Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223944G>A | CA516821330 | GJB1 | c.237G>A (p.Leu79=) | gnomAD v4 |
X | g.71223944G>C | CA516821331 | GJB1 | c.237G>C (p.Leu79=) | |
X | g.71223944G>T | CA516821332 | GJB1 | c.237G>T (p.Leu79=) | |
X | g.71223945C>A | CA413501616 | GJB1 | c.238C>A (p.Gln80Lys) | ClinVar dbSNP |
X | g.71223945C= | CA2436388243 | GJB1 | c.238C= (p.Gln80=) | |
X | g.71223945C>G | CA413501618 | GJB1 | c.238C>G (p.Gln80Glu) | |
X | g.71223945C>T | CA413501620 | GJB1 | c.238C>T (p.Gln80Ter) | ClinVar dbSNP |
X | g.71223946A= | CA2436388244 | GJB1 | c.239A= (p.Gln80=) | |
X | g.71223946A>C | CA413501623 | GJB1 | c.239A>C (p.Gln80Pro) | |
X | g.71223946A>G | CA10584637 | GJB1 | c.239A>G (p.Gln80Arg) | ClinVar dbSNP |
X | g.71223946A>T | CA413501621 | GJB1 | c.239A>T (p.Gln80Leu) | |
X | g.71223947G>A | CA516821333 | GJB1 | c.240G>A (p.Gln80=) | |
X | g.71223947G>C | CA413501625 | GJB1 | c.240G>C (p.Gln80His) | |
X | g.71223947G>T | CA413501626 | GJB1 | c.240G>T (p.Gln80His) | ClinVar |
X | g.71223948C>A | CA413501628 | GJB1 | c.241C>A (p.Leu81Ile) | |
X | g.71223948C= | CA2436388245 | GJB1 | c.241C= (p.Leu81=) | |
X | g.71223948C>G | CA10577655 | GJB1 | c.241C>G (p.Leu81Val) | ClinVar dbSNP |
X | g.71223948C>T | CA413501630 | GJB1 | c.241C>T (p.Leu81Phe) | ClinVar dbSNP |
X | g.71223949T>A | CA413501632 | GJB1 | c.242T>A (p.Leu81His) | ClinVar dbSNP |
X | g.71223949T>C | CA413501635 | GJB1 | c.242T>C (p.Leu81Pro) | |
X | g.71223949T>G | CA413501633 | GJB1 | c.242T>G (p.Leu81Arg) | |
X | g.71223949T= | CA2436388246 | GJB1 | c.242T= (p.Leu81=) | |
X | g.71223950C>A | CA516821334 | GJB1 | c.243C>A (p.Leu81=) | |
X | g.71223950C= | CA2436388247 | GJB1 | c.243C= (p.Leu81=) | |
X | g.71223950C>G | CA516821335 | GJB1 | c.243C>G (p.Leu81=) | |
X | g.71223950C>T | CA10445285 | GJB1 | c.243C>T (p.Leu81=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71223951A= | CA2436388248 | GJB1 | c.244A= (p.Ile82=) | |
X | g.71223951A>C | CA413501638 | GJB1 | c.244A>C (p.Ile82Leu) | ClinVar |
X | g.71223951A>G | CA413501639 | GJB1 | c.244A>G (p.Ile82Val) | ClinVar dbSNP |
X | g.71223951A>T | CA413501640 | GJB1 | c.244A>T (p.Ile82Phe) | |
X | g.71223952T>A | CA413501642 | GJB1 | c.245T>A (p.Ile82Asn) | ClinVar dbSNP |
X | g.71223952T>C | CA413501643 | GJB1 | c.245T>C (p.Ile82Thr) | |
X | g.71223952T>G | CA413501644 | GJB1 | c.245T>G (p.Ile82Ser) | |
X | g.71223953C>A | CA516821336 | GJB1 | c.246C>A (p.Ile82=) | |
X | g.71223953C= | CA2436388249 | GJB1 | c.246C= (p.Ile82=) | |
X | g.71223953C>G | CA413501646 | GJB1 | c.246C>G (p.Ile82Met) | ClinVar dbSNP |
X | g.71223953C>T | CA516821337 | GJB1 | c.246C>T (p.Ile82=) | |
X | g.71223953_71223963delinsCCTAGTTTCCA | CA2436388250 | GJB1 | c.246_256delinsCCTAGTTTCCA (p.Ile82=) | |
X | g.71223954C>A | CA413501647 | GJB1 | c.247C>A (p.Leu83Ile) | |
X | g.71223954C>G | CA413501648 | GJB1 | c.247C>G (p.Leu83Val) | ClinVar |
X | g.71223954C>T | CA516821338 | GJB1 | c.247C>T (p.Leu83=) | gnomAD v4 |
X | g.71223955_71223964del | CA915951187 | GJB1 | c.248_257del (p.Leu83ProfsTer16) | ClinVar dbSNP |
X | g.71223955T>A | CA413501651 | GJB1 | c.248T>A (p.Leu83Gln) | |
X | g.71223955T>C | CA413501654 | GJB1 | c.248T>C (p.Leu83Pro) | ClinVar dbSNP |
X | g.71223955T>G | CA413501652 | GJB1 | c.248T>G (p.Leu83Arg) | ClinVar dbSNP |
X | g.71223955T= | CA2436388251 | GJB1 | c.248T= (p.Leu83=) | |
X | g.71223956A>C | CA516821339 | GJB1 | c.249A>C (p.Leu83=) | |
X | g.71223956A>G | CA516821340 | GJB1 | c.249A>G (p.Leu83=) | |
X | g.71223956A>T | CA516821341 | GJB1 | c.249A>T (p.Leu83=) | |
