Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.63788123A>C | CA364384769 | EYS | c.7705T>G (p.Phe2569Val) c.1019T>G n.345T>G | |
6 | g.63788123A>G | CA364384771 | EYS | c.7705T>C (p.Phe2569Leu) c.1019T>C n.345T>C | |
6 | g.63788123A>T | CA364384773 | EYS | c.7705T>A (p.Phe2569Ile) c.1019T>A n.345T>A | |
6 | g.63788124A= | CA1633415695 | EYS | c.7704T= (p.Asp2568=) c.1018T= n.344T= | |
6 | g.63788124A>C | CA364384776 | EYS | c.7704T>G (p.Asp2568Glu) c.1018T>G n.344T>G | |
6 | g.63788124A>G | CA450742840 | EYS | c.7704T>C (p.Asp2568=) c.1018T>C n.344T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788124A>T | CA364384777 | EYS | c.7704T>A (p.Asp2568Glu) c.1018T>A n.344T>A | |
6 | g.63788125T>A | CA364384781 | EYS | c.7703A>T (p.Asp2568Val) c.1017A>T n.343A>T | |
6 | g.63788125T>C | CA364384785 | EYS | c.7703A>G (p.Asp2568Gly) c.1017A>G n.343A>G | |
6 | g.63788125T>G | CA364384783 | EYS | c.7703A>C (p.Asp2568Ala) c.1017A>C n.343A>C | |
6 | g.63788125_63788128delinsTCTG | CA1633415696 | EYS | c.7700_7703delinsCAGA (p.Ala2567=) c.1014_1017delinsCAGA n.340_343delinsCAGA | |
6 | g.63788126C>A | CA364384789 | EYS | c.7702G>T (p.Asp2568Tyr) c.1016G>T n.342G>T | |
6 | g.63788126C>G | CA364384793 | EYS | c.7702G>C (p.Asp2568His) c.1016G>C n.342G>C | |
6 | g.63788126C>T | CA364384795 | EYS | c.7702G>A (p.Asp2568Asn) c.1016G>A n.342G>A | gnomAD v4 |
6 | g.63788128_63788130del | CA140243934 | EYS | c.7700_7702del (p.Ala2567del) c.1014_1016del n.340_342del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788127T>A | CA450742841 | EYS | c.7701A>T (p.Ala2567=) c.1015A>T n.341A>T | |
6 | g.63788127T>C | CA450742842 | EYS | c.7701A>G (p.Ala2567=) c.1015A>G n.341A>G | |
6 | g.63788127T>G | CA450742843 | EYS | c.7701A>C (p.Ala2567=) c.1015A>C n.341A>C | ClinVar dbSNP gnomAD v4 |
6 | g.63788127T= | CA1633415697 | EYS | c.7701A= (p.Ala2567=) c.1015A= n.341A= | |
6 | g.63788128G>A | CA364384800 | EYS | c.7700C>T (p.Ala2567Val) c.1014C>T n.340C>T | gnomAD v4 |
6 | g.63788128G>C | CA364384798 | EYS | c.7700C>G (p.Ala2567Gly) c.1014C>G n.340C>G | gnomAD v4 |
6 | g.63788128G>T | CA364384803 | EYS | c.7700C>A (p.Ala2567Glu) c.1014C>A n.340C>A | |
6 | g.63788129C>A | CA364384807 | EYS | c.7699G>T (p.Ala2567Ser) c.1013G>T n.339G>T | |
6 | g.63788129C= | CA1633415698 | EYS | c.7699G= (p.Ala2567=) c.1013G= n.339G= | |
6 | g.63788129C>G | CA364384808 | EYS | c.7699G>C (p.Ala2567Pro) c.1013G>C n.339G>C | |
6 | g.63788129C>T | CA364384810 | EYS | c.7699G>A (p.Ala2567Thr) c.1013G>A n.339G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788130T>A | CA450742846 | EYS | c.7698A>T (p.Gly2566=) c.1012A>T n.338A>T | |
6 | g.63788130T>C | CA450742845 | EYS | c.7698A>G (p.Gly2566=) c.1012A>G n.338A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788130T>G | CA450742844 | EYS | c.7698A>C (p.Gly2566=) c.1012A>C n.338A>C | |
6 | g.63788130T= | CA1633415699 | EYS | c.7698A= (p.Gly2566=) c.1012A= n.338A= | |
6 | g.63788131C>A | CA364384814 | EYS | c.7697G>T (p.Gly2566Val) c.1011G>T n.337G>T | |
6 | g.63788131C= | CA1633415700 | EYS | c.7697G= (p.Gly2566=) c.1011G= n.337G= | |
6 | g.63788131C>G | CA364384816 | EYS | c.7697G>C (p.Gly2566Ala) c.1011G>C n.337G>C | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788131C>T | CA3876791 | EYS | c.7697G>A (p.Gly2566Glu) c.1011G>A n.337G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788132C>A | CA364384819 | EYS | c.7696G>T (p.Gly2566Ter) c.1010G>T n.336G>T | ClinVar gnomAD v4 |
6 | g.63788132C>G | CA364384821 | EYS | c.7696G>C (p.Gly2566Arg) c.1010G>C n.336G>C | gnomAD v4 |
6 | g.63788132C>T | CA364384823 | EYS | c.7696G>A (p.Gly2566Arg) c.1010G>A n.336G>A | gnomAD v4 |
6 | g.63788133A>C | CA364384825 | EYS | c.7695T>G (p.Asn2565Lys) c.1009T>G n.335T>G | |
6 | g.63788133A>G | CA450742847 | EYS | c.7695T>C (p.Asn2565=) c.1009T>C n.335T>C | ClinVar |
6 | g.63788133A>T | CA364384828 | EYS | c.7695T>A (p.Asn2565Lys) c.1009T>A n.335T>A | |
6 | g.63788133_63788134delinsAT | CA1633415701 | EYS | c.7694_7695delinsAT (p.Asn2565=) c.1008_1009delinsAT n.334_335delinsAT | |
6 | g.63788134T>A | CA364384835 | EYS | c.7694A>T (p.Asn2565Ile) c.1008A>T n.334A>T | |
