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 |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223871_71223891dup | CA658659008 | GJB1 | c.164_184dup (p.Asn61_Ser62insThrLeuGlnProGlyCysAsn) | ClinVar dbSNP |
| X | g.71223884C>A | CA516821249 | GJB1 | c.177C>A (p.Gly59=) | |
| X | g.71223884C>G | CA516821251 | GJB1 | c.177C>G (p.Gly59=) | |
| X | g.71223884C>T | CA516821250 | GJB1 | c.177C>T (p.Gly59=) | |
| X | g.71223885T>A | CA413501292 | GJB1 | c.178T>A (p.Cys60Ser) | |
| X | g.71223885T>C | CA16616545 | GJB1 | c.178T>C (p.Cys60Arg) | ClinVar dbSNP |
| X | g.71223885T>G | CA413501295 | GJB1 | c.178T>G (p.Cys60Gly) | |
| X | g.71223885T= | CA2436388202 | GJB1 | c.178T= (p.Cys60=) | |
| X | g.71223886G>A | CA413501299 | GJB1 | c.179G>A (p.Cys60Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71223886G>C | CA413501301 | GJB1 | c.179G>C (p.Cys60Ser) | |
| X | g.71223886G= | CA2436388203 | GJB1 | c.179G= (p.Cys60=) | |
| X | g.71223886G>T | CA413501304 | GJB1 | c.179G>T (p.Cys60Phe) | ClinVar dbSNP |
| X | g.71223887C>A | CA413501307 | GJB1 | c.180C>A (p.Cys60Ter) | |
| X | g.71223887C>G | CA413501310 | GJB1 | c.180C>G (p.Cys60Trp) | |
| X | g.71223887C>T | CA516821254 | GJB1 | c.180C>T (p.Cys60=) | |
| X | g.71223888A>C | CA413501312 | GJB1 | c.181A>C (p.Asn61His) | |
| X | g.71223888A>G | CA413501315 | GJB1 | c.181A>G (p.Asn61Asp) | |
| X | g.71223888A>T | CA413501318 | GJB1 | c.181A>T (p.Asn61Tyr) | |
| X | g.71223889A= | CA2436388204 | GJB1 | c.182A= (p.Asn61=) | |
| X | g.71223889A>C | CA413501321 | GJB1 | c.182A>C (p.Asn61Thr) | |
| X | g.71223889A>G | CA413501322 | GJB1 | c.182A>G (p.Asn61Ser) | gnomAD v4 |
| X | g.71223889A>T | CA413501324 | GJB1 | c.182A>T (p.Asn61Ile) | |
| X | g.71223890C>A | CA413501326 | GJB1 | c.183C>A (p.Asn61Lys) | ClinVar dbSNP |
| X | g.71223890C= | CA2436388205 | GJB1 | c.183C= (p.Asn61=) | |
| X | g.71223890C>G | CA413501329 | GJB1 | c.183C>G (p.Asn61Lys) | ClinVar |
| X | g.71223890C>T | CA516821256 | GJB1 | c.183C>T (p.Asn61=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223890dup | CA658659009 | GJB1 | c.183dup (p.Ser62GlnfsTer5) | ClinVar dbSNP |
| X | g.71223891A>C | CA413501331 | GJB1 | c.184A>C (p.Ser62Arg) | ClinVar |
| X | g.71223891A>G | CA413501333 | GJB1 | c.184A>G (p.Ser62Gly) | |
| X | g.71223891A>T | CA413501335 | GJB1 | c.184A>T (p.Ser62Cys) | |
| X | g.71223892G>A | CA413501336 | GJB1 | c.185G>A (p.Ser62Asn) | |
| X | g.71223892G>C | CA413501337 | GJB1 | c.185G>C (p.Ser62Thr) | ClinVar |
| X | g.71223892G>T | CA413501339 | GJB1 | c.185G>T (p.Ser62Ile) | |
| X | g.71223893C>A | CA413501343 | GJB1 | c.186C>A (p.Ser62Arg) | ClinVar |
| X | g.71223893C= | CA2436388206 | GJB1 | c.186C= (p.Ser62=) | |
| X | g.71223893C>G | CA413501341 | GJB1 | c.186C>G (p.Ser62Arg) | ClinVar dbSNP |
| X | g.71223893C>T | CA516821260 | GJB1 | c.186C>T (p.Ser62=) | gnomAD v4 |
| X | g.71223894G>A | CA341598 | GJB1 | c.187G>A (p.Val63Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.71223894G>C | CA413501345 | GJB1 | c.187G>C (p.Val63Leu) | |
| X | g.71223894G= | CA2436388207 | GJB1 | c.187G= (p.Val63=) | |
| X | g.71223894G>T | CA413501347 | GJB1 | c.187G>T (p.Val63Phe) | ClinVar dbSNP |
| X | g.71223895T>A | CA413501349 | GJB1 | c.188T>A (p.Val63Asp) | |
| X | g.71223895T>C | CA413501350 | GJB1 | c.188T>C (p.Val63Ala) | |
| X | g.71223895T>G | CA413501352 | GJB1 | c.188T>G (p.Val63Gly) | |
| X | g.71223896T>A | CA516821261 | GJB1 | c.189T>A (p.Val63=) | |
| X | g.71223896T>C | CA516821263 | GJB1 | c.189T>C (p.Val63=) | |
| X | g.71223896T>G | CA516821265 | GJB1 | c.189T>G (p.Val63=) | |
| X | g.71223897T>A | CA413501354 | GJB1 | c.190T>A (p.Cys64Ser) | |
