UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 8 | g.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) | |
| 8 | g.71216745A>G | CA371466683 | EYA1 | c.1307T>C (p.Phe436Ser) c.1205T>C (p.Phe402Ser) c.1202T>C (p.Phe401Ser) c.*586T>C (n.*586T>C) c.697T>C n.1770T>C c.*984T>C (n.*984T>C) c.1394T>C (p.Phe465Ser) c.1289T>C (p.Phe430Ser) n.377T>C c.1286T>C (p.Phe429Ser) c.1208T>C (p.Phe403Ser) c.1304T>C (p.Phe435Ser) c.*252T>C (n.*252T>C) n.1802T>C c.941T>C (p.Phe314Ser) c.1379T>C (p.Phe460Ser) c.1292T>C (p.Phe431Ser) c.1244T>C (p.Phe415Ser) c.956T>C (p.Phe319Ser) c.1391T>C (p.Phe464Ser) c.1376T>C (p.Phe459Ser) | COSMIC COSMIC |
| 8 | g.71216745A>T | CA371466684 | EYA1 | c.1307T>A (p.Phe436Tyr) c.1205T>A (p.Phe402Tyr) c.1202T>A (p.Phe401Tyr) c.*586T>A (n.*586T>A) c.697T>A n.1770T>A c.*984T>A (n.*984T>A) c.1394T>A (p.Phe465Tyr) c.1289T>A (p.Phe430Tyr) n.377T>A c.1286T>A (p.Phe429Tyr) c.1208T>A (p.Phe403Tyr) c.1304T>A (p.Phe435Tyr) c.*252T>A (n.*252T>A) n.1802T>A c.941T>A (p.Phe314Tyr) c.1379T>A (p.Phe460Tyr) c.1292T>A (p.Phe431Tyr) c.1244T>A (p.Phe415Tyr) c.956T>A (p.Phe319Tyr) c.1391T>A (p.Phe464Tyr) c.1376T>A (p.Phe459Tyr) | |
| 8 | g.71216746A>C | CA371466685 | EYA1 | c.1306T>G (p.Phe436Val) c.1204T>G (p.Phe402Val) c.1201T>G (p.Phe401Val) c.*585T>G (n.*585T>G) c.696T>G n.1769T>G c.*983T>G (n.*983T>G) c.1393T>G (p.Phe465Val) c.1288T>G (p.Phe430Val) n.376T>G c.1285T>G (p.Phe429Val) c.1207T>G (p.Phe403Val) c.1303T>G (p.Phe435Val) c.*251T>G (n.*251T>G) n.1801T>G c.940T>G (p.Phe314Val) c.1378T>G (p.Phe460Val) c.1291T>G (p.Phe431Val) c.1243T>G (p.Phe415Val) c.955T>G (p.Phe319Val) c.1390T>G (p.Phe464Val) c.1375T>G (p.Phe459Val) | |
| 8 | g.71216746A>G | CA371466687 | EYA1 | c.1306T>C (p.Phe436Leu) c.1204T>C (p.Phe402Leu) c.1201T>C (p.Phe401Leu) c.*585T>C (n.*585T>C) c.696T>C n.1769T>C c.*983T>C (n.*983T>C) c.1393T>C (p.Phe465Leu) c.1288T>C (p.Phe430Leu) n.376T>C c.1285T>C (p.Phe429Leu) c.1207T>C (p.Phe403Leu) c.1303T>C (p.Phe435Leu) c.*251T>C (n.*251T>C) n.1801T>C c.940T>C (p.Phe314Leu) c.1378T>C (p.Phe460Leu) c.1291T>C (p.Phe431Leu) c.1243T>C (p.Phe415Leu) c.955T>C (p.Phe319Leu) c.1390T>C (p.Phe464Leu) c.1375T>C (p.Phe459Leu) | |
| 8 | g.71216746A>T | CA371466686 | EYA1 | c.1306T>A (p.Phe436Ile) c.1204T>A (p.Phe402Ile) c.1201T>A (p.Phe401Ile) c.*585T>A (n.*585T>A) c.696T>A n.1769T>A c.*983T>A (n.*983T>A) c.1393T>A (p.Phe465Ile) c.1288T>A (p.Phe430Ile) n.376T>A c.1285T>A (p.Phe429Ile) c.1207T>A (p.Phe403Ile) c.1303T>A (p.Phe435Ile) c.*251T>A (n.*251T>A) n.1801T>A c.940T>A (p.Phe314Ile) c.1378T>A (p.Phe460Ile) c.1291T>A (p.Phe431Ile) c.1243T>A (p.Phe415Ile) c.955T>A (p.Phe319Ile) c.1390T>A (p.Phe464Ile) c.1375T>A (p.Phe459Ile) | |
| 8 | g.71216747G>A | CA461433930 | EYA1 | c.1305C>T (p.Ala435=) c.1203C>T (p.Ala401=) c.1200C>T (p.Ala400=) c.*584C>T (n.*584C>T) c.695C>T n.1768C>T c.*982C>T (n.*982C>T) c.1392C>T (p.Ala464=) c.1287C>T (p.Ala429=) n.375C>T c.1284C>T (p.Ala428=) c.1206C>T (p.Ala402=) c.1302C>T (p.Ala434=) c.*250C>T (n.*250C>T) n.1800C>T c.939C>T (p.Ala313=) c.1377C>T (p.Ala459=) c.1290C>T (p.Ala430=) c.1242C>T (p.Ala414=) c.954C>T (p.Ala318=) c.1389C>T (p.Ala463=) c.1374C>T (p.Ala458=) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216747G>C | CA461433932 | EYA1 | c.1305C>G (p.Ala435=) c.1203C>G (p.Ala401=) c.1200C>G (p.Ala400=) c.*584C>G (n.*584C>G) c.695C>G n.1768C>G c.*982C>G (n.*982C>G) c.1392C>G (p.Ala464=) c.1287C>G (p.Ala429=) n.375C>G c.1284C>G (p.Ala428=) c.1206C>G (p.Ala402=) c.1302C>G (p.Ala434=) c.*250C>G (n.*250C>G) n.1800C>G c.939C>G (p.Ala313=) c.1377C>G (p.Ala459=) c.1290C>G (p.Ala430=) c.1242C>G (p.Ala414=) c.954C>G (p.Ala318=) c.1389C>G (p.Ala463=) c.1374C>G (p.Ala458=) | |
| 8 | g.71216747G= | CA1792692781 | EYA1 | c.1305C= (p.Ala435=) c.1203C= (p.Ala401=) c.1200C= (p.Ala400=) c.*584C= (n.*584C=) c.695C= n.1768C= c.*982C= (n.*982C=) c.1392C= (p.Ala464=) c.1287C= (p.Ala429=) n.375C= c.1284C= (p.Ala428=) c.1206C= (p.Ala402=) c.1302C= (p.Ala434=) c.*250C= (n.*250C=) n.1800C= c.939C= (p.Ala313=) c.1377C= (p.Ala459=) c.1290C= (p.Ala430=) c.1242C= (p.Ala414=) c.954C= (p.Ala318=) c.1389C= (p.Ala463=) c.1374C= (p.Ala458=) | |
| 8 | g.71216747G>T | CA461433933 | EYA1 | c.1305C>A (p.Ala435=) c.1203C>A (p.Ala401=) c.1200C>A (p.Ala400=) c.*584C>A (n.*584C>A) c.695C>A n.1768C>A c.*982C>A (n.*982C>A) c.1392C>A (p.Ala464=) c.1287C>A (p.Ala429=) n.375C>A c.1284C>A (p.Ala428=) c.1206C>A (p.Ala402=) c.1302C>A (p.Ala434=) c.*250C>A (n.*250C>A) n.1800C>A c.939C>A (p.Ala313=) c.1377C>A (p.Ala459=) c.1290C>A (p.Ala430=) c.1242C>A (p.Ala414=) c.954C>A (p.Ala318=) c.1389C>A (p.Ala463=) c.1374C>A (p.Ala458=) | |
| 8 | g.71216748G>A | CA371466688 | EYA1 | c.1304C>T (p.Ala435Val) c.1202C>T (p.Ala401Val) c.1199C>T (p.Ala400Val) c.*583C>T (n.*583C>T) c.694C>T n.1767C>T c.*981C>T (n.*981C>T) c.1391C>T (p.Ala464Val) c.1286C>T (p.Ala429Val) n.374C>T c.1283C>T (p.Ala428Val) c.1205C>T (p.Ala402Val) c.1301C>T (p.Ala434Val) c.*249C>T (n.*249C>T) n.1799C>T c.938C>T (p.Ala313Val) c.1376C>T (p.Ala459Val) c.1289C>T (p.Ala430Val) c.1241C>T (p.Ala414Val) c.953C>T (p.Ala318Val) c.1388C>T (p.Ala463Val) c.1373C>T (p.Ala458Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216748G>C | CA371466689 | EYA1 | c.1304C>G (p.Ala435Gly) c.1202C>G (p.Ala401Gly) c.1199C>G (p.Ala400Gly) c.*583C>G (n.*583C>G) c.694C>G n.1767C>G c.*981C>G (n.*981C>G) c.1391C>G (p.Ala464Gly) c.1286C>G (p.Ala429Gly) n.374C>G c.1283C>G (p.Ala428Gly) c.1205C>G (p.Ala402Gly) c.1301C>G (p.Ala434Gly) c.*249C>G (n.*249C>G) n.1799C>G c.938C>G (p.Ala313Gly) c.1376C>G (p.Ala459Gly) c.1289C>G (p.Ala430Gly) c.1241C>G (p.Ala414Gly) c.953C>G (p.Ala318Gly) c.1388C>G (p.Ala463Gly) c.1373C>G (p.Ala458Gly) | |
| 8 | g.71216748G>T | CA371466690 | EYA1 | c.1304C>A (p.Ala435Asp) c.1202C>A (p.Ala401Asp) c.1199C>A (p.Ala400Asp) c.*583C>A (n.*583C>A) c.694C>A n.1767C>A c.*981C>A (n.*981C>A) c.1391C>A (p.Ala464Asp) c.1286C>A (p.Ala429Asp) n.374C>A c.1283C>A (p.Ala428Asp) c.1205C>A (p.Ala402Asp) c.1301C>A (p.Ala434Asp) c.*249C>A (n.*249C>A) n.1799C>A c.938C>A (p.Ala313Asp) c.1376C>A (p.Ala459Asp) c.1289C>A (p.Ala430Asp) c.1241C>A (p.Ala414Asp) c.953C>A (p.Ala318Asp) c.1388C>A (p.Ala463Asp) c.1373C>A (p.Ala458Asp) | |
| 8 | g.71216749C>A | CA371466691 | EYA1 | c.1303G>T (p.Ala435Ser) c.1201G>T (p.Ala401Ser) c.1198G>T (p.Ala400Ser) c.*582G>T (n.*582G>T) c.693G>T n.1766G>T c.*980G>T (n.*980G>T) c.1390G>T (p.Ala464Ser) c.1285G>T (p.Ala429Ser) n.373G>T c.1282G>T (p.Ala428Ser) c.1204G>T (p.Ala402Ser) c.1300G>T (p.Ala434Ser) c.*248G>T (n.*248G>T) n.1798G>T c.937G>T (p.Ala313Ser) c.1375G>T (p.Ala459Ser) c.1288G>T (p.Ala430Ser) c.1240G>T (p.Ala414Ser) c.952G>T (p.Ala318Ser) c.1387G>T (p.Ala463Ser) c.1372G>T (p.Ala458Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216749C= | CA1792692784 | EYA1 | c.1303G= (p.Ala435=) c.1201G= (p.Ala401=) c.1198G= (p.Ala400=) c.*582G= (n.*582G=) c.693G= n.1766G= c.*980G= (n.*980G=) c.1390G= (p.Ala464=) c.1285G= (p.Ala429=) n.373G= c.1282G= (p.Ala428=) c.1204G= (p.Ala402=) c.1300G= (p.Ala434=) c.*248G= (n.*248G=) n.1798G= c.937G= (p.Ala313=) c.1375G= (p.Ala459=) c.1288G= (p.Ala430=) c.1240G= (p.Ala414=) c.952G= (p.Ala318=) c.1387G= (p.Ala463=) c.1372G= (p.Ala458=) | |
| 8 | g.71216749C>G | CA371466692 | EYA1 | c.1303G>C (p.Ala435Pro) c.1201G>C (p.Ala401Pro) c.1198G>C (p.Ala400Pro) c.*582G>C (n.*582G>C) c.693G>C n.1766G>C c.*980G>C (n.*980G>C) c.1390G>C (p.Ala464Pro) c.1285G>C (p.Ala429Pro) n.373G>C c.1282G>C (p.Ala428Pro) c.1204G>C (p.Ala402Pro) c.1300G>C (p.Ala434Pro) c.*248G>C (n.*248G>C) n.1798G>C c.937G>C (p.Ala313Pro) c.1375G>C (p.Ala459Pro) c.1288G>C (p.Ala430Pro) c.1240G>C (p.Ala414Pro) c.952G>C (p.Ala318Pro) c.1387G>C (p.Ala463Pro) c.1372G>C (p.Ala458Pro) | |
| 8 | g.71216749C>T | CA179210053 | EYA1 | c.1303G>A (p.Ala435Thr) c.1201G>A (p.Ala401Thr) c.1198G>A (p.Ala400Thr) c.*582G>A (n.*582G>A) c.693G>A n.1766G>A c.*980G>A (n.*980G>A) c.1390G>A (p.Ala464Thr) c.1285G>A (p.Ala429Thr) n.373G>A c.1282G>A (p.Ala428Thr) c.1204G>A (p.Ala402Thr) c.1300G>A (p.Ala434Thr) c.*248G>A (n.*248G>A) n.1798G>A c.937G>A (p.Ala313Thr) c.1375G>A (p.Ala459Thr) c.1288G>A (p.Ala430Thr) c.1240G>A (p.Ala414Thr) c.952G>A (p.Ala318Thr) c.1387G>A (p.Ala463Thr) c.1372G>A (p.Ala458Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216750C>A | CA371466693 | EYA1 | c.1302G>T (p.Leu434Phe) c.1200G>T (p.Leu400Phe) c.1197G>T (p.Leu399Phe) c.*581G>T (n.*581G>T) c.692G>T n.1765G>T c.*979G>T (n.*979G>T) c.1389G>T (p.Leu463Phe) c.1284G>T (p.Leu428Phe) n.372G>T c.1281G>T (p.Leu427Phe) c.1203G>T (p.Leu401Phe) c.1299G>T (p.Leu433Phe) c.*247G>T (n.*247G>T) n.1797G>T c.936G>T (p.Leu312Phe) c.1374G>T (p.Leu458Phe) c.1287G>T (p.Leu429Phe) c.1239G>T (p.Leu413Phe) c.951G>T (p.Leu317Phe) c.1386G>T (p.Leu462Phe) c.1371G>T (p.Leu457Phe) | |
| 8 | g.71216750C>G | CA371466694 | EYA1 | c.1302G>C (p.Leu434Phe) c.1200G>C (p.Leu400Phe) c.1197G>C (p.Leu399Phe) c.*581G>C (n.*581G>C) c.692G>C n.1765G>C c.*979G>C (n.*979G>C) c.1389G>C (p.Leu463Phe) c.1284G>C (p.Leu428Phe) n.372G>C c.1281G>C (p.Leu427Phe) c.1203G>C (p.Leu401Phe) c.1299G>C (p.Leu433Phe) c.*247G>C (n.*247G>C) n.1797G>C c.936G>C (p.Leu312Phe) c.1374G>C (p.Leu458Phe) c.1287G>C (p.Leu429Phe) c.1239G>C (p.Leu413Phe) c.951G>C (p.Leu317Phe) c.1386G>C (p.Leu462Phe) c.1371G>C (p.Leu457Phe) | |
| 8 | g.71216750C>T | CA461433940 | EYA1 | c.1302G>A (p.Leu434=) c.1200G>A (p.Leu400=) c.1197G>A (p.Leu399=) c.*581G>A (n.*581G>A) c.692G>A n.1765G>A c.*979G>A (n.*979G>A) c.1389G>A (p.Leu463=) c.1284G>A (p.Leu428=) n.372G>A c.1281G>A (p.Leu427=) c.1203G>A (p.Leu401=) c.1299G>A (p.Leu433=) c.*247G>A (n.*247G>A) n.1797G>A c.936G>A (p.Leu312=) c.1374G>A (p.Leu458=) c.1287G>A (p.Leu429=) c.1239G>A (p.Leu413=) c.951G>A (p.Leu317=) c.1386G>A (p.Leu462=) c.1371G>A (p.Leu457=) | |
| 8 | g.71216751A>C | CA371466695 | EYA1 | c.1301T>G (p.Leu434Trp) c.1199T>G (p.Leu400Trp) c.1196T>G (p.Leu399Trp) c.*580T>G (n.*580T>G) c.691T>G n.1764T>G c.*978T>G (n.*978T>G) c.1388T>G (p.Leu463Trp) c.1283T>G (p.Leu428Trp) n.371T>G c.1280T>G (p.Leu427Trp) c.1202T>G (p.Leu401Trp) c.1298T>G (p.Leu433Trp) c.*246T>G (n.*246T>G) n.1796T>G c.935T>G (p.Leu312Trp) c.1373T>G (p.Leu458Trp) c.1286T>G (p.Leu429Trp) c.1238T>G (p.Leu413Trp) c.950T>G (p.Leu317Trp) c.1385T>G (p.Leu462Trp) c.1370T>G (p.Leu457Trp) | |
| 8 | g.71216751A>G | CA371466696 | EYA1 | c.1301T>C (p.Leu434Ser) c.1199T>C (p.Leu400Ser) c.1196T>C (p.Leu399Ser) c.*580T>C (n.*580T>C) c.691T>C n.1764T>C c.*978T>C (n.*978T>C) c.1388T>C (p.Leu463Ser) c.1283T>C (p.Leu428Ser) n.371T>C c.1280T>C (p.Leu427Ser) c.1202T>C (p.Leu401Ser) c.1298T>C (p.Leu433Ser) c.*246T>C (n.*246T>C) n.1796T>C c.935T>C (p.Leu312Ser) c.1373T>C (p.Leu458Ser) c.1286T>C (p.Leu429Ser) c.1238T>C (p.Leu413Ser) c.950T>C (p.Leu317Ser) c.1385T>C (p.Leu462Ser) c.1370T>C (p.Leu457Ser) | |
| 8 | g.71216751A>T | CA371466697 | EYA1 | c.1301T>A (p.Leu434Ter) c.1199T>A (p.Leu400Ter) c.1196T>A (p.Leu399Ter) c.*580T>A (n.*580T>A) c.691T>A n.1764T>A c.*978T>A (n.*978T>A) c.1388T>A (p.Leu463Ter) c.1283T>A (p.Leu428Ter) n.371T>A c.1280T>A (p.Leu427Ter) c.1202T>A (p.Leu401Ter) c.1298T>A (p.Leu433Ter) c.*246T>A (n.*246T>A) n.1796T>A c.935T>A (p.Leu312Ter) c.1373T>A (p.Leu458Ter) c.1286T>A (p.Leu429Ter) c.1238T>A (p.Leu413Ter) c.950T>A (p.Leu317Ter) c.1385T>A (p.Leu462Ter) c.1370T>A (p.Leu457Ter) | |
| 8 | g.71216752A>C | CA371466698 | EYA1 | c.1300T>G (p.Leu434Val) c.1198T>G (p.Leu400Val) c.1195T>G (p.Leu399Val) c.*579T>G (n.*579T>G) c.690T>G n.1763T>G c.*977T>G (n.*977T>G) c.1387T>G (p.Leu463Val) c.1282T>G (p.Leu428Val) n.370T>G c.1279T>G (p.Leu427Val) c.1201T>G (p.Leu401Val) c.1297T>G (p.Leu433Val) c.*245T>G (n.*245T>G) n.1795T>G c.934T>G (p.Leu312Val) c.1372T>G (p.Leu458Val) c.1285T>G (p.Leu429Val) c.1237T>G (p.Leu413Val) c.949T>G (p.Leu317Val) c.1384T>G (p.Leu462Val) c.1369T>G (p.Leu457Val) | |
| 8 | g.71216752A>G | CA461433947 | EYA1 | c.1300T>C (p.Leu434=) c.1198T>C (p.Leu400=) c.1195T>C (p.Leu399=) c.*579T>C (n.*579T>C) c.690T>C n.1763T>C c.*977T>C (n.*977T>C) c.1387T>C (p.Leu463=) c.1282T>C (p.Leu428=) n.370T>C c.1279T>C (p.Leu427=) c.1201T>C (p.Leu401=) c.1297T>C (p.Leu433=) c.*245T>C (n.*245T>C) n.1795T>C c.934T>C (p.Leu312=) c.1372T>C (p.Leu458=) c.1285T>C (p.Leu429=) c.1237T>C (p.Leu413=) c.949T>C (p.Leu317=) c.1384T>C (p.Leu462=) c.1369T>C (p.Leu457=) | gnomAD v4 COSMIC COSMIC |
| 8 | g.71216752A>T | CA371466699 | EYA1 | c.1300T>A (p.Leu434Met) c.1198T>A (p.Leu400Met) c.1195T>A (p.Leu399Met) c.*579T>A (n.*579T>A) c.690T>A n.1763T>A c.*977T>A (n.*977T>A) c.1387T>A (p.Leu463Met) c.1282T>A (p.Leu428Met) n.370T>A c.1279T>A (p.Leu427Met) c.1201T>A (p.Leu401Met) c.1297T>A (p.Leu433Met) c.*245T>A (n.*245T>A) n.1795T>A c.934T>A (p.Leu312Met) c.1372T>A (p.Leu458Met) c.1285T>A (p.Leu429Met) c.1237T>A (p.Leu413Met) c.949T>A (p.Leu317Met) c.1384T>A (p.Leu462Met) c.1369T>A (p.Leu457Met) | |
| 8 | g.71216753C>A | CA371466700 | EYA1 | c.1299G>T (p.Lys433Asn) c.1197G>T (p.Lys399Asn) c.1194G>T (p.Lys398Asn) c.*578G>T (n.*578G>T) c.689G>T n.1762G>T c.*976G>T (n.*976G>T) c.1386G>T (p.Lys462Asn) c.1281G>T (p.Lys427Asn) n.369G>T c.1278G>T (p.Lys426Asn) c.1200G>T (p.Lys400Asn) c.1296G>T (p.Lys432Asn) c.*244G>T (n.*244G>T) n.1794G>T c.933G>T (p.Lys311Asn) c.1371G>T (p.Lys457Asn) c.1284G>T (p.Lys428Asn) c.1236G>T (p.Lys412Asn) c.948G>T (p.Lys316Asn) c.1383G>T (p.Lys461Asn) c.1368G>T (p.Lys456Asn) | gnomAD v4 |
| 8 | g.71216753C>G | CA371466701 | EYA1 | c.1299G>C (p.Lys433Asn) c.1197G>C (p.Lys399Asn) c.1194G>C (p.Lys398Asn) c.*578G>C (n.*578G>C) c.689G>C n.1762G>C c.*976G>C (n.*976G>C) c.1386G>C (p.Lys462Asn) c.1281G>C (p.Lys427Asn) n.369G>C c.1278G>C (p.Lys426Asn) c.1200G>C (p.Lys400Asn) c.1296G>C (p.Lys432Asn) c.*244G>C (n.*244G>C) n.1794G>C c.933G>C (p.Lys311Asn) c.1371G>C (p.Lys457Asn) c.1284G>C (p.Lys428Asn) c.1236G>C (p.Lys412Asn) c.948G>C (p.Lys316Asn) c.1383G>C (p.Lys461Asn) c.1368G>C (p.Lys456Asn) | |
| 8 | g.71216753C>T | CA461433950 | EYA1 | c.1299G>A (p.Lys433=) c.1197G>A (p.Lys399=) c.1194G>A (p.Lys398=) c.*578G>A (n.*578G>A) c.689G>A n.1762G>A c.*976G>A (n.*976G>A) c.1386G>A (p.Lys462=) c.1281G>A (p.Lys427=) n.369G>A c.1278G>A (p.Lys426=) c.1200G>A (p.Lys400=) c.1296G>A (p.Lys432=) c.*244G>A (n.*244G>A) n.1794G>A c.933G>A (p.Lys311=) c.1371G>A (p.Lys457=) c.1284G>A (p.Lys428=) c.1236G>A (p.Lys412=) c.948G>A (p.Lys316=) c.1383G>A (p.Lys461=) c.1368G>A (p.Lys456=) | |
| 8 | g.71216754T>A | CA371466702 | EYA1 | c.1298A>T (p.Lys433Met) c.1196A>T (p.Lys399Met) c.1193A>T (p.Lys398Met) c.*577A>T (n.*577A>T) c.688A>T n.1761A>T c.*975A>T (n.*975A>T) c.1385A>T (p.Lys462Met) c.1280A>T (p.Lys427Met) n.368A>T c.1277A>T (p.Lys426Met) c.1199A>T (p.Lys400Met) c.1295A>T (p.Lys432Met) c.*243A>T (n.*243A>T) n.1793A>T c.932A>T (p.Lys311Met) c.1370A>T (p.Lys457Met) c.1283A>T (p.Lys428Met) c.1235A>T (p.Lys412Met) c.947A>T (p.Lys316Met) c.1382A>T (p.Lys461Met) c.1367A>T (p.Lys456Met) | |
| 8 | g.71216754T>C | CA4779505 | EYA1 | c.1298A>G (p.Lys433Arg) c.1196A>G (p.Lys399Arg) c.1193A>G (p.Lys398Arg) c.*577A>G (n.*577A>G) c.688A>G n.1761A>G c.*975A>G (n.*975A>G) c.1385A>G (p.Lys462Arg) c.1280A>G (p.Lys427Arg) n.368A>G c.1277A>G (p.Lys426Arg) c.1199A>G (p.Lys400Arg) c.1295A>G (p.Lys432Arg) c.*243A>G (n.*243A>G) n.1793A>G c.932A>G (p.Lys311Arg) c.1370A>G (p.Lys457Arg) c.1283A>G (p.Lys428Arg) c.1235A>G (p.Lys412Arg) c.947A>G (p.Lys316Arg) c.1382A>G (p.Lys461Arg) c.1367A>G (p.Lys456Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216754T>G | CA371466703 | EYA1 | c.1298A>C (p.Lys433Thr) c.1196A>C (p.Lys399Thr) c.1193A>C (p.Lys398Thr) c.*577A>C (n.*577A>C) c.688A>C n.1761A>C c.*975A>C (n.*975A>C) c.1385A>C (p.Lys462Thr) c.1280A>C (p.Lys427Thr) n.368A>C c.1277A>C (p.Lys426Thr) c.1199A>C (p.Lys400Thr) c.1295A>C (p.Lys432Thr) c.*243A>C (n.*243A>C) n.1793A>C c.932A>C (p.Lys311Thr) c.1370A>C (p.Lys457Thr) c.1283A>C (p.Lys428Thr) c.1235A>C (p.Lys412Thr) c.947A>C (p.Lys316Thr) c.1382A>C (p.Lys461Thr) c.1367A>C (p.Lys456Thr) | |
| 8 | g.71216754T= | CA1792692792 | EYA1 | c.1298A= (p.Lys433=) c.1196A= (p.Lys399=) c.1193A= (p.Lys398=) c.*577A= (n.*577A=) c.688A= n.1761A= c.*975A= (n.*975A=) c.1385A= (p.Lys462=) c.1280A= (p.Lys427=) n.368A= c.1277A= (p.Lys426=) c.1199A= (p.Lys400=) c.1295A= (p.Lys432=) c.*243A= (n.*243A=) n.1793A= c.932A= (p.Lys311=) c.1370A= (p.Lys457=) c.1283A= (p.Lys428=) c.1235A= (p.Lys412=) c.947A= (p.Lys316=) c.1382A= (p.Lys461=) c.1367A= (p.Lys456=) | |
| 8 | g.71216755T>A | CA371466704 | EYA1 | c.1297A>T (p.Lys433Ter) c.1195A>T (p.Lys399Ter) c.1192A>T (p.Lys398Ter) c.*576A>T (n.*576A>T) c.687A>T n.1760A>T c.*974A>T (n.*974A>T) c.1384A>T (p.Lys462Ter) c.1279A>T (p.Lys427Ter) n.367A>T c.1276A>T (p.Lys426Ter) c.1198A>T (p.Lys400Ter) c.1294A>T (p.Lys432Ter) c.*242A>T (n.*242A>T) n.1792A>T c.931A>T (p.Lys311Ter) c.1369A>T (p.Lys457Ter) c.1282A>T (p.Lys428Ter) c.1234A>T (p.Lys412Ter) c.946A>T (p.Lys316Ter) c.1381A>T (p.Lys461Ter) c.1366A>T (p.Lys456Ter) | |
| 8 | g.71216755T>C | CA371466705 | EYA1 | c.1297A>G (p.Lys433Glu) c.1195A>G (p.Lys399Glu) c.1192A>G (p.Lys398Glu) c.*576A>G (n.*576A>G) c.687A>G n.1760A>G c.*974A>G (n.*974A>G) c.1384A>G (p.Lys462Glu) c.1279A>G (p.Lys427Glu) n.367A>G c.1276A>G (p.Lys426Glu) c.1198A>G (p.Lys400Glu) c.1294A>G (p.Lys432Glu) c.*242A>G (n.*242A>G) n.1792A>G c.931A>G (p.Lys311Glu) c.1369A>G (p.Lys457Glu) c.1282A>G (p.Lys428Glu) c.1234A>G (p.Lys412Glu) c.946A>G (p.Lys316Glu) c.1381A>G (p.Lys461Glu) c.1366A>G (p.Lys456Glu) | |
| 8 | g.71216755T>G | CA371466706 | EYA1 | c.1297A>C (p.Lys433Gln) c.1195A>C (p.Lys399Gln) c.1192A>C (p.Lys398Gln) c.*576A>C (n.*576A>C) c.687A>C n.1760A>C c.*974A>C (n.*974A>C) c.1384A>C (p.Lys462Gln) c.1279A>C (p.Lys427Gln) n.367A>C c.1276A>C (p.Lys426Gln) c.1198A>C (p.Lys400Gln) c.1294A>C (p.Lys432Gln) c.*242A>C (n.*242A>C) n.1792A>C c.931A>C (p.Lys311Gln) c.1369A>C (p.Lys457Gln) c.1282A>C (p.Lys428Gln) c.1234A>C (p.Lys412Gln) c.946A>C (p.Lys316Gln) c.1381A>C (p.Lys461Gln) c.1366A>C (p.Lys456Gln) | gnomAD v4 |
| 8 | g.71216756T>A | CA371466707 | EYA1 | c.1296A>T (p.Arg432Ser) c.1194A>T (p.Arg398Ser) c.1191A>T (p.Arg397Ser) c.*575A>T (n.*575A>T) c.686A>T n.1759A>T c.*973A>T (n.*973A>T) c.1383A>T (p.Arg461Ser) c.1278A>T (p.Arg426Ser) n.366A>T c.1275A>T (p.Arg425Ser) c.1197A>T (p.Arg399Ser) c.1293A>T (p.Arg431Ser) c.*241A>T (n.*241A>T) n.1791A>T c.930A>T (p.Arg310Ser) c.1368A>T (p.Arg456Ser) c.1281A>T (p.Arg427Ser) c.1233A>T (p.Arg411Ser) c.945A>T (p.Arg315Ser) c.1380A>T (p.Arg460Ser) c.1365A>T (p.Arg455Ser) | |
| 8 | g.71216756T>C | CA461433955 | EYA1 | c.1296A>G (p.Arg432=) c.1194A>G (p.Arg398=) c.1191A>G (p.Arg397=) c.*575A>G (n.*575A>G) c.686A>G n.1759A>G c.*973A>G (n.*973A>G) c.1383A>G (p.Arg461=) c.1278A>G (p.Arg426=) n.366A>G c.1275A>G (p.Arg425=) c.1197A>G (p.Arg399=) c.1293A>G (p.Arg431=) c.*241A>G (n.*241A>G) n.1791A>G c.930A>G (p.Arg310=) c.1368A>G (p.Arg456=) c.1281A>G (p.Arg427=) c.1233A>G (p.Arg411=) c.945A>G (p.Arg315=) c.1380A>G (p.Arg460=) c.1365A>G (p.Arg455=) | |
| 8 | g.71216756T>G | CA371466708 | EYA1 | c.1296A>C (p.Arg432Ser) c.1194A>C (p.Arg398Ser) c.1191A>C (p.Arg397Ser) c.*575A>C (n.*575A>C) c.686A>C n.1759A>C c.*973A>C (n.*973A>C) c.1383A>C (p.Arg461Ser) c.1278A>C (p.Arg426Ser) n.366A>C c.1275A>C (p.Arg425Ser) c.1197A>C (p.Arg399Ser) c.1293A>C (p.Arg431Ser) c.*241A>C (n.*241A>C) n.1791A>C c.930A>C (p.Arg310Ser) c.1368A>C (p.Arg456Ser) c.1281A>C (p.Arg427Ser) c.1233A>C (p.Arg411Ser) c.945A>C (p.Arg315Ser) c.1380A>C (p.Arg460Ser) c.1365A>C (p.Arg455Ser) | |
