| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189156G>A | CA483153967 | GJB2 | c.426C>T (p.Phe142=) | gnomAD v4 |
| 13 | g.20189156G>C | CA387461170 | GJB2 | c.426C>G (p.Phe142Leu) | |
| 13 | g.20189156G= | CA2077139248 | GJB2 | c.426C= (p.Phe142=) | |
| 13 | g.20189156G>T | CA261647 | GJB2 | c.426C>A (p.Phe142Leu) | ClinVar dbSNP |
| 13 | g.20189161_20189163del | CA2580614612 | GJB2 | c.424_426del (p.Phe142del) | ClinVar |
| 13 | g.20189157A= | CA2077139253 | GJB2 | c.425T= (p.Phe142=) | |
| 13 | g.20189157A>C | CA387461171 | GJB2 | c.425T>G (p.Phe142Cys) | gnomAD v4 |
| 13 | g.20189157A>G | CA6904271 | GJB2 | c.425T>C (p.Phe142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189157A>T | CA387461172 | GJB2 | c.425T>A (p.Phe142Tyr) | |
| 13 | g.20189158A>C | CA387461174 | GJB2 | c.424T>G (p.Phe142Val) | |
| 13 | g.20189158A>G | CA387461175 | GJB2 | c.424T>C (p.Phe142Leu) | |
| 13 | g.20189158A>T | CA387461173 | GJB2 | c.424T>A (p.Phe142Ile) | |
| 13 | g.20189159G>A | CA483153968 | GJB2 | c.423C>T (p.Phe141=) | ClinVar gnomAD v4 |
| 13 | g.20189159G>C | CA387461176 | GJB2 | c.423C>G (p.Phe141Leu) | COSMIC |
| 13 | g.20189159G>T | CA387461177 | GJB2 | c.423C>A (p.Phe141Leu) | |
| 13 | g.20189160A>C | CA387461178 | GJB2 | c.422T>G (p.Phe141Cys) | |
| 13 | g.20189160A>G | CA387461179 | GJB2 | c.422T>C (p.Phe141Ser) | |
| 13 | g.20189160A>T | CA387461180 | GJB2 | c.422T>A (p.Phe141Tyr) | |
| 13 | g.20189161A>C | CA387461181 | GJB2 | c.421T>G (p.Phe141Val) | |
| 13 | g.20189161A>G | CA387461182 | GJB2 | c.421T>C (p.Phe141Leu) | |
| 13 | g.20189161A>T | CA387461183 | GJB2 | c.421T>A (p.Phe141Ile) | |
| 13 | g.20189162G>A | CA483153969 | GJB2 | c.420C>T (p.Ile140=) | ClinVar dbSNP gnomAD v4 COSMIC |
| 13 | g.20189162G>C | CA387461184 | GJB2 | c.420C>G (p.Ile140Met) | |
| 13 | g.20189162G= | CA2077139258 | GJB2 | c.420C= (p.Ile140=) | |
| 13 | g.20189162G>T | CA483153970 | GJB2 | c.420C>A (p.Ile140=) | dbSNP gnomAD v2 |
| 13 | g.20189163A>C | CA387461185 | GJB2 | c.419T>G (p.Ile140Ser) | ClinVar |
| 13 | g.20189163A>G | CA387461186 | GJB2 | c.419T>C (p.Ile140Thr) | |
| 13 | g.20189163A>T | CA387461187 | GJB2 | c.419T>A (p.Ile140Asn) | |
| 13 | g.20189164T>A | CA387461190 | GJB2 | c.418A>T (p.Ile140Phe) | |
| 13 | g.20189164T>C | CA387461188 | GJB2 | c.418A>G (p.Ile140Val) | |
| 13 | g.20189164T>G | CA387461189 | GJB2 | c.418A>C (p.Ile140Leu) | |
| 13 | g.20189165G>A | CA483153971 | GJB2 | c.417C>T (p.Ser139=) | |
| 13 | g.20189165G>C | CA387461191 | GJB2 | c.417C>G (p.Ser139Arg) | |
| 13 | g.20189165G>T | CA387461192 | GJB2 | c.417C>A (p.Ser139Arg) | |
| 13 | g.20189166C>A | CA387461193 | GJB2 | c.416G>T (p.Ser139Ile) | |
| 13 | g.20189166C= | CA2077139263 | GJB2 | c.416G= (p.Ser139=) | |
| 13 | g.20189166C>G | CA387461194 | GJB2 | c.416G>C (p.Ser139Thr) | |
| 13 | g.20189166C>T | CA172232 | GJB2 | c.416G>A (p.Ser139Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189167T>A | CA387461195 | GJB2 | c.415A>T (p.Ser139Cys) | ClinVar dbSNP |
| 13 | g.20189167T>C | CA387461196 | GJB2 | c.415A>G (p.Ser139Gly) | |
| 13 | g.20189167T>G | CA387461197 | GJB2 | c.415A>C (p.Ser139Arg) | |
| 13 | g.20189167T= | CA2077139269 | GJB2 | c.415A= (p.Ser139=) | |
| 13 | g.20189168G>A | CA483153972 | GJB2 | c.414C>T (p.Ser138=) | |
| 13 | g.20189168G>C | CA387461198 | GJB2 | c.414C>G (p.Ser138Arg) | |
| 13 | g.20189168G>T | CA387461199 | GJB2 | c.414C>A (p.Ser138Arg) | |
| 13 | g.20189169C>A | CA387461202 | GJB2 | c.413G>T (p.Ser138Ile) | |
| 13 | g.20189169C>G | CA387461201 | GJB2 | c.413G>C (p.Ser138Thr) | |
| 13 | g.20189169C>T | CA387461200 | GJB2 | c.413G>A (p.Ser138Asn) | gnomAD v4 |
| 13 | g.20189170T>A | CA387461203 | GJB2 | c.412A>T (p.Ser138Cys) | |
| 13 | g.20189170T>C | CA134971 | GJB2 | c.412A>G (p.Ser138Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |