| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224411T>A | CA413503614 | GJB1 | c.704T>A (p.Phe235Tyr) | |
| X | g.71224411T>C | CA413503616 | GJB1 | c.704T>C (p.Phe235Ser) | |
| X | g.71224411T>G | CA340976 | GJB1 | c.704T>G (p.Phe235Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224411T= | CA2436388545 | GJB1 | c.704T= (p.Phe235=) | |
| X | g.71224412C>A | CA413503620 | GJB1 | c.705C>A (p.Phe235Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71224412C= | CA2436388546 | GJB1 | c.705C= (p.Phe235=) | |
| X | g.71224412C>G | CA413503623 | GJB1 | c.705C>G (p.Phe235Leu) | |
| X | g.71224412C>T | CA10445336 | GJB1 | c.705C>T (p.Phe235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224413G>A | CA413503628 | GJB1 | c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224413G>C | CA413503631 | GJB1 | c.706G>C (p.Gly236Arg) | |
| X | g.71224413G= | CA2436388547 | GJB1 | c.706G= (p.Gly236=) | |
| X | g.71224413G>T | CA413503627 | GJB1 | c.706G>T (p.Gly236Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224414G>A | CA413503633 | GJB1 | c.707G>A (p.Gly236Asp) | |
| X | g.71224414G>C | CA413503635 | GJB1 | c.707G>C (p.Gly236Ala) | |
| X | g.71224414G>T | CA413503637 | GJB1 | c.707G>T (p.Gly236Val) | |
| X | g.71224415C>A | CA516821184 | GJB1 | c.708C>A (p.Gly236=) | gnomAD v4 |
| X | g.71224415C= | CA2436388548 | GJB1 | c.708C= (p.Gly236=) | |
| X | g.71224415C>G | CA516821185 | GJB1 | c.708C>G (p.Gly236=) | |
| X | g.71224415C>T | CA516821186 | GJB1 | c.708C>T (p.Gly236=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224416C>A | CA413503639 | GJB1 | c.709C>A (p.His237Asn) | |
| X | g.71224416C>G | CA413503642 | GJB1 | c.709C>G (p.His237Asp) | |
| X | g.71224416C>T | CA413503644 | GJB1 | c.709C>T (p.His237Tyr) | gnomAD v4 |
| X | g.71224417A>C | CA413503647 | GJB1 | c.710A>C (p.His237Pro) | |
| X | g.71224417A>G | CA413503650 | GJB1 | c.710A>G (p.His237Arg) | |
| X | g.71224417A>T | CA413503648 | GJB1 | c.710A>T (p.His237Leu) | |
| X | g.71224418C>A | CA413503652 | GJB1 | c.711C>A (p.His237Gln) | |
| X | g.71224418C>G | CA413503654 | GJB1 | c.711C>G (p.His237Gln) | gnomAD v4 |
| X | g.71224418C>T | CA516821189 | GJB1 | c.711C>T (p.His237=) | ClinVar gnomAD v4 |
| X | g.71224419C>A | CA413503656 | GJB1 | c.712C>A (p.Arg238Ser) | gnomAD v4 |
| X | g.71224419C= | CA2436388549 | GJB1 | c.712C= (p.Arg238=) | |
| X | g.71224419C>G | CA413503658 | GJB1 | c.712C>G (p.Arg238Gly) | |
| X | g.71224419C>T | CA10445337 | GJB1 | c.712C>T (p.Arg238Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>A | CA10445338 | GJB1 | c.713G>A (p.Arg238His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>C | CA413503666 | GJB1 | c.713G>C (p.Arg238Pro) | |
| X | g.71224420G= | CA2436388550 | GJB1 | c.713G= (p.Arg238=) | |
| X | g.71224420G>T | CA413503663 | GJB1 | c.713G>T (p.Arg238Leu) | ClinVar dbSNP |
| X | g.71224421C>A | CA516821193 | GJB1 | c.714C>A (p.Arg238=) | |
| X | g.71224421C>G | CA516821192 | GJB1 | c.714C>G (p.Arg238=) | |
| X | g.71224421C>T | CA516821191 | GJB1 | c.714C>T (p.Arg238=) | |
| X | g.71224422C>A | CA413503669 | GJB1 | c.715C>A (p.Leu239Ile) | ClinVar dbSNP |
| X | g.71224422C= | CA2436388551 | GJB1 | c.715C= (p.Leu239=) | |
| X | g.71224422C>G | CA413503668 | GJB1 | c.715C>G (p.Leu239Val) | |
| X | g.71224422C>T | CA413503670 | GJB1 | c.715C>T (p.Leu239Phe) | gnomAD v4 |
| X | g.71224423T>A | CA413503674 | GJB1 | c.716T>A (p.Leu239His) | |
| X | g.71224423T>C | CA10445339 | GJB1 | c.716T>C (p.Leu239Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224423T>G | CA413503678 | GJB1 | c.716T>G (p.Leu239Arg) | |
| X | g.71224423T= | CA2436388552 | GJB1 | c.716T= (p.Leu239=) | |
| X | g.71224424C>A | CA516821198 | GJB1 | c.717C>A (p.Leu239=) | |
| X | g.71224424C>G | CA516821196 | GJB1 | c.717C>G (p.Leu239=) | ClinVar dbSNP |
| X | g.71224424C>T | CA516821194 | GJB1 | c.717C>T (p.Leu239=) |