| 8 | g.71216757C>A | CA371466709 | EYA1 | c.1295G>T (p.Arg432Ile) c.1193G>T (p.Arg398Ile) c.1190G>T (p.Arg397Ile) c.*574G>T (n.*574G>T) c.685G>T n.1758G>T c.*972G>T (n.*972G>T) c.1382G>T (p.Arg461Ile) c.1277G>T (p.Arg426Ile) n.365G>T c.1274G>T (p.Arg425Ile) c.1196G>T (p.Arg399Ile) c.1292G>T (p.Arg431Ile) c.*240G>T (n.*240G>T) n.1790G>T c.929G>T (p.Arg310Ile) c.1367G>T (p.Arg456Ile) c.1280G>T (p.Arg427Ile) c.1232G>T (p.Arg411Ile) c.944G>T (p.Arg315Ile) c.1379G>T (p.Arg460Ile) c.1364G>T (p.Arg455Ile) | |
| 8 | g.71216757C= | CA1792692799 | EYA1 | c.1295G= (p.Arg432=) c.1193G= (p.Arg398=) c.1190G= (p.Arg397=) c.*574G= (n.*574G=) c.685G= n.1758G= c.*972G= (n.*972G=) c.1382G= (p.Arg461=) c.1277G= (p.Arg426=) n.365G= c.1274G= (p.Arg425=) c.1196G= (p.Arg399=) c.1292G= (p.Arg431=) c.*240G= (n.*240G=) n.1790G= c.929G= (p.Arg310=) c.1367G= (p.Arg456=) c.1280G= (p.Arg427=) c.1232G= (p.Arg411=) c.944G= (p.Arg315=) c.1379G= (p.Arg460=) c.1364G= (p.Arg455=) | |
| 8 | g.71216757C>G | CA371466710 | EYA1 | c.1295G>C (p.Arg432Thr) c.1193G>C (p.Arg398Thr) c.1190G>C (p.Arg397Thr) c.*574G>C (n.*574G>C) c.685G>C n.1758G>C c.*972G>C (n.*972G>C) c.1382G>C (p.Arg461Thr) c.1277G>C (p.Arg426Thr) n.365G>C c.1274G>C (p.Arg425Thr) c.1196G>C (p.Arg399Thr) c.1292G>C (p.Arg431Thr) c.*240G>C (n.*240G>C) n.1790G>C c.929G>C (p.Arg310Thr) c.1367G>C (p.Arg456Thr) c.1280G>C (p.Arg427Thr) c.1232G>C (p.Arg411Thr) c.944G>C (p.Arg315Thr) c.1379G>C (p.Arg460Thr) c.1364G>C (p.Arg455Thr) | |
| 8 | g.71216757C>T | CA176074 | EYA1 | c.1295G>A (p.Arg432Lys) c.1193G>A (p.Arg398Lys) c.1190G>A (p.Arg397Lys) c.*574G>A (n.*574G>A) c.685G>A n.1758G>A c.*972G>A (n.*972G>A) c.1382G>A (p.Arg461Lys) c.1277G>A (p.Arg426Lys) n.365G>A c.1274G>A (p.Arg425Lys) c.1196G>A (p.Arg399Lys) c.1292G>A (p.Arg431Lys) c.*240G>A (n.*240G>A) n.1790G>A c.929G>A (p.Arg310Lys) c.1367G>A (p.Arg456Lys) c.1280G>A (p.Arg427Lys) c.1232G>A (p.Arg411Lys) c.944G>A (p.Arg315Lys) c.1379G>A (p.Arg460Lys) c.1364G>A (p.Arg455Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216758T>A | CA371466712 | EYA1 | c.1294A>T (p.Arg432Ter) c.1192A>T (p.Arg398Ter) c.1189A>T (p.Arg397Ter) c.*573A>T (n.*573A>T) c.684A>T n.1757A>T c.*971A>T (n.*971A>T) c.1381A>T (p.Arg461Ter) c.1276A>T (p.Arg426Ter) n.364A>T c.1273A>T (p.Arg425Ter) c.1195A>T (p.Arg399Ter) c.1291A>T (p.Arg431Ter) c.*239A>T (n.*239A>T) n.1789A>T c.928A>T (p.Arg310Ter) c.1366A>T (p.Arg456Ter) c.1279A>T (p.Arg427Ter) c.1231A>T (p.Arg411Ter) c.943A>T (p.Arg315Ter) c.1378A>T (p.Arg460Ter) c.1363A>T (p.Arg455Ter) | |
| 8 | g.71216758T>C | CA371466711 | EYA1 | c.1294A>G (p.Arg432Gly) c.1192A>G (p.Arg398Gly) c.1189A>G (p.Arg397Gly) c.*573A>G (n.*573A>G) c.684A>G n.1757A>G c.*971A>G (n.*971A>G) c.1381A>G (p.Arg461Gly) c.1276A>G (p.Arg426Gly) n.364A>G c.1273A>G (p.Arg425Gly) c.1195A>G (p.Arg399Gly) c.1291A>G (p.Arg431Gly) c.*239A>G (n.*239A>G) n.1789A>G c.928A>G (p.Arg310Gly) c.1366A>G (p.Arg456Gly) c.1279A>G (p.Arg427Gly) c.1231A>G (p.Arg411Gly) c.943A>G (p.Arg315Gly) c.1378A>G (p.Arg460Gly) c.1363A>G (p.Arg455Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216758T>G | CA461433960 | EYA1 | c.1294A>C (p.Arg432=) c.1192A>C (p.Arg398=) c.1189A>C (p.Arg397=) c.*573A>C (n.*573A>C) c.684A>C n.1757A>C c.*971A>C (n.*971A>C) c.1381A>C (p.Arg461=) c.1276A>C (p.Arg426=) n.364A>C c.1273A>C (p.Arg425=) c.1195A>C (p.Arg399=) c.1291A>C (p.Arg431=) c.*239A>C (n.*239A>C) n.1789A>C c.928A>C (p.Arg310=) c.1366A>C (p.Arg456=) c.1279A>C (p.Arg427=) c.1231A>C (p.Arg411=) c.943A>C (p.Arg315=) c.1378A>C (p.Arg460=) c.1363A>C (p.Arg455=) | |
| 8 | g.71216758T= | CA1792692807 | EYA1 | c.1294A= (p.Arg432=) c.1192A= (p.Arg398=) c.1189A= (p.Arg397=) c.*573A= (n.*573A=) c.684A= n.1757A= c.*971A= (n.*971A=) c.1381A= (p.Arg461=) c.1276A= (p.Arg426=) n.364A= c.1273A= (p.Arg425=) c.1195A= (p.Arg399=) c.1291A= (p.Arg431=) c.*239A= (n.*239A=) n.1789A= c.928A= (p.Arg310=) c.1366A= (p.Arg456=) c.1279A= (p.Arg427=) c.1231A= (p.Arg411=) c.943A= (p.Arg315=) c.1378A= (p.Arg460=) c.1363A= (p.Arg455=) | |
| 8 | g.71216759C>A | CA371466713 | EYA1 | c.1293G>T (p.Met431Ile) c.1191G>T (p.Met397Ile) c.1188G>T (p.Met396Ile) c.*572G>T (n.*572G>T) c.683G>T n.1756G>T c.*970G>T (n.*970G>T) c.1380G>T (p.Met460Ile) c.1275G>T (p.Met425Ile) n.363G>T c.1272G>T (p.Met424Ile) c.1194G>T (p.Met398Ile) c.1290G>T (p.Met430Ile) c.*238G>T (n.*238G>T) n.1788G>T c.927G>T (p.Met309Ile) c.1365G>T (p.Met455Ile) c.1278G>T (p.Met426Ile) c.1230G>T (p.Met410Ile) c.942G>T (p.Met314Ile) c.1377G>T (p.Met459Ile) c.1362G>T (p.Met454Ile) | |
| 8 | g.71216759C>G | CA371466715 | EYA1 | c.1293G>C (p.Met431Ile) c.1191G>C (p.Met397Ile) c.1188G>C (p.Met396Ile) c.*572G>C (n.*572G>C) c.683G>C n.1756G>C c.*970G>C (n.*970G>C) c.1380G>C (p.Met460Ile) c.1275G>C (p.Met425Ile) n.363G>C c.1272G>C (p.Met424Ile) c.1194G>C (p.Met398Ile) c.1290G>C (p.Met430Ile) c.*238G>C (n.*238G>C) n.1788G>C c.927G>C (p.Met309Ile) c.1365G>C (p.Met455Ile) c.1278G>C (p.Met426Ile) c.1230G>C (p.Met410Ile) c.942G>C (p.Met314Ile) c.1377G>C (p.Met459Ile) c.1362G>C (p.Met454Ile) | |
| 8 | g.71216759C>T | CA371466714 | EYA1 | c.1293G>A (p.Met431Ile) c.1191G>A (p.Met397Ile) c.1188G>A (p.Met396Ile) c.*572G>A (n.*572G>A) c.683G>A n.1756G>A c.*970G>A (n.*970G>A) c.1380G>A (p.Met460Ile) c.1275G>A (p.Met425Ile) n.363G>A c.1272G>A (p.Met424Ile) c.1194G>A (p.Met398Ile) c.1290G>A (p.Met430Ile) c.*238G>A (n.*238G>A) n.1788G>A c.927G>A (p.Met309Ile) c.1365G>A (p.Met455Ile) c.1278G>A (p.Met426Ile) c.1230G>A (p.Met410Ile) c.942G>A (p.Met314Ile) c.1377G>A (p.Met459Ile) c.1362G>A (p.Met454Ile) | COSMIC COSMIC |
| 8 | g.71216760A= | CA1792692813 | EYA1 | c.1292T= (p.Met431=) c.1190T= (p.Met397=) c.1187T= (p.Met396=) c.*571T= (n.*571T=) c.682T= n.1755T= c.*969T= (n.*969T=) c.1379T= (p.Met460=) c.1274T= (p.Met425=) n.362T= c.1271T= (p.Met424=) c.1193T= (p.Met398=) c.1289T= (p.Met430=) c.*237T= (n.*237T=) n.1787T= c.926T= (p.Met309=) c.1364T= (p.Met455=) c.1277T= (p.Met426=) c.1229T= (p.Met410=) c.941T= (p.Met314=) c.1376T= (p.Met459=) c.1361T= (p.Met454=) | |
| 8 | g.71216760A>C | CA371466716 | EYA1 | c.1292T>G (p.Met431Arg) c.1190T>G (p.Met397Arg) c.1187T>G (p.Met396Arg) c.*571T>G (n.*571T>G) c.682T>G n.1755T>G c.*969T>G (n.*969T>G) c.1379T>G (p.Met460Arg) c.1274T>G (p.Met425Arg) n.362T>G c.1271T>G (p.Met424Arg) c.1193T>G (p.Met398Arg) c.1289T>G (p.Met430Arg) c.*237T>G (n.*237T>G) n.1787T>G c.926T>G (p.Met309Arg) c.1364T>G (p.Met455Arg) c.1277T>G (p.Met426Arg) c.1229T>G (p.Met410Arg) c.941T>G (p.Met314Arg) c.1376T>G (p.Met459Arg) c.1361T>G (p.Met454Arg) | gnomAD v4 |
| 8 | g.71216760A>G | CA371466717 | EYA1 | c.1292T>C (p.Met431Thr) c.1190T>C (p.Met397Thr) c.1187T>C (p.Met396Thr) c.*571T>C (n.*571T>C) c.682T>C n.1755T>C c.*969T>C (n.*969T>C) c.1379T>C (p.Met460Thr) c.1274T>C (p.Met425Thr) n.362T>C c.1271T>C (p.Met424Thr) c.1193T>C (p.Met398Thr) c.1289T>C (p.Met430Thr) c.*237T>C (n.*237T>C) n.1787T>C c.926T>C (p.Met309Thr) c.1364T>C (p.Met455Thr) c.1277T>C (p.Met426Thr) c.1229T>C (p.Met410Thr) c.941T>C (p.Met314Thr) c.1376T>C (p.Met459Thr) c.1361T>C (p.Met454Thr) | dbSNP gnomAD v4 |
| 8 | g.71216760A>T | CA371466718 | EYA1 | c.1292T>A (p.Met431Lys) c.1190T>A (p.Met397Lys) c.1187T>A (p.Met396Lys) c.*571T>A (n.*571T>A) c.682T>A n.1755T>A c.*969T>A (n.*969T>A) c.1379T>A (p.Met460Lys) c.1274T>A (p.Met425Lys) n.362T>A c.1271T>A (p.Met424Lys) c.1193T>A (p.Met398Lys) c.1289T>A (p.Met430Lys) c.*237T>A (n.*237T>A) n.1787T>A c.926T>A (p.Met309Lys) c.1364T>A (p.Met455Lys) c.1277T>A (p.Met426Lys) c.1229T>A (p.Met410Lys) c.941T>A (p.Met314Lys) c.1376T>A (p.Met459Lys) c.1361T>A (p.Met454Lys) | |
| 8 | g.71216761T>A | CA371466719 | EYA1 | c.1291A>T (p.Met431Leu) c.1189A>T (p.Met397Leu) c.1186A>T (p.Met396Leu) c.*570A>T (n.*570A>T) c.681A>T n.1754A>T c.*968A>T (n.*968A>T) c.1378A>T (p.Met460Leu) c.1273A>T (p.Met425Leu) n.361A>T c.1270A>T (p.Met424Leu) c.1192A>T (p.Met398Leu) c.1288A>T (p.Met430Leu) c.*236A>T (n.*236A>T) n.1786A>T c.925A>T (p.Met309Leu) c.1363A>T (p.Met455Leu) c.1276A>T (p.Met426Leu) c.1228A>T (p.Met410Leu) c.940A>T (p.Met314Leu) c.1375A>T (p.Met459Leu) c.1360A>T (p.Met454Leu) | |
| 8 | g.71216761T>C | CA371466720 | EYA1 | c.1291A>G (p.Met431Val) c.1189A>G (p.Met397Val) c.1186A>G (p.Met396Val) c.*570A>G (n.*570A>G) c.681A>G n.1754A>G c.*968A>G (n.*968A>G) c.1378A>G (p.Met460Val) c.1273A>G (p.Met425Val) n.361A>G c.1270A>G (p.Met424Val) c.1192A>G (p.Met398Val) c.1288A>G (p.Met430Val) c.*236A>G (n.*236A>G) n.1786A>G c.925A>G (p.Met309Val) c.1363A>G (p.Met455Val) c.1276A>G (p.Met426Val) c.1228A>G (p.Met410Val) c.940A>G (p.Met314Val) c.1375A>G (p.Met459Val) c.1360A>G (p.Met454Val) | |
| 8 | g.71216761T>G | CA371466721 | EYA1 | c.1291A>C (p.Met431Leu) c.1189A>C (p.Met397Leu) c.1186A>C (p.Met396Leu) c.*570A>C (n.*570A>C) c.681A>C n.1754A>C c.*968A>C (n.*968A>C) c.1378A>C (p.Met460Leu) c.1273A>C (p.Met425Leu) n.361A>C c.1270A>C (p.Met424Leu) c.1192A>C (p.Met398Leu) c.1288A>C (p.Met430Leu) c.*236A>C (n.*236A>C) n.1786A>C c.925A>C (p.Met309Leu) c.1363A>C (p.Met455Leu) c.1276A>C (p.Met426Leu) c.1228A>C (p.Met410Leu) c.940A>C (p.Met314Leu) c.1375A>C (p.Met459Leu) c.1360A>C (p.Met454Leu) | |
| 8 | g.71216762C>A | CA371466722 | EYA1 | c.1290G>T (p.Trp430Cys) c.1188G>T (p.Trp396Cys) c.1185G>T (p.Trp395Cys) c.*569G>T (n.*569G>T) c.680G>T n.1753G>T c.*967G>T (n.*967G>T) c.1377G>T (p.Trp459Cys) c.1272G>T (p.Trp424Cys) n.360G>T c.1269G>T (p.Trp423Cys) c.1191G>T (p.Trp397Cys) c.1287G>T (p.Trp429Cys) c.*235G>T (n.*235G>T) n.1785G>T c.924G>T (p.Trp308Cys) c.1362G>T (p.Trp454Cys) c.1275G>T (p.Trp425Cys) c.1227G>T (p.Trp409Cys) c.939G>T (p.Trp313Cys) c.1374G>T (p.Trp458Cys) c.1359G>T (p.Trp453Cys) | COSMIC |
| 8 | g.71216762C>G | CA371466723 | EYA1 | c.1290G>C (p.Trp430Cys) c.1188G>C (p.Trp396Cys) c.1185G>C (p.Trp395Cys) c.*569G>C (n.*569G>C) c.680G>C n.1753G>C c.*967G>C (n.*967G>C) c.1377G>C (p.Trp459Cys) c.1272G>C (p.Trp424Cys) n.360G>C c.1269G>C (p.Trp423Cys) c.1191G>C (p.Trp397Cys) c.1287G>C (p.Trp429Cys) c.*235G>C (n.*235G>C) n.1785G>C c.924G>C (p.Trp308Cys) c.1362G>C (p.Trp454Cys) c.1275G>C (p.Trp425Cys) c.1227G>C (p.Trp409Cys) c.939G>C (p.Trp313Cys) c.1374G>C (p.Trp458Cys) c.1359G>C (p.Trp453Cys) | |
| 8 | g.71216762C>T | CA371466724 | EYA1 | c.1290G>A (p.Trp430Ter) c.1188G>A (p.Trp396Ter) c.1185G>A (p.Trp395Ter) c.*569G>A (n.*569G>A) c.680G>A n.1753G>A c.*967G>A (n.*967G>A) c.1377G>A (p.Trp459Ter) c.1272G>A (p.Trp424Ter) n.360G>A c.1269G>A (p.Trp423Ter) c.1191G>A (p.Trp397Ter) c.1287G>A (p.Trp429Ter) c.*235G>A (n.*235G>A) n.1785G>A c.924G>A (p.Trp308Ter) c.1362G>A (p.Trp454Ter) c.1275G>A (p.Trp425Ter) c.1227G>A (p.Trp409Ter) c.939G>A (p.Trp313Ter) c.1374G>A (p.Trp458Ter) c.1359G>A (p.Trp453Ter) | |
| 8 | g.71216763C>A | CA371466725 | EYA1 | c.1289G>T (p.Trp430Leu) c.1187G>T (p.Trp396Leu) c.1184G>T (p.Trp395Leu) c.*568G>T (n.*568G>T) c.679G>T n.1752G>T c.*966G>T (n.*966G>T) c.1376G>T (p.Trp459Leu) c.1271G>T (p.Trp424Leu) n.359G>T c.1268G>T (p.Trp423Leu) c.1190G>T (p.Trp397Leu) c.1286G>T (p.Trp429Leu) c.*234G>T (n.*234G>T) n.1784G>T c.923G>T (p.Trp308Leu) c.1361G>T (p.Trp454Leu) c.1274G>T (p.Trp425Leu) c.1226G>T (p.Trp409Leu) c.938G>T (p.Trp313Leu) c.1373G>T (p.Trp458Leu) c.1358G>T (p.Trp453Leu) | |
| 8 | g.71216763C>G | CA371466726 | EYA1 | c.1289G>C (p.Trp430Ser) c.1187G>C (p.Trp396Ser) c.1184G>C (p.Trp395Ser) c.*568G>C (n.*568G>C) c.679G>C n.1752G>C c.*966G>C (n.*966G>C) c.1376G>C (p.Trp459Ser) c.1271G>C (p.Trp424Ser) n.359G>C c.1268G>C (p.Trp423Ser) c.1190G>C (p.Trp397Ser) c.1286G>C (p.Trp429Ser) c.*234G>C (n.*234G>C) n.1784G>C c.923G>C (p.Trp308Ser) c.1361G>C (p.Trp454Ser) c.1274G>C (p.Trp425Ser) c.1226G>C (p.Trp409Ser) c.938G>C (p.Trp313Ser) c.1373G>C (p.Trp458Ser) c.1358G>C (p.Trp453Ser) | |
| 8 | g.71216763C>T | CA371466727 | EYA1 | c.1289G>A (p.Trp430Ter) c.1187G>A (p.Trp396Ter) c.1184G>A (p.Trp395Ter) c.*568G>A (n.*568G>A) c.679G>A n.1752G>A c.*966G>A (n.*966G>A) c.1376G>A (p.Trp459Ter) c.1271G>A (p.Trp424Ter) n.359G>A c.1268G>A (p.Trp423Ter) c.1190G>A (p.Trp397Ter) c.1286G>A (p.Trp429Ter) c.*234G>A (n.*234G>A) n.1784G>A c.923G>A (p.Trp308Ter) c.1361G>A (p.Trp454Ter) c.1274G>A (p.Trp425Ter) c.1226G>A (p.Trp409Ter) c.938G>A (p.Trp313Ter) c.1373G>A (p.Trp458Ter) c.1358G>A (p.Trp453Ter) | |
| 8 | g.71216764A= | CA1792692820 | EYA1 | c.1288T= (p.Trp430=) c.1186T= (p.Trp396=) c.1183T= (p.Trp395=) c.*567T= (n.*567T=) c.678T= n.1751T= c.*965T= (n.*965T=) c.1375T= (p.Trp459=) c.1270T= (p.Trp424=) n.358T= c.1267T= (p.Trp423=) c.1189T= (p.Trp397=) c.1285T= (p.Trp429=) c.*233T= (n.*233T=) n.1783T= c.922T= (p.Trp308=) c.1360T= (p.Trp454=) c.1273T= (p.Trp425=) c.1225T= (p.Trp409=) c.937T= (p.Trp313=) c.1372T= (p.Trp458=) c.1357T= (p.Trp453=) | |
| 8 | g.71216764A>C | CA371466729 | EYA1 | c.1288T>G (p.Trp430Gly) c.1186T>G (p.Trp396Gly) c.1183T>G (p.Trp395Gly) c.*567T>G (n.*567T>G) c.678T>G n.1751T>G c.*965T>G (n.*965T>G) c.1375T>G (p.Trp459Gly) c.1270T>G (p.Trp424Gly) n.358T>G c.1267T>G (p.Trp423Gly) c.1189T>G (p.Trp397Gly) c.1285T>G (p.Trp429Gly) c.*233T>G (n.*233T>G) n.1783T>G c.922T>G (p.Trp308Gly) c.1360T>G (p.Trp454Gly) c.1273T>G (p.Trp425Gly) c.1225T>G (p.Trp409Gly) c.937T>G (p.Trp313Gly) c.1372T>G (p.Trp458Gly) c.1357T>G (p.Trp453Gly) | |
| 8 | g.71216764A>G | CA179210100 | EYA1 | c.1288T>C (p.Trp430Arg) c.1186T>C (p.Trp396Arg) c.1183T>C (p.Trp395Arg) c.*567T>C (n.*567T>C) c.678T>C n.1751T>C c.*965T>C (n.*965T>C) c.1375T>C (p.Trp459Arg) c.1270T>C (p.Trp424Arg) n.358T>C c.1267T>C (p.Trp423Arg) c.1189T>C (p.Trp397Arg) c.1285T>C (p.Trp429Arg) c.*233T>C (n.*233T>C) n.1783T>C c.922T>C (p.Trp308Arg) c.1360T>C (p.Trp454Arg) c.1273T>C (p.Trp425Arg) c.1225T>C (p.Trp409Arg) c.937T>C (p.Trp313Arg) c.1372T>C (p.Trp458Arg) c.1357T>C (p.Trp453Arg) | dbSNP |
| 8 | g.71216764A>T | CA371466728 | EYA1 | c.1288T>A (p.Trp430Arg) c.1186T>A (p.Trp396Arg) c.1183T>A (p.Trp395Arg) c.*567T>A (n.*567T>A) c.678T>A n.1751T>A c.*965T>A (n.*965T>A) c.1375T>A (p.Trp459Arg) c.1270T>A (p.Trp424Arg) n.358T>A c.1267T>A (p.Trp423Arg) c.1189T>A (p.Trp397Arg) c.1285T>A (p.Trp429Arg) c.*233T>A (n.*233T>A) n.1783T>A c.922T>A (p.Trp308Arg) c.1360T>A (p.Trp454Arg) c.1273T>A (p.Trp425Arg) c.1225T>A (p.Trp409Arg) c.937T>A (p.Trp313Arg) c.1372T>A (p.Trp458Arg) c.1357T>A (p.Trp453Arg) | |
| 8 | g.71216765G>A | CA461433975 | EYA1 | c.1287C>T (p.Asp429=) c.1185C>T (p.Asp395=) c.1182C>T (p.Asp394=) c.*566C>T (n.*566C>T) c.677C>T n.1750C>T c.*964C>T (n.*964C>T) c.1374C>T (p.Asp458=) c.1269C>T (p.Asp423=) n.357C>T c.1266C>T (p.Asp422=) c.1188C>T (p.Asp396=) c.1284C>T (p.Asp428=) c.*232C>T (n.*232C>T) n.1782C>T c.921C>T (p.Asp307=) c.1359C>T (p.Asp453=) c.1272C>T (p.Asp424=) c.1224C>T (p.Asp408=) c.936C>T (p.Asp312=) c.1371C>T (p.Asp457=) c.1356C>T (p.Asp452=) | |
| 8 | g.71216765G>C | CA371466730 | EYA1 | c.1287C>G (p.Asp429Glu) c.1185C>G (p.Asp395Glu) c.1182C>G (p.Asp394Glu) c.*566C>G (n.*566C>G) c.677C>G n.1750C>G c.*964C>G (n.*964C>G) c.1374C>G (p.Asp458Glu) c.1269C>G (p.Asp423Glu) n.357C>G c.1266C>G (p.Asp422Glu) c.1188C>G (p.Asp396Glu) c.1284C>G (p.Asp428Glu) c.*232C>G (n.*232C>G) n.1782C>G c.921C>G (p.Asp307Glu) c.1359C>G (p.Asp453Glu) c.1272C>G (p.Asp424Glu) c.1224C>G (p.Asp408Glu) c.936C>G (p.Asp312Glu) c.1371C>G (p.Asp457Glu) c.1356C>G (p.Asp452Glu) | dbSNP gnomAD v4 |
| 8 | g.71216765G= | CA1792692824 | EYA1 | c.1287C= (p.Asp429=) c.1185C= (p.Asp395=) c.1182C= (p.Asp394=) c.*566C= (n.*566C=) c.677C= n.1750C= c.*964C= (n.*964C=) c.1374C= (p.Asp458=) c.1269C= (p.Asp423=) n.357C= c.1266C= (p.Asp422=) c.1188C= (p.Asp396=) c.1284C= (p.Asp428=) c.*232C= (n.*232C=) n.1782C= c.921C= (p.Asp307=) c.1359C= (p.Asp453=) c.1272C= (p.Asp424=) c.1224C= (p.Asp408=) c.936C= (p.Asp312=) c.1371C= (p.Asp457=) c.1356C= (p.Asp452=) | |
| 8 | g.71216765G>T | CA371466731 | EYA1 | c.1287C>A (p.Asp429Glu) c.1185C>A (p.Asp395Glu) c.1182C>A (p.Asp394Glu) c.*566C>A (n.*566C>A) c.677C>A n.1750C>A c.*964C>A (n.*964C>A) c.1374C>A (p.Asp458Glu) c.1269C>A (p.Asp423Glu) n.357C>A c.1266C>A (p.Asp422Glu) c.1188C>A (p.Asp396Glu) c.1284C>A (p.Asp428Glu) c.*232C>A (n.*232C>A) n.1782C>A c.921C>A (p.Asp307Glu) c.1359C>A (p.Asp453Glu) c.1272C>A (p.Asp424Glu) c.1224C>A (p.Asp408Glu) c.936C>A (p.Asp312Glu) c.1371C>A (p.Asp457Glu) c.1356C>A (p.Asp452Glu) | |
| 8 | g.71216766T>A | CA371466732 | EYA1 | c.1286A>T (p.Asp429Val) c.1184A>T (p.Asp395Val) c.1181A>T (p.Asp394Val) c.*565A>T (n.*565A>T) c.676A>T n.1749A>T c.*963A>T (n.*963A>T) c.1373A>T (p.Asp458Val) c.1268A>T (p.Asp423Val) n.356A>T c.1265A>T (p.Asp422Val) c.1187A>T (p.Asp396Val) c.1283A>T (p.Asp428Val) c.*231A>T (n.*231A>T) n.1781A>T c.920A>T (p.Asp307Val) c.1358A>T (p.Asp453Val) c.1271A>T (p.Asp424Val) c.1223A>T (p.Asp408Val) c.935A>T (p.Asp312Val) c.1370A>T (p.Asp457Val) c.1355A>T (p.Asp452Val) | |
| 8 | g.71216766T>C | CA371466733 | EYA1 | c.1286A>G (p.Asp429Gly) c.1184A>G (p.Asp395Gly) c.1181A>G (p.Asp394Gly) c.*565A>G (n.*565A>G) c.676A>G n.1749A>G c.*963A>G (n.*963A>G) c.1373A>G (p.Asp458Gly) c.1268A>G (p.Asp423Gly) n.356A>G c.1265A>G (p.Asp422Gly) c.1187A>G (p.Asp396Gly) c.1283A>G (p.Asp428Gly) c.*231A>G (n.*231A>G) n.1781A>G c.920A>G (p.Asp307Gly) c.1358A>G (p.Asp453Gly) c.1271A>G (p.Asp424Gly) c.1223A>G (p.Asp408Gly) c.935A>G (p.Asp312Gly) c.1370A>G (p.Asp457Gly) c.1355A>G (p.Asp452Gly) | |
| 8 | g.71216766T>G | CA371466734 | EYA1 | c.1286A>C (p.Asp429Ala) c.1184A>C (p.Asp395Ala) c.1181A>C (p.Asp394Ala) c.*565A>C (n.*565A>C) c.676A>C n.1749A>C c.*963A>C (n.*963A>C) c.1373A>C (p.Asp458Ala) c.1268A>C (p.Asp423Ala) n.356A>C c.1265A>C (p.Asp422Ala) c.1187A>C (p.Asp396Ala) c.1283A>C (p.Asp428Ala) c.*231A>C (n.*231A>C) n.1781A>C c.920A>C (p.Asp307Ala) c.1358A>C (p.Asp453Ala) c.1271A>C (p.Asp424Ala) c.1223A>C (p.Asp408Ala) c.935A>C (p.Asp312Ala) c.1370A>C (p.Asp457Ala) c.1355A>C (p.Asp452Ala) | |
| 8 | g.71216767C>A | CA371466735 | EYA1 | c.1285G>T (p.Asp429Tyr) c.1183G>T (p.Asp395Tyr) c.1180G>T (p.Asp394Tyr) c.*564G>T (n.*564G>T) c.675G>T n.1748G>T c.*962G>T (n.*962G>T) c.1372G>T (p.Asp458Tyr) c.1267G>T (p.Asp423Tyr) n.355G>T c.1264G>T (p.Asp422Tyr) c.1186G>T (p.Asp396Tyr) c.1282G>T (p.Asp428Tyr) c.*230G>T (n.*230G>T) n.1780G>T c.919G>T (p.Asp307Tyr) c.1357G>T (p.Asp453Tyr) c.1270G>T (p.Asp424Tyr) c.1222G>T (p.Asp408Tyr) c.934G>T (p.Asp312Tyr) c.1369G>T (p.Asp457Tyr) c.1354G>T (p.Asp452Tyr) | |
| 8 | g.71216767C>G | CA371466736 | EYA1 | c.1285G>C (p.Asp429His) c.1183G>C (p.Asp395His) c.1180G>C (p.Asp394His) c.*564G>C (n.*564G>C) c.675G>C n.1748G>C c.*962G>C (n.*962G>C) c.1372G>C (p.Asp458His) c.1267G>C (p.Asp423His) n.355G>C c.1264G>C (p.Asp422His) c.1186G>C (p.Asp396His) c.1282G>C (p.Asp428His) c.*230G>C (n.*230G>C) n.1780G>C c.919G>C (p.Asp307His) c.1357G>C (p.Asp453His) c.1270G>C (p.Asp424His) c.1222G>C (p.Asp408His) c.934G>C (p.Asp312His) c.1369G>C (p.Asp457His) c.1354G>C (p.Asp452His) | ClinVar |
| 8 | g.71216767C>T | CA371466737 | EYA1 | c.1285G>A (p.Asp429Asn) c.1183G>A (p.Asp395Asn) c.1180G>A (p.Asp394Asn) c.*564G>A (n.*564G>A) c.675G>A n.1748G>A c.*962G>A (n.*962G>A) c.1372G>A (p.Asp458Asn) c.1267G>A (p.Asp423Asn) n.355G>A c.1264G>A (p.Asp422Asn) c.1186G>A (p.Asp396Asn) c.1282G>A (p.Asp428Asn) c.*230G>A (n.*230G>A) n.1780G>A c.919G>A (p.Asp307Asn) c.1357G>A (p.Asp453Asn) c.1270G>A (p.Asp424Asn) c.1222G>A (p.Asp408Asn) c.934G>A (p.Asp312Asn) c.1369G>A (p.Asp457Asn) c.1354G>A (p.Asp452Asn) | |
| 8 | g.71216768C>A | CA461433985 | EYA1 | c.1284G>T (p.Val428=) c.1182G>T (p.Val394=) c.1179G>T (p.Val393=) c.*563G>T (n.*563G>T) c.674G>T n.1747G>T c.*961G>T (n.*961G>T) c.1371G>T (p.Val457=) c.1266G>T (p.Val422=) n.354G>T c.1263G>T (p.Val421=) c.1185G>T (p.Val395=) c.1281G>T (p.Val427=) c.*229G>T (n.*229G>T) n.1779G>T c.918G>T (p.Val306=) c.1356G>T (p.Val452=) c.1269G>T (p.Val423=) c.1221G>T (p.Val407=) c.933G>T (p.Val311=) c.1368G>T (p.Val456=) c.1353G>T (p.Val451=) | |