6 | g.63788134T>C | CA364384837 | EYS | c.7694A>G (p.Asn2565Ser) c.1008A>G n.334A>G | |
6 | g.63788134T>G | CA364384833 | EYS | c.7694A>C (p.Asn2565Thr) c.1008A>C n.334A>C | |
6 | g.63788136del | CA270062 | EYS | c.7694del (p.Asn2565MetfsTer?) c.1008del n.334del | ClinVar dbSNP |
6 | g.63788135T>A | CA364384839 | EYS | c.7693A>T (p.Asn2565Tyr) c.1007A>T n.333A>T | |
6 | g.63788135T>C | CA364384841 | EYS | c.7693A>G (p.Asn2565Asp) c.1007A>G n.333A>G | |
6 | g.63788135T>G | CA364384842 | EYS | c.7693A>C (p.Asn2565His) c.1007A>C n.333A>C | |
6 | g.63788136T>A | CA450742848 | EYS | c.7692A>T (p.Pro2564=) c.1006A>T n.332A>T | |
6 | g.63788136T>C | CA450742849 | EYS | c.7692A>G (p.Pro2564=) c.1006A>G n.332A>G | |
6 | g.63788136T>G | CA450742850 | EYS | c.7692A>C (p.Pro2564=) c.1006A>C n.332A>C | |
6 | g.63788137G>A | CA364384845 | EYS | c.7691C>T (p.Pro2564Leu) c.1005C>T n.331C>T | |
6 | g.63788137G>C | CA364384847 | EYS | c.7691C>G (p.Pro2564Arg) c.1005C>G n.331C>G | |
6 | g.63788137G>T | CA364384848 | EYS | c.7691C>A (p.Pro2564Gln) c.1005C>A n.331C>A | |
6 | g.63788138G>A | CA364384851 | EYS | c.7690C>T (p.Pro2564Ser) c.1004C>T n.330C>T | dbSNP gnomAD v4 |
6 | g.63788138G>C | CA364384854 | EYS | c.7690C>G (p.Pro2564Ala) c.1004C>G n.330C>G | gnomAD v4 |
6 | g.63788138G= | CA1633415702 | EYS | c.7690C= (p.Pro2564=) c.1004C= n.330C= | |
6 | g.63788138G>T | CA140243935 | EYS | c.7690C>A (p.Pro2564Thr) c.1004C>A n.330C>A | dbSNP gnomAD v4 |
6 | g.63788139T>A | CA364384857 | EYS | c.7689A>T (p.Leu2563Phe) c.1003A>T n.329A>T | |
6 | g.63788139T>C | CA450742852 | EYS | c.7689A>G (p.Leu2563=) c.1003A>G n.329A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788139T>G | CA364384859 | EYS | c.7689A>C (p.Leu2563Phe) c.1003A>C n.329A>C | |
6 | g.63788139T= | CA1633415703 | EYS | c.7689A= (p.Leu2563=) c.1003A= n.329A= | |
6 | g.63788140A>C | CA364384862 | EYS | c.7688T>G (p.Leu2563Ter) c.1002T>G n.328T>G | |
6 | g.63788140A>G | CA364384864 | EYS | c.7688T>C (p.Leu2563Ser) c.1002T>C n.328T>C | |
6 | g.63788140A>T | CA364384867 | EYS | c.7688T>A (p.Leu2563Ter) c.1002T>A n.328T>A | |
6 | g.63788141A>C | CA364384870 | EYS | c.7687T>G (p.Leu2563Val) c.1001T>G n.327T>G | gnomAD v4 |
6 | g.63788141A>G | CA450742853 | EYS | c.7687T>C (p.Leu2563=) c.1001T>C n.327T>C | |
6 | g.63788141A>T | CA364384871 | EYS | c.7687T>A (p.Leu2563Ile) c.1001T>A n.327T>A | |
6 | g.63788142G>A | CA450742854 | EYS | c.7686C>T (p.Leu2562=) c.1000C>T n.326C>T | dbSNP |
6 | g.63788142G>C | CA450742855 | EYS | c.7686C>G (p.Leu2562=) c.1000C>G n.326C>G | |
6 | g.63788142G= | CA1633415704 | EYS | c.7686C= (p.Leu2562=) c.1000C= n.326C= | |
6 | g.63788142G>T | CA450742856 | EYS | c.7686C>A (p.Leu2562=) c.1000C>A n.326C>A | |
6 | g.63788143A= | CA1633415705 | EYS | c.7685T= (p.Leu2562=) c.999T= n.325T= | |
6 | g.63788143A>C | CA364384875 | EYS | c.7685T>G (p.Leu2562Arg) c.999T>G n.325T>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788143A>G | CA364384877 | EYS | c.7685T>C (p.Leu2562Pro) c.999T>C n.325T>C | |
6 | g.63788143A>T | CA364384879 | EYS | c.7685T>A (p.Leu2562His) c.999T>A n.325T>A | |
6 | g.63788144G>A | CA364384881 | EYS | c.7684C>T (p.Leu2562Phe) c.998C>T n.324C>T | gnomAD v4 |
6 | g.63788144G>C | CA364384882 | EYS | c.7684C>G (p.Leu2562Val) c.998C>G n.324C>G | ClinVar dbSNP gnomAD v4 |
6 | g.63788144G= | CA1633415706 | EYS | c.7684C= (p.Leu2562=) c.998C= n.324C= | |
6 | g.63788144G>T | CA364384884 | EYS | c.7684C>A (p.Leu2562Ile) c.998C>A n.324C>A | |
6 | g.63788145A>C | CA364384888 | EYS | c.7683T>G (p.Asp2561Glu) c.997T>G n.323T>G | |
6 | g.63788145A>G | CA450742857 | EYS | c.7683T>C (p.Asp2561=) c.997T>C n.323T>C | |
6 | g.63788145A>T | CA364384886 | EYS | c.7683T>A (p.Asp2561Glu) c.997T>A n.323T>A | |
6 | g.63788146T>A | CA364384891 | EYS | c.7682A>T (p.Asp2561Val) c.996A>T n.322A>T | |
6 | g.63788146T>C | CA364384894 | EYS | c.7682A>G (p.Asp2561Gly) c.996A>G n.322A>G | |
6 | g.63788146T>G | CA364384896 | EYS | c.7682A>C (p.Asp2561Ala) c.996A>C n.322A>C | |
6 | g.63788147C>A | CA364384899 | EYS | c.7681G>T (p.Asp2561Tyr) c.995G>T n.321G>T | |
6 | g.63788147C= | CA1633415707 | EYS | c.7681G= (p.Asp2561=) c.995G= n.321G= | |
