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 |
|---|---|---|---|---|---|
| 13 | g.20189199_20189205dup | CA2695217670 | GJB2 | c.377_383dup (p.Glu129ProfsTer?) | |
| 13 | g.20189202C>A | CA241521 | GJB2 | c.380G>T (p.Arg127Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189202C= | CA2077139366 | GJB2 | c.380G= (p.Arg127=) | |
| 13 | g.20189202C>G | CA387461267 | GJB2 | c.380G>C (p.Arg127Pro) | |
| 13 | g.20189202C>T | CA134966 | GJB2 | c.380G>A (p.Arg127His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189203G>A | CA176158 | GJB2 | c.379C>T (p.Arg127Cys) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189203G>C | CA246460225 | GJB2 | c.379C>G (p.Arg127Gly) | ClinVar dbSNP |
| 13 | g.20189203G= | CA2077139371 | GJB2 | c.379C= (p.Arg127=) | |
| 13 | g.20189203G>T | CA387461268 | GJB2 | c.379C>A (p.Arg127Ser) | |
| 13 | g.20189204G>A | CA483153995 | GJB2 | c.378C>T (p.Val126=) | gnomAD v4 |
| 13 | g.20189204G>C | CA483153996 | GJB2 | c.378C>G (p.Val126=) | |
| 13 | g.20189204G>T | CA483153997 | GJB2 | c.378C>A (p.Val126=) | ClinVar dbSNP |
| 13 | g.20189204_20189205insTCCGCAT | CA2695217671 | GJB2 | c.377_378insATGCGGA (p.Arg127CysfsTer?) | |
| 13 | g.20189205A>C | CA387461269 | GJB2 | c.377T>G (p.Val126Gly) | |
| 13 | g.20189205A>G | CA387461270 | GJB2 | c.377T>C (p.Val126Ala) | gnomAD v4 |
| 13 | g.20189205A>T | CA387461271 | GJB2 | c.377T>A (p.Val126Asp) | |
| 13 | g.20189206C>A | CA387461272 | GJB2 | c.376G>T (p.Val126Phe) | |
| 13 | g.20189206C= | CA2077139375 | GJB2 | c.376G= (p.Val126=) | |
| 13 | g.20189206C>G | CA387461273 | GJB2 | c.376G>C (p.Val126Leu) | |
| 13 | g.20189206C>T | CA6904275 | GJB2 | c.376G>A (p.Val126Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189207C>A | CA387461274 | GJB2 | c.375G>T (p.Lys125Asn) | |
| 13 | g.20189207C= | CA2077139380 | GJB2 | c.375G= (p.Lys125=) | |
| 13 | g.20189207C>G | CA387461275 | GJB2 | c.375G>C (p.Lys125Asn) | |
| 13 | g.20189207C>T | CA483153998 | GJB2 | c.375G>A (p.Lys125=) | dbSNP gnomAD v4 |
| 13 | g.20189208T>A | CA387461276 | GJB2 | c.374A>T (p.Lys125Met) | |
| 13 | g.20189208T>C | CA387461277 | GJB2 | c.374A>G (p.Lys125Arg) | gnomAD v4 |
| 13 | g.20189208T>G | CA387461278 | GJB2 | c.374A>C (p.Lys125Thr) | |
| 13 | g.20189209T>A | CA387461279 | GJB2 | c.373A>T (p.Lys125Ter) | |
| 13 | g.20189209T>C | CA387461281 | GJB2 | c.373A>G (p.Lys125Glu) | |
| 13 | g.20189209T>G | CA387461280 | GJB2 | c.373A>C (p.Lys125Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189209T= | CA2077139383 | GJB2 | c.373A= (p.Lys125=) | |
| 13 | g.20189210C>A | CA387461282 | GJB2 | c.372G>T (p.Gln124His) | |
| 13 | g.20189210C>G | CA387461283 | GJB2 | c.372G>C (p.Gln124His) | |
| 13 | g.20189210C>T | CA483153999 | GJB2 | c.372G>A (p.Gln124=) | |
| 13 | g.20189211T>A | CA387461284 | GJB2 | c.371A>T (p.Gln124Leu) | |
| 13 | g.20189211T>C | CA387461285 | GJB2 | c.371A>G (p.Gln124Arg) | |
| 13 | g.20189211T>G | CA387461286 | GJB2 | c.371A>C (p.Gln124Pro) | ClinVar |
| 13 | g.20189211_20189212delinsTG | CA2077139387 | GJB2 | c.370_371delinsCA (p.Gln124=) | |
| 13 | g.20189212G>A | CA261645 | GJB2 | c.370C>T (p.Gln124Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189212G>C | CA387461287 | GJB2 | c.370C>G (p.Gln124Glu) | |
| 13 | g.20189212G= | CA2077139394 | GJB2 | c.370C= (p.Gln124=) | |
| 13 | g.20189212G>T | CA387461288 | GJB2 | c.370C>A (p.Gln124Lys) | |
| 13 | g.20189214del | CA696362935 | GJB2 | c.370del (p.Gln124ArgfsTer?) | dbSNP |
| 13 | g.20189213G>A | CA483154000 | GJB2 | c.369C>T (p.Thr123=) | gnomAD v4 |
| 13 | g.20189213G>C | CA483154001 | GJB2 | c.369C>G (p.Thr123=) | |
| 13 | g.20189213G>T | CA483154002 | GJB2 | c.369C>A (p.Thr123=) | |
| 13 | g.20189214G>A | CA387461289 | GJB2 | c.368C>T (p.Thr123Ile) | |
| 13 | g.20189214G>C | CA387461290 | GJB2 | c.368C>G (p.Thr123Ser) | |
| 13 | g.20189214G= | CA2077139401 | GJB2 | c.368C= (p.Thr123=) | |
| 13 | g.20189214G>T | CA134964 | GJB2 | c.368C>A (p.Thr123Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189215T>A | CA387461293 | GJB2 | c.367A>T (p.Thr123Ser) | |
| 13 | g.20189215T>C | CA387461292 | GJB2 | c.367A>G (p.Thr123Ala) | |
| 13 | g.20189215T>G | CA387461291 | GJB2 | c.367A>C (p.Thr123Pro) | |
