| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.65057613C>A | CA364787320 | EYS | c.2137+1G>T (n.2137+1G>T) | |
| 6 | g.65057613C= | CA1634036118 | EYS | c.2137+1G= (n.2137+1G=) | |
| 6 | g.65057613C>G | CA364787321 | EYS | c.2137+1G>C (n.2137+1G>C) | |
| 6 | g.65057613C>T | CA3877324 | EYS | c.2137+1G>A (n.2137+1G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.65057614C>A | CA364787322 | EYS | c.2137G>T (p.Val713Leu) | |
| 6 | g.65057614C>G | CA364787324 | EYS | c.2137G>C (p.Val713Leu) | |
| 6 | g.65057614C>T | CA364787326 | EYS | c.2137G>A (p.Val713Met) | gnomAD v4 |
| 6 | g.65057615T>A | CA364787328 | EYS | c.2136A>T (p.Lys712Asn) | |
| 6 | g.65057615T>C | CA450765803 | EYS | c.2136A>G (p.Lys712=) | |
| 6 | g.65057615T>G | CA364787330 | EYS | c.2136A>C (p.Lys712Asn) | |
| 6 | g.65057616T>A | CA364787335 | EYS | c.2135A>T (p.Lys712Ile) | |
| 6 | g.65057616T>C | CA364787338 | EYS | c.2135A>G (p.Lys712Arg) | |
| 6 | g.65057616T>G | CA364787332 | EYS | c.2135A>C (p.Lys712Thr) | |
| 6 | g.65057617T>A | CA364787346 | EYS | c.2134A>T (p.Lys712Ter) | |
| 6 | g.65057617T>C | CA364787341 | EYS | c.2134A>G (p.Lys712Glu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.65057617T>G | CA364787344 | EYS | c.2134A>C (p.Lys712Gln) | |
| 6 | g.65057617T= | CA1634036121 | EYS | c.2134A= (p.Lys712=) | |
| 6 | g.65057618A>C | CA364787349 | EYS | c.2133T>G (p.Phe711Leu) | |
| 6 | g.65057618A>G | CA450765804 | EYS | c.2133T>C (p.Phe711=) | |
| 6 | g.65057618A>T | CA364787351 | EYS | c.2133T>A (p.Phe711Leu) | |
| 6 | g.65057620del | CA2580075659 | EYS | c.2133del (p.Phe711LeufsTer18) | ClinVar |
| 6 | g.65057619A= | CA1634036124 | EYS | c.2132T= (p.Phe711=) | |
| 6 | g.65057619A>C | CA364787354 | EYS | c.2132T>G (p.Phe711Cys) | |
| 6 | g.65057619A>G | CA364787356 | EYS | c.2132T>C (p.Phe711Ser) | |
| 6 | g.65057619A>T | CA140397899 | EYS | c.2132T>A (p.Phe711Tyr) | dbSNP gnomAD v4 |
| 6 | g.65057620A>C | CA364787360 | EYS | c.2131T>G (p.Phe711Val) | |
| 6 | g.65057620A>G | CA364787362 | EYS | c.2131T>C (p.Phe711Leu) | gnomAD v4 |
| 6 | g.65057620A>T | CA364787364 | EYS | c.2131T>A (p.Phe711Ile) | |
| 6 | g.65057621T>A | CA450765805 | EYS | c.2130A>T (p.Pro710=) | COSMIC |
| 6 | g.65057621T>C | CA450765806 | EYS | c.2130A>G (p.Pro710=) | gnomAD v4 |
| 6 | g.65057621T>G | CA450765807 | EYS | c.2130A>C (p.Pro710=) | |
| 6 | g.65057622G>A | CA364787367 | EYS | c.2129C>T (p.Pro710Leu) | |
| 6 | g.65057622G>C | CA364787369 | EYS | c.2129C>G (p.Pro710Arg) | |
| 6 | g.65057622G= | CA1634036127 | EYS | c.2129C= (p.Pro710=) | |
| 6 | g.65057622G>T | CA364787371 | EYS | c.2129C>A (p.Pro710Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.65057623G>A | CA364787379 | EYS | c.2128C>T (p.Pro710Ser) | gnomAD v4 |
| 6 | g.65057623G>C | CA364787373 | EYS | c.2128C>G (p.Pro710Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.65057623G= | CA1634036128 | EYS | c.2128C= (p.Pro710=) | |
| 6 | g.65057623G>T | CA364787377 | EYS | c.2128C>A (p.Pro710Thr) | |
| 6 | g.65057624del | CA2679288048 | EYS | c.2127del (p.Pro710HisfsTer19) | gnomAD v4 |
| 6 | g.65057624A= | CA1634036131 | EYS | c.2127T= (p.Pro709=) | |
| 6 | g.65057624A>C | CA450765808 | EYS | c.2127T>G (p.Pro709=) | |
| 6 | g.65057624A>G | CA450765809 | EYS | c.2127T>C (p.Pro709=) | gnomAD v4 |
| 6 | g.65057624A>T | CA450765810 | EYS | c.2127T>A (p.Pro709=) | dbSNP gnomAD v2 gnomAD v4 |
| 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) |