6 | g.63788147C>G | CA364384901 | EYS | c.7681G>C (p.Asp2561His) c.995G>C n.321G>C | |
6 | g.63788147C>T | CA364384903 | EYS | c.7681G>A (p.Asp2561Asn) c.995G>A n.321G>A | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788148T>A | CA450742858 | EYS | c.7680A>T (p.Pro2560=) c.994A>T n.320A>T | |
6 | g.63788148T>C | CA450742859 | EYS | c.7680A>G (p.Pro2560=) c.994A>G n.320A>G | |
6 | g.63788148T>G | CA450742860 | EYS | c.7680A>C (p.Pro2560=) c.994A>C n.320A>C | |
6 | g.63788149G>A | CA364384906 | EYS | c.7679C>T (p.Pro2560Leu) c.993C>T n.319C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
6 | g.63788149G>C | CA364384910 | EYS | c.7679C>G (p.Pro2560Arg) c.993C>G n.319C>G | |
6 | g.63788149G= | CA1633415708 | EYS | c.7679C= (p.Pro2560=) c.993C= n.319C= | |
6 | g.63788149G>T | CA364384908 | EYS | c.7679C>A (p.Pro2560Gln) c.993C>A n.319C>A | |
6 | g.63788150del | CA2679298327 | EYS | c.7679del (p.Pro2560GlnfsTer?) c.993del n.319del | gnomAD v4 |
6 | g.63788150G>A | CA364384913 | EYS | c.7678C>T (p.Pro2560Ser) c.992C>T n.318C>T | |
6 | g.63788150G>C | CA364384914 | EYS | c.7678C>G (p.Pro2560Ala) c.992C>G n.318C>G | |
6 | g.63788150G>T | CA364384917 | EYS | c.7678C>A (p.Pro2560Thr) c.992C>A n.318C>A | |
6 | g.63788151A>C | CA450742863 | EYS | c.7677T>G (p.Thr2559=) c.991T>G n.317T>G | |
6 | g.63788151A>G | CA450742861 | EYS | c.7677T>C (p.Thr2559=) c.991T>C n.317T>C | |
6 | g.63788151A>T | CA450742862 | EYS | c.7677T>A (p.Thr2559=) c.991T>A n.317T>A | |
6 | g.63788152G>A | CA140243936 | EYS | c.7676C>T (p.Thr2559Ile) c.990C>T n.316C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788152G>C | CA364384922 | EYS | c.7676C>G (p.Thr2559Ser) c.990C>G n.316C>G | |
6 | g.63788152G= | CA1633415709 | EYS | c.7676C= (p.Thr2559=) c.990C= n.316C= | |
6 | g.63788152G>T | CA364384924 | EYS | c.7676C>A (p.Thr2559Asn) c.990C>A n.316C>A | dbSNP gnomAD v4 |
6 | g.63788153T>A | CA364384927 | EYS | c.7675A>T (p.Thr2559Ser) c.989A>T n.315A>T | dbSNP |
6 | g.63788153T>C | CA364384929 | EYS | c.7675A>G (p.Thr2559Ala) c.989A>G n.315A>G | ClinVar dbSNP gnomAD v4 |
6 | g.63788153T>G | CA364384931 | EYS | c.7675A>C (p.Thr2559Pro) c.989A>C n.315A>C | |
6 | g.63788153T= | CA1633415710 | EYS | c.7675A= (p.Thr2559=) c.989A= n.315A= | |
6 | g.63788154G>A | CA450742865 | EYS | c.7674C>T (p.Tyr2558=) c.988C>T n.314C>T | gnomAD v4 |
6 | g.63788154G>C | CA364384933 | EYS | c.7674C>G (p.Tyr2558Ter) c.988C>G n.314C>G | |
6 | g.63788154G>T | CA364384936 | EYS | c.7674C>A (p.Tyr2558Ter) c.988C>A n.314C>A | |
6 | g.63788155T>A | CA364384939 | EYS | c.7673A>T (p.Tyr2558Phe) c.987A>T n.313A>T | |
6 | g.63788155T>C | CA364384942 | EYS | c.7673A>G (p.Tyr2558Cys) c.987A>G n.313A>G | |
6 | g.63788155T>G | CA364384940 | EYS | c.7673A>C (p.Tyr2558Ser) c.987A>C n.313A>C | |
6 | g.63788156_63788157del | CA2679298328 | EYS | c.7672_7673del (p.Tyr2558HisfsTer12) c.986_987del n.312_313del | gnomAD v4 |
6 | g.63788156A>C | CA364384945 | EYS | c.7672T>G (p.Tyr2558Asp) c.986T>G n.312T>G | |
6 | g.63788156A>G | CA364384948 | EYS | c.7672T>C (p.Tyr2558His) c.986T>C n.312T>C | ClinVar dbSNP |
6 | g.63788156A>T | CA364384946 | EYS | c.7672T>A (p.Tyr2558Asn) c.986T>A n.312T>A | |
6 | g.63788157T>A | CA364384951 | EYS | c.7671A>T (p.Glu2557Asp) c.985A>T n.311A>T | |
6 | g.63788157T>C | CA450742866 | EYS | c.7671A>G (p.Glu2557=) c.985A>G n.311A>G | |
6 | g.63788157T>G | CA364384953 | EYS | c.7671A>C (p.Glu2557Asp) c.985A>C n.311A>C | |
6 | g.63788158T>A | CA364384956 | EYS | c.7670A>T (p.Glu2557Val) c.984A>T n.310A>T | |
6 | g.63788158T>C | CA364384958 | EYS | c.7670A>G (p.Glu2557Gly) c.984A>G n.310A>G | |
6 | g.63788158T>G | CA364384960 | EYS | c.7670A>C (p.Glu2557Ala) c.984A>C n.310A>C | |
6 | g.63788159C>A | CA364384962 | EYS | c.7669G>T (p.Glu2557Ter) c.983G>T n.309G>T | |
6 | g.63788159C= | CA1633415711 | EYS | c.7669G= (p.Glu2557=) c.983G= n.309G= | |
6 | g.63788159C>G | CA364384964 | EYS | c.7669G>C (p.Glu2557Gln) c.983G>C n.309G>C | |
6 | g.63788159C>T | CA140243937 | EYS | c.7669G>A (p.Glu2557Lys) c.983G>A n.309G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788160A>C | CA364384968 | EYS | c.7668T>G (p.Ser2556Arg) c.982T>G n.308T>G | |
6 | g.63788160A>G | CA450742867 | EYS | c.7668T>C (p.Ser2556=) c.982T>C n.308T>C | |
