UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71211212_71211213insGCACCATCTAGAAATGCTCACCTTTTTTGCTCCTTGTTCTTCTTCTACACCATCTCCTATAACAACATACACCACTTT | CA2687599352 | EYA1 | c.1698+9_1698+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1596+9_1596+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1593+9_1593+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.*977+9_*977+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.2161+9_2161+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.*1375+9_*1375+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1785+9_1785+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1680+9_1680+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.768+9_768+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1677+9_1677+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1599+9_1599+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1695+9_1695+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT n.2193+9_2193+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1332+9_1332+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1769+10_1769+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1784+10_1784+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1683+9_1683+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1697+10_1697+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1694+10_1694+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1634+10_1634+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1598+10_1598+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1346+10_1346+11insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1770+9_1770+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1782+9_1782+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1767+9_1767+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1635+9_1635+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT c.1347+9_1347+10insTCTAGATGGTGCAAAGTGGTGTATGTTGTTATAGGAGATGGTGTAGAAGAAGAACAAGGAGCAAAAAAGGTGAGCATT | gnomAD v4 |
| 8 | g.71211155_71211159delinsCCTTT | CA1792681539 | EYA1 | c.1695_1698+1delinsAAAGG c.1593_1596+1delinsAAAGG c.1590_1593+1delinsAAAGG c.*974_*977+1delinsAAAGG n.2158_2161+1delinsAAAGG c.*1372_*1375+1delinsAAAGG c.1782_1785+1delinsAAAGG c.1677_1680+1delinsAAAGG n.765_768+1delinsAAAGG c.1674_1677+1delinsAAAGG c.1596_1599+1delinsAAAGG c.1692_1695+1delinsAAAGG n.2190_2193+1delinsAAAGG c.1329_1332+1delinsAAAGG c.1767_1769+2delinsAAAGG c.1782_1784+2delinsAAAGG c.1680_1683+1delinsAAAGG c.1695_1697+2delinsAAAGG c.1692_1694+2delinsAAAGG c.1632_1634+2delinsAAAGG c.1596_1598+2delinsAAAGG c.1344_1346+2delinsAAAGG c.1767_1770+1delinsAAAGG c.1779_1782+1delinsAAAGG c.1764_1767+1delinsAAAGG c.1632_1635+1delinsAAAGG c.1344_1347+1delinsAAAGG | |
| 8 | g.71211156C>A | CA371465805 | EYA1 | c.1698G>T (p.Lys566Asn) c.1596G>T (p.Lys532Asn) c.1593G>T (p.Lys531Asn) c.*977G>T (n.*977G>T) n.2161G>T c.*1375G>T (n.*1375G>T) c.1785G>T (p.Lys595Asn) c.1680G>T (p.Lys560Asn) n.768G>T c.1677G>T (p.Lys559Asn) c.1599G>T (p.Lys533Asn) c.1695G>T (p.Lys565Asn) n.2193G>T c.1332G>T (p.Lys444Asn) c.1769+1G>T (n.1769+1G>T) c.1784+1G>T (n.1784+1G>T) c.1683G>T (p.Lys561Asn) c.1697+1G>T (n.1697+1G>T) c.1694+1G>T (n.1694+1G>T) c.1634+1G>T (n.1634+1G>T) c.1598+1G>T (n.1598+1G>T) c.1346+1G>T (n.1346+1G>T) c.1770G>T (p.Lys590Asn) c.1782G>T (p.Lys594Asn) c.1767G>T (p.Lys589Asn) c.1635G>T (p.Lys545Asn) c.1347G>T (p.Lys449Asn) | |
