| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.71216733C>A | CA371466657 | EYA1 | c.1319G>T (p.Arg440Leu) c.1217G>T (p.Arg406Leu) c.1214G>T (p.Arg405Leu) c.*598G>T (n.*598G>T) c.709G>T n.1782G>T c.*996G>T (n.*996G>T) c.1406G>T (p.Arg469Leu) c.1301G>T (p.Arg434Leu) n.389G>T c.1298G>T (p.Arg433Leu) c.1220G>T (p.Arg407Leu) c.1316G>T (p.Arg439Leu) c.*264G>T (n.*264G>T) n.1814G>T c.953G>T (p.Arg318Leu) c.1391G>T (p.Arg464Leu) c.1304G>T (p.Arg435Leu) c.1256G>T (p.Arg419Leu) c.968G>T (p.Arg323Leu) c.1403G>T (p.Arg468Leu) c.1388G>T (p.Arg463Leu) | gnomAD v4 |
| 8 | g.71216733C= | CA1792692751 | EYA1 | c.1319G= (p.Arg440=) c.1217G= (p.Arg406=) c.1214G= (p.Arg405=) c.*598G= (n.*598G=) c.709G= n.1782G= c.*996G= (n.*996G=) c.1406G= (p.Arg469=) c.1301G= (p.Arg434=) n.389G= c.1298G= (p.Arg433=) c.1220G= (p.Arg407=) c.1316G= (p.Arg439=) c.*264G= (n.*264G=) n.1814G= c.953G= (p.Arg318=) c.1391G= (p.Arg464=) c.1304G= (p.Arg435=) c.1256G= (p.Arg419=) c.968G= (p.Arg323=) c.1403G= (p.Arg468=) c.1388G= (p.Arg463=) | |
| 8 | g.71216733C>G | CA371466658 | EYA1 | c.1319G>C (p.Arg440Pro) c.1217G>C (p.Arg406Pro) c.1214G>C (p.Arg405Pro) c.*598G>C (n.*598G>C) c.709G>C n.1782G>C c.*996G>C (n.*996G>C) c.1406G>C (p.Arg469Pro) c.1301G>C (p.Arg434Pro) n.389G>C c.1298G>C (p.Arg433Pro) c.1220G>C (p.Arg407Pro) c.1316G>C (p.Arg439Pro) c.*264G>C (n.*264G>C) n.1814G>C c.953G>C (p.Arg318Pro) c.1391G>C (p.Arg464Pro) c.1304G>C (p.Arg435Pro) c.1256G>C (p.Arg419Pro) c.968G>C (p.Arg323Pro) c.1403G>C (p.Arg468Pro) c.1388G>C (p.Arg463Pro) | gnomAD v4 |
| 8 | g.71216733C>T | CA254271 | EYA1 | c.1319G>A (p.Arg440Gln) c.1217G>A (p.Arg406Gln) c.1214G>A (p.Arg405Gln) c.*598G>A (n.*598G>A) c.709G>A n.1782G>A c.*996G>A (n.*996G>A) c.1406G>A (p.Arg469Gln) c.1301G>A (p.Arg434Gln) n.389G>A c.1298G>A (p.Arg433Gln) c.1220G>A (p.Arg407Gln) c.1316G>A (p.Arg439Gln) c.*264G>A (n.*264G>A) n.1814G>A c.953G>A (p.Arg318Gln) c.1391G>A (p.Arg464Gln) c.1304G>A (p.Arg435Gln) c.1256G>A (p.Arg419Gln) c.968G>A (p.Arg323Gln) c.1403G>A (p.Arg468Gln) c.1388G>A (p.Arg463Gln) | ClinVar dbSNP |
| 8 | g.71216733_71216734insAAAATC | CA2503107901 | EYA1 | c.1319_1320insATTTTG (p.Arg440_Val441insPheTrp) c.1217_1218insATTTTG (p.Arg406_Val407insPheTrp) c.1214_1215insATTTTG (p.Arg405_Val406insPheTrp) c.*598_*599insATTTTG (n.*598_*599insATTTTG) c.709_710insATTTTG n.1782_1783insATTTTG c.*996_*997insATTTTG (n.*996_*997insATTTTG) c.1406_1407insATTTTG (p.Arg469_Val470insPheTrp) c.1301_1302insATTTTG (p.Arg434_Val435insPheTrp) n.389_390insATTTTG c.1298_1299insATTTTG (p.Arg433_Val434insPheTrp) c.1220_1221insATTTTG (p.Arg407_Val408insPheTrp) c.1316_1317insATTTTG (p.Arg439_Val440insPheTrp) c.*264_*265insATTTTG (n.*264_*265insATTTTG) n.1814_1815insATTTTG c.953_954insATTTTG (p.Arg318_Val319insPheTrp) c.1391_1392insATTTTG (p.Arg464_Val465insPheTrp) c.1304_1305insATTTTG (p.Arg435_Val436insPheTrp) c.1256_1257insATTTTG (p.Arg419_Val420insPheTrp) c.968_969insATTTTG (p.Arg323_Val324insPheTrp) c.1403_1404insATTTTG (p.Arg468_Val469insPheTrp) c.1388_1389insATTTTG (p.Arg463_Val464insPheTrp) | |
| 8 | g.71216734G>A | CA4779503 | EYA1 | c.1318C>T (p.Arg440Trp) c.1216C>T (p.Arg406Trp) c.1213C>T (p.Arg405Trp) c.*597C>T (n.*597C>T) c.708C>T n.1781C>T c.*995C>T (n.*995C>T) c.1405C>T (p.Arg469Trp) c.1300C>T (p.Arg434Trp) n.388C>T c.1297C>T (p.Arg433Trp) c.1219C>T (p.Arg407Trp) c.1315C>T (p.Arg439Trp) c.*263C>T (n.*263C>T) n.1813C>T c.952C>T (p.Arg318Trp) c.1390C>T (p.Arg464Trp) c.1303C>T (p.Arg435Trp) c.1255C>T (p.Arg419Trp) c.967C>T (p.Arg323Trp) c.1402C>T (p.Arg468Trp) c.1387C>T (p.Arg463Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216734G>C | CA371466659 | EYA1 | c.1318C>G (p.Arg440Gly) c.1216C>G (p.Arg406Gly) c.1213C>G (p.Arg405Gly) c.*597C>G (n.*597C>G) c.708C>G n.1781C>G c.*995C>G (n.*995C>G) c.1405C>G (p.Arg469Gly) c.1300C>G (p.Arg434Gly) n.388C>G c.1297C>G (p.Arg433Gly) c.1219C>G (p.Arg407Gly) c.1315C>G (p.Arg439Gly) c.*263C>G (n.*263C>G) n.1813C>G c.952C>G (p.Arg318Gly) c.1390C>G (p.Arg464Gly) c.1303C>G (p.Arg435Gly) c.1255C>G (p.Arg419Gly) c.967C>G (p.Arg323Gly) c.1402C>G (p.Arg468Gly) c.1387C>G (p.Arg463Gly) | |
