SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20222779A>C | CA387467313 | GJB6 | c.702T>G (p.His234Gln) | |
| 13 | g.20222779A>G | CA483154110 | GJB6 | c.702T>C (p.His234=) | |
| 13 | g.20222779A>T | CA387467315 | GJB6 | c.702T>A (p.His234Gln) | |
| 13 | g.20222780T>A | CA387467316 | GJB6 | c.701A>T (p.His234Leu) | |
| 13 | g.20222780T>C | CA6904390 | GJB6 | c.701A>G (p.His234Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222780T>G | CA387467318 | GJB6 | c.701A>C (p.His234Pro) | gnomAD v4 |
| 13 | g.20222780T= | CA2077159433 | GJB6 | c.701A= (p.His234=) | |
| 13 | g.20222781G>A | CA387467320 | GJB6 | c.700C>T (p.His234Tyr) | gnomAD v4 |
| 13 | g.20222781G>C | CA387467322 | GJB6 | c.700C>G (p.His234Asp) | |
| 13 | g.20222781G>T | CA387467324 | GJB6 | c.700C>A (p.His234Asn) | |
| 13 | g.20222782A>C | CA387467327 | GJB6 | c.699T>G (p.Asn233Lys) | |
| 13 | g.20222782A>G | CA483154111 | GJB6 | c.699T>C (p.Asn233=) | |
| 13 | g.20222782A>T | CA387467326 | GJB6 | c.699T>A (p.Asn233Lys) | |
| 13 | g.20222783T>A | CA387467328 | GJB6 | c.698A>T (p.Asn233Ile) | |
| 13 | g.20222783T>C | CA6904391 | GJB6 | c.698A>G (p.Asn233Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222783T>G | CA387467331 | GJB6 | c.698A>C (p.Asn233Thr) | |
| 13 | g.20222783T= | CA2077159436 | GJB6 | c.698A= (p.Asn233=) | |
| 13 | g.20222784T>A | CA387467333 | GJB6 | c.697A>T (p.Asn233Tyr) | |
| 13 | g.20222784T>C | CA387467334 | GJB6 | c.697A>G (p.Asn233Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222784T>G | CA387467335 | GJB6 | c.697A>C (p.Asn233His) | |
| 13 | g.20222784T= | CA2077159439 | GJB6 | c.697A= (p.Asn233=) | |
| 13 | g.20222785G>A | CA483154112 | GJB6 | c.696C>T (p.Pro232=) | |
| 13 | g.20222785G>C | CA483154114 | GJB6 | c.696C>G (p.Pro232=) | |
| 13 | g.20222785G>T | CA483154113 | GJB6 | c.696C>A (p.Pro232=) | |
| 13 | g.20222786G>A | CA6904392 | GJB6 | c.695C>T (p.Pro232Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222786G>C | CA387467337 | GJB6 | c.695C>G (p.Pro232Arg) | |
| 13 | g.20222786G= | CA2077159444 | GJB6 | c.695C= (p.Pro232=) | |
| 13 | g.20222786G>T | CA10605253 | GJB6 | c.695C>A (p.Pro232His) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20222787G>A | CA6904393 | GJB6 | c.694C>T (p.Pro232Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222787G>C | CA387467341 | GJB6 | c.694C>G (p.Pro232Ala) | |
| 13 | g.20222787G= | CA2077159449 | GJB6 | c.694C= (p.Pro232=) | |
| 13 | g.20222787G>T | CA387467343 | GJB6 | c.694C>A (p.Pro232Thr) | |
| 13 | g.20222788G>A | CA483154115 | GJB6 | c.693C>T (p.His231=) | |
| 13 | g.20222788G>C | CA387467344 | GJB6 | c.693C>G (p.His231Gln) | |
| 13 | g.20222788G= | CA2077159453 | GJB6 | c.693C= (p.His231=) | |
| 13 | g.20222788G>T | CA387467345 | GJB6 | c.693C>A (p.His231Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222789del | CA2622252283 | GJB6 | c.692del (p.His231ProfsTer6) | gnomAD v4 |
| 13 | g.20222789T>A | CA387467348 | GJB6 | c.692A>T (p.His231Leu) | dbSNP |
| 13 | g.20222789T>C | CA387467351 | GJB6 | c.692A>G (p.His231Arg) | |
| 13 | g.20222789T>G | CA387467349 | GJB6 | c.692A>C (p.His231Pro) | |
| 13 | g.20222789T= | CA2077159456 | GJB6 | c.692A= (p.His231=) | |
| 13 | g.20222790G>A | CA246490514 | GJB6 | c.691C>T (p.His231Tyr) | dbSNP COSMIC |
| 13 | g.20222790G>C | CA387467352 | GJB6 | c.691C>G (p.His231Asp) | |
| 13 | g.20222790G= | CA2077159460 | GJB6 | c.691C= (p.His231=) | |
| 13 | g.20222790G>T | CA387467354 | GJB6 | c.691C>A (p.His231Asn) | |
