Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.64230599A>C | CA364391150 | EYS | c.6417T>G (p.Cys2139Trp) | |
6 | g.64230599A>G | CA450758748 | EYS | c.6417T>C (p.Cys2139=) | |
6 | g.64230599A>T | CA364391151 | EYS | c.6417T>A (p.Cys2139Ter) | |
6 | g.64230600C>A | CA364391152 | EYS | c.6416G>T (p.Cys2139Phe) | |
6 | g.64230600C= | CA1633626627 | EYS | c.6416G= (p.Cys2139=) | |
6 | g.64230600C>G | CA364391153 | EYS | c.6416G>C (p.Cys2139Ser) | |
6 | g.64230600C>T | CA199162 | EYS | c.6416G>A (p.Cys2139Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230601A= | CA1633626628 | EYS | c.6415T= (p.Cys2139=) | |
6 | g.64230601A>C | CA364391154 | EYS | c.6415T>G (p.Cys2139Gly) | |
6 | g.64230601A>G | CA364391155 | EYS | c.6415T>C (p.Cys2139Arg) | ClinVar dbSNP |
6 | g.64230601A>T | CA364391156 | EYS | c.6415T>A (p.Cys2139Ser) | |
6 | g.64230601_64230612del | CA2679283466 | EYS | c.6404_6415del (p.Thr2135_Cys2139delinsSer) | ClinVar gnomAD v4 |
6 | g.64230602G>A | CA450758749 | EYS | c.6414C>T (p.Phe2138=) | ClinVar gnomAD v4 |
6 | g.64230602G>C | CA364391157 | EYS | c.6414C>G (p.Phe2138Leu) | |
6 | g.64230602G>T | CA364391158 | EYS | c.6414C>A (p.Phe2138Leu) | |
6 | g.64230603A>C | CA364391161 | EYS | c.6413T>G (p.Phe2138Cys) | |
6 | g.64230603A>G | CA364391160 | EYS | c.6413T>C (p.Phe2138Ser) | gnomAD v4 |
6 | g.64230603A>T | CA364391159 | EYS | c.6413T>A (p.Phe2138Tyr) | |
6 | g.64230604A= | CA1633626629 | EYS | c.6412T= (p.Phe2138=) | |
6 | g.64230604A>C | CA364391162 | EYS | c.6412T>G (p.Phe2138Val) | |
6 | g.64230604A>G | CA364391163 | EYS | c.6412T>C (p.Phe2138Leu) | dbSNP gnomAD v2 gnomAD v4 |
6 | g.64230604A>T | CA364391164 | EYS | c.6412T>A (p.Phe2138Ile) | |
6 | g.64230605G>A | CA450758752 | EYS | c.6411C>T (p.Arg2137=) | |
6 | g.64230605G>C | CA450758751 | EYS | c.6411C>G (p.Arg2137=) | |
6 | g.64230605G>T | CA450758750 | EYS | c.6411C>A (p.Arg2137=) | |
6 | g.64230606C>A | CA364391165 | EYS | c.6410G>T (p.Arg2137Leu) | gnomAD v4 |
6 | g.64230606C= | CA1633626630 | EYS | c.6410G= (p.Arg2137=) | |
6 | g.64230606C>G | CA364391166 | EYS | c.6410G>C (p.Arg2137Pro) | |
6 | g.64230606C>T | CA140296089 | EYS | c.6410G>A (p.Arg2137His) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>A | CA3876922 | EYS | c.6409C>T (p.Arg2137Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230607G>C | CA364391167 | EYS | c.6409C>G (p.Arg2137Gly) | |
6 | g.64230607G= | CA1633626631 | EYS | c.6409C= (p.Arg2137=) | |
6 | g.64230607G>T | CA364391168 | EYS | c.6409C>A (p.Arg2137Ser) | |
6 | g.64230608G>A | CA450758753 | EYS | c.6408C>T (p.Gly2136=) | ClinVar |
6 | g.64230608G>C | CA450758754 | EYS | c.6408C>G (p.Gly2136=) | gnomAD v4 |
6 | g.64230608G>T | CA450758755 | EYS | c.6408C>A (p.Gly2136=) | |
6 | g.64230609C>A | CA364391169 | EYS | c.6407G>T (p.Gly2136Val) | |
6 | g.64230609C= | CA1633626632 | EYS | c.6407G= (p.Gly2136=) | |
6 | g.64230609C>G | CA364391170 | EYS | c.6407G>C (p.Gly2136Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
6 | g.64230609C>T | CA364391171 | EYS | c.6407G>A (p.Gly2136Asp) | gnomAD v4 |
6 | g.64230610C>A | CA364391173 | EYS | c.6406G>T (p.Gly2136Cys) | |
6 | g.64230610C>G | CA364391174 | EYS | c.6406G>C (p.Gly2136Arg) | |
6 | g.64230610C>T | CA364391172 | EYS | c.6406G>A (p.Gly2136Ser) | |
6 | g.64230611A= | CA1633626633 | EYS | c.6405T= (p.Thr2135=) | |
6 | g.64230611A>C | CA450758757 | EYS | c.6405T>G (p.Thr2135=) | |
6 | g.64230611A>G | CA450758758 | EYS | c.6405T>C (p.Thr2135=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.64230611A>T | CA450758759 | EYS | c.6405T>A (p.Thr2135=) | |
6 | g.64230612G>A | CA364391175 | EYS | c.6404C>T (p.Thr2135Ile) | |
6 | g.64230612G>C | CA364391176 | EYS | c.6404C>G (p.Thr2135Ser) | |
6 | g.64230612G>T | CA364391177 | EYS | c.6404C>A (p.Thr2135Asn) | gnomAD v4 |