| 13 | g.20189218del | CA2695217672 | GJB2 | c.367del (p.Thr123ProfsTer?) | |
| 13 | g.20189216T>A | CA387461294 | GJB2 | c.366A>T (p.Lys122Asn) | |
| 13 | g.20189216T>C | CA483154003 | GJB2 | c.366A>G (p.Lys122=) | |
| 13 | g.20189216T>G | CA387461295 | GJB2 | c.366A>C (p.Lys122Asn) | |
| 13 | g.20189217T>A | CA172230 | GJB2 | c.365A>T (p.Lys122Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189217T>C | CA387461296 | GJB2 | c.365A>G (p.Lys122Arg) | |
| 13 | g.20189217T>G | CA246460258 | GJB2 | c.365A>C (p.Lys122Thr) | dbSNP gnomAD v4 |
| 13 | g.20189217T= | CA2077139408 | GJB2 | c.365A= (p.Lys122=) | |
| 13 | g.20189218T>A | CA387461297 | GJB2 | c.364A>T (p.Lys122Ter) | |
| 13 | g.20189218T>C | CA387461298 | GJB2 | c.364A>G (p.Lys122Glu) | |
| 13 | g.20189218T>G | CA387461299 | GJB2 | c.364A>C (p.Lys122Gln) | |
| 13 | g.20189218_20189219delinsTG | CA2077139417 | GJB2 | c.363_364delinsCA (p.Ile121=) | |
| 13 | g.20189219del | CA608984164 | GJB2 | c.363del (p.Thr123ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189219G>A | CA483154004 | GJB2 | c.363C>T (p.Ile121=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189219G>C | CA387461300 | GJB2 | c.363C>G (p.Ile121Met) | gnomAD v4 |
| 13 | g.20189219G= | CA2077139419 | GJB2 | c.363C= (p.Ile121=) | |
| 13 | g.20189219G>T | CA483154005 | GJB2 | c.363C>A (p.Ile121=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189222_20189230del | CA2695217673 | GJB2 | c.355_363del (p.Glu119_Ile121del) | |
| 13 | g.20189220A= | CA2077139423 | GJB2 | c.362T= (p.Ile121=) | |
| 13 | g.20189220A>C | CA387461301 | GJB2 | c.362T>G (p.Ile121Ser) | |
| 13 | g.20189220A>G | CA387461302 | GJB2 | c.362T>C (p.Ile121Thr) | ClinVar dbSNP |
| 13 | g.20189220A>T | CA387461303 | GJB2 | c.362T>A (p.Ile121Asn) | |
| 13 | g.20189221T>A | CA387461305 | GJB2 | c.361A>T (p.Ile121Phe) | |
| 13 | g.20189221T>C | CA387461306 | GJB2 | c.361A>G (p.Ile121Val) | dbSNP gnomAD v4 |
| 13 | g.20189221T>G | CA387461304 | GJB2 | c.361A>C (p.Ile121Leu) | dbSNP |
| 13 | g.20189221T= | CA2077139429 | GJB2 | c.361A= (p.Ile121=) | |
| 13 | g.20189221_20189224delinsTCTC | CA2077139427 | GJB2 | c.358_361delinsGAGA (p.Glu120=) | |
| 13 | g.20189222del | CA2695217674 | GJB2 | c.360del (p.Ile121SerfsTer?) | |
| 13 | g.20189222C>A | CA387461307 | GJB2 | c.360G>T (p.Glu120Asp) | |
| 13 | g.20189222C>G | CA387461308 | GJB2 | c.360G>C (p.Glu120Asp) | |
| 13 | g.20189222C>T | CA483154006 | GJB2 | c.360G>A (p.Glu120=) | |
| 13 | g.20189225_20189227del | CA172226 | GJB2 | c.358_360del (p.Glu120del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189223T>A | CA387461309 | GJB2 | c.359A>T (p.Glu120Val) | |
| 13 | g.20189223T>C | CA387461310 | GJB2 | c.359A>G (p.Glu120Gly) | |
| 13 | g.20189223T>G | CA387461311 | GJB2 | c.359A>C (p.Glu120Ala) | |
| 13 | g.20189224C>A | CA387461312 | GJB2 | c.358G>T (p.Glu120Ter) | |
| 13 | g.20189224C= | CA2077139436 | GJB2 | c.358G= (p.Glu120=) | |
| 13 | g.20189224C>G | CA387461313 | GJB2 | c.358G>C (p.Glu120Gln) | |
| 13 | g.20189224C>T | CA6904276 | GJB2 | c.358G>A (p.Glu120Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189224_20189226delinsCCT | CA2077139438 | GJB2 | c.356_358delinsAGG (p.Glu119=) | |
| 13 | g.20189225C>A | CA387461314 | GJB2 | c.357G>T (p.Glu119Asp) | |
| 13 | g.20189225C>G | CA387461315 | GJB2 | c.357G>C (p.Glu119Asp) | |
| 13 | g.20189225C>T | CA483154007 | GJB2 | c.357G>A (p.Glu119=) | COSMIC |
| 13 | g.20189226_20189227del | CA2077139441 | GJB2 | c.356_357del (p.Glu119GlyfsTer?) | dbSNP |
| 13 | g.20189226T>A | CA387461316 | GJB2 | c.356A>T (p.Glu119Val) | |
| 13 | g.20189226T>C | CA387461317 | GJB2 | c.356A>G (p.Glu119Gly) | |
| 13 | g.20189226T>G | CA387461318 | GJB2 | c.356A>C (p.Glu119Ala) | |
| 13 | g.20189227_20189230dup | CA2695217675 | GJB2 | c.353_356dup (p.Glu119AspfsTer?) | ClinVar |
| 13 | g.20189227C>A | CA387461319 | GJB2 | c.355G>T (p.Glu119Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189227C= | CA2077139448 | GJB2 | c.355G= (p.Glu119=) | |
| 13 | g.20189227C>G | CA387461320 | GJB2 | c.355G>C (p.Glu119Gln) | |
