| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.20189563G>A | CA261641 | GJB2 | c.19C>T (p.Gln7Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20189563G>C | CA387462262 | GJB2 | c.19C>G (p.Gln7Glu) | |
| 13 | g.20189563G= | CA2077110044 | GJB2 | c.19C= (p.Gln7=) | |
| 13 | g.20189563G>T | CA387462263 | GJB2 | c.19C>A (p.Gln7Lys) | |
| 13 | g.20189564C>A | CA483154055 | GJB2 | c.18G>T (p.Leu6=) | gnomAD v4 |
| 13 | g.20189564C>G | CA483154057 | GJB2 | c.18G>C (p.Leu6=) | |
| 13 | g.20189564C>T | CA483154056 | GJB2 | c.18G>A (p.Leu6=) | |
| 13 | g.20189565A>C | CA387462264 | GJB2 | c.17T>G (p.Leu6Arg) | |
| 13 | g.20189565A>G | CA387462265 | GJB2 | c.17T>C (p.Leu6Pro) | |
| 13 | g.20189565A>T | CA387462266 | GJB2 | c.17T>A (p.Leu6Gln) | |
| 13 | g.20189566G>A | CA483154058 | GJB2 | c.16C>T (p.Leu6=) | |
| 13 | g.20189566G>C | CA387462267 | GJB2 | c.16C>G (p.Leu6Val) | |
| 13 | g.20189566G>T | CA387462268 | GJB2 | c.16C>A (p.Leu6Met) | |
| 13 | g.20189567C>A | CA483154059 | GJB2 | c.15G>T (p.Thr5=) | |
| 13 | g.20189567C= | CA2077110051 | GJB2 | c.15G= (p.Thr5=) | |
| 13 | g.20189567C>G | CA483154060 | GJB2 | c.15G>C (p.Thr5=) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189567C>T | CA6904333 | GJB2 | c.15G>A (p.Thr5=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189568G>A | CA6904334 | GJB2 | c.14C>T (p.Thr5Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189568G>C | CA387462269 | GJB2 | c.14C>G (p.Thr5Arg) | |
| 13 | g.20189568G= | CA2077110061 | GJB2 | c.14C= (p.Thr5=) | |
| 13 | g.20189568G>T | CA387462270 | GJB2 | c.14C>A (p.Thr5Lys) | |
| 13 | g.20189569T>A | CA387462271 | GJB2 | c.13A>T (p.Thr5Ser) | |
| 13 | g.20189569T>C | CA387462272 | GJB2 | c.13A>G (p.Thr5Ala) | |
| 13 | g.20189569T>G | CA387462273 | GJB2 | c.13A>C (p.Thr5Pro) | |
| 13 | g.20189570G>A | CA483154061 | GJB2 | c.12C>T (p.Gly4=) | COSMIC |
| 13 | g.20189570G>C | CA483154062 | GJB2 | c.12C>G (p.Gly4=) | |
| 13 | g.20189570G>T | CA483154063 | GJB2 | c.12C>A (p.Gly4=) | |
| 13 | g.20189570_20189571delinsGC | CA2077110069 | GJB2 | c.11_12delinsGC (p.Gly4=) | |
| 13 | g.20189571C>A | CA6904335 | GJB2 | c.11G>T (p.Gly4Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20189571C= | CA2077110082 | GJB2 | c.11G= (p.Gly4=) | |
| 13 | g.20189571C>G | CA387462274 | GJB2 | c.11G>C (p.Gly4Ala) | |
| 13 | g.20189571C>T | CA134947 | GJB2 | c.11G>A (p.Gly4Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20189574del | CA483154064 | GJB2 | c.11del (p.Gly4AlafsTer10) | ClinVar dbSNP gnomAD v4 |
| 13 | g.20189572C>A | CA387462275 | GJB2 | c.10G>T (p.Gly4Cys) | |
| 13 | g.20189572C= | CA2077110089 | GJB2 | c.10G= (p.Gly4=) | |
| 13 | g.20189572C>G | CA387462276 | GJB2 | c.10G>C (p.Gly4Arg) | |
| 13 | g.20189572C>T | CA387462277 | GJB2 | c.10G>A (p.Gly4Ser) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20189573C>A | CA387462278 | GJB2 | c.9G>T (p.Trp3Cys) | ClinVar dbSNP |
| 13 | g.20189573C= | CA2077110092 | GJB2 | c.9G= (p.Trp3=) | |
| 13 | g.20189573C>G | CA387462279 | GJB2 | c.9G>C (p.Trp3Cys) | |
| 13 | g.20189573C>T | CA261655 | GJB2 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
| 13 | g.20189574C>A | CA387462280 | GJB2 | c.8G>T (p.Trp3Leu) | |
| 13 | g.20189574C>G | CA387462281 | GJB2 | c.8G>C (p.Trp3Ser) | ClinVar |
| 13 | g.20189574C>T | CA387462282 | GJB2 | c.8G>A (p.Trp3Ter) | |
| 13 | g.20189575A>C | CA387462283 | GJB2 | c.7T>G (p.Trp3Gly) | |
| 13 | g.20189575A>G | CA387462284 | GJB2 | c.7T>C (p.Trp3Arg) | |
| 13 | g.20189575A>T | CA387462285 | GJB2 | c.7T>A (p.Trp3Arg) | |
| 13 | g.20189576dup | CA2695217730 | GJB2 | c.7dup (p.Trp3LeufsTer?) | |
| 13 | g.20189576A= | CA2077110104 | GJB2 | c.6T= (p.Asp2=) | |
| 13 | g.20189576A>C | CA387462287 | GJB2 | c.6T>G (p.Asp2Glu) |