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.71211192T>A | CA461323689 | EYA1 | c.1662A>T (p.Ile554=) c.1560A>T (p.Ile520=) c.1557A>T (p.Ile519=) c.*941A>T (n.*941A>T) n.2125A>T c.*1339A>T (n.*1339A>T) c.1749A>T (p.Ile583=) c.1644A>T (p.Ile548=) n.732A>T c.1641A>T (p.Ile547=) c.1563A>T (p.Ile521=) c.1659A>T (p.Ile553=) n.2157A>T c.1296A>T (p.Ile432=) c.1734A>T (p.Ile578=) c.1647A>T (p.Ile549=) c.1599A>T (p.Ile533=) c.1311A>T (p.Ile437=) c.1746A>T (p.Ile582=) c.1731A>T (p.Ile577=) | |
8 | g.71211192T>C | CA371465886 | EYA1 | c.1662A>G (p.Ile554Met) c.1560A>G (p.Ile520Met) c.1557A>G (p.Ile519Met) c.*941A>G (n.*941A>G) n.2125A>G c.*1339A>G (n.*1339A>G) c.1749A>G (p.Ile583Met) c.1644A>G (p.Ile548Met) n.732A>G c.1641A>G (p.Ile547Met) c.1563A>G (p.Ile521Met) c.1659A>G (p.Ile553Met) n.2157A>G c.1296A>G (p.Ile432Met) c.1734A>G (p.Ile578Met) c.1647A>G (p.Ile549Met) c.1599A>G (p.Ile533Met) c.1311A>G (p.Ile437Met) c.1746A>G (p.Ile582Met) c.1731A>G (p.Ile577Met) | |
8 | g.71211192T>G | CA461323688 | EYA1 | c.1662A>C (p.Ile554=) c.1560A>C (p.Ile520=) c.1557A>C (p.Ile519=) c.*941A>C (n.*941A>C) n.2125A>C c.*1339A>C (n.*1339A>C) c.1749A>C (p.Ile583=) c.1644A>C (p.Ile548=) n.732A>C c.1641A>C (p.Ile547=) c.1563A>C (p.Ile521=) c.1659A>C (p.Ile553=) n.2157A>C c.1296A>C (p.Ile432=) c.1734A>C (p.Ile578=) c.1647A>C (p.Ile549=) c.1599A>C (p.Ile533=) c.1311A>C (p.Ile437=) c.1746A>C (p.Ile582=) c.1731A>C (p.Ile577=) | |
8 | g.71211193A= | CA1792681602 | EYA1 | c.1661T= (p.Ile554=) c.1559T= (p.Ile520=) c.1556T= (p.Ile519=) c.*940T= (n.*940T=) n.2124T= c.*1338T= (n.*1338T=) c.1748T= (p.Ile583=) c.1643T= (p.Ile548=) n.731T= c.1640T= (p.Ile547=) c.1562T= (p.Ile521=) c.1658T= (p.Ile553=) n.2156T= c.1295T= (p.Ile432=) c.1733T= (p.Ile578=) c.1646T= (p.Ile549=) c.1598T= (p.Ile533=) c.1310T= (p.Ile437=) c.1745T= (p.Ile582=) c.1730T= (p.Ile577=) | |
8 | g.71211193A>C | CA371465887 | EYA1 | c.1661T>G (p.Ile554Arg) c.1559T>G (p.Ile520Arg) c.1556T>G (p.Ile519Arg) c.*940T>G (n.*940T>G) n.2124T>G c.*1338T>G (n.*1338T>G) c.1748T>G (p.Ile583Arg) c.1643T>G (p.Ile548Arg) n.731T>G c.1640T>G (p.Ile547Arg) c.1562T>G (p.Ile521Arg) c.1658T>G (p.Ile553Arg) n.2156T>G c.1295T>G (p.Ile432Arg) c.1733T>G (p.Ile578Arg) c.1646T>G (p.Ile549Arg) c.1598T>G (p.Ile533Arg) c.1310T>G (p.Ile437Arg) c.1745T>G (p.Ile582Arg) c.1730T>G (p.Ile577Arg) | |
8 | g.71211193A>G | CA371465888 | EYA1 | c.1661T>C (p.Ile554Thr) c.1559T>C (p.Ile520Thr) c.1556T>C (p.Ile519Thr) c.*940T>C (n.*940T>C) n.2124T>C c.*1338T>C (n.*1338T>C) c.1748T>C (p.Ile583Thr) c.1643T>C (p.Ile548Thr) n.731T>C c.1640T>C (p.Ile547Thr) c.1562T>C (p.Ile521Thr) c.1658T>C (p.Ile553Thr) n.2156T>C c.1295T>C (p.Ile432Thr) c.1733T>C (p.Ile578Thr) c.1646T>C (p.Ile549Thr) c.1598T>C (p.Ile533Thr) c.1310T>C (p.Ile437Thr) c.1745T>C (p.Ile582Thr) c.1730T>C (p.Ile577Thr) | dbSNP |
8 | g.71211193A>T | CA371465889 | EYA1 | c.1661T>A (p.Ile554Lys) c.1559T>A (p.Ile520Lys) c.1556T>A (p.Ile519Lys) c.*940T>A (n.*940T>A) n.2124T>A c.*1338T>A (n.*1338T>A) c.1748T>A (p.Ile583Lys) c.1643T>A (p.Ile548Lys) n.731T>A c.1640T>A (p.Ile547Lys) c.1562T>A (p.Ile521Lys) c.1658T>A (p.Ile553Lys) n.2156T>A c.1295T>A (p.Ile432Lys) c.1733T>A (p.Ile578Lys) c.1646T>A (p.Ile549Lys) c.1598T>A (p.Ile533Lys) c.1310T>A (p.Ile437Lys) c.1745T>A (p.Ile582Lys) c.1730T>A (p.Ile577Lys) | |
8 | g.71211194T>A | CA371465890 | EYA1 | c.1660A>T (p.Ile554Leu) c.1558A>T (p.Ile520Leu) c.1555A>T (p.Ile519Leu) c.*939A>T (n.*939A>T) n.2123A>T c.*1337A>T (n.*1337A>T) c.1747A>T (p.Ile583Leu) c.1642A>T (p.Ile548Leu) n.730A>T c.1639A>T (p.Ile547Leu) c.1561A>T (p.Ile521Leu) c.1657A>T (p.Ile553Leu) n.2155A>T c.1294A>T (p.Ile432Leu) c.1732A>T (p.Ile578Leu) c.1645A>T (p.Ile549Leu) c.1597A>T (p.Ile533Leu) c.1309A>T (p.Ile437Leu) c.1744A>T (p.Ile582Leu) c.1729A>T (p.Ile577Leu) | dbSNP gnomAD v4 |
8 | g.71211194T>C | CA371465891 | EYA1 | c.1660A>G (p.Ile554Val) c.1558A>G (p.Ile520Val) c.1555A>G (p.Ile519Val) c.*939A>G (n.*939A>G) n.2123A>G c.*1337A>G (n.*1337A>G) c.1747A>G (p.Ile583Val) c.1642A>G (p.Ile548Val) n.730A>G c.1639A>G (p.Ile547Val) c.1561A>G (p.Ile521Val) c.1657A>G (p.Ile553Val) n.2155A>G c.1294A>G (p.Ile432Val) c.1732A>G (p.Ile578Val) c.1645A>G (p.Ile549Val) c.1597A>G (p.Ile533Val) c.1309A>G (p.Ile437Val) c.1744A>G (p.Ile582Val) c.1729A>G (p.Ile577Val) | dbSNP gnomAD v4 |
8 | g.71211194T>G | CA371465892 | EYA1 | c.1660A>C (p.Ile554Leu) c.1558A>C (p.Ile520Leu) c.1555A>C (p.Ile519Leu) c.*939A>C (n.*939A>C) n.2123A>C c.*1337A>C (n.*1337A>C) c.1747A>C (p.Ile583Leu) c.1642A>C (p.Ile548Leu) n.730A>C c.1639A>C (p.Ile547Leu) c.1561A>C (p.Ile521Leu) c.1657A>C (p.Ile553Leu) n.2155A>C c.1294A>C (p.Ile432Leu) c.1732A>C (p.Ile578Leu) c.1645A>C (p.Ile549Leu) c.1597A>C (p.Ile533Leu) c.1309A>C (p.Ile437Leu) c.1744A>C (p.Ile582Leu) c.1729A>C (p.Ile577Leu) | |
8 | g.71211194T= | CA1792681605 | EYA1 | c.1660A= (p.Ile554=) c.1558A= (p.Ile520=) c.1555A= (p.Ile519=) c.*939A= (n.*939A=) n.2123A= c.*1337A= (n.*1337A=) c.1747A= (p.Ile583=) c.1642A= (p.Ile548=) n.730A= c.1639A= (p.Ile547=) c.1561A= (p.Ile521=) c.1657A= (p.Ile553=) n.2155A= c.1294A= (p.Ile432=) c.1732A= (p.Ile578=) c.1645A= (p.Ile549=) c.1597A= (p.Ile533=) c.1309A= (p.Ile437=) c.1744A= (p.Ile582=) c.1729A= (p.Ile577=) | |
8 | g.71211194_71211197delinsTAAC | CA1792681606 | EYA1 | c.1657_1660delinsGTTA (p.Val553=) c.1555_1558delinsGTTA (p.Val519=) c.1552_1555delinsGTTA (p.Val518=) c.*936_*939delinsGTTA (n.*936_*939delinsGTTA) n.2120_2123delinsGTTA c.*1334_*1337delinsGTTA (n.*1334_*1337delinsGTTA) c.1744_1747delinsGTTA (p.Val582=) c.1639_1642delinsGTTA (p.Val547=) n.727_730delinsGTTA c.1636_1639delinsGTTA (p.Val546=) c.1558_1561delinsGTTA (p.Val520=) c.1654_1657delinsGTTA (p.Val552=) n.2152_2155delinsGTTA c.1291_1294delinsGTTA (p.Val431=) c.1729_1732delinsGTTA (p.Val577=) c.1642_1645delinsGTTA (p.Val548=) c.1594_1597delinsGTTA (p.Val532=) c.1306_1309delinsGTTA (p.Val436=) c.1741_1744delinsGTTA (p.Val581=) c.1726_1729delinsGTTA (p.Val576=) | |
8 | g.71211195A= | CA1792681612 | EYA1 | c.1659T= (p.Val553=) c.1557T= (p.Val519=) c.1554T= (p.Val518=) c.*938T= (n.*938T=) n.2122T= c.*1336T= (n.*1336T=) c.1746T= (p.Val582=) c.1641T= (p.Val547=) n.729T= c.1638T= (p.Val546=) c.1560T= (p.Val520=) c.1656T= (p.Val552=) n.2154T= c.1293T= (p.Val431=) c.1731T= (p.Val577=) c.1644T= (p.Val548=) c.1596T= (p.Val532=) c.1308T= (p.Val436=) c.1743T= (p.Val581=) c.1728T= (p.Val576=) | |
8 | g.71211195A>C | CA461323690 | EYA1 | c.1659T>G (p.Val553=) c.1557T>G (p.Val519=) c.1554T>G (p.Val518=) c.*938T>G (n.*938T>G) n.2122T>G c.*1336T>G (n.*1336T>G) c.1746T>G (p.Val582=) c.1641T>G (p.Val547=) n.729T>G c.1638T>G (p.Val546=) c.1560T>G (p.Val520=) c.1656T>G (p.Val552=) n.2154T>G c.1293T>G (p.Val431=) c.1731T>G (p.Val577=) c.1644T>G (p.Val548=) c.1596T>G (p.Val532=) c.1308T>G (p.Val436=) c.1743T>G (p.Val581=) c.1728T>G (p.Val576=) | |
8 | g.71211195A>G | CA4779394 | EYA1 | c.1659T>C (p.Val553=) c.1557T>C (p.Val519=) c.1554T>C (p.Val518=) c.*938T>C (n.*938T>C) n.2122T>C c.*1336T>C (n.*1336T>C) c.1746T>C (p.Val582=) c.1641T>C (p.Val547=) n.729T>C c.1638T>C (p.Val546=) c.1560T>C (p.Val520=) c.1656T>C (p.Val552=) n.2154T>C c.1293T>C (p.Val431=) c.1731T>C (p.Val577=) c.1644T>C (p.Val548=) c.1596T>C (p.Val532=) c.1308T>C (p.Val436=) c.1743T>C (p.Val581=) c.1728T>C (p.Val576=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211195A>T | CA461323691 | EYA1 | c.1659T>A (p.Val553=) c.1557T>A (p.Val519=) c.1554T>A (p.Val518=) c.*938T>A (n.*938T>A) n.2122T>A c.*1336T>A (n.*1336T>A) c.1746T>A (p.Val582=) c.1641T>A (p.Val547=) n.729T>A c.1638T>A (p.Val546=) c.1560T>A (p.Val520=) c.1656T>A (p.Val552=) n.2154T>A c.1293T>A (p.Val431=) c.1731T>A (p.Val577=) c.1644T>A (p.Val548=) c.1596T>A (p.Val532=) c.1308T>A (p.Val436=) c.1743T>A (p.Val581=) c.1728T>A (p.Val576=) | |
8 | g.71211196_71211199dup | CA2695209813 | EYA1 | c.1656_1659dup (p.Ile554CysfsTer?) c.1554_1557dup (p.Ile520CysfsTer?) c.1551_1554dup (p.Ile519CysfsTer?) c.*935_*938dup (n.*935_*938dup) n.2119_2122dup c.*1333_*1336dup (n.*1333_*1336dup) c.1743_1746dup (p.Ile583CysfsTer?) c.1638_1641dup (p.Ile548CysfsTer?) n.726_729dup c.1635_1638dup (p.Ile547CysfsTer?) c.1557_1560dup (p.Ile521CysfsTer?) c.1653_1656dup (p.Ile553CysfsTer?) n.2151_2154dup c.1290_1293dup (p.Ile432CysfsTer?) c.1728_1731dup (p.Ile578CysfsTer?) c.1641_1644dup (p.Ile549CysfsTer?) c.1593_1596dup (p.Ile533CysfsTer?) c.1305_1308dup (p.Ile437CysfsTer?) c.1740_1743dup (p.Ile582CysfsTer?) c.1725_1728dup (p.Ile577CysfsTer?) c.1743_1746dup (p.Ile583CysfsTer17) | |
8 | g.71211199_71211201del | CA891842917 | EYA1 | c.1657_1659del (p.Val553del) c.1555_1557del (p.Val519del) c.1552_1554del (p.Val518del) c.*936_*938del (n.*936_*938del) n.2120_2122del c.*1334_*1336del (n.*1334_*1336del) c.1744_1746del (p.Val582del) c.1639_1641del (p.Val547del) n.727_729del c.1636_1638del (p.Val546del) c.1558_1560del (p.Val520del) c.1654_1656del (p.Val552del) n.2152_2154del c.1291_1293del (p.Val431del) c.1729_1731del (p.Val577del) c.1642_1644del (p.Val548del) c.1594_1596del (p.Val532del) c.1306_1308del (p.Val436del) c.1741_1743del (p.Val581del) c.1726_1728del (p.Val576del) | ClinVar dbSNP |
8 | g.71211196A>C | CA371465893 | EYA1 | c.1658T>G (p.Val553Gly) c.1556T>G (p.Val519Gly) c.1553T>G (p.Val518Gly) c.*937T>G (n.*937T>G) n.2121T>G c.*1335T>G (n.*1335T>G) c.1745T>G (p.Val582Gly) c.1640T>G (p.Val547Gly) n.728T>G c.1637T>G (p.Val546Gly) c.1559T>G (p.Val520Gly) c.1655T>G (p.Val552Gly) n.2153T>G c.1292T>G (p.Val431Gly) c.1730T>G (p.Val577Gly) c.1643T>G (p.Val548Gly) c.1595T>G (p.Val532Gly) c.1307T>G (p.Val436Gly) c.1742T>G (p.Val581Gly) c.1727T>G (p.Val576Gly) | |
8 | g.71211196A>G | CA371465894 | EYA1 | c.1658T>C (p.Val553Ala) c.1556T>C (p.Val519Ala) c.1553T>C (p.Val518Ala) c.*937T>C (n.*937T>C) n.2121T>C c.*1335T>C (n.*1335T>C) c.1745T>C (p.Val582Ala) c.1640T>C (p.Val547Ala) n.728T>C c.1637T>C (p.Val546Ala) c.1559T>C (p.Val520Ala) c.1655T>C (p.Val552Ala) n.2153T>C c.1292T>C (p.Val431Ala) c.1730T>C (p.Val577Ala) c.1643T>C (p.Val548Ala) c.1595T>C (p.Val532Ala) c.1307T>C (p.Val436Ala) c.1742T>C (p.Val581Ala) c.1727T>C (p.Val576Ala) | |
8 | g.71211196A>T | CA371465895 | EYA1 | c.1658T>A (p.Val553Asp) c.1556T>A (p.Val519Asp) c.1553T>A (p.Val518Asp) c.*937T>A (n.*937T>A) n.2121T>A c.*1335T>A (n.*1335T>A) c.1745T>A (p.Val582Asp) c.1640T>A (p.Val547Asp) n.728T>A c.1637T>A (p.Val546Asp) c.1559T>A (p.Val520Asp) c.1655T>A (p.Val552Asp) n.2153T>A c.1292T>A (p.Val431Asp) c.1730T>A (p.Val577Asp) c.1643T>A (p.Val548Asp) c.1595T>A (p.Val532Asp) c.1307T>A (p.Val436Asp) c.1742T>A (p.Val581Asp) c.1727T>A (p.Val576Asp) | |
8 | g.71211197C>A | CA371465897 | EYA1 | c.1657G>T (p.Val553Phe) c.1555G>T (p.Val519Phe) c.1552G>T (p.Val518Phe) c.*936G>T (n.*936G>T) n.2120G>T c.*1334G>T (n.*1334G>T) c.1744G>T (p.Val582Phe) c.1639G>T (p.Val547Phe) n.727G>T c.1636G>T (p.Val546Phe) c.1558G>T (p.Val520Phe) c.1654G>T (p.Val552Phe) n.2152G>T c.1291G>T (p.Val431Phe) c.1729G>T (p.Val577Phe) c.1642G>T (p.Val548Phe) c.1594G>T (p.Val532Phe) c.1306G>T (p.Val436Phe) c.1741G>T (p.Val581Phe) c.1726G>T (p.Val576Phe) | |
8 | g.71211197C>G | CA371465898 | EYA1 | c.1657G>C (p.Val553Leu) c.1555G>C (p.Val519Leu) c.1552G>C (p.Val518Leu) c.*936G>C (n.*936G>C) n.2120G>C c.*1334G>C (n.*1334G>C) c.1744G>C (p.Val582Leu) c.1639G>C (p.Val547Leu) n.727G>C c.1636G>C (p.Val546Leu) c.1558G>C (p.Val520Leu) c.1654G>C (p.Val552Leu) n.2152G>C c.1291G>C (p.Val431Leu) c.1729G>C (p.Val577Leu) c.1642G>C (p.Val548Leu) c.1594G>C (p.Val532Leu) c.1306G>C (p.Val436Leu) c.1741G>C (p.Val581Leu) c.1726G>C (p.Val576Leu) | |
8 | g.71211197C>T | CA371465896 | EYA1 | c.1657G>A (p.Val553Ile) c.1555G>A (p.Val519Ile) c.1552G>A (p.Val518Ile) c.*936G>A (n.*936G>A) n.2120G>A c.*1334G>A (n.*1334G>A) c.1744G>A (p.Val582Ile) c.1639G>A (p.Val547Ile) n.727G>A c.1636G>A (p.Val546Ile) c.1558G>A (p.Val520Ile) c.1654G>A (p.Val552Ile) n.2152G>A c.1291G>A (p.Val431Ile) c.1729G>A (p.Val577Ile) c.1642G>A (p.Val548Ile) c.1594G>A (p.Val532Ile) c.1306G>A (p.Val436Ile) c.1741G>A (p.Val581Ile) c.1726G>A (p.Val576Ile) | gnomAD v4 |
8 | g.71211198A>C | CA461323692 | EYA1 | c.1656T>G (p.Val552=) c.1554T>G (p.Val518=) c.1551T>G (p.Val517=) c.*935T>G (n.*935T>G) n.2119T>G c.*1333T>G (n.*1333T>G) c.1743T>G (p.Val581=) c.1638T>G (p.Val546=) n.726T>G c.1635T>G (p.Val545=) c.1557T>G (p.Val519=) c.1653T>G (p.Val551=) n.2151T>G c.1290T>G (p.Val430=) c.1728T>G (p.Val576=) c.1641T>G (p.Val547=) c.1593T>G (p.Val531=) c.1305T>G (p.Val435=) c.1740T>G (p.Val580=) c.1725T>G (p.Val575=) | |
8 | g.71211198A>G | CA461323693 | EYA1 | c.1656T>C (p.Val552=) c.1554T>C (p.Val518=) c.1551T>C (p.Val517=) c.*935T>C (n.*935T>C) n.2119T>C c.*1333T>C (n.*1333T>C) c.1743T>C (p.Val581=) c.1638T>C (p.Val546=) n.726T>C c.1635T>C (p.Val545=) c.1557T>C (p.Val519=) c.1653T>C (p.Val551=) n.2151T>C c.1290T>C (p.Val430=) c.1728T>C (p.Val576=) c.1641T>C (p.Val547=) c.1593T>C (p.Val531=) c.1305T>C (p.Val435=) c.1740T>C (p.Val580=) c.1725T>C (p.Val575=) | |
8 | g.71211198A>T | CA461323694 | EYA1 | c.1656T>A (p.Val552=) c.1554T>A (p.Val518=) c.1551T>A (p.Val517=) c.*935T>A (n.*935T>A) n.2119T>A c.*1333T>A (n.*1333T>A) c.1743T>A (p.Val581=) c.1638T>A (p.Val546=) n.726T>A c.1635T>A (p.Val545=) c.1557T>A (p.Val519=) c.1653T>A (p.Val551=) n.2151T>A c.1290T>A (p.Val430=) c.1728T>A (p.Val576=) c.1641T>A (p.Val547=) c.1593T>A (p.Val531=) c.1305T>A (p.Val435=) c.1740T>A (p.Val580=) c.1725T>A (p.Val575=) | |
8 | g.71211199A>C | CA371465899 | EYA1 | c.1655T>G (p.Val552Gly) c.1553T>G (p.Val518Gly) c.1550T>G (p.Val517Gly) c.*934T>G (n.*934T>G) n.2118T>G c.*1332T>G (n.*1332T>G) c.1742T>G (p.Val581Gly) c.1637T>G (p.Val546Gly) n.725T>G c.1634T>G (p.Val545Gly) c.1556T>G (p.Val519Gly) c.1652T>G (p.Val551Gly) n.2150T>G c.1289T>G (p.Val430Gly) c.1727T>G (p.Val576Gly) c.1640T>G (p.Val547Gly) c.1592T>G (p.Val531Gly) c.1304T>G (p.Val435Gly) c.1739T>G (p.Val580Gly) c.1724T>G (p.Val575Gly) | |
8 | g.71211199A>G | CA371465900 | EYA1 | c.1655T>C (p.Val552Ala) c.1553T>C (p.Val518Ala) c.1550T>C (p.Val517Ala) c.*934T>C (n.*934T>C) n.2118T>C c.*1332T>C (n.*1332T>C) c.1742T>C (p.Val581Ala) c.1637T>C (p.Val546Ala) n.725T>C c.1634T>C (p.Val545Ala) c.1556T>C (p.Val519Ala) c.1652T>C (p.Val551Ala) n.2150T>C c.1289T>C (p.Val430Ala) c.1727T>C (p.Val576Ala) c.1640T>C (p.Val547Ala) c.1592T>C (p.Val531Ala) c.1304T>C (p.Val435Ala) c.1739T>C (p.Val580Ala) c.1724T>C (p.Val575Ala) | |
8 | g.71211199A>T | CA371465901 | EYA1 | c.1655T>A (p.Val552Asp) c.1553T>A (p.Val518Asp) c.1550T>A (p.Val517Asp) c.*934T>A (n.*934T>A) n.2118T>A c.*1332T>A (n.*1332T>A) c.1742T>A (p.Val581Asp) c.1637T>A (p.Val546Asp) n.725T>A c.1634T>A (p.Val545Asp) c.1556T>A (p.Val519Asp) c.1652T>A (p.Val551Asp) n.2150T>A c.1289T>A (p.Val430Asp) c.1727T>A (p.Val576Asp) c.1640T>A (p.Val547Asp) c.1592T>A (p.Val531Asp) c.1304T>A (p.Val435Asp) c.1739T>A (p.Val580Asp) c.1724T>A (p.Val575Asp) | |
8 | g.71211200C>A | CA371465902 | EYA1 | c.1654G>T (p.Val552Phe) c.1552G>T (p.Val518Phe) c.1549G>T (p.Val517Phe) c.*933G>T (n.*933G>T) n.2117G>T c.*1331G>T (n.*1331G>T) c.1741G>T (p.Val581Phe) c.1636G>T (p.Val546Phe) n.724G>T c.1633G>T (p.Val545Phe) c.1555G>T (p.Val519Phe) c.1651G>T (p.Val551Phe) n.2149G>T c.1288G>T (p.Val430Phe) c.1726G>T (p.Val576Phe) c.1639G>T (p.Val547Phe) c.1591G>T (p.Val531Phe) c.1303G>T (p.Val435Phe) c.1738G>T (p.Val580Phe) c.1723G>T (p.Val575Phe) | |
8 | g.71211200C>G | CA371465903 | EYA1 | c.1654G>C (p.Val552Leu) c.1552G>C (p.Val518Leu) c.1549G>C (p.Val517Leu) c.*933G>C (n.*933G>C) n.2117G>C c.*1331G>C (n.*1331G>C) c.1741G>C (p.Val581Leu) c.1636G>C (p.Val546Leu) n.724G>C c.1633G>C (p.Val545Leu) c.1555G>C (p.Val519Leu) c.1651G>C (p.Val551Leu) n.2149G>C c.1288G>C (p.Val430Leu) c.1726G>C (p.Val576Leu) c.1639G>C (p.Val547Leu) c.1591G>C (p.Val531Leu) c.1303G>C (p.Val435Leu) c.1738G>C (p.Val580Leu) c.1723G>C (p.Val575Leu) | |
8 | g.71211200C>T | CA371465904 | EYA1 | c.1654G>A (p.Val552Ile) c.1552G>A (p.Val518Ile) c.1549G>A (p.Val517Ile) c.*933G>A (n.*933G>A) n.2117G>A c.*1331G>A (n.*1331G>A) c.1741G>A (p.Val581Ile) c.1636G>A (p.Val546Ile) n.724G>A c.1633G>A (p.Val545Ile) c.1555G>A (p.Val519Ile) c.1651G>A (p.Val551Ile) n.2149G>A c.1288G>A (p.Val430Ile) c.1726G>A (p.Val576Ile) c.1639G>A (p.Val547Ile) c.1591G>A (p.Val531Ile) c.1303G>A (p.Val435Ile) c.1738G>A (p.Val580Ile) c.1723G>A (p.Val575Ile) | COSMIC COSMIC |
8 | g.71211201A= | CA1792681614 | EYA1 | c.1653T= (p.Tyr551=) c.1551T= (p.Tyr517=) c.1548T= (p.Tyr516=) c.*932T= (n.*932T=) n.2116T= c.*1330T= (n.*1330T=) c.1740T= (p.Tyr580=) c.1635T= (p.Tyr545=) n.723T= c.1632T= (p.Tyr544=) c.1554T= (p.Tyr518=) c.1650T= (p.Tyr550=) n.2148T= c.1287T= (p.Tyr429=) c.1725T= (p.Tyr575=) c.1638T= (p.Tyr546=) c.1590T= (p.Tyr530=) c.1302T= (p.Tyr434=) c.1737T= (p.Tyr579=) c.1722T= (p.Tyr574=) | |
8 | g.71211201A>C | CA371465905 | EYA1 | c.1653T>G (p.Tyr551Ter) c.1551T>G (p.Tyr517Ter) c.1548T>G (p.Tyr516Ter) c.*932T>G (n.*932T>G) n.2116T>G c.*1330T>G (n.*1330T>G) c.1740T>G (p.Tyr580Ter) c.1635T>G (p.Tyr545Ter) n.723T>G c.1632T>G (p.Tyr544Ter) c.1554T>G (p.Tyr518Ter) c.1650T>G (p.Tyr550Ter) n.2148T>G c.1287T>G (p.Tyr429Ter) c.1725T>G (p.Tyr575Ter) c.1638T>G (p.Tyr546Ter) c.1590T>G (p.Tyr530Ter) c.1302T>G (p.Tyr434Ter) c.1737T>G (p.Tyr579Ter) c.1722T>G (p.Tyr574Ter) | |
8 | g.71211201A>G | CA4779395 | EYA1 | c.1653T>C (p.Tyr551=) c.1551T>C (p.Tyr517=) c.1548T>C (p.Tyr516=) c.*932T>C (n.*932T>C) n.2116T>C c.*1330T>C (n.*1330T>C) c.1740T>C (p.Tyr580=) c.1635T>C (p.Tyr545=) n.723T>C c.1632T>C (p.Tyr544=) c.1554T>C (p.Tyr518=) c.1650T>C (p.Tyr550=) n.2148T>C c.1287T>C (p.Tyr429=) c.1725T>C (p.Tyr575=) c.1638T>C (p.Tyr546=) c.1590T>C (p.Tyr530=) c.1302T>C (p.Tyr434=) c.1737T>C (p.Tyr579=) c.1722T>C (p.Tyr574=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211201A>T | CA371465906 | EYA1 | c.1653T>A (p.Tyr551Ter) c.1551T>A (p.Tyr517Ter) c.1548T>A (p.Tyr516Ter) c.*932T>A (n.*932T>A) n.2116T>A c.*1330T>A (n.*1330T>A) c.1740T>A (p.Tyr580Ter) c.1635T>A (p.Tyr545Ter) n.723T>A c.1632T>A (p.Tyr544Ter) c.1554T>A (p.Tyr518Ter) c.1650T>A (p.Tyr550Ter) n.2148T>A c.1287T>A (p.Tyr429Ter) c.1725T>A (p.Tyr575Ter) c.1638T>A (p.Tyr546Ter) c.1590T>A (p.Tyr530Ter) c.1302T>A (p.Tyr434Ter) c.1737T>A (p.Tyr579Ter) c.1722T>A (p.Tyr574Ter) | |
8 | g.71211202T>A | CA371465907 | EYA1 | c.1652A>T (p.Tyr551Phe) c.1550A>T (p.Tyr517Phe) c.1547A>T (p.Tyr516Phe) c.*931A>T (n.*931A>T) n.2115A>T c.*1329A>T (n.*1329A>T) c.1739A>T (p.Tyr580Phe) c.1634A>T (p.Tyr545Phe) n.722A>T c.1631A>T (p.Tyr544Phe) c.1553A>T (p.Tyr518Phe) c.1649A>T (p.Tyr550Phe) n.2147A>T c.1286A>T (p.Tyr429Phe) c.1724A>T (p.Tyr575Phe) c.1637A>T (p.Tyr546Phe) c.1589A>T (p.Tyr530Phe) c.1301A>T (p.Tyr434Phe) c.1736A>T (p.Tyr579Phe) c.1721A>T (p.Tyr574Phe) | |