X | g.71223957del | CA2573159495 | GJB1 | c.250del (p.Val84PhefsTer18) c.250del (p.Val84PhefsTer?) | ClinVar dbSNP |
X | g.71223957G>A | CA413501655 | GJB1 | c.250G>A (p.Val84Ile) | ClinVar dbSNP |
X | g.71223957G>C | CA413501657 | GJB1 | c.250G>C (p.Val84Leu) | |
X | g.71223957G= | CA2436388252 | GJB1 | c.250G= (p.Val84=) | |
X | g.71223957G>T | CA413501656 | GJB1 | c.250G>T (p.Val84Phe) | |
X | g.71223958T>A | CA413501659 | GJB1 | c.251T>A (p.Val84Asp) | |
X | g.71223958T>C | CA413501661 | GJB1 | c.251T>C (p.Val84Ala) | |
X | g.71223958T>G | CA413501662 | GJB1 | c.251T>G (p.Val84Gly) | ClinVar dbSNP |
X | g.71223958T= | CA2436388253 | GJB1 | c.251T= (p.Val84=) | |
X | g.71223959T>A | CA516821342 | GJB1 | c.252T>A (p.Val84=) | |
X | g.71223959T>C | CA516821343 | GJB1 | c.252T>C (p.Val84=) | |
X | g.71223959T>G | CA516821344 | GJB1 | c.252T>G (p.Val84=) | |
X | g.71223960T>A | CA413501664 | GJB1 | c.253T>A (p.Ser85Thr) c.253T>A | |
X | g.71223960T>C | CA413501666 | GJB1 | c.253T>C (p.Ser85Pro) c.253T>C | |
X | g.71223960T>G | CA413501667 | GJB1 | c.253T>G (p.Ser85Ala) c.253T>G | |
X | g.71223961C>A | CA413501669 | GJB1 | c.254C>A (p.Ser85Tyr) | |
X | g.71223961C= | CA2436388254 | GJB1 | c.254C= (p.Ser85=) | |
X | g.71223961C>G | CA255257 | GJB1 | c.254C>G (p.Ser85Cys) | ClinVar dbSNP COSMIC |
X | g.71223961C>T | CA413501671 | GJB1 | c.254C>T (p.Ser85Phe) | ClinVar dbSNP |
X | g.71223964_71223968del | CA2695234561 | GJB1 | c.257_261del (p.Thr86SerfsTer22) | |
X | g.71223962C>A | CA516821346 | GJB1 | c.255C>A (p.Ser85=) | |
X | g.71223962C>G | CA516821347 | GJB1 | c.255C>G (p.Ser85=) | |
X | g.71223962C>T | CA516821345 | GJB1 | c.255C>T (p.Ser85=) | |
X | g.71223963A= | CA2436388255 | GJB1 | c.256A= (p.Thr86=) | |
X | g.71223963A>C | CA413501676 | GJB1 | c.256A>C (p.Thr86Pro) | |
X | g.71223963A>G | CA413501675 | GJB1 | c.256A>G (p.Thr86Ala) | ClinVar dbSNP |
X | g.71223963A>T | CA413501673 | GJB1 | c.256A>T (p.Thr86Ser) | ClinVar dbSNP |
X | g.71223964C>A | CA413501677 | GJB1 | c.257C>A (p.Thr86Asn) | ClinVar dbSNP |
X | g.71223964C= | CA2436388256 | GJB1 | c.257C= (p.Thr86=) | |
X | g.71223964C>G | CA413501679 | GJB1 | c.257C>G (p.Thr86Ser) | |
X | g.71223964C>T | CA413501681 | GJB1 | c.257C>T (p.Thr86Ile) | ClinVar dbSNP gnomAD v4 |
X | g.71223965C>A | CA10445286 | GJB1 | c.258C>A (p.Thr86=) | dbSNP ExAC |
X | g.71223965C= | CA2436388257 | GJB1 | c.258C= (p.Thr86=) | |
X | g.71223965C>G | CA516821348 | GJB1 | c.258C>G (p.Thr86=) | |
X | g.71223965C>T | CA516821349 | GJB1 | c.258C>T (p.Thr86=) | |
X | g.71223966C>A | CA413501683 | GJB1 | c.259C>A (p.Pro87Thr) | |
X | g.71223966C= | CA2436388258 | GJB1 | c.259C= (p.Pro87=) | |
X | g.71223966C>G | CA270640 | GJB1 | c.259C>G (p.Pro87Ala) | ClinVar dbSNP |
X | g.71223966C>T | CA413501685 | GJB1 | c.259C>T (p.Pro87Ser) | ClinVar dbSNP |
X | g.71223967C>A | CA413501688 | GJB1 | c.260C>A (p.Pro87Gln) | |
X | g.71223967C= | CA2436388259 | GJB1 | c.260C= (p.Pro87=) | |
X | g.71223967C>G | CA413501689 | GJB1 | c.260C>G (p.Pro87Arg) | |
X | g.71223967C>T | CA413501690 | GJB1 | c.260C>T (p.Pro87Leu) | ClinVar dbSNP |
X | g.71223968A= | CA2436388260 | GJB1 | c.261A= (p.Pro87=) | |
X | g.71223968A>C | CA516821350 | GJB1 | c.261A>C (p.Pro87=) | |
X | g.71223968A>G | CA10445287 | GJB1 | c.261A>G (p.Pro87=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71223968A>T | CA516821351 | GJB1 | c.261A>T (p.Pro87=) | |
X | g.71223969G>A | CA413501694 | GJB1 | c.262G>A (p.Ala88Thr) | |
X | g.71223969G>C | CA413501696 | GJB1 | c.262G>C (p.Ala88Pro) | |
X | g.71223969G>T | CA413501693 | GJB1 | c.262G>T (p.Ala88Ser) | |
X | g.71223971_71223987del | CA2573159491 | GJB1 | c.264_280del (p.Leu89ArgfsTer15) | ClinVar dbSNP |
