| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189252_20189268delinsCTCCCCCTTGATGAACT | CA2077139491 | GJB2 | c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=) | |
| 13 | g.20189256_20189271del | CA277273 | GJB2 | c.314_329del (p.Lys105ArgfsTer2) | ClinVar dbSNP |
| 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.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) |