8 | g.71211202T>C | CA371465908 | EYA1 | c.1652A>G (p.Tyr551Cys) c.1550A>G (p.Tyr517Cys) c.1547A>G (p.Tyr516Cys) c.*931A>G (n.*931A>G) n.2115A>G c.*1329A>G (n.*1329A>G) c.1739A>G (p.Tyr580Cys) c.1634A>G (p.Tyr545Cys) n.722A>G c.1631A>G (p.Tyr544Cys) c.1553A>G (p.Tyr518Cys) c.1649A>G (p.Tyr550Cys) n.2147A>G c.1286A>G (p.Tyr429Cys) c.1724A>G (p.Tyr575Cys) c.1637A>G (p.Tyr546Cys) c.1589A>G (p.Tyr530Cys) c.1301A>G (p.Tyr434Cys) c.1736A>G (p.Tyr579Cys) c.1721A>G (p.Tyr574Cys) | |
8 | g.71211202T>G | CA371465909 | EYA1 | c.1652A>C (p.Tyr551Ser) c.1550A>C (p.Tyr517Ser) c.1547A>C (p.Tyr516Ser) c.*931A>C (n.*931A>C) n.2115A>C c.*1329A>C (n.*1329A>C) c.1739A>C (p.Tyr580Ser) c.1634A>C (p.Tyr545Ser) n.722A>C c.1631A>C (p.Tyr544Ser) c.1553A>C (p.Tyr518Ser) c.1649A>C (p.Tyr550Ser) n.2147A>C c.1286A>C (p.Tyr429Ser) c.1724A>C (p.Tyr575Ser) c.1637A>C (p.Tyr546Ser) c.1589A>C (p.Tyr530Ser) c.1301A>C (p.Tyr434Ser) c.1736A>C (p.Tyr579Ser) c.1721A>C (p.Tyr574Ser) | |
8 | g.71211203A>C | CA371465912 | EYA1 | c.1651T>G (p.Tyr551Asp) c.1549T>G (p.Tyr517Asp) c.1546T>G (p.Tyr516Asp) c.*930T>G (n.*930T>G) n.2114T>G c.*1328T>G (n.*1328T>G) c.1738T>G (p.Tyr580Asp) c.1633T>G (p.Tyr545Asp) n.721T>G c.1630T>G (p.Tyr544Asp) c.1552T>G (p.Tyr518Asp) c.1648T>G (p.Tyr550Asp) n.2146T>G c.1285T>G (p.Tyr429Asp) c.1723T>G (p.Tyr575Asp) c.1636T>G (p.Tyr546Asp) c.1588T>G (p.Tyr530Asp) c.1300T>G (p.Tyr434Asp) c.1735T>G (p.Tyr579Asp) c.1720T>G (p.Tyr574Asp) | |
8 | g.71211203A>G | CA371465911 | EYA1 | c.1651T>C (p.Tyr551His) c.1549T>C (p.Tyr517His) c.1546T>C (p.Tyr516His) c.*930T>C (n.*930T>C) n.2114T>C c.*1328T>C (n.*1328T>C) c.1738T>C (p.Tyr580His) c.1633T>C (p.Tyr545His) n.721T>C c.1630T>C (p.Tyr544His) c.1552T>C (p.Tyr518His) c.1648T>C (p.Tyr550His) n.2146T>C c.1285T>C (p.Tyr429His) c.1723T>C (p.Tyr575His) c.1636T>C (p.Tyr546His) c.1588T>C (p.Tyr530His) c.1300T>C (p.Tyr434His) c.1735T>C (p.Tyr579His) c.1720T>C (p.Tyr574His) | |
8 | g.71211203A>T | CA371465910 | EYA1 | c.1651T>A (p.Tyr551Asn) c.1549T>A (p.Tyr517Asn) c.1546T>A (p.Tyr516Asn) c.*930T>A (n.*930T>A) n.2114T>A c.*1328T>A (n.*1328T>A) c.1738T>A (p.Tyr580Asn) c.1633T>A (p.Tyr545Asn) n.721T>A c.1630T>A (p.Tyr544Asn) c.1552T>A (p.Tyr518Asn) c.1648T>A (p.Tyr550Asn) n.2146T>A c.1285T>A (p.Tyr429Asn) c.1723T>A (p.Tyr575Asn) c.1636T>A (p.Tyr546Asn) c.1588T>A (p.Tyr530Asn) c.1300T>A (p.Tyr434Asn) c.1735T>A (p.Tyr579Asn) c.1720T>A (p.Tyr574Asn) | |
8 | g.71211203dup | CA915940936 | EYA1 | c.1651dup (p.Tyr551LeufsTer?) c.1549dup (p.Tyr517LeufsTer?) c.1546dup (p.Tyr516LeufsTer?) c.*930dup (n.*930dup) n.2114dup c.*1328dup (n.*1328dup) c.1738dup (p.Tyr580LeufsTer?) c.1633dup (p.Tyr545LeufsTer?) n.721dup c.1630dup (p.Tyr544LeufsTer?) c.1552dup (p.Tyr518LeufsTer?) c.1648dup (p.Tyr550LeufsTer?) n.2146dup c.1285dup (p.Tyr429LeufsTer?) c.1723dup (p.Tyr575LeufsTer?) c.1636dup (p.Tyr546LeufsTer?) c.1588dup (p.Tyr530LeufsTer?) c.1300dup (p.Tyr434LeufsTer?) c.1735dup (p.Tyr579LeufsTer?) c.1720dup (p.Tyr574LeufsTer?) c.1738dup (p.Tyr580LeufsTer19) | |
8 | g.71211205_71211206dup | CA2580617175 | EYA1 | c.1650_1651dup (p.Tyr551CysfsTer5) c.1548_1549dup (p.Tyr517CysfsTer5) c.1545_1546dup (p.Tyr516CysfsTer5) c.*929_*930dup (n.*929_*930dup) n.2113_2114dup c.*1327_*1328dup (n.*1327_*1328dup) c.1737_1738dup (p.Tyr580CysfsTer5) c.1632_1633dup (p.Tyr545CysfsTer5) n.720_721dup c.1629_1630dup (p.Tyr544CysfsTer5) c.1551_1552dup (p.Tyr518CysfsTer5) c.1647_1648dup (p.Tyr550CysfsTer5) n.2145_2146dup c.1284_1285dup (p.Tyr429CysfsTer5) c.1722_1723dup (p.Tyr575CysfsTer5) c.1635_1636dup (p.Tyr546CysfsTer5) c.1587_1588dup (p.Tyr530CysfsTer5) c.1299_1300dup (p.Tyr434CysfsTer5) c.1734_1735dup (p.Tyr579CysfsTer5) c.1719_1720dup (p.Tyr574CysfsTer5) | ClinVar dbSNP |
8 | g.71211204C>A | CA4779396 | EYA1 | c.1650G>T (p.Val550=) c.1548G>T (p.Val516=) c.1545G>T (p.Val515=) c.*929G>T (n.*929G>T) n.2113G>T c.*1327G>T (n.*1327G>T) c.1737G>T (p.Val579=) c.1632G>T (p.Val544=) n.720G>T c.1629G>T (p.Val543=) c.1551G>T (p.Val517=) c.1647G>T (p.Val549=) n.2145G>T c.1284G>T (p.Val428=) c.1722G>T (p.Val574=) c.1635G>T (p.Val545=) c.1587G>T (p.Val529=) c.1299G>T (p.Val433=) c.1734G>T (p.Val578=) c.1719G>T (p.Val573=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211204C= | CA1792681618 | EYA1 | c.1650G= (p.Val550=) c.1548G= (p.Val516=) c.1545G= (p.Val515=) c.*929G= (n.*929G=) n.2113G= c.*1327G= (n.*1327G=) c.1737G= (p.Val579=) c.1632G= (p.Val544=) n.720G= c.1629G= (p.Val543=) c.1551G= (p.Val517=) c.1647G= (p.Val549=) n.2145G= c.1284G= (p.Val428=) c.1722G= (p.Val574=) c.1635G= (p.Val545=) c.1587G= (p.Val529=) c.1299G= (p.Val433=) c.1734G= (p.Val578=) c.1719G= (p.Val573=) | |
8 | g.71211204C>G | CA461323695 | EYA1 | c.1650G>C (p.Val550=) c.1548G>C (p.Val516=) c.1545G>C (p.Val515=) c.*929G>C (n.*929G>C) n.2113G>C c.*1327G>C (n.*1327G>C) c.1737G>C (p.Val579=) c.1632G>C (p.Val544=) n.720G>C c.1629G>C (p.Val543=) c.1551G>C (p.Val517=) c.1647G>C (p.Val549=) n.2145G>C c.1284G>C (p.Val428=) c.1722G>C (p.Val574=) c.1635G>C (p.Val545=) c.1587G>C (p.Val529=) c.1299G>C (p.Val433=) c.1734G>C (p.Val578=) c.1719G>C (p.Val573=) | |
8 | g.71211204C>T | CA179207096 | EYA1 | c.1650G>A (p.Val550=) c.1548G>A (p.Val516=) c.1545G>A (p.Val515=) c.*929G>A (n.*929G>A) n.2113G>A c.*1327G>A (n.*1327G>A) c.1737G>A (p.Val579=) c.1632G>A (p.Val544=) n.720G>A c.1629G>A (p.Val543=) c.1551G>A (p.Val517=) c.1647G>A (p.Val549=) n.2145G>A c.1284G>A (p.Val428=) c.1722G>A (p.Val574=) c.1635G>A (p.Val545=) c.1587G>A (p.Val529=) c.1299G>A (p.Val433=) c.1734G>A (p.Val578=) c.1719G>A (p.Val573=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211205A= | CA1792681622 | EYA1 | c.1649T= (p.Val550=) c.1547T= (p.Val516=) c.1544T= (p.Val515=) c.*928T= (n.*928T=) n.2112T= c.*1326T= (n.*1326T=) c.1736T= (p.Val579=) c.1631T= (p.Val544=) n.719T= c.1628T= (p.Val543=) c.1550T= (p.Val517=) c.1646T= (p.Val549=) n.2144T= c.1283T= (p.Val428=) c.1721T= (p.Val574=) c.1634T= (p.Val545=) c.1586T= (p.Val529=) c.1298T= (p.Val433=) c.1733T= (p.Val578=) c.1718T= (p.Val573=) | |
8 | g.71211205A>C | CA371465913 | EYA1 | c.1649T>G (p.Val550Gly) c.1547T>G (p.Val516Gly) c.1544T>G (p.Val515Gly) c.*928T>G (n.*928T>G) n.2112T>G c.*1326T>G (n.*1326T>G) c.1736T>G (p.Val579Gly) c.1631T>G (p.Val544Gly) n.719T>G c.1628T>G (p.Val543Gly) c.1550T>G (p.Val517Gly) c.1646T>G (p.Val549Gly) n.2144T>G c.1283T>G (p.Val428Gly) c.1721T>G (p.Val574Gly) c.1634T>G (p.Val545Gly) c.1586T>G (p.Val529Gly) c.1298T>G (p.Val433Gly) c.1733T>G (p.Val578Gly) c.1718T>G (p.Val573Gly) | |
8 | g.71211205A>G | CA371465914 | EYA1 | c.1649T>C (p.Val550Ala) c.1547T>C (p.Val516Ala) c.1544T>C (p.Val515Ala) c.*928T>C (n.*928T>C) n.2112T>C c.*1326T>C (n.*1326T>C) c.1736T>C (p.Val579Ala) c.1631T>C (p.Val544Ala) n.719T>C c.1628T>C (p.Val543Ala) c.1550T>C (p.Val517Ala) c.1646T>C (p.Val549Ala) n.2144T>C c.1283T>C (p.Val428Ala) c.1721T>C (p.Val574Ala) c.1634T>C (p.Val545Ala) c.1586T>C (p.Val529Ala) c.1298T>C (p.Val433Ala) c.1733T>C (p.Val578Ala) c.1718T>C (p.Val573Ala) | dbSNP gnomAD v4 |
8 | g.71211205A>T | CA371465915 | EYA1 | c.1649T>A (p.Val550Glu) c.1547T>A (p.Val516Glu) c.1544T>A (p.Val515Glu) c.*928T>A (n.*928T>A) n.2112T>A c.*1326T>A (n.*1326T>A) c.1736T>A (p.Val579Glu) c.1631T>A (p.Val544Glu) n.719T>A c.1628T>A (p.Val543Glu) c.1550T>A (p.Val517Glu) c.1646T>A (p.Val549Glu) n.2144T>A c.1283T>A (p.Val428Glu) c.1721T>A (p.Val574Glu) c.1634T>A (p.Val545Glu) c.1586T>A (p.Val529Glu) c.1298T>A (p.Val433Glu) c.1733T>A (p.Val578Glu) c.1718T>A (p.Val573Glu) | |
8 | g.71211206C>A | CA371465916 | EYA1 | c.1648G>T (p.Val550Leu) c.1546G>T (p.Val516Leu) c.1543G>T (p.Val515Leu) c.*927G>T (n.*927G>T) n.2111G>T c.*1325G>T (n.*1325G>T) c.1735G>T (p.Val579Leu) c.1630G>T (p.Val544Leu) n.718G>T c.1627G>T (p.Val543Leu) c.1549G>T (p.Val517Leu) c.1645G>T (p.Val549Leu) n.2143G>T c.1282G>T (p.Val428Leu) c.1720G>T (p.Val574Leu) c.1633G>T (p.Val545Leu) c.1585G>T (p.Val529Leu) c.1297G>T (p.Val433Leu) c.1732G>T (p.Val578Leu) c.1717G>T (p.Val573Leu) | |
8 | g.71211206C>G | CA371465917 | EYA1 | c.1648G>C (p.Val550Leu) c.1546G>C (p.Val516Leu) c.1543G>C (p.Val515Leu) c.*927G>C (n.*927G>C) n.2111G>C c.*1325G>C (n.*1325G>C) c.1735G>C (p.Val579Leu) c.1630G>C (p.Val544Leu) n.718G>C c.1627G>C (p.Val543Leu) c.1549G>C (p.Val517Leu) c.1645G>C (p.Val549Leu) n.2143G>C c.1282G>C (p.Val428Leu) c.1720G>C (p.Val574Leu) c.1633G>C (p.Val545Leu) c.1585G>C (p.Val529Leu) c.1297G>C (p.Val433Leu) c.1732G>C (p.Val578Leu) c.1717G>C (p.Val573Leu) | |
8 | g.71211206C>T | CA371465918 | EYA1 | c.1648G>A (p.Val550Met) c.1546G>A (p.Val516Met) c.1543G>A (p.Val515Met) c.*927G>A (n.*927G>A) n.2111G>A c.*1325G>A (n.*1325G>A) c.1735G>A (p.Val579Met) c.1630G>A (p.Val544Met) n.718G>A c.1627G>A (p.Val543Met) c.1549G>A (p.Val517Met) c.1645G>A (p.Val549Met) n.2143G>A c.1282G>A (p.Val428Met) c.1720G>A (p.Val574Met) c.1633G>A (p.Val545Met) c.1585G>A (p.Val529Met) c.1297G>A (p.Val433Met) c.1732G>A (p.Val578Met) c.1717G>A (p.Val573Met) | |
8 | g.71211207C>A | CA461323696 | EYA1 | c.1647G>T (p.Val549=) c.1545G>T (p.Val515=) c.1542G>T (p.Val514=) c.*926G>T (n.*926G>T) n.2110G>T c.*1324G>T (n.*1324G>T) c.1734G>T (p.Val578=) c.1629G>T (p.Val543=) n.717G>T c.1626G>T (p.Val542=) c.1548G>T (p.Val516=) c.1644G>T (p.Val548=) n.2142G>T c.1281G>T (p.Val427=) c.1719G>T (p.Val573=) c.1632G>T (p.Val544=) c.1584G>T (p.Val528=) c.1296G>T (p.Val432=) c.1731G>T (p.Val577=) c.1716G>T (p.Val572=) | |
8 | g.71211207C>G | CA461323697 | EYA1 | c.1647G>C (p.Val549=) c.1545G>C (p.Val515=) c.1542G>C (p.Val514=) c.*926G>C (n.*926G>C) n.2110G>C c.*1324G>C (n.*1324G>C) c.1734G>C (p.Val578=) c.1629G>C (p.Val543=) n.717G>C c.1626G>C (p.Val542=) c.1548G>C (p.Val516=) c.1644G>C (p.Val548=) n.2142G>C c.1281G>C (p.Val427=) c.1719G>C (p.Val573=) c.1632G>C (p.Val544=) c.1584G>C (p.Val528=) c.1296G>C (p.Val432=) c.1731G>C (p.Val577=) c.1716G>C (p.Val572=) | |
8 | g.71211207C>T | CA461323698 | EYA1 | c.1647G>A (p.Val549=) c.1545G>A (p.Val515=) c.1542G>A (p.Val514=) c.*926G>A (n.*926G>A) n.2110G>A c.*1324G>A (n.*1324G>A) c.1734G>A (p.Val578=) c.1629G>A (p.Val543=) n.717G>A c.1626G>A (p.Val542=) c.1548G>A (p.Val516=) c.1644G>A (p.Val548=) n.2142G>A c.1281G>A (p.Val427=) c.1719G>A (p.Val573=) c.1632G>A (p.Val544=) c.1584G>A (p.Val528=) c.1296G>A (p.Val432=) c.1731G>A (p.Val577=) c.1716G>A (p.Val572=) | gnomAD v4 |
8 | g.71211208A= | CA1792681628 | EYA1 | c.1646T= (p.Val549=) c.1544T= (p.Val515=) c.1541T= (p.Val514=) c.*925T= (n.*925T=) n.2109T= c.*1323T= (n.*1323T=) c.1733T= (p.Val578=) c.1628T= (p.Val543=) n.716T= c.1625T= (p.Val542=) c.1547T= (p.Val516=) c.1643T= (p.Val548=) n.2141T= c.1280T= (p.Val427=) c.1718T= (p.Val573=) c.1631T= (p.Val544=) c.1583T= (p.Val528=) c.1295T= (p.Val432=) c.1730T= (p.Val577=) c.1715T= (p.Val572=) | |
8 | g.71211208A>C | CA371465919 | EYA1 | c.1646T>G (p.Val549Gly) c.1544T>G (p.Val515Gly) c.1541T>G (p.Val514Gly) c.*925T>G (n.*925T>G) n.2109T>G c.*1323T>G (n.*1323T>G) c.1733T>G (p.Val578Gly) c.1628T>G (p.Val543Gly) n.716T>G c.1625T>G (p.Val542Gly) c.1547T>G (p.Val516Gly) c.1643T>G (p.Val548Gly) n.2141T>G c.1280T>G (p.Val427Gly) c.1718T>G (p.Val573Gly) c.1631T>G (p.Val544Gly) c.1583T>G (p.Val528Gly) c.1295T>G (p.Val432Gly) c.1730T>G (p.Val577Gly) c.1715T>G (p.Val572Gly) | |
8 | g.71211208A>G | CA4779397 | EYA1 | c.1646T>C (p.Val549Ala) c.1544T>C (p.Val515Ala) c.1541T>C (p.Val514Ala) c.*925T>C (n.*925T>C) n.2109T>C c.*1323T>C (n.*1323T>C) c.1733T>C (p.Val578Ala) c.1628T>C (p.Val543Ala) n.716T>C c.1625T>C (p.Val542Ala) c.1547T>C (p.Val516Ala) c.1643T>C (p.Val548Ala) n.2141T>C c.1280T>C (p.Val427Ala) c.1718T>C (p.Val573Ala) c.1631T>C (p.Val544Ala) c.1583T>C (p.Val528Ala) c.1295T>C (p.Val432Ala) c.1730T>C (p.Val577Ala) c.1715T>C (p.Val572Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211208A>T | CA371465920 | EYA1 | c.1646T>A (p.Val549Glu) c.1544T>A (p.Val515Glu) c.1541T>A (p.Val514Glu) c.*925T>A (n.*925T>A) n.2109T>A c.*1323T>A (n.*1323T>A) c.1733T>A (p.Val578Glu) c.1628T>A (p.Val543Glu) n.716T>A c.1625T>A (p.Val542Glu) c.1547T>A (p.Val516Glu) c.1643T>A (p.Val548Glu) n.2141T>A c.1280T>A (p.Val427Glu) c.1718T>A (p.Val573Glu) c.1631T>A (p.Val544Glu) c.1583T>A (p.Val528Glu) c.1295T>A (p.Val432Glu) c.1730T>A (p.Val577Glu) c.1715T>A (p.Val572Glu) | |
8 | g.71211209C>A | CA371465921 | EYA1 | c.1645G>T (p.Val549Leu) c.1543G>T (p.Val515Leu) c.1540G>T (p.Val514Leu) c.*924G>T (n.*924G>T) n.2108G>T c.*1322G>T (n.*1322G>T) c.1732G>T (p.Val578Leu) c.1627G>T (p.Val543Leu) n.715G>T c.1624G>T (p.Val542Leu) c.1546G>T (p.Val516Leu) c.1642G>T (p.Val548Leu) n.2140G>T c.1279G>T (p.Val427Leu) c.1717G>T (p.Val573Leu) c.1630G>T (p.Val544Leu) c.1582G>T (p.Val528Leu) c.1294G>T (p.Val432Leu) c.1729G>T (p.Val577Leu) c.1714G>T (p.Val572Leu) | |
8 | g.71211209C>G | CA371465922 | EYA1 | c.1645G>C (p.Val549Leu) c.1543G>C (p.Val515Leu) c.1540G>C (p.Val514Leu) c.*924G>C (n.*924G>C) n.2108G>C c.*1322G>C (n.*1322G>C) c.1732G>C (p.Val578Leu) c.1627G>C (p.Val543Leu) n.715G>C c.1624G>C (p.Val542Leu) c.1546G>C (p.Val516Leu) c.1642G>C (p.Val548Leu) n.2140G>C c.1279G>C (p.Val427Leu) c.1717G>C (p.Val573Leu) c.1630G>C (p.Val544Leu) c.1582G>C (p.Val528Leu) c.1294G>C (p.Val432Leu) c.1729G>C (p.Val577Leu) c.1714G>C (p.Val572Leu) | gnomAD v4 |
8 | g.71211209C>T | CA371465923 | EYA1 | c.1645G>A (p.Val549Met) c.1543G>A (p.Val515Met) c.1540G>A (p.Val514Met) c.*924G>A (n.*924G>A) n.2108G>A c.*1322G>A (n.*1322G>A) c.1732G>A (p.Val578Met) c.1627G>A (p.Val543Met) n.715G>A c.1624G>A (p.Val542Met) c.1546G>A (p.Val516Met) c.1642G>A (p.Val548Met) n.2140G>A c.1279G>A (p.Val427Met) c.1717G>A (p.Val573Met) c.1630G>A (p.Val544Met) c.1582G>A (p.Val528Met) c.1294G>A (p.Val432Met) c.1729G>A (p.Val577Met) c.1714G>A (p.Val572Met) | |
8 | g.71211209_71211211dup | CA2687599358 | EYA1 | c.1643_1645dup (p.Lys548_Val549insGlu) c.1541_1543dup (p.Lys514_Val515insGlu) c.1538_1540dup (p.Lys513_Val514insGlu) c.*922_*924dup (n.*922_*924dup) n.2106_2108dup c.*1320_*1322dup (n.*1320_*1322dup) c.1730_1732dup (p.Lys577_Val578insGlu) c.1625_1627dup (p.Lys542_Val543insGlu) n.713_715dup c.1622_1624dup (p.Lys541_Val542insGlu) c.1544_1546dup (p.Lys515_Val516insGlu) c.1640_1642dup (p.Lys547_Val548insGlu) n.2138_2140dup c.1277_1279dup (p.Lys426_Val427insGlu) c.1715_1717dup (p.Lys572_Val573insGlu) c.1628_1630dup (p.Lys543_Val544insGlu) c.1580_1582dup (p.Lys527_Val528insGlu) c.1292_1294dup (p.Lys431_Val432insGlu) c.1727_1729dup (p.Lys576_Val577insGlu) c.1712_1714dup (p.Lys571_Val572insGlu) | gnomAD v4 |
8 | g.71211212_71211216del | CA2695209814 | EYA1 | c.1641_1645del (p.Arg547SerfsTer?) c.1539_1543del (p.Arg513SerfsTer?) c.1536_1540del (p.Arg512SerfsTer?) c.*920_*924del (n.*920_*924del) n.2104_2108del c.*1318_*1322del (n.*1318_*1322del) c.1728_1732del (p.Arg576SerfsTer?) c.1623_1627del (p.Arg541SerfsTer?) n.711_715del c.1620_1624del (p.Arg540SerfsTer?) c.1542_1546del (p.Arg514SerfsTer?) c.1638_1642del (p.Arg546SerfsTer?) n.2136_2140del c.1275_1279del (p.Arg425SerfsTer?) c.1713_1717del (p.Arg571SerfsTer?) c.1626_1630del (p.Arg542SerfsTer?) c.1578_1582del (p.Arg526SerfsTer?) c.1290_1294del (p.Arg430SerfsTer?) c.1725_1729del (p.Arg575SerfsTer?) c.1710_1714del (p.Arg570SerfsTer?) c.1728_1732del (p.Arg576SerfsTer21) | |
8 | g.71211210T>A | CA371465924 | EYA1 | c.1644A>T (p.Lys548Asn) c.1542A>T (p.Lys514Asn) c.1539A>T (p.Lys513Asn) c.*923A>T (n.*923A>T) n.2107A>T c.*1321A>T (n.*1321A>T) c.1731A>T (p.Lys577Asn) c.1626A>T (p.Lys542Asn) n.714A>T c.1623A>T (p.Lys541Asn) c.1545A>T (p.Lys515Asn) c.1641A>T (p.Lys547Asn) n.2139A>T c.1278A>T (p.Lys426Asn) c.1716A>T (p.Lys572Asn) c.1629A>T (p.Lys543Asn) c.1581A>T (p.Lys527Asn) c.1293A>T (p.Lys431Asn) c.1728A>T (p.Lys576Asn) c.1713A>T (p.Lys571Asn) | |
8 | g.71211210T>C | CA461323699 | EYA1 | c.1644A>G (p.Lys548=) c.1542A>G (p.Lys514=) c.1539A>G (p.Lys513=) c.*923A>G (n.*923A>G) n.2107A>G c.*1321A>G (n.*1321A>G) c.1731A>G (p.Lys577=) c.1626A>G (p.Lys542=) n.714A>G c.1623A>G (p.Lys541=) c.1545A>G (p.Lys515=) c.1641A>G (p.Lys547=) n.2139A>G c.1278A>G (p.Lys426=) c.1716A>G (p.Lys572=) c.1629A>G (p.Lys543=) c.1581A>G (p.Lys527=) c.1293A>G (p.Lys431=) c.1728A>G (p.Lys576=) c.1713A>G (p.Lys571=) | |
8 | g.71211210T>G | CA371465925 | EYA1 | c.1644A>C (p.Lys548Asn) c.1542A>C (p.Lys514Asn) c.1539A>C (p.Lys513Asn) c.*923A>C (n.*923A>C) n.2107A>C c.*1321A>C (n.*1321A>C) c.1731A>C (p.Lys577Asn) c.1626A>C (p.Lys542Asn) n.714A>C c.1623A>C (p.Lys541Asn) c.1545A>C (p.Lys515Asn) c.1641A>C (p.Lys547Asn) n.2139A>C c.1278A>C (p.Lys426Asn) c.1716A>C (p.Lys572Asn) c.1629A>C (p.Lys543Asn) c.1581A>C (p.Lys527Asn) c.1293A>C (p.Lys431Asn) c.1728A>C (p.Lys576Asn) c.1713A>C (p.Lys571Asn) | |
8 | g.71211212_71211213dup | CA2695209815 | EYA1 | c.1643_1644dup (p.Val549LysfsTer7) c.1541_1542dup (p.Val515LysfsTer7) c.1538_1539dup (p.Val514LysfsTer7) c.*922_*923dup (n.*922_*923dup) n.2106_2107dup c.*1320_*1321dup (n.*1320_*1321dup) c.1730_1731dup (p.Val578LysfsTer7) c.1625_1626dup (p.Val543LysfsTer7) n.713_714dup c.1622_1623dup (p.Val542LysfsTer7) c.1544_1545dup (p.Val516LysfsTer7) c.1640_1641dup (p.Val548LysfsTer7) n.2138_2139dup c.1277_1278dup (p.Val427LysfsTer7) c.1715_1716dup (p.Val573LysfsTer7) c.1628_1629dup (p.Val544LysfsTer7) c.1580_1581dup (p.Val528LysfsTer7) c.1292_1293dup (p.Val432LysfsTer7) c.1727_1728dup (p.Val577LysfsTer7) c.1712_1713dup (p.Val572LysfsTer7) | |
8 | g.71211213del | CA2499219393 | EYA1 | c.1644del (p.Val549TrpfsTer6) c.1542del (p.Val515TrpfsTer6) c.1539del (p.Val514TrpfsTer6) c.*923del (n.*923del) n.2107del c.*1321del (n.*1321del) c.1731del (p.Val578TrpfsTer6) c.1626del (p.Val543TrpfsTer6) n.714del c.1623del (p.Val542TrpfsTer6) c.1545del (p.Val516TrpfsTer6) c.1641del (p.Val548TrpfsTer6) n.2139del c.1278del (p.Val427TrpfsTer6) c.1716del (p.Val573TrpfsTer6) c.1629del (p.Val544TrpfsTer6) c.1581del (p.Val528TrpfsTer6) c.1293del (p.Val432TrpfsTer6) c.1728del (p.Val577TrpfsTer6) c.1713del (p.Val572TrpfsTer6) | ClinVar dbSNP |
8 | g.71211211T>A | CA371465926 | EYA1 | c.1643A>T (p.Lys548Ile) c.1541A>T (p.Lys514Ile) c.1538A>T (p.Lys513Ile) c.*922A>T (n.*922A>T) n.2106A>T c.*1320A>T (n.*1320A>T) c.1730A>T (p.Lys577Ile) c.1625A>T (p.Lys542Ile) n.713A>T c.1622A>T (p.Lys541Ile) c.1544A>T (p.Lys515Ile) c.1640A>T (p.Lys547Ile) n.2138A>T c.1277A>T (p.Lys426Ile) c.1715A>T (p.Lys572Ile) c.1628A>T (p.Lys543Ile) c.1580A>T (p.Lys527Ile) c.1292A>T (p.Lys431Ile) c.1727A>T (p.Lys576Ile) c.1712A>T (p.Lys571Ile) | |
8 | g.71211211T>C | CA371465928 | EYA1 | c.1643A>G (p.Lys548Arg) c.1541A>G (p.Lys514Arg) c.1538A>G (p.Lys513Arg) c.*922A>G (n.*922A>G) n.2106A>G c.*1320A>G (n.*1320A>G) c.1730A>G (p.Lys577Arg) c.1625A>G (p.Lys542Arg) n.713A>G c.1622A>G (p.Lys541Arg) c.1544A>G (p.Lys515Arg) c.1640A>G (p.Lys547Arg) n.2138A>G c.1277A>G (p.Lys426Arg) c.1715A>G (p.Lys572Arg) c.1628A>G (p.Lys543Arg) c.1580A>G (p.Lys527Arg) c.1292A>G (p.Lys431Arg) c.1727A>G (p.Lys576Arg) c.1712A>G (p.Lys571Arg) | |
