| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189410_20189411delinsAA | CA2695217719 | GJB2 | c.171_172delinsTT (p.Gln57_Pro58delinsHisSer) | |
| 13 | g.20189411C>A | CA387461713 | GJB2 | c.171G>T (p.Gln57His) | |
| 13 | g.20189411C= | CA2077140121 | GJB2 | c.171G= (p.Gln57=) | |
| 13 | g.20189411C>G | CA387461715 | GJB2 | c.171G>C (p.Gln57His) | |
| 13 | g.20189411C>T | CA16621645 | GJB2 | c.171G>A (p.Gln57=) | ClinVar dbSNP |
| 13 | g.20189412T>A | CA387461717 | GJB2 | c.170A>T (p.Gln57Leu) | |
| 13 | g.20189412T>C | CA387461718 | GJB2 | c.170A>G (p.Gln57Arg) | |
| 13 | g.20189412T>G | CA387461720 | GJB2 | c.170A>C (p.Gln57Pro) | |
| 13 | g.20189413G>A | CA261637 | GJB2 | c.169C>T (p.Gln57Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189413G>C | CA387461722 | GJB2 | c.169C>G (p.Gln57Glu) | |
| 13 | g.20189413G= | CA2077140126 | GJB2 | c.169C= (p.Gln57=) | |
| 13 | g.20189413G>T | CA387461724 | GJB2 | c.169C>A (p.Gln57Lys) | |
| 13 | g.20189414C>A | CA483153847 | GJB2 | c.168G>T (p.Leu56=) | |
| 13 | g.20189414C>G | CA483153848 | GJB2 | c.168G>C (p.Leu56=) | |
| 13 | g.20189414C>T | CA483153849 | GJB2 | c.168G>A (p.Leu56=) | |
| 13 | g.20189414_20189415delinsCA | CA2077140129 | GJB2 | c.167_168delinsTG (p.Leu56=) | |
| 13 | g.20189415del | CA172217 | GJB2 | c.167del (p.Leu56ArgfsTer26) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189415A= | CA2581125597 | GJB2 | c.167T= (p.Leu56=) | |
| 13 | g.20189415A>C | CA387461726 | GJB2 | c.167T>G (p.Leu56Arg) | |
| 13 | g.20189415A>G | CA387461728 | GJB2 | c.167T>C (p.Leu56Pro) | |
| 13 | g.20189415A>T | CA387461729 | GJB2 | c.167T>A (p.Leu56Gln) | |
| 13 | g.20189415dup | CA2575364822 | GJB2 | c.167dup (p.Gln57AlafsTer?) | |
| 13 | g.20189416G>A | CA246460780 | GJB2 | c.166C>T (p.Leu56=) | ClinVar dbSNP |
| 13 | g.20189416G>C | CA387461732 | GJB2 | c.166C>G (p.Leu56Val) | |
| 13 | g.20189416G= | CA2077140134 | GJB2 | c.166C= (p.Leu56=) | |
| 13 | g.20189416G>T | CA387461734 | GJB2 | c.166C>A (p.Leu56Met) | |
| 13 | g.20189418del | CA387461735 | GJB2 | c.166del (p.Leu56CysfsTer26) | |
| 13 | g.20189417G>A | CA483153852 | GJB2 | c.165C>T (p.Thr55=) | gnomAD v4 |
| 13 | g.20189417G>C | CA483153854 | GJB2 | c.165C>G (p.Thr55=) | |
| 13 | g.20189417G>T | CA483153853 | GJB2 | c.165C>A (p.Thr55=) | |
| 13 | g.20189418G>A | CA387461738 | GJB2 | c.164C>T (p.Thr55Ile) | |
| 13 | g.20189418G>C | CA387461739 | GJB2 | c.164C>G (p.Thr55Ser) | |
| 13 | g.20189418G= | CA2077140138 | GJB2 | c.164C= (p.Thr55=) | |
| 13 | g.20189418G>T | CA16621540 | GJB2 | c.164C>A (p.Thr55Asn) | ClinVar dbSNP |
| 13 | g.20189419T>A | CA387461741 | GJB2 | c.163A>T (p.Thr55Ser) | |
| 13 | g.20189419T>C | CA387461742 | GJB2 | c.163A>G (p.Thr55Ala) | |
| 13 | g.20189419T>G | CA387461744 | GJB2 | c.163A>C (p.Thr55Pro) | dbSNP |
| 13 | g.20189419T= | CA2077140144 | GJB2 | c.163A= (p.Thr55=) | |
| 13 | g.20189420G>A | CA483153855 | GJB2 | c.162C>T (p.Asn54=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189420G>C | CA387461746 | GJB2 | c.162C>G (p.Asn54Lys) | |
| 13 | g.20189420G= | CA2077140149 | GJB2 | c.162C= (p.Asn54=) | |
| 13 | g.20189420G>T | CA127032 | GJB2 | c.162C>A (p.Asn54Lys) | ClinVar dbSNP |
| 13 | g.20189421T>A | CA387461751 | GJB2 | c.161A>T (p.Asn54Ile) | |
| 13 | g.20189421T>C | CA387461749 | GJB2 | c.161A>G (p.Asn54Ser) | ClinVar dbSNP |
| 13 | g.20189421T>G | CA387461750 | GJB2 | c.161A>C (p.Asn54Thr) | |
| 13 | g.20189422T>A | CA387461753 | GJB2 | c.160A>T (p.Asn54Tyr) | |
| 13 | g.20189422T>C | CA387461754 | GJB2 | c.160A>G (p.Asn54Asp) | |
| 13 | g.20189422T>G | CA387461756 | GJB2 | c.160A>C (p.Asn54His) | |
| 13 | g.20189423G>A | CA246460790 | GJB2 | c.159C>T (p.Cys53=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189423G>C | CA387461757 | GJB2 | c.159C>G (p.Cys53Trp) | gnomAD v4 |