| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20188947_20188952delinsTAACAC | CA2077138679 | GJB2 | c.630_635delinsGTGTTA (p.Leu210=) | |
| 13 | g.20188950_20188954del | CA608984139 | GJB2 | c.630_634del (p.Cys211PhefsTer4) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20188952_20188953del | CA172238 | GJB2 | c.632_633del (p.Cys211LeufsTer5) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20188952C>A | CA387460763 | GJB2 | c.630G>T (p.Leu210Phe) | |
| 13 | g.20188952C>G | CA387460764 | GJB2 | c.630G>C (p.Leu210Phe) | |
| 13 | g.20188952C>T | CA483154256 | GJB2 | c.630G>A (p.Leu210=) | dbSNP |
| 13 | g.20188953A>C | CA387460767 | GJB2 | c.629T>G (p.Leu210Trp) | |
| 13 | g.20188953A>G | CA387460765 | GJB2 | c.629T>C (p.Leu210Ser) | |
| 13 | g.20188953A>T | CA387460766 | GJB2 | c.629T>A (p.Leu210Ter) | |
| 13 | g.20188954A= | CA2077138694 | GJB2 | c.628T= (p.Leu210=) | |
| 13 | g.20188954A>C | CA387460768 | GJB2 | c.628T>G (p.Leu210Val) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20188954A>G | CA246459699 | GJB2 | c.628T>C (p.Leu210=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20188954A>T | CA387460769 | GJB2 | c.628T>A (p.Leu210Met) | |
| 13 | g.20188954_20188955del | CA2622252166 | GJB2 | c.627_628del (p.Glu209AspfsTer7) | gnomAD v4 |
| 13 | g.20188955T>A | CA387460770 | GJB2 | c.627A>T (p.Glu209Asp) | |
| 13 | g.20188955T>C | CA246459702 | GJB2 | c.627A>G (p.Glu209=) | dbSNP gnomAD v4 |
| 13 | g.20188955T>G | CA387460771 | GJB2 | c.627A>C (p.Glu209Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20188955T= | CA2077138698 | GJB2 | c.627A= (p.Glu209=) | |
| 13 | g.20188956T>A | CA387460772 | GJB2 | c.626A>T (p.Glu209Val) | |
| 13 | g.20188956T>C | CA6904222 | GJB2 | c.626A>G (p.Glu209Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20188956T>G | CA387460773 | GJB2 | c.626A>C (p.Glu209Ala) | |
| 13 | g.20188956T= | CA2077138701 | GJB2 | c.626A= (p.Glu209=) | |
| 13 | g.20188957C>A | CA387460774 | GJB2 | c.625G>T (p.Glu209Ter) | |
| 13 | g.20188957C>G | CA387460775 | GJB2 | c.625G>C (p.Glu209Gln) | |
| 13 | g.20188957C>T | CA387460776 | GJB2 | c.625G>A (p.Glu209Lys) | gnomAD v4 |
| 13 | g.20188958del | CA2573149176 | GJB2 | c.624del (p.Glu209AsnfsTer6) | ClinVar dbSNP |
| 13 | g.20188958A>C | CA483154262 | GJB2 | c.624T>G (p.Thr208=) | |
| 13 | g.20188958A>G | CA483154263 | GJB2 | c.624T>C (p.Thr208=) | |
| 13 | g.20188958A>T | CA483154265 | GJB2 | c.624T>A (p.Thr208=) | |
| 13 | g.20188959G>A | CA387460778 | GJB2 | c.623C>T (p.Thr208Ile) | |
| 13 | g.20188959G>C | CA387460779 | GJB2 | c.623C>G (p.Thr208Ser) | |
| 13 | g.20188959G>T | CA387460777 | GJB2 | c.623C>A (p.Thr208Asn) | |
| 13 | g.20188960T>A | CA387460780 | GJB2 | c.622A>T (p.Thr208Ser) | |
| 13 | g.20188960T>C | CA387460781 | GJB2 | c.622A>G (p.Thr208Ala) | |
| 13 | g.20188960T>G | CA387460782 | GJB2 | c.622A>C (p.Thr208Pro) | |
| 13 | g.20188961G>A | CA483154266 | GJB2 | c.621C>T (p.Val207=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20188961G>C | CA483154267 | GJB2 | c.621C>G (p.Val207=) | |
| 13 | g.20188961G= | CA2077138703 | GJB2 | c.621C= (p.Val207=) | |
| 13 | g.20188961G>T | CA483154268 | GJB2 | c.621C>A (p.Val207=) | gnomAD v4 |
| 13 | g.20188962A>C | CA387460783 | GJB2 | c.620T>G (p.Val207Gly) | |
| 13 | g.20188962A>G | CA387460784 | GJB2 | c.620T>C (p.Val207Ala) | |
| 13 | g.20188962A>T | CA387460785 | GJB2 | c.620T>A (p.Val207Asp) | |
| 13 | g.20188963C>A | CA246459713 | GJB2 | c.619G>T (p.Val207Phe) | dbSNP |
| 13 | g.20188963C= | CA2077138706 | GJB2 | c.619G= (p.Val207=) | |
| 13 | g.20188963C>G | CA387460786 | GJB2 | c.619G>C (p.Val207Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20188963C>T | CA387460787 | GJB2 | c.619G>A (p.Val207Ile) | |
| 13 | g.20188964A>C | CA387460788 | GJB2 | c.618T>G (p.Asn206Lys) | |
| 13 | g.20188964A>G | CA483154270 | GJB2 | c.618T>C (p.Asn206=) | gnomAD v4 |
| 13 | g.20188964A>T | CA387460789 | GJB2 | c.618T>A (p.Asn206Lys) | |
| 13 | g.20188965T>A | CA387460790 | GJB2 | c.617A>T (p.Asn206Ile) |