6 | g.63788160A>T | CA364384970 | EYS | c.7668T>A (p.Ser2556Arg) c.982T>A n.308T>A | dbSNP gnomAD v4 |
6 | g.63788161C>A | CA364384976 | EYS | c.7667G>T (p.Ser2556Ile) c.981G>T n.307G>T | |
6 | g.63788161C= | CA1633415712 | EYS | c.7667G= (p.Ser2556=) c.981G= n.307G= | |
6 | g.63788161C>G | CA364384974 | EYS | c.7667G>C (p.Ser2556Thr) c.981G>C n.307G>C | |
6 | g.63788161C>T | CA140243938 | EYS | c.7667G>A (p.Ser2556Asn) c.981G>A n.307G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788162T>A | CA180009 | EYS | c.7666A>T (p.Ser2556Cys) c.980A>T n.306A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788162T>C | CA140243939 | EYS | c.7666A>G (p.Ser2556Gly) c.980A>G n.306A>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788162T>G | CA364384982 | EYS | c.7666A>C (p.Ser2556Arg) c.980A>C n.306A>C | |
6 | g.63788162T= | CA1633415713 | EYS | c.7666A= (p.Ser2556=) c.980A= n.306A= | |
6 | g.63788163_63788164del | CA2679298329 | EYS | c.7665_7666del (p.Tyr2555Ter) c.979_980del n.305_306del | ClinVar dbSNP gnomAD v4 |
6 | g.63788163G>A | CA450742868 | EYS | c.7665C>T (p.Tyr2555=) c.979C>T n.305C>T | ClinVar dbSNP gnomAD v4 |
6 | g.63788163G>C | CA364384985 | EYS | c.7665C>G (p.Tyr2555Ter) c.979C>G n.305C>G | |
6 | g.63788163G>T | CA364384988 | EYS | c.7665C>A (p.Tyr2555Ter) c.979C>A n.305C>A | |
6 | g.63788163_63788164delinsGT | CA1633415714 | EYS | c.7664_7665delinsAC (p.Tyr2555=) c.978_979delinsAC n.304_305delinsAC | |
6 | g.63788164del | CA1633415715 | EYS | c.7664del (p.Tyr2555SerfsTer?) c.978del n.304del | dbSNP |
6 | g.63788164T>A | CA364384991 | EYS | c.7664A>T (p.Tyr2555Phe) c.978A>T n.304A>T | |
6 | g.63788164T>C | CA364384993 | EYS | c.7664A>G (p.Tyr2555Cys) c.978A>G n.304A>G | |
6 | g.63788164T>G | CA364384996 | EYS | c.7664A>C (p.Tyr2555Ser) c.978A>C n.304A>C | |
6 | g.63788165A= | CA1633415716 | EYS | c.7663T= (p.Tyr2555=) c.977T= n.303T= | |
6 | g.63788165A>C | CA364384998 | EYS | c.7663T>G (p.Tyr2555Asp) c.977T>G n.303T>G | |
6 | g.63788165A>G | CA140243940 | EYS | c.7663T>C (p.Tyr2555His) c.977T>C n.303T>C | dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788165A>T | CA364385001 | EYS | c.7663T>A (p.Tyr2555Asn) c.977T>A n.303T>A | |
6 | g.63788166G>A | CA450742869 | EYS | c.7662C>T (p.Gly2554=) c.976C>T n.302C>T | |
6 | g.63788166G>C | CA450742870 | EYS | c.7662C>G (p.Gly2554=) c.976C>G n.302C>G | |
6 | g.63788166G>T | CA450742871 | EYS | c.7662C>A (p.Gly2554=) c.976C>A n.302C>A | |
6 | g.63788167C>A | CA364385006 | EYS | c.7661G>T (p.Gly2554Val) c.975G>T n.301G>T | |
6 | g.63788167C>G | CA364385008 | EYS | c.7661G>C (p.Gly2554Ala) c.975G>C n.301G>C | |
6 | g.63788167C>T | CA364385004 | EYS | c.7661G>A (p.Gly2554Asp) c.975G>A n.301G>A | gnomAD v4 |
6 | g.63788168C>A | CA364385011 | EYS | c.7660G>T (p.Gly2554Cys) c.974G>T n.300G>T | |
6 | g.63788168C>G | CA364385013 | EYS | c.7660G>C (p.Gly2554Arg) c.974G>C n.300G>C | |
6 | g.63788168C>T | CA364385016 | EYS | c.7660G>A (p.Gly2554Ser) c.974G>A n.300G>A | gnomAD v4 |
6 | g.63788169A>C | CA450742873 | EYS | c.7659T>G (p.Gly2553=) c.973T>G n.299T>G | |
6 | g.63788169A>G | CA450742874 | EYS | c.7659T>C (p.Gly2553=) c.973T>C n.299T>C | COSMIC |
6 | g.63788169A>T | CA450742875 | EYS | c.7659T>A (p.Gly2553=) c.973T>A n.299T>A | |
6 | g.63788170C>A | CA364385019 | EYS | c.7658G>T (p.Gly2553Val) c.972G>T n.298G>T | |
6 | g.63788170C>G | CA364385021 | EYS | c.7658G>C (p.Gly2553Ala) c.972G>C n.298G>C | gnomAD v4 |
6 | g.63788170C>T | CA364385023 | EYS | c.7658G>A (p.Gly2553Asp) c.972G>A n.298G>A | ClinVar dbSNP |
6 | g.63788171C>A | CA364385026 | EYS | c.7657G>T (p.Gly2553Cys) c.971G>T n.297G>T | |
6 | g.63788171C>G | CA364385028 | EYS | c.7657G>C (p.Gly2553Arg) c.971G>C n.297G>C | |
6 | g.63788171C>T | CA364385031 | EYS | c.7657G>A (p.Gly2553Ser) c.971G>A n.297G>A | |
6 | g.63788172T>A | CA450742876 | EYS | c.7656A>T (p.Val2552=) c.970A>T n.296A>T | |
6 | g.63788172T>C | CA450742877 | EYS | c.7656A>G (p.Val2552=) c.970A>G n.296A>G | ClinVar gnomAD v4 |
6 | g.63788172T>G | CA450742878 | EYS | c.7656A>C (p.Val2552=) c.970A>C n.296A>C | |
6 | g.63788173A>C | CA364385032 | EYS | c.7655T>G (p.Val2552Gly) c.969T>G n.295T>G | |