| X | g.71223897T>C | CA413501356 | GJB1 | c.190T>C (p.Cys64Arg) | dbSNP |
| X | g.71223897T>G | CA413501355 | GJB1 | c.190T>G (p.Cys64Gly) | |
| X | g.71223898G>A | CA413501358 | GJB1 | c.191G>A (p.Cys64Tyr) | ClinVar dbSNP |
| X | g.71223898G>C | CA413501360 | GJB1 | c.191G>C (p.Cys64Ser) | ClinVar dbSNP |
| X | g.71223898G= | CA2436388208 | GJB1 | c.191G= (p.Cys64=) | |
| X | g.71223898G>T | CA413501361 | GJB1 | c.191G>T (p.Cys64Phe) | ClinVar dbSNP |
| X | g.71223899C>A | CA413501363 | GJB1 | c.192C>A (p.Cys64Ter) | ClinVar |
| X | g.71223899C>G | CA413501364 | GJB1 | c.192C>G (p.Cys64Trp) | ClinVar dbSNP |
| X | g.71223899C>T | CA516821268 | GJB1 | c.192C>T (p.Cys64=) | |
| X | g.71223900T>A | CA413501366 | GJB1 | c.193T>A (p.Tyr65Asn) | |
| X | g.71223900T>C | CA413501368 | GJB1 | c.193T>C (p.Tyr65His) | ClinVar dbSNP |
| X | g.71223900T>G | CA413501370 | GJB1 | c.193T>G (p.Tyr65Asp) | |
| X | g.71223900T= | CA2436388209 | GJB1 | c.193T= (p.Tyr65=) | |
| X | g.71223901A= | CA2436388210 | GJB1 | c.194A= (p.Tyr65=) | |
| X | g.71223901A>C | CA413501371 | GJB1 | c.194A>C (p.Tyr65Ser) | ClinVar dbSNP |
| X | g.71223901A>G | CA255248 | GJB1 | c.194A>G (p.Tyr65Cys) | ClinVar dbSNP |
| X | g.71223901A>T | CA413501373 | GJB1 | c.194A>T (p.Tyr65Phe) | |
| X | g.71223902T>A | CA413501375 | GJB1 | c.195T>A (p.Tyr65Ter) | |
| X | g.71223902T>C | CA516821273 | GJB1 | c.195T>C (p.Tyr65=) | |
| X | g.71223902T>G | CA413501376 | GJB1 | c.195T>G (p.Tyr65Ter) | ClinVar dbSNP |
| X | g.71223902T= | CA2436388211 | GJB1 | c.195T= (p.Tyr65=) | |
| X | g.71223902_71223905delinsTGAC | CA2436388212 | GJB1 | c.195_198delinsTGAC (p.Tyr65=) | |
| X | g.71223903G>A | CA413501380 | GJB1 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP |
| X | g.71223903G>C | CA413501384 | GJB1 | c.196G>C (p.Asp66His) | |
| X | g.71223903G= | CA2436388213 | GJB1 | c.196G= (p.Asp66=) | |
| X | g.71223903G>T | CA413501382 | GJB1 | c.196G>T (p.Asp66Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71223903_71223905del | CA915951183 | GJB1 | c.196_198del (p.Asp66del) | ClinVar dbSNP |
| X | g.71223904A>C | CA413501386 | GJB1 | c.197A>C (p.Asp66Ala) | |
| X | g.71223904A>G | CA413501388 | GJB1 | c.197A>G (p.Asp66Gly) | ClinVar |
| X | g.71223904A>T | CA413501391 | GJB1 | c.197A>T (p.Asp66Val) | |
| X | g.71223905C>A | CA413501394 | GJB1 | c.198C>A (p.Asp66Glu) | COSMIC |
| X | g.71223905C>G | CA413501397 | GJB1 | c.198C>G (p.Asp66Glu) | ClinVar |
| X | g.71223905C>T | CA516821275 | GJB1 | c.198C>T (p.Asp66=) | ClinVar |
| X | g.71223906C>A | CA413501400 | GJB1 | c.199C>A (p.Gln67Lys) | |
| X | g.71223906C= | CA2436388214 | GJB1 | c.199C= (p.Gln67=) | |
| X | g.71223906C>G | CA413501401 | GJB1 | c.199C>G (p.Gln67Glu) | |
| X | g.71223906C>T | CA413501411 | GJB1 | c.199C>T (p.Gln67Ter) | ClinVar dbSNP |
| X | g.71223907A>C | CA413501416 | GJB1 | c.200A>C (p.Gln67Pro) | |
| X | g.71223907A>G | CA413501418 | GJB1 | c.200A>G (p.Gln67Arg) | |
| X | g.71223907A>T | CA413501419 | GJB1 | c.200A>T (p.Gln67Leu) | |
| X | g.71223908A= | CA2436388215 | GJB1 | c.201A= (p.Gln67=) | |
| X | g.71223908A>C | CA413501423 | GJB1 | c.201A>C (p.Gln67His) | dbSNP |
| X | g.71223908A>G | CA516821278 | GJB1 | c.201A>G (p.Gln67=) | ClinVar |
| X | g.71223908A>T | CA413501425 | GJB1 | c.201A>T (p.Gln67His) | |
| X | g.71223909T>A | CA413501428 | GJB1 | c.202T>A (p.Phe68Ile) | |
| X | g.71223909T>C | CA413501433 | GJB1 | c.202T>C (p.Phe68Leu) | |
| X | g.71223909T>G | CA413501430 | GJB1 | c.202T>G (p.Phe68Val) | |
| X | g.71223910T>A | CA413501437 | GJB1 | c.203T>A (p.Phe68Tyr) | |
| X | g.71223910T>C | CA413501440 | GJB1 | c.203T>C (p.Phe68Ser) | |
| X | g.71223910T>G | CA413501441 | GJB1 | c.203T>G (p.Phe68Cys) | |