| 13 | g.20222791A>C | CA387467356 | GJB6 | c.690T>G (p.Asn230Lys) | |
| 13 | g.20222791A>G | CA483154116 | GJB6 | c.690T>C (p.Asn230=) | gnomAD v4 |
| 13 | g.20222791A>T | CA387467358 | GJB6 | c.690T>A (p.Asn230Lys) | |
| 13 | g.20222791_20222792delinsAT | CA2077159462 | GJB6 | c.689_690delinsAT (p.Asn230=) | |
| 13 | g.20222792T>A | CA387467362 | GJB6 | c.689A>T (p.Asn230Ile) | |
| 13 | g.20222792T>C | CA387467359 | GJB6 | c.689A>G (p.Asn230Ser) | |
| 13 | g.20222792T>G | CA387467360 | GJB6 | c.689A>C (p.Asn230Thr) | |
| 13 | g.20222798dup | CA183319 | GJB6 | c.689dup (p.Asn230LysfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222798del | CA953779357 | GJB6 | c.689del (p.Asn230IlefsTer7) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222792_20222793insA | CA483154117 | GJB6 | c.688_689insT (p.Asn230IlefsTer11) | |
| 13 | g.20222793T>A | CA387467364 | GJB6 | c.688A>T (p.Asn230Tyr) | ClinVar |
| 13 | g.20222793T>C | CA387467365 | GJB6 | c.688A>G (p.Asn230Asp) | |
| 13 | g.20222793T>G | CA387467367 | GJB6 | c.688A>C (p.Asn230His) | |
| 13 | g.20222794T>A | CA387467369 | GJB6 | c.687A>T (p.Lys229Asn) | |
| 13 | g.20222794T>C | CA483154118 | GJB6 | c.687A>G (p.Lys229=) | |
| 13 | g.20222794T>G | CA6904394 | GJB6 | c.687A>C (p.Lys229Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222794T= | CA2077159470 | GJB6 | c.687A= (p.Lys229=) | |
| 13 | g.20222795T>A | CA387467371 | GJB6 | c.686A>T (p.Lys229Ile) | |
| 13 | g.20222795T>C | CA387467373 | GJB6 | c.686A>G (p.Lys229Arg) | gnomAD v4 |
| 13 | g.20222795T>G | CA6904395 | GJB6 | c.686A>C (p.Lys229Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222795T= | CA2077159473 | GJB6 | c.686A= (p.Lys229=) | |
| 13 | g.20222796T>A | CA387467375 | GJB6 | c.685A>T (p.Lys229Ter) | |
| 13 | g.20222796T>C | CA387467376 | GJB6 | c.685A>G (p.Lys229Glu) | |
| 13 | g.20222796T>G | CA387467378 | GJB6 | c.685A>C (p.Lys229Gln) | |
| 13 | g.20222797T>A | CA387467380 | GJB6 | c.684A>T (p.Gln228His) | |
| 13 | g.20222797T>C | CA483154119 | GJB6 | c.684A>G (p.Gln228=) | |
| 13 | g.20222797T>G | CA387467382 | GJB6 | c.684A>C (p.Gln228His) | |
| 13 | g.20222798T>A | CA387467383 | GJB6 | c.683A>T (p.Gln228Leu) | |
| 13 | g.20222798T>C | CA387467384 | GJB6 | c.683A>G (p.Gln228Arg) | gnomAD v4 |
| 13 | g.20222798T>G | CA387467386 | GJB6 | c.683A>C (p.Gln228Pro) | |
| 13 | g.20222799G>A | CA387467388 | GJB6 | c.682C>T (p.Gln228Ter) | gnomAD v4 |
| 13 | g.20222799G>C | CA387467390 | GJB6 | c.682C>G (p.Gln228Glu) | |
| 13 | g.20222799G>T | CA387467391 | GJB6 | c.682C>A (p.Gln228Lys) | |
| 13 | g.20222800C>A | CA483154120 | GJB6 | c.681G>T (p.Thr227=) | |
| 13 | g.20222800C= | CA2077159477 | GJB6 | c.681G= (p.Thr227=) | |
| 13 | g.20222800C>G | CA6904397 | GJB6 | c.681G>C (p.Thr227=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222800C>T | CA6904396 | GJB6 | c.681G>A (p.Thr227=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20222801G>A | CA6904398 | GJB6 | c.680C>T (p.Thr227Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222801G>C | CA387467395 | GJB6 | c.680C>G (p.Thr227Arg) | |
| 13 | g.20222801G= | CA2077159484 | GJB6 | c.680C= (p.Thr227=) | |
| 13 | g.20222801G>T | CA387467396 | GJB6 | c.680C>A (p.Thr227Lys) | |
| 13 | g.20222802T>A | CA387467398 | GJB6 | c.679A>T (p.Thr227Ser) | |
| 13 | g.20222802T>C | CA387467400 | GJB6 | c.679A>G (p.Thr227Ala) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222802T>G | CA387467401 | GJB6 | c.679A>C (p.Thr227Pro) | |
| 13 | g.20222802T= | CA2077159488 | GJB6 | c.679A= (p.Thr227=) | |