| 13 | g.20189227C>T | CA273833 | GJB2 | c.355G>A (p.Glu119Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189228G>A | CA483154008 | GJB2 | c.354C>T (p.Ile118=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189228G>C | CA387461321 | GJB2 | c.354C>G (p.Ile118Met) | gnomAD v4 |
| 13 | g.20189228G= | CA2077139451 | GJB2 | c.354C= (p.Ile118=) | |
| 13 | g.20189228G>T | CA483154009 | GJB2 | c.354C>A (p.Ile118=) | |
| 13 | g.20189229A= | CA2077139452 | GJB2 | c.353T= (p.Ile118=) | |
| 13 | g.20189229A>C | CA387461322 | GJB2 | c.353T>G (p.Ile118Ser) | |
| 13 | g.20189229A>G | CA6904277 | GJB2 | c.353T>C (p.Ile118Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189229A>T | CA387461323 | GJB2 | c.353T>A (p.Ile118Asn) | |
| 13 | g.20189230T>A | CA387461324 | GJB2 | c.352A>T (p.Ile118Phe) | |
| 13 | g.20189230T>C | CA387461325 | GJB2 | c.352A>G (p.Ile118Val) | gnomAD v4 |
| 13 | g.20189230T>G | CA387461326 | GJB2 | c.352A>C (p.Ile118Leu) | |
| 13 | g.20189231G>A | CA483154010 | GJB2 | c.351C>T (p.Asp117=) | ClinVar |
| 13 | g.20189231G>C | CA387461327 | GJB2 | c.351C>G (p.Asp117Glu) | |
| 13 | g.20189231G>T | CA387461328 | GJB2 | c.351C>A (p.Asp117Glu) | |
| 13 | g.20189232T>A | CA6904278 | GJB2 | c.350A>T (p.Asp117Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189232T>C | CA134962 | GJB2 | c.350A>G (p.Asp117Gly) | ClinVar dbSNP |
| 13 | g.20189232T>G | CA387461329 | GJB2 | c.350A>C (p.Asp117Ala) | |
| 13 | g.20189232T= | CA2077139453 | GJB2 | c.350A= (p.Asp117=) | |
| 13 | g.20189233C>A | CA387461330 | GJB2 | c.349G>T (p.Asp117Tyr) | ClinVar dbSNP |
| 13 | g.20189233C>G | CA387461332 | GJB2 | c.349G>C (p.Asp117His) | |
| 13 | g.20189233C>T | CA387461331 | GJB2 | c.349G>A (p.Asp117Asn) | |
| 13 | g.20189234C>A | CA387461333 | GJB2 | c.348G>T (p.Lys116Asn) | |
| 13 | g.20189234C>G | CA387461334 | GJB2 | c.348G>C (p.Lys116Asn) | |
| 13 | g.20189234C>T | CA483154011 | GJB2 | c.348G>A (p.Lys116=) | |
| 13 | g.20189235T>A | CA387461335 | GJB2 | c.347A>T (p.Lys116Met) | |
| 13 | g.20189235T>C | CA387461336 | GJB2 | c.347A>G (p.Lys116Arg) | |
| 13 | g.20189235T>G | CA387461337 | GJB2 | c.347A>C (p.Lys116Thr) | |
| 13 | g.20189236T>A | CA387461338 | GJB2 | c.346A>T (p.Lys116Ter) | |
| 13 | g.20189236T>C | CA387461339 | GJB2 | c.346A>G (p.Lys116Glu) | dbSNP |
| 13 | g.20189236T>G | CA387461340 | GJB2 | c.346A>C (p.Lys116Gln) | |
| 13 | g.20189236T= | CA2077139454 | GJB2 | c.346A= (p.Lys116=) | |
| 13 | g.20189237A= | CA2077139455 | GJB2 | c.345T= (p.Phe115=) | |
| 13 | g.20189237A>C | CA387461341 | GJB2 | c.345T>G (p.Phe115Leu) | dbSNP gnomAD v4 |
| 13 | g.20189237A>G | CA483154012 | GJB2 | c.345T>C (p.Phe115=) | |
| 13 | g.20189237A>T | CA387461342 | GJB2 | c.345T>A (p.Phe115Leu) | |
| 13 | g.20189239dup | CA2695217676 | GJB2 | c.345dup (p.Lys116Ter) | ClinVar |
| 13 | g.20189238A= | CA2077139456 | GJB2 | c.344T= (p.Phe115=) | |
| 13 | g.20189238A>C | CA387461343 | GJB2 | c.344T>G (p.Phe115Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189238A>G | CA387461344 | GJB2 | c.344T>C (p.Phe115Ser) | |
| 13 | g.20189238A>T | CA387461345 | GJB2 | c.344T>A (p.Phe115Tyr) | |
| 13 | g.20189239A= | CA2077139459 | GJB2 | c.343T= (p.Phe115=) | |
| 13 | g.20189239A>C | CA387461348 | GJB2 | c.343T>G (p.Phe115Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189239A>G | CA387461346 | GJB2 | c.343T>C (p.Phe115Leu) | |
| 13 | g.20189239A>T | CA387461347 | GJB2 | c.343T>A (p.Phe115Ile) | |
| 13 | g.20189240T>A | CA387461349 | GJB2 | c.342A>T (p.Glu114Asp) | |
| 13 | g.20189240T>C | CA483154013 | GJB2 | c.342A>G (p.Glu114=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189240T>G | CA387461350 | GJB2 | c.342A>C (p.Glu114Asp) | dbSNP |
| 13 | g.20189240T= | CA2077139461 | GJB2 | c.342A= (p.Glu114=) | |
| 13 | g.20189240_20189241delinsTT | CA2077139462 | GJB2 | c.341_342delinsAA (p.Glu114=) | |
| 13 | g.20189241dup | CA912980094 | GJB2 | c.342dup (p.Phe115IlefsTer2) | |
| 13 | g.20189241T>A | CA387461351 | GJB2 | c.341A>T (p.Glu114Val) | |
| 13 | g.20189241T>C | CA134960 | GJB2 | c.341A>G (p.Glu114Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.[20189241T>C;20189503C>T] | CA354398 | GJB2 | c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly]) | ClinVar |
| 13 | g.20189241T>G | CA387461352 | GJB2 | c.341A>C (p.Glu114Ala) | |
| 13 | g.20189241T= | CA2077139464 | GJB2 | c.341A= (p.Glu114=) | |