| 8 | g.71216768C>G | CA461433986 | EYA1 | c.1284G>C (p.Val428=) c.1182G>C (p.Val394=) c.1179G>C (p.Val393=) c.*563G>C (n.*563G>C) c.674G>C n.1747G>C c.*961G>C (n.*961G>C) c.1371G>C (p.Val457=) c.1266G>C (p.Val422=) n.354G>C c.1263G>C (p.Val421=) c.1185G>C (p.Val395=) c.1281G>C (p.Val427=) c.*229G>C (n.*229G>C) n.1779G>C c.918G>C (p.Val306=) c.1356G>C (p.Val452=) c.1269G>C (p.Val423=) c.1221G>C (p.Val407=) c.933G>C (p.Val311=) c.1368G>C (p.Val456=) c.1353G>C (p.Val451=) | |
| 8 | g.71216768C>T | CA461433987 | EYA1 | c.1284G>A (p.Val428=) c.1182G>A (p.Val394=) c.1179G>A (p.Val393=) c.*563G>A (n.*563G>A) c.674G>A n.1747G>A c.*961G>A (n.*961G>A) c.1371G>A (p.Val457=) c.1266G>A (p.Val422=) n.354G>A c.1263G>A (p.Val421=) c.1185G>A (p.Val395=) c.1281G>A (p.Val427=) c.*229G>A (n.*229G>A) n.1779G>A c.918G>A (p.Val306=) c.1356G>A (p.Val452=) c.1269G>A (p.Val423=) c.1221G>A (p.Val407=) c.933G>A (p.Val311=) c.1368G>A (p.Val456=) c.1353G>A (p.Val451=) | |
| 8 | g.71216769A>C | CA371466738 | EYA1 | c.1283T>G (p.Val428Gly) c.1181T>G (p.Val394Gly) c.1178T>G (p.Val393Gly) c.*562T>G (n.*562T>G) c.673T>G n.1746T>G c.*960T>G (n.*960T>G) c.1370T>G (p.Val457Gly) c.1265T>G (p.Val422Gly) n.353T>G c.1262T>G (p.Val421Gly) c.1184T>G (p.Val395Gly) c.1280T>G (p.Val427Gly) c.*228T>G (n.*228T>G) n.1778T>G c.917T>G (p.Val306Gly) c.1355T>G (p.Val452Gly) c.1268T>G (p.Val423Gly) c.1220T>G (p.Val407Gly) c.932T>G (p.Val311Gly) c.1367T>G (p.Val456Gly) c.1352T>G (p.Val451Gly) | |
| 8 | g.71216769A>G | CA371466739 | EYA1 | c.1283T>C (p.Val428Ala) c.1181T>C (p.Val394Ala) c.1178T>C (p.Val393Ala) c.*562T>C (n.*562T>C) c.673T>C n.1746T>C c.*960T>C (n.*960T>C) c.1370T>C (p.Val457Ala) c.1265T>C (p.Val422Ala) n.353T>C c.1262T>C (p.Val421Ala) c.1184T>C (p.Val395Ala) c.1280T>C (p.Val427Ala) c.*228T>C (n.*228T>C) n.1778T>C c.917T>C (p.Val306Ala) c.1355T>C (p.Val452Ala) c.1268T>C (p.Val423Ala) c.1220T>C (p.Val407Ala) c.932T>C (p.Val311Ala) c.1367T>C (p.Val456Ala) c.1352T>C (p.Val451Ala) | |
| 8 | g.71216769A>T | CA371466740 | EYA1 | c.1283T>A (p.Val428Glu) c.1181T>A (p.Val394Glu) c.1178T>A (p.Val393Glu) c.*562T>A (n.*562T>A) c.673T>A n.1746T>A c.*960T>A (n.*960T>A) c.1370T>A (p.Val457Glu) c.1265T>A (p.Val422Glu) n.353T>A c.1262T>A (p.Val421Glu) c.1184T>A (p.Val395Glu) c.1280T>A (p.Val427Glu) c.*228T>A (n.*228T>A) n.1778T>A c.917T>A (p.Val306Glu) c.1355T>A (p.Val452Glu) c.1268T>A (p.Val423Glu) c.1220T>A (p.Val407Glu) c.932T>A (p.Val311Glu) c.1367T>A (p.Val456Glu) c.1352T>A (p.Val451Glu) | |
| 8 | g.71216770C>A | CA371466743 | EYA1 | c.1282G>T (p.Val428Leu) c.1180G>T (p.Val394Leu) c.1177G>T (p.Val393Leu) c.*561G>T (n.*561G>T) c.672G>T n.1745G>T c.*959G>T (n.*959G>T) c.1369G>T (p.Val457Leu) c.1264G>T (p.Val422Leu) n.352G>T c.1261G>T (p.Val421Leu) c.1183G>T (p.Val395Leu) c.1279G>T (p.Val427Leu) c.*227G>T (n.*227G>T) n.1777G>T c.916G>T (p.Val306Leu) c.1354G>T (p.Val452Leu) c.1267G>T (p.Val423Leu) c.1219G>T (p.Val407Leu) c.931G>T (p.Val311Leu) c.1366G>T (p.Val456Leu) c.1351G>T (p.Val451Leu) | |
| 8 | g.71216770C= | CA1792692828 | EYA1 | c.1282G= (p.Val428=) c.1180G= (p.Val394=) c.1177G= (p.Val393=) c.*561G= (n.*561G=) c.672G= n.1745G= c.*959G= (n.*959G=) c.1369G= (p.Val457=) c.1264G= (p.Val422=) n.352G= c.1261G= (p.Val421=) c.1183G= (p.Val395=) c.1279G= (p.Val427=) c.*227G= (n.*227G=) n.1777G= c.916G= (p.Val306=) c.1354G= (p.Val452=) c.1267G= (p.Val423=) c.1219G= (p.Val407=) c.931G= (p.Val311=) c.1366G= (p.Val456=) c.1351G= (p.Val451=) | |
| 8 | g.71216770C>G | CA371466742 | EYA1 | c.1282G>C (p.Val428Leu) c.1180G>C (p.Val394Leu) c.1177G>C (p.Val393Leu) c.*561G>C (n.*561G>C) c.672G>C n.1745G>C c.*959G>C (n.*959G>C) c.1369G>C (p.Val457Leu) c.1264G>C (p.Val422Leu) n.352G>C c.1261G>C (p.Val421Leu) c.1183G>C (p.Val395Leu) c.1279G>C (p.Val427Leu) c.*227G>C (n.*227G>C) n.1777G>C c.916G>C (p.Val306Leu) c.1354G>C (p.Val452Leu) c.1267G>C (p.Val423Leu) c.1219G>C (p.Val407Leu) c.931G>C (p.Val311Leu) c.1366G>C (p.Val456Leu) c.1351G>C (p.Val451Leu) | |
| 8 | g.71216770C>T | CA371466741 | EYA1 | c.1282G>A (p.Val428Met) c.1180G>A (p.Val394Met) c.1177G>A (p.Val393Met) c.*561G>A (n.*561G>A) c.672G>A n.1745G>A c.*959G>A (n.*959G>A) c.1369G>A (p.Val457Met) c.1264G>A (p.Val422Met) n.352G>A c.1261G>A (p.Val421Met) c.1183G>A (p.Val395Met) c.1279G>A (p.Val427Met) c.*227G>A (n.*227G>A) n.1777G>A c.916G>A (p.Val306Met) c.1354G>A (p.Val452Met) c.1267G>A (p.Val423Met) c.1219G>A (p.Val407Met) c.931G>A (p.Val311Met) c.1366G>A (p.Val456Met) c.1351G>A (p.Val451Met) | dbSNP |
| 8 | g.71216771A>C | CA461433992 | EYA1 | c.1281T>G (p.Gly427=) c.1179T>G (p.Gly393=) c.1176T>G (p.Gly392=) c.*560T>G (n.*560T>G) c.671T>G n.1744T>G c.*958T>G (n.*958T>G) c.1368T>G (p.Gly456=) c.1263T>G (p.Gly421=) n.351T>G c.1260T>G (p.Gly420=) c.1182T>G (p.Gly394=) c.1278T>G (p.Gly426=) c.*226T>G (n.*226T>G) n.1776T>G c.915T>G (p.Gly305=) c.1353T>G (p.Gly451=) c.1266T>G (p.Gly422=) c.1218T>G (p.Gly406=) c.930T>G (p.Gly310=) c.1365T>G (p.Gly455=) c.1350T>G (p.Gly450=) | COSMIC COSMIC |
| 8 | g.71216771A>G | CA461433993 | EYA1 | c.1281T>C (p.Gly427=) c.1179T>C (p.Gly393=) c.1176T>C (p.Gly392=) c.*560T>C (n.*560T>C) c.671T>C n.1744T>C c.*958T>C (n.*958T>C) c.1368T>C (p.Gly456=) c.1263T>C (p.Gly421=) n.351T>C c.1260T>C (p.Gly420=) c.1182T>C (p.Gly394=) c.1278T>C (p.Gly426=) c.*226T>C (n.*226T>C) n.1776T>C c.915T>C (p.Gly305=) c.1353T>C (p.Gly451=) c.1266T>C (p.Gly422=) c.1218T>C (p.Gly406=) c.930T>C (p.Gly310=) c.1365T>C (p.Gly455=) c.1350T>C (p.Gly450=) | gnomAD v4 |
| 8 | g.71216771A>T | CA461433994 | EYA1 | c.1281T>A (p.Gly427=) c.1179T>A (p.Gly393=) c.1176T>A (p.Gly392=) c.*560T>A (n.*560T>A) c.671T>A n.1744T>A c.*958T>A (n.*958T>A) c.1368T>A (p.Gly456=) c.1263T>A (p.Gly421=) n.351T>A c.1260T>A (p.Gly420=) c.1182T>A (p.Gly394=) c.1278T>A (p.Gly426=) c.*226T>A (n.*226T>A) n.1776T>A c.915T>A (p.Gly305=) c.1353T>A (p.Gly451=) c.1266T>A (p.Gly422=) c.1218T>A (p.Gly406=) c.930T>A (p.Gly310=) c.1365T>A (p.Gly455=) c.1350T>A (p.Gly450=) | |
| 8 | g.71216772C>A | CA371466744 | EYA1 | c.1280G>T (p.Gly427Val) c.1178G>T (p.Gly393Val) c.1175G>T (p.Gly392Val) c.*559G>T (n.*559G>T) c.670G>T n.1743G>T c.*957G>T (n.*957G>T) c.1367G>T (p.Gly456Val) c.1262G>T (p.Gly421Val) n.350G>T c.1259G>T (p.Gly420Val) c.1181G>T (p.Gly394Val) c.1277G>T (p.Gly426Val) c.*225G>T (n.*225G>T) n.1775G>T c.914G>T (p.Gly305Val) c.1352G>T (p.Gly451Val) c.1265G>T (p.Gly422Val) c.1217G>T (p.Gly406Val) c.929G>T (p.Gly310Val) c.1364G>T (p.Gly455Val) c.1349G>T (p.Gly450Val) | |
| 8 | g.71216772C= | CA1792692831 | EYA1 | c.1280G= (p.Gly427=) c.1178G= (p.Gly393=) c.1175G= (p.Gly392=) c.*559G= (n.*559G=) c.670G= n.1743G= c.*957G= (n.*957G=) c.1367G= (p.Gly456=) c.1262G= (p.Gly421=) n.350G= c.1259G= (p.Gly420=) c.1181G= (p.Gly394=) c.1277G= (p.Gly426=) c.*225G= (n.*225G=) n.1775G= c.914G= (p.Gly305=) c.1352G= (p.Gly451=) c.1265G= (p.Gly422=) c.1217G= (p.Gly406=) c.929G= (p.Gly310=) c.1364G= (p.Gly455=) c.1349G= (p.Gly450=) | |
| 8 | g.71216772C>G | CA371466745 | EYA1 | c.1280G>C (p.Gly427Ala) c.1178G>C (p.Gly393Ala) c.1175G>C (p.Gly392Ala) c.*559G>C (n.*559G>C) c.670G>C n.1743G>C c.*957G>C (n.*957G>C) c.1367G>C (p.Gly456Ala) c.1262G>C (p.Gly421Ala) n.350G>C c.1259G>C (p.Gly420Ala) c.1181G>C (p.Gly394Ala) c.1277G>C (p.Gly426Ala) c.*225G>C (n.*225G>C) n.1775G>C c.914G>C (p.Gly305Ala) c.1352G>C (p.Gly451Ala) c.1265G>C (p.Gly422Ala) c.1217G>C (p.Gly406Ala) c.929G>C (p.Gly310Ala) c.1364G>C (p.Gly455Ala) c.1349G>C (p.Gly450Ala) | |
| 8 | g.71216772C>T | CA4779506 | EYA1 | c.1280G>A (p.Gly427Asp) c.1178G>A (p.Gly393Asp) c.1175G>A (p.Gly392Asp) c.*559G>A (n.*559G>A) c.670G>A n.1743G>A c.*957G>A (n.*957G>A) c.1367G>A (p.Gly456Asp) c.1262G>A (p.Gly421Asp) n.350G>A c.1259G>A (p.Gly420Asp) c.1181G>A (p.Gly394Asp) c.1277G>A (p.Gly426Asp) c.*225G>A (n.*225G>A) n.1775G>A c.914G>A (p.Gly305Asp) c.1352G>A (p.Gly451Asp) c.1265G>A (p.Gly422Asp) c.1217G>A (p.Gly406Asp) c.929G>A (p.Gly310Asp) c.1364G>A (p.Gly455Asp) c.1349G>A (p.Gly450Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216773_71216774insCCC | CA2695209874 | EYA1 | c.1280_1281insGGG (p.Gly427_Val428insGly) c.1178_1179insGGG (p.Gly393_Val394insGly) c.1175_1176insGGG (p.Gly392_Val393insGly) c.*559_*560insGGG (n.*559_*560insGGG) c.670_671insGGG n.1743_1744insGGG c.*957_*958insGGG (n.*957_*958insGGG) c.1367_1368insGGG (p.Gly456_Val457insGly) c.1262_1263insGGG (p.Gly421_Val422insGly) n.350_351insGGG c.1259_1260insGGG (p.Gly420_Val421insGly) c.1181_1182insGGG (p.Gly394_Val395insGly) c.1277_1278insGGG (p.Gly426_Val427insGly) c.*225_*226insGGG (n.*225_*226insGGG) n.1775_1776insGGG c.914_915insGGG (p.Gly305_Val306insGly) c.1352_1353insGGG (p.Gly451_Val452insGly) c.1265_1266insGGG (p.Gly422_Val423insGly) c.1217_1218insGGG (p.Gly406_Val407insGly) c.929_930insGGG (p.Gly310_Val311insGly) c.1364_1365insGGG (p.Gly455_Val456insGly) c.1349_1350insGGG (p.Gly450_Val451insGly) | |
| 8 | g.71216773C>A | CA371466746 | EYA1 | c.1279G>T (p.Gly427Cys) c.1177G>T (p.Gly393Cys) c.1174G>T (p.Gly392Cys) c.*558G>T (n.*558G>T) c.669G>T n.1742G>T c.*956G>T (n.*956G>T) c.1366G>T (p.Gly456Cys) c.1261G>T (p.Gly421Cys) n.349G>T c.1258G>T (p.Gly420Cys) c.1180G>T (p.Gly394Cys) c.1276G>T (p.Gly426Cys) c.*224G>T (n.*224G>T) n.1774G>T c.913G>T (p.Gly305Cys) c.1351G>T (p.Gly451Cys) c.1264G>T (p.Gly422Cys) c.1216G>T (p.Gly406Cys) c.928G>T (p.Gly310Cys) c.1363G>T (p.Gly455Cys) c.1348G>T (p.Gly450Cys) | |
| 8 | g.71216773C= | CA1792692834 | EYA1 | c.1279G= (p.Gly427=) c.1177G= (p.Gly393=) c.1174G= (p.Gly392=) c.*558G= (n.*558G=) c.669G= n.1742G= c.*956G= (n.*956G=) c.1366G= (p.Gly456=) c.1261G= (p.Gly421=) n.349G= c.1258G= (p.Gly420=) c.1180G= (p.Gly394=) c.1276G= (p.Gly426=) c.*224G= (n.*224G=) n.1774G= c.913G= (p.Gly305=) c.1351G= (p.Gly451=) c.1264G= (p.Gly422=) c.1216G= (p.Gly406=) c.928G= (p.Gly310=) c.1363G= (p.Gly455=) c.1348G= (p.Gly450=) | |
| 8 | g.71216773C>G | CA371466747 | EYA1 | c.1279G>C (p.Gly427Arg) c.1177G>C (p.Gly393Arg) c.1174G>C (p.Gly392Arg) c.*558G>C (n.*558G>C) c.669G>C n.1742G>C c.*956G>C (n.*956G>C) c.1366G>C (p.Gly456Arg) c.1261G>C (p.Gly421Arg) n.349G>C c.1258G>C (p.Gly420Arg) c.1180G>C (p.Gly394Arg) c.1276G>C (p.Gly426Arg) c.*224G>C (n.*224G>C) n.1774G>C c.913G>C (p.Gly305Arg) c.1351G>C (p.Gly451Arg) c.1264G>C (p.Gly422Arg) c.1216G>C (p.Gly406Arg) c.928G>C (p.Gly310Arg) c.1363G>C (p.Gly455Arg) c.1348G>C (p.Gly450Arg) | |
| 8 | g.71216773C>T | CA4779507 | EYA1 | c.1279G>A (p.Gly427Ser) c.1177G>A (p.Gly393Ser) c.1174G>A (p.Gly392Ser) c.*558G>A (n.*558G>A) c.669G>A n.1742G>A c.*956G>A (n.*956G>A) c.1366G>A (p.Gly456Ser) c.1261G>A (p.Gly421Ser) n.349G>A c.1258G>A (p.Gly420Ser) c.1180G>A (p.Gly394Ser) c.1276G>A (p.Gly426Ser) c.*224G>A (n.*224G>A) n.1774G>A c.913G>A (p.Gly305Ser) c.1351G>A (p.Gly451Ser) c.1264G>A (p.Gly422Ser) c.1216G>A (p.Gly406Ser) c.928G>A (p.Gly310Ser) c.1363G>A (p.Gly455Ser) c.1348G>A (p.Gly450Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216774G>A | CA142599 | EYA1 | c.1278C>T (p.Gly426=) c.1176C>T (p.Gly392=) c.1173C>T (p.Gly391=) c.*557C>T (n.*557C>T) c.668C>T n.1741C>T c.*955C>T (n.*955C>T) c.1365C>T (p.Gly455=) c.1260C>T (p.Gly420=) n.348C>T c.1257C>T (p.Gly419=) c.1179C>T (p.Gly393=) c.1275C>T (p.Gly425=) c.*223C>T (n.*223C>T) n.1773C>T c.912C>T (p.Gly304=) c.1350C>T (p.Gly450=) c.1263C>T (p.Gly421=) c.1215C>T (p.Gly405=) c.927C>T (p.Gly309=) c.1362C>T (p.Gly454=) c.1347C>T (p.Gly449=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216774G>C | CA461434003 | EYA1 | c.1278C>G (p.Gly426=) c.1176C>G (p.Gly392=) c.1173C>G (p.Gly391=) c.*557C>G (n.*557C>G) c.668C>G n.1741C>G c.*955C>G (n.*955C>G) c.1365C>G (p.Gly455=) c.1260C>G (p.Gly420=) n.348C>G c.1257C>G (p.Gly419=) c.1179C>G (p.Gly393=) c.1275C>G (p.Gly425=) c.*223C>G (n.*223C>G) n.1773C>G c.912C>G (p.Gly304=) c.1350C>G (p.Gly450=) c.1263C>G (p.Gly421=) c.1215C>G (p.Gly405=) c.927C>G (p.Gly309=) c.1362C>G (p.Gly454=) c.1347C>G (p.Gly449=) | |
| 8 | g.71216774G= | CA1792692841 | EYA1 | c.1278C= (p.Gly426=) c.1176C= (p.Gly392=) c.1173C= (p.Gly391=) c.*557C= (n.*557C=) c.668C= n.1741C= c.*955C= (n.*955C=) c.1365C= (p.Gly455=) c.1260C= (p.Gly420=) n.348C= c.1257C= (p.Gly419=) c.1179C= (p.Gly393=) c.1275C= (p.Gly425=) c.*223C= (n.*223C=) n.1773C= c.912C= (p.Gly304=) c.1350C= (p.Gly450=) c.1263C= (p.Gly421=) c.1215C= (p.Gly405=) c.927C= (p.Gly309=) c.1362C= (p.Gly454=) c.1347C= (p.Gly449=) | |
| 8 | g.71216774G>T | CA461434004 | EYA1 | c.1278C>A (p.Gly426=) c.1176C>A (p.Gly392=) c.1173C>A (p.Gly391=) c.*557C>A (n.*557C>A) c.668C>A n.1741C>A c.*955C>A (n.*955C>A) c.1365C>A (p.Gly455=) c.1260C>A (p.Gly420=) n.348C>A c.1257C>A (p.Gly419=) c.1179C>A (p.Gly393=) c.1275C>A (p.Gly425=) c.*223C>A (n.*223C>A) n.1773C>A c.912C>A (p.Gly304=) c.1350C>A (p.Gly450=) c.1263C>A (p.Gly421=) c.1215C>A (p.Gly405=) c.927C>A (p.Gly309=) c.1362C>A (p.Gly454=) c.1347C>A (p.Gly449=) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71216775C>A | CA371466748 | EYA1 | c.1277G>T (p.Gly426Val) c.1175G>T (p.Gly392Val) c.1172G>T (p.Gly391Val) c.*556G>T (n.*556G>T) c.667G>T n.1740G>T c.*954G>T (n.*954G>T) c.1364G>T (p.Gly455Val) c.1259G>T (p.Gly420Val) n.347G>T c.1256G>T (p.Gly419Val) c.1178G>T (p.Gly393Val) c.1274G>T (p.Gly425Val) c.*222G>T (n.*222G>T) n.1772G>T c.911G>T (p.Gly304Val) c.1349G>T (p.Gly450Val) c.1262G>T (p.Gly421Val) c.1214G>T (p.Gly405Val) c.926G>T (p.Gly309Val) c.1361G>T (p.Gly454Val) c.1346G>T (p.Gly449Val) | |
| 8 | g.71216775C= | CA1792692847 | EYA1 | c.1277G= (p.Gly426=) c.1175G= (p.Gly392=) c.1172G= (p.Gly391=) c.*556G= (n.*556G=) c.667G= n.1740G= c.*954G= (n.*954G=) c.1364G= (p.Gly455=) c.1259G= (p.Gly420=) n.347G= c.1256G= (p.Gly419=) c.1178G= (p.Gly393=) c.1274G= (p.Gly425=) c.*222G= (n.*222G=) n.1772G= c.911G= (p.Gly304=) c.1349G= (p.Gly450=) c.1262G= (p.Gly421=) c.1214G= (p.Gly405=) c.926G= (p.Gly309=) c.1361G= (p.Gly454=) c.1346G= (p.Gly449=) | |
| 8 | g.71216775C>G | CA371466749 | EYA1 | c.1277G>C (p.Gly426Ala) c.1175G>C (p.Gly392Ala) c.1172G>C (p.Gly391Ala) c.*556G>C (n.*556G>C) c.667G>C n.1740G>C c.*954G>C (n.*954G>C) c.1364G>C (p.Gly455Ala) c.1259G>C (p.Gly420Ala) n.347G>C c.1256G>C (p.Gly419Ala) c.1178G>C (p.Gly393Ala) c.1274G>C (p.Gly425Ala) c.*222G>C (n.*222G>C) n.1772G>C c.911G>C (p.Gly304Ala) c.1349G>C (p.Gly450Ala) c.1262G>C (p.Gly421Ala) c.1214G>C (p.Gly405Ala) c.926G>C (p.Gly309Ala) c.1361G>C (p.Gly454Ala) c.1346G>C (p.Gly449Ala) | dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.71216775C>T | CA371466750 | EYA1 | c.1277G>A (p.Gly426Asp) c.1175G>A (p.Gly392Asp) c.1172G>A (p.Gly391Asp) c.*556G>A (n.*556G>A) c.667G>A n.1740G>A c.*954G>A (n.*954G>A) c.1364G>A (p.Gly455Asp) c.1259G>A (p.Gly420Asp) n.347G>A c.1256G>A (p.Gly419Asp) c.1178G>A (p.Gly393Asp) c.1274G>A (p.Gly425Asp) c.*222G>A (n.*222G>A) n.1772G>A c.911G>A (p.Gly304Asp) c.1349G>A (p.Gly450Asp) c.1262G>A (p.Gly421Asp) c.1214G>A (p.Gly405Asp) c.926G>A (p.Gly309Asp) c.1361G>A (p.Gly454Asp) c.1346G>A (p.Gly449Asp) | |
| 8 | g.71216776C>A | CA371466751 | EYA1 | c.1276G>T (p.Gly426Cys) c.1174G>T (p.Gly392Cys) c.1171G>T (p.Gly391Cys) c.*555G>T (n.*555G>T) c.666G>T n.1739G>T c.*953G>T (n.*953G>T) c.1363G>T (p.Gly455Cys) c.1258G>T (p.Gly420Cys) n.346G>T c.1255G>T (p.Gly419Cys) c.1177G>T (p.Gly393Cys) c.1273G>T (p.Gly425Cys) c.*221G>T (n.*221G>T) n.1771G>T c.910G>T (p.Gly304Cys) c.1348G>T (p.Gly450Cys) c.1261G>T (p.Gly421Cys) c.1213G>T (p.Gly405Cys) c.925G>T (p.Gly309Cys) c.1360G>T (p.Gly454Cys) c.1345G>T (p.Gly449Cys) | |
| 8 | g.71216776C= | CA1792692850 | EYA1 | c.1276G= (p.Gly426=) c.1174G= (p.Gly392=) c.1171G= (p.Gly391=) c.*555G= (n.*555G=) c.666G= n.1739G= c.*953G= (n.*953G=) c.1363G= (p.Gly455=) c.1258G= (p.Gly420=) n.346G= c.1255G= (p.Gly419=) c.1177G= (p.Gly393=) c.1273G= (p.Gly425=) c.*221G= (n.*221G=) n.1771G= c.910G= (p.Gly304=) c.1348G= (p.Gly450=) c.1261G= (p.Gly421=) c.1213G= (p.Gly405=) c.925G= (p.Gly309=) c.1360G= (p.Gly454=) c.1345G= (p.Gly449=) | |
| 8 | g.71216776C>G | CA371466752 | EYA1 | c.1276G>C (p.Gly426Arg) c.1174G>C (p.Gly392Arg) c.1171G>C (p.Gly391Arg) c.*555G>C (n.*555G>C) c.666G>C n.1739G>C c.*953G>C (n.*953G>C) c.1363G>C (p.Gly455Arg) c.1258G>C (p.Gly420Arg) n.346G>C c.1255G>C (p.Gly419Arg) c.1177G>C (p.Gly393Arg) c.1273G>C (p.Gly425Arg) c.*221G>C (n.*221G>C) n.1771G>C c.910G>C (p.Gly304Arg) c.1348G>C (p.Gly450Arg) c.1261G>C (p.Gly421Arg) c.1213G>C (p.Gly405Arg) c.925G>C (p.Gly309Arg) c.1360G>C (p.Gly454Arg) c.1345G>C (p.Gly449Arg) | |
| 8 | g.71216776C>T | CA119167 | EYA1 | c.1276G>A (p.Gly426Ser) c.1174G>A (p.Gly392Ser) c.1171G>A (p.Gly391Ser) c.*555G>A (n.*555G>A) c.666G>A n.1739G>A c.*953G>A (n.*953G>A) c.1363G>A (p.Gly455Ser) c.1258G>A (p.Gly420Ser) n.346G>A c.1255G>A (p.Gly419Ser) c.1177G>A (p.Gly393Ser) c.1273G>A (p.Gly425Ser) c.*221G>A (n.*221G>A) n.1771G>A c.910G>A (p.Gly304Ser) c.1348G>A (p.Gly450Ser) c.1261G>A (p.Gly421Ser) c.1213G>A (p.Gly405Ser) c.925G>A (p.Gly309Ser) c.1360G>A (p.Gly454Ser) c.1345G>A (p.Gly449Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216777C>A | CA461434016 | EYA1 | c.1275G>T (p.Arg425=) c.1173G>T (p.Arg391=) c.1170G>T (p.Arg390=) c.*554G>T (n.*554G>T) c.665G>T n.1738G>T c.*952G>T (n.*952G>T) c.1362G>T (p.Arg454=) c.1257G>T (p.Arg419=) n.345G>T c.1254G>T (p.Arg418=) c.1176G>T (p.Arg392=) c.1272G>T (p.Arg424=) c.*220G>T (n.*220G>T) n.1770G>T c.909G>T (p.Arg303=) c.1347G>T (p.Arg449=) c.1260G>T (p.Arg420=) c.1212G>T (p.Arg404=) c.924G>T (p.Arg308=) c.1359G>T (p.Arg453=) c.1344G>T (p.Arg448=) | |
| 8 | g.71216777C>G | CA461434018 | EYA1 | c.1275G>C (p.Arg425=) c.1173G>C (p.Arg391=) c.1170G>C (p.Arg390=) c.*554G>C (n.*554G>C) c.665G>C n.1738G>C c.*952G>C (n.*952G>C) c.1362G>C (p.Arg454=) c.1257G>C (p.Arg419=) n.345G>C c.1254G>C (p.Arg418=) c.1176G>C (p.Arg392=) c.1272G>C (p.Arg424=) c.*220G>C (n.*220G>C) n.1770G>C c.909G>C (p.Arg303=) c.1347G>C (p.Arg449=) c.1260G>C (p.Arg420=) c.1212G>C (p.Arg404=) c.924G>C (p.Arg308=) c.1359G>C (p.Arg453=) c.1344G>C (p.Arg448=) | COSMIC COSMIC |
| 8 | g.71216777C>T | CA461434017 | EYA1 | c.1275G>A (p.Arg425=) c.1173G>A (p.Arg391=) c.1170G>A (p.Arg390=) c.*554G>A (n.*554G>A) c.665G>A n.1738G>A c.*952G>A (n.*952G>A) c.1362G>A (p.Arg454=) c.1257G>A (p.Arg419=) n.345G>A c.1254G>A (p.Arg418=) c.1176G>A (p.Arg392=) c.1272G>A (p.Arg424=) c.*220G>A (n.*220G>A) n.1770G>A c.909G>A (p.Arg303=) c.1347G>A (p.Arg449=) c.1260G>A (p.Arg420=) c.1212G>A (p.Arg404=) c.924G>A (p.Arg308=) c.1359G>A (p.Arg453=) c.1344G>A (p.Arg448=) | |
| 8 | g.71216778C>A | CA371466754 | EYA1 | c.1274G>T (p.Arg425Leu) c.1172G>T (p.Arg391Leu) c.1169G>T (p.Arg390Leu) c.*553G>T (n.*553G>T) c.664G>T n.1737G>T c.*951G>T (n.*951G>T) c.1361G>T (p.Arg454Leu) c.1256G>T (p.Arg419Leu) n.344G>T c.1253G>T (p.Arg418Leu) c.1175G>T (p.Arg392Leu) c.1271G>T (p.Arg424Leu) c.*219G>T (n.*219G>T) n.1769G>T c.908G>T (p.Arg303Leu) c.1346G>T (p.Arg449Leu) c.1259G>T (p.Arg420Leu) c.1211G>T (p.Arg404Leu) c.923G>T (p.Arg308Leu) c.1358G>T (p.Arg453Leu) c.1343G>T (p.Arg448Leu) | |
| 8 | g.71216778C= | CA1792692854 | EYA1 | c.1274G= (p.Arg425=) c.1172G= (p.Arg391=) c.1169G= (p.Arg390=) c.*553G= (n.*553G=) c.664G= n.1737G= c.*951G= (n.*951G=) c.1361G= (p.Arg454=) c.1256G= (p.Arg419=) n.344G= c.1253G= (p.Arg418=) c.1175G= (p.Arg392=) c.1271G= (p.Arg424=) c.*219G= (n.*219G=) n.1769G= c.908G= (p.Arg303=) c.1346G= (p.Arg449=) c.1259G= (p.Arg420=) c.1211G= (p.Arg404=) c.923G= (p.Arg308=) c.1358G= (p.Arg453=) c.1343G= (p.Arg448=) | |
| 8 | g.71216778C>G | CA371466753 | EYA1 | c.1274G>C (p.Arg425Pro) c.1172G>C (p.Arg391Pro) c.1169G>C (p.Arg390Pro) c.*553G>C (n.*553G>C) c.664G>C n.1737G>C c.*951G>C (n.*951G>C) c.1361G>C (p.Arg454Pro) c.1256G>C (p.Arg419Pro) n.344G>C c.1253G>C (p.Arg418Pro) c.1175G>C (p.Arg392Pro) c.1271G>C (p.Arg424Pro) c.*219G>C (n.*219G>C) n.1769G>C c.908G>C (p.Arg303Pro) c.1346G>C (p.Arg449Pro) c.1259G>C (p.Arg420Pro) c.1211G>C (p.Arg404Pro) c.923G>C (p.Arg308Pro) c.1358G>C (p.Arg453Pro) c.1343G>C (p.Arg448Pro) | |