| 13 | g.20222803C>A | CA387467404 | GJB6 | c.678G>T (p.Gln226His) | |
| 13 | g.20222803C>G | CA387467403 | GJB6 | c.678G>C (p.Gln226His) | |
| 13 | g.20222803C>T | CA483154121 | GJB6 | c.678G>A (p.Gln226=) | |
| 13 | g.20222804T>A | CA387467406 | GJB6 | c.677A>T (p.Gln226Leu) | dbSNP |
| 13 | g.20222804T>C | CA387467408 | GJB6 | c.677A>G (p.Gln226Arg) | |
| 13 | g.20222804T>G | CA387467409 | GJB6 | c.677A>C (p.Gln226Pro) | |
| 13 | g.20222804T= | CA2077159491 | GJB6 | c.677A= (p.Gln226=) | |
| 13 | g.20222805G>A | CA387467411 | GJB6 | c.676C>T (p.Gln226Ter) | |
| 13 | g.20222805G>C | CA387467413 | GJB6 | c.676C>G (p.Gln226Glu) | |
| 13 | g.20222805G>T | CA387467414 | GJB6 | c.676C>A (p.Gln226Lys) | |
| 13 | g.20222806T>A | CA483154122 | GJB6 | c.675A>T (p.Ala225=) | |
| 13 | g.20222806T>C | CA483154124 | GJB6 | c.675A>G (p.Ala225=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222806T>G | CA483154123 | GJB6 | c.675A>C (p.Ala225=) | |
| 13 | g.20222806T= | CA2077159494 | GJB6 | c.675A= (p.Ala225=) | |
| 13 | g.20222807G>A | CA387467419 | GJB6 | c.674C>T (p.Ala225Val) | |
| 13 | g.20222807G>C | CA387467416 | GJB6 | c.674C>G (p.Ala225Gly) | |
| 13 | g.20222807G= | CA2077159498 | GJB6 | c.674C= (p.Ala225=) | |
| 13 | g.20222807G>T | CA387467417 | GJB6 | c.674C>A (p.Ala225Glu) | dbSNP |
| 13 | g.20222808C>A | CA387467422 | GJB6 | c.673G>T (p.Ala225Ser) | |
| 13 | g.20222808C= | CA2077159499 | GJB6 | c.673G= (p.Ala225=) | |
| 13 | g.20222808C>G | CA387467423 | GJB6 | c.673G>C (p.Ala225Pro) | gnomAD v4 |
| 13 | g.20222808C>T | CA387467424 | GJB6 | c.673G>A (p.Ala225Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222812_20222813del | CA2622252284 | GJB6 | c.672_673del (p.Arg224SerfsTer16) | gnomAD v4 |
| 13 | g.20222809T>A | CA387467426 | GJB6 | c.672A>T (p.Arg224Ser) | |
| 13 | g.20222809T>C | CA6904399 | GJB6 | c.672A>G (p.Arg224=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222809T>G | CA387467428 | GJB6 | c.672A>C (p.Arg224Ser) | |
| 13 | g.20222809T= | CA2077159504 | GJB6 | c.672A= (p.Arg224=) | |
| 13 | g.20222810C>A | CA387467430 | GJB6 | c.671G>T (p.Arg224Ile) | |
| 13 | g.20222810C>G | CA387467431 | GJB6 | c.671G>C (p.Arg224Thr) | |
| 13 | g.20222810C>T | CA387467433 | GJB6 | c.671G>A (p.Arg224Lys) | COSMIC |
| 13 | g.20222811T>A | CA387467435 | GJB6 | c.670A>T (p.Arg224Ter) | |
| 13 | g.20222811T>C | CA387467436 | GJB6 | c.670A>G (p.Arg224Gly) | |
| 13 | g.20222811T>G | CA483154125 | GJB6 | c.670A>C (p.Arg224=) | |
| 13 | g.20222812C>A | CA387467437 | GJB6 | c.669G>T (p.Lys223Asn) | |
| 13 | g.20222812C= | CA2077159507 | GJB6 | c.669G= (p.Lys223=) | |
| 13 | g.20222812C>G | CA387467439 | GJB6 | c.669G>C (p.Lys223Asn) | |
| 13 | g.20222812C>T | CA483154126 | GJB6 | c.669G>A (p.Lys223=) | dbSNP |
| 13 | g.20222813T>A | CA387467444 | GJB6 | c.668A>T (p.Lys223Met) | |
| 13 | g.20222813T>C | CA387467441 | GJB6 | c.668A>G (p.Lys223Arg) | |
| 13 | g.20222813T>G | CA387467442 | GJB6 | c.668A>C (p.Lys223Thr) | ClinVar |
| 13 | g.20222814T>A | CA387467445 | GJB6 | c.667A>T (p.Lys223Ter) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222814T>C | CA387467447 | GJB6 | c.667A>G (p.Lys223Glu) | |
| 13 | g.20222814T>G | CA387467446 | GJB6 | c.667A>C (p.Lys223Gln) | |
| 13 | g.20222814T= | CA2077159510 | GJB6 | c.667A= (p.Lys223=) | |
| 13 | g.20222815T>A | CA483154127 | GJB6 | c.666A>T (p.Ser222=) | |
| 13 | g.20222815T>C | CA6904400 | GJB6 | c.666A>G (p.Ser222=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222815T>G | CA483154128 | GJB6 | c.666A>C (p.Ser222=) | |
