Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
10 | g.122506817C>A | CA471666942 | HTRA1 | c.904C>A (p.Arg302=) c.586C>A (p.Arg196=) c.127C>A (p.Arg43=) | gnomAD v4 |
10 | g.122506817C= | CA1941477240 | HTRA1 | c.904C= (p.Arg302=) c.586C= (p.Arg196=) c.127C= (p.Arg43=) | |
10 | g.122506817C>G | CA378585731 | HTRA1 | c.904C>G (p.Arg302Gly) c.586C>G (p.Arg196Gly) c.127C>G (p.Arg43Gly) | |
10 | g.122506817C>T | CA340683 | HTRA1 | c.904C>T (p.Arg302Ter) c.586C>T (p.Arg196Ter) c.127C>T (p.Arg43Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
10 | g.122506818G>A | CA378585732 | HTRA1 | c.905G>A (p.Arg302Gln) c.587G>A (p.Arg196Gln) c.128G>A (p.Arg43Gln) | ClinVar dbSNP gnomAD v4 COSMIC |
10 | g.122506818G>C | CA378585734 | HTRA1 | c.905G>C (p.Arg302Pro) c.587G>C (p.Arg196Pro) c.128G>C (p.Arg43Pro) | |
10 | g.122506818G>T | CA378585735 | HTRA1 | c.905G>T (p.Arg302Leu) c.587G>T (p.Arg196Leu) c.128G>T (p.Arg43Leu) | |
10 | g.122506819A>C | CA471666944 | HTRA1 | c.906A>C (p.Arg302=) c.588A>C (p.Arg196=) c.129A>C (p.Arg43=) | |
10 | g.122506819A>G | CA471666945 | HTRA1 | c.906A>G (p.Arg302=) c.588A>G (p.Arg196=) c.129A>G (p.Arg43=) | |
10 | g.122506819A>T | CA471666946 | HTRA1 | c.906A>T (p.Arg302=) c.588A>T (p.Arg196=) c.129A>T (p.Arg43=) | |
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) |