| 8 | g.71216778C>T | CA4779508 | EYA1 | c.1274G>A (p.Arg425Gln) c.1172G>A (p.Arg391Gln) c.1169G>A (p.Arg390Gln) c.*553G>A (n.*553G>A) c.664G>A n.1737G>A c.*951G>A (n.*951G>A) c.1361G>A (p.Arg454Gln) c.1256G>A (p.Arg419Gln) n.344G>A c.1253G>A (p.Arg418Gln) c.1175G>A (p.Arg392Gln) c.1271G>A (p.Arg424Gln) c.*219G>A (n.*219G>A) n.1769G>A c.908G>A (p.Arg303Gln) c.1346G>A (p.Arg449Gln) c.1259G>A (p.Arg420Gln) c.1211G>A (p.Arg404Gln) c.923G>A (p.Arg308Gln) c.1358G>A (p.Arg453Gln) c.1343G>A (p.Arg448Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 8 | g.71216779G>A | CA4779509 | EYA1 | c.1273C>T (p.Arg425Trp) c.1171C>T (p.Arg391Trp) c.1168C>T (p.Arg390Trp) c.*552C>T (n.*552C>T) c.663C>T n.1736C>T c.*950C>T (n.*950C>T) c.1360C>T (p.Arg454Trp) c.1255C>T (p.Arg419Trp) n.343C>T c.1252C>T (p.Arg418Trp) c.1174C>T (p.Arg392Trp) c.1270C>T (p.Arg424Trp) c.*218C>T (n.*218C>T) n.1768C>T c.907C>T (p.Arg303Trp) c.1345C>T (p.Arg449Trp) c.1258C>T (p.Arg420Trp) c.1210C>T (p.Arg404Trp) c.922C>T (p.Arg308Trp) c.1357C>T (p.Arg453Trp) c.1342C>T (p.Arg448Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216779G>C | CA371466755 | EYA1 | c.1273C>G (p.Arg425Gly) c.1171C>G (p.Arg391Gly) c.1168C>G (p.Arg390Gly) c.*552C>G (n.*552C>G) c.663C>G n.1736C>G c.*950C>G (n.*950C>G) c.1360C>G (p.Arg454Gly) c.1255C>G (p.Arg419Gly) n.343C>G c.1252C>G (p.Arg418Gly) c.1174C>G (p.Arg392Gly) c.1270C>G (p.Arg424Gly) c.*218C>G (n.*218C>G) n.1768C>G c.907C>G (p.Arg303Gly) c.1345C>G (p.Arg449Gly) c.1258C>G (p.Arg420Gly) c.1210C>G (p.Arg404Gly) c.922C>G (p.Arg308Gly) c.1357C>G (p.Arg453Gly) c.1342C>G (p.Arg448Gly) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216779G= | CA1792692858 | EYA1 | c.1273C= (p.Arg425=) c.1171C= (p.Arg391=) c.1168C= (p.Arg390=) c.*552C= (n.*552C=) c.663C= n.1736C= c.*950C= (n.*950C=) c.1360C= (p.Arg454=) c.1255C= (p.Arg419=) n.343C= c.1252C= (p.Arg418=) c.1174C= (p.Arg392=) c.1270C= (p.Arg424=) c.*218C= (n.*218C=) n.1768C= c.907C= (p.Arg303=) c.1345C= (p.Arg449=) c.1258C= (p.Arg420=) c.1210C= (p.Arg404=) c.922C= (p.Arg308=) c.1357C= (p.Arg453=) c.1342C= (p.Arg448=) | |
| 8 | g.71216779G>T | CA461434031 | EYA1 | c.1273C>A (p.Arg425=) c.1171C>A (p.Arg391=) c.1168C>A (p.Arg390=) c.*552C>A (n.*552C>A) c.663C>A n.1736C>A c.*950C>A (n.*950C>A) c.1360C>A (p.Arg454=) c.1255C>A (p.Arg419=) n.343C>A c.1252C>A (p.Arg418=) c.1174C>A (p.Arg392=) c.1270C>A (p.Arg424=) c.*218C>A (n.*218C>A) n.1768C>A c.907C>A (p.Arg303=) c.1345C>A (p.Arg449=) c.1258C>A (p.Arg420=) c.1210C>A (p.Arg404=) c.922C>A (p.Arg308=) c.1357C>A (p.Arg453=) c.1342C>A (p.Arg448=) | |
| 8 | g.71216780T>A | CA461434032 | EYA1 | c.1272A>T (p.Val424=) c.1170A>T (p.Val390=) c.1167A>T (p.Val389=) c.*551A>T (n.*551A>T) c.662A>T n.1735A>T c.*949A>T (n.*949A>T) c.1359A>T (p.Val453=) c.1254A>T (p.Val418=) n.342A>T c.1251A>T (p.Val417=) c.1173A>T (p.Val391=) c.1269A>T (p.Val423=) c.*217A>T (n.*217A>T) n.1767A>T c.906A>T (p.Val302=) c.1344A>T (p.Val448=) c.1257A>T (p.Val419=) c.1209A>T (p.Val403=) c.921A>T (p.Val307=) c.1356A>T (p.Val452=) c.1341A>T (p.Val447=) | |
| 8 | g.71216780T>C | CA461434033 | EYA1 | c.1272A>G (p.Val424=) c.1170A>G (p.Val390=) c.1167A>G (p.Val389=) c.*551A>G (n.*551A>G) c.662A>G n.1735A>G c.*949A>G (n.*949A>G) c.1359A>G (p.Val453=) c.1254A>G (p.Val418=) n.342A>G c.1251A>G (p.Val417=) c.1173A>G (p.Val391=) c.1269A>G (p.Val423=) c.*217A>G (n.*217A>G) n.1767A>G c.906A>G (p.Val302=) c.1344A>G (p.Val448=) c.1257A>G (p.Val419=) c.1209A>G (p.Val403=) c.921A>G (p.Val307=) c.1356A>G (p.Val452=) c.1341A>G (p.Val447=) | |
| 8 | g.71216780T>G | CA461434034 | EYA1 | c.1272A>C (p.Val424=) c.1170A>C (p.Val390=) c.1167A>C (p.Val389=) c.*551A>C (n.*551A>C) c.662A>C n.1735A>C c.*949A>C (n.*949A>C) c.1359A>C (p.Val453=) c.1254A>C (p.Val418=) n.342A>C c.1251A>C (p.Val417=) c.1173A>C (p.Val391=) c.1269A>C (p.Val423=) c.*217A>C (n.*217A>C) n.1767A>C c.906A>C (p.Val302=) c.1344A>C (p.Val448=) c.1257A>C (p.Val419=) c.1209A>C (p.Val403=) c.921A>C (p.Val307=) c.1356A>C (p.Val452=) c.1341A>C (p.Val447=) | |
| 8 | g.71216780dup | CA2573143310 | EYA1 | c.1272dup (p.Arg425ThrfsTer27) c.1170dup (p.Arg391ThrfsTer27) c.1167dup (p.Arg390ThrfsTer27) c.*551dup (n.*551dup) c.662dup n.1735dup c.*949dup (n.*949dup) c.1359dup (p.Arg454ThrfsTer27) c.1254dup (p.Arg419ThrfsTer27) n.342dup c.1251dup (p.Arg418ThrfsTer27) c.1173dup (p.Arg392ThrfsTer27) c.1269dup (p.Arg424ThrfsTer27) c.*217dup (n.*217dup) n.1767dup c.906dup (p.Arg303ThrfsTer27) c.1344dup (p.Arg449ThrfsTer27) c.1257dup (p.Arg420ThrfsTer27) c.1209dup (p.Arg404ThrfsTer27) c.921dup (p.Arg308ThrfsTer27) c.1356dup (p.Arg453ThrfsTer27) c.1341dup (p.Arg448ThrfsTer27) | ClinVar dbSNP |
| 8 | g.71216781A>C | CA371466756 | EYA1 | c.1271T>G (p.Val424Gly) c.1169T>G (p.Val390Gly) c.1166T>G (p.Val389Gly) c.*550T>G (n.*550T>G) c.661T>G n.1734T>G c.*948T>G (n.*948T>G) c.1358T>G (p.Val453Gly) c.1253T>G (p.Val418Gly) n.341T>G c.1250T>G (p.Val417Gly) c.1172T>G (p.Val391Gly) c.1268T>G (p.Val423Gly) c.*216T>G (n.*216T>G) n.1766T>G c.905T>G (p.Val302Gly) c.1343T>G (p.Val448Gly) c.1256T>G (p.Val419Gly) c.1208T>G (p.Val403Gly) c.920T>G (p.Val307Gly) c.1355T>G (p.Val452Gly) c.1340T>G (p.Val447Gly) | |
| 8 | g.71216781A>G | CA371466757 | EYA1 | c.1271T>C (p.Val424Ala) c.1169T>C (p.Val390Ala) c.1166T>C (p.Val389Ala) c.*550T>C (n.*550T>C) c.661T>C n.1734T>C c.*948T>C (n.*948T>C) c.1358T>C (p.Val453Ala) c.1253T>C (p.Val418Ala) n.341T>C c.1250T>C (p.Val417Ala) c.1172T>C (p.Val391Ala) c.1268T>C (p.Val423Ala) c.*216T>C (n.*216T>C) n.1766T>C c.905T>C (p.Val302Ala) c.1343T>C (p.Val448Ala) c.1256T>C (p.Val419Ala) c.1208T>C (p.Val403Ala) c.920T>C (p.Val307Ala) c.1355T>C (p.Val452Ala) c.1340T>C (p.Val447Ala) | |
| 8 | g.71216781A>T | CA371466758 | EYA1 | c.1271T>A (p.Val424Glu) c.1169T>A (p.Val390Glu) c.1166T>A (p.Val389Glu) c.*550T>A (n.*550T>A) c.661T>A n.1734T>A c.*948T>A (n.*948T>A) c.1358T>A (p.Val453Glu) c.1253T>A (p.Val418Glu) n.341T>A c.1250T>A (p.Val417Glu) c.1172T>A (p.Val391Glu) c.1268T>A (p.Val423Glu) c.*216T>A (n.*216T>A) n.1766T>A c.905T>A (p.Val302Glu) c.1343T>A (p.Val448Glu) c.1256T>A (p.Val419Glu) c.1208T>A (p.Val403Glu) c.920T>A (p.Val307Glu) c.1355T>A (p.Val452Glu) c.1340T>A (p.Val447Glu) | |
| 8 | g.71216782C>A | CA371466759 | EYA1 | c.1270G>T (p.Val424Leu) c.1168G>T (p.Val390Leu) c.1165G>T (p.Val389Leu) c.*549G>T (n.*549G>T) c.660G>T n.1733G>T c.*947G>T (n.*947G>T) c.1357G>T (p.Val453Leu) c.1252G>T (p.Val418Leu) n.340G>T c.1249G>T (p.Val417Leu) c.1171G>T (p.Val391Leu) c.1267G>T (p.Val423Leu) c.*215G>T (n.*215G>T) n.1765G>T c.904G>T (p.Val302Leu) c.1342G>T (p.Val448Leu) c.1255G>T (p.Val419Leu) c.1207G>T (p.Val403Leu) c.919G>T (p.Val307Leu) c.1354G>T (p.Val452Leu) c.1339G>T (p.Val447Leu) | |
| 8 | g.71216782C= | CA1792692863 | EYA1 | c.1270G= (p.Val424=) c.1168G= (p.Val390=) c.1165G= (p.Val389=) c.*549G= (n.*549G=) c.660G= n.1733G= c.*947G= (n.*947G=) c.1357G= (p.Val453=) c.1252G= (p.Val418=) n.340G= c.1249G= (p.Val417=) c.1171G= (p.Val391=) c.1267G= (p.Val423=) c.*215G= (n.*215G=) n.1765G= c.904G= (p.Val302=) c.1342G= (p.Val448=) c.1255G= (p.Val419=) c.1207G= (p.Val403=) c.919G= (p.Val307=) c.1354G= (p.Val452=) c.1339G= (p.Val447=) | |
| 8 | g.71216782C>G | CA371466760 | EYA1 | c.1270G>C (p.Val424Leu) c.1168G>C (p.Val390Leu) c.1165G>C (p.Val389Leu) c.*549G>C (n.*549G>C) c.660G>C n.1733G>C c.*947G>C (n.*947G>C) c.1357G>C (p.Val453Leu) c.1252G>C (p.Val418Leu) n.340G>C c.1249G>C (p.Val417Leu) c.1171G>C (p.Val391Leu) c.1267G>C (p.Val423Leu) c.*215G>C (n.*215G>C) n.1765G>C c.904G>C (p.Val302Leu) c.1342G>C (p.Val448Leu) c.1255G>C (p.Val419Leu) c.1207G>C (p.Val403Leu) c.919G>C (p.Val307Leu) c.1354G>C (p.Val452Leu) c.1339G>C (p.Val447Leu) | |
| 8 | g.71216782C>T | CA4779510 | EYA1 | c.1270G>A (p.Val424Ile) c.1168G>A (p.Val390Ile) c.1165G>A (p.Val389Ile) c.*549G>A (n.*549G>A) c.660G>A n.1733G>A c.*947G>A (n.*947G>A) c.1357G>A (p.Val453Ile) c.1252G>A (p.Val418Ile) n.340G>A c.1249G>A (p.Val417Ile) c.1171G>A (p.Val391Ile) c.1267G>A (p.Val423Ile) c.*215G>A (n.*215G>A) n.1765G>A c.904G>A (p.Val302Ile) c.1342G>A (p.Val448Ile) c.1255G>A (p.Val419Ile) c.1207G>A (p.Val403Ile) c.919G>A (p.Val307Ile) c.1354G>A (p.Val452Ile) c.1339G>A (p.Val447Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216783A>C | CA461434038 | EYA1 | c.1269T>G (p.Gly423=) c.1167T>G (p.Gly389=) c.1164T>G (p.Gly388=) c.*548T>G (n.*548T>G) c.659T>G n.1732T>G c.*946T>G (n.*946T>G) c.1356T>G (p.Gly452=) c.1251T>G (p.Gly417=) n.339T>G c.1248T>G (p.Gly416=) c.1170T>G (p.Gly390=) c.1266T>G (p.Gly422=) c.*214T>G (n.*214T>G) n.1764T>G c.903T>G (p.Gly301=) c.1341T>G (p.Gly447=) c.1254T>G (p.Gly418=) c.1206T>G (p.Gly402=) c.918T>G (p.Gly306=) c.1353T>G (p.Gly451=) c.1338T>G (p.Gly446=) | |
| 8 | g.71216783A>G | CA461434039 | EYA1 | c.1269T>C (p.Gly423=) c.1167T>C (p.Gly389=) c.1164T>C (p.Gly388=) c.*548T>C (n.*548T>C) c.659T>C n.1732T>C c.*946T>C (n.*946T>C) c.1356T>C (p.Gly452=) c.1251T>C (p.Gly417=) n.339T>C c.1248T>C (p.Gly416=) c.1170T>C (p.Gly390=) c.1266T>C (p.Gly422=) c.*214T>C (n.*214T>C) n.1764T>C c.903T>C (p.Gly301=) c.1341T>C (p.Gly447=) c.1254T>C (p.Gly418=) c.1206T>C (p.Gly402=) c.918T>C (p.Gly306=) c.1353T>C (p.Gly451=) c.1338T>C (p.Gly446=) | gnomAD v4 |
| 8 | g.71216783A>T | CA461434040 | EYA1 | c.1269T>A (p.Gly423=) c.1167T>A (p.Gly389=) c.1164T>A (p.Gly388=) c.*548T>A (n.*548T>A) c.659T>A n.1732T>A c.*946T>A (n.*946T>A) c.1356T>A (p.Gly452=) c.1251T>A (p.Gly417=) n.339T>A c.1248T>A (p.Gly416=) c.1170T>A (p.Gly390=) c.1266T>A (p.Gly422=) c.*214T>A (n.*214T>A) n.1764T>A c.903T>A (p.Gly301=) c.1341T>A (p.Gly447=) c.1254T>A (p.Gly418=) c.1206T>A (p.Gly402=) c.918T>A (p.Gly306=) c.1353T>A (p.Gly451=) c.1338T>A (p.Gly446=) | |
| 8 | g.71216784C>A | CA179210142 | EYA1 | c.1268G>T (p.Gly423Val) c.1166G>T (p.Gly389Val) c.1163G>T (p.Gly388Val) c.*547G>T (n.*547G>T) c.658G>T n.1731G>T c.*945G>T (n.*945G>T) c.1355G>T (p.Gly452Val) c.1250G>T (p.Gly417Val) n.338G>T c.1247G>T (p.Gly416Val) c.1169G>T (p.Gly390Val) c.1265G>T (p.Gly422Val) c.*213G>T (n.*213G>T) n.1763G>T c.902G>T (p.Gly301Val) c.1340G>T (p.Gly447Val) c.1253G>T (p.Gly418Val) c.1205G>T (p.Gly402Val) c.917G>T (p.Gly306Val) c.1352G>T (p.Gly451Val) c.1337G>T (p.Gly446Val) | dbSNP |
| 8 | g.71216784C= | CA1792692867 | EYA1 | c.1268G= (p.Gly423=) c.1166G= (p.Gly389=) c.1163G= (p.Gly388=) c.*547G= (n.*547G=) c.658G= n.1731G= c.*945G= (n.*945G=) c.1355G= (p.Gly452=) c.1250G= (p.Gly417=) n.338G= c.1247G= (p.Gly416=) c.1169G= (p.Gly390=) c.1265G= (p.Gly422=) c.*213G= (n.*213G=) n.1763G= c.902G= (p.Gly301=) c.1340G= (p.Gly447=) c.1253G= (p.Gly418=) c.1205G= (p.Gly402=) c.917G= (p.Gly306=) c.1352G= (p.Gly451=) c.1337G= (p.Gly446=) | |
| 8 | g.71216784C>G | CA4779511 | EYA1 | c.1268G>C (p.Gly423Ala) c.1166G>C (p.Gly389Ala) c.1163G>C (p.Gly388Ala) c.*547G>C (n.*547G>C) c.658G>C n.1731G>C c.*945G>C (n.*945G>C) c.1355G>C (p.Gly452Ala) c.1250G>C (p.Gly417Ala) n.338G>C c.1247G>C (p.Gly416Ala) c.1169G>C (p.Gly390Ala) c.1265G>C (p.Gly422Ala) c.*213G>C (n.*213G>C) n.1763G>C c.902G>C (p.Gly301Ala) c.1340G>C (p.Gly447Ala) c.1253G>C (p.Gly418Ala) c.1205G>C (p.Gly402Ala) c.917G>C (p.Gly306Ala) c.1352G>C (p.Gly451Ala) c.1337G>C (p.Gly446Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216784C>T | CA371466761 | EYA1 | c.1268G>A (p.Gly423Asp) c.1166G>A (p.Gly389Asp) c.1163G>A (p.Gly388Asp) c.*547G>A (n.*547G>A) c.658G>A n.1731G>A c.*945G>A (n.*945G>A) c.1355G>A (p.Gly452Asp) c.1250G>A (p.Gly417Asp) n.338G>A c.1247G>A (p.Gly416Asp) c.1169G>A (p.Gly390Asp) c.1265G>A (p.Gly422Asp) c.*213G>A (n.*213G>A) n.1763G>A c.902G>A (p.Gly301Asp) c.1340G>A (p.Gly447Asp) c.1253G>A (p.Gly418Asp) c.1205G>A (p.Gly402Asp) c.917G>A (p.Gly306Asp) c.1352G>A (p.Gly451Asp) c.1337G>A (p.Gly446Asp) | |
| 8 | g.71216785del | CA2695209875 | EYA1 | c.1268del (p.Gly423ValfsTer9) c.1166del (p.Gly389ValfsTer9) c.1163del (p.Gly388ValfsTer9) c.*547del (n.*547del) c.658del n.1731del c.*945del (n.*945del) c.1355del (p.Gly452ValfsTer9) c.1250del (p.Gly417ValfsTer9) n.338del c.1247del (p.Gly416ValfsTer9) c.1169del (p.Gly390ValfsTer9) c.1265del (p.Gly422ValfsTer9) c.*213del (n.*213del) n.1763del c.902del (p.Gly301ValfsTer9) c.1340del (p.Gly447ValfsTer9) c.1253del (p.Gly418ValfsTer9) c.1205del (p.Gly402ValfsTer9) c.917del (p.Gly306ValfsTer9) c.1352del (p.Gly451ValfsTer9) c.1337del (p.Gly446ValfsTer9) | |
| 8 | g.71216785C>A | CA371466764 | EYA1 | c.1267G>T (p.Gly423Cys) c.1165G>T (p.Gly389Cys) c.1162G>T (p.Gly388Cys) c.*546G>T (n.*546G>T) c.657G>T n.1730G>T c.*944G>T (n.*944G>T) c.1354G>T (p.Gly452Cys) c.1249G>T (p.Gly417Cys) n.337G>T c.1246G>T (p.Gly416Cys) c.1168G>T (p.Gly390Cys) c.1264G>T (p.Gly422Cys) c.*212G>T (n.*212G>T) n.1762G>T c.901G>T (p.Gly301Cys) c.1339G>T (p.Gly447Cys) c.1252G>T (p.Gly418Cys) c.1204G>T (p.Gly402Cys) c.916G>T (p.Gly306Cys) c.1351G>T (p.Gly451Cys) c.1336G>T (p.Gly446Cys) | |
| 8 | g.71216785C>G | CA371466763 | EYA1 | c.1267G>C (p.Gly423Arg) c.1165G>C (p.Gly389Arg) c.1162G>C (p.Gly388Arg) c.*546G>C (n.*546G>C) c.657G>C n.1730G>C c.*944G>C (n.*944G>C) c.1354G>C (p.Gly452Arg) c.1249G>C (p.Gly417Arg) n.337G>C c.1246G>C (p.Gly416Arg) c.1168G>C (p.Gly390Arg) c.1264G>C (p.Gly422Arg) c.*212G>C (n.*212G>C) n.1762G>C c.901G>C (p.Gly301Arg) c.1339G>C (p.Gly447Arg) c.1252G>C (p.Gly418Arg) c.1204G>C (p.Gly402Arg) c.916G>C (p.Gly306Arg) c.1351G>C (p.Gly451Arg) c.1336G>C (p.Gly446Arg) | |
| 8 | g.71216785C>T | CA371466762 | EYA1 | c.1267G>A (p.Gly423Ser) c.1165G>A (p.Gly389Ser) c.1162G>A (p.Gly388Ser) c.*546G>A (n.*546G>A) c.657G>A n.1730G>A c.*944G>A (n.*944G>A) c.1354G>A (p.Gly452Ser) c.1249G>A (p.Gly417Ser) n.337G>A c.1246G>A (p.Gly416Ser) c.1168G>A (p.Gly390Ser) c.1264G>A (p.Gly422Ser) c.*212G>A (n.*212G>A) n.1762G>A c.901G>A (p.Gly301Ser) c.1339G>A (p.Gly447Ser) c.1252G>A (p.Gly418Ser) c.1204G>A (p.Gly402Ser) c.916G>A (p.Gly306Ser) c.1351G>A (p.Gly451Ser) c.1336G>A (p.Gly446Ser) | |
| 8 | g.71216786A>C | CA461434043 | EYA1 | c.1266T>G (p.Thr422=) c.1164T>G (p.Thr388=) c.1161T>G (p.Thr387=) c.*545T>G (n.*545T>G) c.656T>G n.1729T>G c.*943T>G (n.*943T>G) c.1353T>G (p.Thr451=) c.1248T>G (p.Thr416=) n.336T>G c.1245T>G (p.Thr415=) c.1167T>G (p.Thr389=) c.1263T>G (p.Thr421=) c.*211T>G (n.*211T>G) n.1761T>G c.900T>G (p.Thr300=) c.1338T>G (p.Thr446=) c.1251T>G (p.Thr417=) c.1203T>G (p.Thr401=) c.915T>G (p.Thr305=) c.1350T>G (p.Thr450=) c.1335T>G (p.Thr445=) | |
| 8 | g.71216786A>G | CA461434045 | EYA1 | c.1266T>C (p.Thr422=) c.1164T>C (p.Thr388=) c.1161T>C (p.Thr387=) c.*545T>C (n.*545T>C) c.656T>C n.1729T>C c.*943T>C (n.*943T>C) c.1353T>C (p.Thr451=) c.1248T>C (p.Thr416=) n.336T>C c.1245T>C (p.Thr415=) c.1167T>C (p.Thr389=) c.1263T>C (p.Thr421=) c.*211T>C (n.*211T>C) n.1761T>C c.900T>C (p.Thr300=) c.1338T>C (p.Thr446=) c.1251T>C (p.Thr417=) c.1203T>C (p.Thr401=) c.915T>C (p.Thr305=) c.1350T>C (p.Thr450=) c.1335T>C (p.Thr445=) | |
| 8 | g.71216786A>T | CA461434048 | EYA1 | c.1266T>A (p.Thr422=) c.1164T>A (p.Thr388=) c.1161T>A (p.Thr387=) c.*545T>A (n.*545T>A) c.656T>A n.1729T>A c.*943T>A (n.*943T>A) c.1353T>A (p.Thr451=) c.1248T>A (p.Thr416=) n.336T>A c.1245T>A (p.Thr415=) c.1167T>A (p.Thr389=) c.1263T>A (p.Thr421=) c.*211T>A (n.*211T>A) n.1761T>A c.900T>A (p.Thr300=) c.1338T>A (p.Thr446=) c.1251T>A (p.Thr417=) c.1203T>A (p.Thr401=) c.915T>A (p.Thr305=) c.1350T>A (p.Thr450=) c.1335T>A (p.Thr445=) | |
| 8 | g.71216787G>A | CA371466765 | EYA1 | c.1265C>T (p.Thr422Ile) c.1163C>T (p.Thr388Ile) c.1160C>T (p.Thr387Ile) c.*544C>T (n.*544C>T) c.655C>T n.1728C>T c.*942C>T (n.*942C>T) c.1352C>T (p.Thr451Ile) c.1247C>T (p.Thr416Ile) n.335C>T c.1244C>T (p.Thr415Ile) c.1166C>T (p.Thr389Ile) c.1262C>T (p.Thr421Ile) c.*210C>T (n.*210C>T) n.1760C>T c.899C>T (p.Thr300Ile) c.1337C>T (p.Thr446Ile) c.1250C>T (p.Thr417Ile) c.1202C>T (p.Thr401Ile) c.914C>T (p.Thr305Ile) c.1349C>T (p.Thr450Ile) c.1334C>T (p.Thr445Ile) | |
| 8 | g.71216787G>C | CA371466767 | EYA1 | c.1265C>G (p.Thr422Ser) c.1163C>G (p.Thr388Ser) c.1160C>G (p.Thr387Ser) c.*544C>G (n.*544C>G) c.655C>G n.1728C>G c.*942C>G (n.*942C>G) c.1352C>G (p.Thr451Ser) c.1247C>G (p.Thr416Ser) n.335C>G c.1244C>G (p.Thr415Ser) c.1166C>G (p.Thr389Ser) c.1262C>G (p.Thr421Ser) c.*210C>G (n.*210C>G) n.1760C>G c.899C>G (p.Thr300Ser) c.1337C>G (p.Thr446Ser) c.1250C>G (p.Thr417Ser) c.1202C>G (p.Thr401Ser) c.914C>G (p.Thr305Ser) c.1349C>G (p.Thr450Ser) c.1334C>G (p.Thr445Ser) | |
| 8 | g.71216787G>T | CA371466766 | EYA1 | c.1265C>A (p.Thr422Asn) c.1163C>A (p.Thr388Asn) c.1160C>A (p.Thr387Asn) c.*544C>A (n.*544C>A) c.655C>A n.1728C>A c.*942C>A (n.*942C>A) c.1352C>A (p.Thr451Asn) c.1247C>A (p.Thr416Asn) n.335C>A c.1244C>A (p.Thr415Asn) c.1166C>A (p.Thr389Asn) c.1262C>A (p.Thr421Asn) c.*210C>A (n.*210C>A) n.1760C>A c.899C>A (p.Thr300Asn) c.1337C>A (p.Thr446Asn) c.1250C>A (p.Thr417Asn) c.1202C>A (p.Thr401Asn) c.914C>A (p.Thr305Asn) c.1349C>A (p.Thr450Asn) c.1334C>A (p.Thr445Asn) | |
| 8 | g.71216788T>A | CA4779512 | EYA1 | c.1264A>T (p.Thr422Ser) c.1162A>T (p.Thr388Ser) c.1159A>T (p.Thr387Ser) c.*543A>T (n.*543A>T) c.654A>T n.1727A>T c.*941A>T (n.*941A>T) c.1351A>T (p.Thr451Ser) c.1246A>T (p.Thr416Ser) n.334A>T c.1243A>T (p.Thr415Ser) c.1165A>T (p.Thr389Ser) c.1261A>T (p.Thr421Ser) c.*209A>T (n.*209A>T) n.1759A>T c.898A>T (p.Thr300Ser) c.1336A>T (p.Thr446Ser) c.1249A>T (p.Thr417Ser) c.1201A>T (p.Thr401Ser) c.913A>T (p.Thr305Ser) c.1348A>T (p.Thr450Ser) c.1333A>T (p.Thr445Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216788T>C | CA371466768 | EYA1 | c.1264A>G (p.Thr422Ala) c.1162A>G (p.Thr388Ala) c.1159A>G (p.Thr387Ala) c.*543A>G (n.*543A>G) c.654A>G n.1727A>G c.*941A>G (n.*941A>G) c.1351A>G (p.Thr451Ala) c.1246A>G (p.Thr416Ala) n.334A>G c.1243A>G (p.Thr415Ala) c.1165A>G (p.Thr389Ala) c.1261A>G (p.Thr421Ala) c.*209A>G (n.*209A>G) n.1759A>G c.898A>G (p.Thr300Ala) c.1336A>G (p.Thr446Ala) c.1249A>G (p.Thr417Ala) c.1201A>G (p.Thr401Ala) c.913A>G (p.Thr305Ala) c.1348A>G (p.Thr450Ala) c.1333A>G (p.Thr445Ala) | dbSNP gnomAD v4 |
| 8 | g.71216788T>G | CA4779513 | EYA1 | c.1264A>C (p.Thr422Pro) c.1162A>C (p.Thr388Pro) c.1159A>C (p.Thr387Pro) c.*543A>C (n.*543A>C) c.654A>C n.1727A>C c.*941A>C (n.*941A>C) c.1351A>C (p.Thr451Pro) c.1246A>C (p.Thr416Pro) n.334A>C c.1243A>C (p.Thr415Pro) c.1165A>C (p.Thr389Pro) c.1261A>C (p.Thr421Pro) c.*209A>C (n.*209A>C) n.1759A>C c.898A>C (p.Thr300Pro) c.1336A>C (p.Thr446Pro) c.1249A>C (p.Thr417Pro) c.1201A>C (p.Thr401Pro) c.913A>C (p.Thr305Pro) c.1348A>C (p.Thr450Pro) c.1333A>C (p.Thr445Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216788T= | CA1792692873 | EYA1 | c.1264A= (p.Thr422=) c.1162A= (p.Thr388=) c.1159A= (p.Thr387=) c.*543A= (n.*543A=) c.654A= n.1727A= c.*941A= (n.*941A=) c.1351A= (p.Thr451=) c.1246A= (p.Thr416=) n.334A= c.1243A= (p.Thr415=) c.1165A= (p.Thr389=) c.1261A= (p.Thr421=) c.*209A= (n.*209A=) n.1759A= c.898A= (p.Thr300=) c.1336A= (p.Thr446=) c.1249A= (p.Thr417=) c.1201A= (p.Thr401=) c.913A= (p.Thr305=) c.1348A= (p.Thr450=) c.1333A= (p.Thr445=) | |
| 8 | g.71216789T>A | CA461434053 | EYA1 | c.1263A>T (p.Ala421=) c.1161A>T (p.Ala387=) c.1158A>T (p.Ala386=) c.*542A>T (n.*542A>T) c.653A>T n.1726A>T c.*940A>T (n.*940A>T) c.1350A>T (p.Ala450=) c.1245A>T (p.Ala415=) n.333A>T c.1242A>T (p.Ala414=) c.1164A>T (p.Ala388=) c.1260A>T (p.Ala420=) c.*208A>T (n.*208A>T) n.1758A>T c.897A>T (p.Ala299=) c.1335A>T (p.Ala445=) c.1248A>T (p.Ala416=) c.1200A>T (p.Ala400=) c.912A>T (p.Ala304=) c.1347A>T (p.Ala449=) c.1332A>T (p.Ala444=) | |
