| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | |
| X | g.71223932del | CA341604 | GJB1 | c.225del (p.Leu76CysfsTer8) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223932G>A | CA516821313 | GJB1 | c.225G>A (p.Arg75=) | dbSNP |
| X | g.71223932G>C | CA516821315 | GJB1 | c.225G>C (p.Arg75=) | |
| X | g.71223932G= | CA2436388234 | GJB1 | c.225G= (p.Arg75=) | |
| X | g.71223932G>T | CA516821316 | GJB1 | c.225G>T (p.Arg75=) | |
| X | g.71223933C>A | CA413501576 | GJB1 | c.226C>A (p.Leu76Met) | gnomAD v4 |
| X | g.71223933C>G | CA413501578 | GJB1 | c.226C>G (p.Leu76Val) | |
| X | g.71223933C>T | CA516821317 | GJB1 | c.226C>T (p.Leu76=) | gnomAD v4 |
| X | g.71223934T>A | CA413501580 | GJB1 | c.227T>A (p.Leu76Gln) | |
| X | g.71223934T>C | CA413501582 | GJB1 | c.227T>C (p.Leu76Pro) | |
| X | g.71223934T>G | CA413501583 | GJB1 | c.227T>G (p.Leu76Arg) | ClinVar dbSNP |
| X | g.71223934T= | CA2436388235 | GJB1 | c.227T= (p.Leu76=) | |
| X | g.71223934dup | CA2697553166 | GJB1 | c.227dup (p.Trp77ValfsTer?) | |
| X | g.71223935G>A | CA516821319 | GJB1 | c.228G>A (p.Leu76=) | ClinVar gnomAD v4 |
| X | g.71223935G>C | CA516821321 | GJB1 | c.228G>C (p.Leu76=) | |
| X | g.71223935G= | CA2436388236 | GJB1 | c.228G= (p.Leu76=) | |
| X | g.71223935G>T | CA10445284 | GJB1 | c.228G>T (p.Leu76=) | dbSNP ExAC |
| X | g.71223936T>A | CA413501586 | GJB1 | c.229T>A (p.Trp77Arg) | |
| X | g.71223936T>C | CA413501589 | GJB1 | c.229T>C (p.Trp77Arg) | |
| X | g.71223936T>G | CA413501588 | GJB1 | c.229T>G (p.Trp77Gly) | |
| X | g.71223937G>A | CA413501591 | GJB1 | c.230G>A (p.Trp77Ter) | |
| X | g.71223937G>C | CA330997697 | GJB1 | c.230G>C (p.Trp77Ser) | ClinVar dbSNP |
| X | g.71223937G= | CA2436388237 | GJB1 | c.230G= (p.Trp77=) | |
| X | g.71223937G>T | CA413501593 | GJB1 | c.230G>T (p.Trp77Leu) | ClinVar dbSNP |
| X | g.71223938G>A | CA10584636 | GJB1 | c.231G>A (p.Trp77Ter) | ClinVar dbSNP |
| X | g.71223938G>C | CA413501596 | GJB1 | c.231G>C (p.Trp77Cys) | |
| X | g.71223938G= | CA2436388238 | GJB1 | c.231G= (p.Trp77=) | |
| X | g.71223938G>T | CA413501597 | GJB1 | c.231G>T (p.Trp77Cys) | |
| X | g.71223939T>A | CA413501599 | GJB1 | c.232T>A (p.Ser78Thr) | |
| X | g.71223939T>C | CA413501600 | GJB1 | c.232T>C (p.Ser78Pro) | |
| X | g.71223939T>G | CA413501602 | GJB1 | c.232T>G (p.Ser78Ala) | ClinVar dbSNP |
| X | g.71223939T= | CA2436388239 | GJB1 | c.232T= (p.Ser78=) | |
| X | g.71223940C>A | CA413501604 | GJB1 | c.233C>A (p.Ser78Tyr) | |
| X | g.71223940C= | CA2436388240 | GJB1 | c.233C= (p.Ser78=) | |
| X | g.71223940C>G | CA413501605 | GJB1 | c.233C>G (p.Ser78Cys) | |
| X | g.71223940C>T | CA413501606 | GJB1 | c.233C>T (p.Ser78Phe) | ClinVar dbSNP |
| X | g.71223942del | CA2499226843 | GJB1 | c.235del (p.Leu79CysfsTer5) | ClinVar dbSNP |
| X | g.71223941C>A | CA516821327 | GJB1 | c.234C>A (p.Ser78=) | |
| X | g.71223941C= | CA2436388241 | GJB1 | c.234C= (p.Ser78=) | |
| X | g.71223941C>G | CA516821329 | GJB1 | c.234C>G (p.Ser78=) | |
| X | g.71223941C>T | CA516821328 | GJB1 | c.234C>T (p.Ser78=) | ClinVar dbSNP |
| X | g.71223942C>A | CA413501607 | GJB1 | c.235C>A (p.Leu79Met) | |
| X | g.71223942C= | CA2436388242 | GJB1 | c.235C= (p.Leu79=) | |
| X | g.71223942C>G | CA413501609 | GJB1 | c.235C>G (p.Leu79Val) | |
| X | g.71223942C>T | CA350694 | GJB1 | c.235C>T (p.Leu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223943T>A | CA413501611 | GJB1 | c.236T>A (p.Leu79Gln) | |
| X | g.71223943T>C | CA413501613 | GJB1 | c.236T>C (p.Leu79Pro) | gnomAD v4 |
| X | g.71223943T>G | CA413501614 | GJB1 | c.236T>G (p.Leu79Arg) | |
| X | g.71223944G>A | CA516821330 | GJB1 | c.237G>A (p.Leu79=) | gnomAD v4 |