| 8 | g.71216734G= | CA1792692757 | EYA1 | c.1318C= (p.Arg440=) c.1216C= (p.Arg406=) c.1213C= (p.Arg405=) c.*597C= (n.*597C=) c.708C= n.1781C= c.*995C= (n.*995C=) c.1405C= (p.Arg469=) c.1300C= (p.Arg434=) n.388C= c.1297C= (p.Arg433=) c.1219C= (p.Arg407=) c.1315C= (p.Arg439=) c.*263C= (n.*263C=) n.1813C= c.952C= (p.Arg318=) c.1390C= (p.Arg464=) c.1303C= (p.Arg435=) c.1255C= (p.Arg419=) c.967C= (p.Arg323=) c.1402C= (p.Arg468=) c.1387C= (p.Arg463=) | |
| 8 | g.71216734G>T | CA461433895 | EYA1 | c.1318C>A (p.Arg440=) c.1216C>A (p.Arg406=) c.1213C>A (p.Arg405=) c.*597C>A (n.*597C>A) c.708C>A n.1781C>A c.*995C>A (n.*995C>A) c.1405C>A (p.Arg469=) c.1300C>A (p.Arg434=) n.388C>A c.1297C>A (p.Arg433=) c.1219C>A (p.Arg407=) c.1315C>A (p.Arg439=) c.*263C>A (n.*263C>A) n.1813C>A c.952C>A (p.Arg318=) c.1390C>A (p.Arg464=) c.1303C>A (p.Arg435=) c.1255C>A (p.Arg419=) c.967C>A (p.Arg323=) c.1402C>A (p.Arg468=) c.1387C>A (p.Arg463=) | COSMIC COSMIC |
| 8 | g.71216736_71216739dup | CA2695209873 | EYA1 | c.1315_1318dup (p.Arg440GlnfsTer13) c.1213_1216dup (p.Arg406GlnfsTer13) c.1210_1213dup (p.Arg405GlnfsTer13) c.*594_*597dup (n.*594_*597dup) c.705_708dup n.1778_1781dup c.*992_*995dup (n.*992_*995dup) c.1402_1405dup (p.Arg469GlnfsTer13) c.1297_1300dup (p.Arg434GlnfsTer13) n.385_388dup c.1294_1297dup (p.Arg433GlnfsTer13) c.1216_1219dup (p.Arg407GlnfsTer13) c.1312_1315dup (p.Arg439GlnfsTer13) c.*260_*263dup (n.*260_*263dup) n.1810_1813dup c.949_952dup (p.Arg318GlnfsTer13) c.1387_1390dup (p.Arg464GlnfsTer13) c.1300_1303dup (p.Arg435GlnfsTer13) c.1252_1255dup (p.Arg419GlnfsTer13) c.964_967dup (p.Arg323GlnfsTer13) c.1399_1402dup (p.Arg468GlnfsTer13) c.1384_1387dup (p.Arg463GlnfsTer13) | |
| 8 | g.71216735T>A | CA371466660 | EYA1 | c.1317A>T (p.Arg439Ser) c.1215A>T (p.Arg405Ser) c.1212A>T (p.Arg404Ser) c.*596A>T (n.*596A>T) c.707A>T n.1780A>T c.*994A>T (n.*994A>T) c.1404A>T (p.Arg468Ser) c.1299A>T (p.Arg433Ser) n.387A>T c.1296A>T (p.Arg432Ser) c.1218A>T (p.Arg406Ser) c.1314A>T (p.Arg438Ser) c.*262A>T (n.*262A>T) n.1812A>T c.951A>T (p.Arg317Ser) c.1389A>T (p.Arg463Ser) c.1302A>T (p.Arg434Ser) c.1254A>T (p.Arg418Ser) c.966A>T (p.Arg322Ser) c.1401A>T (p.Arg467Ser) c.1386A>T (p.Arg462Ser) | gnomAD v4 |
| 8 | g.71216735T>C | CA461433897 | EYA1 | c.1317A>G (p.Arg439=) c.1215A>G (p.Arg405=) c.1212A>G (p.Arg404=) c.*596A>G (n.*596A>G) c.707A>G n.1780A>G c.*994A>G (n.*994A>G) c.1404A>G (p.Arg468=) c.1299A>G (p.Arg433=) n.387A>G c.1296A>G (p.Arg432=) c.1218A>G (p.Arg406=) c.1314A>G (p.Arg438=) c.*262A>G (n.*262A>G) n.1812A>G c.951A>G (p.Arg317=) c.1389A>G (p.Arg463=) c.1302A>G (p.Arg434=) c.1254A>G (p.Arg418=) c.966A>G (p.Arg322=) c.1401A>G (p.Arg467=) c.1386A>G (p.Arg462=) | gnomAD v4 |
| 8 | g.71216735T>G | CA371466661 | EYA1 | c.1317A>C (p.Arg439Ser) c.1215A>C (p.Arg405Ser) c.1212A>C (p.Arg404Ser) c.*596A>C (n.*596A>C) c.707A>C n.1780A>C c.*994A>C (n.*994A>C) c.1404A>C (p.Arg468Ser) c.1299A>C (p.Arg433Ser) n.387A>C c.1296A>C (p.Arg432Ser) c.1218A>C (p.Arg406Ser) c.1314A>C (p.Arg438Ser) c.*262A>C (n.*262A>C) n.1812A>C c.951A>C (p.Arg317Ser) c.1389A>C (p.Arg463Ser) c.1302A>C (p.Arg434Ser) c.1254A>C (p.Arg418Ser) c.966A>C (p.Arg322Ser) c.1401A>C (p.Arg467Ser) c.1386A>C (p.Arg462Ser) | |
| 8 | g.71216735_71216736insAT | CA2505260523 | EYA1 | c.1317_1318insTA (p.Arg440TyrfsTer3) c.1215_1216insTA (p.Arg406TyrfsTer3) c.1212_1213insTA (p.Arg405TyrfsTer3) c.*596_*597insTA (n.*596_*597insTA) c.707_708insTA n.1780_1781insTA c.*994_*995insTA (n.*994_*995insTA) c.1404_1405insTA (p.Arg469TyrfsTer3) c.1299_1300insTA (p.Arg434TyrfsTer3) n.387_388insTA c.1296_1297insTA (p.Arg433TyrfsTer3) c.1218_1219insTA (p.Arg407TyrfsTer3) c.1314_1315insTA (p.Arg439TyrfsTer3) c.*262_*263insTA (n.*262_*263insTA) n.1812_1813insTA c.951_952insTA (p.Arg318TyrfsTer3) c.1389_1390insTA (p.Arg464TyrfsTer3) c.1302_1303insTA (p.Arg435TyrfsTer3) c.1254_1255insTA (p.Arg419TyrfsTer3) c.966_967insTA (p.Arg323TyrfsTer3) c.1401_1402insTA (p.Arg468TyrfsTer3) c.1386_1387insTA (p.Arg463TyrfsTer3) | |
| 8 | g.71216735_71216736insTGAAAAATGAATTTCTTGCGCTTCGCTCATTTTTCACGTGGATTGTAAATGTTTCAAGTGGATCTGAATACATATAAAGATAATCAAGAGGATACGTTTCCGGTATTTGTTCAA | CA2562781563 | EYA1 | c.1316_1317insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg439SerfsTer2) c.1214_1215insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg405SerfsTer2) c.1211_1212insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg404SerfsTer2) c.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*595_*596insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA) c.706_707insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA n.1779_1780insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA c.*993_*994insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*993_*994insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA) c.1403_1404insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg468SerfsTer2) c.1298_1299insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg433SerfsTer2) n.386_387insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA c.1295_1296insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg432SerfsTer2) c.1217_1218insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg406SerfsTer2) c.1313_1314insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg438SerfsTer2) c.*261_*262insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (n.*261_*262insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA) n.1811_1812insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA c.950_951insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg317SerfsTer2) c.1388_1389insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg463SerfsTer2) c.1301_1302insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg434SerfsTer2) c.1253_1254insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg418SerfsTer2) c.965_966insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg322SerfsTer2) c.1400_1401insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg467SerfsTer2) c.1385_1386insTTGAACAAATACCGGAAACGTATCCTCTTGATTATCTTTATATGTATTCAGATCCACTTGAAACATTTACAATCCACGTGAAAAATGAGCGAAGCGCAAGAAATTCATTTTTCA (p.Arg462SerfsTer2) | |
| 8 | g.71216736C>A | CA371466662 | EYA1 | c.1316G>T (p.Arg439Ile) c.1214G>T (p.Arg405Ile) c.1211G>T (p.Arg404Ile) c.*595G>T (n.*595G>T) c.706G>T n.1779G>T c.*993G>T (n.*993G>T) c.1403G>T (p.Arg468Ile) c.1298G>T (p.Arg433Ile) n.386G>T c.1295G>T (p.Arg432Ile) c.1217G>T (p.Arg406Ile) c.1313G>T (p.Arg438Ile) c.*261G>T (n.*261G>T) n.1811G>T c.950G>T (p.Arg317Ile) c.1388G>T (p.Arg463Ile) c.1301G>T (p.Arg434Ile) c.1253G>T (p.Arg418Ile) c.965G>T (p.Arg322Ile) c.1400G>T (p.Arg467Ile) c.1385G>T (p.Arg462Ile) | |
| 8 | g.71216736C>G | CA371466663 | EYA1 | c.1316G>C (p.Arg439Thr) c.1214G>C (p.Arg405Thr) c.1211G>C (p.Arg404Thr) c.*595G>C (n.*595G>C) c.706G>C n.1779G>C c.*993G>C (n.*993G>C) c.1403G>C (p.Arg468Thr) c.1298G>C (p.Arg433Thr) n.386G>C c.1295G>C (p.Arg432Thr) c.1217G>C (p.Arg406Thr) c.1313G>C (p.Arg438Thr) c.*261G>C (n.*261G>C) n.1811G>C c.950G>C (p.Arg317Thr) c.1388G>C (p.Arg463Thr) c.1301G>C (p.Arg434Thr) c.1253G>C (p.Arg418Thr) c.965G>C (p.Arg322Thr) c.1400G>C (p.Arg467Thr) c.1385G>C (p.Arg462Thr) | |