X | g.71223970C>A | CA413501698 | GJB1 | c.263C>A (p.Ala88Asp) | |
X | g.71223970C= | CA2436388261 | GJB1 | c.263C= (p.Ala88=) | |
X | g.71223970C>G | CA413501700 | GJB1 | c.263C>G (p.Ala88Gly) | ClinVar dbSNP |
X | g.71223970C>T | CA413501701 | GJB1 | c.263C>T (p.Ala88Val) | |
X | g.71223971T>A | CA516821352 | GJB1 | c.264T>A (p.Ala88=) | |
X | g.71223971T>C | CA516821353 | GJB1 | c.264T>C (p.Ala88=) | |
X | g.71223971T>G | CA516821354 | GJB1 | c.264T>G (p.Ala88=) | |
X | g.71223972C>A | CA413501702 | GJB1 | c.265C>A (p.Leu89Ile) | |
X | g.71223972C= | CA2436388262 | GJB1 | c.265C= (p.Leu89=) | |
X | g.71223972C>G | CA413501704 | GJB1 | c.265C>G (p.Leu89Val) | ClinVar dbSNP |
X | g.71223972C>T | CA413501705 | GJB1 | c.265C>T (p.Leu89Phe) | |
X | g.71223973T>A | CA413501707 | GJB1 | c.266T>A (p.Leu89His) | |
X | g.71223973T>C | CA413501709 | GJB1 | c.266T>C (p.Leu89Pro) | ClinVar dbSNP |
X | g.71223973T>G | CA413501710 | GJB1 | c.266T>G (p.Leu89Arg) | |
X | g.71223973T= | CA2436388263 | GJB1 | c.266T= (p.Leu89=) | |
X | g.71223974C>A | CA516821355 | GJB1 | c.267C>A (p.Leu89=) | |
X | g.71223974C>G | CA516821356 | GJB1 | c.267C>G (p.Leu89=) | |
X | g.71223974C>T | CA516821357 | GJB1 | c.267C>T (p.Leu89=) | |
X | g.71223975C>A | CA413501712 | GJB1 | c.268C>A (p.Leu90Ile) | ClinVar dbSNP |
X | g.71223975C= | CA2436388264 | GJB1 | c.268C= (p.Leu90=) | |
X | g.71223975C>G | CA413501713 | GJB1 | c.268C>G (p.Leu90Val) | ClinVar dbSNP |
X | g.71223975C>T | CA413501714 | GJB1 | c.268C>T (p.Leu90Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71223976T>A | CA413501720 | GJB1 | c.269T>A (p.Leu90His) | ClinVar dbSNP |
X | g.71223976T>C | CA413501716 | GJB1 | c.269T>C (p.Leu90Pro) | ClinVar dbSNP |
X | g.71223976T>G | CA413501718 | GJB1 | c.269T>G (p.Leu90Arg) | ClinVar |
X | g.71223976T= | CA2436388265 | GJB1 | c.269T= (p.Leu90=) | |
X | g.71223977C>A | CA516821358 | GJB1 | c.270C>A (p.Leu90=) | |
X | g.71223977C= | CA2436388266 | GJB1 | c.270C= (p.Leu90=) | |
X | g.71223977C>G | CA516821359 | GJB1 | c.270C>G (p.Leu90=) | ClinVar dbSNP gnomAD v4 |
X | g.71223977C>T | CA330997712 | GJB1 | c.270C>T (p.Leu90=) | ClinVar dbSNP gnomAD v4 |
X | g.71223978G>A | CA275057 | GJB1 | c.271G>A (p.Val91Met) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.71223978G>C | CA413501722 | GJB1 | c.271G>C (p.Val91Leu) | ClinVar dbSNP |
X | g.71223978G= | CA2436388267 | GJB1 | c.271G= (p.Val91=) | |
X | g.71223978G>T | CA413501723 | GJB1 | c.271G>T (p.Val91Leu) | |
X | g.71223979T>A | CA413501725 | GJB1 | c.272T>A (p.Val91Glu) | ClinVar |
X | g.71223979T>C | CA413501727 | GJB1 | c.272T>C (p.Val91Ala) | ClinVar |
X | g.71223979T>G | CA413501728 | GJB1 | c.272T>G (p.Val91Gly) | ClinVar dbSNP |
X | g.71223979T= | CA2436388268 | GJB1 | c.272T= (p.Val91=) | |
X | g.71223979_71223981delinsTGG | CA2436388269 | GJB1 | c.272_274delinsTGG (p.Val91=) | |
X | g.71223980G>A | CA10445288 | GJB1 | c.273G>A (p.Val91=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71223980G>C | CA516821360 | GJB1 | c.273G>C (p.Val91=) | |
X | g.71223980G= | CA2436388270 | GJB1 | c.273G= (p.Val91=) | |
X | g.71223980G>T | CA516821361 | GJB1 | c.273G>T (p.Val91=) | |
X | g.71223980_71223981del | CA915951188 | GJB1 | c.273_274del (p.Ala92HisfsTer17) | ClinVar dbSNP |
X | g.71223981G>A | CA413501731 | GJB1 | c.274G>A (p.Ala92Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
X | g.71223981G>C | CA413501732 | GJB1 | c.274G>C (p.Ala92Pro) | |
X | g.71223981G= | CA2436388272 | GJB1 | c.274G= (p.Ala92=) | |
X | g.71223981G>T | CA10445289 | GJB1 | c.274G>T (p.Ala92Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71223981_71223983delinsGCC | CA2436388271 | GJB1 | c.274_276delinsGCC (p.Ala92=) | |
