UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224095A>C | CA413502121 | GJB1 | c.388A>C (p.Thr130Pro) | |
| X | g.71224095A>G | CA413502122 | GJB1 | c.388A>G (p.Thr130Ala) | ClinVar |
| X | g.71224095A>T | CA413502125 | GJB1 | c.388A>T (p.Thr130Ser) | |
| X | g.71224096C>A | CA413502127 | GJB1 | c.389C>A (p.Thr130Lys) | |
| X | g.71224096C= | CA2436388340 | GJB1 | c.389C= (p.Thr130=) | |
| X | g.71224096C>G | CA413502129 | GJB1 | c.389C>G (p.Thr130Arg) | |
| X | g.71224096C>T | CA413502132 | GJB1 | c.389C>T (p.Thr130Ile) | ClinVar dbSNP |
| X | g.71224097A>C | CA516820895 | GJB1 | c.390A>C (p.Thr130=) | |
| X | g.71224097A>G | CA516820897 | GJB1 | c.390A>G (p.Thr130=) | |
| X | g.71224097A>T | CA516820896 | GJB1 | c.390A>T (p.Thr130=) | |
| X | g.71224098C>A | CA413502136 | GJB1 | c.391C>A (p.Leu131Met) | |
| X | g.71224098C>G | CA413502138 | GJB1 | c.391C>G (p.Leu131Val) | ClinVar dbSNP |
| X | g.71224098C>T | CA516820898 | GJB1 | c.391C>T (p.Leu131=) | gnomAD v4 |
| X | g.71224098_71224100delinsCTG | CA2436388341 | GJB1 | c.391_393delinsCTG (p.Leu131=) | |
| X | g.71224099T>A | CA413502150 | GJB1 | c.392T>A (p.Leu131Gln) | |
| X | g.71224099T>C | CA413502149 | GJB1 | c.392T>C (p.Leu131Pro) | ClinVar dbSNP |
| X | g.71224099T>G | CA413502146 | GJB1 | c.392T>G (p.Leu131Arg) | ClinVar dbSNP |
| X | g.71224099T= | CA2436388342 | GJB1 | c.392T= (p.Leu131=) | |
| X | g.71224101_71224102del | CA658799793 | GJB1 | c.394_395del (p.Trp132ValfsTer14) | ClinVar dbSNP |
| X | g.71224100G>A | CA516820899 | GJB1 | c.393G>A (p.Leu131=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224100G>C | CA516820900 | GJB1 | c.393G>C (p.Leu131=) | |
| X | g.71224100G= | CA2436388343 | GJB1 | c.393G= (p.Leu131=) | |
| X | g.71224100G>T | CA516820901 | GJB1 | c.393G>T (p.Leu131=) | |
| X | g.71224101T>A | CA413502153 | GJB1 | c.394T>A (p.Trp132Arg) | |
| X | g.71224101T>C | CA413502154 | GJB1 | c.394T>C (p.Trp132Arg) | ClinVar dbSNP |
| X | g.71224101T>G | CA413502157 | GJB1 | c.394T>G (p.Trp132Gly) | ClinVar dbSNP |
| X | g.71224101T= | CA2436388345 | GJB1 | c.394T= (p.Trp132=) | |
| X | g.71224101_71224102delinsTG | CA2436388344 | GJB1 | c.394_395delinsTG (p.Trp132=) | |
| X | g.71224102G>A | CA413502158 | GJB1 | c.395G>A (p.Trp132Ter) | ClinVar dbSNP |
| X | g.71224102G>C | CA413502160 | GJB1 | c.395G>C (p.Trp132Ser) | |
| X | g.71224102G>T | CA413502162 | GJB1 | c.395G>T (p.Trp132Leu) | |
| X | g.71224103del | CA10584640 | GJB1 | c.396del (p.Trp132CysfsTer?) | ClinVar dbSNP |
| X | g.71224103G>A | CA413502168 | GJB1 | c.396G>A (p.Trp132Ter) | ClinVar dbSNP |
| X | g.71224103G>C | CA413502169 | GJB1 | c.396G>C (p.Trp132Cys) | |
| X | g.71224103G= | CA2436388346 | GJB1 | c.396G= (p.Trp132=) | |
| X | g.71224103G>T | CA413502172 | GJB1 | c.396G>T (p.Trp132Cys) | |
| X | g.71224103_71224104delinsGT | CA2436388347 | GJB1 | c.396_397delinsGT (p.Trp132=) | |
| X | g.71224104del | CA915951197 | GJB1 | c.397del (p.Trp133GlyfsTer?) | ClinVar dbSNP |
| X | g.71224104T>A | CA413502175 | GJB1 | c.397T>A (p.Trp133Arg) | |
| X | g.71224104T>C | CA255235 | GJB1 | c.397T>C (p.Trp133Arg) | ClinVar dbSNP |
| X | g.71224104T>G | CA413502180 | GJB1 | c.397T>G (p.Trp133Gly) | |
| X | g.71224104T= | CA2436388348 | GJB1 | c.397T= (p.Trp133=) | |
| X | g.71224105G>A | CA413502186 | GJB1 | c.398G>A (p.Trp133Ter) | COSMIC |
| X | g.71224105G>C | CA413502188 | GJB1 | c.398G>C (p.Trp133Ser) | |
| X | g.71224105G>T | CA413502183 | GJB1 | c.398G>T (p.Trp133Leu) | |
| X | g.71224106G>A | CA413502190 | GJB1 | c.399G>A (p.Trp133Ter) | ClinVar dbSNP |
| X | g.71224106G>C | CA413502191 | GJB1 | c.399G>C (p.Trp133Cys) | |
| X | g.71224106G= | CA2436388349 | GJB1 | c.399G= (p.Trp133=) | |
| X | g.71224106G>T | CA413502192 | GJB1 | c.399G>T (p.Trp133Cys) | ClinVar dbSNP |
| X | g.71224107A>C | CA413502195 | GJB1 | c.400A>C (p.Thr134Pro) | |
| X | g.71224107A>G | CA413502198 | GJB1 | c.400A>G (p.Thr134Ala) | |
| X | g.71224107A>T | CA413502200 | GJB1 | c.400A>T (p.Thr134Ser) | |
| X | g.71224108C>A | CA413502203 | GJB1 | c.401C>A (p.Thr134Asn) | |
| X | g.71224108C>G | CA413502206 | GJB1 | c.401C>G (p.Thr134Ser) | |
| X | g.71224108C>T | CA413502213 | GJB1 | c.401C>T (p.Thr134Ile) | |
| X | g.71224109del | CA2695234564 | GJB1 | c.402del (p.Tyr135MetfsTer?) | |
| X | g.71224109C>A | CA516820902 | GJB1 | c.402C>A (p.Thr134=) | gnomAD v4 |
| X | g.71224109C= | CA2436388350 | GJB1 | c.402C= (p.Thr134=) | |
| X | g.71224109C>G | CA516820903 | GJB1 | c.402C>G (p.Thr134=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224109C>T | CA516820904 | GJB1 | c.402C>T (p.Thr134=) | |
| X | g.71224110T>A | CA413502220 | GJB1 | c.403T>A (p.Tyr135Asn) | |
| X | g.71224110T>C | CA413502223 | GJB1 | c.403T>C (p.Tyr135His) | |
| X | g.71224110T>G | CA413502226 | GJB1 | c.403T>G (p.Tyr135Asp) | |
| X | g.71224110dup | CA2695234566 | GJB1 | c.403dup (p.Tyr135LeufsTer12) | |
| X | g.71224111_71224112del | CA2695234565 | GJB1 | c.404_405del (p.Tyr135CysfsTer11) | |
| X | g.71224111A= | CA2436388351 | GJB1 | c.404A= (p.Tyr135=) | |
| X | g.71224111A>C | CA413502233 | GJB1 | c.404A>C (p.Tyr135Ser) | |
| X | g.71224111A>G | CA413502229 | GJB1 | c.404A>G (p.Tyr135Cys) | ClinVar dbSNP |
| X | g.71224111A>T | CA413502231 | GJB1 | c.404A>T (p.Tyr135Phe) | |
| X | g.71224112T>A | CA413502237 | GJB1 | c.405T>A (p.Tyr135Ter) | |
| X | g.71224112T>C | CA516820905 | GJB1 | c.405T>C (p.Tyr135=) | ClinVar |
| X | g.71224112T>G | CA413502239 | GJB1 | c.405T>G (p.Tyr135Ter) | |
| X | g.71224113_71224114dup | CA2580612285 | GJB1 | c.406_407dup (p.Ile137SerfsTer?) | ClinVar |
| X | g.71224113G>A | CA413502242 | GJB1 | c.406G>A (p.Val136Ile) | |
| X | g.71224113G>C | CA413502245 | GJB1 | c.406G>C (p.Val136Leu) | |
| X | g.71224113G>T | CA413502247 | GJB1 | c.406G>T (p.Val136Phe) | COSMIC |
| X | g.71224114T>A | CA413502249 | GJB1 | c.407T>A (p.Val136Asp) | |
| X | g.71224114T>C | CA121071 | GJB1 | c.407T>C (p.Val136Ala) | ClinVar dbSNP |
| X | g.71224114T>G | CA413502257 | GJB1 | c.407T>G (p.Val136Gly) | |
| X | g.71224114T= | CA2436388352 | GJB1 | c.407T= (p.Val136=) | |
| X | g.71224115C>A | CA516820906 | GJB1 | c.408C>A (p.Val136=) | |
| X | g.71224115C>G | CA516820907 | GJB1 | c.408C>G (p.Val136=) | |
| X | g.71224115C>T | CA516820908 | GJB1 | c.408C>T (p.Val136=) | gnomAD v4 |
| X | g.71224116A>C | CA413502260 | GJB1 | c.409A>C (p.Ile137Leu) | |
| X | g.71224116A>G | CA413502262 | GJB1 | c.409A>G (p.Ile137Val) | ClinVar |
| X | g.71224116A>T | CA413502268 | GJB1 | c.409A>T (p.Ile137Phe) | |
| X | g.71224116_71224117delinsAT | CA2436388353 | GJB1 | c.409_410delinsAT (p.Ile137=) | |
| X | g.71224117del | CA915951198 | GJB1 | c.410del (p.Ile137ThrfsTer?) | ClinVar dbSNP |
| X | g.71224117T>A | CA413502277 | GJB1 | c.410T>A (p.Ile137Asn) | |
| X | g.71224117T>C | CA413502279 | GJB1 | c.410T>C (p.Ile137Thr) | |
| X | g.71224117T>G | CA413502276 | GJB1 | c.410T>G (p.Ile137Ser) | |
| X | g.71224118C>A | CA516820909 | GJB1 | c.411C>A (p.Ile137=) | |
| X | g.71224118C>G | CA413502282 | GJB1 | c.411C>G (p.Ile137Met) | |
| X | g.71224118C>T | CA516820910 | GJB1 | c.411C>T (p.Ile137=) | |
| X | g.71224119A>C | CA413502284 | GJB1 | c.412A>C (p.Ser138Arg) | |
| X | g.71224119A>G | CA413502285 | GJB1 | c.412A>G (p.Ser138Gly) | ClinVar |
| X | g.71224119A>T | CA413502288 | GJB1 | c.412A>T (p.Ser138Cys) | |
| X | g.71224120G>A | CA413502291 | GJB1 | c.413G>A (p.Ser138Asn) | ClinVar dbSNP |
| X | g.71224120G>C | CA413502293 | GJB1 | c.413G>C (p.Ser138Thr) | ClinVar |
| X | g.71224120G= | CA2436388354 | GJB1 | c.413G= (p.Ser138=) | |
| X | g.71224120G>T | CA413502294 | GJB1 | c.413G>T (p.Ser138Ile) | dbSNP |
| X | g.71224121C>A | CA413502297 | GJB1 | c.414C>A (p.Ser138Arg) | |
| X | g.71224121C= | CA2436388355 | GJB1 | c.414C= (p.Ser138=) | |