8 | g.71211211T>G | CA371465927 | EYA1 | c.1643A>C (p.Lys548Thr) c.1541A>C (p.Lys514Thr) c.1538A>C (p.Lys513Thr) c.*922A>C (n.*922A>C) n.2106A>C c.*1320A>C (n.*1320A>C) c.1730A>C (p.Lys577Thr) c.1625A>C (p.Lys542Thr) n.713A>C c.1622A>C (p.Lys541Thr) c.1544A>C (p.Lys515Thr) c.1640A>C (p.Lys547Thr) n.2138A>C c.1277A>C (p.Lys426Thr) c.1715A>C (p.Lys572Thr) c.1628A>C (p.Lys543Thr) c.1580A>C (p.Lys527Thr) c.1292A>C (p.Lys431Thr) c.1727A>C (p.Lys576Thr) c.1712A>C (p.Lys571Thr) | |
8 | g.71211212T>A | CA371465929 | EYA1 | c.1642A>T (p.Lys548Ter) c.1540A>T (p.Lys514Ter) c.1537A>T (p.Lys513Ter) c.*921A>T (n.*921A>T) n.2105A>T c.*1319A>T (n.*1319A>T) c.1729A>T (p.Lys577Ter) c.1624A>T (p.Lys542Ter) n.712A>T c.1621A>T (p.Lys541Ter) c.1543A>T (p.Lys515Ter) c.1639A>T (p.Lys547Ter) n.2137A>T c.1276A>T (p.Lys426Ter) c.1714A>T (p.Lys572Ter) c.1627A>T (p.Lys543Ter) c.1579A>T (p.Lys527Ter) c.1291A>T (p.Lys431Ter) c.1726A>T (p.Lys576Ter) c.1711A>T (p.Lys571Ter) | |
8 | g.71211212T>C | CA371465930 | EYA1 | c.1642A>G (p.Lys548Glu) c.1540A>G (p.Lys514Glu) c.1537A>G (p.Lys513Glu) c.*921A>G (n.*921A>G) n.2105A>G c.*1319A>G (n.*1319A>G) c.1729A>G (p.Lys577Glu) c.1624A>G (p.Lys542Glu) n.712A>G c.1621A>G (p.Lys541Glu) c.1543A>G (p.Lys515Glu) c.1639A>G (p.Lys547Glu) n.2137A>G c.1276A>G (p.Lys426Glu) c.1714A>G (p.Lys572Glu) c.1627A>G (p.Lys543Glu) c.1579A>G (p.Lys527Glu) c.1291A>G (p.Lys431Glu) c.1726A>G (p.Lys576Glu) c.1711A>G (p.Lys571Glu) | |
8 | g.71211212T>G | CA371465931 | EYA1 | c.1642A>C (p.Lys548Gln) c.1540A>C (p.Lys514Gln) c.1537A>C (p.Lys513Gln) c.*921A>C (n.*921A>C) n.2105A>C c.*1319A>C (n.*1319A>C) c.1729A>C (p.Lys577Gln) c.1624A>C (p.Lys542Gln) n.712A>C c.1621A>C (p.Lys541Gln) c.1543A>C (p.Lys515Gln) c.1639A>C (p.Lys547Gln) n.2137A>C c.1276A>C (p.Lys426Gln) c.1714A>C (p.Lys572Gln) c.1627A>C (p.Lys543Gln) c.1579A>C (p.Lys527Gln) c.1291A>C (p.Lys431Gln) c.1726A>C (p.Lys576Gln) c.1711A>C (p.Lys571Gln) | |
8 | g.71211213T>A | CA371465932 | EYA1 | c.1641A>T (p.Arg547Ser) c.1539A>T (p.Arg513Ser) c.1536A>T (p.Arg512Ser) c.*920A>T (n.*920A>T) n.2104A>T c.*1318A>T (n.*1318A>T) c.1728A>T (p.Arg576Ser) c.1623A>T (p.Arg541Ser) n.711A>T c.1620A>T (p.Arg540Ser) c.1542A>T (p.Arg514Ser) c.1638A>T (p.Arg546Ser) n.2136A>T c.1275A>T (p.Arg425Ser) c.1713A>T (p.Arg571Ser) c.1626A>T (p.Arg542Ser) c.1578A>T (p.Arg526Ser) c.1290A>T (p.Arg430Ser) c.1725A>T (p.Arg575Ser) c.1710A>T (p.Arg570Ser) | |
8 | g.71211213T>C | CA461323700 | EYA1 | c.1641A>G (p.Arg547=) c.1539A>G (p.Arg513=) c.1536A>G (p.Arg512=) c.*920A>G (n.*920A>G) n.2104A>G c.*1318A>G (n.*1318A>G) c.1728A>G (p.Arg576=) c.1623A>G (p.Arg541=) n.711A>G c.1620A>G (p.Arg540=) c.1542A>G (p.Arg514=) c.1638A>G (p.Arg546=) n.2136A>G c.1275A>G (p.Arg425=) c.1713A>G (p.Arg571=) c.1626A>G (p.Arg542=) c.1578A>G (p.Arg526=) c.1290A>G (p.Arg430=) c.1725A>G (p.Arg575=) c.1710A>G (p.Arg570=) | COSMIC COSMIC |
8 | g.71211213T>G | CA371465933 | EYA1 | c.1641A>C (p.Arg547Ser) c.1539A>C (p.Arg513Ser) c.1536A>C (p.Arg512Ser) c.*920A>C (n.*920A>C) n.2104A>C c.*1318A>C (n.*1318A>C) c.1728A>C (p.Arg576Ser) c.1623A>C (p.Arg541Ser) n.711A>C c.1620A>C (p.Arg540Ser) c.1542A>C (p.Arg514Ser) c.1638A>C (p.Arg546Ser) n.2136A>C c.1275A>C (p.Arg425Ser) c.1713A>C (p.Arg571Ser) c.1626A>C (p.Arg542Ser) c.1578A>C (p.Arg526Ser) c.1290A>C (p.Arg430Ser) c.1725A>C (p.Arg575Ser) c.1710A>C (p.Arg570Ser) | |
8 | g.71211214C>A | CA371465934 | EYA1 | c.1640G>T (p.Arg547Ile) c.1538G>T (p.Arg513Ile) c.1535G>T (p.Arg512Ile) c.*919G>T (n.*919G>T) n.2103G>T c.*1317G>T (n.*1317G>T) c.1727G>T (p.Arg576Ile) c.1622G>T (p.Arg541Ile) n.710G>T c.1619G>T (p.Arg540Ile) c.1541G>T (p.Arg514Ile) c.1637G>T (p.Arg546Ile) n.2135G>T c.1274G>T (p.Arg425Ile) c.1712G>T (p.Arg571Ile) c.1625G>T (p.Arg542Ile) c.1577G>T (p.Arg526Ile) c.1289G>T (p.Arg430Ile) c.1724G>T (p.Arg575Ile) c.1709G>T (p.Arg570Ile) | |
8 | g.71211214C>G | CA371465935 | EYA1 | c.1640G>C (p.Arg547Thr) c.1538G>C (p.Arg513Thr) c.1535G>C (p.Arg512Thr) c.*919G>C (n.*919G>C) n.2103G>C c.*1317G>C (n.*1317G>C) c.1727G>C (p.Arg576Thr) c.1622G>C (p.Arg541Thr) n.710G>C c.1619G>C (p.Arg540Thr) c.1541G>C (p.Arg514Thr) c.1637G>C (p.Arg546Thr) n.2135G>C c.1274G>C (p.Arg425Thr) c.1712G>C (p.Arg571Thr) c.1625G>C (p.Arg542Thr) c.1577G>C (p.Arg526Thr) c.1289G>C (p.Arg430Thr) c.1724G>C (p.Arg575Thr) c.1709G>C (p.Arg570Thr) | |
8 | g.71211214C>T | CA371465936 | EYA1 | c.1640G>A (p.Arg547Lys) c.1538G>A (p.Arg513Lys) c.1535G>A (p.Arg512Lys) c.*919G>A (n.*919G>A) n.2103G>A c.*1317G>A (n.*1317G>A) c.1727G>A (p.Arg576Lys) c.1622G>A (p.Arg541Lys) n.710G>A c.1619G>A (p.Arg540Lys) c.1541G>A (p.Arg514Lys) c.1637G>A (p.Arg546Lys) n.2135G>A c.1274G>A (p.Arg425Lys) c.1712G>A (p.Arg571Lys) c.1625G>A (p.Arg542Lys) c.1577G>A (p.Arg526Lys) c.1289G>A (p.Arg430Lys) c.1724G>A (p.Arg575Lys) c.1709G>A (p.Arg570Lys) | |
8 | g.71211215T>A | CA371465937 | EYA1 | c.1639A>T (p.Arg547Ter) c.1537A>T (p.Arg513Ter) c.1534A>T (p.Arg512Ter) c.*918A>T (n.*918A>T) n.2102A>T c.*1316A>T (n.*1316A>T) c.1726A>T (p.Arg576Ter) c.1621A>T (p.Arg541Ter) n.709A>T c.1618A>T (p.Arg540Ter) c.1540A>T (p.Arg514Ter) c.1636A>T (p.Arg546Ter) n.2134A>T c.1273A>T (p.Arg425Ter) c.1711A>T (p.Arg571Ter) c.1624A>T (p.Arg542Ter) c.1576A>T (p.Arg526Ter) c.1288A>T (p.Arg430Ter) c.1723A>T (p.Arg575Ter) c.1708A>T (p.Arg570Ter) | |
8 | g.71211215T>C | CA119164 | EYA1 | c.1639A>G (p.Arg547Gly) c.1537A>G (p.Arg513Gly) c.1534A>G (p.Arg512Gly) c.*918A>G (n.*918A>G) n.2102A>G c.*1316A>G (n.*1316A>G) c.1726A>G (p.Arg576Gly) c.1621A>G (p.Arg541Gly) n.709A>G c.1618A>G (p.Arg540Gly) c.1540A>G (p.Arg514Gly) c.1636A>G (p.Arg546Gly) n.2134A>G c.1273A>G (p.Arg425Gly) c.1711A>G (p.Arg571Gly) c.1624A>G (p.Arg542Gly) c.1576A>G (p.Arg526Gly) c.1288A>G (p.Arg430Gly) c.1723A>G (p.Arg575Gly) c.1708A>G (p.Arg570Gly) | ClinVar dbSNP |
8 | g.71211215T>G | CA461323701 | EYA1 | c.1639A>C (p.Arg547=) c.1537A>C (p.Arg513=) c.1534A>C (p.Arg512=) c.*918A>C (n.*918A>C) n.2102A>C c.*1316A>C (n.*1316A>C) c.1726A>C (p.Arg576=) c.1621A>C (p.Arg541=) n.709A>C c.1618A>C (p.Arg540=) c.1540A>C (p.Arg514=) c.1636A>C (p.Arg546=) n.2134A>C c.1273A>C (p.Arg425=) c.1711A>C (p.Arg571=) c.1624A>C (p.Arg542=) c.1576A>C (p.Arg526=) c.1288A>C (p.Arg430=) c.1723A>C (p.Arg575=) c.1708A>C (p.Arg570=) | |
8 | g.71211215T= | CA1792681633 | EYA1 | c.1639A= (p.Arg547=) c.1537A= (p.Arg513=) c.1534A= (p.Arg512=) c.*918A= (n.*918A=) n.2102A= c.*1316A= (n.*1316A=) c.1726A= (p.Arg576=) c.1621A= (p.Arg541=) n.709A= c.1618A= (p.Arg540=) c.1540A= (p.Arg514=) c.1636A= (p.Arg546=) n.2134A= c.1273A= (p.Arg425=) c.1711A= (p.Arg571=) c.1624A= (p.Arg542=) c.1576A= (p.Arg526=) c.1288A= (p.Arg430=) c.1723A= (p.Arg575=) c.1708A= (p.Arg570=) | |
8 | g.71211216T>A | CA461323704 | EYA1 | c.1638A>T (p.Gly546=) c.1536A>T (p.Gly512=) c.1533A>T (p.Gly511=) c.*917A>T (n.*917A>T) n.2101A>T c.*1315A>T (n.*1315A>T) c.1725A>T (p.Gly575=) c.1620A>T (p.Gly540=) n.708A>T c.1617A>T (p.Gly539=) c.1539A>T (p.Gly513=) c.1635A>T (p.Gly545=) n.2133A>T c.1272A>T (p.Gly424=) c.1710A>T (p.Gly570=) c.1623A>T (p.Gly541=) c.1575A>T (p.Gly525=) c.1287A>T (p.Gly429=) c.1722A>T (p.Gly574=) c.1707A>T (p.Gly569=) | |
8 | g.71211216T>C | CA461323703 | EYA1 | c.1638A>G (p.Gly546=) c.1536A>G (p.Gly512=) c.1533A>G (p.Gly511=) c.*917A>G (n.*917A>G) n.2101A>G c.*1315A>G (n.*1315A>G) c.1725A>G (p.Gly575=) c.1620A>G (p.Gly540=) n.708A>G c.1617A>G (p.Gly539=) c.1539A>G (p.Gly513=) c.1635A>G (p.Gly545=) n.2133A>G c.1272A>G (p.Gly424=) c.1710A>G (p.Gly570=) c.1623A>G (p.Gly541=) c.1575A>G (p.Gly525=) c.1287A>G (p.Gly429=) c.1722A>G (p.Gly574=) c.1707A>G (p.Gly569=) | |
8 | g.71211216T>G | CA461323702 | EYA1 | c.1638A>C (p.Gly546=) c.1536A>C (p.Gly512=) c.1533A>C (p.Gly511=) c.*917A>C (n.*917A>C) n.2101A>C c.*1315A>C (n.*1315A>C) c.1725A>C (p.Gly575=) c.1620A>C (p.Gly540=) n.708A>C c.1617A>C (p.Gly539=) c.1539A>C (p.Gly513=) c.1635A>C (p.Gly545=) n.2133A>C c.1272A>C (p.Gly424=) c.1710A>C (p.Gly570=) c.1623A>C (p.Gly541=) c.1575A>C (p.Gly525=) c.1287A>C (p.Gly429=) c.1722A>C (p.Gly574=) c.1707A>C (p.Gly569=) | gnomAD v4 |
8 | g.71211217C>A | CA371465938 | EYA1 | c.1637G>T (p.Gly546Val) c.1535G>T (p.Gly512Val) c.1532G>T (p.Gly511Val) c.*916G>T (n.*916G>T) n.2100G>T c.*1314G>T (n.*1314G>T) c.1724G>T (p.Gly575Val) c.1619G>T (p.Gly540Val) n.707G>T c.1616G>T (p.Gly539Val) c.1538G>T (p.Gly513Val) c.1634G>T (p.Gly545Val) n.2132G>T c.1271G>T (p.Gly424Val) c.1709G>T (p.Gly570Val) c.1622G>T (p.Gly541Val) c.1574G>T (p.Gly525Val) c.1286G>T (p.Gly429Val) c.1721G>T (p.Gly574Val) c.1706G>T (p.Gly569Val) | |
8 | g.71211217C>G | CA371465939 | EYA1 | c.1637G>C (p.Gly546Ala) c.1535G>C (p.Gly512Ala) c.1532G>C (p.Gly511Ala) c.*916G>C (n.*916G>C) n.2100G>C c.*1314G>C (n.*1314G>C) c.1724G>C (p.Gly575Ala) c.1619G>C (p.Gly540Ala) n.707G>C c.1616G>C (p.Gly539Ala) c.1538G>C (p.Gly513Ala) c.1634G>C (p.Gly545Ala) n.2132G>C c.1271G>C (p.Gly424Ala) c.1709G>C (p.Gly570Ala) c.1622G>C (p.Gly541Ala) c.1574G>C (p.Gly525Ala) c.1286G>C (p.Gly429Ala) c.1721G>C (p.Gly574Ala) c.1706G>C (p.Gly569Ala) | |
8 | g.71211217C>T | CA371465940 | EYA1 | c.1637G>A (p.Gly546Glu) c.1535G>A (p.Gly512Glu) c.1532G>A (p.Gly511Glu) c.*916G>A (n.*916G>A) n.2100G>A c.*1314G>A (n.*1314G>A) c.1724G>A (p.Gly575Glu) c.1619G>A (p.Gly540Glu) n.707G>A c.1616G>A (p.Gly539Glu) c.1538G>A (p.Gly513Glu) c.1634G>A (p.Gly545Glu) n.2132G>A c.1271G>A (p.Gly424Glu) c.1709G>A (p.Gly570Glu) c.1622G>A (p.Gly541Glu) c.1574G>A (p.Gly525Glu) c.1286G>A (p.Gly429Glu) c.1721G>A (p.Gly574Glu) c.1706G>A (p.Gly569Glu) | |
8 | g.71211218C>A | CA371465941 | EYA1 | c.1636G>T (p.Gly546Ter) c.1534G>T (p.Gly512Ter) c.1531G>T (p.Gly511Ter) c.*915G>T (n.*915G>T) n.2099G>T c.*1313G>T (n.*1313G>T) c.1723G>T (p.Gly575Ter) c.1618G>T (p.Gly540Ter) n.706G>T c.1615G>T (p.Gly539Ter) c.1537G>T (p.Gly513Ter) c.1633G>T (p.Gly545Ter) n.2131G>T c.1270G>T (p.Gly424Ter) c.1708G>T (p.Gly570Ter) c.1621G>T (p.Gly541Ter) c.1573G>T (p.Gly525Ter) c.1285G>T (p.Gly429Ter) c.1720G>T (p.Gly574Ter) c.1705G>T (p.Gly569Ter) | |
8 | g.71211218C>G | CA371465943 | EYA1 | c.1636G>C (p.Gly546Arg) c.1534G>C (p.Gly512Arg) c.1531G>C (p.Gly511Arg) c.*915G>C (n.*915G>C) n.2099G>C c.*1313G>C (n.*1313G>C) c.1723G>C (p.Gly575Arg) c.1618G>C (p.Gly540Arg) n.706G>C c.1615G>C (p.Gly539Arg) c.1537G>C (p.Gly513Arg) c.1633G>C (p.Gly545Arg) n.2131G>C c.1270G>C (p.Gly424Arg) c.1708G>C (p.Gly570Arg) c.1621G>C (p.Gly541Arg) c.1573G>C (p.Gly525Arg) c.1285G>C (p.Gly429Arg) c.1720G>C (p.Gly574Arg) c.1705G>C (p.Gly569Arg) | |
8 | g.71211218C>T | CA371465942 | EYA1 | c.1636G>A (p.Gly546Arg) c.1534G>A (p.Gly512Arg) c.1531G>A (p.Gly511Arg) c.*915G>A (n.*915G>A) n.2099G>A c.*1313G>A (n.*1313G>A) c.1723G>A (p.Gly575Arg) c.1618G>A (p.Gly540Arg) n.706G>A c.1615G>A (p.Gly539Arg) c.1537G>A (p.Gly513Arg) c.1633G>A (p.Gly545Arg) n.2131G>A c.1270G>A (p.Gly424Arg) c.1708G>A (p.Gly570Arg) c.1621G>A (p.Gly541Arg) c.1573G>A (p.Gly525Arg) c.1285G>A (p.Gly429Arg) c.1720G>A (p.Gly574Arg) c.1705G>A (p.Gly569Arg) | |
8 | g.71211218_71211219delinsCA | CA1792681639 | EYA1 | c.1635_1636delinsTG (p.Phe545=) c.1533_1534delinsTG (p.Phe511=) c.1530_1531delinsTG (p.Phe510=) c.*914_*915delinsTG (n.*914_*915delinsTG) n.2098_2099delinsTG c.*1312_*1313delinsTG (n.*1312_*1313delinsTG) c.1722_1723delinsTG (p.Phe574=) c.1617_1618delinsTG (p.Phe539=) n.705_706delinsTG c.1614_1615delinsTG (p.Phe538=) c.1536_1537delinsTG (p.Phe512=) c.1632_1633delinsTG (p.Phe544=) n.2130_2131delinsTG c.1269_1270delinsTG (p.Phe423=) c.1707_1708delinsTG (p.Phe569=) c.1620_1621delinsTG (p.Phe540=) c.1572_1573delinsTG (p.Phe524=) c.1284_1285delinsTG (p.Phe428=) c.1719_1720delinsTG (p.Phe573=) c.1704_1705delinsTG (p.Phe568=) | |
8 | g.71211219A>C | CA371465944 | EYA1 | c.1635T>G (p.Phe545Leu) c.1533T>G (p.Phe511Leu) c.1530T>G (p.Phe510Leu) c.*914T>G (n.*914T>G) n.2098T>G c.*1312T>G (n.*1312T>G) c.1722T>G (p.Phe574Leu) c.1617T>G (p.Phe539Leu) n.705T>G c.1614T>G (p.Phe538Leu) c.1536T>G (p.Phe512Leu) c.1632T>G (p.Phe544Leu) n.2130T>G c.1269T>G (p.Phe423Leu) c.1707T>G (p.Phe569Leu) c.1620T>G (p.Phe540Leu) c.1572T>G (p.Phe524Leu) c.1284T>G (p.Phe428Leu) c.1719T>G (p.Phe573Leu) c.1704T>G (p.Phe568Leu) | |
8 | g.71211219A>G | CA461323705 | EYA1 | c.1635T>C (p.Phe545=) c.1533T>C (p.Phe511=) c.1530T>C (p.Phe510=) c.*914T>C (n.*914T>C) n.2098T>C c.*1312T>C (n.*1312T>C) c.1722T>C (p.Phe574=) c.1617T>C (p.Phe539=) n.705T>C c.1614T>C (p.Phe538=) c.1536T>C (p.Phe512=) c.1632T>C (p.Phe544=) n.2130T>C c.1269T>C (p.Phe423=) c.1707T>C (p.Phe569=) c.1620T>C (p.Phe540=) c.1572T>C (p.Phe524=) c.1284T>C (p.Phe428=) c.1719T>C (p.Phe573=) c.1704T>C (p.Phe568=) | |
8 | g.71211219A>T | CA371465945 | EYA1 | c.1635T>A (p.Phe545Leu) c.1533T>A (p.Phe511Leu) c.1530T>A (p.Phe510Leu) c.*914T>A (n.*914T>A) n.2098T>A c.*1312T>A (n.*1312T>A) c.1722T>A (p.Phe574Leu) c.1617T>A (p.Phe539Leu) n.705T>A c.1614T>A (p.Phe538Leu) c.1536T>A (p.Phe512Leu) c.1632T>A (p.Phe544Leu) n.2130T>A c.1269T>A (p.Phe423Leu) c.1707T>A (p.Phe569Leu) c.1620T>A (p.Phe540Leu) c.1572T>A (p.Phe524Leu) c.1284T>A (p.Phe428Leu) c.1719T>A (p.Phe573Leu) c.1704T>A (p.Phe568Leu) | |
8 | g.71211221del | CA1139660595 | EYA1 | c.1635del (p.Phe545LeufsTer10) c.1533del (p.Phe511LeufsTer10) c.1530del (p.Phe510LeufsTer10) c.*914del (n.*914del) n.2098del c.*1312del (n.*1312del) c.1722del (p.Phe574LeufsTer10) c.1617del (p.Phe539LeufsTer10) n.705del c.1614del (p.Phe538LeufsTer10) c.1536del (p.Phe512LeufsTer10) c.1632del (p.Phe544LeufsTer10) n.2130del c.1269del (p.Phe423LeufsTer10) c.1707del (p.Phe569LeufsTer10) c.1620del (p.Phe540LeufsTer10) c.1572del (p.Phe524LeufsTer10) c.1284del (p.Phe428LeufsTer10) c.1719del (p.Phe573LeufsTer10) c.1704del (p.Phe568LeufsTer10) | ClinVar dbSNP |
8 | g.71211220A= | CA1792681645 | EYA1 | c.1634T= (p.Phe545=) c.1532T= (p.Phe511=) c.1529T= (p.Phe510=) c.*913T= (n.*913T=) n.2097T= c.*1311T= (n.*1311T=) c.1721T= (p.Phe574=) c.1616T= (p.Phe539=) n.704T= c.1613T= (p.Phe538=) c.1535T= (p.Phe512=) c.1631T= (p.Phe544=) n.2129T= c.1268T= (p.Phe423=) c.1706T= (p.Phe569=) c.1619T= (p.Phe540=) c.1571T= (p.Phe524=) c.1283T= (p.Phe428=) c.1718T= (p.Phe573=) c.1703T= (p.Phe568=) | |
8 | g.71211220A>C | CA371465946 | EYA1 | c.1634T>G (p.Phe545Cys) c.1532T>G (p.Phe511Cys) c.1529T>G (p.Phe510Cys) c.*913T>G (n.*913T>G) n.2097T>G c.*1311T>G (n.*1311T>G) c.1721T>G (p.Phe574Cys) c.1616T>G (p.Phe539Cys) n.704T>G c.1613T>G (p.Phe538Cys) c.1535T>G (p.Phe512Cys) c.1631T>G (p.Phe544Cys) n.2129T>G c.1268T>G (p.Phe423Cys) c.1706T>G (p.Phe569Cys) c.1619T>G (p.Phe540Cys) c.1571T>G (p.Phe524Cys) c.1283T>G (p.Phe428Cys) c.1718T>G (p.Phe573Cys) c.1703T>G (p.Phe568Cys) | |
8 | g.71211220A>G | CA371465947 | EYA1 | c.1634T>C (p.Phe545Ser) c.1532T>C (p.Phe511Ser) c.1529T>C (p.Phe510Ser) c.*913T>C (n.*913T>C) n.2097T>C c.*1311T>C (n.*1311T>C) c.1721T>C (p.Phe574Ser) c.1616T>C (p.Phe539Ser) n.704T>C c.1613T>C (p.Phe538Ser) c.1535T>C (p.Phe512Ser) c.1631T>C (p.Phe544Ser) n.2129T>C c.1268T>C (p.Phe423Ser) c.1706T>C (p.Phe569Ser) c.1619T>C (p.Phe540Ser) c.1571T>C (p.Phe524Ser) c.1283T>C (p.Phe428Ser) c.1718T>C (p.Phe573Ser) c.1703T>C (p.Phe568Ser) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211220A>T | CA371465948 | EYA1 | c.1634T>A (p.Phe545Tyr) c.1532T>A (p.Phe511Tyr) c.1529T>A (p.Phe510Tyr) c.*913T>A (n.*913T>A) n.2097T>A c.*1311T>A (n.*1311T>A) c.1721T>A (p.Phe574Tyr) c.1616T>A (p.Phe539Tyr) n.704T>A c.1613T>A (p.Phe538Tyr) c.1535T>A (p.Phe512Tyr) c.1631T>A (p.Phe544Tyr) n.2129T>A c.1268T>A (p.Phe423Tyr) c.1706T>A (p.Phe569Tyr) c.1619T>A (p.Phe540Tyr) c.1571T>A (p.Phe524Tyr) c.1283T>A (p.Phe428Tyr) c.1718T>A (p.Phe573Tyr) c.1703T>A (p.Phe568Tyr) | |
8 | g.71211221A= | CA1792681649 | EYA1 | c.1633T= (p.Phe545=) c.1531T= (p.Phe511=) c.1528T= (p.Phe510=) c.*912T= (n.*912T=) n.2096T= c.*1310T= (n.*1310T=) c.1720T= (p.Phe574=) c.1615T= (p.Phe539=) n.703T= c.1612T= (p.Phe538=) c.1534T= (p.Phe512=) c.1630T= (p.Phe544=) n.2128T= c.1267T= (p.Phe423=) c.1705T= (p.Phe569=) c.1618T= (p.Phe540=) c.1570T= (p.Phe524=) c.1282T= (p.Phe428=) c.1717T= (p.Phe573=) c.1702T= (p.Phe568=) | |
8 | g.71211221A>C | CA371465949 | EYA1 | c.1633T>G (p.Phe545Val) c.1531T>G (p.Phe511Val) c.1528T>G (p.Phe510Val) c.*912T>G (n.*912T>G) n.2096T>G c.*1310T>G (n.*1310T>G) c.1720T>G (p.Phe574Val) c.1615T>G (p.Phe539Val) n.703T>G c.1612T>G (p.Phe538Val) c.1534T>G (p.Phe512Val) c.1630T>G (p.Phe544Val) n.2128T>G c.1267T>G (p.Phe423Val) c.1705T>G (p.Phe569Val) c.1618T>G (p.Phe540Val) c.1570T>G (p.Phe524Val) c.1282T>G (p.Phe428Val) c.1717T>G (p.Phe573Val) c.1702T>G (p.Phe568Val) | |
8 | g.71211221A>G | CA371465950 | EYA1 | c.1633T>C (p.Phe545Leu) c.1531T>C (p.Phe511Leu) c.1528T>C (p.Phe510Leu) c.*912T>C (n.*912T>C) n.2096T>C c.*1310T>C (n.*1310T>C) c.1720T>C (p.Phe574Leu) c.1615T>C (p.Phe539Leu) n.703T>C c.1612T>C (p.Phe538Leu) c.1534T>C (p.Phe512Leu) c.1630T>C (p.Phe544Leu) n.2128T>C c.1267T>C (p.Phe423Leu) c.1705T>C (p.Phe569Leu) c.1618T>C (p.Phe540Leu) c.1570T>C (p.Phe524Leu) c.1282T>C (p.Phe428Leu) c.1717T>C (p.Phe573Leu) c.1702T>C (p.Phe568Leu) | |
8 | g.71211221A>T | CA371465951 | EYA1 | c.1633T>A (p.Phe545Ile) c.1531T>A (p.Phe511Ile) c.1528T>A (p.Phe510Ile) c.*912T>A (n.*912T>A) n.2096T>A c.*1310T>A (n.*1310T>A) c.1720T>A (p.Phe574Ile) c.1615T>A (p.Phe539Ile) n.703T>A c.1612T>A (p.Phe538Ile) c.1534T>A (p.Phe512Ile) c.1630T>A (p.Phe544Ile) n.2128T>A c.1267T>A (p.Phe423Ile) c.1705T>A (p.Phe569Ile) c.1618T>A (p.Phe540Ile) c.1570T>A (p.Phe524Ile) c.1282T>A (p.Phe428Ile) c.1717T>A (p.Phe573Ile) c.1702T>A (p.Phe568Ile) | dbSNP |
8 | g.71211222C>A | CA371465952 | EYA1 | c.1632G>T (p.Arg544Ser) c.1530G>T (p.Arg510Ser) c.1527G>T (p.Arg509Ser) c.*911G>T (n.*911G>T) n.2095G>T c.*1309G>T (n.*1309G>T) c.1719G>T (p.Arg573Ser) c.1614G>T (p.Arg538Ser) n.702G>T c.1611G>T (p.Arg537Ser) c.1533G>T (p.Arg511Ser) c.1629G>T (p.Arg543Ser) n.2127G>T c.1266G>T (p.Arg422Ser) c.1704G>T (p.Arg568Ser) c.1617G>T (p.Arg539Ser) c.1569G>T (p.Arg523Ser) c.1281G>T (p.Arg427Ser) c.1716G>T (p.Arg572Ser) c.1701G>T (p.Arg567Ser) | gnomAD v4 COSMIC COSMIC |
8 | g.71211222C>G | CA371465953 | EYA1 | c.1632G>C (p.Arg544Ser) c.1530G>C (p.Arg510Ser) c.1527G>C (p.Arg509Ser) c.*911G>C (n.*911G>C) n.2095G>C c.*1309G>C (n.*1309G>C) c.1719G>C (p.Arg573Ser) c.1614G>C (p.Arg538Ser) n.702G>C c.1611G>C (p.Arg537Ser) c.1533G>C (p.Arg511Ser) c.1629G>C (p.Arg543Ser) n.2127G>C c.1266G>C (p.Arg422Ser) c.1704G>C (p.Arg568Ser) c.1617G>C (p.Arg539Ser) c.1569G>C (p.Arg523Ser) c.1281G>C (p.Arg427Ser) c.1716G>C (p.Arg572Ser) c.1701G>C (p.Arg567Ser) | |
8 | g.71211222C>T | CA461323706 | EYA1 | c.1632G>A (p.Arg544=) c.1530G>A (p.Arg510=) c.1527G>A (p.Arg509=) c.*911G>A (n.*911G>A) n.2095G>A c.*1309G>A (n.*1309G>A) c.1719G>A (p.Arg573=) c.1614G>A (p.Arg538=) n.702G>A c.1611G>A (p.Arg537=) c.1533G>A (p.Arg511=) c.1629G>A (p.Arg543=) n.2127G>A c.1266G>A (p.Arg422=) c.1704G>A (p.Arg568=) c.1617G>A (p.Arg539=) c.1569G>A (p.Arg523=) c.1281G>A (p.Arg427=) c.1716G>A (p.Arg572=) c.1701G>A (p.Arg567=) | |