6 | g.63788173A>G | CA364385035 | EYS | c.7655T>C (p.Val2552Ala) c.969T>C n.295T>C | |
6 | g.63788173A>T | CA364385037 | EYS | c.7655T>A (p.Val2552Glu) c.969T>A n.295T>A | |
6 | g.63788173_63788174delinsAC | CA1633415717 | EYS | c.7654_7655delinsGT (p.Val2552=) c.968_969delinsGT n.294_295delinsGT | |
6 | g.63788174del | CA16618298 | EYS | c.7654del (p.Val2552Ter) c.968del n.294del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788174C>A | CA364385042 | EYS | c.7654G>T (p.Val2552Leu) c.968G>T n.294G>T | |
6 | g.63788174C>G | CA364385044 | EYS | c.7654G>C (p.Val2552Leu) c.968G>C n.294G>C | |
6 | g.63788174C>T | CA364385040 | EYS | c.7654G>A (p.Val2552Ile) c.968G>A n.294G>A | |
6 | g.63788175A>C | CA364385047 | EYS | c.7653T>G (p.Tyr2551Ter) c.967T>G n.293T>G | |
6 | g.63788175A>G | CA450742879 | EYS | c.7653T>C (p.Tyr2551=) c.967T>C n.293T>C | |
6 | g.63788175A>T | CA364385049 | EYS | c.7653T>A (p.Tyr2551Ter) c.967T>A n.293T>A | |
6 | g.63788176T>A | CA364385053 | EYS | c.7652A>T (p.Tyr2551Phe) c.966A>T n.292A>T | dbSNP |
6 | g.63788176T>C | CA364385055 | EYS | c.7652A>G (p.Tyr2551Cys) c.966A>G n.292A>G | |
6 | g.63788176T>G | CA364385057 | EYS | c.7652A>C (p.Tyr2551Ser) c.966A>C n.292A>C | |
6 | g.63788177A>C | CA364385065 | EYS | c.7651T>G (p.Tyr2551Asp) c.965T>G n.291T>G | |
6 | g.63788177A>G | CA364385060 | EYS | c.7651T>C (p.Tyr2551His) c.965T>C n.291T>C | |
6 | g.63788177A>T | CA364385062 | EYS | c.7651T>A (p.Tyr2551Asn) c.965T>A n.291T>A | |
6 | g.63788178A>C | CA364385066 | EYS | c.7650T>G (p.Phe2550Leu) c.964T>G n.290T>G | |
6 | g.63788178A>G | CA450742880 | EYS | c.7650T>C (p.Phe2550=) c.964T>C n.290T>C | ClinVar |
6 | g.63788178A>T | CA364385067 | EYS | c.7650T>A (p.Phe2550Leu) c.964T>A n.290T>A | |
6 | g.63788179A= | CA1633415718 | EYS | c.7649T= (p.Phe2550=) c.963T= n.289T= | |
6 | g.63788179A>C | CA364385279 | EYS | c.7649T>G (p.Phe2550Cys) c.963T>G n.289T>G | |
6 | g.63788179A>G | CA364385282 | EYS | c.7649T>C (p.Phe2550Ser) c.963T>C n.289T>C | ClinVar dbSNP |
6 | g.63788179A>T | CA364385284 | EYS | c.7649T>A (p.Phe2550Tyr) c.963T>A n.289T>A | |
6 | g.63788179_63788180insTT | CA2679298330 | EYS | c.7648_7649insAA (p.Phe2550Ter) c.962_963insAA n.288_289insAA | gnomAD v4 |
6 | g.63788180A>C | CA364385291 | EYS | c.7648T>G (p.Phe2550Val) c.962T>G n.288T>G | |
6 | g.63788180A>G | CA364385289 | EYS | c.7648T>C (p.Phe2550Leu) c.962T>C n.288T>C | |
6 | g.63788180A>T | CA364385287 | EYS | c.7648T>A (p.Phe2550Ile) c.962T>A n.288T>A | |
6 | g.63788185_63788188del | CA2679298331 | EYS | c.7645_7648del (p.Gln2549PhefsTer3) c.959_962del n.285_288del | gnomAD v4 |
6 | g.63788180_63788181insT | CA2679298332 | EYS | c.7647_7648insA (p.Phe2550IlefsTer8) c.961_962insA n.287_288insA | gnomAD v4 |
6 | g.63788181C>A | CA364385293 | EYS | c.7647G>T (p.Gln2549His) c.961G>T n.287G>T | |
6 | g.63788181C= | CA1633415719 | EYS | c.7647G= (p.Gln2549=) c.961G= n.287G= | |
6 | g.63788181C>G | CA364385294 | EYS | c.7647G>C (p.Gln2549His) c.961G>C n.287G>C | |
6 | g.63788181C>T | CA450742881 | EYS | c.7647G>A (p.Gln2549=) c.961G>A n.287G>A | dbSNP |
6 | g.63788182T>A | CA364385298 | EYS | c.7646A>T (p.Gln2549Leu) c.960A>T n.286A>T | |
6 | g.63788182T>C | CA364385303 | EYS | c.7646A>G (p.Gln2549Arg) c.960A>G n.286A>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788182T>G | CA364385301 | EYS | c.7646A>C (p.Gln2549Pro) c.960A>C n.286A>C | |
6 | g.63788182T= | CA1633415720 | EYS | c.7646A= (p.Gln2549=) c.960A= n.286A= | |
6 | g.63788182_63788183del | CA2573141111 | EYS | c.7645_7646del (p.Gln2549ValfsTer8) c.959_960del n.285_286del | ClinVar dbSNP |
6 | g.63788183G>A | CA364385307 | EYS | c.7645C>T (p.Gln2549Ter) c.959C>T n.285C>T | |
6 | g.63788183G>C | CA364385309 | EYS | c.7645C>G (p.Gln2549Glu) c.959C>G n.285C>G | |
6 | g.63788183G>T | CA364385312 | EYS | c.7645C>A (p.Gln2549Lys) c.959C>A n.285C>A | |
6 | g.63788184A>C | CA364385314 | EYS | c.7644T>G (p.Ser2548Arg) c.958T>G n.284T>G | |
6 | g.63788184A>G | CA450742883 | EYS | c.7644T>C (p.Ser2548=) c.958T>C n.284T>C | |
6 | g.63788184A>T | CA364385315 | EYS | c.7644T>A (p.Ser2548Arg) c.958T>A n.284T>A | |
6 | g.63788185C>A | CA364385316 | EYS | c.7643G>T (p.Ser2548Ile) c.957G>T n.283G>T | |
