| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223871_71223891dup | CA658659008 | GJB1 | c.164_184dup (p.Asn61_Ser62insThrLeuGlnProGlyCysAsn) | ClinVar dbSNP |
| X | g.71223890C>A | CA413501326 | GJB1 | c.183C>A (p.Asn61Lys) | ClinVar dbSNP |
| X | g.71223890C= | CA2436388205 | GJB1 | c.183C= (p.Asn61=) | |
| X | g.71223890C>G | CA413501329 | GJB1 | c.183C>G (p.Asn61Lys) | ClinVar |
| X | g.71223890C>T | CA516821256 | GJB1 | c.183C>T (p.Asn61=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223890dup | CA658659009 | GJB1 | c.183dup (p.Ser62GlnfsTer5) | ClinVar dbSNP |
| X | g.71223891A>C | CA413501331 | GJB1 | c.184A>C (p.Ser62Arg) | ClinVar |
| X | g.71223891A>G | CA413501333 | GJB1 | c.184A>G (p.Ser62Gly) | |
| X | g.71223891A>T | CA413501335 | GJB1 | c.184A>T (p.Ser62Cys) | |
| X | g.71223892G>A | CA413501336 | GJB1 | c.185G>A (p.Ser62Asn) | |
| X | g.71223892G>C | CA413501337 | GJB1 | c.185G>C (p.Ser62Thr) | ClinVar |
| X | g.71223892G>T | CA413501339 | GJB1 | c.185G>T (p.Ser62Ile) | |
| X | g.71223893C>A | CA413501343 | GJB1 | c.186C>A (p.Ser62Arg) | ClinVar |
| X | g.71223893C= | CA2436388206 | GJB1 | c.186C= (p.Ser62=) | |
| X | g.71223893C>G | CA413501341 | GJB1 | c.186C>G (p.Ser62Arg) | ClinVar dbSNP |
| X | g.71223893C>T | CA516821260 | GJB1 | c.186C>T (p.Ser62=) | gnomAD v4 |
| X | g.71223894G>A | CA341598 | GJB1 | c.187G>A (p.Val63Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.71223894G>C | CA413501345 | GJB1 | c.187G>C (p.Val63Leu) | |
| X | g.71223894G= | CA2436388207 | GJB1 | c.187G= (p.Val63=) | |
| X | g.71223894G>T | CA413501347 | GJB1 | c.187G>T (p.Val63Phe) | ClinVar dbSNP |
| X | g.71223895T>A | CA413501349 | GJB1 | c.188T>A (p.Val63Asp) | |
| X | g.71223895T>C | CA413501350 | GJB1 | c.188T>C (p.Val63Ala) | |
| X | g.71223895T>G | CA413501352 | GJB1 | c.188T>G (p.Val63Gly) | |
| X | g.71223896T>A | CA516821261 | GJB1 | c.189T>A (p.Val63=) | |
| X | g.71223896T>C | CA516821263 | GJB1 | c.189T>C (p.Val63=) | |
| X | g.71223896T>G | CA516821265 | GJB1 | c.189T>G (p.Val63=) | |
| X | g.71223897T>A | CA413501354 | GJB1 | c.190T>A (p.Cys64Ser) | |
| X | g.71223897T>C | CA413501356 | GJB1 | c.190T>C (p.Cys64Arg) | dbSNP |
| X | g.71223897T>G | CA413501355 | GJB1 | c.190T>G (p.Cys64Gly) | |
| X | g.71223898G>A | CA413501358 | GJB1 | c.191G>A (p.Cys64Tyr) | ClinVar dbSNP |
| X | g.71223898G>C | CA413501360 | GJB1 | c.191G>C (p.Cys64Ser) | ClinVar dbSNP |
| X | g.71223898G= | CA2436388208 | GJB1 | c.191G= (p.Cys64=) | |
| X | g.71223898G>T | CA413501361 | GJB1 | c.191G>T (p.Cys64Phe) | ClinVar dbSNP |
| X | g.71223899C>A | CA413501363 | GJB1 | c.192C>A (p.Cys64Ter) | ClinVar |
| X | g.71223899C>G | CA413501364 | GJB1 | c.192C>G (p.Cys64Trp) | ClinVar dbSNP |
| X | g.71223899C>T | CA516821268 | GJB1 | c.192C>T (p.Cys64=) | |
| X | g.71223900T>A | CA413501366 | GJB1 | c.193T>A (p.Tyr65Asn) | |
| X | g.71223900T>C | CA413501368 | GJB1 | c.193T>C (p.Tyr65His) | ClinVar dbSNP |
| X | g.71223900T>G | CA413501370 | GJB1 | c.193T>G (p.Tyr65Asp) | |
| X | g.71223900T= | CA2436388209 | GJB1 | c.193T= (p.Tyr65=) | |
| X | g.71223901A= | CA2436388210 | GJB1 | c.194A= (p.Tyr65=) | |
| X | g.71223901A>C | CA413501371 | GJB1 | c.194A>C (p.Tyr65Ser) | ClinVar dbSNP |
| X | g.71223901A>G | CA255248 | GJB1 | c.194A>G (p.Tyr65Cys) | ClinVar dbSNP |
| X | g.71223901A>T | CA413501373 | GJB1 | c.194A>T (p.Tyr65Phe) | |
| X | g.71223902T>A | CA413501375 | GJB1 | c.195T>A (p.Tyr65Ter) | |
| X | g.71223902T>C | CA516821273 | GJB1 | c.195T>C (p.Tyr65=) | |
| X | g.71223902T>G | CA413501376 | GJB1 | c.195T>G (p.Tyr65Ter) | ClinVar dbSNP |
| X | g.71223902T= | CA2436388211 | GJB1 | c.195T= (p.Tyr65=) | |
| X | g.71223902_71223905delinsTGAC | CA2436388212 | GJB1 | c.195_198delinsTGAC (p.Tyr65=) |