| 8 | g.71211156C= | CA1792681544 | EYA1 | c.1698G= (p.Lys566=) c.1596G= (p.Lys532=) c.1593G= (p.Lys531=) c.*977G= (n.*977G=) n.2161G= c.*1375G= (n.*1375G=) c.1785G= (p.Lys595=) c.1680G= (p.Lys560=) n.768G= c.1677G= (p.Lys559=) c.1599G= (p.Lys533=) c.1695G= (p.Lys565=) n.2193G= c.1332G= (p.Lys444=) c.1769+1G= (n.1769+1G=) c.1784+1G= (n.1784+1G=) c.1683G= (p.Lys561=) c.1697+1G= (n.1697+1G=) c.1694+1G= (n.1694+1G=) c.1634+1G= (n.1634+1G=) c.1598+1G= (n.1598+1G=) c.1346+1G= (n.1346+1G=) c.1770G= (p.Lys590=) c.1782G= (p.Lys594=) c.1767G= (p.Lys589=) c.1635G= (p.Lys545=) c.1347G= (p.Lys449=) | |
| 8 | g.71211156C>G | CA371465806 | EYA1 | c.1698G>C (p.Lys566Asn) c.1596G>C (p.Lys532Asn) c.1593G>C (p.Lys531Asn) c.*977G>C (n.*977G>C) n.2161G>C c.*1375G>C (n.*1375G>C) c.1785G>C (p.Lys595Asn) c.1680G>C (p.Lys560Asn) n.768G>C c.1677G>C (p.Lys559Asn) c.1599G>C (p.Lys533Asn) c.1695G>C (p.Lys565Asn) n.2193G>C c.1332G>C (p.Lys444Asn) c.1769+1G>C (n.1769+1G>C) c.1784+1G>C (n.1784+1G>C) c.1683G>C (p.Lys561Asn) c.1697+1G>C (n.1697+1G>C) c.1694+1G>C (n.1694+1G>C) c.1634+1G>C (n.1634+1G>C) c.1598+1G>C (n.1598+1G>C) c.1346+1G>C (n.1346+1G>C) c.1770G>C (p.Lys590Asn) c.1782G>C (p.Lys594Asn) c.1767G>C (p.Lys589Asn) c.1635G>C (p.Lys545Asn) c.1347G>C (p.Lys449Asn) | |
| 8 | g.71211156C>T | CA461323665 | EYA1 | c.1698G>A (p.Lys566=) c.1596G>A (p.Lys532=) c.1593G>A (p.Lys531=) c.*977G>A (n.*977G>A) n.2161G>A c.*1375G>A (n.*1375G>A) c.1785G>A (p.Lys595=) c.1680G>A (p.Lys560=) n.768G>A c.1677G>A (p.Lys559=) c.1599G>A (p.Lys533=) c.1695G>A (p.Lys565=) n.2193G>A c.1332G>A (p.Lys444=) c.1769+1G>A (n.1769+1G>A) c.1784+1G>A (n.1784+1G>A) c.1683G>A (p.Lys561=) c.1697+1G>A (n.1697+1G>A) c.1694+1G>A (n.1694+1G>A) c.1634+1G>A (n.1634+1G>A) c.1598+1G>A (n.1598+1G>A) c.1346+1G>A (n.1346+1G>A) c.1770G>A (p.Lys590=) c.1782G>A (p.Lys594=) c.1767G>A (p.Lys589=) c.1635G>A (p.Lys545=) c.1347G>A (p.Lys449=) | COSMIC COSMIC |
| 8 | g.71211156_71211159del | CA254270 | EYA1 | c.1695_1698del (p.Lys565AsnfsTer?) c.1593_1596del (p.Lys531AsnfsTer?) c.1590_1593del (p.Lys530AsnfsTer?) c.*974_*977del (n.*974_*977del) n.2158_2161del c.*1372_*1375del (n.*1372_*1375del) c.1782_1785del (p.Lys594AsnfsTer?) c.1677_1680del (p.Lys559AsnfsTer?) n.765_768del c.1674_1677del (p.Lys558AsnfsTer?) c.1596_1599del (p.Lys532AsnfsTer?) c.1692_1695del (p.Lys564AsnfsTer?) n.2190_2193del c.1329_1332del (p.Lys443AsnfsTer?) c.1767_1769+1del c.1782_1784+1del c.1680_1683del (p.Lys560AsnfsTer?) c.1695_1697+1del c.1692_1694+1del c.1632_1634+1del c.1596_1598+1del c.1344_1346+1del c.1767_1770del (p.Lys589AsnfsTer?) c.1779_1782del (p.Lys593AsnfsTer?) c.1764_1767del (p.Lys588AsnfsTer?) c.1782_1785del (p.Lys595SerfsTer22) c.1632_1635del (p.Lys544AsnfsTer?) c.1344_1347del (p.Lys448AsnfsTer?) | ClinVar dbSNP |
| 8 | g.71211156_71211157insA | CA262037 | EYA1 | c.1697_1698insT (p.Lys566AsnfsTer?) c.1595_1596insT (p.Lys532AsnfsTer?) c.1592_1593insT (p.Lys531AsnfsTer?) c.*976_*977insT (n.*976_*977insT) n.2160_2161insT c.*1374_*1375insT (n.*1374_*1375insT) c.1784_1785insT (p.Lys595AsnfsTer?) c.1679_1680insT (p.Lys560AsnfsTer?) n.767_768insT c.1676_1677insT (p.Lys559AsnfsTer?) c.1598_1599insT (p.Lys533AsnfsTer?) c.1694_1695insT (p.Lys565AsnfsTer?) n.2192_2193insT c.1331_1332insT (p.Lys444AsnfsTer?) c.1769_1769+1insT (n.1769_1769+1insT) c.1784_1784+1insT (n.1784_1784+1insT) c.1682_1683insT (p.Lys561AsnfsTer?) c.1697_1697+1insT (n.1697_1697+1insT) c.1694_1694+1insT (n.1694_1694+1insT) c.1634_1634+1insT (n.1634_1634+1insT) c.1598_1598+1insT (n.1598_1598+1insT) c.1346_1346+1insT (n.1346_1346+1insT) c.1769_1770insT (p.Lys590AsnfsTer?) c.1781_1782insT (p.Lys594AsnfsTer?) c.1766_1767insT (p.Lys589AsnfsTer?) c.1784_1785insT (p.Lys595AsnfsTer4) c.1634_1635insT (p.Lys545AsnfsTer?) c.1346_1347insT (p.Lys449AsnfsTer?) | ClinVar dbSNP |