| X | g.71223911C>A | CA413501450 | GJB1 | c.204C>A (p.Phe68Leu) | gnomAD v4 |
| X | g.71223911C= | CA2436388216 | GJB1 | c.204C= (p.Phe68=) | |
| X | g.71223911C>G | CA413501452 | GJB1 | c.204C>G (p.Phe68Leu) | |
| X | g.71223911C>T | CA516821283 | GJB1 | c.204C>T (p.Phe68=) | dbSNP gnomAD v4 |
| X | g.71223912T>A | CA413501454 | GJB1 | c.205T>A (p.Phe69Ile) | |
| X | g.71223912T>C | CA413501457 | GJB1 | c.205T>C (p.Phe69Leu) | ClinVar dbSNP |
| X | g.71223912T>G | CA413501460 | GJB1 | c.205T>G (p.Phe69Val) | |
| X | g.71223912T= | CA2436388217 | GJB1 | c.205T= (p.Phe69=) | |
| X | g.71223913T>A | CA413501462 | GJB1 | c.206T>A (p.Phe69Tyr) | |
| X | g.71223913T>C | CA413501464 | GJB1 | c.206T>C (p.Phe69Ser) | |
| X | g.71223913T>G | CA413501467 | GJB1 | c.206T>G (p.Phe69Cys) | ClinVar |
| X | g.71223913T= | CA2436388218 | GJB1 | c.206T= (p.Phe69=) | |
| X | g.71223914C>A | CA413501470 | GJB1 | c.207C>A (p.Phe69Leu) | |
| X | g.71223914C>G | CA413501472 | GJB1 | c.207C>G (p.Phe69Leu) | |
| X | g.71223914C>T | CA516821285 | GJB1 | c.207C>T (p.Phe69=) | |
| X | g.71223917dup | CA915951184 | GJB1 | c.210dup (p.Ile71HisfsTer?) | ClinVar dbSNP |
| X | g.71223915C>A | CA413501474 | GJB1 | c.208C>A (p.Pro70Thr) | |
| X | g.71223915C= | CA2436388219 | GJB1 | c.208C= (p.Pro70=) | |
| X | g.71223915C>G | CA10583953 | GJB1 | c.208C>G (p.Pro70Ala) | ClinVar dbSNP |
| X | g.71223915C>T | CA413501479 | GJB1 | c.208C>T (p.Pro70Ser) | ClinVar dbSNP |
| X | g.71223915_71223916delinsCC | CA2436388220 | GJB1 | c.208_209delinsCC (p.Pro70=) | |
| X | g.71223915_71223916delinsTT | CA915951185 | GJB1 | c.208_209delinsTT (p.Pro70Phe) | ClinVar dbSNP |
| X | g.71223916C>A | CA413501483 | GJB1 | c.209C>A (p.Pro70His) | |
| X | g.71223916C>G | CA413501485 | GJB1 | c.209C>G (p.Pro70Arg) | |
| X | g.71223916C>T | CA413501488 | GJB1 | c.209C>T (p.Pro70Leu) | |
| X | g.71223917C>A | CA516821288 | GJB1 | c.210C>A (p.Pro70=) | |
| X | g.71223917C>G | CA516821290 | GJB1 | c.210C>G (p.Pro70=) | |
| X | g.71223917C>T | CA516821291 | GJB1 | c.210C>T (p.Pro70=) | |
| X | g.71223918A= | CA2436388221 | GJB1 | c.211A= (p.Ile71=) | |
| X | g.71223918A>C | CA413501491 | GJB1 | c.211A>C (p.Ile71Leu) | |
| X | g.71223918A>G | CA413501493 | GJB1 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
| X | g.71223918A>T | CA413501496 | GJB1 | c.211A>T (p.Ile71Phe) | |
| X | g.71223919T>A | CA413501499 | GJB1 | c.212T>A (p.Ile71Asn) | ClinVar dbSNP |
| X | g.71223919T>C | CA413501501 | GJB1 | c.212T>C (p.Ile71Thr) | ClinVar |
| X | g.71223919T>G | CA413501504 | GJB1 | c.212T>G (p.Ile71Ser) | ClinVar dbSNP |
| X | g.71223919T= | CA2436388222 | GJB1 | c.212T= (p.Ile71=) | |
| X | g.71223920C>A | CA516821292 | GJB1 | c.213C>A (p.Ile71=) | |
| X | g.71223920C= | CA2436388223 | GJB1 | c.213C= (p.Ile71=) | |
| X | g.71223920C>G | CA413501507 | GJB1 | c.213C>G (p.Ile71Met) | |
| X | g.71223920C>T | CA516821294 | GJB1 | c.213C>T (p.Ile71=) | dbSNP |
| X | g.71223921T>A | CA413501515 | GJB1 | c.214T>A (p.Ser72Thr) | |
| X | g.71223921T>C | CA413501511 | GJB1 | c.214T>C (p.Ser72Pro) | |
| X | g.71223921T>G | CA413501512 | GJB1 | c.214T>G (p.Ser72Ala) | |
| X | g.71223921_71223922delinsTC | CA2436388224 | GJB1 | c.214_215delinsTC (p.Ser72=) | |
| X | g.71223922C>A | CA413501518 | GJB1 | c.215C>A (p.Ser72Tyr) | |
| X | g.71223922C= | CA2436388225 | GJB1 | c.215C= (p.Ser72=) | |
| X | g.71223922C>G | CA413501520 | GJB1 | c.215C>G (p.Ser72Cys) | ClinVar dbSNP |
| X | g.71223922C>T | CA413501523 | GJB1 | c.215C>T (p.Ser72Phe) | ClinVar dbSNP |
| X | g.71223924del | CA915951186 | GJB1 | c.217del (p.His73MetfsTer11) | ClinVar dbSNP |
| X | g.71223923C>A | CA516821297 | GJB1 | c.216C>A (p.Ser72=) | |
