| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.30885994C>A | CA389348409 | COCH | c.1354C>A (p.Leu452Ile) c.1159C>A (p.Leu387Ile) c.1216C>A (p.Leu406Ile) n.1461C>A c.823C>A (p.Leu275Ile) c.810C>A n.871G>T | |
| 14 | g.30885994C= | CA2126958391 | COCH | c.1354C= (p.Leu452=) c.1159C= (p.Leu387=) c.1216C= (p.Leu406=) n.1461C= c.823C= (p.Leu275=) c.810C= n.871G= | |
| 14 | g.30885994C>G | CA389348410 | COCH | c.1354C>G (p.Leu452Val) c.1159C>G (p.Leu387Val) c.1216C>G (p.Leu406Val) n.1461C>G c.823C>G (p.Leu275Val) c.810C>G n.871G>C | |
| 14 | g.30885994C>T | CA10581510 | COCH | c.1354C>T (p.Leu452Phe) c.1159C>T (p.Leu387Phe) c.1216C>T (p.Leu406Phe) n.1461C>T c.823C>T (p.Leu275Phe) c.810C>T n.871G>A | ClinVar dbSNP |
| 14 | g.30885995T>A | CA7143279 | COCH | c.1355T>A (p.Leu452His) c.1160T>A (p.Leu387His) c.1217T>A (p.Leu406His) n.1462T>A c.824T>A (p.Leu275His) c.811T>A n.870A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.30885995T>C | CA389348411 | COCH | c.1355T>C (p.Leu452Pro) c.1160T>C (p.Leu387Pro) c.1217T>C (p.Leu406Pro) n.1462T>C c.824T>C (p.Leu275Pro) c.811T>C n.870A>G | |
| 14 | g.30885995T>G | CA258541071 | COCH | c.1355T>G (p.Leu452Arg) c.1160T>G (p.Leu387Arg) c.1217T>G (p.Leu406Arg) n.1462T>G c.824T>G (p.Leu275Arg) c.811T>G n.870A>C | dbSNP |
| 14 | g.30885995T= | CA2126958395 | COCH | c.1355T= (p.Leu452=) c.1160T= (p.Leu387=) c.1217T= (p.Leu406=) n.1462T= c.824T= (p.Leu275=) c.811T= n.870A= | |
| 14 | g.30885996T>A | CA486083926 | COCH | c.1356T>A (p.Leu452=) c.1161T>A (p.Leu387=) c.1218T>A (p.Leu406=) n.1463T>A c.825T>A (p.Leu275=) c.812T>A n.869A>T | |
| 14 | g.30885996T>C | CA486083928 | COCH | c.1356T>C (p.Leu452=) c.1161T>C (p.Leu387=) c.1218T>C (p.Leu406=) n.1463T>C c.825T>C (p.Leu275=) c.812T>C n.869A>G | |
| 14 | g.30885996T>G | CA486083930 | COCH | c.1356T>G (p.Leu452=) c.1161T>G (p.Leu387=) c.1218T>G (p.Leu406=) n.1463T>G c.825T>G (p.Leu275=) c.812T>G n.869A>C | |
| 14 | g.30885997G>A | CA389348414 | COCH | c.1357G>A (p.Glu453Lys) c.1162G>A (p.Glu388Lys) c.1219G>A (p.Glu407Lys) n.1464G>A c.826G>A (p.Glu276Lys) c.813G>A n.868C>T | |
| 14 | g.30885997G>C | CA389348412 | COCH | c.1357G>C (p.Glu453Gln) c.1162G>C (p.Glu388Gln) c.1219G>C (p.Glu407Gln) n.1464G>C c.826G>C (p.Glu276Gln) c.813G>C n.868C>G | gnomAD v4 |
| 14 | g.30885997G>T | CA389348413 | COCH | c.1357G>T (p.Glu453Ter) c.1162G>T (p.Glu388Ter) c.1219G>T (p.Glu407Ter) n.1464G>T c.826G>T (p.Glu276Ter) c.813G>T n.868C>A | |
| 14 | g.30885998A= | CA2126958400 | COCH | c.1358A= (p.Glu453=) c.1163A= (p.Glu388=) c.1220A= (p.Glu407=) n.1465A= c.827A= (p.Glu276=) c.814A= n.867T= | |
| 14 | g.30885998A>C | CA389348415 | COCH | c.1358A>C (p.Glu453Ala) c.1163A>C (p.Glu388Ala) c.1220A>C (p.Glu407Ala) n.1465A>C c.827A>C (p.Glu276Ala) c.814A>C n.867T>G | |
| 14 | g.30885998A>G | CA389348416 | COCH | c.1358A>G (p.Glu453Gly) c.1163A>G (p.Glu388Gly) c.1220A>G (p.Glu407Gly) n.1465A>G c.827A>G (p.Glu276Gly) c.814A>G n.867T>C | ClinVar dbSNP gnomAD v4 |
| 14 | g.30885998A>T | CA389348417 | COCH | c.1358A>T (p.Glu453Val) c.1163A>T (p.Glu388Val) c.1220A>T (p.Glu407Val) n.1465A>T c.827A>T (p.Glu276Val) c.814A>T n.867T>A | |
| 14 | g.30885999A>C | CA389348418 | COCH | c.1359A>C (p.Glu453Asp) c.1164A>C (p.Glu388Asp) c.1221A>C (p.Glu407Asp) n.1466A>C c.828A>C (p.Glu276Asp) c.815A>C n.866T>G | |
| 14 | g.30885999A>G | CA486083931 | COCH | c.1359A>G (p.Glu453=) c.1164A>G (p.Glu388=) c.1221A>G (p.Glu407=) n.1466A>G c.828A>G (p.Glu276=) c.815A>G n.866T>C | gnomAD v4 |
| 14 | g.30885999A>T | CA389348419 | COCH | c.1359A>T (p.Glu453Asp) c.1164A>T (p.Glu388Asp) c.1221A>T (p.Glu407Asp) n.1466A>T c.828A>T (p.Glu276Asp) c.815A>T n.866T>A | |
| 14 | g.30886000T>A | CA389348420 | COCH | c.1360T>A (p.Phe454Ile) c.1165T>A (p.Phe389Ile) c.1222T>A (p.Phe408Ile) n.1467T>A c.829T>A (p.Phe277Ile) c.816T>A n.865A>T | |
| 14 | g.30886000T>C | CA389348421 | COCH | c.1360T>C (p.Phe454Leu) c.1165T>C (p.Phe389Leu) c.1222T>C (p.Phe408Leu) n.1467T>C c.829T>C (p.Phe277Leu) c.816T>C n.865A>G | |
| 14 | g.30886000T>G | CA389348422 | COCH | c.1360T>G (p.Phe454Val) c.1165T>G (p.Phe389Val) c.1222T>G (p.Phe408Val) n.1467T>G c.829T>G (p.Phe277Val) c.816T>G n.865A>C | |
| 14 | g.30886001T>A | CA389348423 | COCH | c.1361T>A (p.Phe454Tyr) c.1166T>A (p.Phe389Tyr) c.1223T>A (p.Phe408Tyr) n.1468T>A c.830T>A (p.Phe277Tyr) c.817T>A n.864A>T | |
| 14 | g.30886001T>C | CA389348424 | COCH | c.1361T>C (p.Phe454Ser) c.1166T>C (p.Phe389Ser) c.1223T>C (p.Phe408Ser) n.1468T>C c.830T>C (p.Phe277Ser) c.817T>C n.864A>G | ClinVar |
| 14 | g.30886001T>G | CA389348425 | COCH | c.1361T>G (p.Phe454Cys) c.1166T>G (p.Phe389Cys) c.1223T>G (p.Phe408Cys) n.1468T>G c.830T>G (p.Phe277Cys) c.817T>G n.864A>C | |
| 14 | g.30886001_30886002insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA | CA2552817041 | COCH | c.1361_1362insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA (p.Phe455ThrfsTer3) c.1166_1167insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA (p.Phe390ThrfsTer3) c.1223_1224insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA (p.Phe409ThrfsTer3) n.1468_1469insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA c.830_831insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA (p.Phe278ThrfsTer3) c.817_818insCACGCGCTAATTGCGCTCCCATACGCTTGCGAGCTGTATGGACATTAACGCCATGGA n.863_864insTCCATGGCGTTAATGTCCATACAGCTCGCAAGCGTATGGGAGCGCAATTAGCGCGTG | |
| 14 | g.30886002T>A | CA389348427 | COCH | c.1362T>A (p.Phe454Leu) c.1167T>A (p.Phe389Leu) c.1224T>A (p.Phe408Leu) n.1469T>A c.831T>A (p.Phe277Leu) c.818T>A n.863A>T | |
| 14 | g.30886002T>C | CA7143280 | COCH | c.1362T>C (p.Phe454=) c.1167T>C (p.Phe389=) c.1224T>C (p.Phe408=) n.1469T>C c.831T>C (p.Phe277=) c.818T>C n.863A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886002T>G | CA389348426 | COCH | c.1362T>G (p.Phe454Leu) c.1167T>G (p.Phe389Leu) c.1224T>G (p.Phe408Leu) n.1469T>G c.831T>G (p.Phe277Leu) c.818T>G n.863A>C | |
| 14 | g.30886002T= | CA2126958406 | COCH | c.1362T= (p.Phe454=) c.1167T= (p.Phe389=) c.1224T= (p.Phe408=) n.1469T= c.831T= (p.Phe277=) c.818T= n.863A= | |
| 14 | g.30886003G>A | CA389348430 | COCH | c.1363G>A (p.Val455Ile) c.1168G>A (p.Val390Ile) c.1225G>A (p.Val409Ile) n.1470G>A c.832G>A (p.Val278Ile) c.819G>A n.862C>T | |
| 14 | g.30886003G>C | CA389348428 | COCH | c.1363G>C (p.Val455Leu) c.1168G>C (p.Val390Leu) c.1225G>C (p.Val409Leu) n.1470G>C c.832G>C (p.Val278Leu) c.819G>C n.862C>G | |
| 14 | g.30886003G= | CA2126958424 | COCH | c.1363G= (p.Val455=) c.1168G= (p.Val390=) c.1225G= (p.Val409=) n.1470G= c.832G= (p.Val278=) c.819G= n.862C= | |
| 14 | g.30886003G>T | CA389348429 | COCH | c.1363G>T (p.Val455Phe) c.1168G>T (p.Val390Phe) c.1225G>T (p.Val409Phe) n.1470G>T c.832G>T (p.Val278Phe) c.819G>T n.862C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886004T>A | CA389348431 | COCH | c.1364T>A (p.Val455Asp) c.1169T>A (p.Val390Asp) c.1226T>A (p.Val409Asp) n.1471T>A c.833T>A (p.Val278Asp) c.820T>A n.861A>T | |
| 14 | g.30886004T>C | CA389348432 | COCH | c.1364T>C (p.Val455Ala) c.1169T>C (p.Val390Ala) c.1226T>C (p.Val409Ala) n.1471T>C c.833T>C (p.Val278Ala) c.820T>C n.861A>G | |
| 14 | g.30886004T>G | CA389348433 | COCH | c.1364T>G (p.Val455Gly) c.1169T>G (p.Val390Gly) c.1226T>G (p.Val409Gly) n.1471T>G c.833T>G (p.Val278Gly) c.820T>G n.861A>C | |
| 14 | g.30886005T>A | CA486083935 | COCH | c.1365T>A (p.Val455=) c.1170T>A (p.Val390=) c.1227T>A (p.Val409=) n.1472T>A c.834T>A (p.Val278=) c.821T>A n.860A>T | |
| 14 | g.30886005T>C | CA486083937 | COCH | c.1365T>C (p.Val455=) c.1170T>C (p.Val390=) c.1227T>C (p.Val409=) n.1472T>C c.834T>C (p.Val278=) c.821T>C n.860A>G | |