6 | g.63788185C>G | CA364385317 | EYS | c.7643G>C (p.Ser2548Thr) c.957G>C n.283G>C | |
6 | g.63788185C>T | CA364385318 | EYS | c.7643G>A (p.Ser2548Asn) c.957G>A n.283G>A | |
6 | g.63788186T>A | CA364385319 | EYS | c.7642A>T (p.Ser2548Cys) c.956A>T n.282A>T | |
6 | g.63788186T>C | CA364385320 | EYS | c.7642A>G (p.Ser2548Gly) c.956A>G n.282A>G | |
6 | g.63788186T>G | CA364385321 | EYS | c.7642A>C (p.Ser2548Arg) c.956A>C n.282A>C | |
6 | g.63788187G>A | CA450742893 | EYS | c.7641C>T (p.Phe2547=) c.955C>T n.281C>T | |
6 | g.63788187G>C | CA364385323 | EYS | c.7641C>G (p.Phe2547Leu) c.955C>G n.281C>G | |
6 | g.63788187G>T | CA364385322 | EYS | c.7641C>A (p.Phe2547Leu) c.955C>A n.281C>A | |
6 | g.63788188A>C | CA364385326 | EYS | c.7640T>G (p.Phe2547Cys) c.954T>G n.280T>G | |
6 | g.63788188A>G | CA364385328 | EYS | c.7640T>C (p.Phe2547Ser) c.954T>C n.280T>C | |
6 | g.63788188A>T | CA364385330 | EYS | c.7640T>A (p.Phe2547Tyr) c.954T>A n.280T>A | |
6 | g.63788189A>C | CA364385333 | EYS | c.7639T>G (p.Phe2547Val) c.953T>G n.279T>G | |
6 | g.63788189A>G | CA364385335 | EYS | c.7639T>C (p.Phe2547Leu) c.953T>C n.279T>C | |
6 | g.63788189A>T | CA364385338 | EYS | c.7639T>A (p.Phe2547Ile) c.953T>A n.279T>A | |
6 | g.63788190G>A | CA450742898 | EYS | c.7638C>T (p.Val2546=) c.952C>T n.278C>T | gnomAD v4 |
6 | g.63788190G>C | CA450742899 | EYS | c.7638C>G (p.Val2546=) c.952C>G n.278C>G | |
6 | g.63788190G>T | CA450742897 | EYS | c.7638C>A (p.Val2546=) c.952C>A n.278C>A | |
6 | g.63788191A>C | CA364385341 | EYS | c.7637T>G (p.Val2546Gly) c.951T>G n.277T>G | |
6 | g.63788191A>G | CA364385342 | EYS | c.7637T>C (p.Val2546Ala) c.951T>C n.277T>C | |
6 | g.63788191A>T | CA364385343 | EYS | c.7637T>A (p.Val2546Asp) c.951T>A n.277T>A | |
6 | g.63788192C>A | CA364385346 | EYS | c.7636G>T (p.Val2546Phe) c.950G>T n.276G>T | |
6 | g.63788192C= | CA1633415721 | EYS | c.7636G= (p.Val2546=) c.950G= n.276G= | |
6 | g.63788192C>G | CA364385348 | EYS | c.7636G>C (p.Val2546Leu) c.950G>C n.276G>C | |
6 | g.63788192C>T | CA364385351 | EYS | c.7636G>A (p.Val2546Ile) c.950G>A n.276G>A | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788193A= | CA1633415722 | EYS | c.7635T= (p.Asn2545=) c.949T= n.275T= | |
6 | g.63788193A>C | CA364385356 | EYS | c.7635T>G (p.Asn2545Lys) c.949T>G n.275T>G | |
6 | g.63788193A>G | CA450742903 | EYS | c.7635T>C (p.Asn2545=) c.949T>C n.275T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788193A>T | CA364385354 | EYS | c.7635T>A (p.Asn2545Lys) c.949T>A n.275T>A | |
6 | g.63788194T>A | CA364385359 | EYS | c.7634A>T (p.Asn2545Ile) c.948A>T n.274A>T | COSMIC |
6 | g.63788194T>C | CA364385361 | EYS | c.7634A>G (p.Asn2545Ser) c.948A>G n.274A>G | gnomAD v4 |
6 | g.63788194T>G | CA364385363 | EYS | c.7634A>C (p.Asn2545Thr) c.948A>C n.274A>C | |
6 | g.63788194_63788195del | CA2578659739 | EYS | c.7633_7634del (p.Asn2545CysfsTer12) c.947_948del n.273_274del | |
6 | g.63788195T>A | CA364385366 | EYS | c.7633A>T (p.Asn2545Tyr) c.947A>T n.273A>T | |
6 | g.63788195T>C | CA364385368 | EYS | c.7633A>G (p.Asn2545Asp) c.947A>G n.273A>G | |
6 | g.63788195T>G | CA364385369 | EYS | c.7633A>C (p.Asn2545His) c.947A>C n.273A>C | |
6 | g.63788196G>A | CA450742913 | EYS | c.7632C>T (p.Leu2544=) c.946C>T n.272C>T | |
6 | g.63788196G>C | CA450742914 | EYS | c.7632C>G (p.Leu2544=) c.946C>G n.272C>G | |
6 | g.63788196G>T | CA450742916 | EYS | c.7632C>A (p.Leu2544=) c.946C>A n.272C>A | |
6 | g.63788197A>C | CA364385372 | EYS | c.7631T>G (p.Leu2544Arg) c.945T>G n.271T>G | |
6 | g.63788197A>G | CA364385373 | EYS | c.7631T>C (p.Leu2544Pro) c.945T>C n.271T>C | |
6 | g.63788197A>T | CA364385375 | EYS | c.7631T>A (p.Leu2544His) c.945T>A n.271T>A | |
6 | g.63788198G>A | CA364385378 | EYS | c.7630C>T (p.Leu2544Phe) c.944C>T n.270C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788198G>C | CA364385380 | EYS | c.7630C>G (p.Leu2544Val) c.944C>G n.270C>G | dbSNP gnomAD v3 gnomAD v4 |
6 | g.63788198G= | CA1633415723 | EYS | c.7630C= (p.Leu2544=) c.944C= n.270C= | |
6 | g.63788198G>T | CA364385382 | EYS | c.7630C>A (p.Leu2544Ile) c.944C>A n.270C>A | |
6 | g.63788199A>C | CA450742925 | EYS | c.7629T>G (p.Gly2543=) c.943T>G n.269T>G | |