| 8 | g.71216789T>C | CA461434054 | EYA1 | c.1263A>G (p.Ala421=) c.1161A>G (p.Ala387=) c.1158A>G (p.Ala386=) c.*542A>G (n.*542A>G) c.653A>G n.1726A>G c.*940A>G (n.*940A>G) c.1350A>G (p.Ala450=) c.1245A>G (p.Ala415=) n.333A>G c.1242A>G (p.Ala414=) c.1164A>G (p.Ala388=) c.1260A>G (p.Ala420=) c.*208A>G (n.*208A>G) n.1758A>G c.897A>G (p.Ala299=) c.1335A>G (p.Ala445=) c.1248A>G (p.Ala416=) c.1200A>G (p.Ala400=) c.912A>G (p.Ala304=) c.1347A>G (p.Ala449=) c.1332A>G (p.Ala444=) | |
| 8 | g.71216789T>G | CA461434055 | EYA1 | c.1263A>C (p.Ala421=) c.1161A>C (p.Ala387=) c.1158A>C (p.Ala386=) c.*542A>C (n.*542A>C) c.653A>C n.1726A>C c.*940A>C (n.*940A>C) c.1350A>C (p.Ala450=) c.1245A>C (p.Ala415=) n.333A>C c.1242A>C (p.Ala414=) c.1164A>C (p.Ala388=) c.1260A>C (p.Ala420=) c.*208A>C (n.*208A>C) n.1758A>C c.897A>C (p.Ala299=) c.1335A>C (p.Ala445=) c.1248A>C (p.Ala416=) c.1200A>C (p.Ala400=) c.912A>C (p.Ala304=) c.1347A>C (p.Ala449=) c.1332A>C (p.Ala444=) | |
| 8 | g.71216790G>A | CA371466769 | EYA1 | c.1262C>T (p.Ala421Val) c.1160C>T (p.Ala387Val) c.1157C>T (p.Ala386Val) c.*541C>T (n.*541C>T) c.652C>T n.1725C>T c.*939C>T (n.*939C>T) c.1349C>T (p.Ala450Val) c.1244C>T (p.Ala415Val) n.332C>T c.1241C>T (p.Ala414Val) c.1163C>T (p.Ala388Val) c.1259C>T (p.Ala420Val) c.*207C>T (n.*207C>T) n.1757C>T c.896C>T (p.Ala299Val) c.1334C>T (p.Ala445Val) c.1247C>T (p.Ala416Val) c.1199C>T (p.Ala400Val) c.911C>T (p.Ala304Val) c.1346C>T (p.Ala449Val) c.1331C>T (p.Ala444Val) | |
| 8 | g.71216790G>C | CA371466770 | EYA1 | c.1262C>G (p.Ala421Gly) c.1160C>G (p.Ala387Gly) c.1157C>G (p.Ala386Gly) c.*541C>G (n.*541C>G) c.652C>G n.1725C>G c.*939C>G (n.*939C>G) c.1349C>G (p.Ala450Gly) c.1244C>G (p.Ala415Gly) n.332C>G c.1241C>G (p.Ala414Gly) c.1163C>G (p.Ala388Gly) c.1259C>G (p.Ala420Gly) c.*207C>G (n.*207C>G) n.1757C>G c.896C>G (p.Ala299Gly) c.1334C>G (p.Ala445Gly) c.1247C>G (p.Ala416Gly) c.1199C>G (p.Ala400Gly) c.911C>G (p.Ala304Gly) c.1346C>G (p.Ala449Gly) c.1331C>G (p.Ala444Gly) | |
| 8 | g.71216790G>T | CA371466771 | EYA1 | c.1262C>A (p.Ala421Glu) c.1160C>A (p.Ala387Glu) c.1157C>A (p.Ala386Glu) c.*541C>A (n.*541C>A) c.652C>A n.1725C>A c.*939C>A (n.*939C>A) c.1349C>A (p.Ala450Glu) c.1244C>A (p.Ala415Glu) n.332C>A c.1241C>A (p.Ala414Glu) c.1163C>A (p.Ala388Glu) c.1259C>A (p.Ala420Glu) c.*207C>A (n.*207C>A) n.1757C>A c.896C>A (p.Ala299Glu) c.1334C>A (p.Ala445Glu) c.1247C>A (p.Ala416Glu) c.1199C>A (p.Ala400Glu) c.911C>A (p.Ala304Glu) c.1346C>A (p.Ala449Glu) c.1331C>A (p.Ala444Glu) | |
| 8 | g.71216791C>A | CA371466772 | EYA1 | c.1261G>T (p.Ala421Ser) c.1159G>T (p.Ala387Ser) c.1156G>T (p.Ala386Ser) c.*540G>T (n.*540G>T) c.651G>T n.1724G>T c.*938G>T (n.*938G>T) c.1348G>T (p.Ala450Ser) c.1243G>T (p.Ala415Ser) n.331G>T c.1240G>T (p.Ala414Ser) c.1162G>T (p.Ala388Ser) c.1258G>T (p.Ala420Ser) c.*206G>T (n.*206G>T) n.1756G>T c.895G>T (p.Ala299Ser) c.1333G>T (p.Ala445Ser) c.1246G>T (p.Ala416Ser) c.1198G>T (p.Ala400Ser) c.910G>T (p.Ala304Ser) c.1345G>T (p.Ala449Ser) c.1330G>T (p.Ala444Ser) | |
| 8 | g.71216791C>G | CA371466773 | EYA1 | c.1261G>C (p.Ala421Pro) c.1159G>C (p.Ala387Pro) c.1156G>C (p.Ala386Pro) c.*540G>C (n.*540G>C) c.651G>C n.1724G>C c.*938G>C (n.*938G>C) c.1348G>C (p.Ala450Pro) c.1243G>C (p.Ala415Pro) n.331G>C c.1240G>C (p.Ala414Pro) c.1162G>C (p.Ala388Pro) c.1258G>C (p.Ala420Pro) c.*206G>C (n.*206G>C) n.1756G>C c.895G>C (p.Ala299Pro) c.1333G>C (p.Ala445Pro) c.1246G>C (p.Ala416Pro) c.1198G>C (p.Ala400Pro) c.910G>C (p.Ala304Pro) c.1345G>C (p.Ala449Pro) c.1330G>C (p.Ala444Pro) | |
| 8 | g.71216791C>T | CA371466774 | EYA1 | c.1261G>A (p.Ala421Thr) c.1159G>A (p.Ala387Thr) c.1156G>A (p.Ala386Thr) c.*540G>A (n.*540G>A) c.651G>A n.1724G>A c.*938G>A (n.*938G>A) c.1348G>A (p.Ala450Thr) c.1243G>A (p.Ala415Thr) n.331G>A c.1240G>A (p.Ala414Thr) c.1162G>A (p.Ala388Thr) c.1258G>A (p.Ala420Thr) c.*206G>A (n.*206G>A) n.1756G>A c.895G>A (p.Ala299Thr) c.1333G>A (p.Ala445Thr) c.1246G>A (p.Ala416Thr) c.1198G>A (p.Ala400Thr) c.910G>A (p.Ala304Thr) c.1345G>A (p.Ala449Thr) c.1330G>A (p.Ala444Thr) | |
| 8 | g.71216792C>A | CA371466775 | EYA1 | c.1260G>T (p.Leu420Phe) c.1158G>T (p.Leu386Phe) c.1155G>T (p.Leu385Phe) c.*539G>T (n.*539G>T) c.650G>T n.1723G>T c.*937G>T (n.*937G>T) c.1347G>T (p.Leu449Phe) c.1242G>T (p.Leu414Phe) n.330G>T c.1239G>T (p.Leu413Phe) c.1161G>T (p.Leu387Phe) c.1257G>T (p.Leu419Phe) c.*205G>T (n.*205G>T) n.1755G>T c.894G>T (p.Leu298Phe) c.1332G>T (p.Leu444Phe) c.1245G>T (p.Leu415Phe) c.1197G>T (p.Leu399Phe) c.909G>T (p.Leu303Phe) c.1344G>T (p.Leu448Phe) c.1329G>T (p.Leu443Phe) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216792C= | CA1792692877 | EYA1 | c.1260G= (p.Leu420=) c.1158G= (p.Leu386=) c.1155G= (p.Leu385=) c.*539G= (n.*539G=) c.650G= n.1723G= c.*937G= (n.*937G=) c.1347G= (p.Leu449=) c.1242G= (p.Leu414=) n.330G= c.1239G= (p.Leu413=) c.1161G= (p.Leu387=) c.1257G= (p.Leu419=) c.*205G= (n.*205G=) n.1755G= c.894G= (p.Leu298=) c.1332G= (p.Leu444=) c.1245G= (p.Leu415=) c.1197G= (p.Leu399=) c.909G= (p.Leu303=) c.1344G= (p.Leu448=) c.1329G= (p.Leu443=) | |
| 8 | g.71216792C>G | CA4779514 | EYA1 | c.1260G>C (p.Leu420Phe) c.1158G>C (p.Leu386Phe) c.1155G>C (p.Leu385Phe) c.*539G>C (n.*539G>C) c.650G>C n.1723G>C c.*937G>C (n.*937G>C) c.1347G>C (p.Leu449Phe) c.1242G>C (p.Leu414Phe) n.330G>C c.1239G>C (p.Leu413Phe) c.1161G>C (p.Leu387Phe) c.1257G>C (p.Leu419Phe) c.*205G>C (n.*205G>C) n.1755G>C c.894G>C (p.Leu298Phe) c.1332G>C (p.Leu444Phe) c.1245G>C (p.Leu415Phe) c.1197G>C (p.Leu399Phe) c.909G>C (p.Leu303Phe) c.1344G>C (p.Leu448Phe) c.1329G>C (p.Leu443Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216792C>T | CA461434061 | EYA1 | c.1260G>A (p.Leu420=) c.1158G>A (p.Leu386=) c.1155G>A (p.Leu385=) c.*539G>A (n.*539G>A) c.650G>A n.1723G>A c.*937G>A (n.*937G>A) c.1347G>A (p.Leu449=) c.1242G>A (p.Leu414=) n.330G>A c.1239G>A (p.Leu413=) c.1161G>A (p.Leu387=) c.1257G>A (p.Leu419=) c.*205G>A (n.*205G>A) n.1755G>A c.894G>A (p.Leu298=) c.1332G>A (p.Leu444=) c.1245G>A (p.Leu415=) c.1197G>A (p.Leu399=) c.909G>A (p.Leu303=) c.1344G>A (p.Leu448=) c.1329G>A (p.Leu443=) | gnomAD v4 |
| 8 | g.71216792_71216793delinsCA | CA1792692878 | EYA1 | c.1259_1260delinsTG (p.Leu420=) c.1157_1158delinsTG (p.Leu386=) c.1154_1155delinsTG (p.Leu385=) c.*538_*539delinsTG (n.*538_*539delinsTG) c.649_650delinsTG n.1722_1723delinsTG c.*936_*937delinsTG (n.*936_*937delinsTG) c.1346_1347delinsTG (p.Leu449=) c.1241_1242delinsTG (p.Leu414=) n.329_330delinsTG c.1238_1239delinsTG (p.Leu413=) c.1160_1161delinsTG (p.Leu387=) c.1256_1257delinsTG (p.Leu419=) c.*204_*205delinsTG (n.*204_*205delinsTG) n.1754_1755delinsTG c.893_894delinsTG (p.Leu298=) c.1331_1332delinsTG (p.Leu444=) c.1244_1245delinsTG (p.Leu415=) c.1196_1197delinsTG (p.Leu399=) c.908_909delinsTG (p.Leu303=) c.1343_1344delinsTG (p.Leu448=) c.1328_1329delinsTG (p.Leu443=) | |
| 8 | g.71216793A>C | CA371466776 | EYA1 | c.1259T>G (p.Leu420Trp) c.1157T>G (p.Leu386Trp) c.1154T>G (p.Leu385Trp) c.*538T>G (n.*538T>G) c.649T>G n.1722T>G c.*936T>G (n.*936T>G) c.1346T>G (p.Leu449Trp) c.1241T>G (p.Leu414Trp) n.329T>G c.1238T>G (p.Leu413Trp) c.1160T>G (p.Leu387Trp) c.1256T>G (p.Leu419Trp) c.*204T>G (n.*204T>G) n.1754T>G c.893T>G (p.Leu298Trp) c.1331T>G (p.Leu444Trp) c.1244T>G (p.Leu415Trp) c.1196T>G (p.Leu399Trp) c.908T>G (p.Leu303Trp) c.1343T>G (p.Leu448Trp) c.1328T>G (p.Leu443Trp) | |
| 8 | g.71216793A>G | CA371466777 | EYA1 | c.1259T>C (p.Leu420Ser) c.1157T>C (p.Leu386Ser) c.1154T>C (p.Leu385Ser) c.*538T>C (n.*538T>C) c.649T>C n.1722T>C c.*936T>C (n.*936T>C) c.1346T>C (p.Leu449Ser) c.1241T>C (p.Leu414Ser) n.329T>C c.1238T>C (p.Leu413Ser) c.1160T>C (p.Leu387Ser) c.1256T>C (p.Leu419Ser) c.*204T>C (n.*204T>C) n.1754T>C c.893T>C (p.Leu298Ser) c.1331T>C (p.Leu444Ser) c.1244T>C (p.Leu415Ser) c.1196T>C (p.Leu399Ser) c.908T>C (p.Leu303Ser) c.1343T>C (p.Leu448Ser) c.1328T>C (p.Leu443Ser) | |
| 8 | g.71216793A>T | CA371466778 | EYA1 | c.1259T>A (p.Leu420Ter) c.1157T>A (p.Leu386Ter) c.1154T>A (p.Leu385Ter) c.*538T>A (n.*538T>A) c.649T>A n.1722T>A c.*936T>A (n.*936T>A) c.1346T>A (p.Leu449Ter) c.1241T>A (p.Leu414Ter) n.329T>A c.1238T>A (p.Leu413Ter) c.1160T>A (p.Leu387Ter) c.1256T>A (p.Leu419Ter) c.*204T>A (n.*204T>A) n.1754T>A c.893T>A (p.Leu298Ter) c.1331T>A (p.Leu444Ter) c.1244T>A (p.Leu415Ter) c.1196T>A (p.Leu399Ter) c.908T>A (p.Leu303Ter) c.1343T>A (p.Leu448Ter) c.1328T>A (p.Leu443Ter) | |
| 8 | g.71216795del | CA1139660596 | EYA1 | c.1259del (p.Leu420TrpfsTer12) c.1157del (p.Leu386TrpfsTer12) c.1154del (p.Leu385TrpfsTer12) c.*538del (n.*538del) c.649del n.1722del c.*936del (n.*936del) c.1346del (p.Leu449TrpfsTer12) c.1241del (p.Leu414TrpfsTer12) n.329del c.1238del (p.Leu413TrpfsTer12) c.1160del (p.Leu387TrpfsTer12) c.1256del (p.Leu419TrpfsTer12) c.*204del (n.*204del) n.1754del c.893del (p.Leu298TrpfsTer12) c.1331del (p.Leu444TrpfsTer12) c.1244del (p.Leu415TrpfsTer12) c.1196del (p.Leu399TrpfsTer12) c.908del (p.Leu303TrpfsTer12) c.1343del (p.Leu448TrpfsTer12) c.1328del (p.Leu443TrpfsTer12) | ClinVar dbSNP |
| 8 | g.71216794A= | CA1792692891 | EYA1 | c.1258T= (p.Leu420=) c.1156T= (p.Leu386=) c.1153T= (p.Leu385=) c.*537T= (n.*537T=) c.648T= n.1721T= c.*935T= (n.*935T=) c.1345T= (p.Leu449=) c.1240T= (p.Leu414=) n.328T= c.1237T= (p.Leu413=) c.1159T= (p.Leu387=) c.1255T= (p.Leu419=) c.*203T= (n.*203T=) n.1753T= c.892T= (p.Leu298=) c.1330T= (p.Leu444=) c.1243T= (p.Leu415=) c.1195T= (p.Leu399=) c.907T= (p.Leu303=) c.1342T= (p.Leu448=) c.1327T= (p.Leu443=) | |
| 8 | g.71216794A>C | CA371466780 | EYA1 | c.1258T>G (p.Leu420Val) c.1156T>G (p.Leu386Val) c.1153T>G (p.Leu385Val) c.*537T>G (n.*537T>G) c.648T>G n.1721T>G c.*935T>G (n.*935T>G) c.1345T>G (p.Leu449Val) c.1240T>G (p.Leu414Val) n.328T>G c.1237T>G (p.Leu413Val) c.1159T>G (p.Leu387Val) c.1255T>G (p.Leu419Val) c.*203T>G (n.*203T>G) n.1753T>G c.892T>G (p.Leu298Val) c.1330T>G (p.Leu444Val) c.1243T>G (p.Leu415Val) c.1195T>G (p.Leu399Val) c.907T>G (p.Leu303Val) c.1342T>G (p.Leu448Val) c.1327T>G (p.Leu443Val) | |
| 8 | g.71216794A>G | CA4779515 | EYA1 | c.1258T>C (p.Leu420=) c.1156T>C (p.Leu386=) c.1153T>C (p.Leu385=) c.*537T>C (n.*537T>C) c.648T>C n.1721T>C c.*935T>C (n.*935T>C) c.1345T>C (p.Leu449=) c.1240T>C (p.Leu414=) n.328T>C c.1237T>C (p.Leu413=) c.1159T>C (p.Leu387=) c.1255T>C (p.Leu419=) c.*203T>C (n.*203T>C) n.1753T>C c.892T>C (p.Leu298=) c.1330T>C (p.Leu444=) c.1243T>C (p.Leu415=) c.1195T>C (p.Leu399=) c.907T>C (p.Leu303=) c.1342T>C (p.Leu448=) c.1327T>C (p.Leu443=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216794A>T | CA371466779 | EYA1 | c.1258T>A (p.Leu420Met) c.1156T>A (p.Leu386Met) c.1153T>A (p.Leu385Met) c.*537T>A (n.*537T>A) c.648T>A n.1721T>A c.*935T>A (n.*935T>A) c.1345T>A (p.Leu449Met) c.1240T>A (p.Leu414Met) n.328T>A c.1237T>A (p.Leu413Met) c.1159T>A (p.Leu387Met) c.1255T>A (p.Leu419Met) c.*203T>A (n.*203T>A) n.1753T>A c.892T>A (p.Leu298Met) c.1330T>A (p.Leu444Met) c.1243T>A (p.Leu415Met) c.1195T>A (p.Leu399Met) c.907T>A (p.Leu303Met) c.1342T>A (p.Leu448Met) c.1327T>A (p.Leu443Met) | gnomAD v4 |
| 8 | g.71216795A>C | CA371466781 | EYA1 | c.1257T>G (p.Cys419Trp) c.1155T>G (p.Cys385Trp) c.1152T>G (p.Cys384Trp) c.*536T>G (n.*536T>G) c.647T>G n.1720T>G c.*934T>G (n.*934T>G) c.1344T>G (p.Cys448Trp) c.1239T>G (p.Cys413Trp) n.327T>G c.1236T>G (p.Cys412Trp) c.1158T>G (p.Cys386Trp) c.1254T>G (p.Cys418Trp) c.*202T>G (n.*202T>G) n.1752T>G c.891T>G (p.Cys297Trp) c.1329T>G (p.Cys443Trp) c.1242T>G (p.Cys414Trp) c.1194T>G (p.Cys398Trp) c.906T>G (p.Cys302Trp) c.1341T>G (p.Cys447Trp) c.1326T>G (p.Cys442Trp) | |
| 8 | g.71216795A>G | CA461434063 | EYA1 | c.1257T>C (p.Cys419=) c.1155T>C (p.Cys385=) c.1152T>C (p.Cys384=) c.*536T>C (n.*536T>C) c.647T>C n.1720T>C c.*934T>C (n.*934T>C) c.1344T>C (p.Cys448=) c.1239T>C (p.Cys413=) n.327T>C c.1236T>C (p.Cys412=) c.1158T>C (p.Cys386=) c.1254T>C (p.Cys418=) c.*202T>C (n.*202T>C) n.1752T>C c.891T>C (p.Cys297=) c.1329T>C (p.Cys443=) c.1242T>C (p.Cys414=) c.1194T>C (p.Cys398=) c.906T>C (p.Cys302=) c.1341T>C (p.Cys447=) c.1326T>C (p.Cys442=) | |
| 8 | g.71216795A>T | CA371466782 | EYA1 | c.1257T>A (p.Cys419Ter) c.1155T>A (p.Cys385Ter) c.1152T>A (p.Cys384Ter) c.*536T>A (n.*536T>A) c.647T>A n.1720T>A c.*934T>A (n.*934T>A) c.1344T>A (p.Cys448Ter) c.1239T>A (p.Cys413Ter) n.327T>A c.1236T>A (p.Cys412Ter) c.1158T>A (p.Cys386Ter) c.1254T>A (p.Cys418Ter) c.*202T>A (n.*202T>A) n.1752T>A c.891T>A (p.Cys297Ter) c.1329T>A (p.Cys443Ter) c.1242T>A (p.Cys414Ter) c.1194T>A (p.Cys398Ter) c.906T>A (p.Cys302Ter) c.1341T>A (p.Cys447Ter) c.1326T>A (p.Cys442Ter) | |
| 8 | g.71216796C>A | CA371466783 | EYA1 | c.1256G>T (p.Cys419Phe) c.1154G>T (p.Cys385Phe) c.1151G>T (p.Cys384Phe) c.*535G>T (n.*535G>T) c.646G>T n.1719G>T c.*933G>T (n.*933G>T) c.1343G>T (p.Cys448Phe) c.1238G>T (p.Cys413Phe) n.326G>T c.1235G>T (p.Cys412Phe) c.1157G>T (p.Cys386Phe) c.1253G>T (p.Cys418Phe) c.*201G>T (n.*201G>T) n.1751G>T c.890G>T (p.Cys297Phe) c.1328G>T (p.Cys443Phe) c.1241G>T (p.Cys414Phe) c.1193G>T (p.Cys398Phe) c.905G>T (p.Cys302Phe) c.1340G>T (p.Cys447Phe) c.1325G>T (p.Cys442Phe) | |
| 8 | g.71216796C>G | CA371466784 | EYA1 | c.1256G>C (p.Cys419Ser) c.1154G>C (p.Cys385Ser) c.1151G>C (p.Cys384Ser) c.*535G>C (n.*535G>C) c.646G>C n.1719G>C c.*933G>C (n.*933G>C) c.1343G>C (p.Cys448Ser) c.1238G>C (p.Cys413Ser) n.326G>C c.1235G>C (p.Cys412Ser) c.1157G>C (p.Cys386Ser) c.1253G>C (p.Cys418Ser) c.*201G>C (n.*201G>C) n.1751G>C c.890G>C (p.Cys297Ser) c.1328G>C (p.Cys443Ser) c.1241G>C (p.Cys414Ser) c.1193G>C (p.Cys398Ser) c.905G>C (p.Cys302Ser) c.1340G>C (p.Cys447Ser) c.1325G>C (p.Cys442Ser) | |
| 8 | g.71216796C>T | CA371466785 | EYA1 | c.1256G>A (p.Cys419Tyr) c.1154G>A (p.Cys385Tyr) c.1151G>A (p.Cys384Tyr) c.*535G>A (n.*535G>A) c.646G>A n.1719G>A c.*933G>A (n.*933G>A) c.1343G>A (p.Cys448Tyr) c.1238G>A (p.Cys413Tyr) n.326G>A c.1235G>A (p.Cys412Tyr) c.1157G>A (p.Cys386Tyr) c.1253G>A (p.Cys418Tyr) c.*201G>A (n.*201G>A) n.1751G>A c.890G>A (p.Cys297Tyr) c.1328G>A (p.Cys443Tyr) c.1241G>A (p.Cys414Tyr) c.1193G>A (p.Cys398Tyr) c.905G>A (p.Cys302Tyr) c.1340G>A (p.Cys447Tyr) c.1325G>A (p.Cys442Tyr) | gnomAD v4 |
| 8 | g.71216797del | CA2695209876 | EYA1 | c.1255del (p.Cys419ValfsTer13) c.1153del (p.Cys385ValfsTer13) c.1150del (p.Cys384ValfsTer13) c.*534del (n.*534del) c.645del n.1718del c.*932del (n.*932del) c.1342del (p.Cys448ValfsTer13) c.1237del (p.Cys413ValfsTer13) n.325del c.1234del (p.Cys412ValfsTer13) c.1156del (p.Cys386ValfsTer13) c.1252del (p.Cys418ValfsTer13) c.*200del (n.*200del) n.1750del c.889del (p.Cys297ValfsTer13) c.1327del (p.Cys443ValfsTer13) c.1240del (p.Cys414ValfsTer13) c.1192del (p.Cys398ValfsTer13) c.904del (p.Cys302ValfsTer13) c.1339del (p.Cys447ValfsTer13) c.1324del (p.Cys442ValfsTer13) | |
| 8 | g.71216797A= | CA1792692895 | EYA1 | c.1255T= (p.Cys419=) c.1153T= (p.Cys385=) c.1150T= (p.Cys384=) c.*534T= (n.*534T=) c.645T= n.1718T= c.*932T= (n.*932T=) c.1342T= (p.Cys448=) c.1237T= (p.Cys413=) n.325T= c.1234T= (p.Cys412=) c.1156T= (p.Cys386=) c.1252T= (p.Cys418=) c.*200T= (n.*200T=) n.1750T= c.889T= (p.Cys297=) c.1327T= (p.Cys443=) c.1240T= (p.Cys414=) c.1192T= (p.Cys398=) c.904T= (p.Cys302=) c.1339T= (p.Cys447=) c.1324T= (p.Cys442=) | |
| 8 | g.71216797A>C | CA371466786 | EYA1 | c.1255T>G (p.Cys419Gly) c.1153T>G (p.Cys385Gly) c.1150T>G (p.Cys384Gly) c.*534T>G (n.*534T>G) c.645T>G n.1718T>G c.*932T>G (n.*932T>G) c.1342T>G (p.Cys448Gly) c.1237T>G (p.Cys413Gly) n.325T>G c.1234T>G (p.Cys412Gly) c.1156T>G (p.Cys386Gly) c.1252T>G (p.Cys418Gly) c.*200T>G (n.*200T>G) n.1750T>G c.889T>G (p.Cys297Gly) c.1327T>G (p.Cys443Gly) c.1240T>G (p.Cys414Gly) c.1192T>G (p.Cys398Gly) c.904T>G (p.Cys302Gly) c.1339T>G (p.Cys447Gly) c.1324T>G (p.Cys442Gly) | |
| 8 | g.71216797A>G | CA4779516 | EYA1 | c.1255T>C (p.Cys419Arg) c.1153T>C (p.Cys385Arg) c.1150T>C (p.Cys384Arg) c.*534T>C (n.*534T>C) c.645T>C n.1718T>C c.*932T>C (n.*932T>C) c.1342T>C (p.Cys448Arg) c.1237T>C (p.Cys413Arg) n.325T>C c.1234T>C (p.Cys412Arg) c.1156T>C (p.Cys386Arg) c.1252T>C (p.Cys418Arg) c.*200T>C (n.*200T>C) n.1750T>C c.889T>C (p.Cys297Arg) c.1327T>C (p.Cys443Arg) c.1240T>C (p.Cys414Arg) c.1192T>C (p.Cys398Arg) c.904T>C (p.Cys302Arg) c.1339T>C (p.Cys447Arg) c.1324T>C (p.Cys442Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216797A>T | CA371466787 | EYA1 | c.1255T>A (p.Cys419Ser) c.1153T>A (p.Cys385Ser) c.1150T>A (p.Cys384Ser) c.*534T>A (n.*534T>A) c.645T>A n.1718T>A c.*932T>A (n.*932T>A) c.1342T>A (p.Cys448Ser) c.1237T>A (p.Cys413Ser) n.325T>A c.1234T>A (p.Cys412Ser) c.1156T>A (p.Cys386Ser) c.1252T>A (p.Cys418Ser) c.*200T>A (n.*200T>A) n.1750T>A c.889T>A (p.Cys297Ser) c.1327T>A (p.Cys443Ser) c.1240T>A (p.Cys414Ser) c.1192T>A (p.Cys398Ser) c.904T>A (p.Cys302Ser) c.1339T>A (p.Cys447Ser) c.1324T>A (p.Cys442Ser) | gnomAD v4 |
| 8 | g.71216798_71216799del | CA2695209877 | EYA1 | c.1254_1255del (p.Cys419PhefsTer?) c.1152_1153del (p.Cys385PhefsTer?) c.1149_1150del (p.Cys384PhefsTer?) c.*533_*534del (n.*533_*534del) c.644_645del n.1717_1718del c.*931_*932del (n.*931_*932del) c.1341_1342del (p.Cys448PhefsTer?) c.1236_1237del (p.Cys413PhefsTer?) n.324_325del c.1233_1234del (p.Cys412PhefsTer?) c.1155_1156del (p.Cys386PhefsTer?) c.1251_1252del (p.Cys418PhefsTer?) c.*199_*200del (n.*199_*200del) n.1749_1750del c.888_889del (p.Cys297PhefsTer?) c.1326_1327del (p.Cys443PhefsTer?) c.1239_1240del (p.Cys414PhefsTer?) c.1191_1192del (p.Cys398PhefsTer?) c.903_904del (p.Cys302PhefsTer?) c.1338_1339del (p.Cys447PhefsTer?) c.1323_1324del (p.Cys442PhefsTer?) | |
| 8 | g.71216798T>A | CA371466788 | EYA1 | c.1254A>T (p.Leu418Phe) c.1152A>T (p.Leu384Phe) c.1149A>T (p.Leu383Phe) c.*533A>T (n.*533A>T) c.644A>T n.1717A>T c.*931A>T (n.*931A>T) c.1341A>T (p.Leu447Phe) c.1236A>T (p.Leu412Phe) n.324A>T c.1233A>T (p.Leu411Phe) c.1155A>T (p.Leu385Phe) c.1251A>T (p.Leu417Phe) c.*199A>T (n.*199A>T) n.1749A>T c.888A>T (p.Leu296Phe) c.1326A>T (p.Leu442Phe) c.1239A>T (p.Leu413Phe) c.1191A>T (p.Leu397Phe) c.903A>T (p.Leu301Phe) c.1338A>T (p.Leu446Phe) c.1323A>T (p.Leu441Phe) | |
| 8 | g.71216798T>C | CA461434068 | EYA1 | c.1254A>G (p.Leu418=) c.1152A>G (p.Leu384=) c.1149A>G (p.Leu383=) c.*533A>G (n.*533A>G) c.644A>G n.1717A>G c.*931A>G (n.*931A>G) c.1341A>G (p.Leu447=) c.1236A>G (p.Leu412=) n.324A>G c.1233A>G (p.Leu411=) c.1155A>G (p.Leu385=) c.1251A>G (p.Leu417=) c.*199A>G (n.*199A>G) n.1749A>G c.888A>G (p.Leu296=) c.1326A>G (p.Leu442=) c.1239A>G (p.Leu413=) c.1191A>G (p.Leu397=) c.903A>G (p.Leu301=) c.1338A>G (p.Leu446=) c.1323A>G (p.Leu441=) | |
| 8 | g.71216798T>G | CA371466789 | EYA1 | c.1254A>C (p.Leu418Phe) c.1152A>C (p.Leu384Phe) c.1149A>C (p.Leu383Phe) c.*533A>C (n.*533A>C) c.644A>C n.1717A>C c.*931A>C (n.*931A>C) c.1341A>C (p.Leu447Phe) c.1236A>C (p.Leu412Phe) n.324A>C c.1233A>C (p.Leu411Phe) c.1155A>C (p.Leu385Phe) c.1251A>C (p.Leu417Phe) c.*199A>C (n.*199A>C) n.1749A>C c.888A>C (p.Leu296Phe) c.1326A>C (p.Leu442Phe) c.1239A>C (p.Leu413Phe) c.1191A>C (p.Leu397Phe) c.903A>C (p.Leu301Phe) c.1338A>C (p.Leu446Phe) c.1323A>C (p.Leu441Phe) | |
| 8 | g.71216799A>C | CA371466792 | EYA1 | c.1253T>G (p.Leu418Ter) c.1151T>G (p.Leu384Ter) c.1148T>G (p.Leu383Ter) c.*532T>G (n.*532T>G) c.643T>G n.1716T>G c.*930T>G (n.*930T>G) c.1340T>G (p.Leu447Ter) c.1235T>G (p.Leu412Ter) n.323T>G c.1232T>G (p.Leu411Ter) c.1154T>G (p.Leu385Ter) c.1250T>G (p.Leu417Ter) c.*198T>G (n.*198T>G) n.1748T>G c.887T>G (p.Leu296Ter) c.1325T>G (p.Leu442Ter) c.1238T>G (p.Leu413Ter) c.1190T>G (p.Leu397Ter) c.902T>G (p.Leu301Ter) c.1337T>G (p.Leu446Ter) c.1322T>G (p.Leu441Ter) | |