| 14 | g.30886005T>G | CA486083938 | COCH | c.1365T>G (p.Val455=) c.1170T>G (p.Val390=) c.1227T>G (p.Val409=) n.1472T>G c.834T>G (p.Val278=) c.821T>G n.860A>C | |
| 14 | g.30886005_30886006insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA | CA2521257731 | COCH | c.1365_1366insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA (p.Ser456ArgfsTer16) c.1170_1171insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA (p.Ser391ArgfsTer16) c.1227_1228insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA (p.Ser410ArgfsTer16) n.1472_1473insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA c.834_835insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA (p.Ser279ArgfsTer16) c.821_822insAGAATCAGGGCGAGCAAAGTAGATATACTCCATAGAACAGATTGCTAACTGAGTATCGTCTGTA n.859_860insTACAGACGATACTCAGTTAGCAATCTGTTCTATGGAGTATATCTACTTTGCTCGCCCTGATTCT | |
| 14 | g.30886006T>A | CA389348436 | COCH | c.1366T>A (p.Ser456Thr) c.1171T>A (p.Ser391Thr) c.1228T>A (p.Ser410Thr) n.1473T>A c.835T>A (p.Ser279Thr) c.822T>A n.859A>T | |
| 14 | g.30886006T>C | CA389348435 | COCH | c.1366T>C (p.Ser456Pro) c.1171T>C (p.Ser391Pro) c.1228T>C (p.Ser410Pro) n.1473T>C c.835T>C (p.Ser279Pro) c.822T>C n.859A>G | |
| 14 | g.30886006T>G | CA389348434 | COCH | c.1366T>G (p.Ser456Ala) c.1171T>G (p.Ser391Ala) c.1228T>G (p.Ser410Ala) n.1473T>G c.835T>G (p.Ser279Ala) c.822T>G n.859A>C | |
| 14 | g.30886007C>A | CA389348437 | COCH | c.1367C>A (p.Ser456Tyr) c.1172C>A (p.Ser391Tyr) c.1229C>A (p.Ser410Tyr) n.1474C>A c.836C>A (p.Ser279Tyr) c.823C>A n.858G>T | |
| 14 | g.30886007C>G | CA389348438 | COCH | c.1367C>G (p.Ser456Cys) c.1172C>G (p.Ser391Cys) c.1229C>G (p.Ser410Cys) n.1474C>G c.836C>G (p.Ser279Cys) c.823C>G n.858G>C | gnomAD v4 |
| 14 | g.30886007C>T | CA389348439 | COCH | c.1367C>T (p.Ser456Phe) c.1172C>T (p.Ser391Phe) c.1229C>T (p.Ser410Phe) n.1474C>T c.836C>T (p.Ser279Phe) c.823C>T n.858G>A | |
| 14 | g.30886008C>A | CA486083941 | COCH | c.1368C>A (p.Ser456=) c.1173C>A (p.Ser391=) c.1230C>A (p.Ser410=) n.1475C>A c.837C>A (p.Ser279=) c.824C>A n.857G>T | gnomAD v4 |
| 14 | g.30886008C>G | CA486083939 | COCH | c.1368C>G (p.Ser456=) c.1173C>G (p.Ser391=) c.1230C>G (p.Ser410=) n.1475C>G c.837C>G (p.Ser279=) c.824C>G n.857G>C | |
| 14 | g.30886008C>T | CA486083940 | COCH | c.1368C>T (p.Ser456=) c.1173C>T (p.Ser391=) c.1230C>T (p.Ser410=) n.1475C>T c.837C>T (p.Ser279=) c.824C>T n.857G>A | |
| 14 | g.30886009A>C | CA389348440 | COCH | c.1369A>C (p.Asn457His) c.1174A>C (p.Asn392His) c.1231A>C (p.Asn411His) n.1476A>C c.838A>C (p.Asn280His) c.825A>C n.856T>G | |
| 14 | g.30886009A>G | CA389348441 | COCH | c.1369A>G (p.Asn457Asp) c.1174A>G (p.Asn392Asp) c.1231A>G (p.Asn411Asp) n.1476A>G c.838A>G (p.Asn280Asp) c.825A>G n.856T>C | |
| 14 | g.30886009A>T | CA389348442 | COCH | c.1369A>T (p.Asn457Tyr) c.1174A>T (p.Asn392Tyr) c.1231A>T (p.Asn411Tyr) n.1476A>T c.838A>T (p.Asn280Tyr) c.825A>T n.856T>A | |
| 14 | g.30886010A>C | CA389348443 | COCH | c.1370A>C (p.Asn457Thr) c.1175A>C (p.Asn392Thr) c.1232A>C (p.Asn411Thr) n.1477A>C c.839A>C (p.Asn280Thr) c.826A>C n.855T>G | |
| 14 | g.30886010A>G | CA389348445 | COCH | c.1370A>G (p.Asn457Ser) c.1175A>G (p.Asn392Ser) c.1232A>G (p.Asn411Ser) n.1477A>G c.839A>G (p.Asn280Ser) c.826A>G n.855T>C | |
| 14 | g.30886010A>T | CA389348444 | COCH | c.1370A>T (p.Asn457Ile) c.1175A>T (p.Asn392Ile) c.1232A>T (p.Asn411Ile) n.1477A>T c.839A>T (p.Asn280Ile) c.826A>T n.855T>A | |
| 14 | g.30886010_30886011insG | CA2624448711 | COCH | c.1370_1371insG (p.Asn457LysfsTer7) c.1175_1176insG (p.Asn392LysfsTer7) c.1232_1233insG (p.Asn411LysfsTer7) n.1477_1478insG c.839_840insG (p.Asn280LysfsTer7) c.826_827insG n.854_855insC | gnomAD v4 |
| 14 | g.30886011C>A | CA389348446 | COCH | c.1371C>A (p.Asn457Lys) c.1176C>A (p.Asn392Lys) c.1233C>A (p.Asn411Lys) n.1478C>A c.840C>A (p.Asn280Lys) c.827C>A n.854G>T | |
| 14 | g.30886011C>G | CA389348447 | COCH | c.1371C>G (p.Asn457Lys) c.1176C>G (p.Asn392Lys) c.1233C>G (p.Asn411Lys) n.1478C>G c.840C>G (p.Asn280Lys) c.827C>G n.854G>C | |
| 14 | g.30886011C>T | CA486083943 | COCH | c.1371C>T (p.Asn457=) c.1176C>T (p.Asn392=) c.1233C>T (p.Asn411=) n.1478C>T c.840C>T (p.Asn280=) c.827C>T n.854G>A | |
| 14 | g.30886012A= | CA2126958429 | COCH | c.1372A= (p.Ile458=) c.1177A= (p.Ile393=) c.1234A= (p.Ile412=) n.1479A= c.841A= (p.Ile281=) c.828A= n.853T= | |
| 14 | g.30886012A>C | CA389348448 | COCH | c.1372A>C (p.Ile458Leu) c.1177A>C (p.Ile393Leu) c.1234A>C (p.Ile412Leu) n.1479A>C c.841A>C (p.Ile281Leu) c.828A>C n.853T>G | |
| 14 | g.30886012A>G | CA258541073 | COCH | c.1372A>G (p.Ile458Val) c.1177A>G (p.Ile393Val) c.1234A>G (p.Ile412Val) n.1479A>G c.841A>G (p.Ile281Val) c.828A>G n.853T>C | dbSNP gnomAD v4 |
| 14 | g.30886012A>T | CA389348449 | COCH | c.1372A>T (p.Ile458Leu) c.1177A>T (p.Ile393Leu) c.1234A>T (p.Ile412Leu) n.1479A>T c.841A>T (p.Ile281Leu) c.828A>T n.853T>A | |
| 14 | g.30886013T>A | CA389348450 | COCH | c.1373T>A (p.Ile458Lys) c.1178T>A (p.Ile393Lys) c.1235T>A (p.Ile412Lys) n.1480T>A c.842T>A (p.Ile281Lys) c.829T>A n.852A>T | |
| 14 | g.30886013T>C | CA389348451 | COCH | c.1373T>C (p.Ile458Thr) c.1178T>C (p.Ile393Thr) c.1235T>C (p.Ile412Thr) n.1480T>C c.842T>C (p.Ile281Thr) c.829T>C n.852A>G | gnomAD v4 |
| 14 | g.30886013T>G | CA389348452 | COCH | c.1373T>G (p.Ile458Arg) c.1178T>G (p.Ile393Arg) c.1235T>G (p.Ile412Arg) n.1480T>G c.842T>G (p.Ile281Arg) c.829T>G n.852A>C | |
| 14 | g.30886014del | CA2624448714 | COCH | c.1374del (p.Ile458MetfsTer14) c.1179del (p.Ile393MetfsTer14) c.1236del (p.Ile412MetfsTer14) n.1481del c.843del (p.Ile281MetfsTer14) c.830del n.851del | gnomAD v4 |
| 14 | g.30886014A>C | CA486083944 | COCH | c.1374A>C (p.Ile458=) c.1179A>C (p.Ile393=) c.1236A>C (p.Ile412=) n.1481A>C c.843A>C (p.Ile281=) c.830A>C n.851T>G | |
| 14 | g.30886014A>G | CA389348453 | COCH | c.1374A>G (p.Ile458Met) c.1179A>G (p.Ile393Met) c.1236A>G (p.Ile412Met) n.1481A>G c.843A>G (p.Ile281Met) c.830A>G n.851T>C | |
| 14 | g.30886014A>T | CA486083945 | COCH | c.1374A>T (p.Ile458=) c.1179A>T (p.Ile393=) c.1236A>T (p.Ile412=) n.1481A>T c.843A>T (p.Ile281=) c.830A>T n.851T>A | |
| 14 | g.30886015G>A | CA389348454 | COCH | c.1375G>A (p.Ala459Thr) c.1180G>A (p.Ala394Thr) c.1237G>A (p.Ala413Thr) n.1482G>A c.844G>A (p.Ala282Thr) c.831G>A n.850C>T | |
| 14 | g.30886015G>C | CA389348455 | COCH | c.1375G>C (p.Ala459Pro) c.1180G>C (p.Ala394Pro) c.1237G>C (p.Ala413Pro) n.1482G>C c.844G>C (p.Ala282Pro) c.831G>C n.850C>G | |
| 14 | g.30886015G= | CA2126958433 | COCH | c.1375G= (p.Ala459=) c.1180G= (p.Ala394=) c.1237G= (p.Ala413=) n.1482G= c.844G= (p.Ala282=) c.831G= n.850C= | |
| 14 | g.30886015G>T | CA389348456 | COCH | c.1375G>T (p.Ala459Ser) c.1180G>T (p.Ala394Ser) c.1237G>T (p.Ala413Ser) n.1482G>T c.844G>T (p.Ala282Ser) c.831G>T n.850C>A | |
| 14 | g.30886015_30886016insTTT | CA2624448716 | COCH | c.1375_1376insTTT (p.Ala459delinsValSer) c.1180_1181insTTT (p.Ala394delinsValSer) c.1237_1238insTTT (p.Ala413delinsValSer) n.1482_1483insTTT c.844_845insTTT (p.Ala282delinsValSer) c.831_832insTTT n.849_850insAAA | gnomAD v4 |
| 14 | g.30886016C>A | CA389348459 | COCH | c.1376C>A (p.Ala459Asp) c.1181C>A (p.Ala394Asp) c.1238C>A (p.Ala413Asp) n.1483C>A c.845C>A (p.Ala282Asp) c.832C>A n.849G>T | |
| 14 | g.30886016C>G | CA389348458 | COCH | c.1376C>G (p.Ala459Gly) c.1181C>G (p.Ala394Gly) c.1238C>G (p.Ala413Gly) n.1483C>G c.845C>G (p.Ala282Gly) c.832C>G n.849G>C | |
| 14 | g.30886016C>T | CA389348457 | COCH | c.1376C>T (p.Ala459Val) c.1181C>T (p.Ala394Val) c.1238C>T (p.Ala413Val) n.1483C>T c.845C>T (p.Ala282Val) c.832C>T n.849G>A | |
| 14 | g.30886017dup | CA258541077 | COCH | c.1377dup (p.Lys460GlnfsTer4) c.1182dup (p.Lys395GlnfsTer4) c.1239dup (p.Lys414GlnfsTer4) n.1484dup c.846dup (p.Lys283GlnfsTer4) c.833dup n.849dup | dbSNP |
| 14 | g.30886017C>A | CA486083947 | COCH | c.1377C>A (p.Ala459=) c.1182C>A (p.Ala394=) c.1239C>A (p.Ala413=) n.1484C>A c.846C>A (p.Ala282=) c.833C>A n.848G>T | |
| 14 | g.30886017C>G | CA486083948 | COCH | c.1377C>G (p.Ala459=) c.1182C>G (p.Ala394=) c.1239C>G (p.Ala413=) n.1484C>G c.846C>G (p.Ala282=) c.833C>G n.848G>C | |
| 14 | g.30886017C>T | CA486083949 | COCH | c.1377C>T (p.Ala459=) c.1182C>T (p.Ala394=) c.1239C>T (p.Ala413=) n.1484C>T c.846C>T (p.Ala282=) c.833C>T n.848G>A | |
| 14 | g.30886018A>C | CA389348460 | COCH | c.1378A>C (p.Lys460Gln) c.1183A>C (p.Lys395Gln) c.1240A>C (p.Lys414Gln) n.1485A>C c.847A>C (p.Lys283Gln) c.834A>C n.847T>G | |
| 14 | g.30886018A>G | CA389348461 | COCH | c.1378A>G (p.Lys460Glu) c.1183A>G (p.Lys395Glu) c.1240A>G (p.Lys414Glu) n.1485A>G c.847A>G (p.Lys283Glu) c.834A>G n.847T>C | gnomAD v4 |
| 14 | g.30886018A>T | CA389348462 | COCH | c.1378A>T (p.Lys460Ter) c.1183A>T (p.Lys395Ter) c.1240A>T (p.Lys414Ter) n.1485A>T c.847A>T (p.Lys283Ter) c.834A>T n.847T>A | |
| 14 | g.30886019A= | CA2126958440 | COCH | c.1379A= (p.Lys460=) c.1184A= (p.Lys395=) c.1241A= (p.Lys414=) n.1486A= c.848A= (p.Lys283=) c.835A= n.846T= | |
| 14 | g.30886019A>C | CA389348463 | COCH | c.1379A>C (p.Lys460Thr) c.1184A>C (p.Lys395Thr) c.1241A>C (p.Lys414Thr) n.1486A>C c.848A>C (p.Lys283Thr) c.835A>C n.846T>G | gnomAD v4 |
| 14 | g.30886019A>G | CA258541094 | COCH | c.1379A>G (p.Lys460Arg) c.1184A>G (p.Lys395Arg) c.1241A>G (p.Lys414Arg) n.1486A>G c.848A>G (p.Lys283Arg) c.835A>G n.846T>C | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886019A>T | CA389348464 | COCH | c.1379A>T (p.Lys460Met) c.1184A>T (p.Lys395Met) c.1241A>T (p.Lys414Met) n.1486A>T c.848A>T (p.Lys283Met) c.835A>T n.846T>A | |
| 14 | g.30886020G>A | CA486083953 | COCH | c.1380G>A (p.Lys460=) c.1185G>A (p.Lys395=) c.1242G>A (p.Lys414=) n.1487G>A c.849G>A (p.Lys283=) c.836G>A n.845C>T | gnomAD v4 |
| 14 | g.30886020G>C | CA389348465 | COCH | c.1380G>C (p.Lys460Asn) c.1185G>C (p.Lys395Asn) c.1242G>C (p.Lys414Asn) n.1487G>C c.849G>C (p.Lys283Asn) c.836G>C n.845C>G | gnomAD v4 |
| 14 | g.30886020G>T | CA389348466 | COCH | c.1380G>T (p.Lys460Asn) c.1185G>T (p.Lys395Asn) c.1242G>T (p.Lys414Asn) n.1487G>T c.849G>T (p.Lys283Asn) c.836G>T n.845C>A | |
| 14 | g.30886021A>C | CA389348467 | COCH | c.1381A>C (p.Thr461Pro) c.1186A>C (p.Thr396Pro) c.1243A>C (p.Thr415Pro) n.1488A>C c.850A>C (p.Thr284Pro) c.837A>C n.844T>G | |
| 14 | g.30886021A>G | CA389348469 | COCH | c.1381A>G (p.Thr461Ala) c.1186A>G (p.Thr396Ala) c.1243A>G (p.Thr415Ala) n.1488A>G c.850A>G (p.Thr284Ala) c.837A>G n.844T>C | |
| 14 | g.30886021A>T | CA389348468 | COCH | c.1381A>T (p.Thr461Ser) c.1186A>T (p.Thr396Ser) c.1243A>T (p.Thr415Ser) n.1488A>T c.850A>T (p.Thr284Ser) c.837A>T n.844T>A | |
| 14 | g.30886022C>A | CA389348470 | COCH | c.1382C>A (p.Thr461Asn) c.1187C>A (p.Thr396Asn) c.1244C>A (p.Thr415Asn) n.1489C>A c.851C>A (p.Thr284Asn) c.838C>A n.843G>T | gnomAD v4 |
| 14 | g.30886022C>G | CA389348471 | COCH | c.1382C>G (p.Thr461Ser) c.1187C>G (p.Thr396Ser) c.1244C>G (p.Thr415Ser) n.1489C>G c.851C>G (p.Thr284Ser) c.838C>G n.843G>C | |
| 14 | g.30886022C>T | CA389348472 | COCH | c.1382C>T (p.Thr461Ile) c.1187C>T (p.Thr396Ile) c.1244C>T (p.Thr415Ile) n.1489C>T c.851C>T (p.Thr284Ile) c.838C>T n.843G>A | COSMIC |
| 14 | g.30886022_30886024delinsCTT | CA2126958445 | COCH | c.1382_1384delinsCTT (p.Thr461=) c.1187_1189delinsCTT (p.Thr396=) c.1244_1246delinsCTT (p.Thr415=) n.1489_1491delinsCTT c.851_853delinsCTT (p.Thr284=) c.838_840delinsCTT n.841_843delinsAAG | |
| 14 | g.30886023T>A | CA486083954 | COCH | c.1383T>A (p.Thr461=) c.1188T>A (p.Thr396=) c.1245T>A (p.Thr415=) n.1490T>A c.852T>A (p.Thr284=) c.839T>A n.842A>T | |
| 14 | g.30886023T>C | CA7143281 | COCH | c.1383T>C (p.Thr461=) c.1188T>C (p.Thr396=) c.1245T>C (p.Thr415=) n.1490T>C c.852T>C (p.Thr284=) c.839T>C n.842A>G | dbSNP ExAC gnomAD v2 |
| 14 | g.30886023T>G | CA486083955 | COCH | c.1383T>G (p.Thr461=) c.1188T>G (p.Thr396=) c.1245T>G (p.Thr415=) n.1490T>G c.852T>G (p.Thr284=) c.839T>G n.842A>C | dbSNP gnomAD v2 |
| 14 | g.30886023T= | CA2126958452 | COCH | c.1383T= (p.Thr461=) c.1188T= (p.Thr396=) c.1245T= (p.Thr415=) n.1490T= c.852T= (p.Thr284=) c.839T= n.842A= | |
| 14 | g.30886025_30886026del | CA2126958451 | COCH | c.1385_1386del (p.Phe462Ter) c.1190_1191del (p.Phe397Ter) c.1247_1248del (p.Phe416Ter) n.1492_1493del c.854_855del (p.Phe285Ter) c.841_842del n.841_842del | dbSNP |
| 14 | g.30886024T>A | CA389348475 | COCH | c.1384T>A (p.Phe462Ile) c.1189T>A (p.Phe397Ile) c.1246T>A (p.Phe416Ile) n.1491T>A c.853T>A (p.Phe285Ile) c.840T>A n.841A>T | |
| 14 | g.30886024T>C | CA389348473 | COCH | c.1384T>C (p.Phe462Leu) c.1189T>C (p.Phe397Leu) c.1246T>C (p.Phe416Leu) n.1491T>C c.853T>C (p.Phe285Leu) c.840T>C n.841A>G | |
| 14 | g.30886024T>G | CA389348474 | COCH | c.1384T>G (p.Phe462Val) c.1189T>G (p.Phe397Val) c.1246T>G (p.Phe416Val) n.1491T>G c.853T>G (p.Phe285Val) c.840T>G n.841A>C | |
| 14 | g.30886025T>A | CA389348476 | COCH | c.1385T>A (p.Phe462Tyr) c.1190T>A (p.Phe397Tyr) c.1247T>A (p.Phe416Tyr) n.1492T>A c.854T>A (p.Phe285Tyr) c.841T>A n.840A>T | |
| 14 | g.30886025T>C | CA389348477 | COCH | c.1385T>C (p.Phe462Ser) c.1190T>C (p.Phe397Ser) c.1247T>C (p.Phe416Ser) n.1492T>C c.854T>C (p.Phe285Ser) c.841T>C n.840A>G | gnomAD v4 |
| 14 | g.30886025T>G | CA389348478 | COCH | c.1385T>G (p.Phe462Cys) c.1190T>G (p.Phe397Cys) c.1247T>G (p.Phe416Cys) n.1492T>G c.854T>G (p.Phe285Cys) c.841T>G n.840A>C | |
| 14 | g.30886026T>A | CA389348479 | COCH | c.1386T>A (p.Phe462Leu) c.1191T>A (p.Phe397Leu) c.1248T>A (p.Phe416Leu) n.1493T>A c.855T>A (p.Phe285Leu) c.842T>A n.839A>T | |
| 14 | g.30886026T>C | CA486083957 | COCH | c.1386T>C (p.Phe462=) c.1191T>C (p.Phe397=) c.1248T>C (p.Phe416=) n.1493T>C c.855T>C (p.Phe285=) c.842T>C n.839A>G | |
| 14 | g.30886026T>G | CA389348480 | COCH | c.1386T>G (p.Phe462Leu) c.1191T>G (p.Phe397Leu) c.1248T>G (p.Phe416Leu) n.1493T>G c.855T>G (p.Phe285Leu) c.842T>G n.839A>C | |
| 14 | g.30886027G>A | CA389348481 | COCH | c.1387G>A (p.Glu463Lys) c.1192G>A (p.Glu398Lys) c.1249G>A (p.Glu417Lys) n.1494G>A c.856G>A (p.Glu286Lys) c.843G>A n.838C>T | COSMIC |
| 14 | g.30886027G>C | CA389348482 | COCH | c.1387G>C (p.Glu463Gln) c.1192G>C (p.Glu398Gln) c.1249G>C (p.Glu417Gln) n.1494G>C c.856G>C (p.Glu286Gln) c.843G>C n.838C>G | |
| 14 | g.30886027G>T | CA389348483 | COCH | c.1387G>T (p.Glu463Ter) c.1192G>T (p.Glu398Ter) c.1249G>T (p.Glu417Ter) n.1494G>T c.856G>T (p.Glu286Ter) c.843G>T n.838C>A | |
| 14 | g.30886028A= | CA2126958459 | COCH | c.1388A= (p.Glu463=) c.1193A= (p.Glu398=) c.1250A= (p.Glu417=) n.1495A= c.857A= (p.Glu286=) c.844A= n.837T= | |
| 14 | g.30886028A>C | CA389348484 | COCH | c.1388A>C (p.Glu463Ala) c.1193A>C (p.Glu398Ala) c.1250A>C (p.Glu417Ala) n.1495A>C c.857A>C (p.Glu286Ala) c.844A>C n.837T>G | |
| 14 | g.30886028A>G | CA389348485 | COCH | c.1388A>G (p.Glu463Gly) c.1193A>G (p.Glu398Gly) c.1250A>G (p.Glu417Gly) n.1495A>G c.857A>G (p.Glu286Gly) c.844A>G n.837T>C | |
| 14 | g.30886028A>T | CA389348486 | COCH | c.1388A>T (p.Glu463Val) c.1193A>T (p.Glu398Val) c.1250A>T (p.Glu417Val) n.1495A>T c.857A>T (p.Glu286Val) c.844A>T n.837T>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886029A>C | CA389348487 | COCH | c.1389A>C (p.Glu463Asp) c.1194A>C (p.Glu398Asp) c.1251A>C (p.Glu417Asp) n.1496A>C c.858A>C (p.Glu286Asp) c.845A>C n.836T>G | |
| 14 | g.30886029A>G | CA486083959 | COCH | c.1389A>G (p.Glu463=) c.1194A>G (p.Glu398=) c.1251A>G (p.Glu417=) n.1496A>G c.858A>G (p.Glu286=) c.845A>G n.836T>C | |
| 14 | g.30886029A>T | CA389348488 | COCH | c.1389A>T (p.Glu463Asp) c.1194A>T (p.Glu398Asp) c.1251A>T (p.Glu417Asp) n.1496A>T c.858A>T (p.Glu286Asp) c.845A>T n.836T>A | |
| 14 | g.30886030A>C | CA389348489 | COCH | c.1390A>C (p.Ile464Leu) c.1195A>C (p.Ile399Leu) c.1252A>C (p.Ile418Leu) n.1497A>C c.859A>C (p.Ile287Leu) c.846A>C n.835T>G | |
| 14 | g.30886030A>G | CA389348491 | COCH | c.1390A>G (p.Ile464Val) c.1195A>G (p.Ile399Val) c.1252A>G (p.Ile418Val) n.1497A>G c.859A>G (p.Ile287Val) c.846A>G n.835T>C | |
| 14 | g.30886030A>T | CA389348490 | COCH | c.1390A>T (p.Ile464Phe) c.1195A>T (p.Ile399Phe) c.1252A>T (p.Ile418Phe) n.1497A>T c.859A>T (p.Ile287Phe) c.846A>T n.835T>A | |
| 14 | g.30886031_30886048del | CA2582341663 | COCH | c.1391_1408del (p.Ile464_Ala469del) c.1196_1213del (p.Ile399_Ala404del) c.1253_1270del (p.Ile418_Ala423del) n.1498_1515del c.860_877del (p.Ile287_Ala292del) c.847_864del n.818_835del | ClinVar |
| 14 | g.30886031T>A | CA389348492 | COCH | c.1391T>A (p.Ile464Asn) c.1196T>A (p.Ile399Asn) c.1253T>A (p.Ile418Asn) n.1498T>A c.860T>A (p.Ile287Asn) c.847T>A n.834A>T | gnomAD v4 |
| 14 | g.30886031T>C | CA389348493 | COCH | c.1391T>C (p.Ile464Thr) c.1196T>C (p.Ile399Thr) c.1253T>C (p.Ile418Thr) n.1498T>C c.860T>C (p.Ile287Thr) c.847T>C n.834A>G | |
| 14 | g.30886031T>G | CA389348494 | COCH | c.1391T>G (p.Ile464Ser) c.1196T>G (p.Ile399Ser) c.1253T>G (p.Ile418Ser) n.1498T>G c.860T>G (p.Ile287Ser) c.847T>G n.834A>C | |
| 14 | g.30886032C>A | CA7143282 | COCH | c.1392C>A (p.Ile464=) c.1197C>A (p.Ile399=) c.1254C>A (p.Ile418=) n.1499C>A c.861C>A (p.Ile287=) c.848C>A n.833G>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.30886032C= | CA2126958463 | COCH | c.1392C= (p.Ile464=) c.1197C= (p.Ile399=) c.1254C= (p.Ile418=) n.1499C= c.861C= (p.Ile287=) c.848C= n.833G= | |
| 14 | g.30886032C>G | CA389348495 | COCH | c.1392C>G (p.Ile464Met) c.1197C>G (p.Ile399Met) c.1254C>G (p.Ile418Met) n.1499C>G c.861C>G (p.Ile287Met) c.848C>G n.833G>C | gnomAD v4 |
| 14 | g.30886032C>T | CA486083960 | COCH | c.1392C>T (p.Ile464=) c.1197C>T (p.Ile399=) c.1254C>T (p.Ile418=) n.1499C>T c.861C>T (p.Ile287=) c.848C>T n.833G>A | gnomAD v4 |
| 14 | g.30886033T>A | CA389348496 | COCH | c.1393T>A (p.Ser465Thr) c.1198T>A (p.Ser400Thr) c.1255T>A (p.Ser419Thr) n.1500T>A c.862T>A (p.Ser288Thr) c.849T>A n.832A>T | |
| 14 | g.30886033T>C | CA389348497 | COCH | c.1393T>C (p.Ser465Pro) c.1198T>C (p.Ser400Pro) c.1255T>C (p.Ser419Pro) n.1500T>C c.862T>C (p.Ser288Pro) c.849T>C n.832A>G | |
| 14 | g.30886033T>G | CA389348498 | COCH | c.1393T>G (p.Ser465Ala) c.1198T>G (p.Ser400Ala) c.1255T>G (p.Ser419Ala) n.1500T>G c.862T>G (p.Ser288Ala) c.849T>G n.832A>C | |
| 14 | g.30886034C>A | CA389348499 | COCH | c.1394C>A (p.Ser465Ter) c.1199C>A (p.Ser400Ter) c.1256C>A (p.Ser419Ter) n.1501C>A c.863C>A (p.Ser288Ter) c.850C>A n.831G>T | gnomAD v4 |
| 14 | g.30886034C= | CA2126958471 | COCH | c.1394C= (p.Ser465=) c.1199C= (p.Ser400=) c.1256C= (p.Ser419=) n.1501C= c.863C= (p.Ser288=) c.850C= n.831G= | |
| 14 | g.30886034C>G | CA389348500 | COCH | c.1394C>G (p.Ser465Trp) c.1199C>G (p.Ser400Trp) c.1256C>G (p.Ser419Trp) n.1501C>G c.863C>G (p.Ser288Trp) c.850C>G n.831G>C | |
| 14 | g.30886034C>T | CA7143283 | COCH | c.1394C>T (p.Ser465Leu) c.1199C>T (p.Ser400Leu) c.1256C>T (p.Ser419Leu) n.1501C>T c.863C>T (p.Ser288Leu) c.850C>T n.831G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.30886035G>A | CA7143284 | COCH | c.1395G>A (p.Ser465=) c.1200G>A (p.Ser400=) c.1257G>A (p.Ser419=) n.1502G>A c.864G>A (p.Ser288=) c.851G>A n.830C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 14 | g.30886035G>C | CA486083962 | COCH | c.1395G>C (p.Ser465=) c.1200G>C (p.Ser400=) c.1257G>C (p.Ser419=) n.1502G>C c.864G>C (p.Ser288=) c.851G>C n.830C>G | |
| 14 | g.30886035G= | CA2126958475 | COCH | c.1395G= (p.Ser465=) c.1200G= (p.Ser400=) c.1257G= (p.Ser419=) n.1502G= c.864G= (p.Ser288=) c.851G= n.830C= | |
| 14 | g.30886035G>T | CA486083963 | COCH | c.1395G>T (p.Ser465=) c.1200G>T (p.Ser400=) c.1257G>T (p.Ser419=) n.1502G>T c.864G>T (p.Ser288=) c.851G>T n.830C>A | COSMIC COSMIC |
| 14 | g.30886036G>A | CA7143285 | COCH | c.1396G>A (p.Asp466Asn) c.1201G>A (p.Asp401Asn) c.1258G>A (p.Asp420Asn) n.1503G>A c.865G>A (p.Asp289Asn) c.852G>A n.829C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886036G>C | CA389348502 | COCH | c.1396G>C (p.Asp466His) c.1201G>C (p.Asp401His) c.1258G>C (p.Asp420His) n.1503G>C c.865G>C (p.Asp289His) c.852G>C n.829C>G | |
| 14 | g.30886036G= | CA2126958481 | COCH | c.1396G= (p.Asp466=) c.1201G= (p.Asp401=) c.1258G= (p.Asp420=) n.1503G= c.865G= (p.Asp289=) c.852G= n.829C= | |
| 14 | g.30886036G>T | CA389348501 | COCH | c.1396G>T (p.Asp466Tyr) c.1201G>T (p.Asp401Tyr) c.1258G>T (p.Asp420Tyr) n.1503G>T c.865G>T (p.Asp289Tyr) c.852G>T n.829C>A | |
| 14 | g.30886037A= | CA2126958484 | COCH | c.1397A= (p.Asp466=) c.1202A= (p.Asp401=) c.1259A= (p.Asp420=) n.1504A= c.866A= (p.Asp289=) c.853A= n.828T= | |
| 14 | g.30886037A>C | CA389348503 | COCH | c.1397A>C (p.Asp466Ala) c.1202A>C (p.Asp401Ala) c.1259A>C (p.Asp420Ala) n.1504A>C c.866A>C (p.Asp289Ala) c.853A>C n.828T>G | |
| 14 | g.30886037A>G | CA389348504 | COCH | c.1397A>G (p.Asp466Gly) c.1202A>G (p.Asp401Gly) c.1259A>G (p.Asp420Gly) n.1504A>G c.866A>G (p.Asp289Gly) c.853A>G n.828T>C | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886037A>T | CA389348505 | COCH | c.1397A>T (p.Asp466Val) c.1202A>T (p.Asp401Val) c.1259A>T (p.Asp420Val) n.1504A>T c.866A>T (p.Asp289Val) c.853A>T n.828T>A | |
| 14 | g.30886038C>A | CA389348506 | COCH | c.1398C>A (p.Asp466Glu) c.1203C>A (p.Asp401Glu) c.1260C>A (p.Asp420Glu) n.1505C>A c.867C>A (p.Asp289Glu) c.854C>A n.827G>T | |
| 14 | g.30886038C= | CA2126958488 | COCH | c.1398C= (p.Asp466=) c.1203C= (p.Asp401=) c.1260C= (p.Asp420=) n.1505C= c.867C= (p.Asp289=) c.854C= n.827G= | |
| 14 | g.30886038C>G | CA389348507 | COCH | c.1398C>G (p.Asp466Glu) c.1203C>G (p.Asp401Glu) c.1260C>G (p.Asp420Glu) n.1505C>G c.867C>G (p.Asp289Glu) c.854C>G n.827G>C | |
| 14 | g.30886038C>T | CA486083965 | COCH | c.1398C>T (p.Asp466=) c.1203C>T (p.Asp401=) c.1260C>T (p.Asp420=) n.1505C>T c.867C>T (p.Asp289=) c.854C>T n.827G>A | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886039A= | CA2126958507 | COCH | c.1399A= (p.Ile467=) c.1204A= (p.Ile402=) c.1261A= (p.Ile421=) n.1506A= c.868A= (p.Ile290=) c.855A= n.826T= | |
| 14 | g.30886039A>C | CA389348508 | COCH | c.1399A>C (p.Ile467Leu) c.1204A>C (p.Ile402Leu) c.1261A>C (p.Ile421Leu) n.1506A>C c.868A>C (p.Ile290Leu) c.855A>C n.826T>G | |
| 14 | g.30886039A>G | CA7143286 | COCH | c.1399A>G (p.Ile467Val) c.1204A>G (p.Ile402Val) c.1261A>G (p.Ile421Val) n.1506A>G c.868A>G (p.Ile290Val) c.855A>G n.826T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886039A>T | CA389348509 | COCH | c.1399A>T (p.Ile467Phe) c.1204A>T (p.Ile402Phe) c.1261A>T (p.Ile421Phe) n.1506A>T c.868A>T (p.Ile290Phe) c.855A>T n.826T>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886040T>A | CA389348510 | COCH | c.1400T>A (p.Ile467Asn) c.1205T>A (p.Ile402Asn) c.1262T>A (p.Ile421Asn) n.1507T>A c.869T>A (p.Ile290Asn) c.856T>A n.825A>T | |
| 14 | g.30886040T>C | CA7143287 | COCH | c.1400T>C (p.Ile467Thr) c.1205T>C (p.Ile402Thr) c.1262T>C (p.Ile421Thr) n.1507T>C c.869T>C (p.Ile290Thr) c.856T>C n.825A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.30886040T>G | CA389348511 | COCH | c.1400T>G (p.Ile467Ser) c.1205T>G (p.Ile402Ser) c.1262T>G (p.Ile421Ser) n.1507T>G c.869T>G (p.Ile290Ser) c.856T>G n.825A>C | |
| 14 | g.30886040T= | CA2126958513 | COCH | c.1400T= (p.Ile467=) c.1205T= (p.Ile402=) c.1262T= (p.Ile421=) n.1507T= c.869T= (p.Ile290=) c.856T= n.825A= | |
| 14 | g.30886041T>A | CA486083967 | COCH | c.1401T>A (p.Ile467=) c.1206T>A (p.Ile402=) c.1263T>A (p.Ile421=) n.1508T>A c.870T>A (p.Ile290=) c.857T>A n.824A>T | |
