| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223715G>A | CA413499283 | GJB1 | c.8G>A (p.Trp3Ter) | ClinVar dbSNP |
| X | g.71223715G>C | CA413499286 | GJB1 | c.8G>C (p.Trp3Ser) | ClinVar dbSNP |
| X | g.71223715G= | CA2436388080 | GJB1 | c.8G= (p.Trp3=) | |
| X | g.71223715G>T | CA413499288 | GJB1 | c.8G>T (p.Trp3Leu) | |
| X | g.71223716G>A | CA338521 | GJB1 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
| X | g.71223716G>C | CA413499293 | GJB1 | c.9G>C (p.Trp3Cys) | |
| X | g.71223716G= | CA2436388081 | GJB1 | c.9G= (p.Trp3=) | |
| X | g.71223716G>T | CA413499292 | GJB1 | c.9G>T (p.Trp3Cys) | |
| X | g.71223717A>C | CA413499296 | GJB1 | c.10A>C (p.Thr4Pro) | |
| X | g.71223717A>G | CA413499299 | GJB1 | c.10A>G (p.Thr4Ala) | |
| X | g.71223717A>T | CA413499302 | GJB1 | c.10A>T (p.Thr4Ser) | |
| X | g.71223718C>A | CA413499304 | GJB1 | c.11C>A (p.Thr4Lys) | ClinVar dbSNP |
| X | g.71223718C= | CA2436388082 | GJB1 | c.11C= (p.Thr4=) | |
| X | g.71223718C>G | CA413499306 | GJB1 | c.11C>G (p.Thr4Arg) | |
| X | g.71223718C>T | CA413499309 | GJB1 | c.11C>T (p.Thr4Ile) | |
| X | g.71223719A>C | CA516718338 | GJB1 | c.12A>C (p.Thr4=) | |
| X | g.71223719A>G | CA516718349 | GJB1 | c.12A>G (p.Thr4=) | |
| X | g.71223719A>T | CA516718342 | GJB1 | c.12A>T (p.Thr4=) | |
| X | g.71223720G>A | CA413499312 | GJB1 | c.13G>A (p.Gly5Ser) | ClinVar dbSNP |
| X | g.71223720G>C | CA413499315 | GJB1 | c.13G>C (p.Gly5Arg) | |
| X | g.71223720G= | CA2436388083 | GJB1 | c.13G= (p.Gly5=) | |
| X | g.71223720G>T | CA413499317 | GJB1 | c.13G>T (p.Gly5Cys) | COSMIC |
| X | g.71223721G>A | CA413499321 | GJB1 | c.14G>A (p.Gly5Asp) | |
| X | g.71223721G>C | CA413499323 | GJB1 | c.14G>C (p.Gly5Ala) | |
| X | g.71223721G= | CA2436388084 | GJB1 | c.14G= (p.Gly5=) | |
| X | g.71223721G>T | CA16621491 | GJB1 | c.14G>T (p.Gly5Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223722T>A | CA516718369 | GJB1 | c.15T>A (p.Gly5=) | |
| X | g.71223722T>C | CA516718372 | GJB1 | c.15T>C (p.Gly5=) | |
| X | g.71223722T>G | CA516718375 | GJB1 | c.15T>G (p.Gly5=) | |
| X | g.71223723T>A | CA413499325 | GJB1 | c.16T>A (p.Leu6Met) | |
| X | g.71223723T>C | CA516718383 | GJB1 | c.16T>C (p.Leu6=) | gnomAD v4 |
| X | g.71223723T>G | CA413499328 | GJB1 | c.16T>G (p.Leu6Val) | |
| X | g.71223724T>A | CA413499330 | GJB1 | c.17T>A (p.Leu6Ter) | |
| X | g.71223724T>C | CA413499331 | GJB1 | c.17T>C (p.Leu6Ser) | ClinVar dbSNP |
| X | g.71223724T>G | CA413499334 | GJB1 | c.17T>G (p.Leu6Trp) | |
| X | g.71223724T= | CA2436388085 | GJB1 | c.17T= (p.Leu6=) | |
| X | g.71223725G>A | CA516718392 | GJB1 | c.18G>A (p.Leu6=) | |
| X | g.71223725G>C | CA413499337 | GJB1 | c.18G>C (p.Leu6Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223725G= | CA2436388086 | GJB1 | c.18G= (p.Leu6=) | |
| X | g.71223725G>T | CA413499339 | GJB1 | c.18G>T (p.Leu6Phe) | |
| X | g.71223726T>A | CA413499340 | GJB1 | c.19T>A (p.Tyr7Asn) | |
| X | g.71223726T>C | CA413499344 | GJB1 | c.19T>C (p.Tyr7His) | gnomAD v4 |
| X | g.71223726T>G | CA413499346 | GJB1 | c.19T>G (p.Tyr7Asp) | |
| X | g.71223727A= | CA2436388087 | GJB1 | c.20A= (p.Tyr7=) | |
| X | g.71223727A>C | CA413499371 | GJB1 | c.20A>C (p.Tyr7Ser) | |
| X | g.71223727A>G | CA413499374 | GJB1 | c.20A>G (p.Tyr7Cys) | ClinVar dbSNP |
| X | g.71223727A>T | CA413499376 | GJB1 | c.20A>T (p.Tyr7Phe) | |
| X | g.71223727_71223729del | CA2695234554 | GJB1 | c.20_22del (p.Tyr7_Thr8delinsSer) | |
| X | g.71223728C>A | CA413499380 | GJB1 | c.21C>A (p.Tyr7Ter) | ClinVar |