| 8 | g.71216799A>G | CA371466791 | EYA1 | c.1253T>C (p.Leu418Ser) c.1151T>C (p.Leu384Ser) c.1148T>C (p.Leu383Ser) c.*532T>C (n.*532T>C) c.643T>C n.1716T>C c.*930T>C (n.*930T>C) c.1340T>C (p.Leu447Ser) c.1235T>C (p.Leu412Ser) n.323T>C c.1232T>C (p.Leu411Ser) c.1154T>C (p.Leu385Ser) c.1250T>C (p.Leu417Ser) c.*198T>C (n.*198T>C) n.1748T>C c.887T>C (p.Leu296Ser) c.1325T>C (p.Leu442Ser) c.1238T>C (p.Leu413Ser) c.1190T>C (p.Leu397Ser) c.902T>C (p.Leu301Ser) c.1337T>C (p.Leu446Ser) c.1322T>C (p.Leu441Ser) | |
| 8 | g.71216799A>T | CA371466790 | EYA1 | c.1253T>A (p.Leu418Ter) c.1151T>A (p.Leu384Ter) c.1148T>A (p.Leu383Ter) c.*532T>A (n.*532T>A) c.643T>A n.1716T>A c.*930T>A (n.*930T>A) c.1340T>A (p.Leu447Ter) c.1235T>A (p.Leu412Ter) n.323T>A c.1232T>A (p.Leu411Ter) c.1154T>A (p.Leu385Ter) c.1250T>A (p.Leu417Ter) c.*198T>A (n.*198T>A) n.1748T>A c.887T>A (p.Leu296Ter) c.1325T>A (p.Leu442Ter) c.1238T>A (p.Leu413Ter) c.1190T>A (p.Leu397Ter) c.902T>A (p.Leu301Ter) c.1337T>A (p.Leu446Ter) c.1322T>A (p.Leu441Ter) | |
| 8 | g.71216800A>C | CA371466793 | EYA1 | c.1252T>G (p.Leu418Val) c.1150T>G (p.Leu384Val) c.1147T>G (p.Leu383Val) c.*531T>G (n.*531T>G) c.642T>G n.1715T>G c.*929T>G (n.*929T>G) c.1339T>G (p.Leu447Val) c.1234T>G (p.Leu412Val) n.322T>G c.1231T>G (p.Leu411Val) c.1153T>G (p.Leu385Val) c.1249T>G (p.Leu417Val) c.*197T>G (n.*197T>G) n.1747T>G c.886T>G (p.Leu296Val) c.1324T>G (p.Leu442Val) c.1237T>G (p.Leu413Val) c.1189T>G (p.Leu397Val) c.901T>G (p.Leu301Val) c.1336T>G (p.Leu446Val) c.1321T>G (p.Leu441Val) | |
| 8 | g.71216800A>G | CA461434073 | EYA1 | c.1252T>C (p.Leu418=) c.1150T>C (p.Leu384=) c.1147T>C (p.Leu383=) c.*531T>C (n.*531T>C) c.642T>C n.1715T>C c.*929T>C (n.*929T>C) c.1339T>C (p.Leu447=) c.1234T>C (p.Leu412=) n.322T>C c.1231T>C (p.Leu411=) c.1153T>C (p.Leu385=) c.1249T>C (p.Leu417=) c.*197T>C (n.*197T>C) n.1747T>C c.886T>C (p.Leu296=) c.1324T>C (p.Leu442=) c.1237T>C (p.Leu413=) c.1189T>C (p.Leu397=) c.901T>C (p.Leu301=) c.1336T>C (p.Leu446=) c.1321T>C (p.Leu441=) | |
| 8 | g.71216800A>T | CA371466794 | EYA1 | c.1252T>A (p.Leu418Ile) c.1150T>A (p.Leu384Ile) c.1147T>A (p.Leu383Ile) c.*531T>A (n.*531T>A) c.642T>A n.1715T>A c.*929T>A (n.*929T>A) c.1339T>A (p.Leu447Ile) c.1234T>A (p.Leu412Ile) n.322T>A c.1231T>A (p.Leu411Ile) c.1153T>A (p.Leu385Ile) c.1249T>A (p.Leu417Ile) c.*197T>A (n.*197T>A) n.1747T>A c.886T>A (p.Leu296Ile) c.1324T>A (p.Leu442Ile) c.1237T>A (p.Leu413Ile) c.1189T>A (p.Leu397Ile) c.901T>A (p.Leu301Ile) c.1336T>A (p.Leu446Ile) c.1321T>A (p.Leu441Ile) | |
| 8 | g.71216801G>A | CA461434077 | EYA1 | c.1251C>T (p.Asn417=) c.1149C>T (p.Asn383=) c.1146C>T (p.Asn382=) c.*530C>T (n.*530C>T) c.641C>T n.1714C>T c.*928C>T (n.*928C>T) c.1338C>T (p.Asn446=) c.1233C>T (p.Asn411=) n.321C>T c.1230C>T (p.Asn410=) c.1152C>T (p.Asn384=) c.1248C>T (p.Asn416=) c.*196C>T (n.*196C>T) n.1746C>T c.885C>T (p.Asn295=) c.1323C>T (p.Asn441=) c.1236C>T (p.Asn412=) c.1188C>T (p.Asn396=) c.900C>T (p.Asn300=) c.1335C>T (p.Asn445=) c.1320C>T (p.Asn440=) | gnomAD v4 |
| 8 | g.71216801G>C | CA371466795 | EYA1 | c.1251C>G (p.Asn417Lys) c.1149C>G (p.Asn383Lys) c.1146C>G (p.Asn382Lys) c.*530C>G (n.*530C>G) c.641C>G n.1714C>G c.*928C>G (n.*928C>G) c.1338C>G (p.Asn446Lys) c.1233C>G (p.Asn411Lys) n.321C>G c.1230C>G (p.Asn410Lys) c.1152C>G (p.Asn384Lys) c.1248C>G (p.Asn416Lys) c.*196C>G (n.*196C>G) n.1746C>G c.885C>G (p.Asn295Lys) c.1323C>G (p.Asn441Lys) c.1236C>G (p.Asn412Lys) c.1188C>G (p.Asn396Lys) c.900C>G (p.Asn300Lys) c.1335C>G (p.Asn445Lys) c.1320C>G (p.Asn440Lys) | |
| 8 | g.71216801G>T | CA371466796 | EYA1 | c.1251C>A (p.Asn417Lys) c.1149C>A (p.Asn383Lys) c.1146C>A (p.Asn382Lys) c.*530C>A (n.*530C>A) c.641C>A n.1714C>A c.*928C>A (n.*928C>A) c.1338C>A (p.Asn446Lys) c.1233C>A (p.Asn411Lys) n.321C>A c.1230C>A (p.Asn410Lys) c.1152C>A (p.Asn384Lys) c.1248C>A (p.Asn416Lys) c.*196C>A (n.*196C>A) n.1746C>A c.885C>A (p.Asn295Lys) c.1323C>A (p.Asn441Lys) c.1236C>A (p.Asn412Lys) c.1188C>A (p.Asn396Lys) c.900C>A (p.Asn300Lys) c.1335C>A (p.Asn445Lys) c.1320C>A (p.Asn440Lys) | |
| 8 | g.71216802T>A | CA371466797 | EYA1 | c.1250A>T (p.Asn417Ile) c.1148A>T (p.Asn383Ile) c.1145A>T (p.Asn382Ile) c.*529A>T (n.*529A>T) c.640A>T n.1713A>T c.*927A>T (n.*927A>T) c.1337A>T (p.Asn446Ile) c.1232A>T (p.Asn411Ile) n.320A>T c.1229A>T (p.Asn410Ile) c.1151A>T (p.Asn384Ile) c.1247A>T (p.Asn416Ile) c.*195A>T (n.*195A>T) n.1745A>T c.884A>T (p.Asn295Ile) c.1322A>T (p.Asn441Ile) c.1235A>T (p.Asn412Ile) c.1187A>T (p.Asn396Ile) c.899A>T (p.Asn300Ile) c.1334A>T (p.Asn445Ile) c.1319A>T (p.Asn440Ile) | |
| 8 | g.71216802T>C | CA371466798 | EYA1 | c.1250A>G (p.Asn417Ser) c.1148A>G (p.Asn383Ser) c.1145A>G (p.Asn382Ser) c.*529A>G (n.*529A>G) c.640A>G n.1713A>G c.*927A>G (n.*927A>G) c.1337A>G (p.Asn446Ser) c.1232A>G (p.Asn411Ser) n.320A>G c.1229A>G (p.Asn410Ser) c.1151A>G (p.Asn384Ser) c.1247A>G (p.Asn416Ser) c.*195A>G (n.*195A>G) n.1745A>G c.884A>G (p.Asn295Ser) c.1322A>G (p.Asn441Ser) c.1235A>G (p.Asn412Ser) c.1187A>G (p.Asn396Ser) c.899A>G (p.Asn300Ser) c.1334A>G (p.Asn445Ser) c.1319A>G (p.Asn440Ser) | |
| 8 | g.71216802T>G | CA371466799 | EYA1 | c.1250A>C (p.Asn417Thr) c.1148A>C (p.Asn383Thr) c.1145A>C (p.Asn382Thr) c.*529A>C (n.*529A>C) c.640A>C n.1713A>C c.*927A>C (n.*927A>C) c.1337A>C (p.Asn446Thr) c.1232A>C (p.Asn411Thr) n.320A>C c.1229A>C (p.Asn410Thr) c.1151A>C (p.Asn384Thr) c.1247A>C (p.Asn416Thr) c.*195A>C (n.*195A>C) n.1745A>C c.884A>C (p.Asn295Thr) c.1322A>C (p.Asn441Thr) c.1235A>C (p.Asn412Thr) c.1187A>C (p.Asn396Thr) c.899A>C (p.Asn300Thr) c.1334A>C (p.Asn445Thr) c.1319A>C (p.Asn440Thr) | |
| 8 | g.71216803T>A | CA371466800 | EYA1 | c.1249A>T (p.Asn417Tyr) c.1147A>T (p.Asn383Tyr) c.1144A>T (p.Asn382Tyr) c.*528A>T (n.*528A>T) c.639A>T n.1712A>T c.*926A>T (n.*926A>T) c.1336A>T (p.Asn446Tyr) c.1231A>T (p.Asn411Tyr) n.319A>T c.1228A>T (p.Asn410Tyr) c.1150A>T (p.Asn384Tyr) c.1246A>T (p.Asn416Tyr) c.*194A>T (n.*194A>T) n.1744A>T c.883A>T (p.Asn295Tyr) c.1321A>T (p.Asn441Tyr) c.1234A>T (p.Asn412Tyr) c.1186A>T (p.Asn396Tyr) c.898A>T (p.Asn300Tyr) c.1333A>T (p.Asn445Tyr) c.1318A>T (p.Asn440Tyr) | |
| 8 | g.71216803T>C | CA371466801 | EYA1 | c.1249A>G (p.Asn417Asp) c.1147A>G (p.Asn383Asp) c.1144A>G (p.Asn382Asp) c.*528A>G (n.*528A>G) c.639A>G n.1712A>G c.*926A>G (n.*926A>G) c.1336A>G (p.Asn446Asp) c.1231A>G (p.Asn411Asp) n.319A>G c.1228A>G (p.Asn410Asp) c.1150A>G (p.Asn384Asp) c.1246A>G (p.Asn416Asp) c.*194A>G (n.*194A>G) n.1744A>G c.883A>G (p.Asn295Asp) c.1321A>G (p.Asn441Asp) c.1234A>G (p.Asn412Asp) c.1186A>G (p.Asn396Asp) c.898A>G (p.Asn300Asp) c.1333A>G (p.Asn445Asp) c.1318A>G (p.Asn440Asp) | |
| 8 | g.71216803T>G | CA371466802 | EYA1 | c.1249A>C (p.Asn417His) c.1147A>C (p.Asn383His) c.1144A>C (p.Asn382His) c.*528A>C (n.*528A>C) c.639A>C n.1712A>C c.*926A>C (n.*926A>C) c.1336A>C (p.Asn446His) c.1231A>C (p.Asn411His) n.319A>C c.1228A>C (p.Asn410His) c.1150A>C (p.Asn384His) c.1246A>C (p.Asn416His) c.*194A>C (n.*194A>C) n.1744A>C c.883A>C (p.Asn295His) c.1321A>C (p.Asn441His) c.1234A>C (p.Asn412His) c.1186A>C (p.Asn396His) c.898A>C (p.Asn300His) c.1333A>C (p.Asn445His) c.1318A>C (p.Asn440His) | |
| 8 | g.71216804A>C | CA461434080 | EYA1 | c.1248T>G (p.Ala416=) c.1146T>G (p.Ala382=) c.1143T>G (p.Ala381=) c.*527T>G (n.*527T>G) c.638T>G n.1711T>G c.*925T>G (n.*925T>G) c.1335T>G (p.Ala445=) c.1230T>G (p.Ala410=) n.318T>G c.1227T>G (p.Ala409=) c.1149T>G (p.Ala383=) c.1245T>G (p.Ala415=) c.*193T>G (n.*193T>G) n.1743T>G c.882T>G (p.Ala294=) c.1320T>G (p.Ala440=) c.1233T>G (p.Ala411=) c.1185T>G (p.Ala395=) c.897T>G (p.Ala299=) c.1332T>G (p.Ala444=) c.1317T>G (p.Ala439=) | |
| 8 | g.71216804A>G | CA461434083 | EYA1 | c.1248T>C (p.Ala416=) c.1146T>C (p.Ala382=) c.1143T>C (p.Ala381=) c.*527T>C (n.*527T>C) c.638T>C n.1711T>C c.*925T>C (n.*925T>C) c.1335T>C (p.Ala445=) c.1230T>C (p.Ala410=) n.318T>C c.1227T>C (p.Ala409=) c.1149T>C (p.Ala383=) c.1245T>C (p.Ala415=) c.*193T>C (n.*193T>C) n.1743T>C c.882T>C (p.Ala294=) c.1320T>C (p.Ala440=) c.1233T>C (p.Ala411=) c.1185T>C (p.Ala395=) c.897T>C (p.Ala299=) c.1332T>C (p.Ala444=) c.1317T>C (p.Ala439=) | |
| 8 | g.71216804A>T | CA461434081 | EYA1 | c.1248T>A (p.Ala416=) c.1146T>A (p.Ala382=) c.1143T>A (p.Ala381=) c.*527T>A (n.*527T>A) c.638T>A n.1711T>A c.*925T>A (n.*925T>A) c.1335T>A (p.Ala445=) c.1230T>A (p.Ala410=) n.318T>A c.1227T>A (p.Ala409=) c.1149T>A (p.Ala383=) c.1245T>A (p.Ala415=) c.*193T>A (n.*193T>A) n.1743T>A c.882T>A (p.Ala294=) c.1320T>A (p.Ala440=) c.1233T>A (p.Ala411=) c.1185T>A (p.Ala395=) c.897T>A (p.Ala299=) c.1332T>A (p.Ala444=) c.1317T>A (p.Ala439=) | |
| 8 | g.71216804dup | CA2580078934 | EYA1 | c.1248dup (p.Asn417Ter) c.1146dup (p.Asn383Ter) c.1143dup (p.Asn382Ter) c.*527dup (n.*527dup) c.638dup n.1711dup c.*925dup (n.*925dup) c.1335dup (p.Asn446Ter) c.1230dup (p.Asn411Ter) n.318dup c.1227dup (p.Asn410Ter) c.1149dup (p.Asn384Ter) c.1245dup (p.Asn416Ter) c.*193dup (n.*193dup) n.1743dup c.882dup (p.Asn295Ter) c.1320dup (p.Asn441Ter) c.1233dup (p.Asn412Ter) c.1185dup (p.Asn396Ter) c.897dup (p.Asn300Ter) c.1332dup (p.Asn445Ter) c.1317dup (p.Asn440Ter) | ClinVar |
| 8 | g.71216808_71216822del | CA2687599701 | EYA1 | c.1234_1248del (p.Ala412_Ala416del) c.1132_1146del (p.Ala378_Ala382del) c.1129_1143del (p.Ala377_Ala381del) c.*513_*527del (n.*513_*527del) c.624_638del n.1697_1711del c.*911_*925del (n.*911_*925del) c.1321_1335del (p.Ala441_Ala445del) c.1216_1230del (p.Ala406_Ala410del) n.304_318del c.1213_1227del (p.Ala405_Ala409del) c.1135_1149del (p.Ala379_Ala383del) c.1231_1245del (p.Ala411_Ala415del) c.*179_*193del (n.*179_*193del) n.1729_1743del c.868_882del (p.Ala290_Ala294del) c.1306_1320del (p.Ala436_Ala440del) c.1219_1233del (p.Ala407_Ala411del) c.1171_1185del (p.Ala391_Ala395del) c.883_897del (p.Ala295_Ala299del) c.1318_1332del (p.Ala440_Ala444del) c.1303_1317del (p.Ala435_Ala439del) | gnomAD v4 |
| 8 | g.71216805G>A | CA371466803 | EYA1 | c.1247C>T (p.Ala416Val) c.1145C>T (p.Ala382Val) c.1142C>T (p.Ala381Val) c.*526C>T (n.*526C>T) c.637C>T n.1710C>T c.*924C>T (n.*924C>T) c.1334C>T (p.Ala445Val) c.1229C>T (p.Ala410Val) n.317C>T c.1226C>T (p.Ala409Val) c.1148C>T (p.Ala383Val) c.1244C>T (p.Ala415Val) c.*192C>T (n.*192C>T) n.1742C>T c.881C>T (p.Ala294Val) c.1319C>T (p.Ala440Val) c.1232C>T (p.Ala411Val) c.1184C>T (p.Ala395Val) c.896C>T (p.Ala299Val) c.1331C>T (p.Ala444Val) c.1316C>T (p.Ala439Val) | gnomAD v4 |
| 8 | g.71216805G>C | CA371466804 | EYA1 | c.1247C>G (p.Ala416Gly) c.1145C>G (p.Ala382Gly) c.1142C>G (p.Ala381Gly) c.*526C>G (n.*526C>G) c.637C>G n.1710C>G c.*924C>G (n.*924C>G) c.1334C>G (p.Ala445Gly) c.1229C>G (p.Ala410Gly) n.317C>G c.1226C>G (p.Ala409Gly) c.1148C>G (p.Ala383Gly) c.1244C>G (p.Ala415Gly) c.*192C>G (n.*192C>G) n.1742C>G c.881C>G (p.Ala294Gly) c.1319C>G (p.Ala440Gly) c.1232C>G (p.Ala411Gly) c.1184C>G (p.Ala395Gly) c.896C>G (p.Ala299Gly) c.1331C>G (p.Ala444Gly) c.1316C>G (p.Ala439Gly) | |
| 8 | g.71216805G>T | CA371466805 | EYA1 | c.1247C>A (p.Ala416Asp) c.1145C>A (p.Ala382Asp) c.1142C>A (p.Ala381Asp) c.*526C>A (n.*526C>A) c.637C>A n.1710C>A c.*924C>A (n.*924C>A) c.1334C>A (p.Ala445Asp) c.1229C>A (p.Ala410Asp) n.317C>A c.1226C>A (p.Ala409Asp) c.1148C>A (p.Ala383Asp) c.1244C>A (p.Ala415Asp) c.*192C>A (n.*192C>A) n.1742C>A c.881C>A (p.Ala294Asp) c.1319C>A (p.Ala440Asp) c.1232C>A (p.Ala411Asp) c.1184C>A (p.Ala395Asp) c.896C>A (p.Ala299Asp) c.1331C>A (p.Ala444Asp) c.1316C>A (p.Ala439Asp) | |
| 8 | g.71216806C>A | CA371466806 | EYA1 | c.1246G>T (p.Ala416Ser) c.1144G>T (p.Ala382Ser) c.1141G>T (p.Ala381Ser) c.*525G>T (n.*525G>T) c.636G>T n.1709G>T c.*923G>T (n.*923G>T) c.1333G>T (p.Ala445Ser) c.1228G>T (p.Ala410Ser) n.316G>T c.1225G>T (p.Ala409Ser) c.1147G>T (p.Ala383Ser) c.1243G>T (p.Ala415Ser) c.*191G>T (n.*191G>T) n.1741G>T c.880G>T (p.Ala294Ser) c.1318G>T (p.Ala440Ser) c.1231G>T (p.Ala411Ser) c.1183G>T (p.Ala395Ser) c.895G>T (p.Ala299Ser) c.1330G>T (p.Ala444Ser) c.1315G>T (p.Ala439Ser) | |
| 8 | g.71216806C>G | CA371466808 | EYA1 | c.1246G>C (p.Ala416Pro) c.1144G>C (p.Ala382Pro) c.1141G>C (p.Ala381Pro) c.*525G>C (n.*525G>C) c.636G>C n.1709G>C c.*923G>C (n.*923G>C) c.1333G>C (p.Ala445Pro) c.1228G>C (p.Ala410Pro) n.316G>C c.1225G>C (p.Ala409Pro) c.1147G>C (p.Ala383Pro) c.1243G>C (p.Ala415Pro) c.*191G>C (n.*191G>C) n.1741G>C c.880G>C (p.Ala294Pro) c.1318G>C (p.Ala440Pro) c.1231G>C (p.Ala411Pro) c.1183G>C (p.Ala395Pro) c.895G>C (p.Ala299Pro) c.1330G>C (p.Ala444Pro) c.1315G>C (p.Ala439Pro) | |
| 8 | g.71216806C>T | CA371466807 | EYA1 | c.1246G>A (p.Ala416Thr) c.1144G>A (p.Ala382Thr) c.1141G>A (p.Ala381Thr) c.*525G>A (n.*525G>A) c.636G>A n.1709G>A c.*923G>A (n.*923G>A) c.1333G>A (p.Ala445Thr) c.1228G>A (p.Ala410Thr) n.316G>A c.1225G>A (p.Ala409Thr) c.1147G>A (p.Ala383Thr) c.1243G>A (p.Ala415Thr) c.*191G>A (n.*191G>A) n.1741G>A c.880G>A (p.Ala294Thr) c.1318G>A (p.Ala440Thr) c.1231G>A (p.Ala411Thr) c.1183G>A (p.Ala395Thr) c.895G>A (p.Ala299Thr) c.1330G>A (p.Ala444Thr) c.1315G>A (p.Ala439Thr) | ClinVar |
| 8 | g.71216807A= | CA1792692902 | EYA1 | c.1245T= (p.Ser415=) c.1143T= (p.Ser381=) c.1140T= (p.Ser380=) c.*524T= (n.*524T=) c.635T= n.1708T= c.*922T= (n.*922T=) c.1332T= (p.Ser444=) c.1227T= (p.Ser409=) n.315T= c.1224T= (p.Ser408=) c.1146T= (p.Ser382=) c.1242T= (p.Ser414=) c.*190T= (n.*190T=) n.1740T= c.879T= (p.Ser293=) c.1317T= (p.Ser439=) c.1230T= (p.Ser410=) c.1182T= (p.Ser394=) c.894T= (p.Ser298=) c.1329T= (p.Ser443=) c.1314T= (p.Ser438=) | |
| 8 | g.71216807A>C | CA4779517 | EYA1 | c.1245T>G (p.Ser415Arg) c.1143T>G (p.Ser381Arg) c.1140T>G (p.Ser380Arg) c.*524T>G (n.*524T>G) c.635T>G n.1708T>G c.*922T>G (n.*922T>G) c.1332T>G (p.Ser444Arg) c.1227T>G (p.Ser409Arg) n.315T>G c.1224T>G (p.Ser408Arg) c.1146T>G (p.Ser382Arg) c.1242T>G (p.Ser414Arg) c.*190T>G (n.*190T>G) n.1740T>G c.879T>G (p.Ser293Arg) c.1317T>G (p.Ser439Arg) c.1230T>G (p.Ser410Arg) c.1182T>G (p.Ser394Arg) c.894T>G (p.Ser298Arg) c.1329T>G (p.Ser443Arg) c.1314T>G (p.Ser438Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.71216807A>G | CA461434086 | EYA1 | c.1245T>C (p.Ser415=) c.1143T>C (p.Ser381=) c.1140T>C (p.Ser380=) c.*524T>C (n.*524T>C) c.635T>C n.1708T>C c.*922T>C (n.*922T>C) c.1332T>C (p.Ser444=) c.1227T>C (p.Ser409=) n.315T>C c.1224T>C (p.Ser408=) c.1146T>C (p.Ser382=) c.1242T>C (p.Ser414=) c.*190T>C (n.*190T>C) n.1740T>C c.879T>C (p.Ser293=) c.1317T>C (p.Ser439=) c.1230T>C (p.Ser410=) c.1182T>C (p.Ser394=) c.894T>C (p.Ser298=) c.1329T>C (p.Ser443=) c.1314T>C (p.Ser438=) | |
| 8 | g.71216807A>T | CA371466809 | EYA1 | c.1245T>A (p.Ser415Arg) c.1143T>A (p.Ser381Arg) c.1140T>A (p.Ser380Arg) c.*524T>A (n.*524T>A) c.635T>A n.1708T>A c.*922T>A (n.*922T>A) c.1332T>A (p.Ser444Arg) c.1227T>A (p.Ser409Arg) n.315T>A c.1224T>A (p.Ser408Arg) c.1146T>A (p.Ser382Arg) c.1242T>A (p.Ser414Arg) c.*190T>A (n.*190T>A) n.1740T>A c.879T>A (p.Ser293Arg) c.1317T>A (p.Ser439Arg) c.1230T>A (p.Ser410Arg) c.1182T>A (p.Ser394Arg) c.894T>A (p.Ser298Arg) c.1329T>A (p.Ser443Arg) c.1314T>A (p.Ser438Arg) | |
| 8 | g.71216808C>A | CA371466810 | EYA1 | c.1244G>T (p.Ser415Ile) c.1142G>T (p.Ser381Ile) c.1139G>T (p.Ser380Ile) c.*523G>T (n.*523G>T) c.634G>T n.1707G>T c.*921G>T (n.*921G>T) c.1331G>T (p.Ser444Ile) c.1226G>T (p.Ser409Ile) n.314G>T c.1223G>T (p.Ser408Ile) c.1145G>T (p.Ser382Ile) c.1241G>T (p.Ser414Ile) c.*189G>T (n.*189G>T) n.1739G>T c.878G>T (p.Ser293Ile) c.1316G>T (p.Ser439Ile) c.1229G>T (p.Ser410Ile) c.1181G>T (p.Ser394Ile) c.893G>T (p.Ser298Ile) c.1328G>T (p.Ser443Ile) c.1313G>T (p.Ser438Ile) | |
| 8 | g.71216808C>G | CA371466811 | EYA1 | c.1244G>C (p.Ser415Thr) c.1142G>C (p.Ser381Thr) c.1139G>C (p.Ser380Thr) c.*523G>C (n.*523G>C) c.634G>C n.1707G>C c.*921G>C (n.*921G>C) c.1331G>C (p.Ser444Thr) c.1226G>C (p.Ser409Thr) n.314G>C c.1223G>C (p.Ser408Thr) c.1145G>C (p.Ser382Thr) c.1241G>C (p.Ser414Thr) c.*189G>C (n.*189G>C) n.1739G>C c.878G>C (p.Ser293Thr) c.1316G>C (p.Ser439Thr) c.1229G>C (p.Ser410Thr) c.1181G>C (p.Ser394Thr) c.893G>C (p.Ser298Thr) c.1328G>C (p.Ser443Thr) c.1313G>C (p.Ser438Thr) | |
| 8 | g.71216808C>T | CA371466812 | EYA1 | c.1244G>A (p.Ser415Asn) c.1142G>A (p.Ser381Asn) c.1139G>A (p.Ser380Asn) c.*523G>A (n.*523G>A) c.634G>A n.1707G>A c.*921G>A (n.*921G>A) c.1331G>A (p.Ser444Asn) c.1226G>A (p.Ser409Asn) n.314G>A c.1223G>A (p.Ser408Asn) c.1145G>A (p.Ser382Asn) c.1241G>A (p.Ser414Asn) c.*189G>A (n.*189G>A) n.1739G>A c.878G>A (p.Ser293Asn) c.1316G>A (p.Ser439Asn) c.1229G>A (p.Ser410Asn) c.1181G>A (p.Ser394Asn) c.893G>A (p.Ser298Asn) c.1328G>A (p.Ser443Asn) c.1313G>A (p.Ser438Asn) | |
| 8 | g.71216809T>A | CA371466813 | EYA1 | c.1243A>T (p.Ser415Cys) c.1141A>T (p.Ser381Cys) c.1138A>T (p.Ser380Cys) c.*522A>T (n.*522A>T) c.633A>T n.1706A>T c.*920A>T (n.*920A>T) c.1330A>T (p.Ser444Cys) c.1225A>T (p.Ser409Cys) n.313A>T c.1222A>T (p.Ser408Cys) c.1144A>T (p.Ser382Cys) c.1240A>T (p.Ser414Cys) c.*188A>T (n.*188A>T) n.1738A>T c.877A>T (p.Ser293Cys) c.1315A>T (p.Ser439Cys) c.1228A>T (p.Ser410Cys) c.1180A>T (p.Ser394Cys) c.892A>T (p.Ser298Cys) c.1327A>T (p.Ser443Cys) c.1312A>T (p.Ser438Cys) | |
| 8 | g.71216809T>C | CA371466814 | EYA1 | c.1243A>G (p.Ser415Gly) c.1141A>G (p.Ser381Gly) c.1138A>G (p.Ser380Gly) c.*522A>G (n.*522A>G) c.633A>G n.1706A>G c.*920A>G (n.*920A>G) c.1330A>G (p.Ser444Gly) c.1225A>G (p.Ser409Gly) n.313A>G c.1222A>G (p.Ser408Gly) c.1144A>G (p.Ser382Gly) c.1240A>G (p.Ser414Gly) c.*188A>G (n.*188A>G) n.1738A>G c.877A>G (p.Ser293Gly) c.1315A>G (p.Ser439Gly) c.1228A>G (p.Ser410Gly) c.1180A>G (p.Ser394Gly) c.892A>G (p.Ser298Gly) c.1327A>G (p.Ser443Gly) c.1312A>G (p.Ser438Gly) | gnomAD v4 |
| 8 | g.71216809T>G | CA371466815 | EYA1 | c.1243A>C (p.Ser415Arg) c.1141A>C (p.Ser381Arg) c.1138A>C (p.Ser380Arg) c.*522A>C (n.*522A>C) c.633A>C n.1706A>C c.*920A>C (n.*920A>C) c.1330A>C (p.Ser444Arg) c.1225A>C (p.Ser409Arg) n.313A>C c.1222A>C (p.Ser408Arg) c.1144A>C (p.Ser382Arg) c.1240A>C (p.Ser414Arg) c.*188A>C (n.*188A>C) n.1738A>C c.877A>C (p.Ser293Arg) c.1315A>C (p.Ser439Arg) c.1228A>C (p.Ser410Arg) c.1180A>C (p.Ser394Arg) c.892A>C (p.Ser298Arg) c.1327A>C (p.Ser443Arg) c.1312A>C (p.Ser438Arg) | |
| 8 | g.71216810G>A | CA461434094 | EYA1 | c.1242C>T (p.Thr414=) c.1140C>T (p.Thr380=) c.1137C>T (p.Thr379=) c.*521C>T (n.*521C>T) c.632C>T n.1705C>T c.*919C>T (n.*919C>T) c.1329C>T (p.Thr443=) c.1224C>T (p.Thr408=) n.312C>T c.1221C>T (p.Thr407=) c.1143C>T (p.Thr381=) c.1239C>T (p.Thr413=) c.*187C>T (n.*187C>T) n.1737C>T c.876C>T (p.Thr292=) c.1314C>T (p.Thr438=) c.1227C>T (p.Thr409=) c.1179C>T (p.Thr393=) c.891C>T (p.Thr297=) c.1326C>T (p.Thr442=) c.1311C>T (p.Thr437=) | gnomAD v4 |
| 8 | g.71216810G>C | CA461434093 | EYA1 | c.1242C>G (p.Thr414=) c.1140C>G (p.Thr380=) c.1137C>G (p.Thr379=) c.*521C>G (n.*521C>G) c.632C>G n.1705C>G c.*919C>G (n.*919C>G) c.1329C>G (p.Thr443=) c.1224C>G (p.Thr408=) n.312C>G c.1221C>G (p.Thr407=) c.1143C>G (p.Thr381=) c.1239C>G (p.Thr413=) c.*187C>G (n.*187C>G) n.1737C>G c.876C>G (p.Thr292=) c.1314C>G (p.Thr438=) c.1227C>G (p.Thr409=) c.1179C>G (p.Thr393=) c.891C>G (p.Thr297=) c.1326C>G (p.Thr442=) c.1311C>G (p.Thr437=) | |
| 8 | g.71216810G>T | CA461434095 | EYA1 | c.1242C>A (p.Thr414=) c.1140C>A (p.Thr380=) c.1137C>A (p.Thr379=) c.*521C>A (n.*521C>A) c.632C>A n.1705C>A c.*919C>A (n.*919C>A) c.1329C>A (p.Thr443=) c.1224C>A (p.Thr408=) n.312C>A c.1221C>A (p.Thr407=) c.1143C>A (p.Thr381=) c.1239C>A (p.Thr413=) c.*187C>A (n.*187C>A) n.1737C>A c.876C>A (p.Thr292=) c.1314C>A (p.Thr438=) c.1227C>A (p.Thr409=) c.1179C>A (p.Thr393=) c.891C>A (p.Thr297=) c.1326C>A (p.Thr442=) c.1311C>A (p.Thr437=) | |
| 8 | g.71216811G>A | CA371466816 | EYA1 | c.1241C>T (p.Thr414Ile) c.1139C>T (p.Thr380Ile) c.1136C>T (p.Thr379Ile) c.*520C>T (n.*520C>T) c.631C>T n.1704C>T c.*918C>T (n.*918C>T) c.1328C>T (p.Thr443Ile) c.1223C>T (p.Thr408Ile) n.311C>T c.1220C>T (p.Thr407Ile) c.1142C>T (p.Thr381Ile) c.1238C>T (p.Thr413Ile) c.*186C>T (n.*186C>T) n.1736C>T c.875C>T (p.Thr292Ile) c.1313C>T (p.Thr438Ile) c.1226C>T (p.Thr409Ile) c.1178C>T (p.Thr393Ile) c.890C>T (p.Thr297Ile) c.1325C>T (p.Thr442Ile) c.1310C>T (p.Thr437Ile) | |