| 14 | g.30886041T>C | CA486083968 | COCH | c.1401T>C (p.Ile467=) c.1206T>C (p.Ile402=) c.1263T>C (p.Ile421=) n.1508T>C c.870T>C (p.Ile290=) c.857T>C n.824A>G | dbSNP |
| 14 | g.30886041T>G | CA389348512 | COCH | c.1401T>G (p.Ile467Met) c.1206T>G (p.Ile402Met) c.1263T>G (p.Ile421Met) n.1508T>G c.870T>G (p.Ile290Met) c.857T>G n.824A>C | |
| 14 | g.30886041T= | CA2126958515 | COCH | c.1401T= (p.Ile467=) c.1206T= (p.Ile402=) c.1263T= (p.Ile421=) n.1508T= c.870T= (p.Ile290=) c.857T= n.824A= | |
| 14 | g.30886042G>A | CA389348513 | COCH | c.1402G>A (p.Gly468Ser) c.1207G>A (p.Gly403Ser) c.1264G>A (p.Gly422Ser) n.1509G>A c.871G>A (p.Gly291Ser) c.858G>A n.823C>T | |
| 14 | g.30886042G>C | CA389348515 | COCH | c.1402G>C (p.Gly468Arg) c.1207G>C (p.Gly403Arg) c.1264G>C (p.Gly422Arg) n.1509G>C c.871G>C (p.Gly291Arg) c.858G>C n.823C>G | |
| 14 | g.30886042G>T | CA389348514 | COCH | c.1402G>T (p.Gly468Cys) c.1207G>T (p.Gly403Cys) c.1264G>T (p.Gly422Cys) n.1509G>T c.871G>T (p.Gly291Cys) c.858G>T n.823C>A | |
| 14 | g.30886043G>A | CA389348516 | COCH | c.1403G>A (p.Gly468Asp) c.1208G>A (p.Gly403Asp) c.1265G>A (p.Gly422Asp) n.1510G>A c.872G>A (p.Gly291Asp) c.859G>A n.822C>T | |
| 14 | g.30886043G>C | CA389348518 | COCH | c.1403G>C (p.Gly468Ala) c.1208G>C (p.Gly403Ala) c.1265G>C (p.Gly422Ala) n.1510G>C c.872G>C (p.Gly291Ala) c.859G>C n.822C>G | |
| 14 | g.30886043G>T | CA389348517 | COCH | c.1403G>T (p.Gly468Val) c.1208G>T (p.Gly403Val) c.1265G>T (p.Gly422Val) n.1510G>T c.872G>T (p.Gly291Val) c.859G>T n.822C>A | |
| 14 | g.30886044T>A | CA486083774 | COCH | c.1404T>A (p.Gly468=) c.1209T>A (p.Gly403=) c.1266T>A (p.Gly422=) n.1511T>A c.873T>A (p.Gly291=) c.860T>A n.821A>T | |
| 14 | g.30886044T>C | CA486083775 | COCH | c.1404T>C (p.Gly468=) c.1209T>C (p.Gly403=) c.1266T>C (p.Gly422=) n.1511T>C c.873T>C (p.Gly291=) c.860T>C n.821A>G | |
| 14 | g.30886044T>G | CA486083776 | COCH | c.1404T>G (p.Gly468=) c.1209T>G (p.Gly403=) c.1266T>G (p.Gly422=) n.1511T>G c.873T>G (p.Gly291=) c.860T>G n.821A>C | |
| 14 | g.30886045G>A | CA389348519 | COCH | c.1405G>A (p.Ala469Thr) c.1210G>A (p.Ala404Thr) c.1267G>A (p.Ala423Thr) n.1512G>A c.874G>A (p.Ala292Thr) c.861G>A n.820C>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886045G>C | CA389348520 | COCH | c.1405G>C (p.Ala469Pro) c.1210G>C (p.Ala404Pro) c.1267G>C (p.Ala423Pro) n.1512G>C c.874G>C (p.Ala292Pro) c.861G>C n.820C>G | |
| 14 | g.30886045G= | CA2126958516 | COCH | c.1405G= (p.Ala469=) c.1210G= (p.Ala404=) c.1267G= (p.Ala423=) n.1512G= c.874G= (p.Ala292=) c.861G= n.820C= | |
| 14 | g.30886045G>T | CA389348521 | COCH | c.1405G>T (p.Ala469Ser) c.1210G>T (p.Ala404Ser) c.1267G>T (p.Ala423Ser) n.1512G>T c.874G>T (p.Ala292Ser) c.861G>T n.820C>A | |
| 14 | g.30886046C>A | CA389348522 | COCH | c.1406C>A (p.Ala469Asp) c.1211C>A (p.Ala404Asp) c.1268C>A (p.Ala423Asp) n.1513C>A c.875C>A (p.Ala292Asp) c.862C>A n.819G>T | |
| 14 | g.30886046C= | CA2126958518 | COCH | c.1406C= (p.Ala469=) c.1211C= (p.Ala404=) c.1268C= (p.Ala423=) n.1513C= c.875C= (p.Ala292=) c.862C= n.819G= | |
| 14 | g.30886046C>G | CA389348523 | COCH | c.1406C>G (p.Ala469Gly) c.1211C>G (p.Ala404Gly) c.1268C>G (p.Ala423Gly) n.1513C>G c.875C>G (p.Ala292Gly) c.862C>G n.819G>C | |
| 14 | g.30886046C>T | CA389348524 | COCH | c.1406C>T (p.Ala469Val) c.1211C>T (p.Ala404Val) c.1268C>T (p.Ala423Val) n.1513C>T c.875C>T (p.Ala292Val) c.862C>T n.819G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886047C>A | CA486083777 | COCH | c.1407C>A (p.Ala469=) c.1212C>A (p.Ala404=) c.1269C>A (p.Ala423=) n.1514C>A c.876C>A (p.Ala292=) c.863C>A n.818G>T | |
| 14 | g.30886047C>G | CA486083778 | COCH | c.1407C>G (p.Ala469=) c.1212C>G (p.Ala404=) c.1269C>G (p.Ala423=) n.1514C>G c.876C>G (p.Ala292=) c.863C>G n.818G>C | |
| 14 | g.30886047C>T | CA486083779 | COCH | c.1407C>T (p.Ala469=) c.1212C>T (p.Ala404=) c.1269C>T (p.Ala423=) n.1514C>T c.876C>T (p.Ala292=) c.863C>T n.818G>A | |
| 14 | g.30886048A>C | CA389348527 | COCH | c.1408A>C (p.Lys470Gln) c.1213A>C (p.Lys405Gln) c.1270A>C (p.Lys424Gln) n.1515A>C c.877A>C (p.Lys293Gln) c.864A>C n.817T>G | gnomAD v4 |
| 14 | g.30886048A>G | CA389348525 | COCH | c.1408A>G (p.Lys470Glu) c.1213A>G (p.Lys405Glu) c.1270A>G (p.Lys424Glu) n.1515A>G c.877A>G (p.Lys293Glu) c.864A>G n.817T>C | |
| 14 | g.30886048A>T | CA389348526 | COCH | c.1408A>T (p.Lys470Ter) c.1213A>T (p.Lys405Ter) c.1270A>T (p.Lys424Ter) n.1515A>T c.877A>T (p.Lys293Ter) c.864A>T n.817T>A | |
| 14 | g.30886049A= | CA2126958522 | COCH | c.1409A= (p.Lys470=) c.1214A= (p.Lys405=) c.1271A= (p.Lys424=) n.1516A= c.878A= (p.Lys293=) c.865A= n.816T= | |
| 14 | g.30886049A>C | CA7143288 | COCH | c.1409A>C (p.Lys470Thr) c.1214A>C (p.Lys405Thr) c.1271A>C (p.Lys424Thr) n.1516A>C c.878A>C (p.Lys293Thr) c.865A>C n.816T>G | dbSNP ExAC gnomAD v2 |
| 14 | g.30886049A>G | CA389348528 | COCH | c.1409A>G (p.Lys470Arg) c.1214A>G (p.Lys405Arg) c.1271A>G (p.Lys424Arg) n.1516A>G c.878A>G (p.Lys293Arg) c.865A>G n.816T>C | |
| 14 | g.30886049A>T | CA389348529 | COCH | c.1409A>T (p.Lys470Met) c.1214A>T (p.Lys405Met) c.1271A>T (p.Lys424Met) n.1516A>T c.878A>T (p.Lys293Met) c.865A>T n.816T>A | |
| 14 | g.30886050G>A | CA486083780 | COCH | c.1410G>A (p.Lys470=) c.1215G>A (p.Lys405=) c.1272G>A (p.Lys424=) n.1517G>A c.879G>A (p.Lys293=) c.866G>A n.815C>T | |
| 14 | g.30886050G>C | CA389348530 | COCH | c.1410G>C (p.Lys470Asn) c.1215G>C (p.Lys405Asn) c.1272G>C (p.Lys424Asn) n.1517G>C c.879G>C (p.Lys293Asn) c.866G>C n.815C>G | gnomAD v4 |
| 14 | g.30886050G>T | CA389348531 | COCH | c.1410G>T (p.Lys470Asn) c.1215G>T (p.Lys405Asn) c.1272G>T (p.Lys424Asn) n.1517G>T c.879G>T (p.Lys293Asn) c.866G>T n.815C>A | |
| 14 | g.30886051A>C | CA389348532 | COCH | c.1411A>C (p.Ile471Leu) c.1216A>C (p.Ile406Leu) c.1273A>C (p.Ile425Leu) n.1518A>C c.880A>C (p.Ile294Leu) c.867A>C n.814T>G | |
| 14 | g.30886051A>G | CA389348534 | COCH | c.1411A>G (p.Ile471Val) c.1216A>G (p.Ile406Val) c.1273A>G (p.Ile425Val) n.1518A>G c.880A>G (p.Ile294Val) c.867A>G n.814T>C | |
| 14 | g.30886051A>T | CA389348533 | COCH | c.1411A>T (p.Ile471Leu) c.1216A>T (p.Ile406Leu) c.1273A>T (p.Ile425Leu) n.1518A>T c.880A>T (p.Ile294Leu) c.867A>T n.814T>A | |
| 14 | g.30886052T>A | CA389348535 | COCH | c.1412T>A (p.Ile471Lys) c.1217T>A (p.Ile406Lys) c.1274T>A (p.Ile425Lys) n.1519T>A c.881T>A (p.Ile294Lys) c.868T>A n.813A>T | |
| 14 | g.30886052T>C | CA258541146 | COCH | c.1412T>C (p.Ile471Thr) c.1217T>C (p.Ile406Thr) c.1274T>C (p.Ile425Thr) n.1519T>C c.881T>C (p.Ile294Thr) c.868T>C n.813A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886052T>G | CA389348536 | COCH | c.1412T>G (p.Ile471Arg) c.1217T>G (p.Ile406Arg) c.1274T>G (p.Ile425Arg) n.1519T>G c.881T>G (p.Ile294Arg) c.868T>G n.813A>C | gnomAD v4 |
| 14 | g.30886052T= | CA2126958528 | COCH | c.1412T= (p.Ile471=) c.1217T= (p.Ile406=) c.1274T= (p.Ile425=) n.1519T= c.881T= (p.Ile294=) c.868T= n.813A= | |
| 14 | g.30886053A>C | CA486083781 | COCH | c.1413A>C (p.Ile471=) c.1218A>C (p.Ile406=) c.1275A>C (p.Ile425=) n.1520A>C c.882A>C (p.Ile294=) c.869A>C n.812T>G | |
| 14 | g.30886053A>G | CA389348537 | COCH | c.1413A>G (p.Ile471Met) c.1218A>G (p.Ile406Met) c.1275A>G (p.Ile425Met) n.1520A>G c.882A>G (p.Ile294Met) c.869A>G n.812T>C | |
| 14 | g.30886053A>T | CA486083782 | COCH | c.1413A>T (p.Ile471=) c.1218A>T (p.Ile406=) c.1275A>T (p.Ile425=) n.1520A>T c.882A>T (p.Ile294=) c.869A>T n.812T>A | |
| 14 | g.30886054G>A | CA389348538 | COCH | c.1414G>A (p.Ala472Thr) c.1219G>A (p.Ala407Thr) c.1276G>A (p.Ala426Thr) n.1521G>A c.883G>A (p.Ala295Thr) c.870G>A n.811C>T | |