| 8 | g.71211157T>A | CA371465808 | EYA1 | c.1697A>T (p.Lys566Met) c.1595A>T (p.Lys532Met) c.1592A>T (p.Lys531Met) c.*976A>T (n.*976A>T) n.2160A>T c.*1374A>T (n.*1374A>T) c.1784A>T (p.Lys595Met) c.1679A>T (p.Lys560Met) n.767A>T c.1676A>T (p.Lys559Met) c.1598A>T (p.Lys533Met) c.1694A>T (p.Lys565Met) n.2192A>T c.1331A>T (p.Lys444Met) c.1769A>T (p.Lys590Ile) c.1784A>T (p.Lys595Ile) c.1682A>T (p.Lys561Met) c.1697A>T (p.Lys566Ile) c.1694A>T (p.Lys565Ile) c.1634A>T (p.Lys545Ile) c.1598A>T (p.Lys533Ile) c.1346A>T (p.Lys449Ile) c.1769A>T (p.Lys590Met) c.1781A>T (p.Lys594Met) c.1766A>T (p.Lys589Met) c.1634A>T (p.Lys545Met) c.1346A>T (p.Lys449Met) | |
| 8 | g.71211157T>C | CA371465807 | EYA1 | c.1697A>G (p.Lys566Arg) c.1595A>G (p.Lys532Arg) c.1592A>G (p.Lys531Arg) c.*976A>G (n.*976A>G) n.2160A>G c.*1374A>G (n.*1374A>G) c.1784A>G (p.Lys595Arg) c.1679A>G (p.Lys560Arg) n.767A>G c.1676A>G (p.Lys559Arg) c.1598A>G (p.Lys533Arg) c.1694A>G (p.Lys565Arg) n.2192A>G c.1331A>G (p.Lys444Arg) c.1769A>G (p.Lys590Arg) c.1682A>G (p.Lys561Arg) c.1634A>G (p.Lys545Arg) c.1346A>G (p.Lys449Arg) c.1781A>G (p.Lys594Arg) c.1766A>G (p.Lys589Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71211157T>G | CA4779390 | EYA1 | c.1697A>C (p.Lys566Thr) c.1595A>C (p.Lys532Thr) c.1592A>C (p.Lys531Thr) c.*976A>C (n.*976A>C) n.2160A>C c.*1374A>C (n.*1374A>C) c.1784A>C (p.Lys595Thr) c.1679A>C (p.Lys560Thr) n.767A>C c.1676A>C (p.Lys559Thr) c.1598A>C (p.Lys533Thr) c.1694A>C (p.Lys565Thr) n.2192A>C c.1331A>C (p.Lys444Thr) c.1769A>C (p.Lys590Thr) c.1682A>C (p.Lys561Thr) c.1634A>C (p.Lys545Thr) c.1346A>C (p.Lys449Thr) c.1781A>C (p.Lys594Thr) c.1766A>C (p.Lys589Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71211157T= | CA1792681550 | EYA1 | c.1697A= (p.Lys566=) c.1595A= (p.Lys532=) c.1592A= (p.Lys531=) c.*976A= (n.*976A=) n.2160A= c.*1374A= (n.*1374A=) c.1784A= (p.Lys595=) c.1679A= (p.Lys560=) n.767A= c.1676A= (p.Lys559=) c.1598A= (p.Lys533=) c.1694A= (p.Lys565=) n.2192A= c.1331A= (p.Lys444=) c.1769A= (p.Lys590=) c.1682A= (p.Lys561=) c.1634A= (p.Lys545=) c.1346A= (p.Lys449=) c.1781A= (p.Lys594=) c.1766A= (p.Lys589=) | |
| 8 | g.71211162dup | CA2687599357 | EYA1 | c.1697dup (p.His567AlafsTer?) c.1595dup (p.His533AlafsTer?) c.1592dup (p.His532AlafsTer?) c.*976dup (n.*976dup) n.2160dup c.*1374dup (n.*1374dup) c.1784dup (p.His596AlafsTer?) c.1679dup (p.His561AlafsTer?) n.767dup c.1676dup (p.His560AlafsTer?) c.1598dup (p.His534AlafsTer?) c.1694dup (p.His566AlafsTer?) n.2192dup c.1331dup (p.His445AlafsTer?) c.1769dup (p.Ala591SerfsTer?) c.1784dup (p.Ala596SerfsTer?) c.1682dup (p.His562AlafsTer?) c.1697dup (p.Ala567SerfsTer?) c.1694dup (p.Ala566SerfsTer?) c.1634dup (p.Ala546SerfsTer?) c.1598dup (p.Ala534SerfsTer?) c.1346dup (p.Ala450SerfsTer?) c.1769dup (p.His591AlafsTer?) c.1781dup (p.His595AlafsTer?) c.1766dup (p.His590AlafsTer?) c.1784dup (p.Val596GlyfsTer3) c.1634dup (p.His546AlafsTer?) c.1346dup (p.His450AlafsTer?) | gnomAD v4 |
| 8 | g.71211162del | CA461323666 | EYA1 | c.1697del (p.Lys566SerfsTer?) c.1595del (p.Lys532SerfsTer?) c.1592del (p.Lys531SerfsTer?) c.*976del (n.*976del) n.2160del c.*1374del (n.*1374del) c.1784del (p.Lys595SerfsTer?) c.1679del (p.Lys560SerfsTer?) n.767del c.1676del (p.Lys559SerfsTer?) c.1598del (p.Lys533SerfsTer?) c.1694del (p.Lys565SerfsTer?) n.2192del c.1331del (p.Lys444SerfsTer?) c.1769del (p.Ala591HisfsTer27) c.1784del (p.Ala596HisfsTer27) c.1682del (p.Lys561SerfsTer?) c.1697del (p.Ala567HisfsTer27) c.1694del (p.Ala566HisfsTer27) c.1634del (p.Ala546HisfsTer27) c.1598del (p.Ala534HisfsTer27) c.1346del (p.Ala450HisfsTer27) c.1769del (p.Lys590SerfsTer?) c.1781del (p.Lys594SerfsTer?) c.1766del (p.Lys589SerfsTer?) c.1784del (p.Lys595ArgfsTer23) c.1634del (p.Lys545SerfsTer?) c.1346del (p.Lys449SerfsTer?) | gnomAD v4 |