| 13 | g.20222815T= | CA2077159514 | GJB6 | c.666A= (p.Ser222=) | |
| 13 | g.20222816G>A | CA387467448 | GJB6 | c.665C>T (p.Ser222Leu) | |
| 13 | g.20222816G>C | CA387467449 | GJB6 | c.665C>G (p.Ser222Ter) | |
| 13 | g.20222816G>T | CA387467450 | GJB6 | c.665C>A (p.Ser222Ter) | |
| 13 | g.20222817A>C | CA387467451 | GJB6 | c.664T>G (p.Ser222Ala) | |
| 13 | g.20222817A>G | CA387467452 | GJB6 | c.664T>C (p.Ser222Pro) | |
| 13 | g.20222817A>T | CA387467453 | GJB6 | c.664T>A (p.Ser222Thr) | |
| 13 | g.20222818T>A | CA387467454 | GJB6 | c.663A>T (p.Arg221Ser) | |
| 13 | g.20222818T>C | CA483154129 | GJB6 | c.663A>G (p.Arg221=) | |
| 13 | g.20222818T>G | CA387467455 | GJB6 | c.663A>C (p.Arg221Ser) | |
| 13 | g.20222818_20222821delinsTCTC | CA2077159518 | GJB6 | c.660_663delinsGAGA (p.Arg220=) | |
| 13 | g.20222819C>A | CA6904401 | GJB6 | c.662G>T (p.Arg221Ile) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 13 | g.20222819C= | CA2077159522 | GJB6 | c.662G= (p.Arg221=) | |
| 13 | g.20222819C>G | CA387467456 | GJB6 | c.662G>C (p.Arg221Thr) | |
| 13 | g.20222819C>T | CA387467458 | GJB6 | c.662G>A (p.Arg221Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222821_20222823del | CA608984166 | GJB6 | c.660_662del (p.Arg221del) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222820T>A | CA387467461 | GJB6 | c.661A>T (p.Arg221Ter) | |
| 13 | g.20222820T>C | CA387467462 | GJB6 | c.661A>G (p.Arg221Gly) | |
| 13 | g.20222820T>G | CA483154130 | GJB6 | c.661A>C (p.Arg221=) | |
| 13 | g.20222821C>A | CA387467463 | GJB6 | c.660G>T (p.Arg220Ser) | |
| 13 | g.20222821C= | CA2077159524 | GJB6 | c.660G= (p.Arg220=) | |
| 13 | g.20222821C>G | CA387467464 | GJB6 | c.660G>C (p.Arg220Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222821C>T | CA483154131 | GJB6 | c.660G>A (p.Arg220=) | |
| 13 | g.20222822C>A | CA387467465 | GJB6 | c.659G>T (p.Arg220Met) | |
| 13 | g.20222822C>G | CA387467467 | GJB6 | c.659G>C (p.Arg220Thr) | |
| 13 | g.20222822C>T | CA387467468 | GJB6 | c.659G>A (p.Arg220Lys) | |
| 13 | g.20222823T>A | CA387467469 | GJB6 | c.658A>T (p.Arg220Trp) | |
| 13 | g.20222823T>C | CA387467471 | GJB6 | c.658A>G (p.Arg220Gly) | |
| 13 | g.20222823T>G | CA483154132 | GJB6 | c.658A>C (p.Arg220=) | |
| 13 | g.20222824A>C | CA387467472 | GJB6 | c.657T>G (p.Phe219Leu) | |
| 13 | g.20222824A>G | CA483154133 | GJB6 | c.657T>C (p.Phe219=) | |
| 13 | g.20222824A>T | CA387467474 | GJB6 | c.657T>A (p.Phe219Leu) | |
| 13 | g.20222825A>C | CA387467476 | GJB6 | c.656T>G (p.Phe219Cys) | |
| 13 | g.20222825A>G | CA387467477 | GJB6 | c.656T>C (p.Phe219Ser) | |
| 13 | g.20222825A>T | CA387467478 | GJB6 | c.656T>A (p.Phe219Tyr) | |
| 13 | g.20222826A>C | CA387467480 | GJB6 | c.655T>G (p.Phe219Val) | |
| 13 | g.20222826A>G | CA387467483 | GJB6 | c.655T>C (p.Phe219Leu) | |
| 13 | g.20222826A>T | CA387467481 | GJB6 | c.655T>A (p.Phe219Ile) | |
| 13 | g.20222826_20222828delinsAAC | CA2077159526 | GJB6 | c.653_655delinsGTT (p.Cys218=) | |
| 13 | g.20222827A>C | CA387467485 | GJB6 | c.654T>G (p.Cys218Trp) | |
| 13 | g.20222827A>G | CA483154134 | GJB6 | c.654T>C (p.Cys218=) | |
| 13 | g.20222827A>T | CA387467487 | GJB6 | c.654T>A (p.Cys218Ter) | |
| 13 | g.20222831_20222832del | CA6904402 | GJB6 | c.653_654del (p.Cys218PhefsTer2) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222828C>A | CA387467489 | GJB6 | c.653G>T (p.Cys218Phe) | |
| 13 | g.20222828C>G | CA387467492 | GJB6 | c.653G>C (p.Cys218Ser) | |
