| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |