | c.958G= (p.Asp320=) c.640G= (p.Asp214=) c.181G= (p.Asp61=) | |
10 | g.122506871G>T | CA378585852 | HTRA1 | c.958G>T (p.Asp320Tyr) c.640G>T (p.Asp214Tyr) c.181G>T (p.Asp61Tyr) | |
10 | g.122506872A= | CA1941477259 | HTRA1 | c.959A= (p.Asp320=) c.641A= (p.Asp214=) c.182A= (p.Asp61=) | |
10 | g.122506872A>C | CA378585853 | HTRA1 | c.959A>C (p.Asp320Ala) c.641A>C (p.Asp214Ala) c.182A>C (p.Asp61Ala) | gnomAD v4 |
10 | g.122506872A>G | CA214411438 | HTRA1 | c.959A>G (p.Asp320Gly) c.641A>G (p.Asp214Gly) c.182A>G (p.Asp61Gly) | dbSNP |
10 | g.122506872A>T | CA378585854 | HTRA1 | c.959A>T (p.Asp320Val) c.641A>T (p.Asp214Val) c.182A>T (p.Asp61Val) | |
10 | g.122506873C>A | CA378585856 | HTRA1 | c.960C>A (p.Asp320Glu) c.642C>A (p.Asp214Glu) c.183C>A (p.Asp61Glu) | gnomAD v4 |
10 | g.122506873C= | CA1941477260 | HTRA1 | c.960C= (p.Asp320=) c.642C= (p.Asp214=) c.183C= (p.Asp61=) | |
10 | g.122506873C>G | CA378585855 | HTRA1 | c.960C>G (p.Asp320Glu) c.642C>G (p.Asp214Glu) c.183C>G (p.Asp61Glu) | |
10 | g.122506873C>T | CA5725977 | HTRA1 | c.960C>T (p.Asp320=) c.642C>T (p.Asp214=) c.183C>T (p.Asp61=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506874G>A | CA346794 | HTRA1 | c.961G>A (p.Ala321Thr) c.643G>A (p.Ala215Thr) c.184G>A (p.Ala62Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506874G>C | CA378585857 | HTRA1 | c.961G>C (p.Ala321Pro) c.643G>C (p.Ala215Pro) c.184G>C (p.Ala62Pro) | |
10 | g.122506874G= | CA1941477261 | HTRA1 | c.961G= (p.Ala321=) c.643G= (p.Ala215=) c.184G= (p.Ala62=) | |
10 | g.122506874G>T | CA378585858 | HTRA1 | c.961G>T (p.Ala321Ser) c.643G>T (p.Ala215Ser) c.184G>T (p.Ala62Ser) | |
10 | g.122506875C>A | CA378585859 | HTRA1 | c.962C>A (p.Ala321Asp) c.644C>A (p.Ala215Asp) c.185C>A (p.Ala62Asp) | |
10 | g.122506875C>G | CA378585860 | HTRA1 | c.962C>G (p.Ala321Gly) c.644C>G (p.Ala215Gly) c.185C>G (p.Ala62Gly) | gnomAD v4 |
10 | g.122506875C>T | CA378585861 | HTRA1 | c.962C>T (p.Ala321Val) c.644C>T (p.Ala215Val) c.185C>T (p.Ala62Val) | |
10 | g.122506876C>A | CA471666983 | HTRA1 | c.963C>A (p.Ala321=) c.645C>A (p.Ala215=) c.186C>A (p.Ala62=) | |
10 | g.122506876C= | CA1941477262 | HTRA1 | c.963C= (p.Ala321=) c.645C= (p.Ala215=) c.186C= (p.Ala62=) | |
10 | g.122506876C>G | CA471666981 | HTRA1 | c.963C>G (p.Ala321=) c.645C>G (p.Ala215=) c.186C>G (p.Ala62=) | |
10 | g.122506876C>T | CA471666982 | HTRA1 | c.963C>T (p.Ala321=) c.645C>T (p.Ala215=) c.186C>T (p.Ala62=) | dbSNP |
10 | g.122506877A>C | CA378585862 | HTRA1 | c.964A>C (p.Ile322Leu) c.646A>C (p.Ile216Leu) c.187A>C (p.Ile63Leu) | |
10 | g.122506877A>G | CA378585864 | HTRA1 | c.964A>G (p.Ile322Val) c.646A>G (p.Ile216Val) c.187A>G (p.Ile63Val) | |
10 | g.122506877A>T | CA378585863 | HTRA1 | c.964A>T (p.Ile322Phe) c.646A>T (p.Ile216Phe) c.187A>T (p.Ile63Phe) | |
10 | g.122506878T>A | CA378585865 | HTRA1 | c.965T>A (p.Ile322Asn) c.647T>A (p.Ile216Asn) c.188T>A (p.Ile63Asn) | gnomAD v4 |
10 | g.122506878T>C | CA378585866 | HTRA1 | c.965T>C (p.Ile322Thr) c.647T>C (p.Ile216Thr) c.188T>C (p.Ile63Thr) | |
