Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189312T>A | CA483153763 | GJB2 | c.270A>T (p.Leu90=) | |
13 | g.20189312T>C | CA483153764 | GJB2 | c.270A>G (p.Leu90=) | dbSNP gnomAD v4 |
13 | g.20189312T>G | CA483153765 | GJB2 | c.270A>C (p.Leu90=) | |
13 | g.20189312T= | CA2077139689 | GJB2 | c.270A= (p.Leu90=) | |
13 | g.20189313del | CA2695217711 | GJB2 | c.269del (p.Leu90GlnfsTer22) | |
13 | g.20189313A= | CA2077139698 | GJB2 | c.269T= (p.Leu90=) | |
13 | g.20189313A>C | CA387461505 | GJB2 | c.269T>G (p.Leu90Arg) | |
13 | g.20189313A>G | CA172219 | GJB2 | c.269T>C (p.Leu90Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189313A>T | CA387461506 | GJB2 | c.269T>A (p.Leu90Gln) | |
13 | g.20189313dup | CA273448 | GJB2 | c.269dup (p.Val91SerfsTer11) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315_20189336del | CA2622252297 | GJB2 | c.248_269del (p.Phe83Ter) | gnomAD v4 |
13 | g.20189314G>A | CA483153766 | GJB2 | c.268C>T (p.Leu90=) | ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189314G>C | CA387461507 | GJB2 | c.268C>G (p.Leu90Val) | |
13 | g.20189314G= | CA2077139706 | GJB2 | c.268C= (p.Leu90=) | |
13 | g.20189314G>T | CA387461508 | GJB2 | c.268C>A (p.Leu90Ile) | |
13 | g.20189315del | CA2499221953 | GJB2 | c.268del (p.Leu90Ter) | ClinVar dbSNP |
13 | g.20189315G>A | CA483153767 | GJB2 | c.267C>T (p.Leu89=) | dbSNP gnomAD v4 |
13 | g.20189315G>C | CA176160 | GJB2 | c.267C>G (p.Leu89=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189315G= | CA2077139709 | GJB2 | c.267C= (p.Leu89=) | |
13 | g.20189315G>T | CA483153768 | GJB2 | c.267C>A (p.Leu89=) | ClinVar |
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) |