| 13 | g.20222828C>T | CA387467491 | GJB6 | c.653G>A (p.Cys218Tyr) | |
| 13 | g.20222829A= | CA2077159529 | GJB6 | c.652T= (p.Cys218=) | |
| 13 | g.20222829A>C | CA387467494 | GJB6 | c.652T>G (p.Cys218Gly) | |
| 13 | g.20222829A>G | CA387467496 | GJB6 | c.652T>C (p.Cys218Arg) | |
| 13 | g.20222829A>T | CA6904403 | GJB6 | c.652T>A (p.Cys218Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222830C>A | CA483154135 | GJB6 | c.651G>T (p.Val217=) | dbSNP |
| 13 | g.20222830C= | CA2077159530 | GJB6 | c.651G= (p.Val217=) | |
| 13 | g.20222830C>G | CA483154136 | GJB6 | c.651G>C (p.Val217=) | |
| 13 | g.20222830C>T | CA483154137 | GJB6 | c.651G>A (p.Val217=) | |
| 13 | g.20222831A= | CA2077159532 | GJB6 | c.650T= (p.Val217=) | |
| 13 | g.20222831A>C | CA387467498 | GJB6 | c.650T>G (p.Val217Gly) | |
| 13 | g.20222831A>G | CA246490571 | GJB6 | c.650T>C (p.Val217Ala) | dbSNP |
| 13 | g.20222831A>T | CA6904404 | GJB6 | c.650T>A (p.Val217Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222832C>A | CA387467499 | GJB6 | c.649G>T (p.Val217Leu) | |
| 13 | g.20222832C>G | CA387467501 | GJB6 | c.649G>C (p.Val217Leu) | |
| 13 | g.20222832C>T | CA387467504 | GJB6 | c.649G>A (p.Val217Met) | |
| 13 | g.20222832_20222834delinsCTT | CA2077159536 | GJB6 | c.647_649delinsAAG (p.Lys216=) | |
| 13 | g.20222833T>A | CA387467506 | GJB6 | c.648A>T (p.Lys216Asn) | |
| 13 | g.20222833T>C | CA483154138 | GJB6 | c.648A>G (p.Lys216=) | |
| 13 | g.20222833T>G | CA387467508 | GJB6 | c.648A>C (p.Lys216Asn) | |
| 13 | g.20222833T= | CA2077159538 | GJB6 | c.648A= (p.Lys216=) | |
| 13 | g.20222834_20222835del | CA608984167 | GJB6 | c.647_648del (p.Lys216SerfsTer4) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222833_20222834insAA | CA2077159540 | GJB6 | c.647_648insTT (p.Lys216AsnfsTer2) | dbSNP |
| 13 | g.20222834T>A | CA387467513 | GJB6 | c.647A>T (p.Lys216Ile) | dbSNP |
| 13 | g.20222834T>C | CA387467510 | GJB6 | c.647A>G (p.Lys216Arg) | |
| 13 | g.20222834T>G | CA387467512 | GJB6 | c.647A>C (p.Lys216Thr) | |
| 13 | g.20222834T= | CA2077159541 | GJB6 | c.647A= (p.Lys216=) | |
| 13 | g.20222835T>A | CA387467515 | GJB6 | c.646A>T (p.Lys216Ter) | dbSNP |
| 13 | g.20222835T>C | CA387467517 | GJB6 | c.646A>G (p.Lys216Glu) | |
| 13 | g.20222835T>G | CA387467519 | GJB6 | c.646A>C (p.Lys216Gln) | |
| 13 | g.20222835T= | CA2077159544 | GJB6 | c.646A= (p.Lys216=) | |
| 13 | g.20222835_20222836insAAAA | CA608984168 | GJB6 | c.645_646insTTTT (p.Lys216PhefsTer2) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222836C>A | CA483154140 | GJB6 | c.645G>T (p.Leu215=) | |
| 13 | g.20222836C>G | CA483154141 | GJB6 | c.645G>C (p.Leu215=) | gnomAD v4 |
| 13 | g.20222836C>T | CA483154139 | GJB6 | c.645G>A (p.Leu215=) | |
| 13 | g.20222837A>C | CA387467520 | GJB6 | c.644T>G (p.Leu215Arg) | |
| 13 | g.20222837A>G | CA387467522 | GJB6 | c.644T>C (p.Leu215Pro) | |
| 13 | g.20222837A>T | CA387467523 | GJB6 | c.644T>A (p.Leu215Gln) | |
| 13 | g.20222837dup | CA2622252285 | GJB6 | c.644dup (p.Lys216GlufsTer5) | gnomAD v4 |
| 13 | g.20222838G>A | CA483154142 | GJB6 | c.643C>T (p.Leu215=) | |
| 13 | g.20222838G>C | CA387467524 | GJB6 | c.643C>G (p.Leu215Val) | |
| 13 | g.20222838G>T | CA387467525 | GJB6 | c.643C>A (p.Leu215Met) | |
| 13 | g.20222839C>A | CA483154144 | GJB6 | c.642G>T (p.Leu214=) | |
| 13 | g.20222839C= | CA2077159553 | GJB6 | c.642G= (p.Leu214=) | |
| 13 | g.20222839C>G | CA483154143 | GJB6 | c.642G>C (p.Leu214=) | gnomAD v4 |
