| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224014A= | CA2436388294 | GJB1 | c.307A= (p.Lys103=) | |
| X | g.71224014A>C | CA413501863 | GJB1 | c.307A>C (p.Lys103Gln) | |
| X | g.71224014A>G | CA413501861 | GJB1 | c.307A>G (p.Lys103Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.71224014A>T | CA413501859 | GJB1 | c.307A>T (p.Lys103Ter) | |
| X | g.71224015dup | CA915951191 | GJB1 | c.308dup (p.Lys104GlufsTer6) | ClinVar dbSNP |
| X | g.71224015A>C | CA413501864 | GJB1 | c.308A>C (p.Lys103Thr) | |
| X | g.71224015A>G | CA413501865 | GJB1 | c.308A>G (p.Lys103Arg) | |
| X | g.71224015A>T | CA413501867 | GJB1 | c.308A>T (p.Lys103Met) | |
| X | g.71224016G>A | CA516820842 | GJB1 | c.309G>A (p.Lys103=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224016G>C | CA413501869 | GJB1 | c.309G>C (p.Lys103Asn) | |
| X | g.71224016G= | CA2436388296 | GJB1 | c.309G= (p.Lys103=) | |
| X | g.71224016G>T | CA413501870 | GJB1 | c.309G>T (p.Lys103Asn) | |
| X | g.71224016_71224017delinsGA | CA2436388295 | GJB1 | c.309_310delinsGA (p.Lys103=) | |
| X | g.71224017A>C | CA413501872 | GJB1 | c.310A>C (p.Lys104Gln) | |
| X | g.71224017A>G | CA413501874 | GJB1 | c.310A>G (p.Lys104Glu) | |
| X | g.71224017A>T | CA413501875 | GJB1 | c.310A>T (p.Lys104Ter) | ClinVar |
| X | g.71224020del | CA915951192 | GJB1 | c.313del (p.Met105CysfsTer16) | ClinVar dbSNP |
| X | g.71224018A= | CA2436388297 | GJB1 | c.311A= (p.Lys104=) | |
| X | g.71224018A>C | CA413501877 | GJB1 | c.311A>C (p.Lys104Thr) | ClinVar dbSNP |
| X | g.71224018A>G | CA413501879 | GJB1 | c.311A>G (p.Lys104Arg) | |
| X | g.71224018A>T | CA413501880 | GJB1 | c.311A>T (p.Lys104Ile) | ClinVar dbSNP |
| X | g.71224019A>C | CA413501882 | GJB1 | c.312A>C (p.Lys104Asn) | |
| X | g.71224019A>G | CA516820843 | GJB1 | c.312A>G (p.Lys104=) | |
| X | g.71224019A>T | CA413501883 | GJB1 | c.312A>T (p.Lys104Asn) | |
| X | g.71224020A>C | CA413501887 | GJB1 | c.313A>C (p.Met105Leu) | |
| X | g.71224020A>G | CA413501888 | GJB1 | c.313A>G (p.Met105Val) | gnomAD v4 |
| X | g.71224020A>T | CA413501886 | GJB1 | c.313A>T (p.Met105Leu) | |
| X | g.71224021T>A | CA413501890 | GJB1 | c.314T>A (p.Met105Lys) | |
| X | g.71224021T>C | CA10445291 | GJB1 | c.314T>C (p.Met105Thr) | dbSNP ExAC gnomAD v2 |
| X | g.71224021T>G | CA413501892 | GJB1 | c.314T>G (p.Met105Arg) | |
| X | g.71224021T= | CA2436388298 | GJB1 | c.314T= (p.Met105=) | |
| X | g.71224022G>A | CA413501893 | GJB1 | c.315G>A (p.Met105Ile) | |
| X | g.71224022G>C | CA413501895 | GJB1 | c.315G>C (p.Met105Ile) | |
| X | g.71224022G>T | CA413501897 | GJB1 | c.315G>T (p.Met105Ile) | |
| X | g.71224023_71224027del | CA2573159492 | GJB1 | c.316_320del (p.Leu106AlafsTer2) | ClinVar dbSNP |
| X | g.71224023C>A | CA413501899 | GJB1 | c.316C>A (p.Leu106Ile) | |
| X | g.71224023C>G | CA413501900 | GJB1 | c.316C>G (p.Leu106Val) | ClinVar |
| X | g.71224023C>T | CA516820844 | GJB1 | c.316C>T (p.Leu106=) | |
| X | g.71224024T>A | CA413501902 | GJB1 | c.317T>A (p.Leu106Gln) | |
| X | g.71224024T>C | CA413501903 | GJB1 | c.317T>C (p.Leu106Pro) | |
| X | g.71224024T>G | CA413501905 | GJB1 | c.317T>G (p.Leu106Arg) | |
| X | g.71224025A= | CA2436388299 | GJB1 | c.318A= (p.Leu106=) | |
| X | g.71224025A>C | CA516820845 | GJB1 | c.318A>C (p.Leu106=) | |
| X | g.71224025A>G | CA10445292 | GJB1 | c.318A>G (p.Leu106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224025A>T | CA516820846 | GJB1 | c.318A>T (p.Leu106=) | |
| X | g.71224025dup | CA2573055392 | GJB1 | c.318dup (p.Arg107ThrfsTer3) | ClinVar dbSNP |
| X | g.71224025_71224026del | CA2524494440 | GJB1 | c.318_319del (p.Arg107AlafsTer2) | |
| X | g.71224025_71224026delinsAC | CA2436388300 | GJB1 | c.318_319delinsAC (p.Leu106=) | |
| X | g.71224026del | CA891844220 | GJB1 | c.319del (p.Arg107GlyfsTer14) | ClinVar dbSNP |
| X | g.71224026C>A | CA516820847 | GJB1 | c.319C>A (p.Arg107=) | dbSNP gnomAD v3 gnomAD v4 |