10 | g.122506878T>G | CA378585867 | HTRA1 | c.965T>G (p.Ile322Ser) c.647T>G (p.Ile216Ser) c.188T>G (p.Ile63Ser) | |
10 | g.122506879C>A | CA471666984 | HTRA1 | c.966C>A (p.Ile322=) c.648C>A (p.Ile216=) c.189C>A (p.Ile63=) | |
10 | g.122506879C>G | CA378585868 | HTRA1 | c.966C>G (p.Ile322Met) c.648C>G (p.Ile216Met) c.189C>G (p.Ile63Met) | |
10 | g.122506879C>T | CA471666985 | HTRA1 | c.966C>T (p.Ile322=) c.648C>T (p.Ile216=) c.189C>T (p.Ile63=) | |
10 | g.122506880A>C | CA378585869 | HTRA1 | c.967A>C (p.Ile323Leu) c.649A>C (p.Ile217Leu) c.190A>C (p.Ile64Leu) | |
10 | g.122506880A>G | CA378585870 | HTRA1 | c.967A>G (p.Ile323Val) c.649A>G (p.Ile217Val) c.190A>G (p.Ile64Val) | |
10 | g.122506880A>T | CA378585871 | HTRA1 | c.967A>T (p.Ile323Phe) c.649A>T (p.Ile217Phe) c.190A>T (p.Ile64Phe) | |
10 | g.122506881T>A | CA378585872 | HTRA1 | c.968T>A (p.Ile323Asn) c.650T>A (p.Ile217Asn) c.191T>A (p.Ile64Asn) | |
10 | g.122506881T>C | CA378585873 | HTRA1 | c.968T>C (p.Ile323Thr) c.650T>C (p.Ile217Thr) c.191T>C (p.Ile64Thr) | |
10 | g.122506881T>G | CA378585874 | HTRA1 | c.968T>G (p.Ile323Ser) c.650T>G (p.Ile217Ser) c.191T>G (p.Ile64Ser) | |
10 | g.122506882C>A | CA471666986 | HTRA1 | c.969C>A (p.Ile323=) c.651C>A (p.Ile217=) c.192C>A (p.Ile64=) | gnomAD v4 |
10 | g.122506882C>G | CA378585875 | HTRA1 | c.969C>G (p.Ile323Met) c.651C>G (p.Ile217Met) c.192C>G (p.Ile64Met) | |
10 | g.122506882C>T | CA471666987 | HTRA1 | c.969C>T (p.Ile323=) c.651C>T (p.Ile217=) c.192C>T (p.Ile64=) | |
10 | g.122506883A= | CA1941477263 | HTRA1 | c.970A= (p.Asn324=) c.652A= (p.Asn218=) c.193A= (p.Asn65=) | |
10 | g.122506883A>C | CA378585876 | HTRA1 | c.970A>C (p.Asn324His) c.652A>C (p.Asn218His) c.193A>C (p.Asn65His) | |
10 | g.122506883A>G | CA5725978 | HTRA1 | c.970A>G (p.Asn324Asp) c.652A>G (p.Asn218Asp) c.193A>G (p.Asn65Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
10 | g.122506883A>T | CA378585877 | HTRA1 | c.970A>T (p.Asn324Tyr) c.652A>T (p.Asn218Tyr) c.193A>T (p.Asn65Tyr) | |
10 | g.122506884A= | CA1941477264 | HTRA1 | c.971A= (p.Asn324=) c.653A= (p.Asn218=) c.194A= (p.Asn65=) | |
10 | g.122506884A>C | CA378585878 | HTRA1 | c.971A>C (p.Asn324Thr) c.653A>C (p.Asn218Thr) c.194A>C (p.Asn65Thr) | ClinVar dbSNP |
10 | g.122506884A>G | CA378585879 | HTRA1 | c.971A>G (p.Asn324Ser) c.653A>G (p.Asn218Ser) c.194A>G (p.Asn65Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506884A>T | CA378585880 | HTRA1 | c.971A>T (p.Asn324Ile) c.653A>T (p.Asn218Ile) c.194A>T (p.Asn65Ile) | gnomAD v4 |
10 | g.122506885C>A | CA378585881 | HTRA1 | c.972C>A (p.Asn324Lys) c.654C>A (p.Asn218Lys) c.195C>A (p.Asn65Lys) | |
10 | g.122506885C= | CA1941477265 | HTRA1 | c.972C= (p.Asn324=) c.654C= (p.Asn218=) c.195C= (p.Asn65=) | |
10 | g.122506885C>G | CA378585882 | HTRA1 | c.972C>G (p.Asn324Lys) c.654C>G (p.Asn218Lys) c.195C>G (p.Asn65Lys) | |
10 | g.122506885C>T | CA5725979 | HTRA1 | c.972C>T (p.Asn324=) c.654C>T (p.Asn218=) c.195C>T (p.Asn65=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