| 8 | g.71216736C>T | CA371466664 | EYA1 | c.1316G>A (p.Arg439Lys) c.1214G>A (p.Arg405Lys) c.1211G>A (p.Arg404Lys) c.*595G>A (n.*595G>A) c.706G>A n.1779G>A c.*993G>A (n.*993G>A) c.1403G>A (p.Arg468Lys) c.1298G>A (p.Arg433Lys) n.386G>A c.1295G>A (p.Arg432Lys) c.1217G>A (p.Arg406Lys) c.1313G>A (p.Arg438Lys) c.*261G>A (n.*261G>A) n.1811G>A c.950G>A (p.Arg317Lys) c.1388G>A (p.Arg463Lys) c.1301G>A (p.Arg434Lys) c.1253G>A (p.Arg418Lys) c.965G>A (p.Arg322Lys) c.1400G>A (p.Arg467Lys) c.1385G>A (p.Arg462Lys) | |
| 8 | g.71216737del | CA2573143309 | EYA1 | c.1315del (p.Arg439AspfsTer3) c.1213del (p.Arg405AspfsTer3) c.1210del (p.Arg404AspfsTer3) c.*594del (n.*594del) c.705del n.1778del c.*992del (n.*992del) c.1402del (p.Arg468AspfsTer3) c.1297del (p.Arg433AspfsTer3) n.385del c.1294del (p.Arg432AspfsTer3) c.1216del (p.Arg406AspfsTer3) c.1312del (p.Arg438AspfsTer3) c.*260del (n.*260del) n.1810del c.949del (p.Arg317AspfsTer3) c.1387del (p.Arg463AspfsTer3) c.1300del (p.Arg434AspfsTer3) c.1252del (p.Arg418AspfsTer3) c.964del (p.Arg322AspfsTer3) c.1399del (p.Arg467AspfsTer3) c.1384del (p.Arg462AspfsTer3) | ClinVar dbSNP |
| 8 | g.71216737T>A | CA371466665 | EYA1 | c.1315A>T (p.Arg439Ter) c.1213A>T (p.Arg405Ter) c.1210A>T (p.Arg404Ter) c.*594A>T (n.*594A>T) c.705A>T n.1778A>T c.*992A>T (n.*992A>T) c.1402A>T (p.Arg468Ter) c.1297A>T (p.Arg433Ter) n.385A>T c.1294A>T (p.Arg432Ter) c.1216A>T (p.Arg406Ter) c.1312A>T (p.Arg438Ter) c.*260A>T (n.*260A>T) n.1810A>T c.949A>T (p.Arg317Ter) c.1387A>T (p.Arg463Ter) c.1300A>T (p.Arg434Ter) c.1252A>T (p.Arg418Ter) c.964A>T (p.Arg322Ter) c.1399A>T (p.Arg467Ter) c.1384A>T (p.Arg462Ter) | gnomAD v3 gnomAD v4 |
| 8 | g.71216737T>C | CA371466666 | EYA1 | c.1315A>G (p.Arg439Gly) c.1213A>G (p.Arg405Gly) c.1210A>G (p.Arg404Gly) c.*594A>G (n.*594A>G) c.705A>G n.1778A>G c.*992A>G (n.*992A>G) c.1402A>G (p.Arg468Gly) c.1297A>G (p.Arg433Gly) n.385A>G c.1294A>G (p.Arg432Gly) c.1216A>G (p.Arg406Gly) c.1312A>G (p.Arg438Gly) c.*260A>G (n.*260A>G) n.1810A>G c.949A>G (p.Arg317Gly) c.1387A>G (p.Arg463Gly) c.1300A>G (p.Arg434Gly) c.1252A>G (p.Arg418Gly) c.964A>G (p.Arg322Gly) c.1399A>G (p.Arg467Gly) c.1384A>G (p.Arg462Gly) | |
| 8 | g.71216737T>G | CA461433905 | EYA1 | c.1315A>C (p.Arg439=) c.1213A>C (p.Arg405=) c.1210A>C (p.Arg404=) c.*594A>C (n.*594A>C) c.705A>C n.1778A>C c.*992A>C (n.*992A>C) c.1402A>C (p.Arg468=) c.1297A>C (p.Arg433=) n.385A>C c.1294A>C (p.Arg432=) c.1216A>C (p.Arg406=) c.1312A>C (p.Arg438=) c.*260A>C (n.*260A>C) n.1810A>C c.949A>C (p.Arg317=) c.1387A>C (p.Arg463=) c.1300A>C (p.Arg434=) c.1252A>C (p.Arg418=) c.964A>C (p.Arg322=) c.1399A>C (p.Arg467=) c.1384A>C (p.Arg462=) | |
| 8 | g.71216738G>A | CA461433906 | EYA1 | c.1314C>T (p.Tyr438=) c.1212C>T (p.Tyr404=) c.1209C>T (p.Tyr403=) c.*593C>T (n.*593C>T) c.704C>T n.1777C>T c.*991C>T (n.*991C>T) c.1401C>T (p.Tyr467=) c.1296C>T (p.Tyr432=) n.384C>T c.1293C>T (p.Tyr431=) c.1215C>T (p.Tyr405=) c.1311C>T (p.Tyr437=) c.*259C>T (n.*259C>T) n.1809C>T c.948C>T (p.Tyr316=) c.1386C>T (p.Tyr462=) c.1299C>T (p.Tyr433=) c.1251C>T (p.Tyr417=) c.963C>T (p.Tyr321=) c.1398C>T (p.Tyr466=) c.1383C>T (p.Tyr461=) | dbSNP gnomAD v4 |
| 8 | g.71216738G>C | CA371466667 | EYA1 | c.1314C>G (p.Tyr438Ter) c.1212C>G (p.Tyr404Ter) c.1209C>G (p.Tyr403Ter) c.*593C>G (n.*593C>G) c.704C>G n.1777C>G c.*991C>G (n.*991C>G) c.1401C>G (p.Tyr467Ter) c.1296C>G (p.Tyr432Ter) n.384C>G c.1293C>G (p.Tyr431Ter) c.1215C>G (p.Tyr405Ter) c.1311C>G (p.Tyr437Ter) c.*259C>G (n.*259C>G) n.1809C>G c.948C>G (p.Tyr316Ter) c.1386C>G (p.Tyr462Ter) c.1299C>G (p.Tyr433Ter) c.1251C>G (p.Tyr417Ter) c.963C>G (p.Tyr321Ter) c.1398C>G (p.Tyr466Ter) c.1383C>G (p.Tyr461Ter) | |