| X | g.71223923C= | CA2436388226 | GJB1 | c.216C= (p.Ser72=) | |
| X | g.71223923C>G | CA516821299 | GJB1 | c.216C>G (p.Ser72=) | ClinVar gnomAD v4 |
| X | g.71223923C>T | CA516821300 | GJB1 | c.216C>T (p.Ser72=) | ClinVar dbSNP gnomAD v4 |
| X | g.71223924C>A | CA413501529 | GJB1 | c.217C>A (p.His73Asn) | |
| X | g.71223924C>G | CA413501532 | GJB1 | c.217C>G (p.His73Asp) | |
| X | g.71223924C>T | CA413501534 | GJB1 | c.217C>T (p.His73Tyr) | |
| X | g.71223924_71223925insTTCTTCGCTTTC | CA10445279 | GJB1 | c.217_218insTTCTTCGCTTTC (p.Ser72_His73insLeuLeuArgPhe) | dbSNP ExAC |
| X | g.71223925A= | CA2436388227 | GJB1 | c.218A= (p.His73=) | |
| X | g.71223925A>C | CA413501538 | GJB1 | c.218A>C (p.His73Pro) | |
| X | g.71223925A>G | CA413501540 | GJB1 | c.218A>G (p.His73Arg) | ClinVar dbSNP |
| X | g.71223925A>T | CA10445280 | GJB1 | c.218A>T (p.His73Leu) | dbSNP ExAC gnomAD v2 |
| X | g.71223926T>A | CA413501544 | GJB1 | c.219T>A (p.His73Gln) | |
| X | g.71223926T>C | CA516821304 | GJB1 | c.219T>C (p.His73=) | |
| X | g.71223926T>G | CA413501546 | GJB1 | c.219T>G (p.His73Gln) | |
| X | g.71223927G>A | CA413501551 | GJB1 | c.220G>A (p.Val74Met) | ClinVar dbSNP |
| X | g.71223927G>C | CA10445281 | GJB1 | c.220G>C (p.Val74Leu) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223927G= | CA2436388228 | GJB1 | c.220G= (p.Val74=) | |
| X | g.71223927G>T | CA413501549 | GJB1 | c.220G>T (p.Val74Leu) | |
| X | g.71223928T>A | CA413501553 | GJB1 | c.221T>A (p.Val74Glu) | |
| X | g.71223928T>C | CA413501557 | GJB1 | c.221T>C (p.Val74Ala) | ClinVar dbSNP |
| X | g.71223928T>G | CA413501554 | GJB1 | c.221T>G (p.Val74Gly) | |
| X | g.71223928T= | CA2436388229 | GJB1 | c.221T= (p.Val74=) | |
| X | g.71223929G>A | CA10445283 | GJB1 | c.222G>A (p.Val74=) | dbSNP ExAC gnomAD v4 |
| X | g.71223929G>C | CA516821307 | GJB1 | c.222G>C (p.Val74=) | |
| X | g.71223929G= | CA2436388230 | GJB1 | c.222G= (p.Val74=) | |
| X | g.71223929G>T | CA10445282 | GJB1 | c.222G>T (p.Val74=) | dbSNP ExAC gnomAD v2 |
| X | g.71223930C>A | CA330997691 | GJB1 | c.223C>A (p.Arg75=) | dbSNP |
| X | g.71223930C= | CA2436388231 | GJB1 | c.223C= (p.Arg75=) | |
| X | g.71223930C>G | CA413501562 | GJB1 | c.223C>G (p.Arg75Gly) | |
| X | g.71223930C>T | CA341601 | GJB1 | c.223C>T (p.Arg75Trp) | ClinVar dbSNP gnomAD v4 |
| X | g.71223930_71223931delinsCG | CA2436388232 | GJB1 | c.223_224delinsCG (p.Arg75=) | |
| X | g.71223931G>A | CA279107 | GJB1 | c.224G>A (p.Arg75Gln) | ClinVar dbSNP |
| X | g.71223931G>C | CA413501574 | GJB1 | c.224G>C (p.Arg75Pro) | ClinVar dbSNP |
| X | g.71223931G= | CA2436388233 | GJB1 | c.224G= (p.Arg75=) | |
| X | g.71223931G>T | CA413501572 | GJB1 | c.224G>T (p.Arg75Leu) | |
| X | g.71223932del | CA341604 | GJB1 | c.225del (p.Leu76CysfsTer8) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223932G>A | CA516821313 | GJB1 | c.225G>A (p.Arg75=) | dbSNP |
| X | g.71223932G>C | CA516821315 | GJB1 | c.225G>C (p.Arg75=) | |
| X | g.71223932G= | CA2436388234 | GJB1 | c.225G= (p.Arg75=) | |
| X | g.71223932G>T | CA516821316 | GJB1 | c.225G>T (p.Arg75=) | |
| X | g.71223933C>A | CA413501576 | GJB1 | c.226C>A (p.Leu76Met) | gnomAD v4 |
| X | g.71223933C>G | CA413501578 | GJB1 | c.226C>G (p.Leu76Val) | |
| X | g.71223933C>T | CA516821317 | GJB1 | c.226C>T (p.Leu76=) | gnomAD v4 |
| X | g.71223934T>A | CA413501580 | GJB1 | c.227T>A (p.Leu76Gln) | |
| X | g.71223934T>C | CA413501582 | GJB1 | c.227T>C (p.Leu76Pro) | |
| X | g.71223934T>G | CA413501583 | GJB1 | c.227T>G (p.Leu76Arg) | ClinVar dbSNP |
| X | g.71223934T= | CA2436388235 | GJB1 | c.227T= (p.Leu76=) | |
| X | g.71223934dup | CA2697553166 | GJB1 | c.227dup (p.Trp77ValfsTer?) | ClinVar |
