Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
X | g.71223920C>A | CA516821292 | GJB1 | c.213C>A (p.Ile71=) | |
X | g.71223920C= | CA2436388223 | GJB1 | c.213C= (p.Ile71=) | |
X | g.71223920C>G | CA413501507 | GJB1 | c.213C>G (p.Ile71Met) | |
X | g.71223920C>T | CA516821294 | GJB1 | c.213C>T (p.Ile71=) | dbSNP |
X | g.71223921T>A | CA413501515 | GJB1 | c.214T>A (p.Ser72Thr) | |
X | g.71223921T>C | CA413501511 | GJB1 | c.214T>C (p.Ser72Pro) | |
X | g.71223921T>G | CA413501512 | GJB1 | c.214T>G (p.Ser72Ala) | |
X | g.71223921_71223922delinsTC | CA2436388224 | GJB1 | c.214_215delinsTC (p.Ser72=) | |
X | g.71223922C>A | CA413501518 | GJB1 | c.215C>A (p.Ser72Tyr) | |
X | g.71223922C= | CA2436388225 | GJB1 | c.215C= (p.Ser72=) | |
X | g.71223922C>G | CA413501520 | GJB1 | c.215C>G (p.Ser72Cys) | ClinVar dbSNP |
X | g.71223922C>T | CA413501523 | GJB1 | c.215C>T (p.Ser72Phe) | ClinVar dbSNP |
X | g.71223924del | CA915951186 | GJB1 | c.217del (p.His73MetfsTer11) | ClinVar dbSNP |
X | g.71223923C>A | CA516821297 | GJB1 | c.216C>A (p.Ser72=) | |
X | g.71223923C= | CA2436388226 | GJB1 | c.216C= (p.Ser72=) | |
X | g.71223923C>G | CA516821299 | GJB1 | c.216C>G (p.Ser72=) | ClinVar gnomAD v4 |
X | g.71223923C>T | CA516821300 | GJB1 | c.216C>T (p.Ser72=) | ClinVar dbSNP gnomAD v4 |
X | g.71223924C>A | CA413501529 | GJB1 | c.217C>A (p.His73Asn) | |
X | g.71223924C>G | CA413501532 | GJB1 | c.217C>G (p.His73Asp) | |
X | g.71223924C>T | CA413501534 | GJB1 | c.217C>T (p.His73Tyr) | |
X | g.71223924_71223925insTTCTTCGCTTTC | CA10445279 | GJB1 | c.217_218insTTCTTCGCTTTC (p.Ser72_His73insLeuLeuArgPhe) | dbSNP ExAC |
X | g.71223925A= | CA2436388227 | GJB1 | c.218A= (p.His73=) | |
X | g.71223925A>C | CA413501538 | GJB1 | c.218A>C (p.His73Pro) | |
X | g.71223925A>G | CA413501540 | GJB1 | c.218A>G (p.His73Arg) | ClinVar dbSNP |
X | g.71223925A>T | CA10445280 | GJB1 | c.218A>T (p.His73Leu) | dbSNP ExAC gnomAD v2 |
X | g.71223926T>A | CA413501544 | GJB1 | c.219T>A (p.His73Gln) | |
X | g.71223926T>C | CA516821304 | GJB1 | c.219T>C (p.His73=) | |
X | g.71223926T>G | CA413501546 | GJB1 | c.219T>G (p.His73Gln) | |
X | g.71223927G>A | CA413501551 | GJB1 | c.220G>A (p.Val74Met) | ClinVar dbSNP |
X | g.71223927G>C | CA10445281 | GJB1 | c.220G>C (p.Val74Leu) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.71223927G= | CA2436388228 | GJB1 | c.220G= (p.Val74=) | |
X | g.71223927G>T | CA413501549 | GJB1 | c.220G>T (p.Val74Leu) | |
X | g.71223928T>A | CA413501553 | GJB1 | c.221T>A (p.Val74Glu) | |
X | g.71223928T>C | CA413501557 | GJB1 | c.221T>C (p.Val74Ala) | ClinVar dbSNP |
X | g.71223928T>G | CA413501554 | GJB1 | c.221T>G (p.Val74Gly) | |
X | g.71223928T= | CA2436388229 | GJB1 | c.221T= (p.Val74=) | |
X | g.71223929G>A | CA10445283 | GJB1 | c.222G>A (p.Val74=) | dbSNP ExAC gnomAD v4 |
X | g.71223929G>C | CA516821307 | GJB1 | c.222G>C (p.Val74=) | |
X | g.71223929G= | CA2436388230 | GJB1 | c.222G= (p.Val74=) | |
X | g.71223929G>T | CA10445282 | GJB1 | c.222G>T (p.Val74=) | dbSNP ExAC gnomAD v2 |
X | g.71223930C>A | CA330997691 | GJB1 | c.223C>A (p.Arg75=) | dbSNP |
X | g.71223930C= | CA2436388231 | GJB1 | c.223C= (p.Arg75=) | |
X | g.71223930C>G | CA413501562 | GJB1 | c.223C>G (p.Arg75Gly) | |
X | g.71223930C>T | CA341601 | GJB1 | c.223C>T (p.Arg75Trp) | ClinVar dbSNP gnomAD v4 |
X | g.71223930_71223931delinsCG | CA2436388232 | GJB1 | c.223_224delinsCG (p.Arg75=) | |
X | g.71223931G>A | CA279107 | GJB1 | c.224G>A (p.Arg75Gln) | ClinVar dbSNP |
X | g.71223931G>C | CA413501574 | GJB1 | c.224G>C (p.Arg75Pro) | ClinVar dbSNP |
X | g.71223931G= | CA2436388233 | GJB1 | c.224G= (p.Arg75=) | |