6 | g.63788199A>G | CA450742926 | EYS | c.7629T>C (p.Gly2543=) c.943T>C n.269T>C | |
6 | g.63788199A>T | CA450742928 | EYS | c.7629T>A (p.Gly2543=) c.943T>A n.269T>A | |
6 | g.63788200C>A | CA364385388 | EYS | c.7628G>T (p.Gly2543Val) c.942G>T n.268G>T | |
6 | g.63788200C>G | CA364385390 | EYS | c.7628G>C (p.Gly2543Ala) c.942G>C n.268G>C | |
6 | g.63788200C>T | CA364385385 | EYS | c.7628G>A (p.Gly2543Asp) c.942G>A n.268G>A | gnomAD v4 |
6 | g.63788201del | CA2771459616 | EYS | c.7628del (p.Gly2543ValfsTer10) c.942del n.268del | |
6 | g.63788201C>A | CA364385394 | EYS | c.7627G>T (p.Gly2543Cys) c.941G>T n.267G>T | dbSNP COSMIC |
6 | g.63788201C= | CA1633415724 | EYS | c.7627G= (p.Gly2543=) c.941G= n.267G= | |
6 | g.63788201C>G | CA364385396 | EYS | c.7627G>C (p.Gly2543Arg) c.941G>C n.267G>C | |
6 | g.63788201C>T | CA364385397 | EYS | c.7627G>A (p.Gly2543Ser) c.941G>A n.267G>A | ClinVar dbSNP |
6 | g.63788202A>C | CA450742945 | EYS | c.7626T>G (p.Val2542=) c.940T>G n.266T>G | |
6 | g.63788202A>G | CA450742947 | EYS | c.7626T>C (p.Val2542=) c.940T>C n.266T>C | |
6 | g.63788202A>T | CA450742949 | EYS | c.7626T>A (p.Val2542=) c.940T>A n.266T>A | |
6 | g.63788203A= | CA1633415725 | EYS | c.7625T= (p.Val2542=) c.939T= n.265T= | |
6 | g.63788203A>C | CA364385401 | EYS | c.7625T>G (p.Val2542Gly) c.939T>G n.265T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788203A>G | CA364385403 | EYS | c.7625T>C (p.Val2542Ala) c.939T>C n.265T>C | |
6 | g.63788203A>T | CA364385406 | EYS | c.7625T>A (p.Val2542Asp) c.939T>A n.265T>A | |
6 | g.63788204C>A | CA364385409 | EYS | c.7624G>T (p.Val2542Phe) c.938G>T n.264G>T | ClinVar dbSNP |
6 | g.63788204C>G | CA364385414 | EYS | c.7624G>C (p.Val2542Leu) c.938G>C n.264G>C | |
6 | g.63788204C>T | CA364385411 | EYS | c.7624G>A (p.Val2542Ile) c.938G>A n.264G>A | gnomAD v4 COSMIC |
6 | g.63788205del | CA2580075616 | EYS | c.7624del (p.Val2542LeufsTer11) c.938del n.264del | ClinVar |
6 | g.63788205C>A | CA450742959 | EYS | c.7623G>T (p.Leu2541=) c.937G>T n.263G>T | gnomAD v4 |
6 | g.63788205C>G | CA450742962 | EYS | c.7623G>C (p.Leu2541=) c.937G>C n.263G>C | |
6 | g.63788205C>T | CA450742958 | EYS | c.7623G>A (p.Leu2541=) c.937G>A n.263G>A | gnomAD v4 |
6 | g.63788206A= | CA1633415726 | EYS | c.7622T= (p.Leu2541=) c.936T= n.262T= | |
6 | g.63788206A>C | CA364385417 | EYS | c.7622T>G (p.Leu2541Arg) c.936T>G n.262T>G | |
6 | g.63788206A>G | CA364385418 | EYS | c.7622T>C (p.Leu2541Pro) c.936T>C n.262T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788206A>T | CA364385420 | EYS | c.7622T>A (p.Leu2541Gln) c.936T>A n.262T>A | |
6 | g.63788207G>A | CA450742967 | EYS | c.7621C>T (p.Leu2541=) c.935C>T n.261C>T | |
6 | g.63788207G>C | CA364385422 | EYS | c.7621C>G (p.Leu2541Val) c.935C>G n.261C>G | |
6 | g.63788207G>T | CA364385424 | EYS | c.7621C>A (p.Leu2541Met) c.935C>A n.261C>A | |
6 | g.63788208T>A | CA364385437 | EYS | c.7620A>T (p.Arg2540Ser) c.934A>T n.260A>T | gnomAD v4 |
6 | g.63788208T>C | CA450742970 | EYS | c.7620A>G (p.Arg2540=) c.934A>G n.260A>G | |
6 | g.63788208T>G | CA10624512 | EYS | c.7620A>C (p.Arg2540Ser) c.934A>C n.260A>C | ClinVar dbSNP |
6 | g.63788208T= | CA1633415727 | EYS | c.7620A= (p.Arg2540=) c.934A= n.260A= | |
6 | g.63788209C>A | CA364385443 | EYS | c.7619G>T (p.Arg2540Ile) c.933G>T n.259G>T | |
6 | g.63788209C>G | CA364385447 | EYS | c.7619G>C (p.Arg2540Thr) c.933G>C n.259G>C | |
6 | g.63788209C>T | CA364385444 | EYS | c.7619G>A (p.Arg2540Lys) c.933G>A n.259G>A | gnomAD v4 |
6 | g.63788210T>A | CA364385449 | EYS | c.7618A>T (p.Arg2540Ter) c.932A>T n.258A>T | |
6 | g.63788210T>C | CA364385451 | EYS | c.7618A>G (p.Arg2540Gly) c.932A>G n.258A>G | COSMIC |
6 | g.63788210T>G | CA450742979 | EYS | c.7618A>C (p.Arg2540=) c.932A>C n.258A>C | |
6 | g.63788211T>A | CA450742982 | EYS | c.7617A>T (p.Gly2539=) c.931A>T n.257A>T | |
6 | g.63788211T>C | CA450742984 | EYS | c.7617A>G (p.Gly2539=) c.931A>G n.257A>G | ClinVar dbSNP |
6 | g.63788211T>G | CA450742981 | EYS | c.7617A>C (p.Gly2539=) c.931A>C n.257A>C | |
6 | g.63788211T= | CA1633415729 | EYS | c.7617A= (p.Gly2539=) c.931A= n.257A= | |
