| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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=) |