| 14 | g.30886054G>C | CA389348539 | COCH | c.1414G>C (p.Ala472Pro) c.1219G>C (p.Ala407Pro) c.1276G>C (p.Ala426Pro) n.1521G>C c.883G>C (p.Ala295Pro) c.870G>C n.811C>G | |
| 14 | g.30886054G>T | CA389348540 | COCH | c.1414G>T (p.Ala472Ser) c.1219G>T (p.Ala407Ser) c.1276G>T (p.Ala426Ser) n.1521G>T c.883G>T (p.Ala295Ser) c.870G>T n.811C>A | |
| 14 | g.30886055C>A | CA389348541 | COCH | c.1415C>A (p.Ala472Asp) c.1220C>A (p.Ala407Asp) c.1277C>A (p.Ala426Asp) n.1522C>A c.884C>A (p.Ala295Asp) c.871C>A n.810G>T | |
| 14 | g.30886055C= | CA2126958529 | COCH | c.1415C= (p.Ala472=) c.1220C= (p.Ala407=) c.1277C= (p.Ala426=) n.1522C= c.884C= (p.Ala295=) c.871C= n.810G= | |
| 14 | g.30886055C>G | CA389348542 | COCH | c.1415C>G (p.Ala472Gly) c.1220C>G (p.Ala407Gly) c.1277C>G (p.Ala426Gly) n.1522C>G c.884C>G (p.Ala295Gly) c.871C>G n.810G>C | |
| 14 | g.30886055C>T | CA258541150 | COCH | c.1415C>T (p.Ala472Val) c.1220C>T (p.Ala407Val) c.1277C>T (p.Ala426Val) n.1522C>T c.884C>T (p.Ala295Val) c.871C>T n.810G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886056T>A | CA486083783 | COCH | c.1416T>A (p.Ala472=) c.1221T>A (p.Ala407=) c.1278T>A (p.Ala426=) n.1523T>A c.885T>A (p.Ala295=) c.872T>A n.809A>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886056T>C | CA7143289 | COCH | c.1416T>C (p.Ala472=) c.1221T>C (p.Ala407=) c.1278T>C (p.Ala426=) n.1523T>C c.885T>C (p.Ala295=) c.872T>C n.809A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886056T>G | CA486083784 | COCH | c.1416T>G (p.Ala472=) c.1221T>G (p.Ala407=) c.1278T>G (p.Ala426=) n.1523T>G c.885T>G (p.Ala295=) c.872T>G n.809A>C | |
| 14 | g.30886056T= | CA2126958534 | COCH | c.1416T= (p.Ala472=) c.1221T= (p.Ala407=) c.1278T= (p.Ala426=) n.1523T= c.885T= (p.Ala295=) c.872T= n.809A= | |
| 14 | g.30886057G>A | CA389348543 | COCH | c.1417G>A (p.Ala473Thr) c.1222G>A (p.Ala408Thr) c.1279G>A (p.Ala427Thr) n.1524G>A c.886G>A (p.Ala296Thr) c.873G>A n.808C>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886057G>C | CA389348545 | COCH | c.1417G>C (p.Ala473Pro) c.1222G>C (p.Ala408Pro) c.1279G>C (p.Ala427Pro) n.1524G>C c.886G>C (p.Ala296Pro) c.873G>C n.808C>G | |
| 14 | g.30886057G= | CA2126958539 | COCH | c.1417G= (p.Ala473=) c.1222G= (p.Ala408=) c.1279G= (p.Ala427=) n.1524G= c.886G= (p.Ala296=) c.873G= n.808C= | |
| 14 | g.30886057G>T | CA389348544 | COCH | c.1417G>T (p.Ala473Ser) c.1222G>T (p.Ala408Ser) c.1279G>T (p.Ala427Ser) n.1524G>T c.886G>T (p.Ala296Ser) c.873G>T n.808C>A | |
| 14 | g.30886058C>A | CA389348546 | COCH | c.1418C>A (p.Ala473Asp) c.1223C>A (p.Ala408Asp) c.1280C>A (p.Ala427Asp) n.1525C>A c.887C>A (p.Ala296Asp) c.874C>A n.807G>T | |
| 14 | g.30886058C>G | CA389348547 | COCH | c.1418C>G (p.Ala473Gly) c.1223C>G (p.Ala408Gly) c.1280C>G (p.Ala427Gly) n.1525C>G c.887C>G (p.Ala296Gly) c.874C>G n.807G>C | |
| 14 | g.30886058C>T | CA389348548 | COCH | c.1418C>T (p.Ala473Val) c.1223C>T (p.Ala408Val) c.1280C>T (p.Ala427Val) n.1525C>T c.887C>T (p.Ala296Val) c.874C>T n.807G>A | |
| 14 | g.30886059T>A | CA486083785 | COCH | c.1419T>A (p.Ala473=) c.1224T>A (p.Ala408=) c.1281T>A (p.Ala427=) n.1526T>A c.888T>A (p.Ala296=) c.875T>A n.806A>T | |
| 14 | g.30886059T>C | CA486083786 | COCH | c.1419T>C (p.Ala473=) c.1224T>C (p.Ala408=) c.1281T>C (p.Ala427=) n.1526T>C c.888T>C (p.Ala296=) c.875T>C n.806A>G | |
| 14 | g.30886059T>G | CA486083787 | COCH | c.1419T>G (p.Ala473=) c.1224T>G (p.Ala408=) c.1281T>G (p.Ala427=) n.1526T>G c.888T>G (p.Ala296=) c.875T>G n.806A>C | |
| 14 | g.30886060G>A | CA389348549 | COCH | c.1420G>A (p.Val474Ile) c.1225G>A (p.Val409Ile) c.1282G>A (p.Val428Ile) n.1527G>A c.889G>A (p.Val297Ile) c.876G>A n.805C>T | |
| 14 | g.30886060G>C | CA389348550 | COCH | c.1420G>C (p.Val474Leu) c.1225G>C (p.Val409Leu) c.1282G>C (p.Val428Leu) n.1527G>C c.889G>C (p.Val297Leu) c.876G>C n.805C>G | dbSNP |
| 14 | g.30886060G= | CA2126958546 | COCH | c.1420G= (p.Val474=) c.1225G= (p.Val409=) c.1282G= (p.Val428=) n.1527G= c.889G= (p.Val297=) c.876G= n.805C= | |
| 14 | g.30886060G>T | CA389348551 | COCH | c.1420G>T (p.Val474Leu) c.1225G>T (p.Val409Leu) c.1282G>T (p.Val428Leu) n.1527G>T c.889G>T (p.Val297Leu) c.876G>T n.805C>A | |
| 14 | g.30886061T>A | CA389348552 | COCH | c.1421T>A (p.Val474Glu) c.1226T>A (p.Val409Glu) c.1283T>A (p.Val428Glu) n.1528T>A c.890T>A (p.Val297Glu) c.877T>A n.804A>T | |
| 14 | g.30886061T>C | CA389348553 | COCH | c.1421T>C (p.Val474Ala) c.1226T>C (p.Val409Ala) c.1283T>C (p.Val428Ala) n.1528T>C c.890T>C (p.Val297Ala) c.877T>C n.804A>G | |
| 14 | g.30886061T>G | CA389348554 | COCH | c.1421T>G (p.Val474Gly) c.1226T>G (p.Val409Gly) c.1283T>G (p.Val428Gly) n.1528T>G c.890T>G (p.Val297Gly) c.877T>G n.804A>C | |
| 14 | g.30886062A>C | CA486083788 | COCH | c.1422A>C (p.Val474=) c.1227A>C (p.Val409=) c.1284A>C (p.Val428=) n.1529A>C c.891A>C (p.Val297=) c.878A>C n.803T>G | |
| 14 | g.30886062A>G | CA486083789 | COCH | c.1422A>G (p.Val474=) c.1227A>G (p.Val409=) c.1284A>G (p.Val428=) n.1529A>G c.891A>G (p.Val297=) c.878A>G n.803T>C | |
| 14 | g.30886062A>T | CA486083790 | COCH | c.1422A>T (p.Val474=) c.1227A>T (p.Val409=) c.1284A>T (p.Val428=) n.1529A>T c.891A>T (p.Val297=) c.878A>T n.803T>A | |
| 14 | g.30886063C>A | CA389348555 | COCH | c.1423C>A (p.Gln475Lys) c.1228C>A (p.Gln410Lys) c.1285C>A (p.Gln429Lys) n.1530C>A c.892C>A (p.Gln298Lys) c.879C>A n.802G>T | |
| 14 | g.30886063C>G | CA389348556 | COCH | c.1423C>G (p.Gln475Glu) c.1228C>G (p.Gln410Glu) c.1285C>G (p.Gln429Glu) n.1530C>G c.892C>G (p.Gln298Glu) c.879C>G n.802G>C | gnomAD v4 |
| 14 | g.30886063C>T | CA389348557 | COCH | c.1423C>T (p.Gln475Ter) c.1228C>T (p.Gln410Ter) c.1285C>T (p.Gln429Ter) n.1530C>T c.892C>T (p.Gln298Ter) c.879C>T n.802G>A | gnomAD v4 |
| 14 | g.30886064A>C | CA389348558 | COCH | c.1424A>C (p.Gln475Pro) c.1229A>C (p.Gln410Pro) c.1286A>C (p.Gln429Pro) n.1531A>C c.893A>C (p.Gln298Pro) c.880A>C n.801T>G | |
| 14 | g.30886064A>G | CA389348560 | COCH | c.1424A>G (p.Gln475Arg) c.1229A>G (p.Gln410Arg) c.1286A>G (p.Gln429Arg) n.1531A>G c.893A>G (p.Gln298Arg) c.880A>G n.801T>C | |
| 14 | g.30886064A>T | CA389348559 | COCH | c.1424A>T (p.Gln475Leu) c.1229A>T (p.Gln410Leu) c.1286A>T (p.Gln429Leu) n.1531A>T c.893A>T (p.Gln298Leu) c.880A>T n.801T>A | |
| 14 | g.30886065G>A | CA486083791 | COCH | c.1425G>A (p.Gln475=) c.1230G>A (p.Gln410=) c.1287G>A (p.Gln429=) n.1532G>A c.894G>A (p.Gln298=) c.881G>A n.800C>T | |
| 14 | g.30886065G>C | CA389348561 | COCH | c.1425G>C (p.Gln475His) c.1230G>C (p.Gln410His) c.1287G>C (p.Gln429His) n.1532G>C c.894G>C (p.Gln298His) c.881G>C n.800C>G | |
| 14 | g.30886065G>T | CA389348562 | COCH | c.1425G>T (p.Gln475His) c.1230G>T (p.Gln410His) c.1287G>T (p.Gln429His) n.1532G>T c.894G>T (p.Gln298His) c.881G>T n.800C>A | |
| 14 | g.30886066T>A | CA389348563 | COCH | c.1426T>A (p.Phe476Ile) c.1231T>A (p.Phe411Ile) c.1288T>A (p.Phe430Ile) n.1533T>A c.895T>A (p.Phe299Ile) c.882T>A n.799A>T | |
| 14 | g.30886066T>C | CA389348564 | COCH | c.1426T>C (p.Phe476Leu) c.1231T>C (p.Phe411Leu) c.1288T>C (p.Phe430Leu) n.1533T>C c.895T>C (p.Phe299Leu) c.882T>C n.799A>G | |
| 14 | g.30886066T>G | CA389348565 | COCH | c.1426T>G (p.Phe476Val) c.1231T>G (p.Phe411Val) c.1288T>G (p.Phe430Val) n.1533T>G c.895T>G (p.Phe299Val) c.882T>G n.799A>C | |
| 14 | g.30886067T>A | CA389348566 | COCH | c.1427T>A (p.Phe476Tyr) c.1232T>A (p.Phe411Tyr) c.1289T>A (p.Phe430Tyr) n.1534T>A c.896T>A (p.Phe299Tyr) c.883T>A n.798A>T | |
| 14 | g.30886067T>C | CA389348567 | COCH | c.1427T>C (p.Phe476Ser) c.1232T>C (p.Phe411Ser) c.1289T>C (p.Phe430Ser) n.1534T>C c.896T>C (p.Phe299Ser) c.883T>C n.798A>G | |
| 14 | g.30886067T>G | CA389348568 | COCH | c.1427T>G (p.Phe476Cys) c.1232T>G (p.Phe411Cys) c.1289T>G (p.Phe430Cys) n.1534T>G c.896T>G (p.Phe299Cys) c.883T>G n.798A>C | |