| 13 | g.20222839C>T | CA246490580 | GJB6 | c.642G>A (p.Leu214=) | dbSNP gnomAD v4 |
| 13 | g.20222840A>C | CA387467526 | GJB6 | c.641T>G (p.Leu214Arg) | |
| 13 | g.20222840A>G | CA387467527 | GJB6 | c.641T>C (p.Leu214Pro) | |
| 13 | g.20222840A>T | CA387467529 | GJB6 | c.641T>A (p.Leu214Gln) | gnomAD v4 |
| 13 | g.20222841G>A | CA483154145 | GJB6 | c.640C>T (p.Leu214=) | |
| 13 | g.20222841G>C | CA387467532 | GJB6 | c.640C>G (p.Leu214Val) | |
| 13 | g.20222841G= | CA2077159556 | GJB6 | c.640C= (p.Leu214=) | |
| 13 | g.20222841G>T | CA246490587 | GJB6 | c.640C>A (p.Leu214Met) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222842C>A | CA483154147 | GJB6 | c.639G>T (p.Leu213=) | |
| 13 | g.20222842C>G | CA483154148 | GJB6 | c.639G>C (p.Leu213=) | |
| 13 | g.20222842C>T | CA483154146 | GJB6 | c.639G>A (p.Leu213=) | gnomAD v4 |
| 13 | g.20222843A>C | CA387467533 | GJB6 | c.638T>G (p.Leu213Arg) | gnomAD v4 |
| 13 | g.20222843A>G | CA387467535 | GJB6 | c.638T>C (p.Leu213Pro) | |
| 13 | g.20222843A>T | CA387467536 | GJB6 | c.638T>A (p.Leu213Gln) | |
| 13 | g.20222844G>A | CA483154149 | GJB6 | c.637C>T (p.Leu213=) | dbSNP gnomAD v2 |
| 13 | g.20222844G>C | CA387467537 | GJB6 | c.637C>G (p.Leu213Val) | |
| 13 | g.20222844G= | CA2077159558 | GJB6 | c.637C= (p.Leu213=) | |
| 13 | g.20222844G>T | CA387467538 | GJB6 | c.637C>A (p.Leu213Met) | |
| 13 | g.20222845del | CA2622252286 | GJB6 | c.637del (p.Leu213CysfsTer3) | gnomAD v4 |
| 13 | g.20222845G>A | CA6904405 | GJB6 | c.636C>T (p.Tyr212=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20222845G>C | CA387467542 | GJB6 | c.636C>G (p.Tyr212Ter) | |
| 13 | g.20222845G= | CA2077159561 | GJB6 | c.636C= (p.Tyr212=) | |
| 13 | g.20222845G>T | CA387467543 | GJB6 | c.636C>A (p.Tyr212Ter) | |
| 13 | g.20222846T>A | CA387467544 | GJB6 | c.635A>T (p.Tyr212Phe) | |
| 13 | g.20222846T>C | CA387467545 | GJB6 | c.635A>G (p.Tyr212Cys) | COSMIC |
| 13 | g.20222846T>G | CA387467546 | GJB6 | c.635A>C (p.Tyr212Ser) | |
| 13 | g.20222847A>C | CA387467547 | GJB6 | c.634T>G (p.Tyr212Asp) | |
| 13 | g.20222847A>G | CA387467548 | GJB6 | c.634T>C (p.Tyr212His) | |
| 13 | g.20222847A>T | CA387467551 | GJB6 | c.634T>A (p.Tyr212Asn) | |
| 13 | g.20222848G>A | CA483154150 | GJB6 | c.633C>T (p.Cys211=) | |
| 13 | g.20222848G>C | CA387467552 | GJB6 | c.633C>G (p.Cys211Trp) | |
| 13 | g.20222848G>T | CA387467554 | GJB6 | c.633C>A (p.Cys211Ter) | |
| 13 | g.20222849C>A | CA387467555 | GJB6 | c.632G>T (p.Cys211Phe) | dbSNP COSMIC |
| 13 | g.20222849C= | CA2077159563 | GJB6 | c.632G= (p.Cys211=) | |
| 13 | g.20222849C>G | CA387467556 | GJB6 | c.632G>C (p.Cys211Ser) | |
| 13 | g.20222849C>T | CA387467557 | GJB6 | c.632G>A (p.Cys211Tyr) | |
| 13 | g.20222850A= | CA2077159565 | GJB6 | c.631T= (p.Cys211=) | |
| 13 | g.20222850A>C | CA6904406 | GJB6 | c.631T>G (p.Cys211Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222850A>G | CA387467559 | GJB6 | c.631T>C (p.Cys211Arg) | |
| 13 | g.20222850A>T | CA387467561 | GJB6 | c.631T>A (p.Cys211Ser) | |
| 13 | g.20222851C>A | CA387467563 | GJB6 | c.630G>T (p.Leu210Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222851C= | CA2077159569 | GJB6 | c.630G= (p.Leu210=) | |
| 13 | g.20222851C>G | CA387467564 | GJB6 | c.630G>C (p.Leu210Phe) | |
| 13 | g.20222851C>T | CA483154151 | GJB6 | c.630G>A (p.Leu210=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222852A>C | CA387467566 | GJB6 | c.629T>G (p.Leu210Trp) | |
| 13 | g.20222852A>G | CA387467568 | GJB6 | c.629T>C (p.Leu210Ser) | |