X | g.71223982C>A | CA413501735 | GJB1 | c.275C>A (p.Ala92Asp) | |
X | g.71223982C>G | CA413501736 | GJB1 | c.275C>G (p.Ala92Gly) | |
X | g.71223982C>T | CA413501738 | GJB1 | c.275C>T (p.Ala92Val) | |
X | g.71223982_71223983del | CA915951189 | GJB1 | c.275_276del (p.Ala92AspfsTer17) | ClinVar dbSNP |
X | g.71223983C>A | CA516821364 | GJB1 | c.276C>A (p.Ala92=) | |
X | g.71223983C>G | CA516821363 | GJB1 | c.276C>G (p.Ala92=) | |
X | g.71223983C>T | CA516821362 | GJB1 | c.276C>T (p.Ala92=) | |
X | g.71223983_71223985delinsCAT | CA2436388273 | GJB1 | c.276_278delinsCAT (p.Ala92=) | |
X | g.71223984A= | CA2436388274 | GJB1 | c.277A= (p.Met93=) | |
X | g.71223984A>C | CA413501742 | GJB1 | c.277A>C (p.Met93Leu) | |
X | g.71223984A>G | CA413501743 | GJB1 | c.277A>G (p.Met93Val) | ClinVar dbSNP |
X | g.71223984A>T | CA413501740 | GJB1 | c.277A>T (p.Met93Leu) | |
X | g.71223984_71223985del | CA915951190 | GJB1 | c.277_278del (p.Met93AlafsTer16) | ClinVar dbSNP |
X | g.71223985T>A | CA413501747 | GJB1 | c.278T>A (p.Met93Lys) | ClinVar dbSNP |
X | g.71223985T>C | CA413501745 | GJB1 | c.278T>C (p.Met93Thr) | gnomAD v4 |
X | g.71223985T>G | CA413501746 | GJB1 | c.278T>G (p.Met93Arg) | ClinVar dbSNP |
X | g.71223985T= | CA2436388275 | GJB1 | c.278T= (p.Met93=) | |
X | g.71223986G>A | CA413501750 | GJB1 | c.279G>A (p.Met93Ile) | |
X | g.71223986G>C | CA413501752 | GJB1 | c.279G>C (p.Met93Ile) | dbSNP |
X | g.71223986G= | CA2436388276 | GJB1 | c.279G= (p.Met93=) | |
X | g.71223986G>T | CA413501753 | GJB1 | c.279G>T (p.Met93Ile) | |
X | g.71223987C>A | CA413501757 | GJB1 | c.280C>A (p.His94Asn) | gnomAD v4 |
X | g.71223987C= | CA2436388277 | GJB1 | c.280C= (p.His94=) | |
X | g.71223987C>G | CA413501755 | GJB1 | c.280C>G (p.His94Asp) | ClinVar dbSNP |
X | g.71223987C>T | CA413501754 | GJB1 | c.280C>T (p.His94Tyr) | ClinVar dbSNP |
X | g.71223988A= | CA2436388278 | GJB1 | c.281A= (p.His94=) | |
X | g.71223988A>C | CA413501759 | GJB1 | c.281A>C (p.His94Pro) | |
X | g.71223988A>G | CA413501761 | GJB1 | c.281A>G (p.His94Arg) | ClinVar dbSNP |
X | g.71223988A>T | CA413501762 | GJB1 | c.281A>T (p.His94Leu) | |
X | g.71223989C>A | CA10584638 | GJB1 | c.282C>A (p.His94Gln) | ClinVar dbSNP |
X | g.71223989C= | CA2436388279 | GJB1 | c.282C= (p.His94=) | |
X | g.71223989C>G | CA413501765 | GJB1 | c.282C>G (p.His94Gln) | ClinVar dbSNP |
X | g.71223989C>T | CA10445290 | GJB1 | c.282C>T (p.His94=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71223990G>A | CA255254 | GJB1 | c.283G>A (p.Val95Met) | ClinVar dbSNP |
X | g.71223990G>C | CA413501767 | GJB1 | c.283G>C (p.Val95Leu) | |
X | g.71223990G= | CA2436388280 | GJB1 | c.283G= (p.Val95=) | |
X | g.71223990G>T | CA413501769 | GJB1 | c.283G>T (p.Val95Leu) | |
X | g.71223991T>A | CA413501771 | GJB1 | c.284T>A (p.Val95Glu) | |
X | g.71223991T>C | CA413501773 | GJB1 | c.284T>C (p.Val95Ala) | |
X | g.71223991T>G | CA413501774 | GJB1 | c.284T>G (p.Val95Gly) | |
X | g.71223992G>A | CA516821365 | GJB1 | c.285G>A (p.Val95=) | |
X | g.71223992G>C | CA516821366 | GJB1 | c.285G>C (p.Val95=) | |
X | g.71223992G>T | CA516821367 | GJB1 | c.285G>T (p.Val95=) | |
X | g.71223993G>A | CA413501776 | GJB1 | c.286G>A (p.Ala96Thr) | |
X | g.71223993G>C | CA413501778 | GJB1 | c.286G>C (p.Ala96Pro) | ClinVar dbSNP |
X | g.71223993G= | CA2436388281 | GJB1 | c.286G= (p.Ala96=) | |
X | g.71223993G>T | CA413501779 | GJB1 | c.286G>T (p.Ala96Ser) | |
X | g.71223994C>A | CA413501781 | GJB1 | c.287C>A (p.Ala96Asp) | |
X | g.71223994C= | CA2436388282 | GJB1 | c.287C= (p.Ala96=) | |