| 14 | g.30886068T>A | CA389348569 | COCH | c.1428T>A (p.Phe476Leu) c.1233T>A (p.Phe411Leu) c.1290T>A (p.Phe430Leu) n.1535T>A c.897T>A (p.Phe299Leu) c.884T>A n.797A>T | |
| 14 | g.30886068T>C | CA486083792 | COCH | c.1428T>C (p.Phe476=) c.1233T>C (p.Phe411=) c.1290T>C (p.Phe430=) n.1535T>C c.897T>C (p.Phe299=) c.884T>C n.797A>G | |
| 14 | g.30886068T>G | CA389348570 | COCH | c.1428T>G (p.Phe476Leu) c.1233T>G (p.Phe411Leu) c.1290T>G (p.Phe430Leu) n.1535T>G c.897T>G (p.Phe299Leu) c.884T>G n.797A>C | |
| 14 | g.30886069A>C | CA389348572 | COCH | c.1429A>C (p.Thr477Pro) c.1234A>C (p.Thr412Pro) c.1291A>C (p.Thr431Pro) n.1536A>C c.898A>C (p.Thr300Pro) c.885A>C n.796T>G | |
| 14 | g.30886069A>G | CA389348573 | COCH | c.1429A>G (p.Thr477Ala) c.1234A>G (p.Thr412Ala) c.1291A>G (p.Thr431Ala) n.1536A>G c.898A>G (p.Thr300Ala) c.885A>G n.796T>C | |
| 14 | g.30886069A>T | CA389348571 | COCH | c.1429A>T (p.Thr477Ser) c.1234A>T (p.Thr412Ser) c.1291A>T (p.Thr431Ser) n.1536A>T c.898A>T (p.Thr300Ser) c.885A>T n.796T>A | |
| 14 | g.30886070C>A | CA389348576 | COCH | c.1430C>A (p.Thr477Asn) c.1235C>A (p.Thr412Asn) c.1292C>A (p.Thr431Asn) n.1537C>A c.899C>A (p.Thr300Asn) c.886C>A n.795G>T | |
| 14 | g.30886070C>G | CA389348574 | COCH | c.1430C>G (p.Thr477Ser) c.1235C>G (p.Thr412Ser) c.1292C>G (p.Thr431Ser) n.1537C>G c.899C>G (p.Thr300Ser) c.886C>G n.795G>C | |
| 14 | g.30886070C>T | CA389348575 | COCH | c.1430C>T (p.Thr477Ile) c.1235C>T (p.Thr412Ile) c.1292C>T (p.Thr431Ile) n.1537C>T c.899C>T (p.Thr300Ile) c.886C>T n.795G>A | gnomAD v4 |
| 14 | g.30886071T>A | CA486083793 | COCH | c.1431T>A (p.Thr477=) c.1236T>A (p.Thr412=) c.1293T>A (p.Thr431=) n.1538T>A c.900T>A (p.Thr300=) c.887T>A n.794A>T | |
| 14 | g.30886071T>C | CA486083794 | COCH | c.1431T>C (p.Thr477=) c.1236T>C (p.Thr412=) c.1293T>C (p.Thr431=) n.1538T>C c.900T>C (p.Thr300=) c.887T>C n.794A>G | |
| 14 | g.30886071T>G | CA486083795 | COCH | c.1431T>G (p.Thr477=) c.1236T>G (p.Thr412=) c.1293T>G (p.Thr431=) n.1538T>G c.900T>G (p.Thr300=) c.887T>G n.794A>C | |
| 14 | g.30886072T>A | CA389348577 | COCH | c.1432T>A (p.Tyr478Asn) c.1237T>A (p.Tyr413Asn) c.1294T>A (p.Tyr432Asn) n.1539T>A c.901T>A (p.Tyr301Asn) c.888T>A n.793A>T | |
| 14 | g.30886072T>C | CA389348578 | COCH | c.1432T>C (p.Tyr478His) c.1237T>C (p.Tyr413His) c.1294T>C (p.Tyr432His) n.1539T>C c.901T>C (p.Tyr301His) c.888T>C n.793A>G | |
| 14 | g.30886072T>G | CA389348579 | COCH | c.1432T>G (p.Tyr478Asp) c.1237T>G (p.Tyr413Asp) c.1294T>G (p.Tyr432Asp) n.1539T>G c.901T>G (p.Tyr301Asp) c.888T>G n.793A>C | |
| 14 | g.30886073A>C | CA389348580 | COCH | c.1433A>C (p.Tyr478Ser) c.1238A>C (p.Tyr413Ser) c.1295A>C (p.Tyr432Ser) n.1540A>C c.902A>C (p.Tyr301Ser) c.889A>C n.792T>G | gnomAD v4 |
| 14 | g.30886073A>G | CA389348581 | COCH | c.1433A>G (p.Tyr478Cys) c.1238A>G (p.Tyr413Cys) c.1295A>G (p.Tyr432Cys) n.1540A>G c.902A>G (p.Tyr301Cys) c.889A>G n.792T>C | |
| 14 | g.30886073A>T | CA389348582 | COCH | c.1433A>T (p.Tyr478Phe) c.1238A>T (p.Tyr413Phe) c.1295A>T (p.Tyr432Phe) n.1540A>T c.902A>T (p.Tyr301Phe) c.889A>T n.792T>A | |
| 14 | g.30886074T>A | CA389348583 | COCH | c.1434T>A (p.Tyr478Ter) c.1239T>A (p.Tyr413Ter) c.1296T>A (p.Tyr432Ter) n.1541T>A c.903T>A (p.Tyr301Ter) c.890T>A n.791A>T | |
| 14 | g.30886074T>C | CA7143290 | COCH | c.1434T>C (p.Tyr478=) c.1239T>C (p.Tyr413=) c.1296T>C (p.Tyr432=) n.1541T>C c.903T>C (p.Tyr301=) c.890T>C n.791A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.30886074T>G | CA389348584 | COCH | c.1434T>G (p.Tyr478Ter) c.1239T>G (p.Tyr413Ter) c.1296T>G (p.Tyr432Ter) n.1541T>G c.903T>G (p.Tyr301Ter) c.890T>G n.791A>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886074T= | CA2126958554 | COCH | c.1434T= (p.Tyr478=) c.1239T= (p.Tyr413=) c.1296T= (p.Tyr432=) n.1541T= c.903T= (p.Tyr301=) c.890T= n.791A= | |
| 14 | g.30886075G>A | CA389348587 | COCH | c.1435G>A (p.Asp479Asn) c.1240G>A (p.Asp414Asn) c.1297G>A (p.Asp433Asn) n.1542G>A c.904G>A (p.Asp302Asn) c.891G>A n.790C>T | |
| 14 | g.30886075G>C | CA389348586 | COCH | c.1435G>C (p.Asp479His) c.1240G>C (p.Asp414His) c.1297G>C (p.Asp433His) n.1542G>C c.904G>C (p.Asp302His) c.891G>C n.790C>G | dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 14 | g.30886075G= | CA2126958560 | COCH | c.1435G= (p.Asp479=) c.1240G= (p.Asp414=) c.1297G= (p.Asp433=) n.1542G= c.904G= (p.Asp302=) c.891G= n.790C= | |
| 14 | g.30886075G>T | CA389348585 | COCH | c.1435G>T (p.Asp479Tyr) c.1240G>T (p.Asp414Tyr) c.1297G>T (p.Asp433Tyr) n.1542G>T c.904G>T (p.Asp302Tyr) c.891G>T n.790C>A | |
| 14 | g.30886076A>C | CA389348588 | COCH | c.1436A>C (p.Asp479Ala) c.1241A>C (p.Asp414Ala) c.1298A>C (p.Asp433Ala) n.1543A>C c.905A>C (p.Asp302Ala) c.892A>C n.789T>G | |
| 14 | g.30886076A>G | CA389348589 | COCH | c.1436A>G (p.Asp479Gly) c.1241A>G (p.Asp414Gly) c.1298A>G (p.Asp433Gly) n.1543A>G c.905A>G (p.Asp302Gly) c.892A>G n.789T>C | |
| 14 | g.30886076A>T | CA389348590 | COCH | c.1436A>T (p.Asp479Val) c.1241A>T (p.Asp414Val) c.1298A>T (p.Asp433Val) n.1543A>T c.905A>T (p.Asp302Val) c.892A>T n.789T>A | |
| 14 | g.30886077T>A | CA389348591 | COCH | c.1437T>A (p.Asp479Glu) c.1242T>A (p.Asp414Glu) c.1299T>A (p.Asp433Glu) n.1544T>A c.906T>A (p.Asp302Glu) c.893T>A n.788A>T | |
| 14 | g.30886077T>C | CA486083796 | COCH | c.1437T>C (p.Asp479=) c.1242T>C (p.Asp414=) c.1299T>C (p.Asp433=) n.1544T>C c.906T>C (p.Asp302=) c.893T>C n.788A>G | |
| 14 | g.30886077T>G | CA389348592 | COCH | c.1437T>G (p.Asp479Glu) c.1242T>G (p.Asp414Glu) c.1299T>G (p.Asp433Glu) n.1544T>G c.906T>G (p.Asp302Glu) c.893T>G n.788A>C | gnomAD v4 |
| 14 | g.30886078C>A | CA389348593 | COCH | c.1438C>A (p.Gln480Lys) c.1243C>A (p.Gln415Lys) c.1300C>A (p.Gln434Lys) n.1545C>A c.907C>A (p.Gln303Lys) c.894C>A n.787G>T | |
| 14 | g.30886078C>G | CA389348594 | COCH | c.1438C>G (p.Gln480Glu) c.1243C>G (p.Gln415Glu) c.1300C>G (p.Gln434Glu) n.1545C>G c.907C>G (p.Gln303Glu) c.894C>G n.787G>C | |
| 14 | g.30886078C>T | CA389348595 | COCH | c.1438C>T (p.Gln480Ter) c.1243C>T (p.Gln415Ter) c.1300C>T (p.Gln434Ter) n.1545C>T c.907C>T (p.Gln303Ter) c.894C>T n.787G>A | |
| 14 | g.30886079A>C | CA389348596 | COCH | c.1439A>C (p.Gln480Pro) c.1244A>C (p.Gln415Pro) c.1301A>C (p.Gln434Pro) n.1546A>C c.908A>C (p.Gln303Pro) c.895A>C n.786T>G | |
| 14 | g.30886079A>G | CA389348597 | COCH | c.1439A>G (p.Gln480Arg) c.1244A>G (p.Gln415Arg) c.1301A>G (p.Gln434Arg) n.1546A>G c.908A>G (p.Gln303Arg) c.895A>G n.786T>C | |
| 14 | g.30886079A>T | CA389348598 | COCH | c.1439A>T (p.Gln480Leu) c.1244A>T (p.Gln415Leu) c.1301A>T (p.Gln434Leu) n.1546A>T c.908A>T (p.Gln303Leu) c.895A>T n.786T>A | |
| 14 | g.30886080G>A | CA486083797 | COCH | c.1440G>A (p.Gln480=) c.1245G>A (p.Gln415=) c.1302G>A (p.Gln434=) n.1547G>A c.909G>A (p.Gln303=) c.896G>A n.785C>T | |
| 14 | g.30886080G>C | CA389348599 | COCH | c.1440G>C (p.Gln480His) c.1245G>C (p.Gln415His) c.1302G>C (p.Gln434His) n.1547G>C c.909G>C (p.Gln303His) c.896G>C n.785C>G | |
| 14 | g.30886080G>T | CA389348600 | COCH | c.1440G>T (p.Gln480His) c.1245G>T (p.Gln415His) c.1302G>T (p.Gln434His) n.1547G>T c.909G>T (p.Gln303His) c.896G>T n.785C>A | |
| 14 | g.30886081C>A | CA389348601 | COCH | c.1441C>A (p.Arg481Ser) c.1246C>A (p.Arg416Ser) c.1303C>A (p.Arg435Ser) n.1548C>A c.910C>A (p.Arg304Ser) c.897C>A n.784G>T | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886081C= | CA2126958562 | COCH | c.1441C= (p.Arg481=) c.1246C= (p.Arg416=) c.1303C= (p.Arg435=) n.1548C= c.910C= (p.Arg304=) c.897C= n.784G= | |
| 14 | g.30886081C>G | CA389348602 | COCH | c.1441C>G (p.Arg481Gly) c.1246C>G (p.Arg416Gly) c.1303C>G (p.Arg435Gly) n.1548C>G c.910C>G (p.Arg304Gly) c.897C>G n.784G>C | |
