| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.64230687T>A | CA364391343 | EYS | c.6329A>T (p.Asn2110Ile) | |
| 6 | g.64230687T>C | CA364391341 | EYS | c.6329A>G (p.Asn2110Ser) | gnomAD v4 |
| 6 | g.64230687T>G | CA364391342 | EYS | c.6329A>C (p.Asn2110Thr) | |
| 6 | g.64230688T>A | CA364391344 | EYS | c.6328A>T (p.Asn2110Tyr) | |
| 6 | g.64230688T>C | CA364391345 | EYS | c.6328A>G (p.Asn2110Asp) | |
| 6 | g.64230688T>G | CA364391346 | EYS | c.6328A>C (p.Asn2110His) | |
| 6 | g.64230689G>A | CA450758811 | EYS | c.6327C>T (p.His2109=) | dbSNP |
| 6 | g.64230689G>C | CA364391347 | EYS | c.6327C>G (p.His2109Gln) | |
| 6 | g.64230689G= | CA1633626658 | EYS | c.6327C= (p.His2109=) | |
| 6 | g.64230689G>T | CA364391348 | EYS | c.6327C>A (p.His2109Gln) | |
| 6 | g.64230690T>A | CA364391349 | EYS | c.6326A>T (p.His2109Leu) | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.64230690T>C | CA364391350 | EYS | c.6326A>G (p.His2109Arg) | |
| 6 | g.64230690T>G | CA364391351 | EYS | c.6326A>C (p.His2109Pro) | |
| 6 | g.64230690T= | CA1633626659 | EYS | c.6326A= (p.His2109=) | |
| 6 | g.64230691G>A | CA364391352 | EYS | c.6325C>T (p.His2109Tyr) | |
| 6 | g.64230691G>C | CA364391353 | EYS | c.6325C>G (p.His2109Asp) | |
| 6 | g.64230691G>T | CA364391354 | EYS | c.6325C>A (p.His2109Asn) | |
| 6 | g.64230692G>A | CA450758812 | EYS | c.6324C>T (p.Cys2108=) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230692G>C | CA364391356 | EYS | c.6324C>G (p.Cys2108Trp) | |
| 6 | g.64230692G= | CA1633626660 | EYS | c.6324C= (p.Cys2108=) | |
| 6 | g.64230692G>T | CA364391355 | EYS | c.6324C>A (p.Cys2108Ter) | ClinVar dbSNP gnomAD v4 |
| 6 | g.64230693C>A | CA364391357 | EYS | c.6323G>T (p.Cys2108Phe) | |
| 6 | g.64230693C= | CA1633626661 | EYS | c.6323G= (p.Cys2108=) | |
| 6 | g.64230693C>G | CA364391358 | EYS | c.6323G>C (p.Cys2108Ser) | |
| 6 | g.64230693C>T | CA3876928 | EYS | c.6323G>A (p.Cys2108Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230694A= | CA1633626662 | EYS | c.6322T= (p.Cys2108=) | |
| 6 | g.64230694A>C | CA364391359 | EYS | c.6322T>G (p.Cys2108Gly) | |
| 6 | g.64230694A>G | CA364391360 | EYS | c.6322T>C (p.Cys2108Arg) | ClinVar dbSNP |
| 6 | g.64230694A>T | CA364391361 | EYS | c.6322T>A (p.Cys2108Ser) | |
| 6 | g.64230695T>A | CA450758813 | EYS | c.6321A>T (p.Val2107=) | gnomAD v4 |
| 6 | g.64230695T>C | CA450758814 | EYS | c.6321A>G (p.Val2107=) | |
| 6 | g.64230695T>G | CA450758815 | EYS | c.6321A>C (p.Val2107=) | |
| 6 | g.64230696A>C | CA364391362 | EYS | c.6320T>G (p.Val2107Gly) | |
| 6 | g.64230696A>G | CA364391363 | EYS | c.6320T>C (p.Val2107Ala) | |
| 6 | g.64230696A>T | CA364391364 | EYS | c.6320T>A (p.Val2107Glu) | |
| 6 | g.64230697C>A | CA364391365 | EYS | c.6319G>T (p.Val2107Leu) | |
| 6 | g.64230697C= | CA1633626663 | EYS | c.6319G= (p.Val2107=) | |
| 6 | g.64230697C>G | CA364391366 | EYS | c.6319G>C (p.Val2107Leu) | |
| 6 | g.64230697C>T | CA364391367 | EYS | c.6319G>A (p.Val2107Ile) | dbSNP gnomAD v4 |
| 6 | g.64230698A= | CA1633626664 | EYS | c.6318T= (p.Asp2106=) | |
| 6 | g.64230698A>C | CA364391369 | EYS | c.6318T>G (p.Asp2106Glu) | |
| 6 | g.64230698A>G | CA3876929 | EYS | c.6318T>C (p.Asp2106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230698A>T | CA364391368 | EYS | c.6318T>A (p.Asp2106Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.64230699T>A | CA364391370 | EYS | c.6317A>T (p.Asp2106Val) | |
| 6 | g.64230699T>C | CA364391371 | EYS | c.6317A>G (p.Asp2106Gly) | dbSNP |
| 6 | g.64230699T>G | CA364391372 | EYS | c.6317A>C (p.Asp2106Ala) | |
| 6 | g.64230699T= | CA1633626665 | EYS | c.6317A= (p.Asp2106=) | |
| 6 | g.64230700C>A | CA3876930 | EYS | c.6316G>T (p.Asp2106Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.64230700C= | CA1633626666 | EYS | c.6316G= (p.Asp2106=) | |
| 6 | g.64230700C>G | CA364391373 | EYS | c.6316G>C (p.Asp2106His) |