10 | g.122506885_122506886insTATGGAAACTC | CA2722881991 | HTRA1 | c.972_972+1insTATGGAAACTC (p.Gly329MetfsTer8) c.654_654+1insTATGGAAACTC (p.Gly223MetfsTer8) c.195_195+1insTATGGAAACTC (p.Gly70MetfsTer8) | dbSNP |
10 | g.122506885_122506886insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG | CA2789768176 | HTRA1 | c.972_972+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.972_972+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG) c.654_654+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.654_654+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG) c.195_195+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG (n.195_195+1insTATGGAAACTCGGGAGGCCCGTTAGTAAACCTG) | |
10 | g.122506886G>A | CA378585883 | HTRA1 | c.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 |
10 | g.122506886G>C | CA378585884 | HTRA1 | c.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 |
10 | g.122506886G= | CA1941477266 | HTRA1 | c.972+1G= (n.972+1G=) c.654+1G= (n.654+1G=) c.195+1G= (n.195+1G=) | |
10 | g.122506886G>T | CA378585885 | HTRA1 | c.972+1G>T (n.972+1G>T) c.654+1G>T (n.654+1G>T) c.195+1G>T (n.195+1G>T) | |
10 | g.122506887T>A | CA378585886 | HTRA1 | c.972+2T>A (n.972+2T>A) c.654+2T>A (n.654+2T>A) c.195+2T>A (n.195+2T>A) | |
10 | g.122506887T>C | CA378585887 | HTRA1 | c.972+2T>C (n.972+2T>C) c.654+2T>C (n.654+2T>C) c.195+2T>C (n.195+2T>C) | |
10 | g.122506887T>G | CA378585888 | HTRA1 | c.972+2T>G (n.972+2T>G) c.654+2T>G (n.654+2T>G) c.195+2T>G (n.195+2T>G) | |
10 | g.122506888G>A | CA1941477268 | HTRA1 | c.972+3G>A (n.972+3G>A) c.654+3G>A (n.654+3G>A) c.195+3G>A (n.195+3G>A) | dbSNP |
10 | g.122506888G>C | CA2611246632 | HTRA1 | c.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 |
10 | g.122506888G= | CA1941477267 | HTRA1 | c.972+3G= (n.972+3G=) c.654+3G= (n.654+3G=) c.195+3G= (n.195+3G=) | |
10 | g.122506889A>G | CA2574697801 | HTRA1 | c.972+4A>G (n.972+4A>G) c.654+4A>G (n.654+4A>G) c.195+4A>G (n.195+4A>G) | |
10 | g.122506890G>A | CA2611246633 | HTRA1 | c.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 |
10 | g.122506890G>T | CA2839687204 | HTRA1 | c.972+5G>T (n.972+5G>T) c.654+5G>T (n.654+5G>T) c.195+5G>T (n.195+5G>T) | |
10 | g.122506891C>A | CA5725980 | HTRA1 | c.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 |
10 | g.122506891C= | CA1941477269 | HTRA1 | c.972+6C= (n.972+6C=) c.654+6C= (n.654+6C=) c.195+6C= (n.195+6C=) | |
10 | g.122506891C>G | CA2611246634 | HTRA1 | c.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 |
10 | g.122506892C>A | CA2842616629 | HTRA1 | c.972+7C>A (n.972+7C>A) c.654+7C>A (n.654+7C>A) c.195+7C>A (n.195+7C>A) | |
10 | g.122506892C= | CA1941477270 | HTRA1 | c.972+7C= (n.972+7C=) c.654+7C= (n.654+7C=) c.195+7C= (n.195+7C=) | |
10 | g.122506892C>G | CA2611246635 | HTRA1 | c.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 |
10 | g.122506892C>T | CA5725981 | HTRA1 | c.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 |