| 14 | g.30886081C>T | CA7143291 | COCH | c.1441C>T (p.Arg481Cys) c.1246C>T (p.Arg416Cys) c.1303C>T (p.Arg435Cys) n.1548C>T c.910C>T (p.Arg304Cys) c.897C>T n.784G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886082G>A | CA258541191 | COCH | c.1442G>A (p.Arg481His) c.1247G>A (p.Arg416His) c.1304G>A (p.Arg435His) n.1549G>A c.911G>A (p.Arg304His) c.898G>A n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886082G>C | CA389348603 | COCH | c.1442G>C (p.Arg481Pro) c.1247G>C (p.Arg416Pro) c.1304G>C (p.Arg435Pro) n.1549G>C c.911G>C (p.Arg304Pro) c.898G>C n.783C>G | |
| 14 | g.30886082G= | CA2126958567 | COCH | c.1442G= (p.Arg481=) c.1247G= (p.Arg416=) c.1304G= (p.Arg435=) n.1549G= c.911G= (p.Arg304=) c.898G= n.783C= | |
| 14 | g.30886082G>T | CA389348604 | COCH | c.1442G>T (p.Arg481Leu) c.1247G>T (p.Arg416Leu) c.1304G>T (p.Arg435Leu) n.1549G>T c.911G>T (p.Arg304Leu) c.898G>T n.783C>A | dbSNP |
| 14 | g.30886083C>A | CA486083798 | COCH | c.1443C>A (p.Arg481=) c.1248C>A (p.Arg416=) c.1305C>A (p.Arg435=) n.1550C>A c.912C>A (p.Arg304=) c.899C>A n.782G>T | |
| 14 | g.30886083C>G | CA486083800 | COCH | c.1443C>G (p.Arg481=) c.1248C>G (p.Arg416=) c.1305C>G (p.Arg435=) n.1550C>G c.912C>G (p.Arg304=) c.899C>G n.782G>C | |
| 14 | g.30886083C>T | CA486083799 | COCH | c.1443C>T (p.Arg481=) c.1248C>T (p.Arg416=) c.1305C>T (p.Arg435=) n.1550C>T c.912C>T (p.Arg304=) c.899C>T n.782G>A | |
| 14 | g.30886084A>C | CA389348605 | COCH | c.1444A>C (p.Thr482Pro) c.1249A>C (p.Thr417Pro) c.1306A>C (p.Thr436Pro) n.1551A>C c.913A>C (p.Thr305Pro) c.900A>C n.781T>G | |
| 14 | g.30886084A>G | CA389348606 | COCH | c.1444A>G (p.Thr482Ala) c.1249A>G (p.Thr417Ala) c.1306A>G (p.Thr436Ala) n.1551A>G c.913A>G (p.Thr305Ala) c.900A>G n.781T>C | gnomAD v4 |
| 14 | g.30886084A>T | CA389348607 | COCH | c.1444A>T (p.Thr482Ser) c.1249A>T (p.Thr417Ser) c.1306A>T (p.Thr436Ser) n.1551A>T c.913A>T (p.Thr305Ser) c.900A>T n.781T>A | |
| 14 | g.30886085C>A | CA389348608 | COCH | c.1445C>A (p.Thr482Lys) c.1250C>A (p.Thr417Lys) c.1307C>A (p.Thr436Lys) n.1552C>A c.914C>A (p.Thr305Lys) c.901C>A n.780G>T | ClinVar |
| 14 | g.30886085C= | CA2126958587 | COCH | c.1445C= (p.Thr482=) c.1250C= (p.Thr417=) c.1307C= (p.Thr436=) n.1552C= c.914C= (p.Thr305=) c.901C= n.780G= | |
| 14 | g.30886085C>G | CA389348609 | COCH | c.1445C>G (p.Thr482Arg) c.1250C>G (p.Thr417Arg) c.1307C>G (p.Thr436Arg) n.1552C>G c.914C>G (p.Thr305Arg) c.901C>G n.780G>C | |
| 14 | g.30886085C>T | CA7143292 | COCH | c.1445C>T (p.Thr482Met) c.1250C>T (p.Thr417Met) c.1307C>T (p.Thr436Met) n.1552C>T c.914C>T (p.Thr305Met) c.901C>T n.780G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 14 | g.30886086G>A | CA7143293 | COCH | c.1446G>A (p.Thr482=) c.1251G>A (p.Thr417=) c.1308G>A (p.Thr436=) n.1553G>A c.915G>A (p.Thr305=) c.902G>A n.779C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 14 | g.30886086G>C | CA486083801 | COCH | c.1446G>C (p.Thr482=) c.1251G>C (p.Thr417=) c.1308G>C (p.Thr436=) n.1553G>C c.915G>C (p.Thr305=) c.902G>C n.779C>G | dbSNP gnomAD v2 gnomAD v4 |
| 14 | g.30886086G= | CA2126958599 | COCH | c.1446G= (p.Thr482=) c.1251G= (p.Thr417=) c.1308G= (p.Thr436=) n.1553G= c.915G= (p.Thr305=) c.902G= n.779C= | |
| 14 | g.30886086G>T | CA486083802 | COCH | c.1446G>T (p.Thr482=) c.1251G>T (p.Thr417=) c.1308G>T (p.Thr436=) n.1553G>T c.915G>T (p.Thr305=) c.902G>T n.779C>A | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886087G>A | CA389348610 | COCH | c.1447G>A (p.Glu483Lys) c.1252G>A (p.Glu418Lys) c.1309G>A (p.Glu437Lys) n.1554G>A c.916G>A (p.Glu306Lys) c.903G>A n.778C>T | gnomAD v4 COSMIC |
| 14 | g.30886087G>C | CA389348611 | COCH | c.1447G>C (p.Glu483Gln) c.1252G>C (p.Glu418Gln) c.1309G>C (p.Glu437Gln) n.1554G>C c.916G>C (p.Glu306Gln) c.903G>C n.778C>G | COSMIC COSMIC |
| 14 | g.30886087G>T | CA389348612 | COCH | c.1447G>T (p.Glu483Ter) c.1252G>T (p.Glu418Ter) c.1309G>T (p.Glu437Ter) n.1554G>T c.916G>T (p.Glu306Ter) c.903G>T n.778C>A | |
| 14 | g.30886088A>C | CA389348615 | COCH | c.1448A>C (p.Glu483Ala) c.1253A>C (p.Glu418Ala) c.1310A>C (p.Glu437Ala) n.1555A>C c.917A>C (p.Glu306Ala) c.904A>C n.777T>G | |
| 14 | g.30886088A>G | CA389348614 | COCH | c.1448A>G (p.Glu483Gly) c.1253A>G (p.Glu418Gly) c.1310A>G (p.Glu437Gly) n.1555A>G c.917A>G (p.Glu306Gly) c.904A>G n.777T>C | |
| 14 | g.30886088A>T | CA389348613 | COCH | c.1448A>T (p.Glu483Val) c.1253A>T (p.Glu418Val) c.1310A>T (p.Glu437Val) n.1555A>T c.917A>T (p.Glu306Val) c.904A>T n.777T>A | |
| 14 | g.30886089G>A | CA486083803 | COCH | c.1449G>A (p.Glu483=) c.1254G>A (p.Glu418=) c.1311G>A (p.Glu437=) n.1556G>A c.918G>A (p.Glu306=) c.905G>A n.776C>T | |
| 14 | g.30886089G>C | CA389348616 | COCH | c.1449G>C (p.Glu483Asp) c.1254G>C (p.Glu418Asp) c.1311G>C (p.Glu437Asp) n.1556G>C c.918G>C (p.Glu306Asp) c.905G>C n.776C>G | |
| 14 | g.30886089G>T | CA389348617 | COCH | c.1449G>T (p.Glu483Asp) c.1254G>T (p.Glu418Asp) c.1311G>T (p.Glu437Asp) n.1556G>T c.918G>T (p.Glu306Asp) c.905G>T n.776C>A | |
| 14 | g.30886090T>A | CA389348618 | COCH | c.1450T>A (p.Phe484Ile) c.1255T>A (p.Phe419Ile) c.1312T>A (p.Phe438Ile) n.1557T>A c.919T>A (p.Phe307Ile) c.906T>A n.775A>T | dbSNP gnomAD v3 gnomAD v4 |
| 14 | g.30886090T>C | CA389348619 | COCH | c.1450T>C (p.Phe484Leu) c.1255T>C (p.Phe419Leu) c.1312T>C (p.Phe438Leu) n.1557T>C c.919T>C (p.Phe307Leu) c.906T>C n.775A>G | dbSNP |
| 14 | g.30886090T>G | CA389348620 | COCH | c.1450T>G (p.Phe484Val) c.1255T>G (p.Phe419Val) c.1312T>G (p.Phe438Val) n.1557T>G c.919T>G (p.Phe307Val) c.906T>G n.775A>C | |
| 14 | g.30886090T= | CA2126958600 | COCH | c.1450T= (p.Phe484=) c.1255T= (p.Phe419=) c.1312T= (p.Phe438=) n.1557T= c.919T= (p.Phe307=) c.906T= n.775A= | |
| 14 | g.30886091T>A | CA389348621 | COCH | c.1451T>A (p.Phe484Tyr) c.1256T>A (p.Phe419Tyr) c.1313T>A (p.Phe438Tyr) n.1558T>A c.920T>A (p.Phe307Tyr) c.907T>A n.774A>T | |
| 14 | g.30886091T>C | CA389348622 | COCH | c.1451T>C (p.Phe484Ser) c.1256T>C (p.Phe419Ser) c.1313T>C (p.Phe438Ser) n.1558T>C c.920T>C (p.Phe307Ser) c.907T>C n.774A>G | |
| 14 | g.30886091T>G | CA389348623 | COCH | c.1451T>G (p.Phe484Cys) c.1256T>G (p.Phe419Cys) c.1313T>G (p.Phe438Cys) n.1558T>G c.920T>G (p.Phe307Cys) c.907T>G n.774A>C | |
| 14 | g.30886092C>A | CA389348624 | COCH | c.1452C>A (p.Phe484Leu) c.1257C>A (p.Phe419Leu) c.1314C>A (p.Phe438Leu) n.1559C>A c.921C>A (p.Phe307Leu) c.908C>A n.773G>T | |
| 14 | g.30886092C>G | CA389348625 | COCH | c.1452C>G (p.Phe484Leu) c.1257C>G (p.Phe419Leu) c.1314C>G (p.Phe438Leu) n.1559C>G c.921C>G (p.Phe307Leu) c.908C>G n.773G>C | |
| 14 | g.30886092C>T | CA486083804 | COCH | c.1452C>T (p.Phe484=) c.1257C>T (p.Phe419=) c.1314C>T (p.Phe438=) n.1559C>T c.921C>T (p.Phe307=) c.908C>T n.773G>A | |
| 14 | g.30886093A>C | CA389348626 | COCH | c.1453A>C (p.Ser485Arg) c.1258A>C (p.Ser420Arg) c.1315A>C (p.Ser439Arg) n.1560A>C c.922A>C (p.Ser308Arg) c.909A>C n.772T>G | gnomAD v4 |
| 14 | g.30886093A>G | CA389348627 | COCH | c.1453A>G (p.Ser485Gly) c.1258A>G (p.Ser420Gly) c.1315A>G (p.Ser439Gly) n.1560A>G c.922A>G (p.Ser308Gly) c.909A>G n.772T>C | |
| 14 | g.30886093A>T | CA389348628 | COCH | c.1453A>T (p.Ser485Cys) c.1258A>T (p.Ser420Cys) c.1315A>T (p.Ser439Cys) n.1560A>T c.922A>T (p.Ser308Cys) c.909A>T n.772T>A | |
| 14 | g.30886094G>A | CA389348631 | COCH | c.1454G>A (p.Ser485Asn) c.1259G>A (p.Ser420Asn) c.1316G>A (p.Ser439Asn) n.1561G>A c.923G>A (p.Ser308Asn) c.910G>A n.771C>T | |
| 14 | g.30886094G>C | CA389348630 | COCH | c.1454G>C (p.Ser485Thr) c.1259G>C (p.Ser420Thr) c.1316G>C (p.Ser439Thr) n.1561G>C c.923G>C (p.Ser308Thr) c.910G>C n.771C>G | COSMIC COSMIC |
| 14 | g.30886094G>T | CA389348629 | COCH | c.1454G>T (p.Ser485Ile) c.1259G>T (p.Ser420Ile) c.1316G>T (p.Ser439Ile) n.1561G>T c.923G>T (p.Ser308Ile) c.910G>T n.771C>A |