| 8 | g.71216738G= | CA1792692763 | EYA1 | c.1314C= (p.Tyr438=) c.1212C= (p.Tyr404=) c.1209C= (p.Tyr403=) c.*593C= (n.*593C=) c.704C= n.1777C= c.*991C= (n.*991C=) c.1401C= (p.Tyr467=) c.1296C= (p.Tyr432=) n.384C= c.1293C= (p.Tyr431=) c.1215C= (p.Tyr405=) c.1311C= (p.Tyr437=) c.*259C= (n.*259C=) n.1809C= c.948C= (p.Tyr316=) c.1386C= (p.Tyr462=) c.1299C= (p.Tyr433=) c.1251C= (p.Tyr417=) c.963C= (p.Tyr321=) c.1398C= (p.Tyr466=) c.1383C= (p.Tyr461=) | |
| 8 | g.71216738G>T | CA371466668 | EYA1 | c.1314C>A (p.Tyr438Ter) c.1212C>A (p.Tyr404Ter) c.1209C>A (p.Tyr403Ter) c.*593C>A (n.*593C>A) c.704C>A n.1777C>A c.*991C>A (n.*991C>A) c.1401C>A (p.Tyr467Ter) c.1296C>A (p.Tyr432Ter) n.384C>A c.1293C>A (p.Tyr431Ter) c.1215C>A (p.Tyr405Ter) c.1311C>A (p.Tyr437Ter) c.*259C>A (n.*259C>A) n.1809C>A c.948C>A (p.Tyr316Ter) c.1386C>A (p.Tyr462Ter) c.1299C>A (p.Tyr433Ter) c.1251C>A (p.Tyr417Ter) c.963C>A (p.Tyr321Ter) c.1398C>A (p.Tyr466Ter) c.1383C>A (p.Tyr461Ter) | gnomAD v3 gnomAD v4 |
| 8 | g.71216739T>A | CA371466669 | EYA1 | c.1313A>T (p.Tyr438Phe) c.1211A>T (p.Tyr404Phe) c.1208A>T (p.Tyr403Phe) c.*592A>T (n.*592A>T) c.703A>T n.1776A>T c.*990A>T (n.*990A>T) c.1400A>T (p.Tyr467Phe) c.1295A>T (p.Tyr432Phe) n.383A>T c.1292A>T (p.Tyr431Phe) c.1214A>T (p.Tyr405Phe) c.1310A>T (p.Tyr437Phe) c.*258A>T (n.*258A>T) n.1808A>T c.947A>T (p.Tyr316Phe) c.1385A>T (p.Tyr462Phe) c.1298A>T (p.Tyr433Phe) c.1250A>T (p.Tyr417Phe) c.962A>T (p.Tyr321Phe) c.1397A>T (p.Tyr466Phe) c.1382A>T (p.Tyr461Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216739T>C | CA371466670 | EYA1 | c.1313A>G (p.Tyr438Cys) c.1211A>G (p.Tyr404Cys) c.1208A>G (p.Tyr403Cys) c.*592A>G (n.*592A>G) c.703A>G n.1776A>G c.*990A>G (n.*990A>G) c.1400A>G (p.Tyr467Cys) c.1295A>G (p.Tyr432Cys) n.383A>G c.1292A>G (p.Tyr431Cys) c.1214A>G (p.Tyr405Cys) c.1310A>G (p.Tyr437Cys) c.*258A>G (n.*258A>G) n.1808A>G c.947A>G (p.Tyr316Cys) c.1385A>G (p.Tyr462Cys) c.1298A>G (p.Tyr433Cys) c.1250A>G (p.Tyr417Cys) c.962A>G (p.Tyr321Cys) c.1397A>G (p.Tyr466Cys) c.1382A>G (p.Tyr461Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216739T>G | CA371466671 | EYA1 | c.1313A>C (p.Tyr438Ser) c.1211A>C (p.Tyr404Ser) c.1208A>C (p.Tyr403Ser) c.*592A>C (n.*592A>C) c.703A>C n.1776A>C c.*990A>C (n.*990A>C) c.1400A>C (p.Tyr467Ser) c.1295A>C (p.Tyr432Ser) n.383A>C c.1292A>C (p.Tyr431Ser) c.1214A>C (p.Tyr405Ser) c.1310A>C (p.Tyr437Ser) c.*258A>C (n.*258A>C) n.1808A>C c.947A>C (p.Tyr316Ser) c.1385A>C (p.Tyr462Ser) c.1298A>C (p.Tyr433Ser) c.1250A>C (p.Tyr417Ser) c.962A>C (p.Tyr321Ser) c.1397A>C (p.Tyr466Ser) c.1382A>C (p.Tyr461Ser) | |
| 8 | g.71216739T= | CA1792692768 | EYA1 | c.1313A= (p.Tyr438=) c.1211A= (p.Tyr404=) c.1208A= (p.Tyr403=) c.*592A= (n.*592A=) c.703A= n.1776A= c.*990A= (n.*990A=) c.1400A= (p.Tyr467=) c.1295A= (p.Tyr432=) n.383A= c.1292A= (p.Tyr431=) c.1214A= (p.Tyr405=) c.1310A= (p.Tyr437=) c.*258A= (n.*258A=) n.1808A= c.947A= (p.Tyr316=) c.1385A= (p.Tyr462=) c.1298A= (p.Tyr433=) c.1250A= (p.Tyr417=) c.962A= (p.Tyr321=) c.1397A= (p.Tyr466=) c.1382A= (p.Tyr461=) | |
| 8 | g.71216740A>C | CA371466672 | EYA1 | c.1312T>G (p.Tyr438Asp) c.1210T>G (p.Tyr404Asp) c.1207T>G (p.Tyr403Asp) c.*591T>G (n.*591T>G) c.702T>G n.1775T>G c.*989T>G (n.*989T>G) c.1399T>G (p.Tyr467Asp) c.1294T>G (p.Tyr432Asp) n.382T>G c.1291T>G (p.Tyr431Asp) c.1213T>G (p.Tyr405Asp) c.1309T>G (p.Tyr437Asp) c.*257T>G (n.*257T>G) n.1807T>G c.946T>G (p.Tyr316Asp) c.1384T>G (p.Tyr462Asp) c.1297T>G (p.Tyr433Asp) c.1249T>G (p.Tyr417Asp) c.961T>G (p.Tyr321Asp) c.1396T>G (p.Tyr466Asp) c.1381T>G (p.Tyr461Asp) | |
