| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 |
| X | g.71224026C= | CA2436388301 | GJB1 | c.319C= (p.Arg107=) | |
| X | g.71224026C>G | CA413501907 | GJB1 | c.319C>G (p.Arg107Gly) | |
| X | g.71224026C>T | CA279061 | GJB1 | c.319C>T (p.Arg107Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224027G>A | CA413501913 | GJB1 | c.320G>A (p.Arg107Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224027G>C | CA413501911 | GJB1 | c.320G>C (p.Arg107Pro) | |
| X | g.71224027G= | CA2436388302 | GJB1 | c.320G= (p.Arg107=) | |
| X | g.71224027G>T | CA413501910 | GJB1 | c.320G>T (p.Arg107Leu) | |
| X | g.71224028G>A | CA516820848 | GJB1 | c.321G>A (p.Arg107=) | dbSNP gnomAD v4 |
| X | g.71224028G>C | CA516820849 | GJB1 | c.321G>C (p.Arg107=) | |
| X | g.71224028G= | CA2436388303 | GJB1 | c.321G= (p.Arg107=) | |
| X | g.71224028G>T | CA516820850 | GJB1 | c.321G>T (p.Arg107=) | |
| X | g.71224028_71224029insTG | CA2562517199 | GJB1 | c.321_322insTG (p.Leu108CysfsTer14) | |
| X | g.71224029C>A | CA413501914 | GJB1 | c.322C>A (p.Leu108Ile) | |
| X | g.71224029C= | CA2436388304 | GJB1 | c.322C= (p.Leu108=) | |
| X | g.71224029C>G | CA413501915 | GJB1 | c.322C>G (p.Leu108Val) | |
| X | g.71224029C>T | CA413501917 | GJB1 | c.322C>T (p.Leu108Phe) | |
| X | g.71224030T>A | CA413501919 | GJB1 | c.323T>A (p.Leu108His) | |
| X | g.71224030T>C | CA413501920 | GJB1 | c.323T>C (p.Leu108Pro) | ClinVar dbSNP |
| X | g.71224030T>G | CA413501922 | GJB1 | c.323T>G (p.Leu108Arg) | |
| X | g.71224030T= | CA2436388305 | GJB1 | c.323T= (p.Leu108=) | |
| X | g.71224031dup | CA658799791 | GJB1 | c.324dup (p.Glu109Ter) | ClinVar dbSNP |
| X | g.71224031T>A | CA516820851 | GJB1 | c.324T>A (p.Leu108=) | |
| X | g.71224031T>C | CA516820852 | GJB1 | c.324T>C (p.Leu108=) | |
| X | g.71224031T>G | CA516820853 | GJB1 | c.324T>G (p.Leu108=) | |
| X | g.71224032G>A | CA413501923 | GJB1 | c.325G>A (p.Glu109Lys) | gnomAD v4 |
| X | g.71224032G>C | CA413501924 | GJB1 | c.325G>C (p.Glu109Gln) | |
| X | g.71224032G= | CA2436388306 | GJB1 | c.325G= (p.Glu109=) | |
| X | g.71224032G>T | CA10445293 | GJB1 | c.325G>T (p.Glu109Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224033A>C | CA413501925 | GJB1 | c.326A>C (p.Glu109Ala) | |
| X | g.71224033A>G | CA413501926 | GJB1 | c.326A>G (p.Glu109Gly) | |
| X | g.71224033A>T | CA413501927 | GJB1 | c.326A>T (p.Glu109Val) |