| 8 | g.71216811G>C | CA371466817 | EYA1 | c.1241C>G (p.Thr414Ser) c.1139C>G (p.Thr380Ser) c.1136C>G (p.Thr379Ser) c.*520C>G (n.*520C>G) c.631C>G n.1704C>G c.*918C>G (n.*918C>G) c.1328C>G (p.Thr443Ser) c.1223C>G (p.Thr408Ser) n.311C>G c.1220C>G (p.Thr407Ser) c.1142C>G (p.Thr381Ser) c.1238C>G (p.Thr413Ser) c.*186C>G (n.*186C>G) n.1736C>G c.875C>G (p.Thr292Ser) c.1313C>G (p.Thr438Ser) c.1226C>G (p.Thr409Ser) c.1178C>G (p.Thr393Ser) c.890C>G (p.Thr297Ser) c.1325C>G (p.Thr442Ser) c.1310C>G (p.Thr437Ser) | |
| 8 | g.71216811G>T | CA371466818 | EYA1 | c.1241C>A (p.Thr414Asn) c.1139C>A (p.Thr380Asn) c.1136C>A (p.Thr379Asn) c.*520C>A (n.*520C>A) c.631C>A n.1704C>A c.*918C>A (n.*918C>A) c.1328C>A (p.Thr443Asn) c.1223C>A (p.Thr408Asn) n.311C>A c.1220C>A (p.Thr407Asn) c.1142C>A (p.Thr381Asn) c.1238C>A (p.Thr413Asn) c.*186C>A (n.*186C>A) n.1736C>A c.875C>A (p.Thr292Asn) c.1313C>A (p.Thr438Asn) c.1226C>A (p.Thr409Asn) c.1178C>A (p.Thr393Asn) c.890C>A (p.Thr297Asn) c.1325C>A (p.Thr442Asn) c.1310C>A (p.Thr437Asn) | |
| 8 | g.71216812T>A | CA371466820 | EYA1 | c.1240A>T (p.Thr414Ser) c.1138A>T (p.Thr380Ser) c.1135A>T (p.Thr379Ser) c.*519A>T (n.*519A>T) c.630A>T n.1703A>T c.*917A>T (n.*917A>T) c.1327A>T (p.Thr443Ser) c.1222A>T (p.Thr408Ser) n.310A>T c.1219A>T (p.Thr407Ser) c.1141A>T (p.Thr381Ser) c.1237A>T (p.Thr413Ser) c.*185A>T (n.*185A>T) n.1735A>T c.874A>T (p.Thr292Ser) c.1312A>T (p.Thr438Ser) c.1225A>T (p.Thr409Ser) c.1177A>T (p.Thr393Ser) c.889A>T (p.Thr297Ser) c.1324A>T (p.Thr442Ser) c.1309A>T (p.Thr437Ser) | |
| 8 | g.71216812T>C | CA371466821 | EYA1 | c.1240A>G (p.Thr414Ala) c.1138A>G (p.Thr380Ala) c.1135A>G (p.Thr379Ala) c.*519A>G (n.*519A>G) c.630A>G n.1703A>G c.*917A>G (n.*917A>G) c.1327A>G (p.Thr443Ala) c.1222A>G (p.Thr408Ala) n.310A>G c.1219A>G (p.Thr407Ala) c.1141A>G (p.Thr381Ala) c.1237A>G (p.Thr413Ala) c.*185A>G (n.*185A>G) n.1735A>G c.874A>G (p.Thr292Ala) c.1312A>G (p.Thr438Ala) c.1225A>G (p.Thr409Ala) c.1177A>G (p.Thr393Ala) c.889A>G (p.Thr297Ala) c.1324A>G (p.Thr442Ala) c.1309A>G (p.Thr437Ala) | |
| 8 | g.71216812T>G | CA371466819 | EYA1 | c.1240A>C (p.Thr414Pro) c.1138A>C (p.Thr380Pro) c.1135A>C (p.Thr379Pro) c.*519A>C (n.*519A>C) c.630A>C n.1703A>C c.*917A>C (n.*917A>C) c.1327A>C (p.Thr443Pro) c.1222A>C (p.Thr408Pro) n.310A>C c.1219A>C (p.Thr407Pro) c.1141A>C (p.Thr381Pro) c.1237A>C (p.Thr413Pro) c.*185A>C (n.*185A>C) n.1735A>C c.874A>C (p.Thr292Pro) c.1312A>C (p.Thr438Pro) c.1225A>C (p.Thr409Pro) c.1177A>C (p.Thr393Pro) c.889A>C (p.Thr297Pro) c.1324A>C (p.Thr442Pro) c.1309A>C (p.Thr437Pro) | gnomAD v4 |
| 8 | g.71216813T>A | CA461434099 | EYA1 | c.1239A>T (p.Ala413=) c.1137A>T (p.Ala379=) c.1134A>T (p.Ala378=) c.*518A>T (n.*518A>T) c.629A>T n.1702A>T c.*916A>T (n.*916A>T) c.1326A>T (p.Ala442=) c.1221A>T (p.Ala407=) n.309A>T c.1218A>T (p.Ala406=) c.1140A>T (p.Ala380=) c.1236A>T (p.Ala412=) c.*184A>T (n.*184A>T) n.1734A>T c.873A>T (p.Ala291=) c.1311A>T (p.Ala437=) c.1224A>T (p.Ala408=) c.1176A>T (p.Ala392=) c.888A>T (p.Ala296=) c.1323A>T (p.Ala441=) c.1308A>T (p.Ala436=) | |
| 8 | g.71216813T>C | CA461434100 | EYA1 | c.1239A>G (p.Ala413=) c.1137A>G (p.Ala379=) c.1134A>G (p.Ala378=) c.*518A>G (n.*518A>G) c.629A>G n.1702A>G c.*916A>G (n.*916A>G) c.1326A>G (p.Ala442=) c.1221A>G (p.Ala407=) n.309A>G c.1218A>G (p.Ala406=) c.1140A>G (p.Ala380=) c.1236A>G (p.Ala412=) c.*184A>G (n.*184A>G) n.1734A>G c.873A>G (p.Ala291=) c.1311A>G (p.Ala437=) c.1224A>G (p.Ala408=) c.1176A>G (p.Ala392=) c.888A>G (p.Ala296=) c.1323A>G (p.Ala441=) c.1308A>G (p.Ala436=) | |
| 8 | g.71216813T>G | CA461434101 | EYA1 | c.1239A>C (p.Ala413=) c.1137A>C (p.Ala379=) c.1134A>C (p.Ala378=) c.*518A>C (n.*518A>C) c.629A>C n.1702A>C c.*916A>C (n.*916A>C) c.1326A>C (p.Ala442=) c.1221A>C (p.Ala407=) n.309A>C c.1218A>C (p.Ala406=) c.1140A>C (p.Ala380=) c.1236A>C (p.Ala412=) c.*184A>C (n.*184A>C) n.1734A>C c.873A>C (p.Ala291=) c.1311A>C (p.Ala437=) c.1224A>C (p.Ala408=) c.1176A>C (p.Ala392=) c.888A>C (p.Ala296=) c.1323A>C (p.Ala441=) c.1308A>C (p.Ala436=) | |
| 8 | g.71216814G>A | CA371466824 | EYA1 | c.1238C>T (p.Ala413Val) c.1136C>T (p.Ala379Val) c.1133C>T (p.Ala378Val) c.*517C>T (n.*517C>T) c.628C>T n.1701C>T c.*915C>T (n.*915C>T) c.1325C>T (p.Ala442Val) c.1220C>T (p.Ala407Val) n.308C>T c.1217C>T (p.Ala406Val) c.1139C>T (p.Ala380Val) c.1235C>T (p.Ala412Val) c.*183C>T (n.*183C>T) n.1733C>T c.872C>T (p.Ala291Val) c.1310C>T (p.Ala437Val) c.1223C>T (p.Ala408Val) c.1175C>T (p.Ala392Val) c.887C>T (p.Ala296Val) c.1322C>T (p.Ala441Val) c.1307C>T (p.Ala436Val) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216814G>C | CA371466822 | EYA1 | c.1238C>G (p.Ala413Gly) c.1136C>G (p.Ala379Gly) c.1133C>G (p.Ala378Gly) c.*517C>G (n.*517C>G) c.628C>G n.1701C>G c.*915C>G (n.*915C>G) c.1325C>G (p.Ala442Gly) c.1220C>G (p.Ala407Gly) n.308C>G c.1217C>G (p.Ala406Gly) c.1139C>G (p.Ala380Gly) c.1235C>G (p.Ala412Gly) c.*183C>G (n.*183C>G) n.1733C>G c.872C>G (p.Ala291Gly) c.1310C>G (p.Ala437Gly) c.1223C>G (p.Ala408Gly) c.1175C>G (p.Ala392Gly) c.887C>G (p.Ala296Gly) c.1322C>G (p.Ala441Gly) c.1307C>G (p.Ala436Gly) | |
| 8 | g.71216814G= | CA1792692909 | EYA1 | c.1238C= (p.Ala413=) c.1136C= (p.Ala379=) c.1133C= (p.Ala378=) c.*517C= (n.*517C=) c.628C= n.1701C= c.*915C= (n.*915C=) c.1325C= (p.Ala442=) c.1220C= (p.Ala407=) n.308C= c.1217C= (p.Ala406=) c.1139C= (p.Ala380=) c.1235C= (p.Ala412=) c.*183C= (n.*183C=) n.1733C= c.872C= (p.Ala291=) c.1310C= (p.Ala437=) c.1223C= (p.Ala408=) c.1175C= (p.Ala392=) c.887C= (p.Ala296=) c.1322C= (p.Ala441=) c.1307C= (p.Ala436=) | |
| 8 | g.71216814G>T | CA371466823 | EYA1 | c.1238C>A (p.Ala413Glu) c.1136C>A (p.Ala379Glu) c.1133C>A (p.Ala378Glu) c.*517C>A (n.*517C>A) c.628C>A n.1701C>A c.*915C>A (n.*915C>A) c.1325C>A (p.Ala442Glu) c.1220C>A (p.Ala407Glu) n.308C>A c.1217C>A (p.Ala406Glu) c.1139C>A (p.Ala380Glu) c.1235C>A (p.Ala412Glu) c.*183C>A (n.*183C>A) n.1733C>A c.872C>A (p.Ala291Glu) c.1310C>A (p.Ala437Glu) c.1223C>A (p.Ala408Glu) c.1175C>A (p.Ala392Glu) c.887C>A (p.Ala296Glu) c.1322C>A (p.Ala441Glu) c.1307C>A (p.Ala436Glu) | |
| 8 | g.71216815C>A | CA371466825 | EYA1 | c.1237G>T (p.Ala413Ser) c.1135G>T (p.Ala379Ser) c.1132G>T (p.Ala378Ser) c.*516G>T (n.*516G>T) c.627G>T n.1700G>T c.*914G>T (n.*914G>T) c.1324G>T (p.Ala442Ser) c.1219G>T (p.Ala407Ser) n.307G>T c.1216G>T (p.Ala406Ser) c.1138G>T (p.Ala380Ser) c.1234G>T (p.Ala412Ser) c.*182G>T (n.*182G>T) n.1732G>T c.871G>T (p.Ala291Ser) c.1309G>T (p.Ala437Ser) c.1222G>T (p.Ala408Ser) c.1174G>T (p.Ala392Ser) c.886G>T (p.Ala296Ser) c.1321G>T (p.Ala441Ser) c.1306G>T (p.Ala436Ser) | |
| 8 | g.71216815C>G | CA371466826 | EYA1 | c.1237G>C (p.Ala413Pro) c.1135G>C (p.Ala379Pro) c.1132G>C (p.Ala378Pro) c.*516G>C (n.*516G>C) c.627G>C n.1700G>C c.*914G>C (n.*914G>C) c.1324G>C (p.Ala442Pro) c.1219G>C (p.Ala407Pro) n.307G>C c.1216G>C (p.Ala406Pro) c.1138G>C (p.Ala380Pro) c.1234G>C (p.Ala412Pro) c.*182G>C (n.*182G>C) n.1732G>C c.871G>C (p.Ala291Pro) c.1309G>C (p.Ala437Pro) c.1222G>C (p.Ala408Pro) c.1174G>C (p.Ala392Pro) c.886G>C (p.Ala296Pro) c.1321G>C (p.Ala441Pro) c.1306G>C (p.Ala436Pro) | |
| 8 | g.71216815C>T | CA371466827 | EYA1 | c.1237G>A (p.Ala413Thr) c.1135G>A (p.Ala379Thr) c.1132G>A (p.Ala378Thr) c.*516G>A (n.*516G>A) c.627G>A n.1700G>A c.*914G>A (n.*914G>A) c.1324G>A (p.Ala442Thr) c.1219G>A (p.Ala407Thr) n.307G>A c.1216G>A (p.Ala406Thr) c.1138G>A (p.Ala380Thr) c.1234G>A (p.Ala412Thr) c.*182G>A (n.*182G>A) n.1732G>A c.871G>A (p.Ala291Thr) c.1309G>A (p.Ala437Thr) c.1222G>A (p.Ala408Thr) c.1174G>A (p.Ala392Thr) c.886G>A (p.Ala296Thr) c.1321G>A (p.Ala441Thr) c.1306G>A (p.Ala436Thr) | |
| 8 | g.71216816T>A | CA461434108 | EYA1 | c.1236A>T (p.Ala412=) c.1134A>T (p.Ala378=) c.1131A>T (p.Ala377=) c.*515A>T (n.*515A>T) c.626A>T n.1699A>T c.*913A>T (n.*913A>T) c.1323A>T (p.Ala441=) c.1218A>T (p.Ala406=) n.306A>T c.1215A>T (p.Ala405=) c.1137A>T (p.Ala379=) c.1233A>T (p.Ala411=) c.*181A>T (n.*181A>T) n.1731A>T c.870A>T (p.Ala290=) c.1308A>T (p.Ala436=) c.1221A>T (p.Ala407=) c.1173A>T (p.Ala391=) c.885A>T (p.Ala295=) c.1320A>T (p.Ala440=) c.1305A>T (p.Ala435=) | gnomAD v4 |
| 8 | g.71216816T>C | CA461434110 | EYA1 | c.1236A>G (p.Ala412=) c.1134A>G (p.Ala378=) c.1131A>G (p.Ala377=) c.*515A>G (n.*515A>G) c.626A>G n.1699A>G c.*913A>G (n.*913A>G) c.1323A>G (p.Ala441=) c.1218A>G (p.Ala406=) n.306A>G c.1215A>G (p.Ala405=) c.1137A>G (p.Ala379=) c.1233A>G (p.Ala411=) c.*181A>G (n.*181A>G) n.1731A>G c.870A>G (p.Ala290=) c.1308A>G (p.Ala436=) c.1221A>G (p.Ala407=) c.1173A>G (p.Ala391=) c.885A>G (p.Ala295=) c.1320A>G (p.Ala440=) c.1305A>G (p.Ala435=) | |
| 8 | g.71216816T>G | CA461434112 | EYA1 | c.1236A>C (p.Ala412=) c.1134A>C (p.Ala378=) c.1131A>C (p.Ala377=) c.*515A>C (n.*515A>C) c.626A>C n.1699A>C c.*913A>C (n.*913A>C) c.1323A>C (p.Ala441=) c.1218A>C (p.Ala406=) n.306A>C c.1215A>C (p.Ala405=) c.1137A>C (p.Ala379=) c.1233A>C (p.Ala411=) c.*181A>C (n.*181A>C) n.1731A>C c.870A>C (p.Ala290=) c.1308A>C (p.Ala436=) c.1221A>C (p.Ala407=) c.1173A>C (p.Ala391=) c.885A>C (p.Ala295=) c.1320A>C (p.Ala440=) c.1305A>C (p.Ala435=) | |
| 8 | g.71216816dup | CA2573143311 | EYA1 | c.1236dup (p.Ala413SerfsTer5) c.1134dup (p.Ala379SerfsTer5) c.1131dup (p.Ala378SerfsTer5) c.*515dup (n.*515dup) c.626dup n.1699dup c.*913dup (n.*913dup) c.1323dup (p.Ala442SerfsTer5) c.1218dup (p.Ala407SerfsTer5) n.306dup c.1215dup (p.Ala406SerfsTer5) c.1137dup (p.Ala380SerfsTer5) c.1233dup (p.Ala412SerfsTer5) c.*181dup (n.*181dup) n.1731dup c.870dup (p.Ala291SerfsTer5) c.1308dup (p.Ala437SerfsTer5) c.1221dup (p.Ala408SerfsTer5) c.1173dup (p.Ala392SerfsTer5) c.885dup (p.Ala296SerfsTer5) c.1320dup (p.Ala441SerfsTer5) c.1305dup (p.Ala436SerfsTer5) | ClinVar dbSNP |
| 8 | g.71216817G>A | CA371466830 | EYA1 | c.1235C>T (p.Ala412Val) c.1133C>T (p.Ala378Val) c.1130C>T (p.Ala377Val) c.*514C>T (n.*514C>T) c.625C>T n.1698C>T c.*912C>T (n.*912C>T) c.1322C>T (p.Ala441Val) c.1217C>T (p.Ala406Val) n.305C>T c.1214C>T (p.Ala405Val) c.1136C>T (p.Ala379Val) c.1232C>T (p.Ala411Val) c.*180C>T (n.*180C>T) n.1730C>T c.869C>T (p.Ala290Val) c.1307C>T (p.Ala436Val) c.1220C>T (p.Ala407Val) c.1172C>T (p.Ala391Val) c.884C>T (p.Ala295Val) c.1319C>T (p.Ala440Val) c.1304C>T (p.Ala435Val) | |
| 8 | g.71216817G>C | CA371466829 | EYA1 | c.1235C>G (p.Ala412Gly) c.1133C>G (p.Ala378Gly) c.1130C>G (p.Ala377Gly) c.*514C>G (n.*514C>G) c.625C>G n.1698C>G c.*912C>G (n.*912C>G) c.1322C>G (p.Ala441Gly) c.1217C>G (p.Ala406Gly) n.305C>G c.1214C>G (p.Ala405Gly) c.1136C>G (p.Ala379Gly) c.1232C>G (p.Ala411Gly) c.*180C>G (n.*180C>G) n.1730C>G c.869C>G (p.Ala290Gly) c.1307C>G (p.Ala436Gly) c.1220C>G (p.Ala407Gly) c.1172C>G (p.Ala391Gly) c.884C>G (p.Ala295Gly) c.1319C>G (p.Ala440Gly) c.1304C>G (p.Ala435Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.71216817G= | CA1792692912 | EYA1 | c.1235C= (p.Ala412=) c.1133C= (p.Ala378=) c.1130C= (p.Ala377=) c.*514C= (n.*514C=) c.625C= n.1698C= c.*912C= (n.*912C=) c.1322C= (p.Ala441=) c.1217C= (p.Ala406=) n.305C= c.1214C= (p.Ala405=) c.1136C= (p.Ala379=) c.1232C= (p.Ala411=) c.*180C= (n.*180C=) n.1730C= c.869C= (p.Ala290=) c.1307C= (p.Ala436=) c.1220C= (p.Ala407=) c.1172C= (p.Ala391=) c.884C= (p.Ala295=) c.1319C= (p.Ala440=) c.1304C= (p.Ala435=) | |
| 8 | g.71216817G>T | CA371466828 | EYA1 | c.1235C>A (p.Ala412Glu) c.1133C>A (p.Ala378Glu) c.1130C>A (p.Ala377Glu) c.*514C>A (n.*514C>A) c.625C>A n.1698C>A c.*912C>A (n.*912C>A) c.1322C>A (p.Ala441Glu) c.1217C>A (p.Ala406Glu) n.305C>A c.1214C>A (p.Ala405Glu) c.1136C>A (p.Ala379Glu) c.1232C>A (p.Ala411Glu) c.*180C>A (n.*180C>A) n.1730C>A c.869C>A (p.Ala290Glu) c.1307C>A (p.Ala436Glu) c.1220C>A (p.Ala407Glu) c.1172C>A (p.Ala391Glu) c.884C>A (p.Ala295Glu) c.1319C>A (p.Ala440Glu) c.1304C>A (p.Ala435Glu) | |
| 8 | g.71216818C>A | CA371466831 | EYA1 | c.1234G>T (p.Ala412Ser) c.1132G>T (p.Ala378Ser) c.1129G>T (p.Ala377Ser) c.*513G>T (n.*513G>T) c.624G>T n.1697G>T c.*911G>T (n.*911G>T) c.1321G>T (p.Ala441Ser) c.1216G>T (p.Ala406Ser) n.304G>T c.1213G>T (p.Ala405Ser) c.1135G>T (p.Ala379Ser) c.1231G>T (p.Ala411Ser) c.*179G>T (n.*179G>T) n.1729G>T c.868G>T (p.Ala290Ser) c.1306G>T (p.Ala436Ser) c.1219G>T (p.Ala407Ser) c.1171G>T (p.Ala391Ser) c.883G>T (p.Ala295Ser) c.1318G>T (p.Ala440Ser) c.1303G>T (p.Ala435Ser) | |
| 8 | g.71216818C>G | CA371466832 | EYA1 | c.1234G>C (p.Ala412Pro) c.1132G>C (p.Ala378Pro) c.1129G>C (p.Ala377Pro) c.*513G>C (n.*513G>C) c.624G>C n.1697G>C c.*911G>C (n.*911G>C) c.1321G>C (p.Ala441Pro) c.1216G>C (p.Ala406Pro) n.304G>C c.1213G>C (p.Ala405Pro) c.1135G>C (p.Ala379Pro) c.1231G>C (p.Ala411Pro) c.*179G>C (n.*179G>C) n.1729G>C c.868G>C (p.Ala290Pro) c.1306G>C (p.Ala436Pro) c.1219G>C (p.Ala407Pro) c.1171G>C (p.Ala391Pro) c.883G>C (p.Ala295Pro) c.1318G>C (p.Ala440Pro) c.1303G>C (p.Ala435Pro) | |
| 8 | g.71216818C>T | CA371466833 | EYA1 | c.1234G>A (p.Ala412Thr) c.1132G>A (p.Ala378Thr) c.1129G>A (p.Ala377Thr) c.*513G>A (n.*513G>A) c.624G>A n.1697G>A c.*911G>A (n.*911G>A) c.1321G>A (p.Ala441Thr) c.1216G>A (p.Ala406Thr) n.304G>A c.1213G>A (p.Ala405Thr) c.1135G>A (p.Ala379Thr) c.1231G>A (p.Ala411Thr) c.*179G>A (n.*179G>A) n.1729G>A c.868G>A (p.Ala290Thr) c.1306G>A (p.Ala436Thr) c.1219G>A (p.Ala407Thr) c.1171G>A (p.Ala391Thr) c.883G>A (p.Ala295Thr) c.1318G>A (p.Ala440Thr) c.1303G>A (p.Ala435Thr) | gnomAD v4 |
| 8 | g.71216819A>C | CA461434117 | EYA1 | c.1233T>G (p.Ala411=) c.1131T>G (p.Ala377=) c.1128T>G (p.Ala376=) c.*512T>G (n.*512T>G) c.623T>G n.1696T>G c.*910T>G (n.*910T>G) c.1320T>G (p.Ala440=) c.1215T>G (p.Ala405=) n.303T>G c.1212T>G (p.Ala404=) c.1134T>G (p.Ala378=) c.1230T>G (p.Ala410=) c.*178T>G (n.*178T>G) n.1728T>G c.867T>G (p.Ala289=) c.1305T>G (p.Ala435=) c.1218T>G (p.Ala406=) c.1170T>G (p.Ala390=) c.882T>G (p.Ala294=) c.1317T>G (p.Ala439=) c.1302T>G (p.Ala434=) | gnomAD v4 |
| 8 | g.71216819A>G | CA461434118 | EYA1 | c.1233T>C (p.Ala411=) c.1131T>C (p.Ala377=) c.1128T>C (p.Ala376=) c.*512T>C (n.*512T>C) c.623T>C n.1696T>C c.*910T>C (n.*910T>C) c.1320T>C (p.Ala440=) c.1215T>C (p.Ala405=) n.303T>C c.1212T>C (p.Ala404=) c.1134T>C (p.Ala378=) c.1230T>C (p.Ala410=) c.*178T>C (n.*178T>C) n.1728T>C c.867T>C (p.Ala289=) c.1305T>C (p.Ala435=) c.1218T>C (p.Ala406=) c.1170T>C (p.Ala390=) c.882T>C (p.Ala294=) c.1317T>C (p.Ala439=) c.1302T>C (p.Ala434=) | |
| 8 | g.71216819A>T | CA461434120 | EYA1 | c.1233T>A (p.Ala411=) c.1131T>A (p.Ala377=) c.1128T>A (p.Ala376=) c.*512T>A (n.*512T>A) c.623T>A n.1696T>A c.*910T>A (n.*910T>A) c.1320T>A (p.Ala440=) c.1215T>A (p.Ala405=) n.303T>A c.1212T>A (p.Ala404=) c.1134T>A (p.Ala378=) c.1230T>A (p.Ala410=) c.*178T>A (n.*178T>A) n.1728T>A c.867T>A (p.Ala289=) c.1305T>A (p.Ala435=) c.1218T>A (p.Ala406=) c.1170T>A (p.Ala390=) c.882T>A (p.Ala294=) c.1317T>A (p.Ala439=) c.1302T>A (p.Ala434=) | |
| 8 | g.71216820G>A | CA371466834 | EYA1 | c.1232C>T (p.Ala411Val) c.1130C>T (p.Ala377Val) c.1127C>T (p.Ala376Val) c.*511C>T (n.*511C>T) c.622C>T n.1695C>T c.*909C>T (n.*909C>T) c.1319C>T (p.Ala440Val) c.1214C>T (p.Ala405Val) n.302C>T c.1211C>T (p.Ala404Val) c.1133C>T (p.Ala378Val) c.1229C>T (p.Ala410Val) c.*177C>T (n.*177C>T) n.1727C>T c.866C>T (p.Ala289Val) c.1304C>T (p.Ala435Val) c.1217C>T (p.Ala406Val) c.1169C>T (p.Ala390Val) c.881C>T (p.Ala294Val) c.1316C>T (p.Ala439Val) c.1301C>T (p.Ala434Val) | |
| 8 | g.71216820G>C | CA371466835 | EYA1 | c.1232C>G (p.Ala411Gly) c.1130C>G (p.Ala377Gly) c.1127C>G (p.Ala376Gly) c.*511C>G (n.*511C>G) c.622C>G n.1695C>G c.*909C>G (n.*909C>G) c.1319C>G (p.Ala440Gly) c.1214C>G (p.Ala405Gly) n.302C>G c.1211C>G (p.Ala404Gly) c.1133C>G (p.Ala378Gly) c.1229C>G (p.Ala410Gly) c.*177C>G (n.*177C>G) n.1727C>G c.866C>G (p.Ala289Gly) c.1304C>G (p.Ala435Gly) c.1217C>G (p.Ala406Gly) c.1169C>G (p.Ala390Gly) c.881C>G (p.Ala294Gly) c.1316C>G (p.Ala439Gly) c.1301C>G (p.Ala434Gly) | |
| 8 | g.71216820G>T | CA371466836 | EYA1 | c.1232C>A (p.Ala411Asp) c.1130C>A (p.Ala377Asp) c.1127C>A (p.Ala376Asp) c.*511C>A (n.*511C>A) c.622C>A n.1695C>A c.*909C>A (n.*909C>A) c.1319C>A (p.Ala440Asp) c.1214C>A (p.Ala405Asp) n.302C>A c.1211C>A (p.Ala404Asp) c.1133C>A (p.Ala378Asp) c.1229C>A (p.Ala410Asp) c.*177C>A (n.*177C>A) n.1727C>A c.866C>A (p.Ala289Asp) c.1304C>A (p.Ala435Asp) c.1217C>A (p.Ala406Asp) c.1169C>A (p.Ala390Asp) c.881C>A (p.Ala294Asp) c.1316C>A (p.Ala439Asp) c.1301C>A (p.Ala434Asp) | |
| 8 | g.71216821C>A | CA371466837 | EYA1 | c.1231G>T (p.Ala411Ser) c.1129G>T (p.Ala377Ser) c.1126G>T (p.Ala376Ser) c.*510G>T (n.*510G>T) c.621G>T n.1694G>T c.*908G>T (n.*908G>T) c.1318G>T (p.Ala440Ser) c.1213G>T (p.Ala405Ser) n.301G>T c.1210G>T (p.Ala404Ser) c.1132G>T (p.Ala378Ser) c.1228G>T (p.Ala410Ser) c.*176G>T (n.*176G>T) n.1726G>T c.865G>T (p.Ala289Ser) c.1303G>T (p.Ala435Ser) c.1216G>T (p.Ala406Ser) c.1168G>T (p.Ala390Ser) c.880G>T (p.Ala294Ser) c.1315G>T (p.Ala439Ser) c.1300G>T (p.Ala434Ser) | COSMIC COSMIC |
| 8 | g.71216821C= | CA1792692916 | EYA1 | c.1231G= (p.Ala411=) c.1129G= (p.Ala377=) c.1126G= (p.Ala376=) c.*510G= (n.*510G=) c.621G= n.1694G= c.*908G= (n.*908G=) c.1318G= (p.Ala440=) c.1213G= (p.Ala405=) n.301G= c.1210G= (p.Ala404=) c.1132G= (p.Ala378=) c.1228G= (p.Ala410=) c.*176G= (n.*176G=) n.1726G= c.865G= (p.Ala289=) c.1303G= (p.Ala435=) c.1216G= (p.Ala406=) c.1168G= (p.Ala390=) c.880G= (p.Ala294=) c.1315G= (p.Ala439=) c.1300G= (p.Ala434=) | |
| 8 | g.71216821C>G | CA371466839 | EYA1 | c.1231G>C (p.Ala411Pro) c.1129G>C (p.Ala377Pro) c.1126G>C (p.Ala376Pro) c.*510G>C (n.*510G>C) c.621G>C n.1694G>C c.*908G>C (n.*908G>C) c.1318G>C (p.Ala440Pro) c.1213G>C (p.Ala405Pro) n.301G>C c.1210G>C (p.Ala404Pro) c.1132G>C (p.Ala378Pro) c.1228G>C (p.Ala410Pro) c.*176G>C (n.*176G>C) n.1726G>C c.865G>C (p.Ala289Pro) c.1303G>C (p.Ala435Pro) c.1216G>C (p.Ala406Pro) c.1168G>C (p.Ala390Pro) c.880G>C (p.Ala294Pro) c.1315G>C (p.Ala439Pro) c.1300G>C (p.Ala434Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.71216821C>T | CA371466838 | EYA1 | c.1231G>A (p.Ala411Thr) c.1129G>A (p.Ala377Thr) c.1126G>A (p.Ala376Thr) c.*510G>A (n.*510G>A) c.621G>A n.1694G>A c.*908G>A (n.*908G>A) c.1318G>A (p.Ala440Thr) c.1213G>A (p.Ala405Thr) n.301G>A c.1210G>A (p.Ala404Thr) c.1132G>A (p.Ala378Thr) c.1228G>A (p.Ala410Thr) c.*176G>A (n.*176G>A) n.1726G>A c.865G>A (p.Ala289Thr) c.1303G>A (p.Ala435Thr) c.1216G>A (p.Ala406Thr) c.1168G>A (p.Ala390Thr) c.880G>A (p.Ala294Thr) c.1315G>A (p.Ala439Thr) c.1300G>A (p.Ala434Thr) | gnomAD v4 |
| 8 | g.71216822A>C | CA461434129 | EYA1 | c.1230T>G (p.Pro410=) c.1128T>G (p.Pro376=) c.1125T>G (p.Pro375=) c.*509T>G (n.*509T>G) c.620T>G n.1693T>G c.*907T>G (n.*907T>G) c.1317T>G (p.Pro439=) c.1212T>G (p.Pro404=) n.300T>G c.1209T>G (p.Pro403=) c.1131T>G (p.Pro377=) c.1227T>G (p.Pro409=) c.*175T>G (n.*175T>G) n.1725T>G c.864T>G (p.Pro288=) c.1302T>G (p.Pro434=) c.1215T>G (p.Pro405=) c.1167T>G (p.Pro389=) c.879T>G (p.Pro293=) c.1314T>G (p.Pro438=) c.1299T>G (p.Pro433=) | gnomAD v4 |
| 8 | g.71216822A>G | CA461434130 | EYA1 | c.1230T>C (p.Pro410=) c.1128T>C (p.Pro376=) c.1125T>C (p.Pro375=) c.*509T>C (n.*509T>C) c.620T>C n.1693T>C c.*907T>C (n.*907T>C) c.1317T>C (p.Pro439=) c.1212T>C (p.Pro404=) n.300T>C c.1209T>C (p.Pro403=) c.1131T>C (p.Pro377=) c.1227T>C (p.Pro409=) c.*175T>C (n.*175T>C) n.1725T>C c.864T>C (p.Pro288=) c.1302T>C (p.Pro434=) c.1215T>C (p.Pro405=) c.1167T>C (p.Pro389=) c.879T>C (p.Pro293=) c.1314T>C (p.Pro438=) c.1299T>C (p.Pro433=) | |