| 13 | g.20222852A>T | CA387467569 | GJB6 | c.629T>A (p.Leu210Ter) | |
| 13 | g.20222853A>C | CA387467571 | GJB6 | c.628T>G (p.Leu210Val) | |
| 13 | g.20222853A>G | CA483154152 | GJB6 | c.628T>C (p.Leu210=) | gnomAD v4 |
| 13 | g.20222853A>T | CA387467573 | GJB6 | c.628T>A (p.Leu210Met) | |
| 13 | g.20222854C>A | CA387467575 | GJB6 | c.627G>T (p.Glu209Asp) | |
| 13 | g.20222854C= | CA2077159571 | GJB6 | c.627G= (p.Glu209=) | |
| 13 | g.20222854C>G | CA387467576 | GJB6 | c.627G>C (p.Glu209Asp) | |
| 13 | g.20222854C>T | CA246490591 | GJB6 | c.627G>A (p.Glu209=) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20222855T>A | CA387467579 | GJB6 | c.626A>T (p.Glu209Val) | |
| 13 | g.20222855T>C | CA387467580 | GJB6 | c.626A>G (p.Glu209Gly) | dbSNP gnomAD v2 |
| 13 | g.20222855T>G | CA387467582 | GJB6 | c.626A>C (p.Glu209Ala) | |
| 13 | g.20222855T= | CA2077159572 | GJB6 | c.626A= (p.Glu209=) | |
| 13 | g.20222856C>A | CA387467583 | GJB6 | c.625G>T (p.Glu209Ter) | |
| 13 | g.20222856C>G | CA387467584 | GJB6 | c.625G>C (p.Glu209Gln) | |
| 13 | g.20222856C>T | CA387467586 | GJB6 | c.625G>A (p.Glu209Lys) | |
| 13 | g.20222857T>A | CA483154153 | GJB6 | c.624A>T (p.Ala208=) | |
| 13 | g.20222857T>C | CA483154154 | GJB6 | c.624A>G (p.Ala208=) | |
| 13 | g.20222857T>G | CA483154155 | GJB6 | c.624A>C (p.Ala208=) | |
| 13 | g.20222858G>A | CA246490594 | GJB6 | c.623C>T (p.Ala208Val) | dbSNP gnomAD v4 |
| 13 | g.20222858G>C | CA387467589 | GJB6 | c.623C>G (p.Ala208Gly) | |
| 13 | g.20222858G= | CA2077159574 | GJB6 | c.623C= (p.Ala208=) | |
| 13 | g.20222858G>T | CA387467588 | GJB6 | c.623C>A (p.Ala208Glu) | |
| 13 | g.20222859C>A | CA387467592 | GJB6 | c.622G>T (p.Ala208Ser) | |
| 13 | g.20222859C>G | CA387467593 | GJB6 | c.622G>C (p.Ala208Pro) | |
| 13 | g.20222859C>T | CA387467595 | GJB6 | c.622G>A (p.Ala208Thr) | gnomAD v4 |
| 13 | g.20222860C>A | CA483154156 | GJB6 | c.621G>T (p.Val207=) | |
| 13 | g.20222860C>G | CA483154157 | GJB6 | c.621G>C (p.Val207=) | |
| 13 | g.20222860C>T | CA483154158 | GJB6 | c.621G>A (p.Val207=) | |
| 13 | g.20222861A>C | CA387467597 | GJB6 | c.620T>G (p.Val207Gly) | |
| 13 | g.20222861A>G | CA387467598 | GJB6 | c.620T>C (p.Val207Ala) | ClinVar |
| 13 | g.20222861A>T | CA387467600 | GJB6 | c.620T>A (p.Val207Glu) | |
| 13 | g.20222862C>A | CA387467602 | GJB6 | c.619G>T (p.Val207Leu) | |
| 13 | g.20222862C= | CA2077159576 | GJB6 | c.619G= (p.Val207=) | |
| 13 | g.20222862C>G | CA387467604 | GJB6 | c.619G>C (p.Val207Leu) | gnomAD v4 |
| 13 | g.20222862C>T | CA136468 | GJB6 | c.619G>A (p.Val207Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222863G>A | CA6904407 | GJB6 | c.618C>T (p.Asn206=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222863G>C | CA387467606 | GJB6 | c.618C>G (p.Asn206Lys) | |
| 13 | g.20222863G= | CA2077159582 | GJB6 | c.618C= (p.Asn206=) | |
| 13 | g.20222863G>T | CA387467608 | GJB6 | c.618C>A (p.Asn206Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222864T>A | CA387467610 | GJB6 | c.617A>T (p.Asn206Ile) | |
| 13 | g.20222864T>C | CA387467612 | GJB6 | c.617A>G (p.Asn206Ser) | |
| 13 | g.20222864T>G | CA6904408 | GJB6 | c.617A>C (p.Asn206Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222864T= | CA2077159584 | GJB6 | c.617A= (p.Asn206=) | |
| 13 | g.20222865T>A | CA387467613 | GJB6 | c.616A>T (p.Asn206Tyr) | |
| 13 | g.20222865T>C | CA387467615 | GJB6 | c.616A>G (p.Asn206Asp) | |
| 13 | g.20222865T>G | CA387467617 | GJB6 | c.616A>C (p.Asn206His) | |
| 13 | g.20222866A>C | CA483154159 | GJB6 | c.615T>G (p.Leu205=) | |