| 8 | g.71211158T>A | CA371465811 | EYA1 | c.1696A>T (p.Lys566Ter) c.1594A>T (p.Lys532Ter) c.1591A>T (p.Lys531Ter) c.*975A>T (n.*975A>T) n.2159A>T c.*1373A>T (n.*1373A>T) c.1783A>T (p.Lys595Ter) c.1678A>T (p.Lys560Ter) n.766A>T c.1675A>T (p.Lys559Ter) c.1597A>T (p.Lys533Ter) c.1693A>T (p.Lys565Ter) n.2191A>T c.1330A>T (p.Lys444Ter) c.1768A>T (p.Lys590Ter) c.1681A>T (p.Lys561Ter) c.1633A>T (p.Lys545Ter) c.1345A>T (p.Lys449Ter) c.1780A>T (p.Lys594Ter) c.1765A>T (p.Lys589Ter) | |
| 8 | g.71211158T>C | CA371465809 | EYA1 | c.1696A>G (p.Lys566Glu) c.1594A>G (p.Lys532Glu) c.1591A>G (p.Lys531Glu) c.*975A>G (n.*975A>G) n.2159A>G c.*1373A>G (n.*1373A>G) c.1783A>G (p.Lys595Glu) c.1678A>G (p.Lys560Glu) n.766A>G c.1675A>G (p.Lys559Glu) c.1597A>G (p.Lys533Glu) c.1693A>G (p.Lys565Glu) n.2191A>G c.1330A>G (p.Lys444Glu) c.1768A>G (p.Lys590Glu) c.1681A>G (p.Lys561Glu) c.1633A>G (p.Lys545Glu) c.1345A>G (p.Lys449Glu) c.1780A>G (p.Lys594Glu) c.1765A>G (p.Lys589Glu) | |
| 8 | g.71211158T>G | CA371465810 | EYA1 | c.1696A>C (p.Lys566Gln) c.1594A>C (p.Lys532Gln) c.1591A>C (p.Lys531Gln) c.*975A>C (n.*975A>C) n.2159A>C c.*1373A>C (n.*1373A>C) c.1783A>C (p.Lys595Gln) c.1678A>C (p.Lys560Gln) n.766A>C c.1675A>C (p.Lys559Gln) c.1597A>C (p.Lys533Gln) c.1693A>C (p.Lys565Gln) n.2191A>C c.1330A>C (p.Lys444Gln) c.1768A>C (p.Lys590Gln) c.1681A>C (p.Lys561Gln) c.1633A>C (p.Lys545Gln) c.1345A>C (p.Lys449Gln) c.1780A>C (p.Lys594Gln) c.1765A>C (p.Lys589Gln) | |
| 8 | g.71211159T>A | CA371465812 | EYA1 | c.1695A>T (p.Lys565Asn) c.1593A>T (p.Lys531Asn) c.1590A>T (p.Lys530Asn) c.*974A>T (n.*974A>T) n.2158A>T c.*1372A>T (n.*1372A>T) c.1782A>T (p.Lys594Asn) c.1677A>T (p.Lys559Asn) n.765A>T c.1674A>T (p.Lys558Asn) c.1596A>T (p.Lys532Asn) c.1692A>T (p.Lys564Asn) n.2190A>T c.1329A>T (p.Lys443Asn) c.1767A>T (p.Lys589Asn) c.1680A>T (p.Lys560Asn) c.1632A>T (p.Lys544Asn) c.1344A>T (p.Lys448Asn) c.1779A>T (p.Lys593Asn) c.1764A>T (p.Lys588Asn) | |
| 8 | g.71211159T>C | CA461323667 | EYA1 | c.1695A>G (p.Lys565=) c.1593A>G (p.Lys531=) c.1590A>G (p.Lys530=) c.*974A>G (n.*974A>G) n.2158A>G c.*1372A>G (n.*1372A>G) c.1782A>G (p.Lys594=) c.1677A>G (p.Lys559=) n.765A>G c.1674A>G (p.Lys558=) c.1596A>G (p.Lys532=) c.1692A>G (p.Lys564=) n.2190A>G c.1329A>G (p.Lys443=) c.1767A>G (p.Lys589=) c.1680A>G (p.Lys560=) c.1632A>G (p.Lys544=) c.1344A>G (p.Lys448=) c.1779A>G (p.Lys593=) c.1764A>G (p.Lys588=) | |
| 8 | g.71211159T>G | CA371465813 | EYA1 | c.1695A>C (p.Lys565Asn) c.1593A>C (p.Lys531Asn) c.1590A>C (p.Lys530Asn) c.*974A>C (n.*974A>C) n.2158A>C c.*1372A>C (n.*1372A>C) c.1782A>C (p.Lys594Asn) c.1677A>C (p.Lys559Asn) n.765A>C c.1674A>C (p.Lys558Asn) c.1596A>C (p.Lys532Asn) c.1692A>C (p.Lys564Asn) n.2190A>C c.1329A>C (p.Lys443Asn) c.1767A>C (p.Lys589Asn) c.1680A>C (p.Lys560Asn) c.1632A>C (p.Lys544Asn) c.1344A>C (p.Lys448Asn) c.1779A>C (p.Lys593Asn) c.1764A>C (p.Lys588Asn) | |
| 8 | g.71211160T>A | CA371465814 | EYA1 | c.1694A>T (p.Lys565Ile) c.1592A>T (p.Lys531Ile) c.1589A>T (p.Lys530Ile) c.*973A>T (n.*973A>T) n.2157A>T c.*1371A>T (n.*1371A>T) c.1781A>T (p.Lys594Ile) c.1676A>T (p.Lys559Ile) n.764A>T c.1673A>T (p.Lys558Ile) c.1595A>T (p.Lys532Ile) c.1691A>T (p.Lys564Ile) n.2189A>T c.1328A>T (p.Lys443Ile) c.1766A>T (p.Lys589Ile) c.1679A>T (p.Lys560Ile) c.1631A>T (p.Lys544Ile) c.1343A>T (p.Lys448Ile) c.1778A>T (p.Lys593Ile) c.1763A>T (p.Lys588Ile) | dbSNP |