| X | g.71223935G>A | CA516821319 | GJB1 | c.228G>A (p.Leu76=) | ClinVar gnomAD v4 |
| X | g.71223935G>C | CA516821321 | GJB1 | c.228G>C (p.Leu76=) | |
| X | g.71223935G= | CA2436388236 | GJB1 | c.228G= (p.Leu76=) | |
| X | g.71223935G>T | CA10445284 | GJB1 | c.228G>T (p.Leu76=) | dbSNP ExAC |
| X | g.71223936T>A | CA413501586 | GJB1 | c.229T>A (p.Trp77Arg) | |
| X | g.71223936T>C | CA413501589 | GJB1 | c.229T>C (p.Trp77Arg) | |
| X | g.71223936T>G | CA413501588 | GJB1 | c.229T>G (p.Trp77Gly) | |
| X | g.71223937G>A | CA413501591 | GJB1 | c.230G>A (p.Trp77Ter) | |
| X | g.71223937G>C | CA330997697 | GJB1 | c.230G>C (p.Trp77Ser) | ClinVar dbSNP |
| X | g.71223937G= | CA2436388237 | GJB1 | c.230G= (p.Trp77=) | |
| X | g.71223937G>T | CA413501593 | GJB1 | c.230G>T (p.Trp77Leu) | ClinVar dbSNP |
| X | g.71223938G>A | CA10584636 | GJB1 | c.231G>A (p.Trp77Ter) | ClinVar dbSNP |
| X | g.71223938G>C | CA413501596 | GJB1 | c.231G>C (p.Trp77Cys) | |
| X | g.71223938G= | CA2436388238 | GJB1 | c.231G= (p.Trp77=) | |
| X | g.71223938G>T | CA413501597 | GJB1 | c.231G>T (p.Trp77Cys) | ClinVar |
| X | g.71223939T>A | CA413501599 | GJB1 | c.232T>A (p.Ser78Thr) | |
| X | g.71223939T>C | CA413501600 | GJB1 | c.232T>C (p.Ser78Pro) | |
| X | g.71223939T>G | CA413501602 | GJB1 | c.232T>G (p.Ser78Ala) | ClinVar dbSNP |
| X | g.71223939T= | CA2436388239 | GJB1 | c.232T= (p.Ser78=) | |
| X | g.71223940C>A | CA413501604 | GJB1 | c.233C>A (p.Ser78Tyr) | |
| X | g.71223940C= | CA2436388240 | GJB1 | c.233C= (p.Ser78=) | |
| X | g.71223940C>G | CA413501605 | GJB1 | c.233C>G (p.Ser78Cys) | |
| X | g.71223940C>T | CA413501606 | GJB1 | c.233C>T (p.Ser78Phe) | ClinVar dbSNP |
| X | g.71223942del | CA2499226843 | GJB1 | c.235del (p.Leu79CysfsTer5) | ClinVar dbSNP |
| X | g.71223941C>A | CA516821327 | GJB1 | c.234C>A (p.Ser78=) | |
| X | g.71223941C= | CA2436388241 | GJB1 | c.234C= (p.Ser78=) | |
| X | g.71223941C>G | CA516821329 | GJB1 | c.234C>G (p.Ser78=) | |
| X | g.71223941C>T | CA516821328 | GJB1 | c.234C>T (p.Ser78=) | ClinVar dbSNP |
| X | g.71223942C>A | CA413501607 | GJB1 | c.235C>A (p.Leu79Met) | |
| X | g.71223942C= | CA2436388242 | GJB1 | c.235C= (p.Leu79=) | |
| X | g.71223942C>G | CA413501609 | GJB1 | c.235C>G (p.Leu79Val) | |
| X | g.71223942C>T | CA350694 | GJB1 | c.235C>T (p.Leu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223943T>A | CA413501611 | GJB1 | c.236T>A (p.Leu79Gln) | |
| X | g.71223943T>C | CA413501613 | GJB1 | c.236T>C (p.Leu79Pro) | gnomAD v4 |
| X | g.71223943T>G | CA413501614 | GJB1 | c.236T>G (p.Leu79Arg) | |
| X | g.71223944G>A | CA516821330 | GJB1 | c.237G>A (p.Leu79=) | gnomAD v4 |
| X | g.71223944G>C | CA516821331 | GJB1 | c.237G>C (p.Leu79=) | |
| X | g.71223944G>T | CA516821332 | GJB1 | c.237G>T (p.Leu79=) | |
| X | g.71223945C>A | CA413501616 | GJB1 | c.238C>A (p.Gln80Lys) | ClinVar dbSNP |
| X | g.71223945C= | CA2436388243 | GJB1 | c.238C= (p.Gln80=) | |
| X | g.71223945C>G | CA413501618 | GJB1 | c.238C>G (p.Gln80Glu) | |
| X | g.71223945C>T | CA413501620 | GJB1 | c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
| X | g.71223946A= | CA2436388244 | GJB1 | c.239A= (p.Gln80=) | |
| X | g.71223946A>C | CA413501623 | GJB1 | c.239A>C (p.Gln80Pro) | |
| X | g.71223946A>G | CA10584637 | GJB1 | c.239A>G (p.Gln80Arg) | ClinVar dbSNP |
| X | g.71223946A>T | CA413501621 | GJB1 | c.239A>T (p.Gln80Leu) | |
| X | g.71223947G>A | CA516821333 | GJB1 | c.240G>A (p.Gln80=) | |
| X | g.71223947G>C | CA413501625 | GJB1 | c.240G>C (p.Gln80His) | |
| X | g.71223947G>T | CA413501626 | GJB1 | c.240G>T (p.Gln80His) | ClinVar |
| X | g.71223948C>A | CA413501628 | GJB1 | c.241C>A (p.Leu81Ile) | |
| X | g.71223948C= | CA2436388245 | GJB1 | c.241C= (p.Leu81=) | |