8 | g.71211223C>A | CA371465955 | EYA1 | c.1631G>T (p.Arg544Met) c.1529G>T (p.Arg510Met) c.1526G>T (p.Arg509Met) c.*910G>T (n.*910G>T) n.2094G>T c.*1308G>T (n.*1308G>T) c.1718G>T (p.Arg573Met) c.1613G>T (p.Arg538Met) n.701G>T c.1610G>T (p.Arg537Met) c.1532G>T (p.Arg511Met) c.1628G>T (p.Arg543Met) n.2126G>T c.1265G>T (p.Arg422Met) c.1703G>T (p.Arg568Met) c.1616G>T (p.Arg539Met) c.1568G>T (p.Arg523Met) c.1280G>T (p.Arg427Met) c.1715G>T (p.Arg572Met) c.1700G>T (p.Arg567Met) | gnomAD v4 |
8 | g.71211223C= | CA1792681652 | EYA1 | c.1631G= (p.Arg544=) c.1529G= (p.Arg510=) c.1526G= (p.Arg509=) c.*910G= (n.*910G=) n.2094G= c.*1308G= (n.*1308G=) c.1718G= (p.Arg573=) c.1613G= (p.Arg538=) n.701G= c.1610G= (p.Arg537=) c.1532G= (p.Arg511=) c.1628G= (p.Arg543=) n.2126G= c.1265G= (p.Arg422=) c.1703G= (p.Arg568=) c.1616G= (p.Arg539=) c.1568G= (p.Arg523=) c.1280G= (p.Arg427=) c.1715G= (p.Arg572=) c.1700G= (p.Arg567=) | |
8 | g.71211223C>G | CA371465954 | EYA1 | c.1631G>C (p.Arg544Thr) c.1529G>C (p.Arg510Thr) c.1526G>C (p.Arg509Thr) c.*910G>C (n.*910G>C) n.2094G>C c.*1308G>C (n.*1308G>C) c.1718G>C (p.Arg573Thr) c.1613G>C (p.Arg538Thr) n.701G>C c.1610G>C (p.Arg537Thr) c.1532G>C (p.Arg511Thr) c.1628G>C (p.Arg543Thr) n.2126G>C c.1265G>C (p.Arg422Thr) c.1703G>C (p.Arg568Thr) c.1616G>C (p.Arg539Thr) c.1568G>C (p.Arg523Thr) c.1280G>C (p.Arg427Thr) c.1715G>C (p.Arg572Thr) c.1700G>C (p.Arg567Thr) | |
8 | g.71211223C>T | CA4779398 | EYA1 | c.1631G>A (p.Arg544Lys) c.1529G>A (p.Arg510Lys) c.1526G>A (p.Arg509Lys) c.*910G>A (n.*910G>A) n.2094G>A c.*1308G>A (n.*1308G>A) c.1718G>A (p.Arg573Lys) c.1613G>A (p.Arg538Lys) n.701G>A c.1610G>A (p.Arg537Lys) c.1532G>A (p.Arg511Lys) c.1628G>A (p.Arg543Lys) n.2126G>A c.1265G>A (p.Arg422Lys) c.1703G>A (p.Arg568Lys) c.1616G>A (p.Arg539Lys) c.1568G>A (p.Arg523Lys) c.1280G>A (p.Arg427Lys) c.1715G>A (p.Arg572Lys) c.1700G>A (p.Arg567Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211224T>A | CA371465956 | EYA1 | c.1630A>T (p.Arg544Trp) c.1528A>T (p.Arg510Trp) c.1525A>T (p.Arg509Trp) c.*909A>T (n.*909A>T) n.2093A>T c.*1307A>T (n.*1307A>T) c.1717A>T (p.Arg573Trp) c.1612A>T (p.Arg538Trp) n.700A>T c.1609A>T (p.Arg537Trp) c.1531A>T (p.Arg511Trp) c.1627A>T (p.Arg543Trp) n.2125A>T c.1264A>T (p.Arg422Trp) c.1702A>T (p.Arg568Trp) c.1615A>T (p.Arg539Trp) c.1567A>T (p.Arg523Trp) c.1279A>T (p.Arg427Trp) c.1714A>T (p.Arg572Trp) c.1699A>T (p.Arg567Trp) | |
8 | g.71211224T>C | CA371465957 | EYA1 | c.1630A>G (p.Arg544Gly) c.1528A>G (p.Arg510Gly) c.1525A>G (p.Arg509Gly) c.*909A>G (n.*909A>G) n.2093A>G c.*1307A>G (n.*1307A>G) c.1717A>G (p.Arg573Gly) c.1612A>G (p.Arg538Gly) n.700A>G c.1609A>G (p.Arg537Gly) c.1531A>G (p.Arg511Gly) c.1627A>G (p.Arg543Gly) n.2125A>G c.1264A>G (p.Arg422Gly) c.1702A>G (p.Arg568Gly) c.1615A>G (p.Arg539Gly) c.1567A>G (p.Arg523Gly) c.1279A>G (p.Arg427Gly) c.1714A>G (p.Arg572Gly) c.1699A>G (p.Arg567Gly) | |
8 | g.71211224T>G | CA461323707 | EYA1 | c.1630A>C (p.Arg544=) c.1528A>C (p.Arg510=) c.1525A>C (p.Arg509=) c.*909A>C (n.*909A>C) n.2093A>C c.*1307A>C (n.*1307A>C) c.1717A>C (p.Arg573=) c.1612A>C (p.Arg538=) n.700A>C c.1609A>C (p.Arg537=) c.1531A>C (p.Arg511=) c.1627A>C (p.Arg543=) n.2125A>C c.1264A>C (p.Arg422=) c.1702A>C (p.Arg568=) c.1615A>C (p.Arg539=) c.1567A>C (p.Arg523=) c.1279A>C (p.Arg427=) c.1714A>C (p.Arg572=) c.1699A>C (p.Arg567=) | |
8 | g.71211225T>A | CA371465958 | EYA1 | c.1629A>T (p.Gln543His) c.1527A>T (p.Gln509His) c.1524A>T (p.Gln508His) c.*908A>T (n.*908A>T) n.2092A>T c.*1306A>T (n.*1306A>T) c.1716A>T (p.Gln572His) c.1611A>T (p.Gln537His) n.699A>T c.1608A>T (p.Gln536His) c.1530A>T (p.Gln510His) c.1626A>T (p.Gln542His) n.2124A>T c.1263A>T (p.Gln421His) c.1701A>T (p.Gln567His) c.1614A>T (p.Gln538His) c.1566A>T (p.Gln522His) c.1278A>T (p.Gln426His) c.1713A>T (p.Gln571His) c.1698A>T (p.Gln566His) | |
8 | g.71211225T>C | CA461323708 | EYA1 | c.1629A>G (p.Gln543=) c.1527A>G (p.Gln509=) c.1524A>G (p.Gln508=) c.*908A>G (n.*908A>G) n.2092A>G c.*1306A>G (n.*1306A>G) c.1716A>G (p.Gln572=) c.1611A>G (p.Gln537=) n.699A>G c.1608A>G (p.Gln536=) c.1530A>G (p.Gln510=) c.1626A>G (p.Gln542=) n.2124A>G c.1263A>G (p.Gln421=) c.1701A>G (p.Gln567=) c.1614A>G (p.Gln538=) c.1566A>G (p.Gln522=) c.1278A>G (p.Gln426=) c.1713A>G (p.Gln571=) c.1698A>G (p.Gln566=) | |
8 | g.71211225T>G | CA371465959 | EYA1 | c.1629A>C (p.Gln543His) c.1527A>C (p.Gln509His) c.1524A>C (p.Gln508His) c.*908A>C (n.*908A>C) n.2092A>C c.*1306A>C (n.*1306A>C) c.1716A>C (p.Gln572His) c.1611A>C (p.Gln537His) n.699A>C c.1608A>C (p.Gln536His) c.1530A>C (p.Gln510His) c.1626A>C (p.Gln542His) n.2124A>C c.1263A>C (p.Gln421His) c.1701A>C (p.Gln567His) c.1614A>C (p.Gln538His) c.1566A>C (p.Gln522His) c.1278A>C (p.Gln426His) c.1713A>C (p.Gln571His) c.1698A>C (p.Gln566His) | |
8 | g.71211226T>A | CA371465960 | EYA1 | c.1628A>T (p.Gln543Leu) c.1526A>T (p.Gln509Leu) c.1523A>T (p.Gln508Leu) c.*907A>T (n.*907A>T) n.2091A>T c.*1305A>T (n.*1305A>T) c.1715A>T (p.Gln572Leu) c.1610A>T (p.Gln537Leu) n.698A>T c.1607A>T (p.Gln536Leu) c.1529A>T (p.Gln510Leu) c.1625A>T (p.Gln542Leu) n.2123A>T c.1262A>T (p.Gln421Leu) c.1700A>T (p.Gln567Leu) c.1613A>T (p.Gln538Leu) c.1565A>T (p.Gln522Leu) c.1277A>T (p.Gln426Leu) c.1712A>T (p.Gln571Leu) c.1697A>T (p.Gln566Leu) | |
8 | g.71211226T>C | CA371465961 | EYA1 | c.1628A>G (p.Gln543Arg) c.1526A>G (p.Gln509Arg) c.1523A>G (p.Gln508Arg) c.*907A>G (n.*907A>G) n.2091A>G c.*1305A>G (n.*1305A>G) c.1715A>G (p.Gln572Arg) c.1610A>G (p.Gln537Arg) n.698A>G c.1607A>G (p.Gln536Arg) c.1529A>G (p.Gln510Arg) c.1625A>G (p.Gln542Arg) n.2123A>G c.1262A>G (p.Gln421Arg) c.1700A>G (p.Gln567Arg) c.1613A>G (p.Gln538Arg) c.1565A>G (p.Gln522Arg) c.1277A>G (p.Gln426Arg) c.1712A>G (p.Gln571Arg) c.1697A>G (p.Gln566Arg) | |
8 | g.71211226T>G | CA371465962 | EYA1 | c.1628A>C (p.Gln543Pro) c.1526A>C (p.Gln509Pro) c.1523A>C (p.Gln508Pro) c.*907A>C (n.*907A>C) n.2091A>C c.*1305A>C (n.*1305A>C) c.1715A>C (p.Gln572Pro) c.1610A>C (p.Gln537Pro) n.698A>C c.1607A>C (p.Gln536Pro) c.1529A>C (p.Gln510Pro) c.1625A>C (p.Gln542Pro) n.2123A>C c.1262A>C (p.Gln421Pro) c.1700A>C (p.Gln567Pro) c.1613A>C (p.Gln538Pro) c.1565A>C (p.Gln522Pro) c.1277A>C (p.Gln426Pro) c.1712A>C (p.Gln571Pro) c.1697A>C (p.Gln566Pro) | |
8 | g.71211227G>A | CA371465963 | EYA1 | c.1627C>T (p.Gln543Ter) c.1525C>T (p.Gln509Ter) c.1522C>T (p.Gln508Ter) c.*906C>T (n.*906C>T) n.2090C>T c.*1304C>T (n.*1304C>T) c.1714C>T (p.Gln572Ter) c.1609C>T (p.Gln537Ter) n.697C>T c.1606C>T (p.Gln536Ter) c.1528C>T (p.Gln510Ter) c.1624C>T (p.Gln542Ter) n.2122C>T c.1261C>T (p.Gln421Ter) c.1699C>T (p.Gln567Ter) c.1612C>T (p.Gln538Ter) c.1564C>T (p.Gln522Ter) c.1276C>T (p.Gln426Ter) c.1711C>T (p.Gln571Ter) c.1696C>T (p.Gln566Ter) | ClinVar |
8 | g.71211227G>C | CA371465965 | EYA1 | c.1627C>G (p.Gln543Glu) c.1525C>G (p.Gln509Glu) c.1522C>G (p.Gln508Glu) c.*906C>G (n.*906C>G) n.2090C>G c.*1304C>G (n.*1304C>G) c.1714C>G (p.Gln572Glu) c.1609C>G (p.Gln537Glu) n.697C>G c.1606C>G (p.Gln536Glu) c.1528C>G (p.Gln510Glu) c.1624C>G (p.Gln542Glu) n.2122C>G c.1261C>G (p.Gln421Glu) c.1699C>G (p.Gln567Glu) c.1612C>G (p.Gln538Glu) c.1564C>G (p.Gln522Glu) c.1276C>G (p.Gln426Glu) c.1711C>G (p.Gln571Glu) c.1696C>G (p.Gln566Glu) | |
8 | g.71211227G>T | CA371465964 | EYA1 | c.1627C>A (p.Gln543Lys) c.1525C>A (p.Gln509Lys) c.1522C>A (p.Gln508Lys) c.*906C>A (n.*906C>A) n.2090C>A c.*1304C>A (n.*1304C>A) c.1714C>A (p.Gln572Lys) c.1609C>A (p.Gln537Lys) n.697C>A c.1606C>A (p.Gln536Lys) c.1528C>A (p.Gln510Lys) c.1624C>A (p.Gln542Lys) n.2122C>A c.1261C>A (p.Gln421Lys) c.1699C>A (p.Gln567Lys) c.1612C>A (p.Gln538Lys) c.1564C>A (p.Gln522Lys) c.1276C>A (p.Gln426Lys) c.1711C>A (p.Gln571Lys) c.1696C>A (p.Gln566Lys) | |
8 | g.71211228A= | CA1792681657 | EYA1 | c.1626T= (p.Ile542=) c.1524T= (p.Ile508=) c.1521T= (p.Ile507=) c.*905T= (n.*905T=) n.2089T= c.*1303T= (n.*1303T=) c.1713T= (p.Ile571=) c.1608T= (p.Ile536=) n.696T= c.1605T= (p.Ile535=) c.1527T= (p.Ile509=) c.1623T= (p.Ile541=) n.2121T= c.1260T= (p.Ile420=) c.1698T= (p.Ile566=) c.1611T= (p.Ile537=) c.1563T= (p.Ile521=) c.1275T= (p.Ile425=) c.1710T= (p.Ile570=) c.1695T= (p.Ile565=) | |
8 | g.71211228A>C | CA4779399 | EYA1 | c.1626T>G (p.Ile542Met) c.1524T>G (p.Ile508Met) c.1521T>G (p.Ile507Met) c.*905T>G (n.*905T>G) n.2089T>G c.*1303T>G (n.*1303T>G) c.1713T>G (p.Ile571Met) c.1608T>G (p.Ile536Met) n.696T>G c.1605T>G (p.Ile535Met) c.1527T>G (p.Ile509Met) c.1623T>G (p.Ile541Met) n.2121T>G c.1260T>G (p.Ile420Met) c.1698T>G (p.Ile566Met) c.1611T>G (p.Ile537Met) c.1563T>G (p.Ile521Met) c.1275T>G (p.Ile425Met) c.1710T>G (p.Ile570Met) c.1695T>G (p.Ile565Met) | dbSNP ExAC |
8 | g.71211228A>G | CA461323709 | EYA1 | c.1626T>C (p.Ile542=) c.1524T>C (p.Ile508=) c.1521T>C (p.Ile507=) c.*905T>C (n.*905T>C) n.2089T>C c.*1303T>C (n.*1303T>C) c.1713T>C (p.Ile571=) c.1608T>C (p.Ile536=) n.696T>C c.1605T>C (p.Ile535=) c.1527T>C (p.Ile509=) c.1623T>C (p.Ile541=) n.2121T>C c.1260T>C (p.Ile420=) c.1698T>C (p.Ile566=) c.1611T>C (p.Ile537=) c.1563T>C (p.Ile521=) c.1275T>C (p.Ile425=) c.1710T>C (p.Ile570=) c.1695T>C (p.Ile565=) | |
8 | g.71211228A>T | CA461323710 | EYA1 | c.1626T>A (p.Ile542=) c.1524T>A (p.Ile508=) c.1521T>A (p.Ile507=) c.*905T>A (n.*905T>A) n.2089T>A c.*1303T>A (n.*1303T>A) c.1713T>A (p.Ile571=) c.1608T>A (p.Ile536=) n.696T>A c.1605T>A (p.Ile535=) c.1527T>A (p.Ile509=) c.1623T>A (p.Ile541=) n.2121T>A c.1260T>A (p.Ile420=) c.1698T>A (p.Ile566=) c.1611T>A (p.Ile537=) c.1563T>A (p.Ile521=) c.1275T>A (p.Ile425=) c.1710T>A (p.Ile570=) c.1695T>A (p.Ile565=) | |
8 | g.71211229_71211232dup | CA2739289519 | EYA1 | c.1623_1626dup (p.Gln543AsnfsTer?) c.1521_1524dup (p.Gln509AsnfsTer?) c.1518_1521dup (p.Gln508AsnfsTer?) c.*902_*905dup (n.*902_*905dup) n.2086_2089dup c.*1300_*1303dup (n.*1300_*1303dup) c.1710_1713dup (p.Gln572AsnfsTer?) c.1605_1608dup (p.Gln537AsnfsTer?) n.693_696dup c.1602_1605dup (p.Gln536AsnfsTer?) c.1524_1527dup (p.Gln510AsnfsTer?) c.1620_1623dup (p.Gln542AsnfsTer?) n.2118_2121dup c.1257_1260dup (p.Gln421AsnfsTer?) c.1695_1698dup (p.Gln567AsnfsTer?) c.1608_1611dup (p.Gln538AsnfsTer?) c.1560_1563dup (p.Gln522AsnfsTer?) c.1272_1275dup (p.Gln426AsnfsTer?) c.1707_1710dup (p.Gln571AsnfsTer?) c.1692_1695dup (p.Gln566AsnfsTer?) c.1710_1713dup (p.Gln572AsnfsTer28) | |
8 | g.71211229A= | CA1792681665 | EYA1 | c.1625T= (p.Ile542=) c.1523T= (p.Ile508=) c.1520T= (p.Ile507=) c.*904T= (n.*904T=) n.2088T= c.*1302T= (n.*1302T=) c.1712T= (p.Ile571=) c.1607T= (p.Ile536=) n.695T= c.1604T= (p.Ile535=) c.1526T= (p.Ile509=) c.1622T= (p.Ile541=) n.2120T= c.1259T= (p.Ile420=) c.1697T= (p.Ile566=) c.1610T= (p.Ile537=) c.1562T= (p.Ile521=) c.1274T= (p.Ile425=) c.1709T= (p.Ile570=) c.1694T= (p.Ile565=) | |
8 | g.71211229A>C | CA371465966 | EYA1 | c.1625T>G (p.Ile542Ser) c.1523T>G (p.Ile508Ser) c.1520T>G (p.Ile507Ser) c.*904T>G (n.*904T>G) n.2088T>G c.*1302T>G (n.*1302T>G) c.1712T>G (p.Ile571Ser) c.1607T>G (p.Ile536Ser) n.695T>G c.1604T>G (p.Ile535Ser) c.1526T>G (p.Ile509Ser) c.1622T>G (p.Ile541Ser) n.2120T>G c.1259T>G (p.Ile420Ser) c.1697T>G (p.Ile566Ser) c.1610T>G (p.Ile537Ser) c.1562T>G (p.Ile521Ser) c.1274T>G (p.Ile425Ser) c.1709T>G (p.Ile570Ser) c.1694T>G (p.Ile565Ser) | dbSNP gnomAD v4 |
8 | g.71211229A>G | CA371465967 | EYA1 | c.1625T>C (p.Ile542Thr) c.1523T>C (p.Ile508Thr) c.1520T>C (p.Ile507Thr) c.*904T>C (n.*904T>C) n.2088T>C c.*1302T>C (n.*1302T>C) c.1712T>C (p.Ile571Thr) c.1607T>C (p.Ile536Thr) n.695T>C c.1604T>C (p.Ile535Thr) c.1526T>C (p.Ile509Thr) c.1622T>C (p.Ile541Thr) n.2120T>C c.1259T>C (p.Ile420Thr) c.1697T>C (p.Ile566Thr) c.1610T>C (p.Ile537Thr) c.1562T>C (p.Ile521Thr) c.1274T>C (p.Ile425Thr) c.1709T>C (p.Ile570Thr) c.1694T>C (p.Ile565Thr) | |
8 | g.71211229A>T | CA371465968 | EYA1 | c.1625T>A (p.Ile542Asn) c.1523T>A (p.Ile508Asn) c.1520T>A (p.Ile507Asn) c.*904T>A (n.*904T>A) n.2088T>A c.*1302T>A (n.*1302T>A) c.1712T>A (p.Ile571Asn) c.1607T>A (p.Ile536Asn) n.695T>A c.1604T>A (p.Ile535Asn) c.1526T>A (p.Ile509Asn) c.1622T>A (p.Ile541Asn) n.2120T>A c.1259T>A (p.Ile420Asn) c.1697T>A (p.Ile566Asn) c.1610T>A (p.Ile537Asn) c.1562T>A (p.Ile521Asn) c.1274T>A (p.Ile425Asn) c.1709T>A (p.Ile570Asn) c.1694T>A (p.Ile565Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211230T>A | CA371465969 | EYA1 | c.1624A>T (p.Ile542Phe) c.1522A>T (p.Ile508Phe) c.1519A>T (p.Ile507Phe) c.*903A>T (n.*903A>T) n.2087A>T c.*1301A>T (n.*1301A>T) c.1711A>T (p.Ile571Phe) c.1606A>T (p.Ile536Phe) n.694A>T c.1603A>T (p.Ile535Phe) c.1525A>T (p.Ile509Phe) c.1621A>T (p.Ile541Phe) n.2119A>T c.1258A>T (p.Ile420Phe) c.1696A>T (p.Ile566Phe) c.1609A>T (p.Ile537Phe) c.1561A>T (p.Ile521Phe) c.1273A>T (p.Ile425Phe) c.1708A>T (p.Ile570Phe) c.1693A>T (p.Ile565Phe) | |
8 | g.71211230T>C | CA371465971 | EYA1 | c.1624A>G (p.Ile542Val) c.1522A>G (p.Ile508Val) c.1519A>G (p.Ile507Val) c.*903A>G (n.*903A>G) n.2087A>G c.*1301A>G (n.*1301A>G) c.1711A>G (p.Ile571Val) c.1606A>G (p.Ile536Val) n.694A>G c.1603A>G (p.Ile535Val) c.1525A>G (p.Ile509Val) c.1621A>G (p.Ile541Val) n.2119A>G c.1258A>G (p.Ile420Val) c.1696A>G (p.Ile566Val) c.1609A>G (p.Ile537Val) c.1561A>G (p.Ile521Val) c.1273A>G (p.Ile425Val) c.1708A>G (p.Ile570Val) c.1693A>G (p.Ile565Val) | |
8 | g.71211230T>G | CA371465970 | EYA1 | c.1624A>C (p.Ile542Leu) c.1522A>C (p.Ile508Leu) c.1519A>C (p.Ile507Leu) c.*903A>C (n.*903A>C) n.2087A>C c.*1301A>C (n.*1301A>C) c.1711A>C (p.Ile571Leu) c.1606A>C (p.Ile536Leu) n.694A>C c.1603A>C (p.Ile535Leu) c.1525A>C (p.Ile509Leu) c.1621A>C (p.Ile541Leu) n.2119A>C c.1258A>C (p.Ile420Leu) c.1696A>C (p.Ile566Leu) c.1609A>C (p.Ile537Leu) c.1561A>C (p.Ile521Leu) c.1273A>C (p.Ile425Leu) c.1708A>C (p.Ile570Leu) c.1693A>C (p.Ile565Leu) | gnomAD v4 COSMIC COSMIC |
8 | g.71211231T>A | CA461323711 | EYA1 | c.1623A>T (p.Ile541=) c.1521A>T (p.Ile507=) c.1518A>T (p.Ile506=) c.*902A>T (n.*902A>T) n.2086A>T c.*1300A>T (n.*1300A>T) c.1710A>T (p.Ile570=) c.1605A>T (p.Ile535=) n.693A>T c.1602A>T (p.Ile534=) c.1524A>T (p.Ile508=) c.1620A>T (p.Ile540=) n.2118A>T c.1257A>T (p.Ile419=) c.1695A>T (p.Ile565=) c.1608A>T (p.Ile536=) c.1560A>T (p.Ile520=) c.1272A>T (p.Ile424=) c.1707A>T (p.Ile569=) c.1692A>T (p.Ile564=) | |
8 | g.71211231T>C | CA371465972 | EYA1 | c.1623A>G (p.Ile541Met) c.1521A>G (p.Ile507Met) c.1518A>G (p.Ile506Met) c.*902A>G (n.*902A>G) n.2086A>G c.*1300A>G (n.*1300A>G) c.1710A>G (p.Ile570Met) c.1605A>G (p.Ile535Met) n.693A>G c.1602A>G (p.Ile534Met) c.1524A>G (p.Ile508Met) c.1620A>G (p.Ile540Met) n.2118A>G c.1257A>G (p.Ile419Met) c.1695A>G (p.Ile565Met) c.1608A>G (p.Ile536Met) c.1560A>G (p.Ile520Met) c.1272A>G (p.Ile424Met) c.1707A>G (p.Ile569Met) c.1692A>G (p.Ile564Met) | |
8 | g.71211231T>G | CA461323712 | EYA1 | c.1623A>C (p.Ile541=) c.1521A>C (p.Ile507=) c.1518A>C (p.Ile506=) c.*902A>C (n.*902A>C) n.2086A>C c.*1300A>C (n.*1300A>C) c.1710A>C (p.Ile570=) c.1605A>C (p.Ile535=) n.693A>C c.1602A>C (p.Ile534=) c.1524A>C (p.Ile508=) c.1620A>C (p.Ile540=) n.2118A>C c.1257A>C (p.Ile419=) c.1695A>C (p.Ile565=) c.1608A>C (p.Ile536=) c.1560A>C (p.Ile520=) c.1272A>C (p.Ile424=) c.1707A>C (p.Ile569=) c.1692A>C (p.Ile564=) | |
8 | g.71211232A>C | CA371465973 | EYA1 | c.1622T>G (p.Ile541Arg) c.1520T>G (p.Ile507Arg) c.1517T>G (p.Ile506Arg) c.*901T>G (n.*901T>G) n.2085T>G c.*1299T>G (n.*1299T>G) c.1709T>G (p.Ile570Arg) c.1604T>G (p.Ile535Arg) n.692T>G c.1601T>G (p.Ile534Arg) c.1523T>G (p.Ile508Arg) c.1619T>G (p.Ile540Arg) n.2117T>G c.1256T>G (p.Ile419Arg) c.1694T>G (p.Ile565Arg) c.1607T>G (p.Ile536Arg) c.1559T>G (p.Ile520Arg) c.1271T>G (p.Ile424Arg) c.1706T>G (p.Ile569Arg) c.1691T>G (p.Ile564Arg) | gnomAD v4 |
8 | g.71211232A>G | CA371465974 | EYA1 | c.1622T>C (p.Ile541Thr) c.1520T>C (p.Ile507Thr) c.1517T>C (p.Ile506Thr) c.*901T>C (n.*901T>C) n.2085T>C c.*1299T>C (n.*1299T>C) c.1709T>C (p.Ile570Thr) c.1604T>C (p.Ile535Thr) n.692T>C c.1601T>C (p.Ile534Thr) c.1523T>C (p.Ile508Thr) c.1619T>C (p.Ile540Thr) n.2117T>C c.1256T>C (p.Ile419Thr) c.1694T>C (p.Ile565Thr) c.1607T>C (p.Ile536Thr) c.1559T>C (p.Ile520Thr) c.1271T>C (p.Ile424Thr) c.1706T>C (p.Ile569Thr) c.1691T>C (p.Ile564Thr) | |
8 | g.71211232A>T | CA371465975 | EYA1 | c.1622T>A (p.Ile541Lys) c.1520T>A (p.Ile507Lys) c.1517T>A (p.Ile506Lys) c.*901T>A (n.*901T>A) n.2085T>A c.*1299T>A (n.*1299T>A) c.1709T>A (p.Ile570Lys) c.1604T>A (p.Ile535Lys) n.692T>A c.1601T>A (p.Ile534Lys) c.1523T>A (p.Ile508Lys) c.1619T>A (p.Ile540Lys) n.2117T>A c.1256T>A (p.Ile419Lys) c.1694T>A (p.Ile565Lys) c.1607T>A (p.Ile536Lys) c.1559T>A (p.Ile520Lys) c.1271T>A (p.Ile424Lys) c.1706T>A (p.Ile569Lys) c.1691T>A (p.Ile564Lys) | |
8 | g.71211233T>A | CA371465976 | EYA1 | c.1621A>T (p.Ile541Leu) c.1519A>T (p.Ile507Leu) c.1516A>T (p.Ile506Leu) c.*900A>T (n.*900A>T) n.2084A>T c.*1298A>T (n.*1298A>T) c.1708A>T (p.Ile570Leu) c.1603A>T (p.Ile535Leu) n.691A>T c.1600A>T (p.Ile534Leu) c.1522A>T (p.Ile508Leu) c.1618A>T (p.Ile540Leu) n.2116A>T c.1255A>T (p.Ile419Leu) c.1693A>T (p.Ile565Leu) c.1606A>T (p.Ile536Leu) c.1558A>T (p.Ile520Leu) c.1270A>T (p.Ile424Leu) c.1705A>T (p.Ile569Leu) c.1690A>T (p.Ile564Leu) | |
8 | g.71211233T>C | CA4779400 | EYA1 | c.1621A>G (p.Ile541Val) c.1519A>G (p.Ile507Val) c.1516A>G (p.Ile506Val) c.*900A>G (n.*900A>G) n.2084A>G c.*1298A>G (n.*1298A>G) c.1708A>G (p.Ile570Val) c.1603A>G (p.Ile535Val) n.691A>G c.1600A>G (p.Ile534Val) c.1522A>G (p.Ile508Val) c.1618A>G (p.Ile540Val) n.2116A>G c.1255A>G (p.Ile419Val) c.1693A>G (p.Ile565Val) c.1606A>G (p.Ile536Val) c.1558A>G (p.Ile520Val) c.1270A>G (p.Ile424Val) c.1705A>G (p.Ile569Val) c.1690A>G (p.Ile564Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211233T>G | CA179207109 | EYA1 | c.1621A>C (p.Ile541Leu) c.1519A>C (p.Ile507Leu) c.1516A>C (p.Ile506Leu) c.*900A>C (n.*900A>C) n.2084A>C c.*1298A>C (n.*1298A>C) c.1708A>C (p.Ile570Leu) c.1603A>C (p.Ile535Leu) n.691A>C c.1600A>C (p.Ile534Leu) c.1522A>C (p.Ile508Leu) c.1618A>C (p.Ile540Leu) n.2116A>C c.1255A>C (p.Ile419Leu) c.1693A>C (p.Ile565Leu) c.1606A>C (p.Ile536Leu) c.1558A>C (p.Ile520Leu) c.1270A>C (p.Ile424Leu) c.1705A>C (p.Ile569Leu) c.1690A>C (p.Ile564Leu) | dbSNP gnomAD v4 |
8 | g.71211233T= | CA1792681669 | EYA1 | c.1621A= (p.Ile541=) c.1519A= (p.Ile507=) c.1516A= (p.Ile506=) c.*900A= (n.*900A=) n.2084A= c.*1298A= (n.*1298A=) c.1708A= (p.Ile570=) c.1603A= (p.Ile535=) n.691A= c.1600A= (p.Ile534=) c.1522A= (p.Ile508=) c.1618A= (p.Ile540=) n.2116A= c.1255A= (p.Ile419=) c.1693A= (p.Ile565=) c.1606A= (p.Ile536=) c.1558A= (p.Ile520=) c.1270A= (p.Ile424=) c.1705A= (p.Ile569=) c.1690A= (p.Ile564=) | |