| 8 | g.71216740A>G | CA371466674 | EYA1 | c.1312T>C (p.Tyr438His) c.1210T>C (p.Tyr404His) c.1207T>C (p.Tyr403His) c.*591T>C (n.*591T>C) c.702T>C n.1775T>C c.*989T>C (n.*989T>C) c.1399T>C (p.Tyr467His) c.1294T>C (p.Tyr432His) n.382T>C c.1291T>C (p.Tyr431His) c.1213T>C (p.Tyr405His) c.1309T>C (p.Tyr437His) c.*257T>C (n.*257T>C) n.1807T>C c.946T>C (p.Tyr316His) c.1384T>C (p.Tyr462His) c.1297T>C (p.Tyr433His) c.1249T>C (p.Tyr417His) c.961T>C (p.Tyr321His) c.1396T>C (p.Tyr466His) c.1381T>C (p.Tyr461His) | gnomAD v4 |
| 8 | g.71216740A>T | CA371466673 | EYA1 | c.1312T>A (p.Tyr438Asn) c.1210T>A (p.Tyr404Asn) c.1207T>A (p.Tyr403Asn) c.*591T>A (n.*591T>A) c.702T>A n.1775T>A c.*989T>A (n.*989T>A) c.1399T>A (p.Tyr467Asn) c.1294T>A (p.Tyr432Asn) n.382T>A c.1291T>A (p.Tyr431Asn) c.1213T>A (p.Tyr405Asn) c.1309T>A (p.Tyr437Asn) c.*257T>A (n.*257T>A) n.1807T>A c.946T>A (p.Tyr316Asn) c.1384T>A (p.Tyr462Asn) c.1297T>A (p.Tyr433Asn) c.1249T>A (p.Tyr417Asn) c.961T>A (p.Tyr321Asn) c.1396T>A (p.Tyr466Asn) c.1381T>A (p.Tyr461Asn) | |
| 8 | g.71216741G>A | CA461433915 | EYA1 | c.1311C>T (p.Arg437=) c.1209C>T (p.Arg403=) c.1206C>T (p.Arg402=) c.*590C>T (n.*590C>T) c.701C>T n.1774C>T c.*988C>T (n.*988C>T) c.1398C>T (p.Arg466=) c.1293C>T (p.Arg431=) n.381C>T c.1290C>T (p.Arg430=) c.1212C>T (p.Arg404=) c.1308C>T (p.Arg436=) c.*256C>T (n.*256C>T) n.1806C>T c.945C>T (p.Arg315=) c.1383C>T (p.Arg461=) c.1296C>T (p.Arg432=) c.1248C>T (p.Arg416=) c.960C>T (p.Arg320=) c.1395C>T (p.Arg465=) c.1380C>T (p.Arg460=) | COSMIC COSMIC |
| 8 | g.71216741G>C | CA461433916 | EYA1 | c.1311C>G (p.Arg437=) c.1209C>G (p.Arg403=) c.1206C>G (p.Arg402=) c.*590C>G (n.*590C>G) c.701C>G n.1774C>G c.*988C>G (n.*988C>G) c.1398C>G (p.Arg466=) c.1293C>G (p.Arg431=) n.381C>G c.1290C>G (p.Arg430=) c.1212C>G (p.Arg404=) c.1308C>G (p.Arg436=) c.*256C>G (n.*256C>G) n.1806C>G c.945C>G (p.Arg315=) c.1383C>G (p.Arg461=) c.1296C>G (p.Arg432=) c.1248C>G (p.Arg416=) c.960C>G (p.Arg320=) c.1395C>G (p.Arg465=) c.1380C>G (p.Arg460=) | |
| 8 | g.71216741G>T | CA461433918 | EYA1 | c.1311C>A (p.Arg437=) c.1209C>A (p.Arg403=) c.1206C>A (p.Arg402=) c.*590C>A (n.*590C>A) c.701C>A n.1774C>A c.*988C>A (n.*988C>A) c.1398C>A (p.Arg466=) c.1293C>A (p.Arg431=) n.381C>A c.1290C>A (p.Arg430=) c.1212C>A (p.Arg404=) c.1308C>A (p.Arg436=) c.*256C>A (n.*256C>A) n.1806C>A c.945C>A (p.Arg315=) c.1383C>A (p.Arg461=) c.1296C>A (p.Arg432=) c.1248C>A (p.Arg416=) c.960C>A (p.Arg320=) c.1395C>A (p.Arg465=) c.1380C>A (p.Arg460=) | |
| 8 | g.71216741_71216744del | CA1115150676 | EYA1 | c.1308_1311del (p.Arg437ThrfsTer4) c.1206_1209del (p.Arg403ThrfsTer4) c.1203_1206del (p.Arg402ThrfsTer4) c.*587_*590del (n.*587_*590del) c.698_701del n.1771_1774del c.*985_*988del (n.*985_*988del) c.1395_1398del (p.Arg466ThrfsTer4) c.1290_1293del (p.Arg431ThrfsTer4) n.378_381del c.1287_1290del (p.Arg430ThrfsTer4) c.1209_1212del (p.Arg404ThrfsTer4) c.1305_1308del (p.Arg436ThrfsTer4) c.*253_*256del (n.*253_*256del) n.1803_1806del c.942_945del (p.Arg315ThrfsTer4) c.1380_1383del (p.Arg461ThrfsTer4) c.1293_1296del (p.Arg432ThrfsTer4) c.1245_1248del (p.Arg416ThrfsTer4) c.957_960del (p.Arg320ThrfsTer4) c.1392_1395del (p.Arg465ThrfsTer4) c.1377_1380del (p.Arg460ThrfsTer4) | gnomAD v3 gnomAD v4 |
| 8 | g.71216742C>A | CA371466675 | EYA1 | c.1310G>T (p.Arg437Leu) c.1208G>T (p.Arg403Leu) c.1205G>T (p.Arg402Leu) c.*589G>T (n.*589G>T) c.700G>T n.1773G>T c.*987G>T (n.*987G>T) c.1397G>T (p.Arg466Leu) c.1292G>T (p.Arg431Leu) n.380G>T c.1289G>T (p.Arg430Leu) c.1211G>T (p.Arg404Leu) c.1307G>T (p.Arg436Leu) c.*255G>T (n.*255G>T) n.1805G>T c.944G>T (p.Arg315Leu) c.1382G>T (p.Arg461Leu) c.1295G>T (p.Arg432Leu) c.1247G>T (p.Arg416Leu) c.959G>T (p.Arg320Leu) c.1394G>T (p.Arg465Leu) c.1379G>T (p.Arg460Leu) | |