| X | g.71223948C>G | CA10577655 | GJB1 | c.241C>G (p.Leu81Val) | ClinVar dbSNP |
| X | g.71223948C>T | CA413501630 | GJB1 | c.241C>T (p.Leu81Phe) | ClinVar dbSNP |
| X | g.71223949T>A | CA413501632 | GJB1 | c.242T>A (p.Leu81His) | ClinVar dbSNP |
| X | g.71223949T>C | CA413501635 | GJB1 | c.242T>C (p.Leu81Pro) | |
| X | g.71223949T>G | CA413501633 | GJB1 | c.242T>G (p.Leu81Arg) | |
| X | g.71223949T= | CA2436388246 | GJB1 | c.242T= (p.Leu81=) | |
| X | g.71223950C>A | CA516821334 | GJB1 | c.243C>A (p.Leu81=) | |
| X | g.71223950C= | CA2436388247 | GJB1 | c.243C= (p.Leu81=) | |
| X | g.71223950C>G | CA516821335 | GJB1 | c.243C>G (p.Leu81=) | |
| X | g.71223950C>T | CA10445285 | GJB1 | c.243C>T (p.Leu81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223951A= | CA2436388248 | GJB1 | c.244A= (p.Ile82=) | |
| X | g.71223951A>C | CA413501638 | GJB1 | c.244A>C (p.Ile82Leu) | ClinVar |
| X | g.71223951A>G | CA413501639 | GJB1 | c.244A>G (p.Ile82Val) | ClinVar dbSNP |
| X | g.71223951A>T | CA413501640 | GJB1 | c.244A>T (p.Ile82Phe) | |
| X | g.71223952T>A | CA413501642 | GJB1 | c.245T>A (p.Ile82Asn) | ClinVar dbSNP |
| X | g.71223952T>C | CA413501643 | GJB1 | c.245T>C (p.Ile82Thr) | |
| X | g.71223952T>G | CA413501644 | GJB1 | c.245T>G (p.Ile82Ser) | |
| X | g.71223953C>A | CA516821336 | GJB1 | c.246C>A (p.Ile82=) | |
| X | g.71223953C= | CA2436388249 | GJB1 | c.246C= (p.Ile82=) | |
| X | g.71223953C>G | CA413501646 | GJB1 | c.246C>G (p.Ile82Met) | ClinVar dbSNP |
| X | g.71223953C>T | CA516821337 | GJB1 | c.246C>T (p.Ile82=) | |
| X | g.71223953_71223963delinsCCTAGTTTCCA | CA2436388250 | GJB1 | c.246_256delinsCCTAGTTTCCA (p.Ile82=) | |
| X | g.71223954C>A | CA413501647 | GJB1 | c.247C>A (p.Leu83Ile) | |
| X | g.71223954C>G | CA413501648 | GJB1 | c.247C>G (p.Leu83Val) | |
| X | g.71223954C>T | CA516821338 | GJB1 | c.247C>T (p.Leu83=) | gnomAD v4 |
| X | g.71223955_71223964del | CA915951187 | GJB1 | c.248_257del (p.Leu83ProfsTer16) | ClinVar dbSNP |
| X | g.71223955T>A | CA413501651 | GJB1 | c.248T>A (p.Leu83Gln) | |
| X | g.71223955T>C | CA413501654 | GJB1 | c.248T>C (p.Leu83Pro) | ClinVar dbSNP |
| X | g.71223955T>G | CA413501652 | GJB1 | c.248T>G (p.Leu83Arg) | ClinVar dbSNP |
| X | g.71223955T= | CA2436388251 | GJB1 | c.248T= (p.Leu83=) | |
| X | g.71223956A>C | CA516821339 | GJB1 | c.249A>C (p.Leu83=) | |
| X | g.71223956A>G | CA516821340 | GJB1 | c.249A>G (p.Leu83=) | |
| X | g.71223956A>T | CA516821341 | GJB1 | c.249A>T (p.Leu83=) | |
| X | g.71223957del | CA2573159495 | GJB1 | c.250del (p.Val84PhefsTer18) c.250del (p.Val84PhefsTer?) | ClinVar dbSNP |
| X | g.71223957G>A | CA413501655 | GJB1 | c.250G>A (p.Val84Ile) | ClinVar dbSNP |
| X | g.71223957G>C | CA413501657 | GJB1 | c.250G>C (p.Val84Leu) | |
| X | g.71223957G= | CA2436388252 | GJB1 | c.250G= (p.Val84=) | |
| X | g.71223957G>T | CA413501656 | GJB1 | c.250G>T (p.Val84Phe) | |
| X | g.71223958T>A | CA413501659 | GJB1 | c.251T>A (p.Val84Asp) | |
| X | g.71223958T>C | CA413501661 | GJB1 | c.251T>C (p.Val84Ala) | |
| X | g.71223958T>G | CA413501662 | GJB1 | c.251T>G (p.Val84Gly) | ClinVar dbSNP |
| X | g.71223958T= | CA2436388253 | GJB1 | c.251T= (p.Val84=) | |
| X | g.71223959T>A | CA516821342 | GJB1 | c.252T>A (p.Val84=) | |
| X | g.71223959T>C | CA516821343 | GJB1 | c.252T>C (p.Val84=) | |
| X | g.71223959T>G | CA516821344 | GJB1 | c.252T>G (p.Val84=) | |
| X | g.71223960T>A | CA413501664 | GJB1 | c.253T>A (p.Ser85Thr) c.253T>A | |
| X | g.71223960T>C | CA413501666 | GJB1 | c.253T>C (p.Ser85Pro) c.253T>C | |
| X | g.71223960T>G | CA413501667 | GJB1 | c.253T>G (p.Ser85Ala) c.253T>G | |
| X | g.71223961C>A | CA413501669 | GJB1 | c.254C>A (p.Ser85Tyr) | |
