| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189211_20189212delinsTG | CA2077139387 | GJB2 | c.370_371delinsCA (p.Gln124=) | |
| 13 | g.20189212G>A | CA261645 | GJB2 | c.370C>T (p.Gln124Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189212G>C | CA387461287 | GJB2 | c.370C>G (p.Gln124Glu) | |
| 13 | g.20189212G= | CA2077139394 | GJB2 | c.370C= (p.Gln124=) | |
| 13 | g.20189212G>T | CA387461288 | GJB2 | c.370C>A (p.Gln124Lys) | |
| 13 | g.20189214del | CA696362935 | GJB2 | c.370del (p.Gln124ArgfsTer?) | dbSNP |
| 13 | g.20189213G>A | CA483154000 | GJB2 | c.369C>T (p.Thr123=) | gnomAD v4 |
| 13 | g.20189213G>C | CA483154001 | GJB2 | c.369C>G (p.Thr123=) | |
| 13 | g.20189213G>T | CA483154002 | GJB2 | c.369C>A (p.Thr123=) | |
| 13 | g.20189214G>A | CA387461289 | GJB2 | c.368C>T (p.Thr123Ile) | |
| 13 | g.20189214G>C | CA387461290 | GJB2 | c.368C>G (p.Thr123Ser) | |
| 13 | g.20189214G= | CA2077139401 | GJB2 | c.368C= (p.Thr123=) | |
| 13 | g.20189214G>T | CA134964 | GJB2 | c.368C>A (p.Thr123Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189215T>A | CA387461293 | GJB2 | c.367A>T (p.Thr123Ser) | |
| 13 | g.20189215T>C | CA387461292 | GJB2 | c.367A>G (p.Thr123Ala) | |
| 13 | g.20189215T>G | CA387461291 | GJB2 | c.367A>C (p.Thr123Pro) | |
| 13 | g.20189218del | CA2695217672 | GJB2 | c.367del (p.Thr123ProfsTer?) | |
| 13 | g.20189216T>A | CA387461294 | GJB2 | c.366A>T (p.Lys122Asn) | |
| 13 | g.20189216T>C | CA483154003 | GJB2 | c.366A>G (p.Lys122=) | |
| 13 | g.20189216T>G | CA387461295 | GJB2 | c.366A>C (p.Lys122Asn) | |
| 13 | g.20189217T>A | CA172230 | GJB2 | c.365A>T (p.Lys122Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189217T>C | CA387461296 | GJB2 | c.365A>G (p.Lys122Arg) | |
| 13 | g.20189217T>G | CA246460258 | GJB2 | c.365A>C (p.Lys122Thr) | dbSNP gnomAD v4 |
| 13 | g.20189217T= | CA2077139408 | GJB2 | c.365A= (p.Lys122=) | |
| 13 | g.20189218T>A | CA387461297 | GJB2 | c.364A>T (p.Lys122Ter) | |
| 13 | g.20189218T>C | CA387461298 | GJB2 | c.364A>G (p.Lys122Glu) | |
| 13 | g.20189218T>G | CA387461299 | GJB2 | c.364A>C (p.Lys122Gln) | |
| 13 | g.20189218_20189219delinsTG | CA2077139417 | GJB2 | c.363_364delinsCA (p.Ile121=) | |
| 13 | g.20189219del | CA608984164 | GJB2 | c.363del (p.Thr123ProfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189219G>A | CA483154004 | GJB2 | c.363C>T (p.Ile121=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189219G>C | CA387461300 | GJB2 | c.363C>G (p.Ile121Met) | gnomAD v4 |
| 13 | g.20189219G= | CA2077139419 | GJB2 | c.363C= (p.Ile121=) | |
| 13 | g.20189219G>T | CA483154005 | GJB2 | c.363C>A (p.Ile121=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189222_20189230del | CA2695217673 | GJB2 | c.355_363del (p.Glu119_Ile121del) | |
| 13 | g.20189220A= | CA2077139423 | GJB2 | c.362T= (p.Ile121=) | |
| 13 | g.20189220A>C | CA387461301 | GJB2 | c.362T>G (p.Ile121Ser) | |
| 13 | g.20189220A>G | CA387461302 | GJB2 | c.362T>C (p.Ile121Thr) | ClinVar dbSNP |
| 13 | g.20189220A>T | CA387461303 | GJB2 | c.362T>A (p.Ile121Asn) | |
| 13 | g.20189221T>A | CA387461305 | GJB2 | c.361A>T (p.Ile121Phe) | |
| 13 | g.20189221T>C | CA387461306 | GJB2 | c.361A>G (p.Ile121Val) | dbSNP gnomAD v4 |
| 13 | g.20189221T>G | CA387461304 | GJB2 | c.361A>C (p.Ile121Leu) | dbSNP |
| 13 | g.20189221T= | CA2077139429 | GJB2 | c.361A= (p.Ile121=) | |
| 13 | g.20189221_20189224delinsTCTC | CA2077139427 | GJB2 | c.358_361delinsGAGA (p.Glu120=) | |
| 13 | g.20189222del | CA2695217674 | GJB2 | c.360del (p.Ile121SerfsTer?) | |
| 13 | g.20189222C>A | CA387461307 | GJB2 | c.360G>T (p.Glu120Asp) | |
| 13 | g.20189222C>G | CA387461308 | GJB2 | c.360G>C (p.Glu120Asp) | |
| 13 | g.20189222C>T | CA483154006 | GJB2 | c.360G>A (p.Glu120=) | |
| 13 | g.20189225_20189227del | CA172226 | GJB2 | c.358_360del (p.Glu120del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189223T>A | CA387461309 | GJB2 | c.359A>T (p.Glu120Val) | |
| 13 | g.20189223T>C | CA387461310 | GJB2 | c.359A>G (p.Glu120Gly) |