| 8 | g.71216822A>T | CA461434132 | EYA1 | c.1230T>A (p.Pro410=) c.1128T>A (p.Pro376=) c.1125T>A (p.Pro375=) c.*509T>A (n.*509T>A) c.620T>A n.1693T>A c.*907T>A (n.*907T>A) c.1317T>A (p.Pro439=) c.1212T>A (p.Pro404=) n.300T>A c.1209T>A (p.Pro403=) c.1131T>A (p.Pro377=) c.1227T>A (p.Pro409=) c.*175T>A (n.*175T>A) n.1725T>A c.864T>A (p.Pro288=) c.1302T>A (p.Pro434=) c.1215T>A (p.Pro405=) c.1167T>A (p.Pro389=) c.879T>A (p.Pro293=) c.1314T>A (p.Pro438=) c.1299T>A (p.Pro433=) | |
| 8 | g.71216823G>A | CA371466840 | EYA1 | c.1229C>T (p.Pro410Leu) c.1127C>T (p.Pro376Leu) c.1124C>T (p.Pro375Leu) c.*508C>T (n.*508C>T) c.619C>T n.1692C>T c.*906C>T (n.*906C>T) c.1316C>T (p.Pro439Leu) c.1211C>T (p.Pro404Leu) n.299C>T c.1208C>T (p.Pro403Leu) c.1130C>T (p.Pro377Leu) c.1226C>T (p.Pro409Leu) c.*174C>T (n.*174C>T) n.1724C>T c.863C>T (p.Pro288Leu) c.1301C>T (p.Pro434Leu) c.1214C>T (p.Pro405Leu) c.1166C>T (p.Pro389Leu) c.878C>T (p.Pro293Leu) c.1313C>T (p.Pro438Leu) c.1298C>T (p.Pro433Leu) | |
| 8 | g.71216823G>C | CA371466841 | EYA1 | c.1229C>G (p.Pro410Arg) c.1127C>G (p.Pro376Arg) c.1124C>G (p.Pro375Arg) c.*508C>G (n.*508C>G) c.619C>G n.1692C>G c.*906C>G (n.*906C>G) c.1316C>G (p.Pro439Arg) c.1211C>G (p.Pro404Arg) n.299C>G c.1208C>G (p.Pro403Arg) c.1130C>G (p.Pro377Arg) c.1226C>G (p.Pro409Arg) c.*174C>G (n.*174C>G) n.1724C>G c.863C>G (p.Pro288Arg) c.1301C>G (p.Pro434Arg) c.1214C>G (p.Pro405Arg) c.1166C>G (p.Pro389Arg) c.878C>G (p.Pro293Arg) c.1313C>G (p.Pro438Arg) c.1298C>G (p.Pro433Arg) | |
| 8 | g.71216823G>T | CA371466842 | EYA1 | c.1229C>A (p.Pro410His) c.1127C>A (p.Pro376His) c.1124C>A (p.Pro375His) c.*508C>A (n.*508C>A) c.619C>A n.1692C>A c.*906C>A (n.*906C>A) c.1316C>A (p.Pro439His) c.1211C>A (p.Pro404His) n.299C>A c.1208C>A (p.Pro403His) c.1130C>A (p.Pro377His) c.1226C>A (p.Pro409His) c.*174C>A (n.*174C>A) n.1724C>A c.863C>A (p.Pro288His) c.1301C>A (p.Pro434His) c.1214C>A (p.Pro405His) c.1166C>A (p.Pro389His) c.878C>A (p.Pro293His) c.1313C>A (p.Pro438His) c.1298C>A (p.Pro433His) | |
| 8 | g.71216824G>A | CA371466843 | EYA1 | c.1228C>T (p.Pro410Ser) c.1126C>T (p.Pro376Ser) c.1123C>T (p.Pro375Ser) c.*507C>T (n.*507C>T) c.618C>T n.1691C>T c.*905C>T (n.*905C>T) c.1315C>T (p.Pro439Ser) c.1210C>T (p.Pro404Ser) n.298C>T c.1207C>T (p.Pro403Ser) c.1129C>T (p.Pro377Ser) c.1225C>T (p.Pro409Ser) c.*173C>T (n.*173C>T) n.1723C>T c.862C>T (p.Pro288Ser) c.1300C>T (p.Pro434Ser) c.1213C>T (p.Pro405Ser) c.1165C>T (p.Pro389Ser) c.877C>T (p.Pro293Ser) c.1312C>T (p.Pro438Ser) c.1297C>T (p.Pro433Ser) | COSMIC COSMIC |
| 8 | g.71216824G>C | CA371466844 | EYA1 | c.1228C>G (p.Pro410Ala) c.1126C>G (p.Pro376Ala) c.1123C>G (p.Pro375Ala) c.*507C>G (n.*507C>G) c.618C>G n.1691C>G c.*905C>G (n.*905C>G) c.1315C>G (p.Pro439Ala) c.1210C>G (p.Pro404Ala) n.298C>G c.1207C>G (p.Pro403Ala) c.1129C>G (p.Pro377Ala) c.1225C>G (p.Pro409Ala) c.*173C>G (n.*173C>G) n.1723C>G c.862C>G (p.Pro288Ala) c.1300C>G (p.Pro434Ala) c.1213C>G (p.Pro405Ala) c.1165C>G (p.Pro389Ala) c.877C>G (p.Pro293Ala) c.1312C>G (p.Pro438Ala) c.1297C>G (p.Pro433Ala) | |
| 8 | g.71216824G>T | CA371466845 | EYA1 | c.1228C>A (p.Pro410Thr) c.1126C>A (p.Pro376Thr) c.1123C>A (p.Pro375Thr) c.*507C>A (n.*507C>A) c.618C>A n.1691C>A c.*905C>A (n.*905C>A) c.1315C>A (p.Pro439Thr) c.1210C>A (p.Pro404Thr) n.298C>A c.1207C>A (p.Pro403Thr) c.1129C>A (p.Pro377Thr) c.1225C>A (p.Pro409Thr) c.*173C>A (n.*173C>A) n.1723C>A c.862C>A (p.Pro288Thr) c.1300C>A (p.Pro434Thr) c.1213C>A (p.Pro405Thr) c.1165C>A (p.Pro389Thr) c.877C>A (p.Pro293Thr) c.1312C>A (p.Pro438Thr) c.1297C>A (p.Pro433Thr) | |
| 8 | g.71216825A>C | CA371466846 | EYA1 | c.1227T>G (p.Phe409Leu) c.1125T>G (p.Phe375Leu) c.1122T>G (p.Phe374Leu) c.*506T>G (n.*506T>G) c.617T>G n.1690T>G c.*904T>G (n.*904T>G) c.1314T>G (p.Phe438Leu) c.1209T>G (p.Phe403Leu) n.297T>G c.1206T>G (p.Phe402Leu) c.1128T>G (p.Phe376Leu) c.1224T>G (p.Phe408Leu) c.*172T>G (n.*172T>G) n.1722T>G c.861T>G (p.Phe287Leu) c.1299T>G (p.Phe433Leu) c.1212T>G (p.Phe404Leu) c.1164T>G (p.Phe388Leu) c.876T>G (p.Phe292Leu) c.1311T>G (p.Phe437Leu) c.1296T>G (p.Phe432Leu) | |
| 8 | g.71216825A>G | CA461434143 | EYA1 | c.1227T>C (p.Phe409=) c.1125T>C (p.Phe375=) c.1122T>C (p.Phe374=) c.*506T>C (n.*506T>C) c.617T>C n.1690T>C c.*904T>C (n.*904T>C) c.1314T>C (p.Phe438=) c.1209T>C (p.Phe403=) n.297T>C c.1206T>C (p.Phe402=) c.1128T>C (p.Phe376=) c.1224T>C (p.Phe408=) c.*172T>C (n.*172T>C) n.1722T>C c.861T>C (p.Phe287=) c.1299T>C (p.Phe433=) c.1212T>C (p.Phe404=) c.1164T>C (p.Phe388=) c.876T>C (p.Phe292=) c.1311T>C (p.Phe437=) c.1296T>C (p.Phe432=) | |
| 8 | g.71216825A>T | CA371466847 | EYA1 | c.1227T>A (p.Phe409Leu) c.1125T>A (p.Phe375Leu) c.1122T>A (p.Phe374Leu) c.*506T>A (n.*506T>A) c.617T>A n.1690T>A c.*904T>A (n.*904T>A) c.1314T>A (p.Phe438Leu) c.1209T>A (p.Phe403Leu) n.297T>A c.1206T>A (p.Phe402Leu) c.1128T>A (p.Phe376Leu) c.1224T>A (p.Phe408Leu) c.*172T>A (n.*172T>A) n.1722T>A c.861T>A (p.Phe287Leu) c.1299T>A (p.Phe433Leu) c.1212T>A (p.Phe404Leu) c.1164T>A (p.Phe388Leu) c.876T>A (p.Phe292Leu) c.1311T>A (p.Phe437Leu) c.1296T>A (p.Phe432Leu) | |
| 8 | g.71216826A>C | CA371466848 | EYA1 | c.1226T>G (p.Phe409Cys) c.1124T>G (p.Phe375Cys) c.1121T>G (p.Phe374Cys) c.*505T>G (n.*505T>G) c.616T>G n.1689T>G c.*903T>G (n.*903T>G) c.1313T>G (p.Phe438Cys) c.1208T>G (p.Phe403Cys) n.296T>G c.1205T>G (p.Phe402Cys) c.1127T>G (p.Phe376Cys) c.1223T>G (p.Phe408Cys) c.*171T>G (n.*171T>G) n.1721T>G c.860T>G (p.Phe287Cys) c.1298T>G (p.Phe433Cys) c.1211T>G (p.Phe404Cys) c.1163T>G (p.Phe388Cys) c.875T>G (p.Phe292Cys) c.1310T>G (p.Phe437Cys) c.1295T>G (p.Phe432Cys) | |
| 8 | g.71216826A>G | CA371466849 | EYA1 | c.1226T>C (p.Phe409Ser) c.1124T>C (p.Phe375Ser) c.1121T>C (p.Phe374Ser) c.*505T>C (n.*505T>C) c.616T>C n.1689T>C c.*903T>C (n.*903T>C) c.1313T>C (p.Phe438Ser) c.1208T>C (p.Phe403Ser) n.296T>C c.1205T>C (p.Phe402Ser) c.1127T>C (p.Phe376Ser) c.1223T>C (p.Phe408Ser) c.*171T>C (n.*171T>C) n.1721T>C c.860T>C (p.Phe287Ser) c.1298T>C (p.Phe433Ser) c.1211T>C (p.Phe404Ser) c.1163T>C (p.Phe388Ser) c.875T>C (p.Phe292Ser) c.1310T>C (p.Phe437Ser) c.1295T>C (p.Phe432Ser) | |
| 8 | g.71216826A>T | CA371466850 | EYA1 | c.1226T>A (p.Phe409Tyr) c.1124T>A (p.Phe375Tyr) c.1121T>A (p.Phe374Tyr) c.*505T>A (n.*505T>A) c.616T>A n.1689T>A c.*903T>A (n.*903T>A) c.1313T>A (p.Phe438Tyr) c.1208T>A (p.Phe403Tyr) n.296T>A c.1205T>A (p.Phe402Tyr) c.1127T>A (p.Phe376Tyr) c.1223T>A (p.Phe408Tyr) c.*171T>A (n.*171T>A) n.1721T>A c.860T>A (p.Phe287Tyr) c.1298T>A (p.Phe433Tyr) c.1211T>A (p.Phe404Tyr) c.1163T>A (p.Phe388Tyr) c.875T>A (p.Phe292Tyr) c.1310T>A (p.Phe437Tyr) c.1295T>A (p.Phe432Tyr) | |
| 8 | g.71216827A>C | CA371466853 | EYA1 | c.1225T>G (p.Phe409Val) c.1123T>G (p.Phe375Val) c.1120T>G (p.Phe374Val) c.*504T>G (n.*504T>G) c.615T>G n.1688T>G c.*902T>G (n.*902T>G) c.1312T>G (p.Phe438Val) c.1207T>G (p.Phe403Val) n.295T>G c.1204T>G (p.Phe402Val) c.1126T>G (p.Phe376Val) c.1222T>G (p.Phe408Val) c.*170T>G (n.*170T>G) n.1720T>G c.859T>G (p.Phe287Val) c.1297T>G (p.Phe433Val) c.1210T>G (p.Phe404Val) c.1162T>G (p.Phe388Val) c.874T>G (p.Phe292Val) c.1309T>G (p.Phe437Val) c.1294T>G (p.Phe432Val) | |
| 8 | g.71216827A>G | CA371466852 | EYA1 | c.1225T>C (p.Phe409Leu) c.1123T>C (p.Phe375Leu) c.1120T>C (p.Phe374Leu) c.*504T>C (n.*504T>C) c.615T>C n.1688T>C c.*902T>C (n.*902T>C) c.1312T>C (p.Phe438Leu) c.1207T>C (p.Phe403Leu) n.295T>C c.1204T>C (p.Phe402Leu) c.1126T>C (p.Phe376Leu) c.1222T>C (p.Phe408Leu) c.*170T>C (n.*170T>C) n.1720T>C c.859T>C (p.Phe287Leu) c.1297T>C (p.Phe433Leu) c.1210T>C (p.Phe404Leu) c.1162T>C (p.Phe388Leu) c.874T>C (p.Phe292Leu) c.1309T>C (p.Phe437Leu) c.1294T>C (p.Phe432Leu) | gnomAD v4 |
| 8 | g.71216827A>T | CA371466851 | EYA1 | c.1225T>A (p.Phe409Ile) c.1123T>A (p.Phe375Ile) c.1120T>A (p.Phe374Ile) c.*504T>A (n.*504T>A) c.615T>A n.1688T>A c.*902T>A (n.*902T>A) c.1312T>A (p.Phe438Ile) c.1207T>A (p.Phe403Ile) n.295T>A c.1204T>A (p.Phe402Ile) c.1126T>A (p.Phe376Ile) c.1222T>A (p.Phe408Ile) c.*170T>A (n.*170T>A) n.1720T>A c.859T>A (p.Phe287Ile) c.1297T>A (p.Phe433Ile) c.1210T>A (p.Phe404Ile) c.1162T>A (p.Phe388Ile) c.874T>A (p.Phe292Ile) c.1309T>A (p.Phe437Ile) c.1294T>A (p.Phe432Ile) | |
| 8 | g.71216828G>A | CA461433988 | EYA1 | c.1224C>T (p.Gly408=) c.1122C>T (p.Gly374=) c.1119C>T (p.Gly373=) c.*503C>T (n.*503C>T) c.614C>T n.1687C>T c.*901C>T (n.*901C>T) c.1311C>T (p.Gly437=) c.1206C>T (p.Gly402=) n.294C>T c.1203C>T (p.Gly401=) c.1125C>T (p.Gly375=) c.1221C>T (p.Gly407=) c.*169C>T (n.*169C>T) n.1719C>T c.858C>T (p.Gly286=) c.1296C>T (p.Gly432=) c.1209C>T (p.Gly403=) c.1161C>T (p.Gly387=) c.873C>T (p.Gly291=) c.1308C>T (p.Gly436=) c.1293C>T (p.Gly431=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 8 | g.71216828G>C | CA461433989 | EYA1 | c.1224C>G (p.Gly408=) c.1122C>G (p.Gly374=) c.1119C>G (p.Gly373=) c.*503C>G (n.*503C>G) c.614C>G n.1687C>G c.*901C>G (n.*901C>G) c.1311C>G (p.Gly437=) c.1206C>G (p.Gly402=) n.294C>G c.1203C>G (p.Gly401=) c.1125C>G (p.Gly375=) c.1221C>G (p.Gly407=) c.*169C>G (n.*169C>G) n.1719C>G c.858C>G (p.Gly286=) c.1296C>G (p.Gly432=) c.1209C>G (p.Gly403=) c.1161C>G (p.Gly387=) c.873C>G (p.Gly291=) c.1308C>G (p.Gly436=) c.1293C>G (p.Gly431=) | |
| 8 | g.71216828G= | CA1792692920 | EYA1 | c.1224C= (p.Gly408=) c.1122C= (p.Gly374=) c.1119C= (p.Gly373=) c.*503C= (n.*503C=) c.614C= n.1687C= c.*901C= (n.*901C=) c.1311C= (p.Gly437=) c.1206C= (p.Gly402=) n.294C= c.1203C= (p.Gly401=) c.1125C= (p.Gly375=) c.1221C= (p.Gly407=) c.*169C= (n.*169C=) n.1719C= c.858C= (p.Gly286=) c.1296C= (p.Gly432=) c.1209C= (p.Gly403=) c.1161C= (p.Gly387=) c.873C= (p.Gly291=) c.1308C= (p.Gly436=) c.1293C= (p.Gly431=) | |
| 8 | g.71216828G>T | CA461433990 | EYA1 | c.1224C>A (p.Gly408=) c.1122C>A (p.Gly374=) c.1119C>A (p.Gly373=) c.*503C>A (n.*503C>A) c.614C>A n.1687C>A c.*901C>A (n.*901C>A) c.1311C>A (p.Gly437=) c.1206C>A (p.Gly402=) n.294C>A c.1203C>A (p.Gly401=) c.1125C>A (p.Gly375=) c.1221C>A (p.Gly407=) c.*169C>A (n.*169C>A) n.1719C>A c.858C>A (p.Gly286=) c.1296C>A (p.Gly432=) c.1209C>A (p.Gly403=) c.1161C>A (p.Gly387=) c.873C>A (p.Gly291=) c.1308C>A (p.Gly436=) c.1293C>A (p.Gly431=) | |
| 8 | g.71216829C>A | CA371466854 | EYA1 | c.1223G>T (p.Gly408Val) c.1121G>T (p.Gly374Val) c.1118G>T (p.Gly373Val) c.*502G>T (n.*502G>T) c.613G>T n.1686G>T c.*900G>T (n.*900G>T) c.1310G>T (p.Gly437Val) c.1205G>T (p.Gly402Val) n.293G>T c.1202G>T (p.Gly401Val) c.1124G>T (p.Gly375Val) c.1220G>T (p.Gly407Val) c.*168G>T (n.*168G>T) n.1718G>T c.857G>T (p.Gly286Val) c.1295G>T (p.Gly432Val) c.1208G>T (p.Gly403Val) c.1160G>T (p.Gly387Val) c.872G>T (p.Gly291Val) c.1307G>T (p.Gly436Val) c.1292G>T (p.Gly431Val) | |
| 8 | g.71216829C>G | CA371466855 | EYA1 | c.1223G>C (p.Gly408Ala) c.1121G>C (p.Gly374Ala) c.1118G>C (p.Gly373Ala) c.*502G>C (n.*502G>C) c.613G>C n.1686G>C c.*900G>C (n.*900G>C) c.1310G>C (p.Gly437Ala) c.1205G>C (p.Gly402Ala) n.293G>C c.1202G>C (p.Gly401Ala) c.1124G>C (p.Gly375Ala) c.1220G>C (p.Gly407Ala) c.*168G>C (n.*168G>C) n.1718G>C c.857G>C (p.Gly286Ala) c.1295G>C (p.Gly432Ala) c.1208G>C (p.Gly403Ala) c.1160G>C (p.Gly387Ala) c.872G>C (p.Gly291Ala) c.1307G>C (p.Gly436Ala) c.1292G>C (p.Gly431Ala) | |
| 8 | g.71216829C>T | CA371466856 | EYA1 | c.1223G>A (p.Gly408Asp) c.1121G>A (p.Gly374Asp) c.1118G>A (p.Gly373Asp) c.*502G>A (n.*502G>A) c.613G>A n.1686G>A c.*900G>A (n.*900G>A) c.1310G>A (p.Gly437Asp) c.1205G>A (p.Gly402Asp) n.293G>A c.1202G>A (p.Gly401Asp) c.1124G>A (p.Gly375Asp) c.1220G>A (p.Gly407Asp) c.*168G>A (n.*168G>A) n.1718G>A c.857G>A (p.Gly286Asp) c.1295G>A (p.Gly432Asp) c.1208G>A (p.Gly403Asp) c.1160G>A (p.Gly387Asp) c.872G>A (p.Gly291Asp) c.1307G>A (p.Gly436Asp) c.1292G>A (p.Gly431Asp) | ClinVar |
| 8 | g.71216830C>A | CA371466857 | EYA1 | c.1222G>T (p.Gly408Cys) c.1120G>T (p.Gly374Cys) c.1117G>T (p.Gly373Cys) c.*501G>T (n.*501G>T) c.612G>T n.1685G>T c.*899G>T (n.*899G>T) c.1309G>T (p.Gly437Cys) c.1204G>T (p.Gly402Cys) n.292G>T c.1201G>T (p.Gly401Cys) c.1123G>T (p.Gly375Cys) c.1219G>T (p.Gly407Cys) c.*167G>T (n.*167G>T) n.1717G>T c.856G>T (p.Gly286Cys) c.1294G>T (p.Gly432Cys) c.1207G>T (p.Gly403Cys) c.1159G>T (p.Gly387Cys) c.871G>T (p.Gly291Cys) c.1306G>T (p.Gly436Cys) c.1291G>T (p.Gly431Cys) | |
| 8 | g.71216830C>G | CA371466858 | EYA1 | c.1222G>C (p.Gly408Arg) c.1120G>C (p.Gly374Arg) c.1117G>C (p.Gly373Arg) c.*501G>C (n.*501G>C) c.612G>C n.1685G>C c.*899G>C (n.*899G>C) c.1309G>C (p.Gly437Arg) c.1204G>C (p.Gly402Arg) n.292G>C c.1201G>C (p.Gly401Arg) c.1123G>C (p.Gly375Arg) c.1219G>C (p.Gly407Arg) c.*167G>C (n.*167G>C) n.1717G>C c.856G>C (p.Gly286Arg) c.1294G>C (p.Gly432Arg) c.1207G>C (p.Gly403Arg) c.1159G>C (p.Gly387Arg) c.871G>C (p.Gly291Arg) c.1306G>C (p.Gly436Arg) c.1291G>C (p.Gly431Arg) | |
| 8 | g.71216830C>T | CA371466859 | EYA1 | c.1222G>A (p.Gly408Ser) c.1120G>A (p.Gly374Ser) c.1117G>A (p.Gly373Ser) c.*501G>A (n.*501G>A) c.612G>A n.1685G>A c.*899G>A (n.*899G>A) c.1309G>A (p.Gly437Ser) c.1204G>A (p.Gly402Ser) n.292G>A c.1201G>A (p.Gly401Ser) c.1123G>A (p.Gly375Ser) c.1219G>A (p.Gly407Ser) c.*167G>A (n.*167G>A) n.1717G>A c.856G>A (p.Gly286Ser) c.1294G>A (p.Gly432Ser) c.1207G>A (p.Gly403Ser) c.1159G>A (p.Gly387Ser) c.871G>A (p.Gly291Ser) c.1306G>A (p.Gly436Ser) c.1291G>A (p.Gly431Ser) | |
| 8 | g.71216831del | CA2687599702 | EYA1 | c.1221del (p.Asp407GlufsTer25) c.1119del (p.Asp373GlufsTer25) c.1116del (p.Asp372GlufsTer25) c.*500del (n.*500del) c.611del n.1684del c.*898del (n.*898del) c.1308del (p.Asp436GlufsTer25) c.1203del (p.Asp401GlufsTer25) n.291del c.1200del (p.Asp400GlufsTer25) c.1122del (p.Asp374GlufsTer25) c.1218del (p.Asp406GlufsTer25) c.*166del (n.*166del) n.1716del c.855del (p.Asp285GlufsTer25) c.1293del (p.Asp431GlufsTer25) c.1206del (p.Asp402GlufsTer25) c.1158del (p.Asp386GlufsTer25) c.870del (p.Asp290GlufsTer25) c.1305del (p.Asp435GlufsTer25) c.1290del (p.Asp430GlufsTer25) | gnomAD v4 |
| 8 | g.71216831A>C | CA371466861 | EYA1 | c.1221T>G (p.Asp407Glu) c.1119T>G (p.Asp373Glu) c.1116T>G (p.Asp372Glu) c.*500T>G (n.*500T>G) c.611T>G n.1684T>G c.*898T>G (n.*898T>G) c.1308T>G (p.Asp436Glu) c.1203T>G (p.Asp401Glu) n.291T>G c.1200T>G (p.Asp400Glu) c.1122T>G (p.Asp374Glu) c.1218T>G (p.Asp406Glu) c.*166T>G (n.*166T>G) n.1716T>G c.855T>G (p.Asp285Glu) c.1293T>G (p.Asp431Glu) c.1206T>G (p.Asp402Glu) c.1158T>G (p.Asp386Glu) c.870T>G (p.Asp290Glu) c.1305T>G (p.Asp435Glu) c.1290T>G (p.Asp430Glu) | |
| 8 | g.71216831A>G | CA461433991 | EYA1 | c.1221T>C (p.Asp407=) c.1119T>C (p.Asp373=) c.1116T>C (p.Asp372=) c.*500T>C (n.*500T>C) c.611T>C n.1684T>C c.*898T>C (n.*898T>C) c.1308T>C (p.Asp436=) c.1203T>C (p.Asp401=) n.291T>C c.1200T>C (p.Asp400=) c.1122T>C (p.Asp374=) c.1218T>C (p.Asp406=) c.*166T>C (n.*166T>C) n.1716T>C c.855T>C (p.Asp285=) c.1293T>C (p.Asp431=) c.1206T>C (p.Asp402=) c.1158T>C (p.Asp386=) c.870T>C (p.Asp290=) c.1305T>C (p.Asp435=) c.1290T>C (p.Asp430=) | |
| 8 | g.71216831A>T | CA371466860 | EYA1 | c.1221T>A (p.Asp407Glu) c.1119T>A (p.Asp373Glu) c.1116T>A (p.Asp372Glu) c.*500T>A (n.*500T>A) c.611T>A n.1684T>A c.*898T>A (n.*898T>A) c.1308T>A (p.Asp436Glu) c.1203T>A (p.Asp401Glu) n.291T>A c.1200T>A (p.Asp400Glu) c.1122T>A (p.Asp374Glu) c.1218T>A (p.Asp406Glu) c.*166T>A (n.*166T>A) n.1716T>A c.855T>A (p.Asp285Glu) c.1293T>A (p.Asp431Glu) c.1206T>A (p.Asp402Glu) c.1158T>A (p.Asp386Glu) c.870T>A (p.Asp290Glu) c.1305T>A (p.Asp435Glu) c.1290T>A (p.Asp430Glu) | |
| 8 | g.71216832T>A | CA371466862 | EYA1 | c.1220A>T (p.Asp407Val) c.1118A>T (p.Asp373Val) c.1115A>T (p.Asp372Val) c.*499A>T (n.*499A>T) c.610A>T n.1683A>T c.*897A>T (n.*897A>T) c.1307A>T (p.Asp436Val) c.1202A>T (p.Asp401Val) n.290A>T c.1199A>T (p.Asp400Val) c.1121A>T (p.Asp374Val) c.1217A>T (p.Asp406Val) c.*165A>T (n.*165A>T) n.1715A>T c.854A>T (p.Asp285Val) c.1292A>T (p.Asp431Val) c.1205A>T (p.Asp402Val) c.1157A>T (p.Asp386Val) c.869A>T (p.Asp290Val) c.1304A>T (p.Asp435Val) c.1289A>T (p.Asp430Val) | |
| 8 | g.71216832T>C | CA371466863 | EYA1 | c.1220A>G (p.Asp407Gly) c.1118A>G (p.Asp373Gly) c.1115A>G (p.Asp372Gly) c.*499A>G (n.*499A>G) c.610A>G n.1683A>G c.*897A>G (n.*897A>G) c.1307A>G (p.Asp436Gly) c.1202A>G (p.Asp401Gly) n.290A>G c.1199A>G (p.Asp400Gly) c.1121A>G (p.Asp374Gly) c.1217A>G (p.Asp406Gly) c.*165A>G (n.*165A>G) n.1715A>G c.854A>G (p.Asp285Gly) c.1292A>G (p.Asp431Gly) c.1205A>G (p.Asp402Gly) c.1157A>G (p.Asp386Gly) c.869A>G (p.Asp290Gly) c.1304A>G (p.Asp435Gly) c.1289A>G (p.Asp430Gly) | |
| 8 | g.71216832T>G | CA371466864 | EYA1 | c.1220A>C (p.Asp407Ala) c.1118A>C (p.Asp373Ala) c.1115A>C (p.Asp372Ala) c.*499A>C (n.*499A>C) c.610A>C n.1683A>C c.*897A>C (n.*897A>C) c.1307A>C (p.Asp436Ala) c.1202A>C (p.Asp401Ala) n.290A>C c.1199A>C (p.Asp400Ala) c.1121A>C (p.Asp374Ala) c.1217A>C (p.Asp406Ala) c.*165A>C (n.*165A>C) n.1715A>C c.854A>C (p.Asp285Ala) c.1292A>C (p.Asp431Ala) c.1205A>C (p.Asp402Ala) c.1157A>C (p.Asp386Ala) c.869A>C (p.Asp290Ala) c.1304A>C (p.Asp435Ala) c.1289A>C (p.Asp430Ala) | |
| 8 | g.71216833C>A | CA371466865 | EYA1 | c.1219G>T (p.Asp407Tyr) c.1117G>T (p.Asp373Tyr) c.1114G>T (p.Asp372Tyr) c.*498G>T (n.*498G>T) c.609G>T n.1682G>T c.*896G>T (n.*896G>T) c.1306G>T (p.Asp436Tyr) c.1201G>T (p.Asp401Tyr) n.289G>T c.1198G>T (p.Asp400Tyr) c.1120G>T (p.Asp374Tyr) c.1216G>T (p.Asp406Tyr) c.*164G>T (n.*164G>T) n.1714G>T c.853G>T (p.Asp285Tyr) c.1291G>T (p.Asp431Tyr) c.1204G>T (p.Asp402Tyr) c.1156G>T (p.Asp386Tyr) c.868G>T (p.Asp290Tyr) c.1303G>T (p.Asp435Tyr) c.1288G>T (p.Asp430Tyr) | |
| 8 | g.71216833C>G | CA371466866 | EYA1 | c.1219G>C (p.Asp407His) c.1117G>C (p.Asp373His) c.1114G>C (p.Asp372His) c.*498G>C (n.*498G>C) c.609G>C n.1682G>C c.*896G>C (n.*896G>C) c.1306G>C (p.Asp436His) c.1201G>C (p.Asp401His) n.289G>C c.1198G>C (p.Asp400His) c.1120G>C (p.Asp374His) c.1216G>C (p.Asp406His) c.*164G>C (n.*164G>C) n.1714G>C c.853G>C (p.Asp285His) c.1291G>C (p.Asp431His) c.1204G>C (p.Asp402His) c.1156G>C (p.Asp386His) c.868G>C (p.Asp290His) c.1303G>C (p.Asp435His) c.1288G>C (p.Asp430His) | gnomAD v4 |
| 8 | g.71216833C>T | CA371466867 | EYA1 | c.1219G>A (p.Asp407Asn) c.1117G>A (p.Asp373Asn) c.1114G>A (p.Asp372Asn) c.*498G>A (n.*498G>A) c.609G>A n.1682G>A c.*896G>A (n.*896G>A) c.1306G>A (p.Asp436Asn) c.1201G>A (p.Asp401Asn) n.289G>A c.1198G>A (p.Asp400Asn) c.1120G>A (p.Asp374Asn) c.1216G>A (p.Asp406Asn) c.*164G>A (n.*164G>A) n.1714G>A c.853G>A (p.Asp285Asn) c.1291G>A (p.Asp431Asn) c.1204G>A (p.Asp402Asn) c.1156G>A (p.Asp386Asn) c.868G>A (p.Asp290Asn) c.1303G>A (p.Asp435Asn) c.1288G>A (p.Asp430Asn) | |
| 8 | g.71216834T>A | CA461434006 | EYA1 | c.1218A>T (p.Thr406=) c.1116A>T (p.Thr372=) c.1113A>T (p.Thr371=) c.*497A>T (n.*497A>T) c.608A>T n.1681A>T c.*895A>T (n.*895A>T) c.1305A>T (p.Thr435=) c.1200A>T (p.Thr400=) n.288A>T c.1197A>T (p.Thr399=) c.1119A>T (p.Thr373=) c.1215A>T (p.Thr405=) c.*163A>T (n.*163A>T) n.1713A>T c.852A>T (p.Thr284=) c.1290A>T (p.Thr430=) c.1203A>T (p.Thr401=) c.1155A>T (p.Thr385=) c.867A>T (p.Thr289=) c.1302A>T (p.Thr434=) c.1287A>T (p.Thr429=) | |
| 8 | g.71216834T>C | CA461434000 | EYA1 | c.1218A>G (p.Thr406=) c.1116A>G (p.Thr372=) c.1113A>G (p.Thr371=) c.*497A>G (n.*497A>G) c.608A>G n.1681A>G c.*895A>G (n.*895A>G) c.1305A>G (p.Thr435=) c.1200A>G (p.Thr400=) n.288A>G c.1197A>G (p.Thr399=) c.1119A>G (p.Thr373=) c.1215A>G (p.Thr405=) c.*163A>G (n.*163A>G) n.1713A>G c.852A>G (p.Thr284=) c.1290A>G (p.Thr430=) c.1203A>G (p.Thr401=) c.1155A>G (p.Thr385=) c.867A>G (p.Thr289=) c.1302A>G (p.Thr434=) c.1287A>G (p.Thr429=) | |
| 8 | g.71216834T>G | CA461433998 | EYA1 | c.1218A>C (p.Thr406=) c.1116A>C (p.Thr372=) c.1113A>C (p.Thr371=) c.*497A>C (n.*497A>C) c.608A>C n.1681A>C c.*895A>C (n.*895A>C) c.1305A>C (p.Thr435=) c.1200A>C (p.Thr400=) n.288A>C c.1197A>C (p.Thr399=) c.1119A>C (p.Thr373=) c.1215A>C (p.Thr405=) c.*163A>C (n.*163A>C) n.1713A>C c.852A>C (p.Thr284=) c.1290A>C (p.Thr430=) c.1203A>C (p.Thr401=) c.1155A>C (p.Thr385=) c.867A>C (p.Thr289=) c.1302A>C (p.Thr434=) c.1287A>C (p.Thr429=) |