| 13 | g.20189241delinsAG | CA919221226 | GJB2 | c.341delinsCT (p.Glu114AlafsTer3) | dbSNP |
| 13 | g.20189243_20189246dup | CA608984165 | GJB2 | c.338_341dup (p.Phe115Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189242C>A | CA387461353 | GJB2 | c.340G>T (p.Glu114Ter) | |
| 13 | g.20189242C= | CA2077139466 | GJB2 | c.340G= (p.Glu114=) | |
| 13 | g.20189242C>G | CA387461354 | GJB2 | c.340G>C (p.Glu114Gln) | |
| 13 | g.20189242C>T | CA6904279 | GJB2 | c.340G>A (p.Glu114Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189243A= | CA2077139470 | GJB2 | c.339T= (p.Ser113=) | |
| 13 | g.20189243A>C | CA342004 | GJB2 | c.339T>G (p.Ser113Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189243A>G | CA483154014 | GJB2 | c.339T>C (p.Ser113=) | |
| 13 | g.20189243A>T | CA387461355 | GJB2 | c.339T>A (p.Ser113Arg) | |
| 13 | g.20189244C>A | CA387461356 | GJB2 | c.338G>T (p.Ser113Ile) | |
| 13 | g.20189244C>G | CA387461357 | GJB2 | c.338G>C (p.Ser113Thr) | |
| 13 | g.20189244C>T | CA387461358 | GJB2 | c.338G>A (p.Ser113Asn) | |
| 13 | g.20189245T>A | CA387461360 | GJB2 | c.337A>T (p.Ser113Cys) | |
| 13 | g.20189245T>C | CA387461361 | GJB2 | c.337A>G (p.Ser113Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189245T>G | CA387461359 | GJB2 | c.337A>C (p.Ser113Arg) | |
| 13 | g.20189245T= | CA2077139475 | GJB2 | c.337A= (p.Ser113=) | |
| 13 | g.20189246_20189249del | CA2575364820 | GJB2 | c.334_337del (p.Lys112ValfsTer?) | |
| 13 | g.20189246C>A | CA387461362 | GJB2 | c.336G>T (p.Lys112Asn) | dbSNP |
| 13 | g.20189246C= | CA2077139479 | GJB2 | c.336G= (p.Lys112=) | |
| 13 | g.20189246C>G | CA387461363 | GJB2 | c.336G>C (p.Lys112Asn) | |
| 13 | g.20189246C>T | CA483154015 | GJB2 | c.336G>A (p.Lys112=) | dbSNP |
| 13 | g.20189246_20189248delinsCTT | CA2077139478 | GJB2 | c.334_336delinsAAG (p.Lys112=) | |
| 13 | g.20189247T>A | CA387461364 | GJB2 | c.335A>T (p.Lys112Met) | |
| 13 | g.20189247T>C | CA387461365 | GJB2 | c.335A>G (p.Lys112Arg) | |
| 13 | g.20189247T>G | CA387461366 | GJB2 | c.335A>C (p.Lys112Thr) | |
| 13 | g.20189248_20189249del | CA274322 | GJB2 | c.334_335del (p.Lys112GlufsTer2) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189248T>A | CA387461367 | GJB2 | c.334A>T (p.Lys112Ter) | |
| 13 | g.20189248T>C | CA387461368 | GJB2 | c.334A>G (p.Lys112Glu) | |
| 13 | g.20189248T>G | CA387461369 | GJB2 | c.334A>C (p.Lys112Gln) | |
| 13 | g.20189249T>A | CA483154016 | GJB2 | c.333A>T (p.Ile111=) | |
| 13 | g.20189249T>C | CA387461370 | GJB2 | c.333A>G (p.Ile111Met) | gnomAD v4 |
| 13 | g.20189249T>G | CA483154017 | GJB2 | c.333A>C (p.Ile111=) | |
| 13 | g.20189250A= | CA2077139482 | GJB2 | c.332T= (p.Ile111=) | |
| 13 | g.20189250A>C | CA387461371 | GJB2 | c.332T>G (p.Ile111Arg) | |
| 13 | g.20189250A>G | CA387461372 | GJB2 | c.332T>C (p.Ile111Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189250A>T | CA387461373 | GJB2 | c.332T>A (p.Ile111Lys) | |
| 13 | g.20189251T>A | CA387461374 | GJB2 | c.331A>T (p.Ile111Leu) | |
| 13 | g.20189251T>C | CA246460323 | GJB2 | c.331A>G (p.Ile111Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189251T>G | CA387461375 | GJB2 | c.331A>C (p.Ile111Leu) | |
| 13 | g.20189251T= | CA2077139486 | GJB2 | c.331A= (p.Ile111=) | |
| 13 | g.20189252C>A | CA387461376 | GJB2 | c.330G>T (p.Glu110Asp) | |
| 13 | g.20189252C>G | CA387461377 | GJB2 | c.330G>C (p.Glu110Asp) | |
| 13 | g.20189252C>T | CA483153736 | GJB2 | c.330G>A (p.Glu110=) | ClinVar |
| 13 | g.20189252_20189268delinsCTCCCCCTTGATGAACT | CA2077139491 | GJB2 | c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=) | |
| 13 | g.20189253del | CA2695217677 | GJB2 | c.329del (p.Glu110GlyfsTer2) | |
| 13 | g.20189253T>A | CA387461378 | GJB2 | c.329A>T (p.Glu110Val) | |
| 13 | g.20189253T>C | CA387461379 | GJB2 | c.329A>G (p.Glu110Gly) | gnomAD v4 |
| 13 | g.20189253T>G | CA387461380 | GJB2 | c.329A>C (p.Glu110Ala) | |
| 13 | g.20189253_20189255delinsTCC | CA2077139497 | GJB2 | c.327_329delinsGGA (p.Gly109=) | |
| 13 | g.20189256_20189271del | CA277273 | GJB2 | c.314_329del (p.Lys105ArgfsTer2) | ClinVar dbSNP |
| 13 | g.20189254C>A | CA6904280 | GJB2 | c.328G>T (p.Glu110Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189254C= | CA2077139502 | GJB2 | c.328G= (p.Glu110=) | |