| X | g.71223961C= | CA2436388254 | GJB1 | c.254C= (p.Ser85=) | |
| X | g.71223961C>G | CA255257 | GJB1 | c.254C>G (p.Ser85Cys) | ClinVar dbSNP COSMIC |
| X | g.71223961C>T | CA413501671 | GJB1 | c.254C>T (p.Ser85Phe) | ClinVar dbSNP |
| X | g.71223964_71223968del | CA2695234561 | GJB1 | c.257_261del (p.Thr86SerfsTer22) | |
| X | g.71223962C>A | CA516821346 | GJB1 | c.255C>A (p.Ser85=) | |
| X | g.71223962C>G | CA516821347 | GJB1 | c.255C>G (p.Ser85=) | |
| X | g.71223962C>T | CA516821345 | GJB1 | c.255C>T (p.Ser85=) | |
| X | g.71223963A= | CA2436388255 | GJB1 | c.256A= (p.Thr86=) | |
| X | g.71223963A>C | CA413501676 | GJB1 | c.256A>C (p.Thr86Pro) | |
| X | g.71223963A>G | CA413501675 | GJB1 | c.256A>G (p.Thr86Ala) | ClinVar dbSNP |
| X | g.71223963A>T | CA413501673 | GJB1 | c.256A>T (p.Thr86Ser) | ClinVar dbSNP |
| X | g.71223964C>A | CA413501677 | GJB1 | c.257C>A (p.Thr86Asn) | ClinVar dbSNP |
| X | g.71223964C= | CA2436388256 | GJB1 | c.257C= (p.Thr86=) | |
| X | g.71223964C>G | CA413501679 | GJB1 | c.257C>G (p.Thr86Ser) | |
| X | g.71223964C>T | CA413501681 | GJB1 | c.257C>T (p.Thr86Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.71223965C>A | CA10445286 | GJB1 | c.258C>A (p.Thr86=) | dbSNP ExAC |
| X | g.71223965C= | CA2436388257 | GJB1 | c.258C= (p.Thr86=) | |
| X | g.71223965C>G | CA516821348 | GJB1 | c.258C>G (p.Thr86=) | |
| X | g.71223965C>T | CA516821349 | GJB1 | c.258C>T (p.Thr86=) | |
| X | g.71223966C>A | CA413501683 | GJB1 | c.259C>A (p.Pro87Thr) | |
| X | g.71223966C= | CA2436388258 | GJB1 | c.259C= (p.Pro87=) | |
| X | g.71223966C>G | CA270640 | GJB1 | c.259C>G (p.Pro87Ala) | ClinVar dbSNP |
| X | g.71223966C>T | CA413501685 | GJB1 | c.259C>T (p.Pro87Ser) | ClinVar dbSNP |
| X | g.71223967C>A | CA413501688 | GJB1 | c.260C>A (p.Pro87Gln) | |
| X | g.71223967C= | CA2436388259 | GJB1 | c.260C= (p.Pro87=) | |
| X | g.71223967C>G | CA413501689 | GJB1 | c.260C>G (p.Pro87Arg) | |
| X | g.71223967C>T | CA413501690 | GJB1 | c.260C>T (p.Pro87Leu) | ClinVar dbSNP |
| X | g.71223968A= | CA2436388260 | GJB1 | c.261A= (p.Pro87=) | |
| X | g.71223968A>C | CA516821350 | GJB1 | c.261A>C (p.Pro87=) | |
| X | g.71223968A>G | CA10445287 | GJB1 | c.261A>G (p.Pro87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223968A>T | CA516821351 | GJB1 | c.261A>T (p.Pro87=) | |
| X | g.71223969G>A | CA413501694 | GJB1 | c.262G>A (p.Ala88Thr) | |
| X | g.71223969G>C | CA413501696 | GJB1 | c.262G>C (p.Ala88Pro) | |
| X | g.71223969G>T | CA413501693 | GJB1 | c.262G>T (p.Ala88Ser) | |
| X | g.71223971_71223987del | CA2573159491 | GJB1 | c.264_280del (p.Leu89ArgfsTer15) | ClinVar dbSNP |
| X | g.71223970C>A | CA413501698 | GJB1 | c.263C>A (p.Ala88Asp) | |
| X | g.71223970C= | CA2436388261 | GJB1 | c.263C= (p.Ala88=) | |
| X | g.71223970C>G | CA413501700 | GJB1 | c.263C>G (p.Ala88Gly) | ClinVar dbSNP |
| X | g.71223970C>T | CA413501701 | GJB1 | c.263C>T (p.Ala88Val) | |
| X | g.71223971T>A | CA516821352 | GJB1 | c.264T>A (p.Ala88=) | |
| X | g.71223971T>C | CA516821353 | GJB1 | c.264T>C (p.Ala88=) | |
| X | g.71223971T>G | CA516821354 | GJB1 | c.264T>G (p.Ala88=) | |
| X | g.71223972C>A | CA413501702 | GJB1 | c.265C>A (p.Leu89Ile) | |
| X | g.71223972C= | CA2436388262 | GJB1 | c.265C= (p.Leu89=) | |
| X | g.71223972C>G | CA413501704 | GJB1 | c.265C>G (p.Leu89Val) | ClinVar dbSNP |
| X | g.71223972C>T | CA413501705 | GJB1 | c.265C>T (p.Leu89Phe) | |
| X | g.71223973T>A | CA413501707 | GJB1 | c.266T>A (p.Leu89His) | |
| X | g.71223973T>C | CA413501709 | GJB1 | c.266T>C (p.Leu89Pro) | ClinVar dbSNP |
| X | g.71223973T>G | CA413501710 | GJB1 | c.266T>G (p.Leu89Arg) | |
| X | g.71223973T= | CA2436388263 | GJB1 | c.266T= (p.Leu89=) | |