X | g.71223931G>T | CA413501572 | GJB1 | c.224G>T (p.Arg75Leu) | |
X | g.71223932del | CA341604 | GJB1 | c.225del (p.Leu76CysfsTer8) | ClinVar dbSNP ExAC gnomAD v2 |
X | g.71223932G>A | CA516821313 | GJB1 | c.225G>A (p.Arg75=) | dbSNP |
X | g.71223932G>C | CA516821315 | GJB1 | c.225G>C (p.Arg75=) | |
X | g.71223932G= | CA2436388234 | GJB1 | c.225G= (p.Arg75=) | |
X | g.71223932G>T | CA516821316 | GJB1 | c.225G>T (p.Arg75=) | |
X | g.71223933C>A | CA413501576 | GJB1 | c.226C>A (p.Leu76Met) | gnomAD v4 |
X | g.71223933C>G | CA413501578 | GJB1 | c.226C>G (p.Leu76Val) | |
X | g.71223933C>T | CA516821317 | GJB1 | c.226C>T (p.Leu76=) | gnomAD v4 |
X | g.71223934T>A | CA413501580 | GJB1 | c.227T>A (p.Leu76Gln) | |
X | g.71223934T>C | CA413501582 | GJB1 | c.227T>C (p.Leu76Pro) | |
X | g.71223934T>G | CA413501583 | GJB1 | c.227T>G (p.Leu76Arg) | ClinVar dbSNP |
X | g.71223934T= | CA2436388235 | GJB1 | c.227T= (p.Leu76=) | |
X | g.71223934dup | CA2697553166 | GJB1 | c.227dup (p.Trp77ValfsTer?) | ClinVar |
X | g.71223935G>A | CA516821319 | GJB1 | c.228G>A (p.Leu76=) | ClinVar gnomAD v4 |
X | g.71223935G>C | CA516821321 | GJB1 | c.228G>C (p.Leu76=) | |
X | g.71223935G= | CA2436388236 | GJB1 | c.228G= (p.Leu76=) | |
X | g.71223935G>T | CA10445284 | GJB1 | c.228G>T (p.Leu76=) | dbSNP ExAC |
X | g.71223936T>A | CA413501586 | GJB1 | c.229T>A (p.Trp77Arg) | |
X | g.71223936T>C | CA413501589 | GJB1 | c.229T>C (p.Trp77Arg) | |
X | g.71223936T>G | CA413501588 | GJB1 | c.229T>G (p.Trp77Gly) | |
X | g.71223937G>A | CA413501591 | GJB1 | c.230G>A (p.Trp77Ter) | |
X | g.71223937G>C | CA330997697 | GJB1 | c.230G>C (p.Trp77Ser) | ClinVar dbSNP |
X | g.71223937G= | CA2436388237 | GJB1 | c.230G= (p.Trp77=) | |
X | g.71223937G>T | CA413501593 | GJB1 | c.230G>T (p.Trp77Leu) | ClinVar dbSNP |
X | g.71223938G>A | CA10584636 | GJB1 | c.231G>A (p.Trp77Ter) | ClinVar dbSNP |
X | g.71223938G>C | CA413501596 | GJB1 | c.231G>C (p.Trp77Cys) | |
X | g.71223938G= | CA2436388238 | GJB1 | c.231G= (p.Trp77=) | |
X | g.71223938G>T | CA413501597 | GJB1 | c.231G>T (p.Trp77Cys) | ClinVar |
X | g.71223939T>A | CA413501599 | GJB1 | c.232T>A (p.Ser78Thr) | |
X | g.71223939T>C | CA413501600 | GJB1 | c.232T>C (p.Ser78Pro) | |
X | g.71223939T>G | CA413501602 | GJB1 | c.232T>G (p.Ser78Ala) | ClinVar dbSNP |
X | g.71223939T= | CA2436388239 | GJB1 | c.232T= (p.Ser78=) | |
X | g.71223940C>A | CA413501604 | GJB1 | c.233C>A (p.Ser78Tyr) | |
X | g.71223940C= | CA2436388240 | GJB1 | c.233C= (p.Ser78=) | |
X | g.71223940C>G | CA413501605 | GJB1 | c.233C>G (p.Ser78Cys) | |
X | g.71223940C>T | CA413501606 | GJB1 | c.233C>T (p.Ser78Phe) | ClinVar dbSNP |
X | g.71223942del | CA2499226843 | GJB1 | c.235del (p.Leu79CysfsTer5) | ClinVar dbSNP |
X | g.71223941C>A | CA516821327 | GJB1 | c.234C>A (p.Ser78=) | |
X | g.71223941C= | CA2436388241 | GJB1 | c.234C= (p.Ser78=) | |
X | g.71223941C>G | CA516821329 | GJB1 | c.234C>G (p.Ser78=) | |
X | g.71223941C>T | CA516821328 | GJB1 | c.234C>T (p.Ser78=) | ClinVar dbSNP |
X | g.71223942C>A | CA413501607 | GJB1 | c.235C>A (p.Leu79Met) | |
X | g.71223942C= | CA2436388242 | GJB1 | c.235C= (p.Leu79=) | |
X | g.71223942C>G | CA413501609 | GJB1 | c.235C>G (p.Leu79Val) | |
X | g.71223942C>T | CA350694 | GJB1 | c.235C>T (p.Leu79=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
X | g.71223943T>A | CA413501611 | GJB1 | c.236T>A (p.Leu79Gln) | |
X | g.71223943T>C | CA413501613 | GJB1 | c.236T>C (p.Leu79Pro) | gnomAD v4 |
X | g.71223943T>G | CA413501614 | GJB1 | c.236T>G (p.Leu79Arg) | |
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) |