| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189476_20189505dup | CA222248 | GJB2 | c.77_106dup (p.Ile35_Leu36insProValLeuPheIlePheArgIleMetIle) | ClinVar dbSNP |
| 13 | g.20189477_20189483delinsGATCATA | CA2077140383 | GJB2 | c.99_105delinsTATGATC (p.Ile33=) | |
| 13 | g.20189480_20189485del | CA6904319 | GJB2 | c.99_104del (p.Met34_Ile35del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189481A= | CA2077140396 | GJB2 | c.101T= (p.Met34=) | |
| 13 | g.20189481A>C | CA261633 | GJB2 | c.101T>G (p.Met34Arg) | ClinVar dbSNP |
| 13 | g.20189481A>G | CA172206 | GJB2 | c.101T>C (p.Met34Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189481A>T | CA387461971 | GJB2 | c.101T>A (p.Met34Lys) | |
| 13 | g.20189482T>A | CA6904321 | GJB2 | c.100A>T (p.Met34Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189482T>C | CA387461975 | GJB2 | c.100A>G (p.Met34Val) | |
| 13 | g.20189482T>G | CA387461977 | GJB2 | c.100A>C (p.Met34Leu) | |
| 13 | g.20189482T= | CA2077140404 | GJB2 | c.100A= (p.Met34=) | |
| 13 | g.20189482_20189483delinsTA | CA2077140405 | GJB2 | c.99_100delinsTA (p.Ile33=) | |
| 13 | g.20189483A>C | CA387461978 | GJB2 | c.99T>G (p.Ile33Met) | |
| 13 | g.20189483A>G | CA483153918 | GJB2 | c.99T>C (p.Ile33=) | |
| 13 | g.20189483A>T | CA483153919 | GJB2 | c.99T>A (p.Ile33=) | gnomAD v4 |
| 13 | g.20189484del | CA608984158 | GJB2 | c.99del (p.Met34Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189484A= | CA2077140410 | GJB2 | c.98T= (p.Ile33=) | |
| 13 | g.20189484A>C | CA387461981 | GJB2 | c.98T>G (p.Ile33Ser) | |
| 13 | g.20189484A>G | CA246460935 | GJB2 | c.98T>C (p.Ile33Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189484A>T | CA387461986 | GJB2 | c.98T>A (p.Ile33Asn) | |
| 13 | g.20189485T>A | CA387461988 | GJB2 | c.97A>T (p.Ile33Phe) | |
| 13 | g.20189485T>C | CA387461989 | GJB2 | c.97A>G (p.Ile33Val) | |
| 13 | g.20189485T>G | CA387461991 | GJB2 | c.97A>C (p.Ile33Leu) | |
| 13 | g.20189486G>A | CA483153920 | GJB2 | c.96C>T (p.Arg32=) | |
| 13 | g.20189486G>C | CA483153921 | GJB2 | c.96C>G (p.Arg32=) | |
| 13 | g.20189486G>T | CA483153922 | GJB2 | c.96C>A (p.Arg32=) | |
| 13 | g.20189487C>A | CA6904322 | GJB2 | c.95G>T (p.Arg32Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189487C= | CA2077140417 | GJB2 | c.95G= (p.Arg32=) | |
| 13 | g.20189487C>G | CA387461993 | GJB2 | c.95G>C (p.Arg32Pro) | dbSNP |
| 13 | g.20189487C>T | CA261654 | GJB2 | c.95G>A (p.Arg32His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189488G>A | CA273921 | GJB2 | c.94C>T (p.Arg32Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20189488G>C | CA387461994 | GJB2 | c.94C>G (p.Arg32Gly) | |
| 13 | g.20189488G= | CA2077140422 | GJB2 | c.94C= (p.Arg32=) | |
| 13 | g.20189488G>T | CA387461995 | GJB2 | c.94C>A (p.Arg32Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189488_20189489delinsGA | CA2077140423 | GJB2 | c.93_94delinsTC (p.Phe31=) | |
| 13 | g.20189489A>C | CA387461996 | GJB2 | c.93T>G (p.Phe31Leu) | |
| 13 | g.20189489A>G | CA483153923 | GJB2 | c.93T>C (p.Phe31=) | |
| 13 | g.20189489A>T | CA387461999 | GJB2 | c.93T>A (p.Phe31Leu) | |
| 13 | g.20189493del | CA2077140427 | GJB2 | c.93del (p.Arg32AlafsTer3) | dbSNP gnomAD v4 |
| 13 | g.20189490A>C | CA387462000 | GJB2 | c.92T>G (p.Phe31Cys) | |
| 13 | g.20189490A>G | CA387462008 | GJB2 | c.92T>C (p.Phe31Ser) | |
| 13 | g.20189490A>T | CA387462002 | GJB2 | c.92T>A (p.Phe31Tyr) | |
| 13 | g.20189491A>C | CA387462010 | GJB2 | c.91T>G (p.Phe31Val) | |
| 13 | g.20189491A>G | CA387462012 | GJB2 | c.91T>C (p.Phe31Leu) | |
| 13 | g.20189491A>T | CA387462013 | GJB2 | c.91T>A (p.Phe31Ile) | |
| 13 | g.20189492A>C | CA387462014 | GJB2 | c.90T>G (p.Ile30Met) | |
| 13 | g.20189492A>G | CA483153927 | GJB2 | c.90T>C (p.Ile30=) | |
| 13 | g.20189492A>T | CA483153928 | GJB2 | c.90T>A (p.Ile30=) | |
| 13 | g.20189493A>C | CA387462015 | GJB2 | c.89T>G (p.Ile30Ser) | |
| 13 | g.20189493A>G | CA387462017 | GJB2 | c.89T>C (p.Ile30Thr) |