| 8 | g.71211160T>C | CA371465815 | EYA1 | c.1694A>G (p.Lys565Arg) c.1592A>G (p.Lys531Arg) c.1589A>G (p.Lys530Arg) c.*973A>G (n.*973A>G) n.2157A>G c.*1371A>G (n.*1371A>G) c.1781A>G (p.Lys594Arg) c.1676A>G (p.Lys559Arg) n.764A>G c.1673A>G (p.Lys558Arg) c.1595A>G (p.Lys532Arg) c.1691A>G (p.Lys564Arg) n.2189A>G c.1328A>G (p.Lys443Arg) c.1766A>G (p.Lys589Arg) c.1679A>G (p.Lys560Arg) c.1631A>G (p.Lys544Arg) c.1343A>G (p.Lys448Arg) c.1778A>G (p.Lys593Arg) c.1763A>G (p.Lys588Arg) | |
| 8 | g.71211160T>G | CA371465816 | EYA1 | c.1694A>C (p.Lys565Thr) c.1592A>C (p.Lys531Thr) c.1589A>C (p.Lys530Thr) c.*973A>C (n.*973A>C) n.2157A>C c.*1371A>C (n.*1371A>C) c.1781A>C (p.Lys594Thr) c.1676A>C (p.Lys559Thr) n.764A>C c.1673A>C (p.Lys558Thr) c.1595A>C (p.Lys532Thr) c.1691A>C (p.Lys564Thr) n.2189A>C c.1328A>C (p.Lys443Thr) c.1766A>C (p.Lys589Thr) c.1679A>C (p.Lys560Thr) c.1631A>C (p.Lys544Thr) c.1343A>C (p.Lys448Thr) c.1778A>C (p.Lys593Thr) c.1763A>C (p.Lys588Thr) | |
| 8 | g.71211160T= | CA1792681553 | EYA1 | c.1694A= (p.Lys565=) c.1592A= (p.Lys531=) c.1589A= (p.Lys530=) c.*973A= (n.*973A=) n.2157A= c.*1371A= (n.*1371A=) c.1781A= (p.Lys594=) c.1676A= (p.Lys559=) n.764A= c.1673A= (p.Lys558=) c.1595A= (p.Lys532=) c.1691A= (p.Lys564=) n.2189A= c.1328A= (p.Lys443=) c.1766A= (p.Lys589=) c.1679A= (p.Lys560=) c.1631A= (p.Lys544=) c.1343A= (p.Lys448=) c.1778A= (p.Lys593=) c.1763A= (p.Lys588=) | |
| 8 | g.71211161T>A | CA371465817 | EYA1 | c.1693A>T (p.Lys565Ter) c.1591A>T (p.Lys531Ter) c.1588A>T (p.Lys530Ter) c.*972A>T (n.*972A>T) n.2156A>T c.*1370A>T (n.*1370A>T) c.1780A>T (p.Lys594Ter) c.1675A>T (p.Lys559Ter) n.763A>T c.1672A>T (p.Lys558Ter) c.1594A>T (p.Lys532Ter) c.1690A>T (p.Lys564Ter) n.2188A>T c.1327A>T (p.Lys443Ter) c.1765A>T (p.Lys589Ter) c.1678A>T (p.Lys560Ter) c.1630A>T (p.Lys544Ter) c.1342A>T (p.Lys448Ter) c.1777A>T (p.Lys593Ter) c.1762A>T (p.Lys588Ter) | |
| 8 | g.71211161T>C | CA371465818 | EYA1 | c.1693A>G (p.Lys565Glu) c.1591A>G (p.Lys531Glu) c.1588A>G (p.Lys530Glu) c.*972A>G (n.*972A>G) n.2156A>G c.*1370A>G (n.*1370A>G) c.1780A>G (p.Lys594Glu) c.1675A>G (p.Lys559Glu) n.763A>G c.1672A>G (p.Lys558Glu) c.1594A>G (p.Lys532Glu) c.1690A>G (p.Lys564Glu) n.2188A>G c.1327A>G (p.Lys443Glu) c.1765A>G (p.Lys589Glu) c.1678A>G (p.Lys560Glu) c.1630A>G (p.Lys544Glu) c.1342A>G (p.Lys448Glu) c.1777A>G (p.Lys593Glu) c.1762A>G (p.Lys588Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71211161T>G | CA371465819 | EYA1 | c.1693A>C (p.Lys565Gln) c.1591A>C (p.Lys531Gln) c.1588A>C (p.Lys530Gln) c.*972A>C (n.*972A>C) n.2156A>C c.*1370A>C (n.*1370A>C) c.1780A>C (p.Lys594Gln) c.1675A>C (p.Lys559Gln) n.763A>C c.1672A>C (p.Lys558Gln) c.1594A>C (p.Lys532Gln) c.1690A>C (p.Lys564Gln) n.2188A>C c.1327A>C (p.Lys443Gln) c.1765A>C (p.Lys589Gln) c.1678A>C (p.Lys560Gln) c.1630A>C (p.Lys544Gln) c.1342A>C (p.Lys448Gln) c.1777A>C (p.Lys593Gln) c.1762A>C (p.Lys588Gln) | |
| 8 | g.71211161T= | CA1792681555 | EYA1 | c.1693A= (p.Lys565=) c.1591A= (p.Lys531=) c.1588A= (p.Lys530=) c.*972A= (n.*972A=) n.2156A= c.*1370A= (n.*1370A=) c.1780A= (p.Lys594=) c.1675A= (p.Lys559=) n.763A= c.1672A= (p.Lys558=) c.1594A= (p.Lys532=) c.1690A= (p.Lys564=) n.2188A= c.1327A= (p.Lys443=) c.1765A= (p.Lys589=) c.1678A= (p.Lys560=) c.1630A= (p.Lys544=) c.1342A= (p.Lys448=) c.1777A= (p.Lys593=) c.1762A= (p.Lys588=) | |
| 8 | g.71211162T>A | CA461323668 | EYA1 | c.1692A>T (p.Ala564=) c.1590A>T (p.Ala530=) c.1587A>T (p.Ala529=) c.*971A>T (n.*971A>T) n.2155A>T c.*1369A>T (n.*1369A>T) c.1779A>T (p.Ala593=) c.1674A>T (p.Ala558=) n.762A>T c.1671A>T (p.Ala557=) c.1593A>T (p.Ala531=) c.1689A>T (p.Ala563=) n.2187A>T c.1326A>T (p.Ala442=) c.1764A>T (p.Ala588=) c.1677A>T (p.Ala559=) c.1629A>T (p.Ala543=) c.1341A>T (p.Ala447=) c.1776A>T (p.Ala592=) c.1761A>T (p.Ala587=) | |
| 8 | g.71211162T>C | CA461323669 | EYA1 | c.1692A>G (p.Ala564=) c.1590A>G (p.Ala530=) c.1587A>G (p.Ala529=) c.*971A>G (n.*971A>G) n.2155A>G c.*1369A>G (n.*1369A>G) c.1779A>G (p.Ala593=) c.1674A>G (p.Ala558=) n.762A>G c.1671A>G (p.Ala557=) c.1593A>G (p.Ala531=) c.1689A>G (p.Ala563=) n.2187A>G c.1326A>G (p.Ala442=) c.1764A>G (p.Ala588=) c.1677A>G (p.Ala559=) c.1629A>G (p.Ala543=) c.1341A>G (p.Ala447=) c.1776A>G (p.Ala592=) c.1761A>G (p.Ala587=) | |
| 8 | g.71211162T>G | CA461323670 | EYA1 | c.1692A>C (p.Ala564=) c.1590A>C (p.Ala530=) c.1587A>C (p.Ala529=) c.*971A>C (n.*971A>C) n.2155A>C c.*1369A>C (n.*1369A>C) c.1779A>C (p.Ala593=) c.1674A>C (p.Ala558=) n.762A>C c.1671A>C (p.Ala557=) c.1593A>C (p.Ala531=) c.1689A>C (p.Ala563=) n.2187A>C c.1326A>C (p.Ala442=) c.1764A>C (p.Ala588=) c.1677A>C (p.Ala559=) c.1629A>C (p.Ala543=) c.1341A>C (p.Ala447=) c.1776A>C (p.Ala592=) c.1761A>C (p.Ala587=) | |
| 8 | g.71211163del | CA2695209812 | EYA1 | c.1691del (p.Ala564GlufsTer?) c.1589del (p.Ala530GlufsTer?) c.1586del (p.Ala529GlufsTer?) c.*970del (n.*970del) n.2154del c.*1368del (n.*1368del) c.1778del (p.Ala593GlufsTer?) c.1673del (p.Ala558GlufsTer?) n.761del c.1670del (p.Ala557GlufsTer?) c.1592del (p.Ala531GlufsTer?) c.1688del (p.Ala563GlufsTer?) n.2186del c.1325del (p.Ala442GlufsTer?) c.1763del (p.Ala588GlufsTer30) c.1778del (p.Ala593GlufsTer30) c.1676del (p.Ala559GlufsTer?) c.1691del (p.Ala564GlufsTer30) c.1688del (p.Ala563GlufsTer30) c.1628del (p.Ala543GlufsTer30) c.1592del (p.Ala531GlufsTer30) c.1340del (p.Ala447GlufsTer30) c.1763del (p.Ala588GlufsTer?) c.1775del (p.Ala592GlufsTer?) c.1760del (p.Ala587GlufsTer?) c.1778del (p.Ala593GlufsTer25) c.1628del (p.Ala543GlufsTer?) c.1340del (p.Ala447GlufsTer?) | |
| 8 | g.71211163G>A | CA371465820 | EYA1 | c.1691C>T (p.Ala564Val) c.1589C>T (p.Ala530Val) c.1586C>T (p.Ala529Val) c.*970C>T (n.*970C>T) n.2154C>T c.*1368C>T (n.*1368C>T) c.1778C>T (p.Ala593Val) c.1673C>T (p.Ala558Val) n.761C>T c.1670C>T (p.Ala557Val) c.1592C>T (p.Ala531Val) c.1688C>T (p.Ala563Val) n.2186C>T c.1325C>T (p.Ala442Val) c.1763C>T (p.Ala588Val) c.1676C>T (p.Ala559Val) c.1628C>T (p.Ala543Val) c.1340C>T (p.Ala447Val) c.1775C>T (p.Ala592Val) c.1760C>T (p.Ala587Val) | |
| 8 | g.71211163G>C | CA4779391 | EYA1 | c.1691C>G (p.Ala564Gly) c.1589C>G (p.Ala530Gly) c.1586C>G (p.Ala529Gly) c.*970C>G (n.*970C>G) n.2154C>G c.*1368C>G (n.*1368C>G) c.1778C>G (p.Ala593Gly) c.1673C>G (p.Ala558Gly) n.761C>G c.1670C>G (p.Ala557Gly) c.1592C>G (p.Ala531Gly) c.1688C>G (p.Ala563Gly) n.2186C>G c.1325C>G (p.Ala442Gly) c.1763C>G (p.Ala588Gly) c.1676C>G (p.Ala559Gly) c.1628C>G (p.Ala543Gly) c.1340C>G (p.Ala447Gly) c.1775C>G (p.Ala592Gly) c.1760C>G (p.Ala587Gly) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 8 | g.71211163G= | CA1792681557 | EYA1 | c.1691C= (p.Ala564=) c.1589C= (p.Ala530=) c.1586C= (p.Ala529=) c.*970C= (n.*970C=) n.2154C= c.*1368C= (n.*1368C=) c.1778C= (p.Ala593=) c.1673C= (p.Ala558=) n.761C= c.1670C= (p.Ala557=) c.1592C= (p.Ala531=) c.1688C= (p.Ala563=) n.2186C= c.1325C= (p.Ala442=) c.1763C= (p.Ala588=) c.1676C= (p.Ala559=) c.1628C= (p.Ala543=) c.1340C= (p.Ala447=) c.1775C= (p.Ala592=) c.1760C= (p.Ala587=) | |