| 13 | g.20189254C>G | CA387461381 | GJB2 | c.328G>C (p.Glu110Gln) | |
| 13 | g.20189254C>T | CA387461382 | GJB2 | c.328G>A (p.Glu110Lys) | |
| 13 | g.20189254_20189255delinsT | CA658823452 | GJB2 | c.327_328delinsA (p.Glu110ArgfsTer2) | ClinVar dbSNP |
| 13 | g.20189258dup | CA2798416346 | GJB2 | c.328dup (p.Glu110GlyfsTer5) | |
| 13 | g.20189258del | CA2580086790 | GJB2 | c.328del (p.Glu110ArgfsTer2) | ClinVar gnomAD v4 |
| 13 | g.20189257_20189258del | CA2695217678 | GJB2 | c.327_328del (p.Glu110AspfsTer4) | |
| 13 | g.20189255C>A | CA246460332 | GJB2 | c.327G>T (p.Gly109=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189255C= | CA2077139508 | GJB2 | c.327G= (p.Gly109=) | |
| 13 | g.20189255C>G | CA483153737 | GJB2 | c.327G>C (p.Gly109=) | |
| 13 | g.20189255C>T | CA246460335 | GJB2 | c.327G>A (p.Gly109=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189255_20189268del | CA2695217679 | GJB2 | c.314_327del (p.Lys105ArgfsTer5) | |
| 13 | g.20189255_20189269delinsCCCCTTGATGAACTT | CA2077139507 | GJB2 | c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=) | |
| 13 | g.20189256C>A | CA387461383 | GJB2 | c.326G>T (p.Gly109Val) | ClinVar dbSNP |
| 13 | g.20189256C= | CA2077139513 | GJB2 | c.326G= (p.Gly109=) | |
| 13 | g.20189256C>G | CA387461384 | GJB2 | c.326G>C (p.Gly109Ala) | |
| 13 | g.20189256C>T | CA6904281 | GJB2 | c.326G>A (p.Gly109Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189258_20189271del | CA172223 | GJB2 | c.313_326del (p.Lys105GlyfsTer5) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189257C>A | CA387461386 | GJB2 | c.325G>T (p.Gly109Trp) | dbSNP |
| 13 | g.20189257C= | CA2077139516 | GJB2 | c.325G= (p.Gly109=) | |
| 13 | g.20189257C>G | CA246460357 | GJB2 | c.325G>C (p.Gly109Arg) | dbSNP |
| 13 | g.20189257C>T | CA387461385 | GJB2 | c.325G>A (p.Gly109Arg) | COSMIC |
| 13 | g.20189258C>A | CA387461387 | GJB2 | c.324G>T (p.Lys108Asn) | |
| 13 | g.20189258C= | CA2077139518 | GJB2 | c.324G= (p.Lys108=) | |
| 13 | g.20189258C>G | CA387461388 | GJB2 | c.324G>C (p.Lys108Asn) | |
| 13 | g.20189258C>T | CA483153738 | GJB2 | c.324G>A (p.Lys108=) | ClinVar dbSNP |
| 13 | g.20189259T>A | CA387461389 | GJB2 | c.323A>T (p.Lys108Met) | |
| 13 | g.20189259T>C | CA387461390 | GJB2 | c.323A>G (p.Lys108Arg) | |
| 13 | g.20189259T>G | CA387461391 | GJB2 | c.323A>C (p.Lys108Thr) | dbSNP gnomAD v4 |
| 13 | g.20189259T= | CA2077139524 | GJB2 | c.323A= (p.Lys108=) | |
| 13 | g.20189259_20189272del | CA2695217680 | GJB2 | c.310_323del (p.Arg104GlyfsTer6) | |
| 13 | g.20189260T>A | CA387461392 | GJB2 | c.322A>T (p.Lys108Ter) | |
| 13 | g.20189260T>C | CA387461393 | GJB2 | c.322A>G (p.Lys108Glu) | ClinVar dbSNP |
| 13 | g.20189260T>G | CA387461394 | GJB2 | c.322A>C (p.Lys108Gln) | |
| 13 | g.20189260T= | CA2077139528 | GJB2 | c.322A= (p.Lys108=) | |
| 13 | g.20189261G>A | CA246460358 | GJB2 | c.321C>T (p.Ile107=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189261G>C | CA387461395 | GJB2 | c.321C>G (p.Ile107Met) | COSMIC |
| 13 | g.20189261G= | CA2077139534 | GJB2 | c.321C= (p.Ile107=) | |
| 13 | g.20189261G>T | CA483153739 | GJB2 | c.321C>A (p.Ile107=) | |
| 13 | g.20189262A>C | CA387461396 | GJB2 | c.320T>G (p.Ile107Ser) | |
| 13 | g.20189262A>G | CA387461397 | GJB2 | c.320T>C (p.Ile107Thr) | |
| 13 | g.20189262A>T | CA387461398 | GJB2 | c.320T>A (p.Ile107Asn) | |
| 13 | g.20189263T>A | CA387461400 | GJB2 | c.319A>T (p.Ile107Phe) | |
| 13 | g.20189263T>C | CA246460359 | GJB2 | c.319A>G (p.Ile107Val) | dbSNP |
| 13 | g.20189263T>G | CA387461399 | GJB2 | c.319A>C (p.Ile107Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189263T= | CA2077139538 | GJB2 | c.319A= (p.Ile107=) | |
| 13 | g.20189264G>A | CA483153740 | GJB2 | c.318C>T (p.Phe106=) | ClinVar gnomAD v4 |
| 13 | g.20189264G>C | CA387461401 | GJB2 | c.318C>G (p.Phe106Leu) | |
| 13 | g.20189264G= | CA2077139544 | GJB2 | c.318C= (p.Phe106=) | |
| 13 | g.20189264G>T | CA6904282 | GJB2 | c.318C>A (p.Phe106Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189265A= | CA2077139547 | GJB2 | c.317T= (p.Phe106=) | |
| 13 | g.20189265A>C | CA387461402 | GJB2 | c.317T>G (p.Phe106Cys) | |