10 | g.122506893T>G | CA2789768177 | HTRA1 | c.972+8T>G (n.972+8T>G) c.654+8T>G (n.654+8T>G) c.195+8T>G (n.195+8T>G) | |
10 | g.122506894C>A | CA2839687205 | HTRA1 | c.972+9C>A (n.972+9C>A) c.654+9C>A (n.654+9C>A) c.195+9C>A (n.195+9C>A) | |
10 | g.122506895T>C | CA2789768178 | HTRA1 | c.972+10T>C (n.972+10T>C) c.654+10T>C (n.654+10T>C) c.195+10T>C (n.195+10T>C) | |
10 | g.122506895T>G | CA2611246636 | HTRA1 | c.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 |
10 | g.122506896G>T | CA2611246637 | HTRA1 | c.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 |
10 | g.122506897_122506898delinsTC | CA1941477271 | HTRA1 | c.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) | |
10 | g.122506898C>A | CA2611246638 | HTRA1 | c.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 |
10 | g.122506898C>T | CA2611246639 | HTRA1 | c.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 |
10 | g.122506900del | CA5725982 | HTRA1 | c.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 |
10 | g.122506899C>A | CA2611246640 | HTRA1 | c.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 |
10 | g.122506899C>G | CA2838427743 | HTRA1 | c.972+14C>G (n.972+14C>G) c.654+14C>G (n.654+14C>G) c.195+14C>G (n.195+14C>G) | |
10 | g.122506900C>A | CA2839161909 | HTRA1 | c.972+15C>A (n.972+15C>A) c.654+15C>A (n.654+15C>A) c.195+15C>A (n.195+15C>A) | |
10 | g.122506900C>G | CA2611246641 | HTRA1 | c.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 |
10 | g.122506904G>A | CA2842616630 | HTRA1 | c.972+19G>A (n.972+19G>A) c.654+19G>A (n.654+19G>A) c.195+19G>A (n.195+19G>A) | |
10 | g.122506904G>T | CA2611246642 | HTRA1 | c.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 |
10 | g.122506904dup | CA2838427742 | HTRA1 | c.972+19dup (n.972+19dup) c.654+19dup (n.654+19dup) c.195+19dup (n.195+19dup) | |
10 | g.122506905C>A | CA596579033 | HTRA1 | c.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 |
10 | g.122506905C= | CA1941477272 | HTRA1 | c.972+20C= (n.972+20C=) c.654+20C= (n.654+20C=) c.195+20C= (n.195+20C=) | |
10 | g.122506905C>T | CA5725983 | HTRA1 | c.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 |
10 | g.122506906G>A | CA5725984 | HTRA1 | c.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 |
10 | g.122506906G>C | CA5725985 | HTRA1 | c.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 |
10 | g.122506906G= | CA1941477273 | HTRA1 | c.972+21G= (n.972+21G=) c.654+21G= (n.654+21G=) c.195+21G= (n.195+21G=) | |
10 | g.122506906G>T | CA660910866 | HTRA1 | c.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 |
10 | g.122506907G>C | CA2839687206 | HTRA1 | c.972+22G>C (n.972+22G>C) c.654+22G>C (n.654+22G>C) c.195+22G>C (n.195+22G>C) | |
10 | g.122506907G= | CA1941477274 | HTRA1 | c.972+22G= (n.972+22G=) c.654+22G= (n.654+22G=) c.195+22G= (n.195+22G=) | |
10 | g.122506907G>T | CA214411489 | HTRA1 | c.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 |
10 | g.122506908G>A | CA2611246643 | HTRA1 | c.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 |