| 8 | g.71216742C= | CA1792692775 | EYA1 | c.1310G= (p.Arg437=) c.1208G= (p.Arg403=) c.1205G= (p.Arg402=) c.*589G= (n.*589G=) c.700G= n.1773G= c.*987G= (n.*987G=) c.1397G= (p.Arg466=) c.1292G= (p.Arg431=) n.380G= c.1289G= (p.Arg430=) c.1211G= (p.Arg404=) c.1307G= (p.Arg436=) c.*255G= (n.*255G=) n.1805G= c.944G= (p.Arg315=) c.1382G= (p.Arg461=) c.1295G= (p.Arg432=) c.1247G= (p.Arg416=) c.959G= (p.Arg320=) c.1394G= (p.Arg465=) c.1379G= (p.Arg460=) | |
| 8 | g.71216742C>G | CA371466676 | EYA1 | c.1310G>C (p.Arg437Pro) c.1208G>C (p.Arg403Pro) c.1205G>C (p.Arg402Pro) c.*589G>C (n.*589G>C) c.700G>C n.1773G>C c.*987G>C (n.*987G>C) c.1397G>C (p.Arg466Pro) c.1292G>C (p.Arg431Pro) n.380G>C c.1289G>C (p.Arg430Pro) c.1211G>C (p.Arg404Pro) c.1307G>C (p.Arg436Pro) c.*255G>C (n.*255G>C) n.1805G>C c.944G>C (p.Arg315Pro) c.1382G>C (p.Arg461Pro) c.1295G>C (p.Arg432Pro) c.1247G>C (p.Arg416Pro) c.959G>C (p.Arg320Pro) c.1394G>C (p.Arg465Pro) c.1379G>C (p.Arg460Pro) | COSMIC COSMIC |
| 8 | g.71216742C>T | CA4779504 | EYA1 | c.1310G>A (p.Arg437His) c.1208G>A (p.Arg403His) c.1205G>A (p.Arg402His) c.*589G>A (n.*589G>A) c.700G>A n.1773G>A c.*987G>A (n.*987G>A) c.1397G>A (p.Arg466His) c.1292G>A (p.Arg431His) n.380G>A c.1289G>A (p.Arg430His) c.1211G>A (p.Arg404His) c.1307G>A (p.Arg436His) c.*255G>A (n.*255G>A) n.1805G>A c.944G>A (p.Arg315His) c.1382G>A (p.Arg461His) c.1295G>A (p.Arg432His) c.1247G>A (p.Arg416His) c.959G>A (p.Arg320His) c.1394G>A (p.Arg465His) c.1379G>A (p.Arg460His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.71216742_71216743insAAGTTAAGACAGTCCAGATACAATTTCAAAAGTACT | CA2539036864 | EYA1 | c.1309_1310insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg437GlnfsTer4) c.1207_1208insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg403GlnfsTer4) c.1204_1205insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg402GlnfsTer4) c.*588_*589insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*588_*589insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT) c.699_700insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT n.1772_1773insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT c.*986_*987insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*986_*987insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT) c.1396_1397insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg466GlnfsTer4) c.1291_1292insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg431GlnfsTer4) n.379_380insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT c.1288_1289insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg430GlnfsTer4) c.1210_1211insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg404GlnfsTer4) c.1306_1307insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg436GlnfsTer4) c.*254_*255insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (n.*254_*255insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT) n.1804_1805insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT c.943_944insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg315GlnfsTer4) c.1381_1382insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg461GlnfsTer4) c.1294_1295insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg432GlnfsTer4) c.1246_1247insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg416GlnfsTer4) c.958_959insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg320GlnfsTer4) c.1393_1394insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg465GlnfsTer4) c.1378_1379insAGTACTTTTGAAATTGTATCTGGACTGTCTTAACTT (p.Arg460GlnfsTer4) | |