| 13 | g.20189265A>G | CA387461403 | GJB2 | c.317T>C (p.Phe106Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189265A>T | CA387461404 | GJB2 | c.317T>A (p.Phe106Tyr) | |
| 13 | g.20189266A>C | CA387461405 | GJB2 | c.316T>G (p.Phe106Val) | |
| 13 | g.20189266A>G | CA387461406 | GJB2 | c.316T>C (p.Phe106Leu) | gnomAD v4 |
| 13 | g.20189266A>T | CA387461407 | GJB2 | c.316T>A (p.Phe106Ile) | |
| 13 | g.20189266_20189279del | CA2695217681 | GJB2 | c.303_316del (p.Glu101AspfsTer9) | |
| 13 | g.20189267C>A | CA387461408 | GJB2 | c.315G>T (p.Lys105Asn) | gnomAD v4 |
| 13 | g.20189267C>G | CA387461409 | GJB2 | c.315G>C (p.Lys105Asn) | |
| 13 | g.20189267C>T | CA483153741 | GJB2 | c.315G>A (p.Lys105=) | |
| 13 | g.20189268T>A | CA387461410 | GJB2 | c.314A>T (p.Lys105Met) | |
| 13 | g.20189268T>C | CA387461411 | GJB2 | c.314A>G (p.Lys105Arg) | |
| 13 | g.20189268T>G | CA387461412 | GJB2 | c.314A>C (p.Lys105Thr) | |
| 13 | g.20189268_20189269del | CA2695217683 | GJB2 | c.313_314del (p.Lys105ValfsTer9) | |
| 13 | g.20189269del | CA2695217682 | GJB2 | c.314del (p.Lys105SerfsTer7) | |
| 13 | g.20189269T>A | CA387461415 | GJB2 | c.313A>T (p.Lys105Ter) | |
| 13 | g.20189269T>C | CA387461414 | GJB2 | c.313A>G (p.Lys105Glu) | |
| 13 | g.20189269T>G | CA387461413 | GJB2 | c.313A>C (p.Lys105Gln) | |
| 13 | g.20189270C>A | CA6904283 | GJB2 | c.312G>T (p.Arg104Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189270C= | CA2077139553 | GJB2 | c.312G= (p.Arg104=) | |
| 13 | g.20189270C>G | CA387461416 | GJB2 | c.312G>C (p.Arg104Ser) | |
| 13 | g.20189270C>T | CA246460386 | GJB2 | c.312G>A (p.Arg104=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.20189271C>A | CA387461417 | GJB2 | c.311G>T (p.Arg104Met) | |
| 13 | g.20189271C>G | CA387461418 | GJB2 | c.311G>C (p.Arg104Thr) | gnomAD v4 |
| 13 | g.20189271C>T | CA387461419 | GJB2 | c.311G>A (p.Arg104Lys) | gnomAD v4 |
| 13 | g.20189271_20189274delinsCTCT | CA2077139558 | GJB2 | c.308_311delinsAGAG (p.Lys103=) | |
| 13 | g.20189272T>A | CA387461420 | GJB2 | c.310A>T (p.Arg104Trp) | |
| 13 | g.20189272T>C | CA387461421 | GJB2 | c.310A>G (p.Arg104Gly) | gnomAD v4 |
| 13 | g.20189272T>G | CA483153742 | GJB2 | c.310A>C (p.Arg104=) | ClinVar dbSNP |
| 13 | g.20189272T= | CA2077139564 | GJB2 | c.310A= (p.Arg104=) | |
| 13 | g.20189278_20189280del | CA645587645 | GJB2 | c.308_310del (p.Lys103del) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.20189273C>A | CA387461422 | GJB2 | c.309G>T (p.Lys103Asn) | |
| 13 | g.20189273C= | CA2077139569 | GJB2 | c.309G= (p.Lys103=) | |
| 13 | g.20189273C>G | CA387461423 | GJB2 | c.309G>C (p.Lys103Asn) | |
| 13 | g.20189273C>T | CA483153743 | GJB2 | c.309G>A (p.Lys103=) | dbSNP gnomAD v4 |
| 13 | g.20189274T>A | CA246460392 | GJB2 | c.308A>T (p.Lys103Met) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189274T>C | CA387461424 | GJB2 | c.308A>G (p.Lys103Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189274T>G | CA387461425 | GJB2 | c.308A>C (p.Lys103Thr) | |
| 13 | g.20189274T= | CA2077139572 | GJB2 | c.308A= (p.Lys103=) | |
| 13 | g.20189275T>A | CA387461428 | GJB2 | c.307A>T (p.Lys103Ter) | |
| 13 | g.20189275T>C | CA387461427 | GJB2 | c.307A>G (p.Lys103Glu) | |
| 13 | g.20189275T>G | CA387461426 | GJB2 | c.307A>C (p.Lys103Gln) | |
| 13 | g.20189275T= | CA2077139579 | GJB2 | c.307A= (p.Lys103=) | |
| 13 | g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG | CA2077139585 | GJB2 | c.306_307insCAAGTGAGATCCACTCTTCAGA (p.Lys103GlnfsTer19) | dbSNP |
| 13 | g.20189276C>A | CA387461429 | GJB2 | c.306G>T (p.Lys102Asn) | |
| 13 | g.20189276C= | CA2077139588 | GJB2 | c.306G= (p.Lys102=) | |
| 13 | g.20189276C>G | CA6904285 | GJB2 | c.306G>C (p.Lys102Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189276C>T | CA6904284 | GJB2 | c.306G>A (p.Lys102=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189277T>A | CA387461430 | GJB2 | c.305A>T (p.Lys102Met) | |
| 13 | g.20189277T>C | CA387461431 | GJB2 | c.305A>G (p.Lys102Arg) | |
| 13 | g.20189277T>G | CA387461432 | GJB2 | c.305A>C (p.Lys102Thr) | |
| 13 | g.20189278T>A | CA387461433 | GJB2 | c.304A>T (p.Lys102Ter) | |
| 13 | g.20189278T>C | CA387461434 | GJB2 | c.304A>G (p.Lys102Glu) | gnomAD v4 |