8 | g.71211234T>A | CA179207112 | EYA1 | c.1620A>T (p.Arg540Ser) c.1518A>T (p.Arg506Ser) c.1515A>T (p.Arg505Ser) c.*899A>T (n.*899A>T) n.2083A>T c.*1297A>T (n.*1297A>T) c.1707A>T (p.Arg569Ser) c.1602A>T (p.Arg534Ser) n.690A>T c.1599A>T (p.Arg533Ser) c.1521A>T (p.Arg507Ser) c.1617A>T (p.Arg539Ser) n.2115A>T c.1254A>T (p.Arg418Ser) c.1692A>T (p.Arg564Ser) c.1605A>T (p.Arg535Ser) c.1557A>T (p.Arg519Ser) c.1269A>T (p.Arg423Ser) c.1704A>T (p.Arg568Ser) c.1689A>T (p.Arg563Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211234T>C | CA461323713 | EYA1 | c.1620A>G (p.Arg540=) c.1518A>G (p.Arg506=) c.1515A>G (p.Arg505=) c.*899A>G (n.*899A>G) n.2083A>G c.*1297A>G (n.*1297A>G) c.1707A>G (p.Arg569=) c.1602A>G (p.Arg534=) n.690A>G c.1599A>G (p.Arg533=) c.1521A>G (p.Arg507=) c.1617A>G (p.Arg539=) n.2115A>G c.1254A>G (p.Arg418=) c.1692A>G (p.Arg564=) c.1605A>G (p.Arg535=) c.1557A>G (p.Arg519=) c.1269A>G (p.Arg423=) c.1704A>G (p.Arg568=) c.1689A>G (p.Arg563=) | |
8 | g.71211234T>G | CA371465977 | EYA1 | c.1620A>C (p.Arg540Ser) c.1518A>C (p.Arg506Ser) c.1515A>C (p.Arg505Ser) c.*899A>C (n.*899A>C) n.2083A>C c.*1297A>C (n.*1297A>C) c.1707A>C (p.Arg569Ser) c.1602A>C (p.Arg534Ser) n.690A>C c.1599A>C (p.Arg533Ser) c.1521A>C (p.Arg507Ser) c.1617A>C (p.Arg539Ser) n.2115A>C c.1254A>C (p.Arg418Ser) c.1692A>C (p.Arg564Ser) c.1605A>C (p.Arg535Ser) c.1557A>C (p.Arg519Ser) c.1269A>C (p.Arg423Ser) c.1704A>C (p.Arg568Ser) c.1689A>C (p.Arg563Ser) | |
8 | g.71211234T= | CA1792681672 | EYA1 | c.1620A= (p.Arg540=) c.1518A= (p.Arg506=) c.1515A= (p.Arg505=) c.*899A= (n.*899A=) n.2083A= c.*1297A= (n.*1297A=) c.1707A= (p.Arg569=) c.1602A= (p.Arg534=) n.690A= c.1599A= (p.Arg533=) c.1521A= (p.Arg507=) c.1617A= (p.Arg539=) n.2115A= c.1254A= (p.Arg418=) c.1692A= (p.Arg564=) c.1605A= (p.Arg535=) c.1557A= (p.Arg519=) c.1269A= (p.Arg423=) c.1704A= (p.Arg568=) c.1689A= (p.Arg563=) | |
8 | g.71211238_71211239del | CA2580617176 | EYA1 | c.1619_1620del (p.Arg540AsnfsTer?) c.1517_1518del (p.Arg506AsnfsTer?) c.1514_1515del (p.Arg505AsnfsTer?) c.*898_*899del (n.*898_*899del) n.2082_2083del c.*1296_*1297del (n.*1296_*1297del) c.1706_1707del (p.Arg569AsnfsTer?) c.1601_1602del (p.Arg534AsnfsTer?) n.689_690del c.1598_1599del (p.Arg533AsnfsTer?) c.1520_1521del (p.Arg507AsnfsTer?) c.1616_1617del (p.Arg539AsnfsTer?) n.2114_2115del c.1253_1254del (p.Arg418AsnfsTer?) c.1691_1692del (p.Arg564AsnfsTer?) c.1604_1605del (p.Arg535AsnfsTer?) c.1556_1557del (p.Arg519AsnfsTer?) c.1268_1269del (p.Arg423AsnfsTer?) c.1703_1704del (p.Arg568AsnfsTer?) c.1688_1689del (p.Arg563AsnfsTer?) c.1706_1707del (p.Arg569AsnfsTer29) | ClinVar dbSNP |
8 | g.71211235C>A | CA371465978 | EYA1 | c.1619G>T (p.Arg540Ile) c.1517G>T (p.Arg506Ile) c.1514G>T (p.Arg505Ile) c.*898G>T (n.*898G>T) n.2082G>T c.*1296G>T (n.*1296G>T) c.1706G>T (p.Arg569Ile) c.1601G>T (p.Arg534Ile) n.689G>T c.1598G>T (p.Arg533Ile) c.1520G>T (p.Arg507Ile) c.1616G>T (p.Arg539Ile) n.2114G>T c.1253G>T (p.Arg418Ile) c.1691G>T (p.Arg564Ile) c.1604G>T (p.Arg535Ile) c.1556G>T (p.Arg519Ile) c.1268G>T (p.Arg423Ile) c.1703G>T (p.Arg568Ile) c.1688G>T (p.Arg563Ile) | |
8 | g.71211235C>G | CA371465979 | EYA1 | c.1619G>C (p.Arg540Thr) c.1517G>C (p.Arg506Thr) c.1514G>C (p.Arg505Thr) c.*898G>C (n.*898G>C) n.2082G>C c.*1296G>C (n.*1296G>C) c.1706G>C (p.Arg569Thr) c.1601G>C (p.Arg534Thr) n.689G>C c.1598G>C (p.Arg533Thr) c.1520G>C (p.Arg507Thr) c.1616G>C (p.Arg539Thr) n.2114G>C c.1253G>C (p.Arg418Thr) c.1691G>C (p.Arg564Thr) c.1604G>C (p.Arg535Thr) c.1556G>C (p.Arg519Thr) c.1268G>C (p.Arg423Thr) c.1703G>C (p.Arg568Thr) c.1688G>C (p.Arg563Thr) | |
8 | g.71211235C>T | CA371465980 | EYA1 | c.1619G>A (p.Arg540Lys) c.1517G>A (p.Arg506Lys) c.1514G>A (p.Arg505Lys) c.*898G>A (n.*898G>A) n.2082G>A c.*1296G>A (n.*1296G>A) c.1706G>A (p.Arg569Lys) c.1601G>A (p.Arg534Lys) n.689G>A c.1598G>A (p.Arg533Lys) c.1520G>A (p.Arg507Lys) c.1616G>A (p.Arg539Lys) n.2114G>A c.1253G>A (p.Arg418Lys) c.1691G>A (p.Arg564Lys) c.1604G>A (p.Arg535Lys) c.1556G>A (p.Arg519Lys) c.1268G>A (p.Arg423Lys) c.1703G>A (p.Arg568Lys) c.1688G>A (p.Arg563Lys) | |
8 | g.71211236T>A | CA371465981 | EYA1 | c.1618A>T (p.Arg540Ter) c.1516A>T (p.Arg506Ter) c.1513A>T (p.Arg505Ter) c.*897A>T (n.*897A>T) n.2081A>T c.*1295A>T (n.*1295A>T) c.1705A>T (p.Arg569Ter) c.1600A>T (p.Arg534Ter) n.688A>T c.1597A>T (p.Arg533Ter) c.1519A>T (p.Arg507Ter) c.1615A>T (p.Arg539Ter) n.2113A>T c.1252A>T (p.Arg418Ter) c.1690A>T (p.Arg564Ter) c.1603A>T (p.Arg535Ter) c.1555A>T (p.Arg519Ter) c.1267A>T (p.Arg423Ter) c.1702A>T (p.Arg568Ter) c.1687A>T (p.Arg563Ter) | |
8 | g.71211236T>C | CA371465982 | EYA1 | c.1618A>G (p.Arg540Gly) c.1516A>G (p.Arg506Gly) c.1513A>G (p.Arg505Gly) c.*897A>G (n.*897A>G) n.2081A>G c.*1295A>G (n.*1295A>G) c.1705A>G (p.Arg569Gly) c.1600A>G (p.Arg534Gly) n.688A>G c.1597A>G (p.Arg533Gly) c.1519A>G (p.Arg507Gly) c.1615A>G (p.Arg539Gly) n.2113A>G c.1252A>G (p.Arg418Gly) c.1690A>G (p.Arg564Gly) c.1603A>G (p.Arg535Gly) c.1555A>G (p.Arg519Gly) c.1267A>G (p.Arg423Gly) c.1702A>G (p.Arg568Gly) c.1687A>G (p.Arg563Gly) | ClinVar |
8 | g.71211236T>G | CA461323714 | EYA1 | c.1618A>C (p.Arg540=) c.1516A>C (p.Arg506=) c.1513A>C (p.Arg505=) c.*897A>C (n.*897A>C) n.2081A>C c.*1295A>C (n.*1295A>C) c.1705A>C (p.Arg569=) c.1600A>C (p.Arg534=) n.688A>C c.1597A>C (p.Arg533=) c.1519A>C (p.Arg507=) c.1615A>C (p.Arg539=) n.2113A>C c.1252A>C (p.Arg418=) c.1690A>C (p.Arg564=) c.1603A>C (p.Arg535=) c.1555A>C (p.Arg519=) c.1267A>C (p.Arg423=) c.1702A>C (p.Arg568=) c.1687A>C (p.Arg563=) | |
8 | g.71211237C>A | CA371465983 | EYA1 | c.1617G>T (p.Glu539Asp) c.1515G>T (p.Glu505Asp) c.1512G>T (p.Glu504Asp) c.*896G>T (n.*896G>T) n.2080G>T c.*1294G>T (n.*1294G>T) c.1704G>T (p.Glu568Asp) c.1599G>T (p.Glu533Asp) n.687G>T c.1596G>T (p.Glu532Asp) c.1518G>T (p.Glu506Asp) c.1614G>T (p.Glu538Asp) n.2112G>T c.1251G>T (p.Glu417Asp) c.1689G>T (p.Glu563Asp) c.1602G>T (p.Glu534Asp) c.1554G>T (p.Glu518Asp) c.1266G>T (p.Glu422Asp) c.1701G>T (p.Glu567Asp) c.1686G>T (p.Glu562Asp) | |
8 | g.71211237C>G | CA371465984 | EYA1 | c.1617G>C (p.Glu539Asp) c.1515G>C (p.Glu505Asp) c.1512G>C (p.Glu504Asp) c.*896G>C (n.*896G>C) n.2080G>C c.*1294G>C (n.*1294G>C) c.1704G>C (p.Glu568Asp) c.1599G>C (p.Glu533Asp) n.687G>C c.1596G>C (p.Glu532Asp) c.1518G>C (p.Glu506Asp) c.1614G>C (p.Glu538Asp) n.2112G>C c.1251G>C (p.Glu417Asp) c.1689G>C (p.Glu563Asp) c.1602G>C (p.Glu534Asp) c.1554G>C (p.Glu518Asp) c.1266G>C (p.Glu422Asp) c.1701G>C (p.Glu567Asp) c.1686G>C (p.Glu562Asp) | |
8 | g.71211237C>T | CA461323715 | EYA1 | c.1617G>A (p.Glu539=) c.1515G>A (p.Glu505=) c.1512G>A (p.Glu504=) c.*896G>A (n.*896G>A) n.2080G>A c.*1294G>A (n.*1294G>A) c.1704G>A (p.Glu568=) c.1599G>A (p.Glu533=) n.687G>A c.1596G>A (p.Glu532=) c.1518G>A (p.Glu506=) c.1614G>A (p.Glu538=) n.2112G>A c.1251G>A (p.Glu417=) c.1689G>A (p.Glu563=) c.1602G>A (p.Glu534=) c.1554G>A (p.Glu518=) c.1266G>A (p.Glu422=) c.1701G>A (p.Glu567=) c.1686G>A (p.Glu562=) | |
8 | g.71211238T>A | CA371465985 | EYA1 | c.1616A>T (p.Glu539Val) c.1514A>T (p.Glu505Val) c.1511A>T (p.Glu504Val) c.*895A>T (n.*895A>T) n.2079A>T c.*1293A>T (n.*1293A>T) c.1703A>T (p.Glu568Val) c.1598A>T (p.Glu533Val) n.686A>T c.1595A>T (p.Glu532Val) c.1517A>T (p.Glu506Val) c.1613A>T (p.Glu538Val) n.2111A>T c.1250A>T (p.Glu417Val) c.1688A>T (p.Glu563Val) c.1601A>T (p.Glu534Val) c.1553A>T (p.Glu518Val) c.1265A>T (p.Glu422Val) c.1700A>T (p.Glu567Val) c.1685A>T (p.Glu562Val) | |
8 | g.71211238T>C | CA371465987 | EYA1 | c.1616A>G (p.Glu539Gly) c.1514A>G (p.Glu505Gly) c.1511A>G (p.Glu504Gly) c.*895A>G (n.*895A>G) n.2079A>G c.*1293A>G (n.*1293A>G) c.1703A>G (p.Glu568Gly) c.1598A>G (p.Glu533Gly) n.686A>G c.1595A>G (p.Glu532Gly) c.1517A>G (p.Glu506Gly) c.1613A>G (p.Glu538Gly) n.2111A>G c.1250A>G (p.Glu417Gly) c.1688A>G (p.Glu563Gly) c.1601A>G (p.Glu534Gly) c.1553A>G (p.Glu518Gly) c.1265A>G (p.Glu422Gly) c.1700A>G (p.Glu567Gly) c.1685A>G (p.Glu562Gly) | |
8 | g.71211238T>G | CA371465986 | EYA1 | c.1616A>C (p.Glu539Ala) c.1514A>C (p.Glu505Ala) c.1511A>C (p.Glu504Ala) c.*895A>C (n.*895A>C) n.2079A>C c.*1293A>C (n.*1293A>C) c.1703A>C (p.Glu568Ala) c.1598A>C (p.Glu533Ala) n.686A>C c.1595A>C (p.Glu532Ala) c.1517A>C (p.Glu506Ala) c.1613A>C (p.Glu538Ala) n.2111A>C c.1250A>C (p.Glu417Ala) c.1688A>C (p.Glu563Ala) c.1601A>C (p.Glu534Ala) c.1553A>C (p.Glu518Ala) c.1265A>C (p.Glu422Ala) c.1700A>C (p.Glu567Ala) c.1685A>C (p.Glu562Ala) | |
8 | g.71211239C>A | CA16616910 | EYA1 | c.1615G>T (p.Glu539Ter) c.1513G>T (p.Glu505Ter) c.1510G>T (p.Glu504Ter) c.*894G>T (n.*894G>T) n.2078G>T c.*1292G>T (n.*1292G>T) c.1702G>T (p.Glu568Ter) c.1597G>T (p.Glu533Ter) n.685G>T c.1594G>T (p.Glu532Ter) c.1516G>T (p.Glu506Ter) c.1612G>T (p.Glu538Ter) n.2110G>T c.1249G>T (p.Glu417Ter) c.1687G>T (p.Glu563Ter) c.1600G>T (p.Glu534Ter) c.1552G>T (p.Glu518Ter) c.1264G>T (p.Glu422Ter) c.1699G>T (p.Glu567Ter) c.1684G>T (p.Glu562Ter) | ClinVar dbSNP |
8 | g.71211239C= | CA1792681678 | EYA1 | c.1615G= (p.Glu539=) c.1513G= (p.Glu505=) c.1510G= (p.Glu504=) c.*894G= (n.*894G=) n.2078G= c.*1292G= (n.*1292G=) c.1702G= (p.Glu568=) c.1597G= (p.Glu533=) n.685G= c.1594G= (p.Glu532=) c.1516G= (p.Glu506=) c.1612G= (p.Glu538=) n.2110G= c.1249G= (p.Glu417=) c.1687G= (p.Glu563=) c.1600G= (p.Glu534=) c.1552G= (p.Glu518=) c.1264G= (p.Glu422=) c.1699G= (p.Glu567=) c.1684G= (p.Glu562=) | |
8 | g.71211239C>G | CA371465988 | EYA1 | c.1615G>C (p.Glu539Gln) c.1513G>C (p.Glu505Gln) c.1510G>C (p.Glu504Gln) c.*894G>C (n.*894G>C) n.2078G>C c.*1292G>C (n.*1292G>C) c.1702G>C (p.Glu568Gln) c.1597G>C (p.Glu533Gln) n.685G>C c.1594G>C (p.Glu532Gln) c.1516G>C (p.Glu506Gln) c.1612G>C (p.Glu538Gln) n.2110G>C c.1249G>C (p.Glu417Gln) c.1687G>C (p.Glu563Gln) c.1600G>C (p.Glu534Gln) c.1552G>C (p.Glu518Gln) c.1264G>C (p.Glu422Gln) c.1699G>C (p.Glu567Gln) c.1684G>C (p.Glu562Gln) | |
8 | g.71211239C>T | CA371465989 | EYA1 | c.1615G>A (p.Glu539Lys) c.1513G>A (p.Glu505Lys) c.1510G>A (p.Glu504Lys) c.*894G>A (n.*894G>A) n.2078G>A c.*1292G>A (n.*1292G>A) c.1702G>A (p.Glu568Lys) c.1597G>A (p.Glu533Lys) n.685G>A c.1594G>A (p.Glu532Lys) c.1516G>A (p.Glu506Lys) c.1612G>A (p.Glu538Lys) n.2110G>A c.1249G>A (p.Glu417Lys) c.1687G>A (p.Glu563Lys) c.1600G>A (p.Glu534Lys) c.1552G>A (p.Glu518Lys) c.1264G>A (p.Glu422Lys) c.1699G>A (p.Glu567Lys) c.1684G>A (p.Glu562Lys) | |
8 | g.71211239_71211242dup | CA2695209816 | EYA1 | c.1612_1615dup (p.Glu539ValfsTer2) c.1510_1513dup (p.Glu505ValfsTer2) c.1507_1510dup (p.Glu504ValfsTer2) c.*891_*894dup (n.*891_*894dup) n.2075_2078dup c.*1289_*1292dup (n.*1289_*1292dup) c.1699_1702dup (p.Glu568ValfsTer2) c.1594_1597dup (p.Glu533ValfsTer2) n.682_685dup c.1591_1594dup (p.Glu532ValfsTer2) c.1513_1516dup (p.Glu506ValfsTer2) c.1609_1612dup (p.Glu538ValfsTer2) n.2107_2110dup c.1246_1249dup (p.Glu417ValfsTer2) c.1684_1687dup (p.Glu563ValfsTer2) c.1597_1600dup (p.Glu534ValfsTer2) c.1549_1552dup (p.Glu518ValfsTer2) c.1261_1264dup (p.Glu422ValfsTer2) c.1696_1699dup (p.Glu567ValfsTer2) c.1681_1684dup (p.Glu562ValfsTer2) | |
8 | g.71211240A>C | CA371465990 | EYA1 | c.1614T>G (p.Phe538Leu) c.1512T>G (p.Phe504Leu) c.1509T>G (p.Phe503Leu) c.*893T>G (n.*893T>G) n.2077T>G c.*1291T>G (n.*1291T>G) c.1701T>G (p.Phe567Leu) c.1596T>G (p.Phe532Leu) n.684T>G c.1593T>G (p.Phe531Leu) c.1515T>G (p.Phe505Leu) c.1611T>G (p.Phe537Leu) n.2109T>G c.1248T>G (p.Phe416Leu) c.1686T>G (p.Phe562Leu) c.1599T>G (p.Phe533Leu) c.1551T>G (p.Phe517Leu) c.1263T>G (p.Phe421Leu) c.1698T>G (p.Phe566Leu) c.1683T>G (p.Phe561Leu) | |
8 | g.71211240A>G | CA461323716 | EYA1 | c.1614T>C (p.Phe538=) c.1512T>C (p.Phe504=) c.1509T>C (p.Phe503=) c.*893T>C (n.*893T>C) n.2077T>C c.*1291T>C (n.*1291T>C) c.1701T>C (p.Phe567=) c.1596T>C (p.Phe532=) n.684T>C c.1593T>C (p.Phe531=) c.1515T>C (p.Phe505=) c.1611T>C (p.Phe537=) n.2109T>C c.1248T>C (p.Phe416=) c.1686T>C (p.Phe562=) c.1599T>C (p.Phe533=) c.1551T>C (p.Phe517=) c.1263T>C (p.Phe421=) c.1698T>C (p.Phe566=) c.1683T>C (p.Phe561=) | |
8 | g.71211240A>T | CA371465991 | EYA1 | c.1614T>A (p.Phe538Leu) c.1512T>A (p.Phe504Leu) c.1509T>A (p.Phe503Leu) c.*893T>A (n.*893T>A) n.2077T>A c.*1291T>A (n.*1291T>A) c.1701T>A (p.Phe567Leu) c.1596T>A (p.Phe532Leu) n.684T>A c.1593T>A (p.Phe531Leu) c.1515T>A (p.Phe505Leu) c.1611T>A (p.Phe537Leu) n.2109T>A c.1248T>A (p.Phe416Leu) c.1686T>A (p.Phe562Leu) c.1599T>A (p.Phe533Leu) c.1551T>A (p.Phe517Leu) c.1263T>A (p.Phe421Leu) c.1698T>A (p.Phe566Leu) c.1683T>A (p.Phe561Leu) | |
8 | g.71211241A>C | CA371465992 | EYA1 | c.1613T>G (p.Phe538Cys) c.1511T>G (p.Phe504Cys) c.1508T>G (p.Phe503Cys) c.*892T>G (n.*892T>G) n.2076T>G c.*1290T>G (n.*1290T>G) c.1700T>G (p.Phe567Cys) c.1595T>G (p.Phe532Cys) n.683T>G c.1592T>G (p.Phe531Cys) c.1514T>G (p.Phe505Cys) c.1610T>G (p.Phe537Cys) n.2108T>G c.1247T>G (p.Phe416Cys) c.1685T>G (p.Phe562Cys) c.1598T>G (p.Phe533Cys) c.1550T>G (p.Phe517Cys) c.1262T>G (p.Phe421Cys) c.1697T>G (p.Phe566Cys) c.1682T>G (p.Phe561Cys) | |
8 | g.71211241A>G | CA371465993 | EYA1 | c.1613T>C (p.Phe538Ser) c.1511T>C (p.Phe504Ser) c.1508T>C (p.Phe503Ser) c.*892T>C (n.*892T>C) n.2076T>C c.*1290T>C (n.*1290T>C) c.1700T>C (p.Phe567Ser) c.1595T>C (p.Phe532Ser) n.683T>C c.1592T>C (p.Phe531Ser) c.1514T>C (p.Phe505Ser) c.1610T>C (p.Phe537Ser) n.2108T>C c.1247T>C (p.Phe416Ser) c.1685T>C (p.Phe562Ser) c.1598T>C (p.Phe533Ser) c.1550T>C (p.Phe517Ser) c.1262T>C (p.Phe421Ser) c.1697T>C (p.Phe566Ser) c.1682T>C (p.Phe561Ser) | |
8 | g.71211241A>T | CA371465994 | EYA1 | c.1613T>A (p.Phe538Tyr) c.1511T>A (p.Phe504Tyr) c.1508T>A (p.Phe503Tyr) c.*892T>A (n.*892T>A) n.2076T>A c.*1290T>A (n.*1290T>A) c.1700T>A (p.Phe567Tyr) c.1595T>A (p.Phe532Tyr) n.683T>A c.1592T>A (p.Phe531Tyr) c.1514T>A (p.Phe505Tyr) c.1610T>A (p.Phe537Tyr) n.2108T>A c.1247T>A (p.Phe416Tyr) c.1685T>A (p.Phe562Tyr) c.1598T>A (p.Phe533Tyr) c.1550T>A (p.Phe517Tyr) c.1262T>A (p.Phe421Tyr) c.1697T>A (p.Phe566Tyr) c.1682T>A (p.Phe561Tyr) | |
8 | g.71211242A>C | CA371465995 | EYA1 | c.1612T>G (p.Phe538Val) c.1510T>G (p.Phe504Val) c.1507T>G (p.Phe503Val) c.*891T>G (n.*891T>G) n.2075T>G c.*1289T>G (n.*1289T>G) c.1699T>G (p.Phe567Val) c.1594T>G (p.Phe532Val) n.682T>G c.1591T>G (p.Phe531Val) c.1513T>G (p.Phe505Val) c.1609T>G (p.Phe537Val) n.2107T>G c.1246T>G (p.Phe416Val) c.1684T>G (p.Phe562Val) c.1597T>G (p.Phe533Val) c.1549T>G (p.Phe517Val) c.1261T>G (p.Phe421Val) c.1696T>G (p.Phe566Val) c.1681T>G (p.Phe561Val) | |
8 | g.71211242A>G | CA371465996 | EYA1 | c.1612T>C (p.Phe538Leu) c.1510T>C (p.Phe504Leu) c.1507T>C (p.Phe503Leu) c.*891T>C (n.*891T>C) n.2075T>C c.*1289T>C (n.*1289T>C) c.1699T>C (p.Phe567Leu) c.1594T>C (p.Phe532Leu) n.682T>C c.1591T>C (p.Phe531Leu) c.1513T>C (p.Phe505Leu) c.1609T>C (p.Phe537Leu) n.2107T>C c.1246T>C (p.Phe416Leu) c.1684T>C (p.Phe562Leu) c.1597T>C (p.Phe533Leu) c.1549T>C (p.Phe517Leu) c.1261T>C (p.Phe421Leu) c.1696T>C (p.Phe566Leu) c.1681T>C (p.Phe561Leu) | |
8 | g.71211242A>T | CA371465997 | EYA1 | c.1612T>A (p.Phe538Ile) c.1510T>A (p.Phe504Ile) c.1507T>A (p.Phe503Ile) c.*891T>A (n.*891T>A) n.2075T>A c.*1289T>A (n.*1289T>A) c.1699T>A (p.Phe567Ile) c.1594T>A (p.Phe532Ile) n.682T>A c.1591T>A (p.Phe531Ile) c.1513T>A (p.Phe505Ile) c.1609T>A (p.Phe537Ile) n.2107T>A c.1246T>A (p.Phe416Ile) c.1684T>A (p.Phe562Ile) c.1597T>A (p.Phe533Ile) c.1549T>A (p.Phe517Ile) c.1261T>A (p.Phe421Ile) c.1696T>A (p.Phe566Ile) c.1681T>A (p.Phe561Ile) | |
8 | g.71211243A>C | CA371465998 | EYA1 | c.1611T>G (p.Cys537Trp) c.1509T>G (p.Cys503Trp) c.1506T>G (p.Cys502Trp) c.*890T>G (n.*890T>G) n.2074T>G c.*1288T>G (n.*1288T>G) c.1698T>G (p.Cys566Trp) c.1593T>G (p.Cys531Trp) n.681T>G c.1590T>G (p.Cys530Trp) c.1512T>G (p.Cys504Trp) c.1608T>G (p.Cys536Trp) n.2106T>G c.1245T>G (p.Cys415Trp) c.1683T>G (p.Cys561Trp) c.1596T>G (p.Cys532Trp) c.1548T>G (p.Cys516Trp) c.1260T>G (p.Cys420Trp) c.1695T>G (p.Cys565Trp) c.1680T>G (p.Cys560Trp) | |
8 | g.71211243A>G | CA461323717 | EYA1 | c.1611T>C (p.Cys537=) c.1509T>C (p.Cys503=) c.1506T>C (p.Cys502=) c.*890T>C (n.*890T>C) n.2074T>C c.*1288T>C (n.*1288T>C) c.1698T>C (p.Cys566=) c.1593T>C (p.Cys531=) n.681T>C c.1590T>C (p.Cys530=) c.1512T>C (p.Cys504=) c.1608T>C (p.Cys536=) n.2106T>C c.1245T>C (p.Cys415=) c.1683T>C (p.Cys561=) c.1596T>C (p.Cys532=) c.1548T>C (p.Cys516=) c.1260T>C (p.Cys420=) c.1695T>C (p.Cys565=) c.1680T>C (p.Cys560=) | |
8 | g.71211243A>T | CA371465999 | EYA1 | c.1611T>A (p.Cys537Ter) c.1509T>A (p.Cys503Ter) c.1506T>A (p.Cys502Ter) c.*890T>A (n.*890T>A) n.2074T>A c.*1288T>A (n.*1288T>A) c.1698T>A (p.Cys566Ter) c.1593T>A (p.Cys531Ter) n.681T>A c.1590T>A (p.Cys530Ter) c.1512T>A (p.Cys504Ter) c.1608T>A (p.Cys536Ter) n.2106T>A c.1245T>A (p.Cys415Ter) c.1683T>A (p.Cys561Ter) c.1596T>A (p.Cys532Ter) c.1548T>A (p.Cys516Ter) c.1260T>A (p.Cys420Ter) c.1695T>A (p.Cys565Ter) c.1680T>A (p.Cys560Ter) | ClinVar |
8 | g.71211244C>A | CA371466002 | EYA1 | c.1610G>T (p.Cys537Phe) c.1508G>T (p.Cys503Phe) c.1505G>T (p.Cys502Phe) c.*889G>T (n.*889G>T) n.2073G>T c.*1287G>T (n.*1287G>T) c.1697G>T (p.Cys566Phe) c.1592G>T (p.Cys531Phe) n.680G>T c.1589G>T (p.Cys530Phe) c.1511G>T (p.Cys504Phe) c.1607G>T (p.Cys536Phe) n.2105G>T c.1244G>T (p.Cys415Phe) c.1682G>T (p.Cys561Phe) c.1595G>T (p.Cys532Phe) c.1547G>T (p.Cys516Phe) c.1259G>T (p.Cys420Phe) c.1694G>T (p.Cys565Phe) c.1679G>T (p.Cys560Phe) | dbSNP |
8 | g.71211244C= | CA1792681684 | EYA1 | c.1610G= (p.Cys537=) c.1508G= (p.Cys503=) c.1505G= (p.Cys502=) c.*889G= (n.*889G=) n.2073G= c.*1287G= (n.*1287G=) c.1697G= (p.Cys566=) c.1592G= (p.Cys531=) n.680G= c.1589G= (p.Cys530=) c.1511G= (p.Cys504=) c.1607G= (p.Cys536=) n.2105G= c.1244G= (p.Cys415=) c.1682G= (p.Cys561=) c.1595G= (p.Cys532=) c.1547G= (p.Cys516=) c.1259G= (p.Cys420=) c.1694G= (p.Cys565=) c.1679G= (p.Cys560=) | |
8 | g.71211244C>G | CA371466001 | EYA1 | c.1610G>C (p.Cys537Ser) c.1508G>C (p.Cys503Ser) c.1505G>C (p.Cys502Ser) c.*889G>C (n.*889G>C) n.2073G>C c.*1287G>C (n.*1287G>C) c.1697G>C (p.Cys566Ser) c.1592G>C (p.Cys531Ser) n.680G>C c.1589G>C (p.Cys530Ser) c.1511G>C (p.Cys504Ser) c.1607G>C (p.Cys536Ser) n.2105G>C c.1244G>C (p.Cys415Ser) c.1682G>C (p.Cys561Ser) c.1595G>C (p.Cys532Ser) c.1547G>C (p.Cys516Ser) c.1259G>C (p.Cys420Ser) c.1694G>C (p.Cys565Ser) c.1679G>C (p.Cys560Ser) | dbSNP |
8 | g.71211244C>T | CA371466000 | EYA1 | c.1610G>A (p.Cys537Tyr) c.1508G>A (p.Cys503Tyr) c.1505G>A (p.Cys502Tyr) c.*889G>A (n.*889G>A) n.2073G>A c.*1287G>A (n.*1287G>A) c.1697G>A (p.Cys566Tyr) c.1592G>A (p.Cys531Tyr) n.680G>A c.1589G>A (p.Cys530Tyr) c.1511G>A (p.Cys504Tyr) c.1607G>A (p.Cys536Tyr) n.2105G>A c.1244G>A (p.Cys415Tyr) c.1682G>A (p.Cys561Tyr) c.1595G>A (p.Cys532Tyr) c.1547G>A (p.Cys516Tyr) c.1259G>A (p.Cys420Tyr) c.1694G>A (p.Cys565Tyr) c.1679G>A (p.Cys560Tyr) | |
8 | g.71211245A= | CA1792681688 | EYA1 | c.1609T= (p.Cys537=) c.1507T= (p.Cys503=) c.1504T= (p.Cys502=) c.*888T= (n.*888T=) n.2072T= c.*1286T= (n.*1286T=) c.1696T= (p.Cys566=) c.1591T= (p.Cys531=) n.679T= c.1588T= (p.Cys530=) c.1510T= (p.Cys504=) c.1606T= (p.Cys536=) n.2104T= c.1243T= (p.Cys415=) c.1681T= (p.Cys561=) c.1594T= (p.Cys532=) c.1546T= (p.Cys516=) c.1258T= (p.Cys420=) c.1693T= (p.Cys565=) c.1678T= (p.Cys560=) | |
8 | g.71211245A>C | CA371466003 | EYA1 | c.1609T>G (p.Cys537Gly) c.1507T>G (p.Cys503Gly) c.1504T>G (p.Cys502Gly) c.*888T>G (n.*888T>G) n.2072T>G c.*1286T>G (n.*1286T>G) c.1696T>G (p.Cys566Gly) c.1591T>G (p.Cys531Gly) n.679T>G c.1588T>G (p.Cys530Gly) c.1510T>G (p.Cys504Gly) c.1606T>G (p.Cys536Gly) n.2104T>G c.1243T>G (p.Cys415Gly) c.1681T>G (p.Cys561Gly) c.1594T>G (p.Cys532Gly) c.1546T>G (p.Cys516Gly) c.1258T>G (p.Cys420Gly) c.1693T>G (p.Cys565Gly) c.1678T>G (p.Cys560Gly) | |
8 | g.71211245A>G | CA371466004 | EYA1 | c.1609T>C (p.Cys537Arg) c.1507T>C (p.Cys503Arg) c.1504T>C (p.Cys502Arg) c.*888T>C (n.*888T>C) n.2072T>C c.*1286T>C (n.*1286T>C) c.1696T>C (p.Cys566Arg) c.1591T>C (p.Cys531Arg) n.679T>C c.1588T>C (p.Cys530Arg) c.1510T>C (p.Cys504Arg) c.1606T>C (p.Cys536Arg) n.2104T>C c.1243T>C (p.Cys415Arg) c.1681T>C (p.Cys561Arg) c.1594T>C (p.Cys532Arg) c.1546T>C (p.Cys516Arg) c.1258T>C (p.Cys420Arg) c.1693T>C (p.Cys565Arg) c.1678T>C (p.Cys560Arg) | ClinVar dbSNP |
8 | g.71211245A>T | CA371466005 | EYA1 | c.1609T>A (p.Cys537Ser) c.1507T>A (p.Cys503Ser) c.1504T>A (p.Cys502Ser) c.*888T>A (n.*888T>A) n.2072T>A c.*1286T>A (n.*1286T>A) c.1696T>A (p.Cys566Ser) c.1591T>A (p.Cys531Ser) n.679T>A c.1588T>A (p.Cys530Ser) c.1510T>A (p.Cys504Ser) c.1606T>A (p.Cys536Ser) n.2104T>A c.1243T>A (p.Cys415Ser) c.1681T>A (p.Cys561Ser) c.1594T>A (p.Cys532Ser) c.1546T>A (p.Cys516Ser) c.1258T>A (p.Cys420Ser) c.1693T>A (p.Cys565Ser) c.1678T>A (p.Cys560Ser) | |
8 | g.71211246G>A | CA461323718 | EYA1 | c.1608C>T (p.Ser536=) c.1506C>T (p.Ser502=) c.1503C>T (p.Ser501=) c.*887C>T (n.*887C>T) n.2071C>T c.*1285C>T (n.*1285C>T) c.1695C>T (p.Ser565=) c.1590C>T (p.Ser530=) n.678C>T c.1587C>T (p.Ser529=) c.1509C>T (p.Ser503=) c.1605C>T (p.Ser535=) n.2103C>T c.1242C>T (p.Ser414=) c.1680C>T (p.Ser560=) c.1593C>T (p.Ser531=) c.1545C>T (p.Ser515=) c.1257C>T (p.Ser419=) c.1692C>T (p.Ser564=) c.1677C>T (p.Ser559=) | |
8 | g.71211246G>C | CA371466006 | EYA1 | c.1608C>G (p.Ser536Arg) c.1506C>G (p.Ser502Arg) c.1503C>G (p.Ser501Arg) c.*887C>G (n.*887C>G) n.2071C>G c.*1285C>G (n.*1285C>G) c.1695C>G (p.Ser565Arg) c.1590C>G (p.Ser530Arg) n.678C>G c.1587C>G (p.Ser529Arg) c.1509C>G (p.Ser503Arg) c.1605C>G (p.Ser535Arg) n.2103C>G c.1242C>G (p.Ser414Arg) c.1680C>G (p.Ser560Arg) c.1593C>G (p.Ser531Arg) c.1545C>G (p.Ser515Arg) c.1257C>G (p.Ser419Arg) c.1692C>G (p.Ser564Arg) c.1677C>G (p.Ser559Arg) | |
8 | g.71211246G>T | CA371466007 | EYA1 | c.1608C>A (p.Ser536Arg) c.1506C>A (p.Ser502Arg) c.1503C>A (p.Ser501Arg) c.*887C>A (n.*887C>A) n.2071C>A c.*1285C>A (n.*1285C>A) c.1695C>A (p.Ser565Arg) c.1590C>A (p.Ser530Arg) n.678C>A c.1587C>A (p.Ser529Arg) c.1509C>A (p.Ser503Arg) c.1605C>A (p.Ser535Arg) n.2103C>A c.1242C>A (p.Ser414Arg) c.1680C>A (p.Ser560Arg) c.1593C>A (p.Ser531Arg) c.1545C>A (p.Ser515Arg) c.1257C>A (p.Ser419Arg) c.1692C>A (p.Ser564Arg) c.1677C>A (p.Ser559Arg) | |
8 | g.71211247C>A | CA371466008 | EYA1 | c.1607G>T (p.Ser536Ile) c.1505G>T (p.Ser502Ile) c.1502G>T (p.Ser501Ile) c.*886G>T (n.*886G>T) n.2070G>T c.*1284G>T (n.*1284G>T) c.1694G>T (p.Ser565Ile) c.1589G>T (p.Ser530Ile) n.677G>T c.1586G>T (p.Ser529Ile) c.1508G>T (p.Ser503Ile) c.1604G>T (p.Ser535Ile) n.2102G>T c.1241G>T (p.Ser414Ile) c.1679G>T (p.Ser560Ile) c.1592G>T (p.Ser531Ile) c.1544G>T (p.Ser515Ile) c.1256G>T (p.Ser419Ile) c.1691G>T (p.Ser564Ile) c.1676G>T (p.Ser559Ile) | |
8 | g.71211247C>G | CA371466009 | EYA1 | c.1607G>C (p.Ser536Thr) c.1505G>C (p.Ser502Thr) c.1502G>C (p.Ser501Thr) c.*886G>C (n.*886G>C) n.2070G>C c.*1284G>C (n.*1284G>C) c.1694G>C (p.Ser565Thr) c.1589G>C (p.Ser530Thr) n.677G>C c.1586G>C (p.Ser529Thr) c.1508G>C (p.Ser503Thr) c.1604G>C (p.Ser535Thr) n.2102G>C c.1241G>C (p.Ser414Thr) c.1679G>C (p.Ser560Thr) c.1592G>C (p.Ser531Thr) c.1544G>C (p.Ser515Thr) c.1256G>C (p.Ser419Thr) c.1691G>C (p.Ser564Thr) c.1676G>C (p.Ser559Thr) | |
8 | g.71211247C>T | CA371466010 | EYA1 | c.1607G>A (p.Ser536Asn) c.1505G>A (p.Ser502Asn) c.1502G>A (p.Ser501Asn) c.*886G>A (n.*886G>A) n.2070G>A c.*1284G>A (n.*1284G>A) c.1694G>A (p.Ser565Asn) c.1589G>A (p.Ser530Asn) n.677G>A c.1586G>A (p.Ser529Asn) c.1508G>A (p.Ser503Asn) c.1604G>A (p.Ser535Asn) n.2102G>A c.1241G>A (p.Ser414Asn) c.1679G>A (p.Ser560Asn) c.1592G>A (p.Ser531Asn) c.1544G>A (p.Ser515Asn) c.1256G>A (p.Ser419Asn) c.1691G>A (p.Ser564Asn) c.1676G>A (p.Ser559Asn) | |
8 | g.71211247_71211251del | CA2695209817 | EYA1 | c.1603_1607del (p.Glu535LeufsTer3) c.1501_1505del (p.Glu501LeufsTer3) c.1498_1502del (p.Glu500LeufsTer3) c.*882_*886del (n.*882_*886del) n.2066_2070del c.*1280_*1284del (n.*1280_*1284del) c.1690_1694del (p.Glu564LeufsTer3) c.1585_1589del (p.Glu529LeufsTer3) n.673_677del c.1582_1586del (p.Glu528LeufsTer3) c.1504_1508del (p.Glu502LeufsTer3) c.1600_1604del (p.Glu534LeufsTer3) n.2098_2102del c.1237_1241del (p.Glu413LeufsTer3) c.1675_1679del (p.Glu559LeufsTer3) c.1588_1592del (p.Glu530LeufsTer3) c.1540_1544del (p.Glu514LeufsTer3) c.1252_1256del (p.Glu418LeufsTer3) c.1687_1691del (p.Glu563LeufsTer3) c.1672_1676del (p.Glu558LeufsTer3) | |
8 | g.71211251_71211254del | CA2695209818 | EYA1 | c.1604_1607del (p.Glu535AlafsTer6) c.1502_1505del (p.Glu501AlafsTer6) c.1499_1502del (p.Glu500AlafsTer6) c.*883_*886del (n.*883_*886del) n.2067_2070del c.*1281_*1284del (n.*1281_*1284del) c.1691_1694del (p.Glu564AlafsTer6) c.1586_1589del (p.Glu529AlafsTer6) n.674_677del c.1583_1586del (p.Glu528AlafsTer6) c.1505_1508del (p.Glu502AlafsTer6) c.1601_1604del (p.Glu534AlafsTer6) n.2099_2102del c.1238_1241del (p.Glu413AlafsTer6) c.1676_1679del (p.Glu559AlafsTer6) c.1589_1592del (p.Glu530AlafsTer6) c.1541_1544del (p.Glu514AlafsTer6) c.1253_1256del (p.Glu418AlafsTer6) c.1688_1691del (p.Glu563AlafsTer6) c.1673_1676del (p.Glu558AlafsTer6) | |
8 | g.71211248T>A | CA371466011 | EYA1 | c.1606A>T (p.Ser536Cys) c.1504A>T (p.Ser502Cys) c.1501A>T (p.Ser501Cys) c.*885A>T (n.*885A>T) n.2069A>T c.*1283A>T (n.*1283A>T) c.1693A>T (p.Ser565Cys) c.1588A>T (p.Ser530Cys) n.676A>T c.1585A>T (p.Ser529Cys) c.1507A>T (p.Ser503Cys) c.1603A>T (p.Ser535Cys) n.2101A>T c.1240A>T (p.Ser414Cys) c.1678A>T (p.Ser560Cys) c.1591A>T (p.Ser531Cys) c.1543A>T (p.Ser515Cys) c.1255A>T (p.Ser419Cys) c.1690A>T (p.Ser564Cys) c.1675A>T (p.Ser559Cys) | gnomAD v4 |
8 | g.71211248T>C | CA371466012 | EYA1 | c.1606A>G (p.Ser536Gly) c.1504A>G (p.Ser502Gly) c.1501A>G (p.Ser501Gly) c.*885A>G (n.*885A>G) n.2069A>G c.*1283A>G (n.*1283A>G) c.1693A>G (p.Ser565Gly) c.1588A>G (p.Ser530Gly) n.676A>G c.1585A>G (p.Ser529Gly) c.1507A>G (p.Ser503Gly) c.1603A>G (p.Ser535Gly) n.2101A>G c.1240A>G (p.Ser414Gly) c.1678A>G (p.Ser560Gly) c.1591A>G (p.Ser531Gly) c.1543A>G (p.Ser515Gly) c.1255A>G (p.Ser419Gly) c.1690A>G (p.Ser564Gly) c.1675A>G (p.Ser559Gly) | gnomAD v4 |
8 | g.71211248T>G | CA371466013 | EYA1 | c.1606A>C (p.Ser536Arg) c.1504A>C (p.Ser502Arg) c.1501A>C (p.Ser501Arg) c.*885A>C (n.*885A>C) n.2069A>C c.*1283A>C (n.*1283A>C) c.1693A>C (p.Ser565Arg) c.1588A>C (p.Ser530Arg) n.676A>C c.1585A>C (p.Ser529Arg) c.1507A>C (p.Ser503Arg) c.1603A>C (p.Ser535Arg) n.2101A>C c.1240A>C (p.Ser414Arg) c.1678A>C (p.Ser560Arg) c.1591A>C (p.Ser531Arg) c.1543A>C (p.Ser515Arg) c.1255A>C (p.Ser419Arg) c.1690A>C (p.Ser564Arg) c.1675A>C (p.Ser559Arg) | |
8 | g.71211249T>A | CA371466014 | EYA1 | c.1605A>T (p.Glu535Asp) c.1503A>T (p.Glu501Asp) c.1500A>T (p.Glu500Asp) c.*884A>T (n.*884A>T) n.2068A>T c.*1282A>T (n.*1282A>T) c.1692A>T (p.Glu564Asp) c.1587A>T (p.Glu529Asp) n.675A>T c.1584A>T (p.Glu528Asp) c.1506A>T (p.Glu502Asp) c.1602A>T (p.Glu534Asp) n.2100A>T c.1239A>T (p.Glu413Asp) c.1677A>T (p.Glu559Asp) c.1590A>T (p.Glu530Asp) c.1542A>T (p.Glu514Asp) c.1254A>T (p.Glu418Asp) c.1689A>T (p.Glu563Asp) c.1674A>T (p.Glu558Asp) | COSMIC COSMIC |
8 | g.71211249T>C | CA461323719 | EYA1 | c.1605A>G (p.Glu535=) c.1503A>G (p.Glu501=) c.1500A>G (p.Glu500=) c.*884A>G (n.*884A>G) n.2068A>G c.*1282A>G (n.*1282A>G) c.1692A>G (p.Glu564=) c.1587A>G (p.Glu529=) n.675A>G c.1584A>G (p.Glu528=) c.1506A>G (p.Glu502=) c.1602A>G (p.Glu534=) n.2100A>G c.1239A>G (p.Glu413=) c.1677A>G (p.Glu559=) c.1590A>G (p.Glu530=) c.1542A>G (p.Glu514=) c.1254A>G (p.Glu418=) c.1689A>G (p.Glu563=) c.1674A>G (p.Glu558=) | |
8 | g.71211249T>G | CA371466015 | EYA1 | c.1605A>C (p.Glu535Asp) c.1503A>C (p.Glu501Asp) c.1500A>C (p.Glu500Asp) c.*884A>C (n.*884A>C) n.2068A>C c.*1282A>C (n.*1282A>C) c.1692A>C (p.Glu564Asp) c.1587A>C (p.Glu529Asp) n.675A>C c.1584A>C (p.Glu528Asp) c.1506A>C (p.Glu502Asp) c.1602A>C (p.Glu534Asp) n.2100A>C c.1239A>C (p.Glu413Asp) c.1677A>C (p.Glu559Asp) c.1590A>C (p.Glu530Asp) c.1542A>C (p.Glu514Asp) c.1254A>C (p.Glu418Asp) c.1689A>C (p.Glu563Asp) c.1674A>C (p.Glu558Asp) | |
8 | g.71211250T>A | CA371466017 | EYA1 | c.1604A>T (p.Glu535Val) c.1502A>T (p.Glu501Val) c.1499A>T (p.Glu500Val) c.*883A>T (n.*883A>T) n.2067A>T c.*1281A>T (n.*1281A>T) c.1691A>T (p.Glu564Val) c.1586A>T (p.Glu529Val) n.674A>T c.1583A>T (p.Glu528Val) c.1505A>T (p.Glu502Val) c.1601A>T (p.Glu534Val) n.2099A>T c.1238A>T (p.Glu413Val) c.1676A>T (p.Glu559Val) c.1589A>T (p.Glu530Val) c.1541A>T (p.Glu514Val) c.1253A>T (p.Glu418Val) c.1688A>T (p.Glu563Val) c.1673A>T (p.Glu558Val) | |
8 | g.71211250T>C | CA371466018 | EYA1 | c.1604A>G (p.Glu535Gly) c.1502A>G (p.Glu501Gly) c.1499A>G (p.Glu500Gly) c.*883A>G (n.*883A>G) n.2067A>G c.*1281A>G (n.*1281A>G) c.1691A>G (p.Glu564Gly) c.1586A>G (p.Glu529Gly) n.674A>G c.1583A>G (p.Glu528Gly) c.1505A>G (p.Glu502Gly) c.1601A>G (p.Glu534Gly) n.2099A>G c.1238A>G (p.Glu413Gly) c.1676A>G (p.Glu559Gly) c.1589A>G (p.Glu530Gly) c.1541A>G (p.Glu514Gly) c.1253A>G (p.Glu418Gly) c.1688A>G (p.Glu563Gly) c.1673A>G (p.Glu558Gly) | gnomAD v4 |
8 | g.71211250T>G | CA371466016 | EYA1 | c.1604A>C (p.Glu535Ala) c.1502A>C (p.Glu501Ala) c.1499A>C (p.Glu500Ala) c.*883A>C (n.*883A>C) n.2067A>C c.*1281A>C (n.*1281A>C) c.1691A>C (p.Glu564Ala) c.1586A>C (p.Glu529Ala) n.674A>C c.1583A>C (p.Glu528Ala) c.1505A>C (p.Glu502Ala) c.1601A>C (p.Glu534Ala) n.2099A>C c.1238A>C (p.Glu413Ala) c.1676A>C (p.Glu559Ala) c.1589A>C (p.Glu530Ala) c.1541A>C (p.Glu514Ala) c.1253A>C (p.Glu418Ala) c.1688A>C (p.Glu563Ala) c.1673A>C (p.Glu558Ala) | |
8 | g.71211251C>A | CA371466019 | EYA1 | c.1603G>T (p.Glu535Ter) c.1501G>T (p.Glu501Ter) c.1498G>T (p.Glu500Ter) c.*882G>T (n.*882G>T) n.2066G>T c.*1280G>T (n.*1280G>T) c.1690G>T (p.Glu564Ter) c.1585G>T (p.Glu529Ter) n.673G>T c.1582G>T (p.Glu528Ter) c.1504G>T (p.Glu502Ter) c.1600G>T (p.Glu534Ter) n.2098G>T c.1237G>T (p.Glu413Ter) c.1675G>T (p.Glu559Ter) c.1588G>T (p.Glu530Ter) c.1540G>T (p.Glu514Ter) c.1252G>T (p.Glu418Ter) c.1687G>T (p.Glu563Ter) c.1672G>T (p.Glu558Ter) | COSMIC COSMIC |
8 | g.71211251C= | CA1792681695 | EYA1 | c.1603G= (p.Glu535=) c.1501G= (p.Glu501=) c.1498G= (p.Glu500=) c.*882G= (n.*882G=) n.2066G= c.*1280G= (n.*1280G=) c.1690G= (p.Glu564=) c.1585G= (p.Glu529=) n.673G= c.1582G= (p.Glu528=) c.1504G= (p.Glu502=) c.1600G= (p.Glu534=) n.2098G= c.1237G= (p.Glu413=) c.1675G= (p.Glu559=) c.1588G= (p.Glu530=) c.1540G= (p.Glu514=) c.1252G= (p.Glu418=) c.1687G= (p.Glu563=) c.1672G= (p.Glu558=) | |
8 | g.71211251C>G | CA371466020 | EYA1 | c.1603G>C (p.Glu535Gln) c.1501G>C (p.Glu501Gln) c.1498G>C (p.Glu500Gln) c.*882G>C (n.*882G>C) n.2066G>C c.*1280G>C (n.*1280G>C) c.1690G>C (p.Glu564Gln) c.1585G>C (p.Glu529Gln) n.673G>C c.1582G>C (p.Glu528Gln) c.1504G>C (p.Glu502Gln) c.1600G>C (p.Glu534Gln) n.2098G>C c.1237G>C (p.Glu413Gln) c.1675G>C (p.Glu559Gln) c.1588G>C (p.Glu530Gln) c.1540G>C (p.Glu514Gln) c.1252G>C (p.Glu418Gln) c.1687G>C (p.Glu563Gln) c.1672G>C (p.Glu558Gln) | |
8 | g.71211251C>T | CA4779401 | EYA1 | c.1603G>A (p.Glu535Lys) c.1501G>A (p.Glu501Lys) c.1498G>A (p.Glu500Lys) c.*882G>A (n.*882G>A) n.2066G>A c.*1280G>A (n.*1280G>A) c.1690G>A (p.Glu564Lys) c.1585G>A (p.Glu529Lys) n.673G>A c.1582G>A (p.Glu528Lys) c.1504G>A (p.Glu502Lys) c.1600G>A (p.Glu534Lys) n.2098G>A c.1237G>A (p.Glu413Lys) c.1675G>A (p.Glu559Lys) c.1588G>A (p.Glu530Lys) c.1540G>A (p.Glu514Lys) c.1252G>A (p.Glu418Lys) c.1687G>A (p.Glu563Lys) c.1672G>A (p.Glu558Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211252T>A | CA371466021 | EYA1 | c.1602A>T (p.Lys534Asn) c.1500A>T (p.Lys500Asn) c.1497A>T (p.Lys499Asn) c.*881A>T (n.*881A>T) n.2065A>T c.*1279A>T (n.*1279A>T) c.1689A>T (p.Lys563Asn) c.1584A>T (p.Lys528Asn) n.672A>T c.1581A>T (p.Lys527Asn) c.1503A>T (p.Lys501Asn) c.1599A>T (p.Lys533Asn) n.2097A>T c.1236A>T (p.Lys412Asn) c.1674A>T (p.Lys558Asn) c.1587A>T (p.Lys529Asn) c.1539A>T (p.Lys513Asn) c.1251A>T (p.Lys417Asn) c.1686A>T (p.Lys562Asn) c.1671A>T (p.Lys557Asn) | |
8 | g.71211252T>C | CA461323721 | EYA1 | c.1602A>G (p.Lys534=) c.1500A>G (p.Lys500=) c.1497A>G (p.Lys499=) c.*881A>G (n.*881A>G) n.2065A>G c.*1279A>G (n.*1279A>G) c.1689A>G (p.Lys563=) c.1584A>G (p.Lys528=) n.672A>G c.1581A>G (p.Lys527=) c.1503A>G (p.Lys501=) c.1599A>G (p.Lys533=) n.2097A>G c.1236A>G (p.Lys412=) c.1674A>G (p.Lys558=) c.1587A>G (p.Lys529=) c.1539A>G (p.Lys513=) c.1251A>G (p.Lys417=) c.1686A>G (p.Lys562=) c.1671A>G (p.Lys557=) | dbSNP gnomAD v2 gnomAD v4 |
8 | g.71211252T>G | CA371466022 | EYA1 | c.1602A>C (p.Lys534Asn) c.1500A>C (p.Lys500Asn) c.1497A>C (p.Lys499Asn) c.*881A>C (n.*881A>C) n.2065A>C c.*1279A>C (n.*1279A>C) c.1689A>C (p.Lys563Asn) c.1584A>C (p.Lys528Asn) n.672A>C c.1581A>C (p.Lys527Asn) c.1503A>C (p.Lys501Asn) c.1599A>C (p.Lys533Asn) n.2097A>C c.1236A>C (p.Lys412Asn) c.1674A>C (p.Lys558Asn) c.1587A>C (p.Lys529Asn) c.1539A>C (p.Lys513Asn) c.1251A>C (p.Lys417Asn) c.1686A>C (p.Lys562Asn) c.1671A>C (p.Lys557Asn) | COSMIC COSMIC |
8 | g.71211252T= | CA1792681701 | EYA1 | c.1602A= (p.Lys534=) c.1500A= (p.Lys500=) c.1497A= (p.Lys499=) c.*881A= (n.*881A=) n.2065A= c.*1279A= (n.*1279A=) c.1689A= (p.Lys563=) c.1584A= (p.Lys528=) n.672A= c.1581A= (p.Lys527=) c.1503A= (p.Lys501=) c.1599A= (p.Lys533=) n.2097A= c.1236A= (p.Lys412=) c.1674A= (p.Lys558=) c.1587A= (p.Lys529=) c.1539A= (p.Lys513=) c.1251A= (p.Lys417=) c.1686A= (p.Lys562=) c.1671A= (p.Lys557=) | |
8 | g.71211253T>A | CA371466023 | EYA1 | c.1601A>T (p.Lys534Ile) c.1499A>T (p.Lys500Ile) c.1496A>T (p.Lys499Ile) c.*880A>T (n.*880A>T) n.2064A>T c.*1278A>T (n.*1278A>T) c.1688A>T (p.Lys563Ile) c.1583A>T (p.Lys528Ile) n.671A>T c.1580A>T (p.Lys527Ile) c.1502A>T (p.Lys501Ile) c.1598A>T (p.Lys533Ile) n.2096A>T c.1235A>T (p.Lys412Ile) c.1673A>T (p.Lys558Ile) c.1586A>T (p.Lys529Ile) c.1538A>T (p.Lys513Ile) c.1250A>T (p.Lys417Ile) c.1685A>T (p.Lys562Ile) c.1670A>T (p.Lys557Ile) | |
8 | g.71211253T>C | CA371466024 | EYA1 | c.1601A>G (p.Lys534Arg) c.1499A>G (p.Lys500Arg) c.1496A>G (p.Lys499Arg) c.*880A>G (n.*880A>G) n.2064A>G c.*1278A>G (n.*1278A>G) c.1688A>G (p.Lys563Arg) c.1583A>G (p.Lys528Arg) n.671A>G c.1580A>G (p.Lys527Arg) c.1502A>G (p.Lys501Arg) c.1598A>G (p.Lys533Arg) n.2096A>G c.1235A>G (p.Lys412Arg) c.1673A>G (p.Lys558Arg) c.1586A>G (p.Lys529Arg) c.1538A>G (p.Lys513Arg) c.1250A>G (p.Lys417Arg) c.1685A>G (p.Lys562Arg) c.1670A>G (p.Lys557Arg) | gnomAD v4 |
8 | g.71211253T>G | CA371466025 | EYA1 | c.1601A>C (p.Lys534Thr) c.1499A>C (p.Lys500Thr) c.1496A>C (p.Lys499Thr) c.*880A>C (n.*880A>C) n.2064A>C c.*1278A>C (n.*1278A>C) c.1688A>C (p.Lys563Thr) c.1583A>C (p.Lys528Thr) n.671A>C c.1580A>C (p.Lys527Thr) c.1502A>C (p.Lys501Thr) c.1598A>C (p.Lys533Thr) n.2096A>C c.1235A>C (p.Lys412Thr) c.1673A>C (p.Lys558Thr) c.1586A>C (p.Lys529Thr) c.1538A>C (p.Lys513Thr) c.1250A>C (p.Lys417Thr) c.1685A>C (p.Lys562Thr) c.1670A>C (p.Lys557Thr) | |
8 | g.71211254T>A | CA371466026 | EYA1 | c.1600A>T (p.Lys534Ter) c.1498A>T (p.Lys500Ter) c.1495A>T (p.Lys499Ter) c.*879A>T (n.*879A>T) n.2063A>T c.*1277A>T (n.*1277A>T) c.1687A>T (p.Lys563Ter) c.1582A>T (p.Lys528Ter) n.670A>T c.1579A>T (p.Lys527Ter) c.1501A>T (p.Lys501Ter) c.1597A>T (p.Lys533Ter) n.2095A>T c.1234A>T (p.Lys412Ter) c.1672A>T (p.Lys558Ter) c.1585A>T (p.Lys529Ter) c.1537A>T (p.Lys513Ter) c.1249A>T (p.Lys417Ter) c.1684A>T (p.Lys562Ter) c.1669A>T (p.Lys557Ter) | |
8 | g.71211254T>C | CA371466027 | EYA1 | c.1600A>G (p.Lys534Glu) c.1498A>G (p.Lys500Glu) c.1495A>G (p.Lys499Glu) c.*879A>G (n.*879A>G) n.2063A>G c.*1277A>G (n.*1277A>G) c.1687A>G (p.Lys563Glu) c.1582A>G (p.Lys528Glu) n.670A>G c.1579A>G (p.Lys527Glu) c.1501A>G (p.Lys501Glu) c.1597A>G (p.Lys533Glu) n.2095A>G c.1234A>G (p.Lys412Glu) c.1672A>G (p.Lys558Glu) c.1585A>G (p.Lys529Glu) c.1537A>G (p.Lys513Glu) c.1249A>G (p.Lys417Glu) c.1684A>G (p.Lys562Glu) c.1669A>G (p.Lys557Glu) | gnomAD v4 |
8 | g.71211254T>G | CA371466028 | EYA1 | c.1600A>C (p.Lys534Gln) c.1498A>C (p.Lys500Gln) c.1495A>C (p.Lys499Gln) c.*879A>C (n.*879A>C) n.2063A>C c.*1277A>C (n.*1277A>C) c.1687A>C (p.Lys563Gln) c.1582A>C (p.Lys528Gln) n.670A>C c.1579A>C (p.Lys527Gln) c.1501A>C (p.Lys501Gln) c.1597A>C (p.Lys533Gln) n.2095A>C c.1234A>C (p.Lys412Gln) c.1672A>C (p.Lys558Gln) c.1585A>C (p.Lys529Gln) c.1537A>C (p.Lys513Gln) c.1249A>C (p.Lys417Gln) c.1684A>C (p.Lys562Gln) c.1669A>C (p.Lys557Gln) | |
8 | g.71211255T>A | CA461323723 | EYA1 | c.1599A>T (p.Gly533=) c.1497A>T (p.Gly499=) c.1494A>T (p.Gly498=) c.*878A>T (n.*878A>T) n.2062A>T c.*1276A>T (n.*1276A>T) c.1686A>T (p.Gly562=) c.1581A>T (p.Gly527=) n.669A>T c.1578A>T (p.Gly526=) c.1500A>T (p.Gly500=) c.1596A>T (p.Gly532=) n.2094A>T c.1233A>T (p.Gly411=) c.1671A>T (p.Gly557=) c.1584A>T (p.Gly528=) c.1536A>T (p.Gly512=) c.1248A>T (p.Gly416=) c.1683A>T (p.Gly561=) c.1668A>T (p.Gly556=) | |
8 | g.71211255T>C | CA461323722 | EYA1 | c.1599A>G (p.Gly533=) c.1497A>G (p.Gly499=) c.1494A>G (p.Gly498=) c.*878A>G (n.*878A>G) n.2062A>G c.*1276A>G (n.*1276A>G) c.1686A>G (p.Gly562=) c.1581A>G (p.Gly527=) n.669A>G c.1578A>G (p.Gly526=) c.1500A>G (p.Gly500=) c.1596A>G (p.Gly532=) n.2094A>G c.1233A>G (p.Gly411=) c.1671A>G (p.Gly557=) c.1584A>G (p.Gly528=) c.1536A>G (p.Gly512=) c.1248A>G (p.Gly416=) c.1683A>G (p.Gly561=) c.1668A>G (p.Gly556=) | dbSNP gnomAD v4 |
8 | g.71211255T>G | CA461323724 | EYA1 | c.1599A>C (p.Gly533=) c.1497A>C (p.Gly499=) c.1494A>C (p.Gly498=) c.*878A>C (n.*878A>C) n.2062A>C c.*1276A>C (n.*1276A>C) c.1686A>C (p.Gly562=) c.1581A>C (p.Gly527=) n.669A>C c.1578A>C (p.Gly526=) c.1500A>C (p.Gly500=) c.1596A>C (p.Gly532=) n.2094A>C c.1233A>C (p.Gly411=) c.1671A>C (p.Gly557=) c.1584A>C (p.Gly528=) c.1536A>C (p.Gly512=) c.1248A>C (p.Gly416=) c.1683A>C (p.Gly561=) c.1668A>C (p.Gly556=) | |
8 | g.71211255T= | CA1792681703 | EYA1 | c.1599A= (p.Gly533=) c.1497A= (p.Gly499=) c.1494A= (p.Gly498=) c.*878A= (n.*878A=) n.2062A= c.*1276A= (n.*1276A=) c.1686A= (p.Gly562=) c.1581A= (p.Gly527=) n.669A= c.1578A= (p.Gly526=) c.1500A= (p.Gly500=) c.1596A= (p.Gly532=) n.2094A= c.1233A= (p.Gly411=) c.1671A= (p.Gly557=) c.1584A= (p.Gly528=) c.1536A= (p.Gly512=) c.1248A= (p.Gly416=) c.1683A= (p.Gly561=) c.1668A= (p.Gly556=) | |
8 | g.71211256C>A | CA371466031 | EYA1 | c.1598G>T (p.Gly533Val) c.1496G>T (p.Gly499Val) c.1493G>T (p.Gly498Val) c.*877G>T (n.*877G>T) n.2061G>T c.*1275G>T (n.*1275G>T) c.1685G>T (p.Gly562Val) c.1580G>T (p.Gly527Val) n.668G>T c.1577G>T (p.Gly526Val) c.1499G>T (p.Gly500Val) c.1595G>T (p.Gly532Val) n.2093G>T c.1232G>T (p.Gly411Val) c.1670G>T (p.Gly557Val) c.1583G>T (p.Gly528Val) c.1535G>T (p.Gly512Val) c.1247G>T (p.Gly416Val) c.1682G>T (p.Gly561Val) c.1667G>T (p.Gly556Val) | |
8 | g.71211256C>G | CA371466030 | EYA1 | c.1598G>C (p.Gly533Ala) c.1496G>C (p.Gly499Ala) c.1493G>C (p.Gly498Ala) c.*877G>C (n.*877G>C) n.2061G>C c.*1275G>C (n.*1275G>C) c.1685G>C (p.Gly562Ala) c.1580G>C (p.Gly527Ala) n.668G>C c.1577G>C (p.Gly526Ala) c.1499G>C (p.Gly500Ala) c.1595G>C (p.Gly532Ala) n.2093G>C c.1232G>C (p.Gly411Ala) c.1670G>C (p.Gly557Ala) c.1583G>C (p.Gly528Ala) c.1535G>C (p.Gly512Ala) c.1247G>C (p.Gly416Ala) c.1682G>C (p.Gly561Ala) c.1667G>C (p.Gly556Ala) | |
8 | g.71211256C>T | CA371466029 | EYA1 | c.1598G>A (p.Gly533Glu) c.1496G>A (p.Gly499Glu) c.1493G>A (p.Gly498Glu) c.*877G>A (n.*877G>A) n.2061G>A c.*1275G>A (n.*1275G>A) c.1685G>A (p.Gly562Glu) c.1580G>A (p.Gly527Glu) n.668G>A c.1577G>A (p.Gly526Glu) c.1499G>A (p.Gly500Glu) c.1595G>A (p.Gly532Glu) n.2093G>A c.1232G>A (p.Gly411Glu) c.1670G>A (p.Gly557Glu) c.1583G>A (p.Gly528Glu) c.1535G>A (p.Gly512Glu) c.1247G>A (p.Gly416Glu) c.1682G>A (p.Gly561Glu) c.1667G>A (p.Gly556Glu) | |
8 | g.71211257C>A | CA371466032 | EYA1 | c.1598-1G>T (n.1598-1G>T) c.1496-1G>T (n.1496-1G>T) c.1493-1G>T (n.1493-1G>T) c.*877-1G>T (n.*877-1G>T) n.2061-1G>T c.*1275-1G>T (n.*1275-1G>T) c.1685-1G>T (n.1685-1G>T) c.1580-1G>T (n.1580-1G>T) n.668-1G>T c.1577-1G>T (n.1577-1G>T) c.1499-1G>T (n.1499-1G>T) c.1595-1G>T (n.1595-1G>T) n.2093-1G>T c.1232-1G>T (n.1232-1G>T) c.1670-1G>T (n.1670-1G>T) c.1583-1G>T (n.1583-1G>T) c.1535-1G>T (n.1535-1G>T) c.1247-1G>T (n.1247-1G>T) c.1682-1G>T (n.1682-1G>T) c.1667-1G>T (n.1667-1G>T) | gnomAD v4 |
8 | g.71211257C>G | CA371466033 | EYA1 | c.1598-1G>C (n.1598-1G>C) c.1496-1G>C (n.1496-1G>C) c.1493-1G>C (n.1493-1G>C) c.*877-1G>C (n.*877-1G>C) n.2061-1G>C c.*1275-1G>C (n.*1275-1G>C) c.1685-1G>C (n.1685-1G>C) c.1580-1G>C (n.1580-1G>C) n.668-1G>C c.1577-1G>C (n.1577-1G>C) c.1499-1G>C (n.1499-1G>C) c.1595-1G>C (n.1595-1G>C) n.2093-1G>C c.1232-1G>C (n.1232-1G>C) c.1670-1G>C (n.1670-1G>C) c.1583-1G>C (n.1583-1G>C) c.1535-1G>C (n.1535-1G>C) c.1247-1G>C (n.1247-1G>C) c.1682-1G>C (n.1682-1G>C) c.1667-1G>C (n.1667-1G>C) | ClinVar |
8 | g.71211257C>T | CA371466034 | EYA1 | c.1598-1G>A (n.1598-1G>A) c.1496-1G>A (n.1496-1G>A) c.1493-1G>A (n.1493-1G>A) c.*877-1G>A (n.*877-1G>A) n.2061-1G>A c.*1275-1G>A (n.*1275-1G>A) c.1685-1G>A (n.1685-1G>A) c.1580-1G>A (n.1580-1G>A) n.668-1G>A c.1577-1G>A (n.1577-1G>A) c.1499-1G>A (n.1499-1G>A) c.1595-1G>A (n.1595-1G>A) n.2093-1G>A c.1232-1G>A (n.1232-1G>A) c.1670-1G>A (n.1670-1G>A) c.1583-1G>A (n.1583-1G>A) c.1535-1G>A (n.1535-1G>A) c.1247-1G>A (n.1247-1G>A) c.1682-1G>A (n.1682-1G>A) c.1667-1G>A (n.1667-1G>A) | |
8 | g.71211258del | CA2580610804 | EYA1 | c.1598-2del (n.1598-2del) c.1496-2del (n.1496-2del) c.1493-2del (n.1493-2del) c.*877-2del (n.*877-2del) n.2061-2del c.*1275-2del (n.*1275-2del) c.1685-2del (n.1685-2del) c.1580-2del (n.1580-2del) n.668-2del c.1577-2del (n.1577-2del) c.1499-2del (n.1499-2del) c.1595-2del (n.1595-2del) n.2093-2del c.1232-2del (n.1232-2del) c.1670-2del (n.1670-2del) c.1583-2del (n.1583-2del) c.1535-2del (n.1535-2del) c.1247-2del (n.1247-2del) c.1682-2del (n.1682-2del) c.1667-2del (n.1667-2del) | ClinVar |
8 | g.71211258T>A | CA371466035 | EYA1 | c.1598-2A>T (n.1598-2A>T) c.1496-2A>T (n.1496-2A>T) c.1493-2A>T (n.1493-2A>T) c.*877-2A>T (n.*877-2A>T) n.2061-2A>T c.*1275-2A>T (n.*1275-2A>T) c.1685-2A>T (n.1685-2A>T) c.1580-2A>T (n.1580-2A>T) n.668-2A>T c.1577-2A>T (n.1577-2A>T) c.1499-2A>T (n.1499-2A>T) c.1595-2A>T (n.1595-2A>T) n.2093-2A>T c.1232-2A>T (n.1232-2A>T) c.1670-2A>T (n.1670-2A>T) c.1583-2A>T (n.1583-2A>T) c.1535-2A>T (n.1535-2A>T) c.1247-2A>T (n.1247-2A>T) c.1682-2A>T (n.1682-2A>T) c.1667-2A>T (n.1667-2A>T) | |
8 | g.71211258T>C | CA371466036 | EYA1 | c.1598-2A>G (n.1598-2A>G) c.1496-2A>G (n.1496-2A>G) c.1493-2A>G (n.1493-2A>G) c.*877-2A>G (n.*877-2A>G) n.2061-2A>G c.*1275-2A>G (n.*1275-2A>G) c.1685-2A>G (n.1685-2A>G) c.1580-2A>G (n.1580-2A>G) n.668-2A>G c.1577-2A>G (n.1577-2A>G) c.1499-2A>G (n.1499-2A>G) c.1595-2A>G (n.1595-2A>G) n.2093-2A>G c.1232-2A>G (n.1232-2A>G) c.1670-2A>G (n.1670-2A>G) c.1583-2A>G (n.1583-2A>G) c.1535-2A>G (n.1535-2A>G) c.1247-2A>G (n.1247-2A>G) c.1682-2A>G (n.1682-2A>G) c.1667-2A>G (n.1667-2A>G) | ClinVar dbSNP |
8 | g.71211258T>G | CA371466037 | EYA1 | c.1598-2A>C (n.1598-2A>C) c.1496-2A>C (n.1496-2A>C) c.1493-2A>C (n.1493-2A>C) c.*877-2A>C (n.*877-2A>C) n.2061-2A>C c.*1275-2A>C (n.*1275-2A>C) c.1685-2A>C (n.1685-2A>C) c.1580-2A>C (n.1580-2A>C) n.668-2A>C c.1577-2A>C (n.1577-2A>C) c.1499-2A>C (n.1499-2A>C) c.1595-2A>C (n.1595-2A>C) n.2093-2A>C c.1232-2A>C (n.1232-2A>C) c.1670-2A>C (n.1670-2A>C) c.1583-2A>C (n.1583-2A>C) c.1535-2A>C (n.1535-2A>C) c.1247-2A>C (n.1247-2A>C) c.1682-2A>C (n.1682-2A>C) c.1667-2A>C (n.1667-2A>C) | |
8 | g.71211258T= | CA1792681706 | EYA1 | c.1598-2A= (n.1598-2A=) c.1496-2A= (n.1496-2A=) c.1493-2A= (n.1493-2A=) c.*877-2A= (n.*877-2A=) n.2061-2A= c.*1275-2A= (n.*1275-2A=) c.1685-2A= (n.1685-2A=) c.1580-2A= (n.1580-2A=) n.668-2A= c.1577-2A= (n.1577-2A=) c.1499-2A= (n.1499-2A=) c.1595-2A= (n.1595-2A=) n.2093-2A= c.1232-2A= (n.1232-2A=) c.1670-2A= (n.1670-2A=) c.1583-2A= (n.1583-2A=) c.1535-2A= (n.1535-2A=) c.1247-2A= (n.1247-2A=) c.1682-2A= (n.1682-2A=) c.1667-2A= (n.1667-2A=) | |
8 | g.71211259A>G | CA2687599359 | EYA1 | c.1598-3T>C (n.1598-3T>C) c.1496-3T>C (n.1496-3T>C) c.1493-3T>C (n.1493-3T>C) c.*877-3T>C (n.*877-3T>C) n.2061-3T>C c.*1275-3T>C (n.*1275-3T>C) c.1685-3T>C (n.1685-3T>C) c.1580-3T>C (n.1580-3T>C) n.668-3T>C c.1577-3T>C (n.1577-3T>C) c.1499-3T>C (n.1499-3T>C) c.1595-3T>C (n.1595-3T>C) n.2093-3T>C c.1232-3T>C (n.1232-3T>C) c.1670-3T>C (n.1670-3T>C) c.1583-3T>C (n.1583-3T>C) c.1535-3T>C (n.1535-3T>C) c.1247-3T>C (n.1247-3T>C) c.1682-3T>C (n.1682-3T>C) c.1667-3T>C (n.1667-3T>C) | gnomAD v4 |
8 | g.71211260G>T | CA2687599360 | EYA1 | c.1598-4C>A (n.1598-4C>A) c.1496-4C>A (n.1496-4C>A) c.1493-4C>A (n.1493-4C>A) c.*877-4C>A (n.*877-4C>A) n.2061-4C>A c.*1275-4C>A (n.*1275-4C>A) c.1685-4C>A (n.1685-4C>A) c.1580-4C>A (n.1580-4C>A) n.668-4C>A c.1577-4C>A (n.1577-4C>A) c.1499-4C>A (n.1499-4C>A) c.1595-4C>A (n.1595-4C>A) n.2093-4C>A c.1232-4C>A (n.1232-4C>A) c.1670-4C>A (n.1670-4C>A) c.1583-4C>A (n.1583-4C>A) c.1535-4C>A (n.1535-4C>A) c.1247-4C>A (n.1247-4C>A) c.1682-4C>A (n.1682-4C>A) c.1667-4C>A (n.1667-4C>A) | gnomAD v4 |
8 | g.71211261T>C | CA2687599361 | EYA1 | c.1598-5A>G (n.1598-5A>G) c.1496-5A>G (n.1496-5A>G) c.1493-5A>G (n.1493-5A>G) c.*877-5A>G (n.*877-5A>G) n.2061-5A>G c.*1275-5A>G (n.*1275-5A>G) c.1685-5A>G (n.1685-5A>G) c.1580-5A>G (n.1580-5A>G) n.668-5A>G c.1577-5A>G (n.1577-5A>G) c.1499-5A>G (n.1499-5A>G) c.1595-5A>G (n.1595-5A>G) n.2093-5A>G c.1232-5A>G (n.1232-5A>G) c.1670-5A>G (n.1670-5A>G) c.1583-5A>G (n.1583-5A>G) c.1535-5A>G (n.1535-5A>G) c.1247-5A>G (n.1247-5A>G) c.1682-5A>G (n.1682-5A>G) c.1667-5A>G (n.1667-5A>G) | gnomAD v4 |
8 | g.71211262G>A | CA2687599362 | EYA1 | c.1598-6C>T (n.1598-6C>T) c.1496-6C>T (n.1496-6C>T) c.1493-6C>T (n.1493-6C>T) c.*877-6C>T (n.*877-6C>T) n.2061-6C>T c.*1275-6C>T (n.*1275-6C>T) c.1685-6C>T (n.1685-6C>T) c.1580-6C>T (n.1580-6C>T) n.668-6C>T c.1577-6C>T (n.1577-6C>T) c.1499-6C>T (n.1499-6C>T) c.1595-6C>T (n.1595-6C>T) n.2093-6C>T c.1232-6C>T (n.1232-6C>T) c.1670-6C>T (n.1670-6C>T) c.1583-6C>T (n.1583-6C>T) c.1535-6C>T (n.1535-6C>T) c.1247-6C>T (n.1247-6C>T) c.1682-6C>T (n.1682-6C>T) c.1667-6C>T (n.1667-6C>T) | gnomAD v4 |
8 | g.71211262G>C | CA2687599364 | EYA1 | c.1598-6C>G (n.1598-6C>G) c.1496-6C>G (n.1496-6C>G) c.1493-6C>G (n.1493-6C>G) c.*877-6C>G (n.*877-6C>G) n.2061-6C>G c.*1275-6C>G (n.*1275-6C>G) c.1685-6C>G (n.1685-6C>G) c.1580-6C>G (n.1580-6C>G) n.668-6C>G c.1577-6C>G (n.1577-6C>G) c.1499-6C>G (n.1499-6C>G) c.1595-6C>G (n.1595-6C>G) n.2093-6C>G c.1232-6C>G (n.1232-6C>G) c.1670-6C>G (n.1670-6C>G) c.1583-6C>G (n.1583-6C>G) c.1535-6C>G (n.1535-6C>G) c.1247-6C>G (n.1247-6C>G) c.1682-6C>G (n.1682-6C>G) c.1667-6C>G (n.1667-6C>G) | gnomAD v4 |
8 | g.71211262G>T | CA2687599363 | EYA1 | c.1598-6C>A (n.1598-6C>A) c.1496-6C>A (n.1496-6C>A) c.1493-6C>A (n.1493-6C>A) c.*877-6C>A (n.*877-6C>A) n.2061-6C>A c.*1275-6C>A (n.*1275-6C>A) c.1685-6C>A (n.1685-6C>A) c.1580-6C>A (n.1580-6C>A) n.668-6C>A c.1577-6C>A (n.1577-6C>A) c.1499-6C>A (n.1499-6C>A) c.1595-6C>A (n.1595-6C>A) n.2093-6C>A c.1232-6C>A (n.1232-6C>A) c.1670-6C>A (n.1670-6C>A) c.1583-6C>A (n.1583-6C>A) c.1535-6C>A (n.1535-6C>A) c.1247-6C>A (n.1247-6C>A) c.1682-6C>A (n.1682-6C>A) c.1667-6C>A (n.1667-6C>A) | gnomAD v4 |
8 | g.71211263A>C | CA2687599365 | EYA1 | c.1598-7T>G (n.1598-7T>G) c.1496-7T>G (n.1496-7T>G) c.1493-7T>G (n.1493-7T>G) c.*877-7T>G (n.*877-7T>G) n.2061-7T>G c.*1275-7T>G (n.*1275-7T>G) c.1685-7T>G (n.1685-7T>G) c.1580-7T>G (n.1580-7T>G) n.668-7T>G c.1577-7T>G (n.1577-7T>G) c.1499-7T>G (n.1499-7T>G) c.1595-7T>G (n.1595-7T>G) n.2093-7T>G c.1232-7T>G (n.1232-7T>G) c.1670-7T>G (n.1670-7T>G) c.1583-7T>G (n.1583-7T>G) c.1535-7T>G (n.1535-7T>G) c.1247-7T>G (n.1247-7T>G) c.1682-7T>G (n.1682-7T>G) c.1667-7T>G (n.1667-7T>G) | gnomAD v4 |
8 | g.71211263A>T | CA2780775391 | EYA1 | c.1598-7T>A (n.1598-7T>A) c.1496-7T>A (n.1496-7T>A) c.1493-7T>A (n.1493-7T>A) c.*877-7T>A (n.*877-7T>A) n.2061-7T>A c.*1275-7T>A (n.*1275-7T>A) c.1685-7T>A (n.1685-7T>A) c.1580-7T>A (n.1580-7T>A) n.668-7T>A c.1577-7T>A (n.1577-7T>A) c.1499-7T>A (n.1499-7T>A) c.1595-7T>A (n.1595-7T>A) n.2093-7T>A c.1232-7T>A (n.1232-7T>A) c.1670-7T>A (n.1670-7T>A) c.1583-7T>A (n.1583-7T>A) c.1535-7T>A (n.1535-7T>A) c.1247-7T>A (n.1247-7T>A) c.1682-7T>A (n.1682-7T>A) c.1667-7T>A (n.1667-7T>A) | |
8 | g.71211264A>G | CA2687599366 | EYA1 | c.1598-8T>C (n.1598-8T>C) c.1496-8T>C (n.1496-8T>C) c.1493-8T>C (n.1493-8T>C) c.*877-8T>C (n.*877-8T>C) n.2061-8T>C c.*1275-8T>C (n.*1275-8T>C) c.1685-8T>C (n.1685-8T>C) c.1580-8T>C (n.1580-8T>C) n.668-8T>C c.1577-8T>C (n.1577-8T>C) c.1499-8T>C (n.1499-8T>C) c.1595-8T>C (n.1595-8T>C) n.2093-8T>C c.1232-8T>C (n.1232-8T>C) c.1670-8T>C (n.1670-8T>C) c.1583-8T>C (n.1583-8T>C) c.1535-8T>C (n.1535-8T>C) c.1247-8T>C (n.1247-8T>C) c.1682-8T>C (n.1682-8T>C) c.1667-8T>C (n.1667-8T>C) | gnomAD v4 |
8 | g.71211265_71211289del | CA2580078919 | EYA1 | c.1598-32_1598-8del (n.1598-32_1598-8del) c.1496-32_1496-8del (n.1496-32_1496-8del) c.1493-32_1493-8del (n.1493-32_1493-8del) c.*877-32_*877-8del (n.*877-32_*877-8del) n.2061-32_2061-8del c.*1275-32_*1275-8del (n.*1275-32_*1275-8del) c.1685-32_1685-8del (n.1685-32_1685-8del) c.1580-32_1580-8del (n.1580-32_1580-8del) n.668-32_668-8del c.1577-32_1577-8del (n.1577-32_1577-8del) c.1499-32_1499-8del (n.1499-32_1499-8del) c.1595-32_1595-8del (n.1595-32_1595-8del) n.2093-32_2093-8del c.1232-32_1232-8del (n.1232-32_1232-8del) c.1670-32_1670-8del (n.1670-32_1670-8del) c.1583-32_1583-8del (n.1583-32_1583-8del) c.1535-32_1535-8del (n.1535-32_1535-8del) c.1247-32_1247-8del (n.1247-32_1247-8del) c.1682-32_1682-8del (n.1682-32_1682-8del) c.1667-32_1667-8del (n.1667-32_1667-8del) | ClinVar |
8 | g.71211265del | CA2717487119 | EYA1 | c.1598-9del (n.1598-9del) c.1496-9del (n.1496-9del) c.1493-9del (n.1493-9del) c.*877-9del (n.*877-9del) n.2061-9del c.*1275-9del (n.*1275-9del) c.1685-9del (n.1685-9del) c.1580-9del (n.1580-9del) n.668-9del c.1577-9del (n.1577-9del) c.1499-9del (n.1499-9del) c.1595-9del (n.1595-9del) n.2093-9del c.1232-9del (n.1232-9del) c.1670-9del (n.1670-9del) c.1583-9del (n.1583-9del) c.1535-9del (n.1535-9del) c.1247-9del (n.1247-9del) c.1682-9del (n.1682-9del) c.1667-9del (n.1667-9del) | dbSNP |
8 | g.71211265C= | CA1792681711 | EYA1 | c.1598-9G= (n.1598-9G=) c.1496-9G= (n.1496-9G=) c.1493-9G= (n.1493-9G=) c.*877-9G= (n.*877-9G=) n.2061-9G= c.*1275-9G= (n.*1275-9G=) c.1685-9G= (n.1685-9G=) c.1580-9G= (n.1580-9G=) n.668-9G= c.1577-9G= (n.1577-9G=) c.1499-9G= (n.1499-9G=) c.1595-9G= (n.1595-9G=) n.2093-9G= c.1232-9G= (n.1232-9G=) c.1670-9G= (n.1670-9G=) c.1583-9G= (n.1583-9G=) c.1535-9G= (n.1535-9G=) c.1247-9G= (n.1247-9G=) c.1682-9G= (n.1682-9G=) c.1667-9G= (n.1667-9G=) | |
8 | g.71211265C>T | CA1792681710 | EYA1 | c.1598-9G>A (n.1598-9G>A) c.1496-9G>A (n.1496-9G>A) c.1493-9G>A (n.1493-9G>A) c.*877-9G>A (n.*877-9G>A) n.2061-9G>A c.*1275-9G>A (n.*1275-9G>A) c.1685-9G>A (n.1685-9G>A) c.1580-9G>A (n.1580-9G>A) n.668-9G>A c.1577-9G>A (n.1577-9G>A) c.1499-9G>A (n.1499-9G>A) c.1595-9G>A (n.1595-9G>A) n.2093-9G>A c.1232-9G>A (n.1232-9G>A) c.1670-9G>A (n.1670-9G>A) c.1583-9G>A (n.1583-9G>A) c.1535-9G>A (n.1535-9G>A) c.1247-9G>A (n.1247-9G>A) c.1682-9G>A (n.1682-9G>A) c.1667-9G>A (n.1667-9G>A) | dbSNP gnomAD v4 |
8 | g.71211265_71211267delinsCAA | CA1792681709 | EYA1 | c.1598-11_1598-9delinsTTG (n.1598-11_1598-9delinsTTG) c.1496-11_1496-9delinsTTG (n.1496-11_1496-9delinsTTG) c.1493-11_1493-9delinsTTG (n.1493-11_1493-9delinsTTG) c.*877-11_*877-9delinsTTG (n.*877-11_*877-9delinsTTG) n.2061-11_2061-9delinsTTG c.*1275-11_*1275-9delinsTTG (n.*1275-11_*1275-9delinsTTG) c.1685-11_1685-9delinsTTG (n.1685-11_1685-9delinsTTG) c.1580-11_1580-9delinsTTG (n.1580-11_1580-9delinsTTG) n.668-11_668-9delinsTTG c.1577-11_1577-9delinsTTG (n.1577-11_1577-9delinsTTG) c.1499-11_1499-9delinsTTG (n.1499-11_1499-9delinsTTG) c.1595-11_1595-9delinsTTG (n.1595-11_1595-9delinsTTG) n.2093-11_2093-9delinsTTG c.1232-11_1232-9delinsTTG (n.1232-11_1232-9delinsTTG) c.1670-11_1670-9delinsTTG (n.1670-11_1670-9delinsTTG) c.1583-11_1583-9delinsTTG (n.1583-11_1583-9delinsTTG) c.1535-11_1535-9delinsTTG (n.1535-11_1535-9delinsTTG) c.1247-11_1247-9delinsTTG (n.1247-11_1247-9delinsTTG) c.1682-11_1682-9delinsTTG (n.1682-11_1682-9delinsTTG) c.1667-11_1667-9delinsTTG (n.1667-11_1667-9delinsTTG) | |
8 | g.71211270del | CA2687599367 | EYA1 | c.1598-10del (n.1598-10del) c.1496-10del (n.1496-10del) c.1493-10del (n.1493-10del) c.*877-10del (n.*877-10del) n.2061-10del c.*1275-10del (n.*1275-10del) c.1685-10del (n.1685-10del) c.1580-10del (n.1580-10del) n.668-10del c.1577-10del (n.1577-10del) c.1499-10del (n.1499-10del) c.1595-10del (n.1595-10del) n.2093-10del c.1232-10del (n.1232-10del) c.1670-10del (n.1670-10del) c.1583-10del (n.1583-10del) c.1535-10del (n.1535-10del) c.1247-10del (n.1247-10del) c.1682-10del (n.1682-10del) c.1667-10del (n.1667-10del) | gnomAD v4 |
8 | g.71211269_71211270del | CA854889493 | EYA1 | c.1598-11_1598-10del (n.1598-11_1598-10del) c.1496-11_1496-10del (n.1496-11_1496-10del) c.1493-11_1493-10del (n.1493-11_1493-10del) c.*877-11_*877-10del (n.*877-11_*877-10del) n.2061-11_2061-10del c.*1275-11_*1275-10del (n.*1275-11_*1275-10del) c.1685-11_1685-10del (n.1685-11_1685-10del) c.1580-11_1580-10del (n.1580-11_1580-10del) n.668-11_668-10del c.1577-11_1577-10del (n.1577-11_1577-10del) c.1499-11_1499-10del (n.1499-11_1499-10del) c.1595-11_1595-10del (n.1595-11_1595-10del) n.2093-11_2093-10del c.1232-11_1232-10del (n.1232-11_1232-10del) c.1670-11_1670-10del (n.1670-11_1670-10del) c.1583-11_1583-10del (n.1583-11_1583-10del) c.1535-11_1535-10del (n.1535-11_1535-10del) c.1247-11_1247-10del (n.1247-11_1247-10del) c.1682-11_1682-10del (n.1682-11_1682-10del) c.1667-11_1667-10del (n.1667-11_1667-10del) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71211267A= | CA1792681712 | EYA1 | c.1598-11T= (n.1598-11T=) c.1496-11T= (n.1496-11T=) c.1493-11T= (n.1493-11T=) c.*877-11T= (n.*877-11T=) n.2061-11T= c.*1275-11T= (n.*1275-11T=) c.1685-11T= (n.1685-11T=) c.1580-11T= (n.1580-11T=) n.668-11T= c.1577-11T= (n.1577-11T=) c.1499-11T= (n.1499-11T=) c.1595-11T= (n.1595-11T=) n.2093-11T= c.1232-11T= (n.1232-11T=) c.1670-11T= (n.1670-11T=) c.1583-11T= (n.1583-11T=) c.1535-11T= (n.1535-11T=) c.1247-11T= (n.1247-11T=) c.1682-11T= (n.1682-11T=) c.1667-11T= (n.1667-11T=) | |
8 | g.71211267A>C | CA2579186631 | EYA1 | c.1598-11T>G (n.1598-11T>G) c.1496-11T>G (n.1496-11T>G) c.1493-11T>G (n.1493-11T>G) c.*877-11T>G (n.*877-11T>G) n.2061-11T>G c.*1275-11T>G (n.*1275-11T>G) c.1685-11T>G (n.1685-11T>G) c.1580-11T>G (n.1580-11T>G) n.668-11T>G c.1577-11T>G (n.1577-11T>G) c.1499-11T>G (n.1499-11T>G) c.1595-11T>G (n.1595-11T>G) n.2093-11T>G c.1232-11T>G (n.1232-11T>G) c.1670-11T>G (n.1670-11T>G) c.1583-11T>G (n.1583-11T>G) c.1535-11T>G (n.1535-11T>G) c.1247-11T>G (n.1247-11T>G) c.1682-11T>G (n.1682-11T>G) c.1667-11T>G (n.1667-11T>G) | gnomAD v4 |
8 | g.71211272_71211275dup | CA4779402 | EYA1 | c.1598-15_1598-12dup (n.1598-15_1598-12dup) c.1496-15_1496-12dup (n.1496-15_1496-12dup) c.1493-15_1493-12dup (n.1493-15_1493-12dup) c.*877-15_*877-12dup (n.*877-15_*877-12dup) n.2061-15_2061-12dup c.*1275-15_*1275-12dup (n.*1275-15_*1275-12dup) c.1685-15_1685-12dup (n.1685-15_1685-12dup) c.1580-15_1580-12dup (n.1580-15_1580-12dup) n.668-15_668-12dup c.1577-15_1577-12dup (n.1577-15_1577-12dup) c.1499-15_1499-12dup (n.1499-15_1499-12dup) c.1595-15_1595-12dup (n.1595-15_1595-12dup) n.2093-15_2093-12dup c.1232-15_1232-12dup (n.1232-15_1232-12dup) c.1670-15_1670-12dup (n.1670-15_1670-12dup) c.1583-15_1583-12dup (n.1583-15_1583-12dup) c.1535-15_1535-12dup (n.1535-15_1535-12dup) c.1247-15_1247-12dup (n.1247-15_1247-12dup) c.1682-15_1682-12dup (n.1682-15_1682-12dup) c.1667-15_1667-12dup (n.1667-15_1667-12dup) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211270A>G | CA2687599368 | EYA1 | c.1598-14T>C (n.1598-14T>C) c.1496-14T>C (n.1496-14T>C) c.1493-14T>C (n.1493-14T>C) c.*877-14T>C (n.*877-14T>C) n.2061-14T>C c.*1275-14T>C (n.*1275-14T>C) c.1685-14T>C (n.1685-14T>C) c.1580-14T>C (n.1580-14T>C) n.668-14T>C c.1577-14T>C (n.1577-14T>C) c.1499-14T>C (n.1499-14T>C) c.1595-14T>C (n.1595-14T>C) n.2093-14T>C c.1232-14T>C (n.1232-14T>C) c.1670-14T>C (n.1670-14T>C) c.1583-14T>C (n.1583-14T>C) c.1535-14T>C (n.1535-14T>C) c.1247-14T>C (n.1247-14T>C) c.1682-14T>C (n.1682-14T>C) c.1667-14T>C (n.1667-14T>C) | gnomAD v4 |
8 | g.71211271T>C | CA4779403 | EYA1 | c.1598-15A>G (n.1598-15A>G) c.1496-15A>G (n.1496-15A>G) c.1493-15A>G (n.1493-15A>G) c.*877-15A>G (n.*877-15A>G) n.2061-15A>G c.*1275-15A>G (n.*1275-15A>G) c.1685-15A>G (n.1685-15A>G) c.1580-15A>G (n.1580-15A>G) n.668-15A>G c.1577-15A>G (n.1577-15A>G) c.1499-15A>G (n.1499-15A>G) c.1595-15A>G (n.1595-15A>G) n.2093-15A>G c.1232-15A>G (n.1232-15A>G) c.1670-15A>G (n.1670-15A>G) c.1583-15A>G (n.1583-15A>G) c.1535-15A>G (n.1535-15A>G) c.1247-15A>G (n.1247-15A>G) c.1682-15A>G (n.1682-15A>G) c.1667-15A>G (n.1667-15A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211271T= | CA1792681716 | EYA1 | c.1598-15A= (n.1598-15A=) c.1496-15A= (n.1496-15A=) c.1493-15A= (n.1493-15A=) c.*877-15A= (n.*877-15A=) n.2061-15A= c.*1275-15A= (n.*1275-15A=) c.1685-15A= (n.1685-15A=) c.1580-15A= (n.1580-15A=) n.668-15A= c.1577-15A= (n.1577-15A=) c.1499-15A= (n.1499-15A=) c.1595-15A= (n.1595-15A=) n.2093-15A= c.1232-15A= (n.1232-15A=) c.1670-15A= (n.1670-15A=) c.1583-15A= (n.1583-15A=) c.1535-15A= (n.1535-15A=) c.1247-15A= (n.1247-15A=) c.1682-15A= (n.1682-15A=) c.1667-15A= (n.1667-15A=) | |
