| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189266_20189279del | CA2695217681 | GJB2 | c.303_316del (p.Glu101AspfsTer9) | |
| 13 | g.20189271_20189274delinsCTCT | CA2077139558 | GJB2 | c.308_311delinsAGAG (p.Lys103=) | |
| 13 | g.20189278_20189280del | CA645587645 | GJB2 | c.308_310del (p.Lys103del) | ClinVar dbSNP gnomAD v4 COSMIC |
| 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) |