| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223971_71223987del | CA2573159491 | GJB1 | c.264_280del (p.Leu89ArgfsTer15) | ClinVar dbSNP |
| X | g.71223981_71223983delinsGCC | CA2436388271 | GJB1 | c.274_276delinsGCC (p.Ala92=) | |
| X | g.71223982_71223983del | CA915951189 | GJB1 | c.275_276del (p.Ala92AspfsTer17) | ClinVar dbSNP |
| X | g.71223983C>A | CA516821364 | GJB1 | c.276C>A (p.Ala92=) | |
| X | g.71223983C>G | CA516821363 | GJB1 | c.276C>G (p.Ala92=) | |
| X | g.71223983C>T | CA516821362 | GJB1 | c.276C>T (p.Ala92=) | |
| X | g.71223983_71223985delinsCAT | CA2436388273 | GJB1 | c.276_278delinsCAT (p.Ala92=) | |
| X | g.71223984A= | CA2436388274 | GJB1 | c.277A= (p.Met93=) | |
| X | g.71223984A>C | CA413501742 | GJB1 | c.277A>C (p.Met93Leu) | |
| X | g.71223984A>G | CA413501743 | GJB1 | c.277A>G (p.Met93Val) | ClinVar dbSNP |
| X | g.71223984A>T | CA413501740 | GJB1 | c.277A>T (p.Met93Leu) | |
| X | g.71223984_71223985del | CA915951190 | GJB1 | c.277_278del (p.Met93AlafsTer16) | ClinVar dbSNP |
| X | g.71223985T>A | CA413501747 | GJB1 | c.278T>A (p.Met93Lys) | ClinVar dbSNP |
| X | g.71223985T>C | CA413501745 | GJB1 | c.278T>C (p.Met93Thr) | gnomAD v4 |
| X | g.71223985T>G | CA413501746 | GJB1 | c.278T>G (p.Met93Arg) | ClinVar dbSNP |
| X | g.71223985T= | CA2436388275 | GJB1 | c.278T= (p.Met93=) | |
| X | g.71223986G>A | CA413501750 | GJB1 | c.279G>A (p.Met93Ile) | |
| X | g.71223986G>C | CA413501752 | GJB1 | c.279G>C (p.Met93Ile) | dbSNP |
| X | g.71223986G= | CA2436388276 | GJB1 | c.279G= (p.Met93=) | |
| X | g.71223986G>T | CA413501753 | GJB1 | c.279G>T (p.Met93Ile) | |
| X | g.71223987C>A | CA413501757 | GJB1 | c.280C>A (p.His94Asn) | gnomAD v4 |
| X | g.71223987C= | CA2436388277 | GJB1 | c.280C= (p.His94=) | |
| X | g.71223987C>G | CA413501755 | GJB1 | c.280C>G (p.His94Asp) | ClinVar dbSNP |
| X | g.71223987C>T | CA413501754 | GJB1 | c.280C>T (p.His94Tyr) | ClinVar dbSNP |
| X | g.71223988A= | CA2436388278 | GJB1 | c.281A= (p.His94=) | |
| X | g.71223988A>C | CA413501759 | GJB1 | c.281A>C (p.His94Pro) | |
| X | g.71223988A>G | CA413501761 | GJB1 | c.281A>G (p.His94Arg) | ClinVar dbSNP |
| X | g.71223988A>T | CA413501762 | GJB1 | c.281A>T (p.His94Leu) | |
| X | g.71223989C>A | CA10584638 | GJB1 | c.282C>A (p.His94Gln) | ClinVar dbSNP |
| X | g.71223989C= | CA2436388279 | GJB1 | c.282C= (p.His94=) | |
| X | g.71223989C>G | CA413501765 | GJB1 | c.282C>G (p.His94Gln) | ClinVar dbSNP |
| X | g.71223989C>T | CA10445290 | GJB1 | c.282C>T (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223990G>A | CA255254 | GJB1 | c.283G>A (p.Val95Met) | ClinVar dbSNP |
| X | g.71223990G>C | CA413501767 | GJB1 | c.283G>C (p.Val95Leu) | |
| X | g.71223990G= | CA2436388280 | GJB1 | c.283G= (p.Val95=) | |
| X | g.71223990G>T | CA413501769 | GJB1 | c.283G>T (p.Val95Leu) | |
| X | g.71223991T>A | CA413501771 | GJB1 | c.284T>A (p.Val95Glu) | |
| X | g.71223991T>C | CA413501773 | GJB1 | c.284T>C (p.Val95Ala) | |
| X | g.71223991T>G | CA413501774 | GJB1 | c.284T>G (p.Val95Gly) | |
| X | g.71223992G>A | CA516821365 | GJB1 | c.285G>A (p.Val95=) | |
| X | g.71223992G>C | CA516821366 | GJB1 | c.285G>C (p.Val95=) | |
| X | g.71223992G>T | CA516821367 | GJB1 | c.285G>T (p.Val95=) | |
| X | g.71223993G>A | CA413501776 | GJB1 | c.286G>A (p.Ala96Thr) | |
| X | g.71223993G>C | CA413501778 | GJB1 | c.286G>C (p.Ala96Pro) | ClinVar dbSNP |
| X | g.71223993G= | CA2436388281 | GJB1 | c.286G= (p.Ala96=) | |
| X | g.71223993G>T | CA413501779 | GJB1 | c.286G>T (p.Ala96Ser) | |
| X | g.71223994C>A | CA413501781 | GJB1 | c.287C>A (p.Ala96Asp) | |
| X | g.71223994C= | CA2436388282 | GJB1 | c.287C= (p.Ala96=) | |
| X | g.71223994C>G | CA330997722 | GJB1 | c.287C>G (p.Ala96Gly) | ClinVar dbSNP |
| X | g.71223994C>T | CA413501782 | GJB1 | c.287C>T (p.Ala96Val) | ClinVar dbSNP |