Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter) | gnomAD v4 |
13 | g.20189316A= | CA2077139714 | GJB2 | c.266T= (p.Leu89=) | |
13 | g.20189316A>C | CA387461509 | GJB2 | c.266T>G (p.Leu89Arg) | |
13 | g.20189316A>G | CA387461510 | GJB2 | c.266T>C (p.Leu89Pro) | ClinVar dbSNP |
13 | g.20189316A>T | CA387461511 | GJB2 | c.266T>A (p.Leu89His) | dbSNP gnomAD v4 |
13 | g.20189317G>A | CA6904293 | GJB2 | c.265C>T (p.Leu89Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189317G>C | CA387461512 | GJB2 | c.265C>G (p.Leu89Val) | |
13 | g.20189317G= | CA2077139717 | GJB2 | c.265C= (p.Leu89=) | |
13 | g.20189317G>T | CA387461513 | GJB2 | c.265C>A (p.Leu89Ile) | |
13 | g.20189318C>A | CA483153769 | GJB2 | c.264G>T (p.Ala88=) | |
13 | g.20189318C= | CA2077139720 | GJB2 | c.264G= (p.Ala88=) | |
13 | g.20189318C>G | CA6904295 | GJB2 | c.264G>C (p.Ala88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189318C>T | CA6904294 | GJB2 | c.264G>A (p.Ala88=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189319G>A | CA387461514 | GJB2 | c.263C>T (p.Ala88Val) | ClinVar dbSNP |
13 | g.20189319G>C | CA387461516 | GJB2 | c.263C>G (p.Ala88Gly) | ClinVar dbSNP |
13 | g.20189319G= | CA2077139726 | GJB2 | c.263C= (p.Ala88=) | |
13 | g.20189319G>T | CA387461515 | GJB2 | c.263C>A (p.Ala88Glu) | ClinVar dbSNP |
13 | g.20189320C>A | CA387461517 | GJB2 | c.262G>T (p.Ala88Ser) | gnomAD v4 |
13 | g.20189320C= | CA2077139729 | GJB2 | c.262G= (p.Ala88=) | |
13 | g.20189320C>G | CA387461518 | GJB2 | c.262G>C (p.Ala88Pro) | |
13 | g.20189320C>T | CA387461519 | GJB2 | c.262G>A (p.Ala88Thr) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189321T>A | CA483153770 | GJB2 | c.261A>T (p.Pro87=) | |
13 | g.20189321T>C | CA483153771 | GJB2 | c.261A>G (p.Pro87=) | |
13 | g.20189321T>G | CA483153772 | GJB2 | c.261A>C (p.Pro87=) | |
13 | g.20189322G>A | CA387461520 | GJB2 | c.260C>T (p.Pro87Leu) | ClinVar dbSNP |
13 | g.20189322G>C | CA387461521 | GJB2 | c.260C>G (p.Pro87Arg) | |
13 | g.20189322G= | CA2077139733 | GJB2 | c.260C= (p.Pro87=) | |
13 | g.20189322G>T | CA387461522 | GJB2 | c.260C>A (p.Pro87Gln) | |
13 | g.20189323_20189325del | CA2695217712 | GJB2 | c.258_260del (p.Pro87del) | |
13 | g.20189323G>A | CA387461523 | GJB2 | c.259C>T (p.Pro87Ser) | |
13 | g.20189323G>C | CA387461524 | GJB2 | c.259C>G (p.Pro87Ala) | |
13 | g.20189323G>T | CA387461525 | GJB2 | c.259C>A (p.Pro87Thr) | |
13 | g.20189324_20189325del | CA912980096 | GJB2 | c.258_259del (p.Pro87SerfsTer14) | |
13 | g.20189324C>A | CA246460540 | GJB2 | c.258G>T (p.Thr86=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189324C= | CA2077139735 | GJB2 | c.258G= (p.Thr86=) | |
13 | g.20189324C>G | CA483153773 | GJB2 | c.258G>C (p.Thr86=) | |
13 | g.20189324C>T | CA6904296 | GJB2 | c.258G>A (p.Thr86=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189324_20189325delinsCG | CA2077139737 | GJB2 | c.257_258delinsCG (p.Thr86=) | |
13 | g.20189325del | CA658823467 | GJB2 | c.257del (p.Thr86SerfsTer5) | ClinVar dbSNP |
13 | g.20189325G>A | CA387461528 | GJB2 | c.257C>T (p.Thr86Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G>C | CA387461527 | GJB2 | c.257C>G (p.Thr86Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189325G= | CA2077139745 | GJB2 | c.257C= (p.Thr86=) | |
13 | g.20189325G>T | CA387461526 | GJB2 | c.257C>A (p.Thr86Lys) | |
13 | g.20189326T>A | CA387461529 | GJB2 | c.256A>T (p.Thr86Ser) | |
13 | g.20189326T>C | CA387461530 | GJB2 | c.256A>G (p.Thr86Ala) | ClinVar |
13 | g.20189326T>G | CA387461531 | GJB2 | c.256A>C (p.Thr86Pro) | |
13 | g.20189327G>A | CA483153774 | GJB2 | c.255C>T (p.Ser85=) | ClinVar |
13 | g.20189327G>C | CA483153775 | GJB2 | c.255C>G (p.Ser85=) | |
13 | g.20189327G>T | CA483153776 | GJB2 | c.255C>A (p.Ser85=) | |
13 | g.20189328G>A | CA387461532 | GJB2 | c.254C>T (p.Ser85Phe) | COSMIC |