Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189423G>C | CA387461757 | GJB2 | c.159C>G (p.Cys53Trp) | gnomAD v4 |
13 | g.20189423G= | CA2077140152 | GJB2 | c.159C= (p.Cys53=) | |
13 | g.20189423G>T | CA387461758 | GJB2 | c.159C>A (p.Cys53Ter) | |
13 | g.20189424C>A | CA387461760 | GJB2 | c.158G>T (p.Cys53Phe) | ClinVar dbSNP |
13 | g.20189424C= | CA2077140157 | GJB2 | c.158G= (p.Cys53=) | |
13 | g.20189424C>G | CA387461762 | GJB2 | c.158G>C (p.Cys53Ser) | |
13 | g.20189424C>T | CA172215 | GJB2 | c.158G>A (p.Cys53Tyr) | ClinVar dbSNP gnomAD v4 |
13 | g.20189426_20189429del | CA2695217720 | GJB2 | c.155_158del (p.Val52AlafsTer29) | ClinVar |
13 | g.20189425A= | CA2077140165 | GJB2 | c.157T= (p.Cys53=) | |
13 | g.20189425A>C | CA387461764 | GJB2 | c.157T>G (p.Cys53Gly) | |
13 | g.20189425A>G | CA387461766 | GJB2 | c.157T>C (p.Cys53Arg) | ClinVar dbSNP gnomAD v4 |
13 | g.20189425A>T | CA387461767 | GJB2 | c.157T>A (p.Cys53Ser) | ClinVar dbSNP |
13 | g.20189426G>A | CA483153860 | GJB2 | c.156C>T (p.Val52=) | |
13 | g.20189426G>C | CA483153858 | GJB2 | c.156C>G (p.Val52=) | |
13 | g.20189426G>T | CA483153859 | GJB2 | c.156C>A (p.Val52=) | |
13 | g.20189427A>C | CA387461769 | GJB2 | c.155T>G (p.Val52Gly) | |
13 | g.20189427A>G | CA387461771 | GJB2 | c.155T>C (p.Val52Ala) | |
13 | g.20189427A>T | CA387461773 | GJB2 | c.155T>A (p.Val52Asp) | |
13 | g.20189428C>A | CA387461776 | GJB2 | c.154G>T (p.Val52Phe) | |
13 | g.20189428C= | CA2077140174 | GJB2 | c.154G= (p.Val52=) | |
13 | g.20189428C>G | CA6904310 | GJB2 | c.154G>C (p.Val52Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189428C>T | CA387461774 | GJB2 | c.154G>A (p.Val52Ile) | |
13 | g.20189428_20189430delinsCAA | CA2077140172 | GJB2 | c.152_154delinsTTG (p.Phe51=) | |
13 | g.20189429A>C | CA387461778 | GJB2 | c.153T>G (p.Phe51Leu) | |
13 | g.20189429A>G | CA483153861 | GJB2 | c.153T>C (p.Phe51=) | |
13 | g.20189429A>T | CA387461779 | GJB2 | c.153T>A (p.Phe51Leu) | |
13 | g.20189431del | CA2622252304 | GJB2 | c.153del (p.Phe51LeufsTer?) | gnomAD v4 |