| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.64230777_64230787del | CA913111500 | EYS | c.6229_6239del (p.Val2077Ter) | |
| 6 | g.64230777_64230787delinsGAAGCATCAAC | CA1633626698 | EYS | c.6229_6239delinsGTTGATGCTTC (p.Val2077=) | |
| 6 | g.64230780_64230789del | CA658822023 | EYS | c.6229_6238del (p.Val2077LeufsTer3) | ClinVar dbSNP |
| 6 | g.64230787del | CA2679283470 | EYS | c.6229del (p.Val2077LeufsTer6) | gnomAD v4 |
| 6 | g.64230787C>A | CA364391565 | EYS | c.6229G>T (p.Val2077Phe) | |
| 6 | g.64230787C= | CA1633626700 | EYS | c.6229G= (p.Val2077=) | |
| 6 | g.64230787C>G | CA364391566 | EYS | c.6229G>C (p.Val2077Leu) | |
| 6 | g.64230787C>T | CA364391567 | EYS | c.6229G>A (p.Val2077Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.64230788A>C | CA364391569 | EYS | c.6228T>G (p.Phe2076Leu) | gnomAD v4 |
| 6 | g.64230788A>G | CA450758880 | EYS | c.6228T>C (p.Phe2076=) | |
| 6 | g.64230788A>T | CA364391568 | EYS | c.6228T>A (p.Phe2076Leu) | |
| 6 | g.64230789A>C | CA364391570 | EYS | c.6227T>G (p.Phe2076Cys) | |
| 6 | g.64230789A>G | CA364391571 | EYS | c.6227T>C (p.Phe2076Ser) | |
| 6 | g.64230789A>T | CA364391572 | EYS | c.6227T>A (p.Phe2076Tyr) | |
| 6 | g.64230790A>C | CA364391573 | EYS | c.6226T>G (p.Phe2076Val) | |
| 6 | g.64230790A>G | CA364391574 | EYS | c.6226T>C (p.Phe2076Leu) | gnomAD v4 |
| 6 | g.64230790A>T | CA364391575 | EYS | c.6226T>A (p.Phe2076Ile) | |
| 6 | g.64230791G>A | CA450758881 | EYS | c.6225C>T (p.Ser2075=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.64230791G>C | CA450758882 | EYS | c.6225C>G (p.Ser2075=) | |
| 6 | g.64230791G= | CA1633626701 | EYS | c.6225C= (p.Ser2075=) | |
| 6 | g.64230791G>T | CA450758883 | EYS | c.6225C>A (p.Ser2075=) | |
| 6 | g.64230792G>A | CA364391578 | EYS | c.6224C>T (p.Ser2075Phe) | COSMIC |
| 6 | g.64230792G>C | CA364391577 | EYS | c.6224C>G (p.Ser2075Cys) | gnomAD v4 |
| 6 | g.64230792G>T | CA364391576 | EYS | c.6224C>A (p.Ser2075Tyr) | |
| 6 | g.64230793A>C | CA364391579 | EYS | c.6223T>G (p.Ser2075Ala) | gnomAD v4 |
| 6 | g.64230793A>G | CA364391580 | EYS | c.6223T>C (p.Ser2075Pro) | |
| 6 | g.64230793A>T | CA364391581 | EYS | c.6223T>A (p.Ser2075Thr) | |
| 6 | g.64230794G>A | CA450758884 | EYS | c.6222C>T (p.Ala2074=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230794G>C | CA450758885 | EYS | c.6222C>G (p.Ala2074=) | |
| 6 | g.64230794G= | CA1633626702 | EYS | c.6222C= (p.Ala2074=) | |
| 6 | g.64230794G>T | CA450758886 | EYS | c.6222C>A (p.Ala2074=) | |
| 6 | g.64230795G>A | CA364391582 | EYS | c.6221C>T (p.Ala2074Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230795G>C | CA364391583 | EYS | c.6221C>G (p.Ala2074Gly) | |
| 6 | g.64230795G= | CA1633626703 | EYS | c.6221C= (p.Ala2074=) | |
| 6 | g.64230795G>T | CA364391584 | EYS | c.6221C>A (p.Ala2074Asp) | |
| 6 | g.64230796C>A | CA364391585 | EYS | c.6220G>T (p.Ala2074Ser) | |
| 6 | g.64230796C= | CA1633626704 | EYS | c.6220G= (p.Ala2074=) | |
| 6 | g.64230796C>G | CA364391587 | EYS | c.6220G>C (p.Ala2074Pro) | |
| 6 | g.64230796C>T | CA364391586 | EYS | c.6220G>A (p.Ala2074Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230797T>A | CA450758889 | EYS | c.6219A>T (p.Thr2073=) | |
| 6 | g.64230797T>C | CA450758888 | EYS | c.6219A>G (p.Thr2073=) | |
| 6 | g.64230797T>G | CA450758887 | EYS | c.6219A>C (p.Thr2073=) | |
| 6 | g.64230798G>A | CA364391588 | EYS | c.6218C>T (p.Thr2073Ile) | |
| 6 | g.64230798G>C | CA364391589 | EYS | c.6218C>G (p.Thr2073Arg) | |
| 6 | g.64230798G>T | CA364391590 | EYS | c.6218C>A (p.Thr2073Lys) | |
| 6 | g.64230799T>A | CA364391591 | EYS | c.6217A>T (p.Thr2073Ser) | |
| 6 | g.64230799T>C | CA364391592 | EYS | c.6217A>G (p.Thr2073Ala) | |
| 6 | g.64230799T>G | CA364391593 | EYS | c.6217A>C (p.Thr2073Pro) | |
| 6 | g.64230800T>A | CA450758890 | EYS | c.6216A>T (p.Pro2072=) | |
| 6 | g.64230800T>C | CA450758891 | EYS | c.6216A>G (p.Pro2072=) |