| X | g.71223974C>A | CA516821355 | GJB1 | c.267C>A (p.Leu89=) | |
| X | g.71223974C>G | CA516821356 | GJB1 | c.267C>G (p.Leu89=) | |
| X | g.71223974C>T | CA516821357 | GJB1 | c.267C>T (p.Leu89=) | |
| X | g.71223975C>A | CA413501712 | GJB1 | c.268C>A (p.Leu90Ile) | ClinVar dbSNP |
| X | g.71223975C= | CA2436388264 | GJB1 | c.268C= (p.Leu90=) | |
| X | g.71223975C>G | CA413501713 | GJB1 | c.268C>G (p.Leu90Val) | ClinVar dbSNP |
| X | g.71223975C>T | CA413501714 | GJB1 | c.268C>T (p.Leu90Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223976T>A | CA413501720 | GJB1 | c.269T>A (p.Leu90His) | ClinVar dbSNP |
| X | g.71223976T>C | CA413501716 | GJB1 | c.269T>C (p.Leu90Pro) | ClinVar dbSNP |
| X | g.71223976T>G | CA413501718 | GJB1 | c.269T>G (p.Leu90Arg) | ClinVar |
| X | g.71223976T= | CA2436388265 | GJB1 | c.269T= (p.Leu90=) | |
| X | g.71223977C>A | CA516821358 | GJB1 | c.270C>A (p.Leu90=) | |
| X | g.71223977C= | CA2436388266 | GJB1 | c.270C= (p.Leu90=) | |
| X | g.71223977C>G | CA516821359 | GJB1 | c.270C>G (p.Leu90=) | ClinVar dbSNP gnomAD v4 |
| X | g.71223977C>T | CA330997712 | GJB1 | c.270C>T (p.Leu90=) | ClinVar dbSNP gnomAD v4 |
| X | g.71223978G>A | CA275057 | GJB1 | c.271G>A (p.Val91Met) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223978G>C | CA413501722 | GJB1 | c.271G>C (p.Val91Leu) | ClinVar dbSNP |
| X | g.71223978G= | CA2436388267 | GJB1 | c.271G= (p.Val91=) | |
| X | g.71223978G>T | CA413501723 | GJB1 | c.271G>T (p.Val91Leu) | |
| X | g.71223979T>A | CA413501725 | GJB1 | c.272T>A (p.Val91Glu) | ClinVar |
| X | g.71223979T>C | CA413501727 | GJB1 | c.272T>C (p.Val91Ala) | ClinVar |
| X | g.71223979T>G | CA413501728 | GJB1 | c.272T>G (p.Val91Gly) | ClinVar dbSNP |
| X | g.71223979T= | CA2436388268 | GJB1 | c.272T= (p.Val91=) | |
| X | g.71223979_71223981delinsTGG | CA2436388269 | GJB1 | c.272_274delinsTGG (p.Val91=) | |
| X | g.71223980G>A | CA10445288 | GJB1 | c.273G>A (p.Val91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223980G>C | CA516821360 | GJB1 | c.273G>C (p.Val91=) | |
| X | g.71223980G= | CA2436388270 | GJB1 | c.273G= (p.Val91=) | |
| X | g.71223980G>T | CA516821361 | GJB1 | c.273G>T (p.Val91=) | |
| X | g.71223980_71223981del | CA915951188 | GJB1 | c.273_274del (p.Ala92HisfsTer17) | ClinVar dbSNP |
| X | g.71223981G>A | CA413501731 | GJB1 | c.274G>A (p.Ala92Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.71223981G>C | CA413501732 | GJB1 | c.274G>C (p.Ala92Pro) | |
| X | g.71223981G= | CA2436388272 | GJB1 | c.274G= (p.Ala92=) | |
| X | g.71223981G>T | CA10445289 | GJB1 | c.274G>T (p.Ala92Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223981_71223983delinsGCC | CA2436388271 | GJB1 | c.274_276delinsGCC (p.Ala92=) | |
| X | g.71223982C>A | CA413501735 | GJB1 | c.275C>A (p.Ala92Asp) | |
| X | g.71223982C>G | CA413501736 | GJB1 | c.275C>G (p.Ala92Gly) | |
| X | g.71223982C>T | CA413501738 | GJB1 | c.275C>T (p.Ala92Val) | |
| X | g.71223982_71223983del | CA915951189 | GJB1 | c.275_276del (p.Ala92AspfsTer17) | ClinVar dbSNP |
| X | g.71223983C>A | CA516821364 | GJB1 | c.276C>A (p.Ala92=) | |
| X | g.71223983C>G | CA516821363 | GJB1 | c.276C>G (p.Ala92=) | |
| X | g.71223983C>T | CA516821362 | GJB1 | c.276C>T (p.Ala92=) | |
| X | g.71223983_71223985delinsCAT | CA2436388273 | GJB1 | c.276_278delinsCAT (p.Ala92=) | |
| X | g.71223984A= | CA2436388274 | GJB1 | c.277A= (p.Met93=) | |
| X | g.71223984A>C | CA413501742 | GJB1 | c.277A>C (p.Met93Leu) | |
| X | g.71223984A>G | CA413501743 | GJB1 | c.277A>G (p.Met93Val) | ClinVar dbSNP |
| X | g.71223984A>T | CA413501740 | GJB1 | c.277A>T (p.Met93Leu) | |
| X | g.71223984_71223985del | CA915951190 | GJB1 | c.277_278del (p.Met93AlafsTer16) | ClinVar dbSNP |