X | g.71223994C>G | CA330997722 | GJB1 | c.287C>G (p.Ala96Gly) | ClinVar dbSNP |
X | g.71223994C>T | CA413501782 | GJB1 | c.287C>T (p.Ala96Val) | ClinVar dbSNP |
X | g.71223995T>A | CA516821369 | GJB1 | c.288T>A (p.Ala96=) | |
X | g.71223995T>C | CA516821370 | GJB1 | c.288T>C (p.Ala96=) | |
X | g.71223995T>G | CA516821368 | GJB1 | c.288T>G (p.Ala96=) | |
X | g.71223996C>A | CA413501784 | GJB1 | c.289C>A (p.His97Asn) | |
X | g.71223996C>G | CA413501786 | GJB1 | c.289C>G (p.His97Asp) | |
X | g.71223996C>T | CA413501788 | GJB1 | c.289C>T (p.His97Tyr) | |
X | g.71223997A>C | CA413501790 | GJB1 | c.290A>C (p.His97Pro) | |
X | g.71223997A>G | CA413501793 | GJB1 | c.290A>G (p.His97Arg) | ClinVar dbSNP |
X | g.71223997A>T | CA413501791 | GJB1 | c.290A>T (p.His97Leu) | |
X | g.71223998C>A | CA413501794 | GJB1 | c.291C>A (p.His97Gln) | |
X | g.71223998C>G | CA413501796 | GJB1 | c.291C>G (p.His97Gln) | |
X | g.71223998C>T | CA516821371 | GJB1 | c.291C>T (p.His97=) | |
X | g.71223999C>A | CA413501798 | GJB1 | c.292C>A (p.Gln98Lys) | |
X | g.71223999C= | CA2436388283 | GJB1 | c.292C= (p.Gln98=) | |
X | g.71223999C>G | CA413501799 | GJB1 | c.292C>G (p.Gln98Glu) | |
X | g.71223999C>T | CA413501801 | GJB1 | c.292C>T (p.Gln98Ter) | ClinVar dbSNP |
X | g.71224000A>C | CA413501803 | GJB1 | c.293A>C (p.Gln98Pro) | |
X | g.71224000A>G | CA413501804 | GJB1 | c.293A>G (p.Gln98Arg) | |
X | g.71224000A>T | CA413501806 | GJB1 | c.293A>T (p.Gln98Leu) | |
X | g.71224000_71224001insCCAAAACACCAAACACAC | CA2821723681 | GJB1 | c.293_294insCCAAAACACCAAACACAC (p.Gln98delinsHisGlnAsnThrLysHisThr) | |
X | g.71224001G>A | CA516821372 | GJB1 | c.294G>A (p.Gln98=) | ClinVar dbSNP |
X | g.71224001G>C | CA413501807 | GJB1 | c.294G>C (p.Gln98His) | gnomAD v4 |
X | g.71224001G= | CA2436388284 | GJB1 | c.294G= (p.Gln98=) | |
X | g.71224001G>T | CA413501809 | GJB1 | c.294G>T (p.Gln98His) | gnomAD v4 |
X | g.71224002C>A | CA413501810 | GJB1 | c.295C>A (p.Gln99Lys) | |
X | g.71224002C= | CA2436388285 | GJB1 | c.295C= (p.Gln99=) | |
X | g.71224002C>G | CA413501812 | GJB1 | c.295C>G (p.Gln99Glu) | |
X | g.71224002C>T | CA413501814 | GJB1 | c.295C>T (p.Gln99Ter) | ClinVar dbSNP |
X | g.71224004_71224006dup | CA891844219 | GJB1 | c.297_299dup (p.Gln99_His100insGln) | ClinVar dbSNP |
X | g.71224003A>C | CA413501815 | GJB1 | c.296A>C (p.Gln99Pro) | |
X | g.71224003A>G | CA413501818 | GJB1 | c.296A>G (p.Gln99Arg) | |
X | g.71224003A>T | CA413501816 | GJB1 | c.296A>T (p.Gln99Leu) | |
X | g.71224004A= | CA2436388286 | GJB1 | c.297A= (p.Gln99=) | |
X | g.71224004A>C | CA413501820 | GJB1 | c.297A>C (p.Gln99His) | |
X | g.71224004A>G | CA516821373 | GJB1 | c.297A>G (p.Gln99=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224004A>T | CA413501821 | GJB1 | c.297A>T (p.Gln99His) | |
X | g.71224007_71224008del | CA2579640066 | GJB1 | c.300_301del (p.Ile101ArgfsTer8) | |
X | g.71224005C>A | CA413501823 | GJB1 | c.298C>A (p.His100Asn) | |
X | g.71224005C= | CA2436388287 | GJB1 | c.298C= (p.His100=) | |
X | g.71224005C>G | CA413501825 | GJB1 | c.298C>G (p.His100Asp) | |
X | g.71224005C>T | CA413501826 | GJB1 | c.298C>T (p.His100Tyr) | ClinVar dbSNP |
X | g.71224006A= | CA2436388288 | GJB1 | c.299A= (p.His100=) | |
X | g.71224006A>C | CA413501828 | GJB1 | c.299A>C (p.His100Pro) | COSMIC |
X | g.71224006A>G | CA413501829 | GJB1 | c.299A>G (p.His100Arg) | COSMIC |
X | g.71224006A>T | CA413501831 | GJB1 | c.299A>T (p.His100Leu) | ClinVar dbSNP |
X | g.71224006_71224007insT | CA2550433948 | GJB1 | c.299_300insT (p.Ile101HisfsTer9) | |
X | g.71224007C>A | CA413501833 | GJB1 | c.300C>A (p.His100Gln) | gnomAD v4 |
X | g.71224007C= | CA2436388289 | GJB1 | c.300C= (p.His100=) | |
X | g.71224007C>G | CA413501835 | GJB1 | c.300C>G (p.His100Gln) | ClinVar dbSNP |
X | g.71224007C>T | CA516821374 | GJB1 | c.300C>T (p.His100=) | ClinVar gnomAD v4 |
X | g.71224008A>C | CA413501838 | GJB1 | c.301A>C (p.Ile101Leu) | ClinVar |
X | g.71224008A>G | CA413501840 | GJB1 | c.301A>G (p.Ile101Val) | gnomAD v4 |
X | g.71224008A>T | CA413501836 | GJB1 | c.301A>T (p.Ile101Leu) | |
X | g.71224009_71224010del | CA2695234562 | GJB1 | c.302_303del (p.Ile101ArgfsTer8) | |
X | g.71224009T>A | CA413501844 | GJB1 | c.302T>A (p.Ile101Lys) | |
X | g.71224009T>C | CA413501841 | GJB1 | c.302T>C (p.Ile101Thr) | ClinVar gnomAD v4 |
X | g.71224009T>G | CA413501842 | GJB1 | c.302T>G (p.Ile101Arg) | |
X | g.71224010A>C | CA516821375 | GJB1 | c.303A>C (p.Ile101=) | |
X | g.71224010A>G | CA413501846 | GJB1 | c.303A>G (p.Ile101Met) | |
X | g.71224010A>T | CA516821376 | GJB1 | c.303A>T (p.Ile101=) | |
X | g.71224010_71224013delinsAGAG | CA2436388290 | GJB1 | c.303_306delinsAGAG (p.Ile101=) | |
X | g.71224011G>A | CA413501848 | GJB1 | c.304G>A (p.Glu102Lys) | gnomAD v4 |
X | g.71224011G>C | CA413501849 | GJB1 | c.304G>C (p.Glu102Gln) | ClinVar |
X | g.71224011G= | CA2436388291 | GJB1 | c.304G= (p.Glu102=) | |
X | g.71224011G>T | CA413501850 | GJB1 | c.304G>T (p.Glu102Ter) | ClinVar dbSNP |
X | g.71224011_71224013del | CA658659010 | GJB1 | c.304_306del (p.Glu102del) | ClinVar dbSNP |
X | g.71224012A= | CA2436388292 | GJB1 | c.305A= (p.Glu102=) | |
X | g.71224012A>C | CA413501852 | GJB1 | c.305A>C (p.Glu102Ala) | |
X | g.71224012A>G | CA339218 | GJB1 | c.305A>G (p.Glu102Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224012A>T | CA413501854 | GJB1 | c.305A>T (p.Glu102Val) | |
X | g.71224012dup | CA2695234563 | GJB1 | c.305dup (p.Lys103GlufsTer7) | |
X | g.71224013G>A | CA516821377 | GJB1 | c.306G>A (p.Glu102=) | dbSNP gnomAD v4 |
X | g.71224013G>C | CA413501856 | GJB1 | c.306G>C (p.Glu102Asp) | |
X | g.71224013G= | CA2436388293 | GJB1 | c.306G= (p.Glu102=) | |
X | g.71224013G>T | CA413501857 | GJB1 | c.306G>T (p.Glu102Asp) | |
X | g.71224014A= | CA2436388294 | GJB1 | c.307A= (p.Lys103=) | |
X | g.71224014A>C | CA413501863 | GJB1 | c.307A>C (p.Lys103Gln) | |
X | g.71224014A>G | CA413501861 | GJB1 | c.307A>G (p.Lys103Glu) | ClinVar dbSNP gnomAD v4 |
X | g.71224014A>T | CA413501859 | GJB1 | c.307A>T (p.Lys103Ter) | |
X | g.71224015dup | CA915951191 | GJB1 | c.308dup (p.Lys104GlufsTer6) | ClinVar dbSNP |
X | g.71224015A>C | CA413501864 | GJB1 | c.308A>C (p.Lys103Thr) | |
X | g.71224015A>G | CA413501865 | GJB1 | c.308A>G (p.Lys103Arg) | |
X | g.71224015A>T | CA413501867 | GJB1 | c.308A>T (p.Lys103Met) | |
X | g.71224016G>A | CA516820842 | GJB1 | c.309G>A (p.Lys103=) | ClinVar dbSNP gnomAD v4 |
X | g.71224016G>C | CA413501869 | GJB1 | c.309G>C (p.Lys103Asn) | |
X | g.71224016G= | CA2436388296 | GJB1 | c.309G= (p.Lys103=) | |
X | g.71224016G>T | CA413501870 | GJB1 | c.309G>T (p.Lys103Asn) | |
X | g.71224016_71224017delinsGA | CA2436388295 | GJB1 | c.309_310delinsGA (p.Lys103=) | |
X | g.71224017A>C | CA413501872 | GJB1 | c.310A>C (p.Lys104Gln) | |
X | g.71224017A>G | CA413501874 | GJB1 | c.310A>G (p.Lys104Glu) | |
X | g.71224017A>T | CA413501875 | GJB1 | c.310A>T (p.Lys104Ter) | ClinVar |
X | g.71224020del | CA915951192 | GJB1 | c.313del (p.Met105CysfsTer16) | ClinVar dbSNP |
X | g.71224018A= | CA2436388297 | GJB1 | c.311A= (p.Lys104=) | |
X | g.71224018A>C | CA413501877 | GJB1 | c.311A>C (p.Lys104Thr) | ClinVar dbSNP |
X | g.71224018A>G | CA413501879 | GJB1 | c.311A>G (p.Lys104Arg) | |
X | g.71224018A>T | CA413501880 | GJB1 | c.311A>T (p.Lys104Ile) | ClinVar dbSNP |
X | g.71224019A>C | CA413501882 | GJB1 | c.312A>C (p.Lys104Asn) | |
X | g.71224019A>G | CA516820843 | GJB1 | c.312A>G (p.Lys104=) | |
X | g.71224019A>T | CA413501883 | GJB1 | c.312A>T (p.Lys104Asn) | |
X | g.71224020A>C | CA413501887 | GJB1 | c.313A>C (p.Met105Leu) | |
X | g.71224020A>G | CA413501888 | GJB1 | c.313A>G (p.Met105Val) | gnomAD v4 |
X | g.71224020A>T | CA413501886 | GJB1 | c.313A>T (p.Met105Leu) | |
X | g.71224021T>A | CA413501890 | GJB1 | c.314T>A (p.Met105Lys) | |
X | g.71224021T>C | CA10445291 | GJB1 | c.314T>C (p.Met105Thr) | dbSNP ExAC gnomAD v2 |
X | g.71224021T>G | CA413501892 | GJB1 | c.314T>G (p.Met105Arg) | |
X | g.71224021T= | CA2436388298 | GJB1 | c.314T= (p.Met105=) | |
X | g.71224022G>A | CA413501893 | GJB1 | c.315G>A (p.Met105Ile) | |
X | g.71224022G>C | CA413501895 | GJB1 | c.315G>C (p.Met105Ile) | |
X | g.71224022G>T | CA413501897 | GJB1 | c.315G>T (p.Met105Ile) | |
X | g.71224023_71224027del | CA2573159492 | GJB1 | c.316_320del (p.Leu106AlafsTer2) | ClinVar dbSNP |
X | g.71224023C>A | CA413501899 | GJB1 | c.316C>A (p.Leu106Ile) | |
X | g.71224023C>G | CA413501900 | GJB1 | c.316C>G (p.Leu106Val) | ClinVar |
X | g.71224023C>T | CA516820844 | GJB1 | c.316C>T (p.Leu106=) | |
X | g.71224024T>A | CA413501902 | GJB1 | c.317T>A (p.Leu106Gln) | |
X | g.71224024T>C | CA413501903 | GJB1 | c.317T>C (p.Leu106Pro) | |
X | g.71224024T>G | CA413501905 | GJB1 | c.317T>G (p.Leu106Arg) | |
X | g.71224025A= | CA2436388299 | GJB1 | c.318A= (p.Leu106=) | |
X | g.71224025A>C | CA516820845 | GJB1 | c.318A>C (p.Leu106=) | |
X | g.71224025A>G | CA10445292 | GJB1 | c.318A>G (p.Leu106=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224025A>T | CA516820846 | GJB1 | c.318A>T (p.Leu106=) | |
X | g.71224025dup | CA2573055392 | GJB1 | c.318dup (p.Arg107ThrfsTer3) | ClinVar dbSNP |
X | g.71224025_71224026del | CA2524494440 | GJB1 | c.318_319del (p.Arg107AlafsTer2) | |
X | g.71224025_71224026delinsAC | CA2436388300 | GJB1 | c.318_319delinsAC (p.Leu106=) | |
X | g.71224026del | CA891844220 | GJB1 | c.319del (p.Arg107GlyfsTer14) | ClinVar dbSNP |
X | g.71224026C>A | CA516820847 | GJB1 | c.319C>A (p.Arg107=) | dbSNP gnomAD v3 gnomAD v4 |
X | g.71224026C= | CA2436388301 | GJB1 | c.319C= (p.Arg107=) | |
X | g.71224026C>G | CA413501907 | GJB1 | c.319C>G (p.Arg107Gly) | |
X | g.71224026C>T | CA279061 | GJB1 | c.319C>T (p.Arg107Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224027G>A | CA413501913 | GJB1 | c.320G>A (p.Arg107Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71224027G>C | CA413501911 | GJB1 | c.320G>C (p.Arg107Pro) | |
X | g.71224027G= | CA2436388302 | GJB1 | c.320G= (p.Arg107=) | |
X | g.71224027G>T | CA413501910 | GJB1 | c.320G>T (p.Arg107Leu) | |
X | g.71224028G>A | CA516820848 | GJB1 | c.321G>A (p.Arg107=) | dbSNP gnomAD v4 |
X | g.71224028G>C | CA516820849 | GJB1 | c.321G>C (p.Arg107=) | |
X | g.71224028G= | CA2436388303 | GJB1 | c.321G= (p.Arg107=) | |
X | g.71224028G>T | CA516820850 | GJB1 | c.321G>T (p.Arg107=) | |
X | g.71224028_71224029insTG | CA2562517199 | GJB1 | c.321_322insTG (p.Leu108CysfsTer14) | |
X | g.71224029C>A | CA413501914 | GJB1 | c.322C>A (p.Leu108Ile) | |
X | g.71224029C= | CA2436388304 | GJB1 | c.322C= (p.Leu108=) | |
X | g.71224029C>G | CA413501915 | GJB1 | c.322C>G (p.Leu108Val) | |
X | g.71224029C>T | CA413501917 | GJB1 | c.322C>T (p.Leu108Phe) | |
X | g.71224030T>A | CA413501919 | GJB1 | c.323T>A (p.Leu108His) | |
X | g.71224030T>C | CA413501920 | GJB1 | c.323T>C (p.Leu108Pro) | ClinVar dbSNP |
X | g.71224030T>G | CA413501922 | GJB1 | c.323T>G (p.Leu108Arg) | |
X | g.71224030T= | CA2436388305 | GJB1 | c.323T= (p.Leu108=) | |