| 13 | g.20189278T>G | CA387461435 | GJB2 | c.304A>C (p.Lys102Gln) | gnomAD v4 |
| 13 | g.20189278_20189281del | CA912980095 | GJB2 | c.301_304del (p.Glu101ArgfsTer10) | |
| 13 | g.20189278_20189281delinsTCTC | CA2077139597 | GJB2 | c.301_304delinsGAGA (p.Glu101=) | |
| 13 | g.20189279C>A | CA387461436 | GJB2 | c.303G>T (p.Glu101Asp) | |
| 13 | g.20189279C>G | CA387461437 | GJB2 | c.303G>C (p.Glu101Asp) | gnomAD v4 |
| 13 | g.20189279C>T | CA483153744 | GJB2 | c.303G>A (p.Glu101=) | ClinVar |
| 13 | g.20189279_20189281del | CA658823458 | GJB2 | c.301_303del (p.Glu101del) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189280T>A | CA387461440 | GJB2 | c.302A>T (p.Glu101Val) | |
| 13 | g.20189280T>C | CA387461439 | GJB2 | c.302A>G (p.Glu101Gly) | |
| 13 | g.20189280T>G | CA387461438 | GJB2 | c.302A>C (p.Glu101Ala) | |
| 13 | g.20189281C>A | CA387461443 | GJB2 | c.301G>T (p.Glu101Ter) | |
| 13 | g.20189281C>G | CA387461441 | GJB2 | c.301G>C (p.Glu101Gln) | |
| 13 | g.20189281C>T | CA387461442 | GJB2 | c.301G>A (p.Glu101Lys) | |
| 13 | g.20189281_20189283delinsCAT | CA2077139606 | GJB2 | c.299_301delinsATG (p.His100=) | |
| 13 | g.20189282A= | CA2077139615 | GJB2 | c.300T= (p.His100=) | |
| 13 | g.20189282A>C | CA387461444 | GJB2 | c.300T>G (p.His100Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189282A>G | CA483153745 | GJB2 | c.300T>C (p.His100=) | ClinVar dbSNP |
| 13 | g.20189282A>T | CA387461445 | GJB2 | c.300T>A (p.His100Gln) | gnomAD v4 |
| 13 | g.20189282_20189283del | CA261643 | GJB2 | c.299_300del (p.His100ArgfsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189283T>A | CA387461446 | GJB2 | c.299A>T (p.His100Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189283T>C | CA387461447 | GJB2 | c.299A>G (p.His100Arg) | |
| 13 | g.20189283T>G | CA387461448 | GJB2 | c.299A>C (p.His100Pro) | |
| 13 | g.20189283T= | CA2077139623 | GJB2 | c.299A= (p.His100=) | |
| 13 | g.20189283_20189284delinsTG | CA2077139622 | GJB2 | c.298_299delinsCA (p.His100=) | |
| 13 | g.20189284del | CA6904286 | GJB2 | c.298del (p.His100MetfsTer12) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189284G>A | CA172221 | GJB2 | c.298C>T (p.His100Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189284G>C | CA387461449 | GJB2 | c.298C>G (p.His100Asp) | |
| 13 | g.20189284G= | CA2077139632 | GJB2 | c.298C= (p.His100=) | |
| 13 | g.20189284G>T | CA387461450 | GJB2 | c.298C>A (p.His100Asn) | |
| 13 | g.20189286_20189292dup | CA2695217684 | GJB2 | c.292_298dup (p.His100ProfsTer4) | |
| 13 | g.20189285T>A | CA246460435 | GJB2 | c.297A>T (p.Arg99Ser) | dbSNP |
| 13 | g.20189285T>C | CA483153746 | GJB2 | c.297A>G (p.Arg99=) | gnomAD v4 |
| 13 | g.20189285T>G | CA387461451 | GJB2 | c.297A>C (p.Arg99Ser) | |
| 13 | g.20189285T= | CA2077139637 | GJB2 | c.297A= (p.Arg99=) | |
| 13 | g.20189287_20189288del | CA2695217685 | GJB2 | c.296_297del (p.Arg99ThrfsTer2) | |
| 13 | g.20189285_20189286insA | CA2077139640 | GJB2 | c.296_297insT (p.Arg99SerfsTer3) | dbSNP |
| 13 | g.20189286C>A | CA387461452 | GJB2 | c.296G>T (p.Arg99Ile) | |
| 13 | g.20189286C= | CA2077139642 | GJB2 | c.296G= (p.Arg99=) | |
| 13 | g.20189286C>G | CA387461453 | GJB2 | c.296G>C (p.Arg99Thr) | |
| 13 | g.20189286C>T | CA387461454 | GJB2 | c.296G>A (p.Arg99Lys) | dbSNP gnomAD v4 |
| 13 | g.20189287T>A | CA387461455 | GJB2 | c.295A>T (p.Arg99Ter) | |
| 13 | g.20189287T>C | CA387461456 | GJB2 | c.295A>G (p.Arg99Gly) | |
| 13 | g.20189287T>G | CA483153747 | GJB2 | c.295A>C (p.Arg99=) | |
| 13 | g.20189287_20189292delinsCGGG | CA2695217710 | GJB2 | c.290_295delinsCCCG (p.Tyr97SerfsTer4) | |
| 13 | g.20189288C>A | CA483153748 | GJB2 | c.294G>T (p.Arg98=) | |
| 13 | g.20189288C= | CA2077139645 | GJB2 | c.294G= (p.Arg98=) | |
| 13 | g.20189288C>G | CA483153749 | GJB2 | c.294G>C (p.Arg98=) | ClinVar dbSNP |
| 13 | g.20189288C>T | CA483153750 | GJB2 | c.294G>A (p.Arg98=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189289C>A | CA387461457 | GJB2 | c.293G>T (p.Arg98Leu) | |
| 13 | g.20189289C= | CA2077139651 | GJB2 | c.293G= (p.Arg98=) | |
| 13 | g.20189289C>G | CA387461458 | GJB2 | c.293G>C (p.Arg98Pro) | |