8 | g.71211274dup | CA2687599369 | EYA1 | c.1598-16dup (n.1598-16dup) c.1496-16dup (n.1496-16dup) c.1493-16dup (n.1493-16dup) c.*877-16dup (n.*877-16dup) n.2061-16dup c.*1275-16dup (n.*1275-16dup) c.1685-16dup (n.1685-16dup) c.1580-16dup (n.1580-16dup) n.668-16dup c.1577-16dup (n.1577-16dup) c.1499-16dup (n.1499-16dup) c.1595-16dup (n.1595-16dup) n.2093-16dup c.1232-16dup (n.1232-16dup) c.1670-16dup (n.1670-16dup) c.1583-16dup (n.1583-16dup) c.1535-16dup (n.1535-16dup) c.1247-16dup (n.1247-16dup) c.1682-16dup (n.1682-16dup) c.1667-16dup (n.1667-16dup) | gnomAD v4 |
8 | g.71211274A>G | CA2687599370 | EYA1 | c.1598-18T>C (n.1598-18T>C) c.1496-18T>C (n.1496-18T>C) c.1493-18T>C (n.1493-18T>C) c.*877-18T>C (n.*877-18T>C) n.2061-18T>C c.*1275-18T>C (n.*1275-18T>C) c.1685-18T>C (n.1685-18T>C) c.1580-18T>C (n.1580-18T>C) n.668-18T>C c.1577-18T>C (n.1577-18T>C) c.1499-18T>C (n.1499-18T>C) c.1595-18T>C (n.1595-18T>C) n.2093-18T>C c.1232-18T>C (n.1232-18T>C) c.1670-18T>C (n.1670-18T>C) c.1583-18T>C (n.1583-18T>C) c.1535-18T>C (n.1535-18T>C) c.1247-18T>C (n.1247-18T>C) c.1682-18T>C (n.1682-18T>C) c.1667-18T>C (n.1667-18T>C) | gnomAD v4 |
8 | g.71211275_71211278dup | CA2687599371 | EYA1 | c.1598-22_1598-19dup (n.1598-22_1598-19dup) c.1496-22_1496-19dup (n.1496-22_1496-19dup) c.1493-22_1493-19dup (n.1493-22_1493-19dup) c.*877-22_*877-19dup (n.*877-22_*877-19dup) n.2061-22_2061-19dup c.*1275-22_*1275-19dup (n.*1275-22_*1275-19dup) c.1685-22_1685-19dup (n.1685-22_1685-19dup) c.1580-22_1580-19dup (n.1580-22_1580-19dup) n.668-22_668-19dup c.1577-22_1577-19dup (n.1577-22_1577-19dup) c.1499-22_1499-19dup (n.1499-22_1499-19dup) c.1595-22_1595-19dup (n.1595-22_1595-19dup) n.2093-22_2093-19dup c.1232-22_1232-19dup (n.1232-22_1232-19dup) c.1670-22_1670-19dup (n.1670-22_1670-19dup) c.1583-22_1583-19dup (n.1583-22_1583-19dup) c.1535-22_1535-19dup (n.1535-22_1535-19dup) c.1247-22_1247-19dup (n.1247-22_1247-19dup) c.1682-22_1682-19dup (n.1682-22_1682-19dup) c.1667-22_1667-19dup (n.1667-22_1667-19dup) | gnomAD v4 |
8 | g.71211276G>C | CA4779404 | EYA1 | c.1598-20C>G (n.1598-20C>G) c.1496-20C>G (n.1496-20C>G) c.1493-20C>G (n.1493-20C>G) c.*877-20C>G (n.*877-20C>G) n.2061-20C>G c.*1275-20C>G (n.*1275-20C>G) c.1685-20C>G (n.1685-20C>G) c.1580-20C>G (n.1580-20C>G) n.668-20C>G c.1577-20C>G (n.1577-20C>G) c.1499-20C>G (n.1499-20C>G) c.1595-20C>G (n.1595-20C>G) n.2093-20C>G c.1232-20C>G (n.1232-20C>G) c.1670-20C>G (n.1670-20C>G) c.1583-20C>G (n.1583-20C>G) c.1535-20C>G (n.1535-20C>G) c.1247-20C>G (n.1247-20C>G) c.1682-20C>G (n.1682-20C>G) c.1667-20C>G (n.1667-20C>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211276G= | CA1792681719 | EYA1 | c.1598-20C= (n.1598-20C=) c.1496-20C= (n.1496-20C=) c.1493-20C= (n.1493-20C=) c.*877-20C= (n.*877-20C=) n.2061-20C= c.*1275-20C= (n.*1275-20C=) c.1685-20C= (n.1685-20C=) c.1580-20C= (n.1580-20C=) n.668-20C= c.1577-20C= (n.1577-20C=) c.1499-20C= (n.1499-20C=) c.1595-20C= (n.1595-20C=) n.2093-20C= c.1232-20C= (n.1232-20C=) c.1670-20C= (n.1670-20C=) c.1583-20C= (n.1583-20C=) c.1535-20C= (n.1535-20C=) c.1247-20C= (n.1247-20C=) c.1682-20C= (n.1682-20C=) c.1667-20C= (n.1667-20C=) | |
8 | g.71211276G>T | CA2687599372 | EYA1 | c.1598-20C>A (n.1598-20C>A) c.1496-20C>A (n.1496-20C>A) c.1493-20C>A (n.1493-20C>A) c.*877-20C>A (n.*877-20C>A) n.2061-20C>A c.*1275-20C>A (n.*1275-20C>A) c.1685-20C>A (n.1685-20C>A) c.1580-20C>A (n.1580-20C>A) n.668-20C>A c.1577-20C>A (n.1577-20C>A) c.1499-20C>A (n.1499-20C>A) c.1595-20C>A (n.1595-20C>A) n.2093-20C>A c.1232-20C>A (n.1232-20C>A) c.1670-20C>A (n.1670-20C>A) c.1583-20C>A (n.1583-20C>A) c.1535-20C>A (n.1535-20C>A) c.1247-20C>A (n.1247-20C>A) c.1682-20C>A (n.1682-20C>A) c.1667-20C>A (n.1667-20C>A) | gnomAD v4 |
8 | g.71211277A>G | CA2717487128 | EYA1 | c.1598-21T>C (n.1598-21T>C) c.1496-21T>C (n.1496-21T>C) c.1493-21T>C (n.1493-21T>C) c.*877-21T>C (n.*877-21T>C) n.2061-21T>C c.*1275-21T>C (n.*1275-21T>C) c.1685-21T>C (n.1685-21T>C) c.1580-21T>C (n.1580-21T>C) n.668-21T>C c.1577-21T>C (n.1577-21T>C) c.1499-21T>C (n.1499-21T>C) c.1595-21T>C (n.1595-21T>C) n.2093-21T>C c.1232-21T>C (n.1232-21T>C) c.1670-21T>C (n.1670-21T>C) c.1583-21T>C (n.1583-21T>C) c.1535-21T>C (n.1535-21T>C) c.1247-21T>C (n.1247-21T>C) c.1682-21T>C (n.1682-21T>C) c.1667-21T>C (n.1667-21T>C) | dbSNP |
8 | g.71211278T>A | CA2687599373 | EYA1 | c.1598-22A>T (n.1598-22A>T) c.1496-22A>T (n.1496-22A>T) c.1493-22A>T (n.1493-22A>T) c.*877-22A>T (n.*877-22A>T) n.2061-22A>T c.*1275-22A>T (n.*1275-22A>T) c.1685-22A>T (n.1685-22A>T) c.1580-22A>T (n.1580-22A>T) n.668-22A>T c.1577-22A>T (n.1577-22A>T) c.1499-22A>T (n.1499-22A>T) c.1595-22A>T (n.1595-22A>T) n.2093-22A>T c.1232-22A>T (n.1232-22A>T) c.1670-22A>T (n.1670-22A>T) c.1583-22A>T (n.1583-22A>T) c.1535-22A>T (n.1535-22A>T) c.1247-22A>T (n.1247-22A>T) c.1682-22A>T (n.1682-22A>T) c.1667-22A>T (n.1667-22A>T) | gnomAD v4 |
8 | g.71211278T>C | CA4779405 | EYA1 | c.1598-22A>G (n.1598-22A>G) c.1496-22A>G (n.1496-22A>G) c.1493-22A>G (n.1493-22A>G) c.*877-22A>G (n.*877-22A>G) n.2061-22A>G c.*1275-22A>G (n.*1275-22A>G) c.1685-22A>G (n.1685-22A>G) c.1580-22A>G (n.1580-22A>G) n.668-22A>G c.1577-22A>G (n.1577-22A>G) c.1499-22A>G (n.1499-22A>G) c.1595-22A>G (n.1595-22A>G) n.2093-22A>G c.1232-22A>G (n.1232-22A>G) c.1670-22A>G (n.1670-22A>G) c.1583-22A>G (n.1583-22A>G) c.1535-22A>G (n.1535-22A>G) c.1247-22A>G (n.1247-22A>G) c.1682-22A>G (n.1682-22A>G) c.1667-22A>G (n.1667-22A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211278T= | CA1792681722 | EYA1 | c.1598-22A= (n.1598-22A=) c.1496-22A= (n.1496-22A=) c.1493-22A= (n.1493-22A=) c.*877-22A= (n.*877-22A=) n.2061-22A= c.*1275-22A= (n.*1275-22A=) c.1685-22A= (n.1685-22A=) c.1580-22A= (n.1580-22A=) n.668-22A= c.1577-22A= (n.1577-22A=) c.1499-22A= (n.1499-22A=) c.1595-22A= (n.1595-22A=) n.2093-22A= c.1232-22A= (n.1232-22A=) c.1670-22A= (n.1670-22A=) c.1583-22A= (n.1583-22A=) c.1535-22A= (n.1535-22A=) c.1247-22A= (n.1247-22A=) c.1682-22A= (n.1682-22A=) c.1667-22A= (n.1667-22A=) | |
8 | g.71211280G>A | CA1792681725 | EYA1 | c.1598-24C>T (n.1598-24C>T) c.1496-24C>T (n.1496-24C>T) c.1493-24C>T (n.1493-24C>T) c.*877-24C>T (n.*877-24C>T) n.2061-24C>T c.*1275-24C>T (n.*1275-24C>T) c.1685-24C>T (n.1685-24C>T) c.1580-24C>T (n.1580-24C>T) n.668-24C>T c.1577-24C>T (n.1577-24C>T) c.1499-24C>T (n.1499-24C>T) c.1595-24C>T (n.1595-24C>T) n.2093-24C>T c.1232-24C>T (n.1232-24C>T) c.1670-24C>T (n.1670-24C>T) c.1583-24C>T (n.1583-24C>T) c.1535-24C>T (n.1535-24C>T) c.1247-24C>T (n.1247-24C>T) c.1682-24C>T (n.1682-24C>T) c.1667-24C>T (n.1667-24C>T) | dbSNP gnomAD v4 |
8 | g.71211280G= | CA1792681724 | EYA1 | c.1598-24C= (n.1598-24C=) c.1496-24C= (n.1496-24C=) c.1493-24C= (n.1493-24C=) c.*877-24C= (n.*877-24C=) n.2061-24C= c.*1275-24C= (n.*1275-24C=) c.1685-24C= (n.1685-24C=) c.1580-24C= (n.1580-24C=) n.668-24C= c.1577-24C= (n.1577-24C=) c.1499-24C= (n.1499-24C=) c.1595-24C= (n.1595-24C=) n.2093-24C= c.1232-24C= (n.1232-24C=) c.1670-24C= (n.1670-24C=) c.1583-24C= (n.1583-24C=) c.1535-24C= (n.1535-24C=) c.1247-24C= (n.1247-24C=) c.1682-24C= (n.1682-24C=) c.1667-24C= (n.1667-24C=) | |
8 | g.71211280G>T | CA854889511 | EYA1 | c.1598-24C>A (n.1598-24C>A) c.1496-24C>A (n.1496-24C>A) c.1493-24C>A (n.1493-24C>A) c.*877-24C>A (n.*877-24C>A) n.2061-24C>A c.*1275-24C>A (n.*1275-24C>A) c.1685-24C>A (n.1685-24C>A) c.1580-24C>A (n.1580-24C>A) n.668-24C>A c.1577-24C>A (n.1577-24C>A) c.1499-24C>A (n.1499-24C>A) c.1595-24C>A (n.1595-24C>A) n.2093-24C>A c.1232-24C>A (n.1232-24C>A) c.1670-24C>A (n.1670-24C>A) c.1583-24C>A (n.1583-24C>A) c.1535-24C>A (n.1535-24C>A) c.1247-24C>A (n.1247-24C>A) c.1682-24C>A (n.1682-24C>A) c.1667-24C>A (n.1667-24C>A) | dbSNP gnomAD v3 gnomAD v4 |
8 | g.71211282_71211303delinsAAATGTGAAGTTTGGGTAACCT | CA1792681726 | EYA1 | c.1598-47_1598-26delinsAGGTTACCCAAACTTCACATTT (n.1598-47_1598-26delinsAGGTTACCCAAACTTCACATTT) c.1496-47_1496-26delinsAGGTTACCCAAACTTCACATTT (n.1496-47_1496-26delinsAGGTTACCCAAACTTCACATTT) c.1493-47_1493-26delinsAGGTTACCCAAACTTCACATTT (n.1493-47_1493-26delinsAGGTTACCCAAACTTCACATTT) c.*877-47_*877-26delinsAGGTTACCCAAACTTCACATTT (n.*877-47_*877-26delinsAGGTTACCCAAACTTCACATTT) n.2061-47_2061-26delinsAGGTTACCCAAACTTCACATTT c.*1275-47_*1275-26delinsAGGTTACCCAAACTTCACATTT (n.*1275-47_*1275-26delinsAGGTTACCCAAACTTCACATTT) c.1685-47_1685-26delinsAGGTTACCCAAACTTCACATTT (n.1685-47_1685-26delinsAGGTTACCCAAACTTCACATTT) c.1580-47_1580-26delinsAGGTTACCCAAACTTCACATTT (n.1580-47_1580-26delinsAGGTTACCCAAACTTCACATTT) n.668-47_668-26delinsAGGTTACCCAAACTTCACATTT c.1577-47_1577-26delinsAGGTTACCCAAACTTCACATTT (n.1577-47_1577-26delinsAGGTTACCCAAACTTCACATTT) c.1499-47_1499-26delinsAGGTTACCCAAACTTCACATTT (n.1499-47_1499-26delinsAGGTTACCCAAACTTCACATTT) c.1595-47_1595-26delinsAGGTTACCCAAACTTCACATTT (n.1595-47_1595-26delinsAGGTTACCCAAACTTCACATTT) n.2093-47_2093-26delinsAGGTTACCCAAACTTCACATTT c.1232-47_1232-26delinsAGGTTACCCAAACTTCACATTT (n.1232-47_1232-26delinsAGGTTACCCAAACTTCACATTT) c.1670-47_1670-26delinsAGGTTACCCAAACTTCACATTT (n.1670-47_1670-26delinsAGGTTACCCAAACTTCACATTT) c.1583-47_1583-26delinsAGGTTACCCAAACTTCACATTT (n.1583-47_1583-26delinsAGGTTACCCAAACTTCACATTT) c.1535-47_1535-26delinsAGGTTACCCAAACTTCACATTT (n.1535-47_1535-26delinsAGGTTACCCAAACTTCACATTT) c.1247-47_1247-26delinsAGGTTACCCAAACTTCACATTT (n.1247-47_1247-26delinsAGGTTACCCAAACTTCACATTT) c.1682-47_1682-26delinsAGGTTACCCAAACTTCACATTT (n.1682-47_1682-26delinsAGGTTACCCAAACTTCACATTT) c.1667-47_1667-26delinsAGGTTACCCAAACTTCACATTT (n.1667-47_1667-26delinsAGGTTACCCAAACTTCACATTT) | |
8 | g.71211283A= | CA1792681730 | EYA1 | c.1598-27T= (n.1598-27T=) c.1496-27T= (n.1496-27T=) c.1493-27T= (n.1493-27T=) c.*877-27T= (n.*877-27T=) n.2061-27T= c.*1275-27T= (n.*1275-27T=) c.1685-27T= (n.1685-27T=) c.1580-27T= (n.1580-27T=) n.668-27T= c.1577-27T= (n.1577-27T=) c.1499-27T= (n.1499-27T=) c.1595-27T= (n.1595-27T=) n.2093-27T= c.1232-27T= (n.1232-27T=) c.1670-27T= (n.1670-27T=) c.1583-27T= (n.1583-27T=) c.1535-27T= (n.1535-27T=) c.1247-27T= (n.1247-27T=) c.1682-27T= (n.1682-27T=) c.1667-27T= (n.1667-27T=) | |
8 | g.71211283A>G | CA1792681728 | EYA1 | c.1598-27T>C (n.1598-27T>C) c.1496-27T>C (n.1496-27T>C) c.1493-27T>C (n.1493-27T>C) c.*877-27T>C (n.*877-27T>C) n.2061-27T>C c.*1275-27T>C (n.*1275-27T>C) c.1685-27T>C (n.1685-27T>C) c.1580-27T>C (n.1580-27T>C) n.668-27T>C c.1577-27T>C (n.1577-27T>C) c.1499-27T>C (n.1499-27T>C) c.1595-27T>C (n.1595-27T>C) n.2093-27T>C c.1232-27T>C (n.1232-27T>C) c.1670-27T>C (n.1670-27T>C) c.1583-27T>C (n.1583-27T>C) c.1535-27T>C (n.1535-27T>C) c.1247-27T>C (n.1247-27T>C) c.1682-27T>C (n.1682-27T>C) c.1667-27T>C (n.1667-27T>C) | dbSNP |
8 | g.71211290_71211310del | CA4779406 | EYA1 | c.1598-47_1598-27del (n.1598-47_1598-27del) c.1496-47_1496-27del (n.1496-47_1496-27del) c.1493-47_1493-27del (n.1493-47_1493-27del) c.*877-47_*877-27del (n.*877-47_*877-27del) n.2061-47_2061-27del c.*1275-47_*1275-27del (n.*1275-47_*1275-27del) c.1685-47_1685-27del (n.1685-47_1685-27del) c.1580-47_1580-27del (n.1580-47_1580-27del) n.668-47_668-27del c.1577-47_1577-27del (n.1577-47_1577-27del) c.1499-47_1499-27del (n.1499-47_1499-27del) c.1595-47_1595-27del (n.1595-47_1595-27del) n.2093-47_2093-27del c.1232-47_1232-27del (n.1232-47_1232-27del) c.1670-47_1670-27del (n.1670-47_1670-27del) c.1583-47_1583-27del (n.1583-47_1583-27del) c.1535-47_1535-27del (n.1535-47_1535-27del) c.1247-47_1247-27del (n.1247-47_1247-27del) c.1682-47_1682-27del (n.1682-47_1682-27del) c.1667-47_1667-27del (n.1667-47_1667-27del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211288G>A | CA2579186633 | EYA1 | c.1598-32C>T (n.1598-32C>T) c.1496-32C>T (n.1496-32C>T) c.1493-32C>T (n.1493-32C>T) c.*877-32C>T (n.*877-32C>T) n.2061-32C>T c.*1275-32C>T (n.*1275-32C>T) c.1685-32C>T (n.1685-32C>T) c.1580-32C>T (n.1580-32C>T) n.668-32C>T c.1577-32C>T (n.1577-32C>T) c.1499-32C>T (n.1499-32C>T) c.1595-32C>T (n.1595-32C>T) n.2093-32C>T c.1232-32C>T (n.1232-32C>T) c.1670-32C>T (n.1670-32C>T) c.1583-32C>T (n.1583-32C>T) c.1535-32C>T (n.1535-32C>T) c.1247-32C>T (n.1247-32C>T) c.1682-32C>T (n.1682-32C>T) c.1667-32C>T (n.1667-32C>T) | |
8 | g.71211289A= | CA1792681732 | EYA1 | c.1598-33T= (n.1598-33T=) c.1496-33T= (n.1496-33T=) c.1493-33T= (n.1493-33T=) c.*877-33T= (n.*877-33T=) n.2061-33T= c.*1275-33T= (n.*1275-33T=) c.1685-33T= (n.1685-33T=) c.1580-33T= (n.1580-33T=) n.668-33T= c.1577-33T= (n.1577-33T=) c.1499-33T= (n.1499-33T=) c.1595-33T= (n.1595-33T=) n.2093-33T= c.1232-33T= (n.1232-33T=) c.1670-33T= (n.1670-33T=) c.1583-33T= (n.1583-33T=) c.1535-33T= (n.1535-33T=) c.1247-33T= (n.1247-33T=) c.1682-33T= (n.1682-33T=) c.1667-33T= (n.1667-33T=) | |
8 | g.71211289A>G | CA4779407 | EYA1 | c.1598-33T>C (n.1598-33T>C) c.1496-33T>C (n.1496-33T>C) c.1493-33T>C (n.1493-33T>C) c.*877-33T>C (n.*877-33T>C) n.2061-33T>C c.*1275-33T>C (n.*1275-33T>C) c.1685-33T>C (n.1685-33T>C) c.1580-33T>C (n.1580-33T>C) n.668-33T>C c.1577-33T>C (n.1577-33T>C) c.1499-33T>C (n.1499-33T>C) c.1595-33T>C (n.1595-33T>C) n.2093-33T>C c.1232-33T>C (n.1232-33T>C) c.1670-33T>C (n.1670-33T>C) c.1583-33T>C (n.1583-33T>C) c.1535-33T>C (n.1535-33T>C) c.1247-33T>C (n.1247-33T>C) c.1682-33T>C (n.1682-33T>C) c.1667-33T>C (n.1667-33T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211290A= | CA1792681735 | EYA1 | c.1598-34T= (n.1598-34T=) c.1496-34T= (n.1496-34T=) c.1493-34T= (n.1493-34T=) c.*877-34T= (n.*877-34T=) n.2061-34T= c.*1275-34T= (n.*1275-34T=) c.1685-34T= (n.1685-34T=) c.1580-34T= (n.1580-34T=) n.668-34T= c.1577-34T= (n.1577-34T=) c.1499-34T= (n.1499-34T=) c.1595-34T= (n.1595-34T=) n.2093-34T= c.1232-34T= (n.1232-34T=) c.1670-34T= (n.1670-34T=) c.1583-34T= (n.1583-34T=) c.1535-34T= (n.1535-34T=) c.1247-34T= (n.1247-34T=) c.1682-34T= (n.1682-34T=) c.1667-34T= (n.1667-34T=) | |
8 | g.71211290A>C | CA652407951 | EYA1 | c.1598-34T>G (n.1598-34T>G) c.1496-34T>G (n.1496-34T>G) c.1493-34T>G (n.1493-34T>G) c.*877-34T>G (n.*877-34T>G) n.2061-34T>G c.*1275-34T>G (n.*1275-34T>G) c.1685-34T>G (n.1685-34T>G) c.1580-34T>G (n.1580-34T>G) n.668-34T>G c.1577-34T>G (n.1577-34T>G) c.1499-34T>G (n.1499-34T>G) c.1595-34T>G (n.1595-34T>G) n.2093-34T>G c.1232-34T>G (n.1232-34T>G) c.1670-34T>G (n.1670-34T>G) c.1583-34T>G (n.1583-34T>G) c.1535-34T>G (n.1535-34T>G) c.1247-34T>G (n.1247-34T>G) c.1682-34T>G (n.1682-34T>G) c.1667-34T>G (n.1667-34T>G) | gnomAD v4 COSMIC |
8 | g.71211290A>G | CA652407952 | EYA1 | c.1598-34T>C (n.1598-34T>C) c.1496-34T>C (n.1496-34T>C) c.1493-34T>C (n.1493-34T>C) c.*877-34T>C (n.*877-34T>C) n.2061-34T>C c.*1275-34T>C (n.*1275-34T>C) c.1685-34T>C (n.1685-34T>C) c.1580-34T>C (n.1580-34T>C) n.668-34T>C c.1577-34T>C (n.1577-34T>C) c.1499-34T>C (n.1499-34T>C) c.1595-34T>C (n.1595-34T>C) n.2093-34T>C c.1232-34T>C (n.1232-34T>C) c.1670-34T>C (n.1670-34T>C) c.1583-34T>C (n.1583-34T>C) c.1535-34T>C (n.1535-34T>C) c.1247-34T>C (n.1247-34T>C) c.1682-34T>C (n.1682-34T>C) c.1667-34T>C (n.1667-34T>C) | gnomAD v4 COSMIC |
8 | g.71211290A>T | CA4779408 | EYA1 | c.1598-34T>A (n.1598-34T>A) c.1496-34T>A (n.1496-34T>A) c.1493-34T>A (n.1493-34T>A) c.*877-34T>A (n.*877-34T>A) n.2061-34T>A c.*1275-34T>A (n.*1275-34T>A) c.1685-34T>A (n.1685-34T>A) c.1580-34T>A (n.1580-34T>A) n.668-34T>A c.1577-34T>A (n.1577-34T>A) c.1499-34T>A (n.1499-34T>A) c.1595-34T>A (n.1595-34T>A) n.2093-34T>A c.1232-34T>A (n.1232-34T>A) c.1670-34T>A (n.1670-34T>A) c.1583-34T>A (n.1583-34T>A) c.1535-34T>A (n.1535-34T>A) c.1247-34T>A (n.1247-34T>A) c.1682-34T>A (n.1682-34T>A) c.1667-34T>A (n.1667-34T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
8 | g.71211291G>T | CA2687599374 | EYA1 | c.1598-35C>A (n.1598-35C>A) c.1496-35C>A (n.1496-35C>A) c.1493-35C>A (n.1493-35C>A) c.*877-35C>A (n.*877-35C>A) n.2061-35C>A c.*1275-35C>A (n.*1275-35C>A) c.1685-35C>A (n.1685-35C>A) c.1580-35C>A (n.1580-35C>A) n.668-35C>A c.1577-35C>A (n.1577-35C>A) c.1499-35C>A (n.1499-35C>A) c.1595-35C>A (n.1595-35C>A) n.2093-35C>A c.1232-35C>A (n.1232-35C>A) c.1670-35C>A (n.1670-35C>A) c.1583-35C>A (n.1583-35C>A) c.1535-35C>A (n.1535-35C>A) c.1247-35C>A (n.1247-35C>A) c.1682-35C>A (n.1682-35C>A) c.1667-35C>A (n.1667-35C>A) | gnomAD v4 |
8 | g.71211292T>C | CA4779410 | EYA1 | c.1598-36A>G (n.1598-36A>G) c.1496-36A>G (n.1496-36A>G) c.1493-36A>G (n.1493-36A>G) c.*877-36A>G (n.*877-36A>G) n.2061-36A>G c.*1275-36A>G (n.*1275-36A>G) c.1685-36A>G (n.1685-36A>G) c.1580-36A>G (n.1580-36A>G) n.668-36A>G c.1577-36A>G (n.1577-36A>G) c.1499-36A>G (n.1499-36A>G) c.1595-36A>G (n.1595-36A>G) n.2093-36A>G c.1232-36A>G (n.1232-36A>G) c.1670-36A>G (n.1670-36A>G) c.1583-36A>G (n.1583-36A>G) c.1535-36A>G (n.1535-36A>G) c.1247-36A>G (n.1247-36A>G) c.1682-36A>G (n.1682-36A>G) c.1667-36A>G (n.1667-36A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211292T>G | CA4779409 | EYA1 | c.1598-36A>C (n.1598-36A>C) c.1496-36A>C (n.1496-36A>C) c.1493-36A>C (n.1493-36A>C) c.*877-36A>C (n.*877-36A>C) n.2061-36A>C c.*1275-36A>C (n.*1275-36A>C) c.1685-36A>C (n.1685-36A>C) c.1580-36A>C (n.1580-36A>C) n.668-36A>C c.1577-36A>C (n.1577-36A>C) c.1499-36A>C (n.1499-36A>C) c.1595-36A>C (n.1595-36A>C) n.2093-36A>C c.1232-36A>C (n.1232-36A>C) c.1670-36A>C (n.1670-36A>C) c.1583-36A>C (n.1583-36A>C) c.1535-36A>C (n.1535-36A>C) c.1247-36A>C (n.1247-36A>C) c.1682-36A>C (n.1682-36A>C) c.1667-36A>C (n.1667-36A>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
8 | g.71211292T= | CA1792681738 | EYA1 | c.1598-36A= (n.1598-36A=) c.1496-36A= (n.1496-36A=) c.1493-36A= (n.1493-36A=) c.*877-36A= (n.*877-36A=) n.2061-36A= c.*1275-36A= (n.*1275-36A=) c.1685-36A= (n.1685-36A=) c.1580-36A= (n.1580-36A=) n.668-36A= c.1577-36A= (n.1577-36A=) c.1499-36A= (n.1499-36A=) c.1595-36A= (n.1595-36A=) n.2093-36A= c.1232-36A= (n.1232-36A=) c.1670-36A= (n.1670-36A=) c.1583-36A= (n.1583-36A=) c.1535-36A= (n.1535-36A=) c.1247-36A= (n.1247-36A=) c.1682-36A= (n.1682-36A=) c.1667-36A= (n.1667-36A=) | |
8 | g.71211294del | CA2687599375 | EYA1 | c.1598-36del (n.1598-36del) c.1496-36del (n.1496-36del) c.1493-36del (n.1493-36del) c.*877-36del (n.*877-36del) n.2061-36del c.*1275-36del (n.*1275-36del) c.1685-36del (n.1685-36del) c.1580-36del (n.1580-36del) n.668-36del c.1577-36del (n.1577-36del) c.1499-36del (n.1499-36del) c.1595-36del (n.1595-36del) n.2093-36del c.1232-36del (n.1232-36del) c.1670-36del (n.1670-36del) c.1583-36del (n.1583-36del) c.1535-36del (n.1535-36del) c.1247-36del (n.1247-36del) c.1682-36del (n.1682-36del) c.1667-36del (n.1667-36del) | gnomAD v4 |