| 8 | g.71216743G>A | CA371466677 | EYA1 | c.1309C>T (p.Arg437Cys) c.1207C>T (p.Arg403Cys) c.1204C>T (p.Arg402Cys) c.*588C>T (n.*588C>T) c.699C>T n.1772C>T c.*986C>T (n.*986C>T) c.1396C>T (p.Arg466Cys) c.1291C>T (p.Arg431Cys) n.379C>T c.1288C>T (p.Arg430Cys) c.1210C>T (p.Arg404Cys) c.1306C>T (p.Arg436Cys) c.*254C>T (n.*254C>T) n.1804C>T c.943C>T (p.Arg315Cys) c.1381C>T (p.Arg461Cys) c.1294C>T (p.Arg432Cys) c.1246C>T (p.Arg416Cys) c.958C>T (p.Arg320Cys) c.1393C>T (p.Arg465Cys) c.1378C>T (p.Arg460Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.71216743G>C | CA371466678 | EYA1 | c.1309C>G (p.Arg437Gly) c.1207C>G (p.Arg403Gly) c.1204C>G (p.Arg402Gly) c.*588C>G (n.*588C>G) c.699C>G n.1772C>G c.*986C>G (n.*986C>G) c.1396C>G (p.Arg466Gly) c.1291C>G (p.Arg431Gly) n.379C>G c.1288C>G (p.Arg430Gly) c.1210C>G (p.Arg404Gly) c.1306C>G (p.Arg436Gly) c.*254C>G (n.*254C>G) n.1804C>G c.943C>G (p.Arg315Gly) c.1381C>G (p.Arg461Gly) c.1294C>G (p.Arg432Gly) c.1246C>G (p.Arg416Gly) c.958C>G (p.Arg320Gly) c.1393C>G (p.Arg465Gly) c.1378C>G (p.Arg460Gly) | gnomAD v3 gnomAD v4 |
| 8 | g.71216743G= | CA1792692778 | EYA1 | c.1309C= (p.Arg437=) c.1207C= (p.Arg403=) c.1204C= (p.Arg402=) c.*588C= (n.*588C=) c.699C= n.1772C= c.*986C= (n.*986C=) c.1396C= (p.Arg466=) c.1291C= (p.Arg431=) n.379C= c.1288C= (p.Arg430=) c.1210C= (p.Arg404=) c.1306C= (p.Arg436=) c.*254C= (n.*254C=) n.1804C= c.943C= (p.Arg315=) c.1381C= (p.Arg461=) c.1294C= (p.Arg432=) c.1246C= (p.Arg416=) c.958C= (p.Arg320=) c.1393C= (p.Arg465=) c.1378C= (p.Arg460=) | |
| 8 | g.71216743G>T | CA371466679 | EYA1 | c.1309C>A (p.Arg437Ser) c.1207C>A (p.Arg403Ser) c.1204C>A (p.Arg402Ser) c.*588C>A (n.*588C>A) c.699C>A n.1772C>A c.*986C>A (n.*986C>A) c.1396C>A (p.Arg466Ser) c.1291C>A (p.Arg431Ser) n.379C>A c.1288C>A (p.Arg430Ser) c.1210C>A (p.Arg404Ser) c.1306C>A (p.Arg436Ser) c.*254C>A (n.*254C>A) n.1804C>A c.943C>A (p.Arg315Ser) c.1381C>A (p.Arg461Ser) c.1294C>A (p.Arg432Ser) c.1246C>A (p.Arg416Ser) c.958C>A (p.Arg320Ser) c.1393C>A (p.Arg465Ser) c.1378C>A (p.Arg460Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71216744G>A | CA461433923 | EYA1 | c.1308C>T (p.Phe436=) c.1206C>T (p.Phe402=) c.1203C>T (p.Phe401=) c.*587C>T (n.*587C>T) c.698C>T n.1771C>T c.*985C>T (n.*985C>T) c.1395C>T (p.Phe465=) c.1290C>T (p.Phe430=) n.378C>T c.1287C>T (p.Phe429=) c.1209C>T (p.Phe403=) c.1305C>T (p.Phe435=) c.*253C>T (n.*253C>T) n.1803C>T c.942C>T (p.Phe314=) c.1380C>T (p.Phe460=) c.1293C>T (p.Phe431=) c.1245C>T (p.Phe415=) c.957C>T (p.Phe319=) c.1392C>T (p.Phe464=) c.1377C>T (p.Phe459=) | COSMIC COSMIC |
| 8 | g.71216744G>C | CA371466680 | EYA1 | c.1308C>G (p.Phe436Leu) c.1206C>G (p.Phe402Leu) c.1203C>G (p.Phe401Leu) c.*587C>G (n.*587C>G) c.698C>G n.1771C>G c.*985C>G (n.*985C>G) c.1395C>G (p.Phe465Leu) c.1290C>G (p.Phe430Leu) n.378C>G c.1287C>G (p.Phe429Leu) c.1209C>G (p.Phe403Leu) c.1305C>G (p.Phe435Leu) c.*253C>G (n.*253C>G) n.1803C>G c.942C>G (p.Phe314Leu) c.1380C>G (p.Phe460Leu) c.1293C>G (p.Phe431Leu) c.1245C>G (p.Phe415Leu) c.957C>G (p.Phe319Leu) c.1392C>G (p.Phe464Leu) c.1377C>G (p.Phe459Leu) | |
| 8 | g.71216744G>T | CA371466681 | EYA1 | c.1308C>A (p.Phe436Leu) c.1206C>A (p.Phe402Leu) c.1203C>A (p.Phe401Leu) c.*587C>A (n.*587C>A) c.698C>A n.1771C>A c.*985C>A (n.*985C>A) c.1395C>A (p.Phe465Leu) c.1290C>A (p.Phe430Leu) n.378C>A c.1287C>A (p.Phe429Leu) c.1209C>A (p.Phe403Leu) c.1305C>A (p.Phe435Leu) c.*253C>A (n.*253C>A) n.1803C>A c.942C>A (p.Phe314Leu) c.1380C>A (p.Phe460Leu) c.1293C>A (p.Phe431Leu) c.1245C>A (p.Phe415Leu) c.957C>A (p.Phe319Leu) c.1392C>A (p.Phe464Leu) c.1377C>A (p.Phe459Leu) | |
| 8 | g.71216745A>C | CA371466682 | EYA1 | c.1307T>G (p.Phe436Cys) c.1205T>G (p.Phe402Cys) c.1202T>G (p.Phe401Cys) c.*586T>G (n.*586T>G) c.697T>G n.1770T>G c.*984T>G (n.*984T>G) c.1394T>G (p.Phe465Cys) c.1289T>G (p.Phe430Cys) n.377T>G c.1286T>G (p.Phe429Cys) c.1208T>G (p.Phe403Cys) c.1304T>G (p.Phe435Cys) c.*252T>G (n.*252T>G) n.1802T>G c.941T>G (p.Phe314Cys) c.1379T>G (p.Phe460Cys) c.1292T>G (p.Phe431Cys) c.1244T>G (p.Phe415Cys) c.956T>G (p.Phe319Cys) c.1391T>G (p.Phe464Cys) c.1376T>G (p.Phe459Cys) |