| 13 | g.20222866A>G | CA483154160 | GJB6 | c.615T>C (p.Leu205=) | |
| 13 | g.20222866A>T | CA483154161 | GJB6 | c.615T>A (p.Leu205=) | |
| 13 | g.20222867A>C | CA387467621 | GJB6 | c.614T>G (p.Leu205Arg) | gnomAD v4 |
| 13 | g.20222867A>G | CA387467623 | GJB6 | c.614T>C (p.Leu205Pro) | |
| 13 | g.20222867A>T | CA387467625 | GJB6 | c.614T>A (p.Leu205His) | |
| 13 | g.20222868G>A | CA387467626 | GJB6 | c.613C>T (p.Leu205Phe) | gnomAD v4 |
| 13 | g.20222868G>C | CA387467630 | GJB6 | c.613C>G (p.Leu205Val) | |
| 13 | g.20222868G>T | CA387467628 | GJB6 | c.613C>A (p.Leu205Ile) | |
| 13 | g.20222869C>A | CA483154162 | GJB6 | c.612G>T (p.Leu204=) | |
| 13 | g.20222869C>G | CA483154163 | GJB6 | c.612G>C (p.Leu204=) | |
| 13 | g.20222869C>T | CA483154164 | GJB6 | c.612G>A (p.Leu204=) | gnomAD v4 |
| 13 | g.20222870A>C | CA387467632 | GJB6 | c.611T>G (p.Leu204Arg) | |
| 13 | g.20222870A>G | CA387467633 | GJB6 | c.611T>C (p.Leu204Pro) | |
| 13 | g.20222870A>T | CA387467634 | GJB6 | c.611T>A (p.Leu204Gln) | |
| 13 | g.20222871G>A | CA483154165 | GJB6 | c.610C>T (p.Leu204=) | |
| 13 | g.20222871G>C | CA387467635 | GJB6 | c.610C>G (p.Leu204Val) | |
| 13 | g.20222871G>T | CA387467637 | GJB6 | c.610C>A (p.Leu204Met) | |
| 13 | g.20222872C>A | CA387467639 | GJB6 | c.609G>T (p.Met203Ile) | |
| 13 | g.20222872C>G | CA387467640 | GJB6 | c.609G>C (p.Met203Ile) | |
| 13 | g.20222872C>T | CA387467641 | GJB6 | c.609G>A (p.Met203Ile) | |
| 13 | g.20222873A>C | CA387467642 | GJB6 | c.608T>G (p.Met203Arg) | |
| 13 | g.20222873A>G | CA387467643 | GJB6 | c.608T>C (p.Met203Thr) | gnomAD v4 |
| 13 | g.20222873A>T | CA387467644 | GJB6 | c.608T>A (p.Met203Lys) | |
| 13 | g.20222874T>A | CA387467648 | GJB6 | c.607A>T (p.Met203Leu) | |
| 13 | g.20222874T>C | CA136466 | GJB6 | c.607A>G (p.Met203Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222874T>G | CA387467646 | GJB6 | c.607A>C (p.Met203Leu) | ClinVar |
| 13 | g.20222874T= | CA2077159588 | GJB6 | c.607A= (p.Met203=) | |
| 13 | g.20222875G>A | CA483154166 | GJB6 | c.606C>T (p.Cys202=) | dbSNP gnomAD v4 |
| 13 | g.20222875G>C | CA387467650 | GJB6 | c.606C>G (p.Cys202Trp) | |
| 13 | g.20222875G= | CA2077159591 | GJB6 | c.606C= (p.Cys202=) | |
| 13 | g.20222875G>T | CA387467652 | GJB6 | c.606C>A (p.Cys202Ter) | |
| 13 | g.20222876C>A | CA387467654 | GJB6 | c.605G>T (p.Cys202Phe) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.20222876C= | CA2077159593 | GJB6 | c.605G= (p.Cys202=) | |
| 13 | g.20222876C>G | CA387467655 | GJB6 | c.605G>C (p.Cys202Ser) | |
| 13 | g.20222876C>T | CA387467657 | GJB6 | c.605G>A (p.Cys202Tyr) | |
| 13 | g.20222877A= | CA2077159595 | GJB6 | c.604T= (p.Cys202=) | |
| 13 | g.20222877A>C | CA387467659 | GJB6 | c.604T>G (p.Cys202Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222877A>G | CA246490627 | GJB6 | c.604T>C (p.Cys202Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20222877A>T | CA387467661 | GJB6 | c.604T>A (p.Cys202Ser) | |
| 13 | g.20222878A>C | CA387467663 | GJB6 | c.603T>G (p.Ile201Met) | gnomAD v4 |
| 13 | g.20222878A>G | CA483154167 | GJB6 | c.603T>C (p.Ile201=) | |
| 13 | g.20222878A>T | CA483154168 | GJB6 | c.603T>A (p.Ile201=) | |
| 13 | g.20222879A= | CA2077159600 | GJB6 | c.602T= (p.Ile201=) | |
| 13 | g.20222879A>C | CA387467665 | GJB6 | c.602T>G (p.Ile201Ser) | |
| 13 | g.20222879A>G | CA387467666 | GJB6 | c.602T>C (p.Ile201Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20222879A>T | CA387467668 | GJB6 | c.602T>A (p.Ile201Asn) |