| 8 | g.71211163G>T | CA371465821 | EYA1 | c.1691C>A (p.Ala564Glu) c.1589C>A (p.Ala530Glu) c.1586C>A (p.Ala529Glu) c.*970C>A (n.*970C>A) n.2154C>A c.*1368C>A (n.*1368C>A) c.1778C>A (p.Ala593Glu) c.1673C>A (p.Ala558Glu) n.761C>A c.1670C>A (p.Ala557Glu) c.1592C>A (p.Ala531Glu) c.1688C>A (p.Ala563Glu) n.2186C>A c.1325C>A (p.Ala442Glu) c.1763C>A (p.Ala588Glu) c.1676C>A (p.Ala559Glu) c.1628C>A (p.Ala543Glu) c.1340C>A (p.Ala447Glu) c.1775C>A (p.Ala592Glu) c.1760C>A (p.Ala587Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71211164C>A | CA371465824 | EYA1 | c.1690G>T (p.Ala564Ser) c.1588G>T (p.Ala530Ser) c.1585G>T (p.Ala529Ser) c.*969G>T (n.*969G>T) n.2153G>T c.*1367G>T (n.*1367G>T) c.1777G>T (p.Ala593Ser) c.1672G>T (p.Ala558Ser) n.760G>T c.1669G>T (p.Ala557Ser) c.1591G>T (p.Ala531Ser) c.1687G>T (p.Ala563Ser) n.2185G>T c.1324G>T (p.Ala442Ser) c.1762G>T (p.Ala588Ser) c.1675G>T (p.Ala559Ser) c.1627G>T (p.Ala543Ser) c.1339G>T (p.Ala447Ser) c.1774G>T (p.Ala592Ser) c.1759G>T (p.Ala587Ser) | |
| 8 | g.71211164C= | CA1792681560 | EYA1 | c.1690G= (p.Ala564=) c.1588G= (p.Ala530=) c.1585G= (p.Ala529=) c.*969G= (n.*969G=) n.2153G= c.*1367G= (n.*1367G=) c.1777G= (p.Ala593=) c.1672G= (p.Ala558=) n.760G= c.1669G= (p.Ala557=) c.1591G= (p.Ala531=) c.1687G= (p.Ala563=) n.2185G= c.1324G= (p.Ala442=) c.1762G= (p.Ala588=) c.1675G= (p.Ala559=) c.1627G= (p.Ala543=) c.1339G= (p.Ala447=) c.1774G= (p.Ala592=) c.1759G= (p.Ala587=) | |
| 8 | g.71211164C>G | CA371465822 | EYA1 | c.1690G>C (p.Ala564Pro) c.1588G>C (p.Ala530Pro) c.1585G>C (p.Ala529Pro) c.*969G>C (n.*969G>C) n.2153G>C c.*1367G>C (n.*1367G>C) c.1777G>C (p.Ala593Pro) c.1672G>C (p.Ala558Pro) n.760G>C c.1669G>C (p.Ala557Pro) c.1591G>C (p.Ala531Pro) c.1687G>C (p.Ala563Pro) n.2185G>C c.1324G>C (p.Ala442Pro) c.1762G>C (p.Ala588Pro) c.1675G>C (p.Ala559Pro) c.1627G>C (p.Ala543Pro) c.1339G>C (p.Ala447Pro) c.1774G>C (p.Ala592Pro) c.1759G>C (p.Ala587Pro) | |
| 8 | g.71211164C>T | CA371465823 | EYA1 | c.1690G>A (p.Ala564Thr) c.1588G>A (p.Ala530Thr) c.1585G>A (p.Ala529Thr) c.*969G>A (n.*969G>A) n.2153G>A c.*1367G>A (n.*1367G>A) c.1777G>A (p.Ala593Thr) c.1672G>A (p.Ala558Thr) n.760G>A c.1669G>A (p.Ala557Thr) c.1591G>A (p.Ala531Thr) c.1687G>A (p.Ala563Thr) n.2185G>A c.1324G>A (p.Ala442Thr) c.1762G>A (p.Ala588Thr) c.1675G>A (p.Ala559Thr) c.1627G>A (p.Ala543Thr) c.1339G>A (p.Ala447Thr) c.1774G>A (p.Ala592Thr) c.1759G>A (p.Ala587Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71211165T>A | CA461323671 | EYA1 | c.1689A>T (p.Gly563=) c.1587A>T (p.Gly529=) c.1584A>T (p.Gly528=) c.*968A>T (n.*968A>T) n.2152A>T c.*1366A>T (n.*1366A>T) c.1776A>T (p.Gly592=) c.1671A>T (p.Gly557=) n.759A>T c.1668A>T (p.Gly556=) c.1590A>T (p.Gly530=) c.1686A>T (p.Gly562=) n.2184A>T c.1323A>T (p.Gly441=) c.1761A>T (p.Gly587=) c.1674A>T (p.Gly558=) c.1626A>T (p.Gly542=) c.1338A>T (p.Gly446=) c.1773A>T (p.Gly591=) c.1758A>T (p.Gly586=) | gnomAD v4 |
| 8 | g.71211165T>C | CA461323672 | EYA1 | c.1689A>G (p.Gly563=) c.1587A>G (p.Gly529=) c.1584A>G (p.Gly528=) c.*968A>G (n.*968A>G) n.2152A>G c.*1366A>G (n.*1366A>G) c.1776A>G (p.Gly592=) c.1671A>G (p.Gly557=) n.759A>G c.1668A>G (p.Gly556=) c.1590A>G (p.Gly530=) c.1686A>G (p.Gly562=) n.2184A>G c.1323A>G (p.Gly441=) c.1761A>G (p.Gly587=) c.1674A>G (p.Gly558=) c.1626A>G (p.Gly542=) c.1338A>G (p.Gly446=) c.1773A>G (p.Gly591=) c.1758A>G (p.Gly586=) | |