| 13 | g.20189289C>T | CA6904287 | GJB2 | c.293G>A (p.Arg98Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189290G>A | CA6904288 | GJB2 | c.292C>T (p.Arg98Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189290G>C | CA387461459 | GJB2 | c.292C>G (p.Arg98Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189290G= | CA2077139653 | GJB2 | c.292C= (p.Arg98=) | |
| 13 | g.20189290G>T | CA483153751 | GJB2 | c.292C>A (p.Arg98=) | |
| 13 | g.20189291G>A | CA6904289 | GJB2 | c.291C>T (p.Tyr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189291G>C | CA387461460 | GJB2 | c.291C>G (p.Tyr97Ter) | gnomAD v4 |
| 13 | g.20189291G= | CA2077139659 | GJB2 | c.291C= (p.Tyr97=) | |
| 13 | g.20189291G>T | CA387461461 | GJB2 | c.291C>A (p.Tyr97Ter) | |
| 13 | g.20189292T>A | CA387461464 | GJB2 | c.290A>T (p.Tyr97Phe) | |
| 13 | g.20189292T>C | CA387461462 | GJB2 | c.290A>G (p.Tyr97Cys) | |
| 13 | g.20189292T>G | CA387461463 | GJB2 | c.290A>C (p.Tyr97Ser) | |
| 13 | g.20189292dup | CA274000 | GJB2 | c.290dup (p.Tyr97Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189293A= | CA2077139661 | GJB2 | c.289T= (p.Tyr97=) | |
| 13 | g.20189293A>C | CA387461466 | GJB2 | c.289T>G (p.Tyr97Asp) | |
| 13 | g.20189293A>G | CA387461465 | GJB2 | c.289T>C (p.Tyr97His) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189293A>T | CA387461467 | GJB2 | c.289T>A (p.Tyr97Asn) | |
| 13 | g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAAT | CA2622252295 | GJB2 | c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT | gnomAD v4 |
| 13 | g.20189294G>A | CA6904290 | GJB2 | c.288C>T (p.Ala96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189294G>C | CA483153753 | GJB2 | c.288C>G (p.Ala96=) | |
| 13 | g.20189294G= | CA2077139663 | GJB2 | c.288C= (p.Ala96=) | |
| 13 | g.20189294G>T | CA483153752 | GJB2 | c.288C>A (p.Ala96=) | |
| 13 | g.20189295G>A | CA387461468 | GJB2 | c.287C>T (p.Ala96Val) | |
| 13 | g.20189295G>C | CA6904291 | GJB2 | c.287C>G (p.Ala96Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189295G= | CA2077139666 | GJB2 | c.287C= (p.Ala96=) | |
| 13 | g.20189295G>T | CA387461469 | GJB2 | c.287C>A (p.Ala96Asp) | |
| 13 | g.20189296C>A | CA387461470 | GJB2 | c.286G>T (p.Ala96Ser) | |
| 13 | g.20189296C>G | CA387461471 | GJB2 | c.286G>C (p.Ala96Pro) | |
| 13 | g.20189296C>T | CA387461472 | GJB2 | c.286G>A (p.Ala96Thr) | gnomAD v4 |
| 13 | g.20189297C>A | CA483153754 | GJB2 | c.285G>T (p.Val95=) | |
| 13 | g.20189297C= | CA2077139668 | GJB2 | c.285G= (p.Val95=) | |
| 13 | g.20189297C>G | CA483153756 | GJB2 | c.285G>C (p.Val95=) | |
| 13 | g.20189297C>T | CA483153755 | GJB2 | c.285G>A (p.Val95=) | |
| 13 | g.20189298A= | CA2077139671 | GJB2 | c.284T= (p.Val95=) | |
| 13 | g.20189298A>C | CA387461473 | GJB2 | c.284T>G (p.Val95Gly) | |
| 13 | g.20189298A>G | CA387461474 | GJB2 | c.284T>C (p.Val95Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189298A>T | CA387461475 | GJB2 | c.284T>A (p.Val95Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189298_20189302dup | CA10575531 | GJB2 | c.280_284dup (p.Ala96ThrfsTer18) | ClinVar dbSNP |
| 13 | g.20189299C>A | CA387461477 | GJB2 | c.283G>T (p.Val95Leu) | |
| 13 | g.20189299C= | CA2077139672 | GJB2 | c.283G= (p.Val95=) | |
| 13 | g.20189299C>G | CA387461476 | GJB2 | c.283G>C (p.Val95Leu) | |
| 13 | g.20189299C>T | CA172220 | GJB2 | c.283G>A (p.Val95Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189300G>A | CA6904292 | GJB2 | c.282C>T (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189300G>C | CA387461478 | GJB2 | c.282C>G (p.His94Gln) | dbSNP gnomAD v2 |
| 13 | g.20189300G= | CA2077139673 | GJB2 | c.282C= (p.His94=) | |
| 13 | g.20189300G>T | CA387461479 | GJB2 | c.282C>A (p.His94Gln) | |
| 13 | g.20189301T>A | CA134958 | GJB2 | c.281A>T (p.His94Leu) | ClinVar dbSNP COSMIC |
| 13 | g.20189301T>C | CA387461480 | GJB2 | c.281A>G (p.His94Arg) | |
| 13 | g.20189301T>G | CA387461481 | GJB2 | c.281A>C (p.His94Pro) | |
| 13 | g.20189301T= | CA2077139675 | GJB2 | c.281A= (p.His94=) | |
| 13 | g.20189302G>A | CA387461482 | GJB2 | c.280C>T (p.His94Tyr) | ClinVar dbSNP |
| 13 | g.20189302G>C | CA387461483 | GJB2 | c.280C>G (p.His94Asp) | |
| 13 | g.20189302G= | CA2077139677 | GJB2 | c.280C= (p.His94=) | |
| 13 | g.20189302G>T | CA387461484 | GJB2 | c.280C>A (p.His94Asn) |