6 | g.63788211_63788212delinsTC | CA1633415728 | EYS | c.7616_7617delinsGA (p.Gly2539=) c.930_931delinsGA n.256_257delinsGA | |
6 | g.63788212C>A | CA364385453 | EYS | c.7616G>T (p.Gly2539Val) c.930G>T n.256G>T | gnomAD v4 |
6 | g.63788212C= | CA1633415730 | EYS | c.7616G= (p.Gly2539=) c.930G= n.256G= | |
6 | g.63788212C>G | CA364385455 | EYS | c.7616G>C (p.Gly2539Ala) c.930G>C n.256G>C | dbSNP gnomAD v4 |
6 | g.63788212C>T | CA364385457 | EYS | c.7616G>A (p.Gly2539Glu) c.930G>A n.256G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788213del | CA826975955 | EYS | c.7616del (p.Gly2539GlufsTer14) c.930del n.256del | dbSNP |
6 | g.63788213C>A | CA364385460 | EYS | c.7615G>T (p.Gly2539Ter) c.929G>T n.255G>T | |
6 | g.63788213C>G | CA364385462 | EYS | c.7615G>C (p.Gly2539Arg) c.929G>C n.255G>C | |
6 | g.63788213C>T | CA364385464 | EYS | c.7615G>A (p.Gly2539Arg) c.929G>A n.255G>A | |
6 | g.63788214T>A | CA450742993 | EYS | c.7614A>T (p.Pro2538=) c.928A>T n.254A>T | |
6 | g.63788214T>C | CA450742994 | EYS | c.7614A>G (p.Pro2538=) c.928A>G n.254A>G | |
6 | g.63788214T>G | CA450742996 | EYS | c.7614A>C (p.Pro2538=) c.928A>C n.254A>C | |
6 | g.63788215G>A | CA364385467 | EYS | c.7613C>T (p.Pro2538Leu) c.927C>T n.253C>T | |
6 | g.63788215G>C | CA364385469 | EYS | c.7613C>G (p.Pro2538Arg) c.927C>G n.253C>G | |
6 | g.63788215G= | CA1633415731 | EYS | c.7613C= (p.Pro2538=) c.927C= n.253C= | |
6 | g.63788215G>T | CA364385471 | EYS | c.7613C>A (p.Pro2538Gln) c.927C>A n.253C>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.63788218del | CA2695206599 | EYS | c.7613del (p.Pro2538GlnfsTer15) c.927del n.253del | |
6 | g.63788216G>A | CA364385479 | EYS | c.7612C>T (p.Pro2538Ser) c.926C>T n.252C>T | gnomAD v4 COSMIC |
6 | g.63788216G>C | CA364385473 | EYS | c.7612C>G (p.Pro2538Ala) c.926C>G n.252C>G | |
6 | g.63788216G>T | CA364385475 | EYS | c.7612C>A (p.Pro2538Thr) c.926C>A n.252C>A | |
6 | g.63788217G>A | CA450743002 | EYS | c.7611C>T (p.Ala2537=) c.925C>T n.251C>T | ClinVar dbSNP |
6 | g.63788217G>C | CA450743003 | EYS | c.7611C>G (p.Ala2537=) c.925C>G n.251C>G | |
6 | g.63788217G= | CA1633415732 | EYS | c.7611C= (p.Ala2537=) c.925C= n.251C= | |
6 | g.63788217G>T | CA450743004 | EYS | c.7611C>A (p.Ala2537=) c.925C>A n.251C>A | |
6 | g.63788218G>A | CA364385480 | EYS | c.7610C>T (p.Ala2537Val) c.924C>T n.250C>T | ClinVar dbSNP gnomAD v4 |
6 | g.63788218G>C | CA364385481 | EYS | c.7610C>G (p.Ala2537Gly) c.924C>G n.250C>G | gnomAD v4 |
6 | g.63788218G= | CA1633415733 | EYS | c.7610C= (p.Ala2537=) c.924C= n.250C= | |
6 | g.63788218G>T | CA364385482 | EYS | c.7610C>A (p.Ala2537Asp) c.924C>A n.250C>A | |
6 | g.63788219C>A | CA364385483 | EYS | c.7609G>T (p.Ala2537Ser) c.923G>T n.249G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.63788219C= | CA1633415734 | EYS | c.7609G= (p.Ala2537=) c.923G= n.249G= | |
6 | g.63788219C>G | CA364385484 | EYS | c.7609G>C (p.Ala2537Pro) c.923G>C n.249G>C | |
6 | g.63788219C>T | CA3876792 | EYS | c.7609G>A (p.Ala2537Thr) c.923G>A n.249G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788220G>A | CA3876793 | EYS | c.7608C>T (p.Ile2536=) c.922C>T n.248C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
6 | g.63788220G>C | CA364385485 | EYS | c.7608C>G (p.Ile2536Met) c.922C>G n.248C>G | |
6 | g.63788220G= | CA1633415735 | EYS | c.7608C= (p.Ile2536=) c.922C= n.248C= | |
6 | g.63788220G>T | CA450743012 | EYS | c.7608C>A (p.Ile2536=) c.922C>A n.248C>A | |
6 | g.63788221A>C | CA364385486 | EYS | c.7607T>G (p.Ile2536Ser) c.921T>G n.247T>G | |
6 | g.63788221A>G | CA364385487 | EYS | c.7607T>C (p.Ile2536Thr) c.921T>C n.247T>C | |
6 | g.63788221A>T | CA364385488 | EYS | c.7607T>A (p.Ile2536Asn) c.921T>A n.247T>A | |
6 | g.63788222T>A | CA364385490 | EYS | c.7606A>T (p.Ile2536Phe) c.920A>T n.246A>T | |
6 | g.63788222T>C | CA364385491 | EYS | c.7606A>G (p.Ile2536Val) c.920A>G n.246A>G | gnomAD v4 |
6 | g.63788222T>G | CA364385489 | EYS | c.7606A>C (p.Ile2536Leu) c.920A>C n.246A>C | |
6 | g.63788223A>C | CA364385492 | EYS | c.7605T>G (p.Ile2535Met) c.919T>G n.245T>G | |
6 | g.63788223A>G | CA450743022 | EYS | c.7605T>C (p.Ile2535=) c.919T>C n.245T>C | |
6 | g.63788223A>T | CA450743021 | EYS | c.7605T>A (p.Ile2535=) c.919T>A n.245T>A |