| 8 | g.71211165T>G | CA461323673 | EYA1 | c.1689A>C (p.Gly563=) c.1587A>C (p.Gly529=) c.1584A>C (p.Gly528=) c.*968A>C (n.*968A>C) n.2152A>C c.*1366A>C (n.*1366A>C) c.1776A>C (p.Gly592=) c.1671A>C (p.Gly557=) n.759A>C c.1668A>C (p.Gly556=) c.1590A>C (p.Gly530=) c.1686A>C (p.Gly562=) n.2184A>C c.1323A>C (p.Gly441=) c.1761A>C (p.Gly587=) c.1674A>C (p.Gly558=) c.1626A>C (p.Gly542=) c.1338A>C (p.Gly446=) c.1773A>C (p.Gly591=) c.1758A>C (p.Gly586=) | |
| 8 | g.71211166C>A | CA371465825 | EYA1 | c.1688G>T (p.Gly563Val) c.1586G>T (p.Gly529Val) c.1583G>T (p.Gly528Val) c.*967G>T (n.*967G>T) n.2151G>T c.*1365G>T (n.*1365G>T) c.1775G>T (p.Gly592Val) c.1670G>T (p.Gly557Val) n.758G>T c.1667G>T (p.Gly556Val) c.1589G>T (p.Gly530Val) c.1685G>T (p.Gly562Val) n.2183G>T c.1322G>T (p.Gly441Val) c.1760G>T (p.Gly587Val) c.1673G>T (p.Gly558Val) c.1625G>T (p.Gly542Val) c.1337G>T (p.Gly446Val) c.1772G>T (p.Gly591Val) c.1757G>T (p.Gly586Val) | gnomAD v4 |
| 8 | g.71211166C= | CA1792681562 | EYA1 | c.1688G= (p.Gly563=) c.1586G= (p.Gly529=) c.1583G= (p.Gly528=) c.*967G= (n.*967G=) n.2151G= c.*1365G= (n.*1365G=) c.1775G= (p.Gly592=) c.1670G= (p.Gly557=) n.758G= c.1667G= (p.Gly556=) c.1589G= (p.Gly530=) c.1685G= (p.Gly562=) n.2183G= c.1322G= (p.Gly441=) c.1760G= (p.Gly587=) c.1673G= (p.Gly558=) c.1625G= (p.Gly542=) c.1337G= (p.Gly446=) c.1772G= (p.Gly591=) c.1757G= (p.Gly586=) | |
| 8 | g.71211166C>G | CA371465826 | EYA1 | c.1688G>C (p.Gly563Ala) c.1586G>C (p.Gly529Ala) c.1583G>C (p.Gly528Ala) c.*967G>C (n.*967G>C) n.2151G>C c.*1365G>C (n.*1365G>C) c.1775G>C (p.Gly592Ala) c.1670G>C (p.Gly557Ala) n.758G>C c.1667G>C (p.Gly556Ala) c.1589G>C (p.Gly530Ala) c.1685G>C (p.Gly562Ala) n.2183G>C c.1322G>C (p.Gly441Ala) c.1760G>C (p.Gly587Ala) c.1673G>C (p.Gly558Ala) c.1625G>C (p.Gly542Ala) c.1337G>C (p.Gly446Ala) c.1772G>C (p.Gly591Ala) c.1757G>C (p.Gly586Ala) | |
| 8 | g.71211166C>T | CA371465827 | EYA1 | c.1688G>A (p.Gly563Glu) c.1586G>A (p.Gly529Glu) c.1583G>A (p.Gly528Glu) c.*967G>A (n.*967G>A) n.2151G>A c.*1365G>A (n.*1365G>A) c.1775G>A (p.Gly592Glu) c.1670G>A (p.Gly557Glu) n.758G>A c.1667G>A (p.Gly556Glu) c.1589G>A (p.Gly530Glu) c.1685G>A (p.Gly562Glu) n.2183G>A c.1322G>A (p.Gly441Glu) c.1760G>A (p.Gly587Glu) c.1673G>A (p.Gly558Glu) c.1625G>A (p.Gly542Glu) c.1337G>A (p.Gly446Glu) c.1772G>A (p.Gly591Glu) c.1757G>A (p.Gly586Glu) | dbSNP gnomAD v2 |
| 8 | g.71211167C>A | CA371465828 | EYA1 | c.1687G>T (p.Gly563Ter) c.1585G>T (p.Gly529Ter) c.1582G>T (p.Gly528Ter) c.*966G>T (n.*966G>T) n.2150G>T c.*1364G>T (n.*1364G>T) c.1774G>T (p.Gly592Ter) c.1669G>T (p.Gly557Ter) n.757G>T c.1666G>T (p.Gly556Ter) c.1588G>T (p.Gly530Ter) c.1684G>T (p.Gly562Ter) n.2182G>T c.1321G>T (p.Gly441Ter) c.1759G>T (p.Gly587Ter) c.1672G>T (p.Gly558Ter) c.1624G>T (p.Gly542Ter) c.1336G>T (p.Gly446Ter) c.1771G>T (p.Gly591Ter) c.1756G>T (p.Gly586Ter) | |
| 8 | g.71211167C= | CA1792681565 | EYA1 | c.1687G= (p.Gly563=) c.1585G= (p.Gly529=) c.1582G= (p.Gly528=) c.*966G= (n.*966G=) n.2150G= c.*1364G= (n.*1364G=) c.1774G= (p.Gly592=) c.1669G= (p.Gly557=) n.757G= c.1666G= (p.Gly556=) c.1588G= (p.Gly530=) c.1684G= (p.Gly562=) n.2182G= c.1321G= (p.Gly441=) c.1759G= (p.Gly587=) c.1672G= (p.Gly558=) c.1624G= (p.Gly542=) c.1336G= (p.Gly446=) c.1771G= (p.Gly591=) c.1756G= (p.Gly586=) | |
| 8 | g.71211167C>G | CA371465829 | EYA1 | c.1687G>C (p.Gly563Arg) c.1585G>C (p.Gly529Arg) c.1582G>C (p.Gly528Arg) c.*966G>C (n.*966G>C) n.2150G>C c.*1364G>C (n.*1364G>C) c.1774G>C (p.Gly592Arg) c.1669G>C (p.Gly557Arg) n.757G>C c.1666G>C (p.Gly556Arg) c.1588G>C (p.Gly530Arg) c.1684G>C (p.Gly562Arg) n.2182G>C c.1321G>C (p.Gly441Arg) c.1759G>C (p.Gly587Arg) c.1672G>C (p.Gly558Arg) c.1624G>C (p.Gly542Arg) c.1336G>C (p.Gly446Arg) c.1771G>C (p.Gly591Arg) c.1756G>C (p.Gly586Arg) |