10 | g.122506908G>T | CA2611246644 | HTRA1 | c.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 |
10 | g.122506909T>C | CA5725986 | HTRA1 | c.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 |
10 | g.122506909T= | CA1941477275 | HTRA1 | c.972+24T= (n.972+24T=) c.654+24T= (n.654+24T=) c.195+24T= (n.195+24T=) | |
10 | g.122506910G>T | CA2611246645 | HTRA1 | c.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 |
10 | g.122506913dup | CA2839687207 | HTRA1 | c.972+28dup (n.972+28dup) c.654+28dup (n.654+28dup) c.195+28dup (n.195+28dup) | |
10 | g.122506913del | CA2842616631 | HTRA1 | c.972+28del (n.972+28del) c.654+28del (n.654+28del) c.195+28del (n.195+28del) | |
10 | g.122506911G>T | CA2838647628 | HTRA1 | c.972+26G>T (n.972+26G>T) c.654+26G>T (n.654+26G>T) c.195+26G>T (n.195+26G>T) | |
10 | g.122506912G>A | CA2611246646 | HTRA1 | c.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 |
10 | g.122506912G>T | CA2838647622 | HTRA1 | c.972+27G>T (n.972+27G>T) c.654+27G>T (n.654+27G>T) c.195+27G>T (n.195+27G>T) | |
10 | g.122506913G>A | CA2574697802 | HTRA1 | c.972+28G>A (n.972+28G>A) c.654+28G>A (n.654+28G>A) c.195+28G>A (n.195+28G>A) | |
10 | g.122506914A>C | CA2842616632 | HTRA1 | c.972+29A>C (n.972+29A>C) c.654+29A>C (n.654+29A>C) c.195+29A>C (n.195+29A>C) | |
10 | g.122506914A>T | CA2574697803 | HTRA1 | c.972+29A>T (n.972+29A>T) c.654+29A>T (n.654+29A>T) c.195+29A>T (n.195+29A>T) | |
10 | g.122506915T>C | CA5725987 | HTRA1 | c.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 |
10 | g.122506915T= | CA1941477276 | HTRA1 | c.972+30T= (n.972+30T=) c.654+30T= (n.654+30T=) c.195+30T= (n.195+30T=) | |
10 | g.122506916del | CA2611246647 | HTRA1 | c.972+31del (n.972+31del) c.654+31del (n.654+31del) c.195+31del (n.195+31del) | gnomAD v4 |
10 | g.122506916_122506917delinsTG | CA1941477277 | HTRA1 | c.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) | |
10 | g.122506917G>A | CA2611246648 | HTRA1 | c.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 |
10 | g.122506917G>T | CA2611246649 | HTRA1 | c.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 |
10 | g.122506920dup | CA2842616633 | HTRA1 | c.972+35dup (n.972+35dup) c.654+35dup (n.654+35dup) c.195+35dup (n.195+35dup) | |
10 | g.122506920del | CA5725988 | HTRA1 | c.972+35del (n.972+35del) c.654+35del (n.654+35del) c.195+35del (n.195+35del) | dbSNP ExAC gnomAD v2 |
10 | g.122506918G>T | CA2838647625 | HTRA1 | c.972+33G>T (n.972+33G>T) c.654+33G>T (n.654+33G>T) c.195+33G>T (n.195+33G>T) | |
10 | g.122506919G>C | CA2574697804 | HTRA1 | c.972+34G>C (n.972+34G>C) c.654+34G>C (n.654+34G>C) c.195+34G>C (n.195+34G>C) | |
10 | g.122506919G>T | CA2611246650 | HTRA1 | c.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 |
10 | g.122506920G>A | CA5725989 | HTRA1 | c.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 |
10 | g.122506920G= | CA1941477278 | HTRA1 | c.972+35G= (n.972+35G=) c.654+35G= (n.654+35G=) c.195+35G= (n.195+35G=) | |
10 | g.122506920G>T | CA2611246651 | HTRA1 | c.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 |