Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.65057625G>A | CA364787381 | EYS | c.2126C>T (p.Pro709Leu) | |
6 | g.65057625G>C | CA364787384 | EYS | c.2126C>G (p.Pro709Arg) | |
6 | g.65057625G>T | CA364787386 | EYS | c.2126C>A (p.Pro709His) | gnomAD v4 |
6 | g.65057626del | CA450765811 | EYS | c.2126del (p.Pro709LeufsTer20) | COSMIC |
6 | g.65057626G>A | CA364787388 | EYS | c.2125C>T (p.Pro709Ser) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.65057626G>C | CA364787391 | EYS | c.2125C>G (p.Pro709Ala) | |
6 | g.65057626G= | CA1634036134 | EYS | c.2125C= (p.Pro709=) | |
6 | g.65057626G>T | CA364787393 | EYS | c.2125C>A (p.Pro709Thr) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.65057627C>A | CA450765812 | EYS | c.2124G>T (p.Val708=) | |
6 | g.65057627C>G | CA450765814 | EYS | c.2124G>C (p.Val708=) | |
6 | g.65057627C>T | CA450765813 | EYS | c.2124G>A (p.Val708=) | ClinVar dbSNP |
6 | g.65057628A= | CA1634036140 | EYS | c.2123T= (p.Val708=) | |
6 | g.65057628A>C | CA364787410 | EYS | c.2123T>G (p.Val708Gly) | |
6 | g.65057628A>G | CA364787413 | EYS | c.2123T>C (p.Val708Ala) | dbSNP gnomAD v3 gnomAD v4 |
6 | g.65057628A>T | CA364787415 | EYS | c.2123T>A (p.Val708Glu) | |
6 | g.65057629C>A | CA364787418 | EYS | c.2122G>T (p.Val708Leu) | |
6 | g.65057629C>G | CA364787420 | EYS | c.2122G>C (p.Val708Leu) | |
6 | g.65057629C>T | CA364787422 | EYS | c.2122G>A (p.Val708Met) | |
6 | g.65057630A>C | CA364787427 | EYS | c.2121T>G (p.Cys707Trp) | |
6 | g.65057630A>G | CA450765815 | EYS | c.2121T>C (p.Cys707=) | |
6 | g.65057630A>T | CA364787424 | EYS | c.2121T>A (p.Cys707Ter) | |
6 | g.65057631C>A | CA364787431 | EYS | c.2120G>T (p.Cys707Phe) | |
6 | g.65057631C>G | CA364787433 | EYS | c.2120G>C (p.Cys707Ser) | |
6 | g.65057631C>T | CA364787435 | EYS | c.2120G>A (p.Cys707Tyr) | |
6 | g.65057632A>C | CA364787439 | EYS | c.2119T>G (p.Cys707Gly) | |
6 | g.65057632A>G | CA364787441 | EYS | c.2119T>C (p.Cys707Arg) | gnomAD v4 |
6 | g.65057632A>T | CA364787442 | EYS | c.2119T>A (p.Cys707Ser) | |
6 | g.65057633C>A | CA364787446 | EYS | c.2118G>T (p.Gln706His) | |
6 | g.65057633C>G | CA364787448 | EYS | c.2118G>C (p.Gln706His) | |
6 | g.65057633C>T | CA450765816 | EYS | c.2118G>A (p.Gln706=) | |
6 | g.65057634T>A | CA364787450 | EYS | c.2117A>T (p.Gln706Leu) | |
6 | g.65057634T>C | CA364787452 | EYS | c.2117A>G (p.Gln706Arg) | |
6 | g.65057634T>G | CA364787454 | EYS | c.2117A>C (p.Gln706Pro) | |
6 | g.65057635G>A | CA364787458 | EYS | c.2116C>T (p.Gln706Ter) | gnomAD v4 |
6 | g.65057635G>C | CA364787460 | EYS | c.2116C>G (p.Gln706Glu) | |
6 | g.65057635G>T | CA364787462 | EYS | c.2116C>A (p.Gln706Lys) | |
6 | g.65057636G>A | CA450765817 | EYS | c.2115C>T (p.Cys705=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
6 | g.65057636G>C | CA364787467 | EYS | c.2115C>G (p.Cys705Trp) | |
6 | g.65057636G= | CA1634036144 | EYS | c.2115C= (p.Cys705=) | |
6 | g.65057636G>T | CA364787464 | EYS | c.2115C>A (p.Cys705Ter) | |
6 | g.65057637C>A | CA140397900 | EYS | c.2114G>T (p.Cys705Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65057637C= | CA1634036146 | EYS | c.2114G= (p.Cys705=) | |
6 | g.65057637C>G | CA364787471 | EYS | c.2114G>C (p.Cys705Ser) | |
6 | g.65057637C>T | CA364787473 | EYS | c.2114G>A (p.Cys705Tyr) | |
6 | g.65057638A= | CA1634036149 | EYS | c.2113T= (p.Cys705=) | |
6 | g.65057638A>C | CA364787476 | EYS | c.2113T>G (p.Cys705Gly) | |
6 | g.65057638A>G | CA364787478 | EYS | c.2113T>C (p.Cys705Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.65057638A>T | CA364787481 | EYS | c.2113T>A (p.Cys705Ser) | |
6 | g.65057639G>A | CA450765818 | EYS | c.2112C>T (p.Phe704=) | gnomAD v4 COSMIC |
6 | g.65057639G>C | CA364787484 | EYS | c.2112C>G (p.Phe704Leu) |