X | g.71224031dup | CA658799791 | GJB1 | c.324dup (p.Glu109Ter) | ClinVar dbSNP |
X | g.71224031T>A | CA516820851 | GJB1 | c.324T>A (p.Leu108=) | |
X | g.71224031T>C | CA516820852 | GJB1 | c.324T>C (p.Leu108=) | |
X | g.71224031T>G | CA516820853 | GJB1 | c.324T>G (p.Leu108=) | |
X | g.71224032G>A | CA413501923 | GJB1 | c.325G>A (p.Glu109Lys) | gnomAD v4 |
X | g.71224032G>C | CA413501924 | GJB1 | c.325G>C (p.Glu109Gln) | |
X | g.71224032G= | CA2436388306 | GJB1 | c.325G= (p.Glu109=) | |
X | g.71224032G>T | CA10445293 | GJB1 | c.325G>T (p.Glu109Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
X | g.71224033A>C | CA413501925 | GJB1 | c.326A>C (p.Glu109Ala) | |
X | g.71224033A>G | CA413501926 | GJB1 | c.326A>G (p.Glu109Gly) | |
X | g.71224033A>T | CA413501927 | GJB1 | c.326A>T (p.Glu109Val) | |
X | g.71224034G>A | CA516820854 | GJB1 | c.327G>A (p.Glu109=) | ClinVar |
X | g.71224034G>C | CA413501928 | GJB1 | c.327G>C (p.Glu109Asp) | |
X | g.71224034G>T | CA413501929 | GJB1 | c.327G>T (p.Glu109Asp) | |
X | g.71224035G>A | CA413501931 | GJB1 | c.328G>A (p.Gly110Ser) | |
X | g.71224035G>C | CA413501932 | GJB1 | c.328G>C (p.Gly110Arg) | |
X | g.71224035G>T | CA413501930 | GJB1 | c.328G>T (p.Gly110Cys) | |
X | g.71224036G>A | CA413501934 | GJB1 | c.329G>A (p.Gly110Asp) | ClinVar dbSNP |
X | g.71224036G>C | CA413501933 | GJB1 | c.329G>C (p.Gly110Ala) | COSMIC |
X | g.71224036G= | CA2436388307 | GJB1 | c.329G= (p.Gly110=) | |
X | g.71224036G>T | CA413501935 | GJB1 | c.329G>T (p.Gly110Val) | ClinVar |
X | g.71224036_71224054delinsGCCATGGGGACCCCCTACA | CA2436388308 | GJB1 | c.329_347delinsGCCATGGGGACCCCCTACA (p.Gly110=) | |
X | g.71224037C>A | CA516820857 | GJB1 | c.330C>A (p.Gly110=) | gnomAD v4 |
X | g.71224037C= | CA2436388309 | GJB1 | c.330C= (p.Gly110=) | |
X | g.71224037C>G | CA516820856 | GJB1 | c.330C>G (p.Gly110=) | dbSNP |
X | g.71224037C>T | CA516820855 | GJB1 | c.330C>T (p.Gly110=) | |
X | g.71224039_71224056del | CA915951193 | GJB1 | c.332_349del (p.His111_His116del) | ClinVar dbSNP |
X | g.71224038C>A | CA413501936 | GJB1 | c.331C>A (p.His111Asn) | |
X | g.71224038C>G | CA413501937 | GJB1 | c.331C>G (p.His111Asp) | |
X | g.71224038C>T | CA413501938 | GJB1 | c.331C>T (p.His111Tyr) | gnomAD v4 |
X | g.71224039A>C | CA413501939 | GJB1 | c.332A>C (p.His111Pro) | |
X | g.71224039A>G | CA413501940 | GJB1 | c.332A>G (p.His111Arg) | gnomAD v4 |
X | g.71224039A>T | CA413501941 | GJB1 | c.332A>T (p.His111Leu) | |
X | g.71224040T>A | CA413501943 | GJB1 | c.333T>A (p.His111Gln) | |
X | g.71224040T>C | CA516820858 | GJB1 | c.333T>C (p.His111=) | |
X | g.71224040T>G | CA413501942 | GJB1 | c.333T>G (p.His111Gln) | |
X | g.71224041G>A | CA413501944 | GJB1 | c.334G>A (p.Gly112Arg) | |
X | g.71224041G>C | CA413501945 | GJB1 | c.334G>C (p.Gly112Arg) | |
X | g.71224041G>T | CA413501946 | GJB1 | c.334G>T (p.Gly112Trp) | |
X | g.71224042G>A | CA330997734 | GJB1 | c.335G>A (p.Gly112Glu) | dbSNP |
X | g.71224042G>C | CA413501947 | GJB1 | c.335G>C (p.Gly112Ala) | gnomAD v4 |
X | g.71224042G= | CA2436388310 | GJB1 | c.335G= (p.Gly112=) | |
X | g.71224042G>T | CA413501948 | GJB1 | c.335G>T (p.Gly112Val) | |
X | g.71224043G>A | CA516820859 | GJB1 | c.336G>A (p.Gly112=) | |
X | g.71224043G>C | CA516820861 | GJB1 | c.336G>C (p.Gly112=) | |
X | g.71224043G>T | CA516820860 | GJB1 | c.336G>T (p.Gly112=) | |
X | g.71224044G>A | CA413501951 | GJB1 | c.337G>A (p.Asp113Asn) | |
X | g.71224044G>C | CA413501949 | GJB1 | c.337G>C (p.Asp113His) | |
X | g.71224044G>T | CA413501950 | GJB1 | c.337G>T (p.Asp113Tyr) | |
X | g.71224044_71224052delinsGACCCCCTA | CA2436388311 | GJB1 | c.337_345delinsGACCCCCTA (p.Asp113=) |