Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.63788136del | CA270062 | EYS | c.7694del (p.Asn2565MetfsTer?) c.1008del n.334del | ClinVar dbSNP |
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 |