| X | g.71224121C>G | CA413502296 | GJB1 | c.414C>G (p.Ser138Arg) | |
| X | g.71224121C>T | CA516820911 | GJB1 | c.414C>T (p.Ser138=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224122G>A | CA340967 | GJB1 | c.415G>A (p.Val139Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224122G>C | CA413502302 | GJB1 | c.415G>C (p.Val139Leu) | |
| X | g.71224122G= | CA2436388356 | GJB1 | c.415G= (p.Val139=) | |
| X | g.71224122G>T | CA413502309 | GJB1 | c.415G>T (p.Val139Leu) | |
| X | g.71224123T>A | CA413502312 | GJB1 | c.416T>A (p.Val139Glu) | |
| X | g.71224123T>C | CA413502313 | GJB1 | c.416T>C (p.Val139Ala) | |
| X | g.71224123T>G | CA413502316 | GJB1 | c.416T>G (p.Val139Gly) | ClinVar dbSNP |
| X | g.71224124G>A | CA516820912 | GJB1 | c.417G>A (p.Val139=) | |
| X | g.71224124G>C | CA516820913 | GJB1 | c.417G>C (p.Val139=) | |
| X | g.71224124G>T | CA516820914 | GJB1 | c.417G>T (p.Val139=) | |
| X | g.71224125G>A | CA413502319 | GJB1 | c.418G>A (p.Val140Met) | |
| X | g.71224125G>C | CA413502321 | GJB1 | c.418G>C (p.Val140Leu) | |
| X | g.71224125G>T | CA413502320 | GJB1 | c.418G>T (p.Val140Leu) | |
| X | g.71224126T>A | CA413502324 | GJB1 | c.419T>A (p.Val140Glu) | ClinVar dbSNP |
| X | g.71224126T>C | CA330997756 | GJB1 | c.419T>C (p.Val140Ala) | dbSNP |
| X | g.71224126T>G | CA413502328 | GJB1 | c.419T>G (p.Val140Gly) | |
| X | g.71224126T= | CA2436388357 | GJB1 | c.419T= (p.Val140=) | |
| X | g.71224127G>A | CA516820915 | GJB1 | c.420G>A (p.Val140=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224127G>C | CA516820916 | GJB1 | c.420G>C (p.Val140=) | |
| X | g.71224127G>T | CA516820917 | GJB1 | c.420G>T (p.Val140=) | |
| X | g.71224128T>A | CA413502333 | GJB1 | c.421T>A (p.Phe141Ile) | |
| X | g.71224128T>C | CA413502334 | GJB1 | c.421T>C (p.Phe141Leu) | |
| X | g.71224128T>G | CA413502336 | GJB1 | c.421T>G (p.Phe141Val) | |
| X | g.71224129T>A | CA413502338 | GJB1 | c.422T>A (p.Phe141Tyr) | |
| X | g.71224129T>C | CA413502340 | GJB1 | c.422T>C (p.Phe141Ser) | |
| X | g.71224129T>G | CA413502343 | GJB1 | c.422T>G (p.Phe141Cys) | |
| X | g.71224129_71224130delinsTC | CA2436388358 | GJB1 | c.422_423delinsTC (p.Phe141=) | |
| X | g.71224130C>A | CA413502345 | GJB1 | c.423C>A (p.Phe141Leu) | |
| X | g.71224130C= | CA2436388359 | GJB1 | c.423C= (p.Phe141=) | |
| X | g.71224130C>G | CA413502347 | GJB1 | c.423C>G (p.Phe141Leu) | ClinVar dbSNP |
| X | g.71224130C>T | CA516820918 | GJB1 | c.423C>T (p.Phe141=) | ClinVar |
| X | g.71224131del | CA915951199 | GJB1 | c.424del (p.Arg142GlyfsTer?) | ClinVar dbSNP |
| X | g.71224131C>A | CA516820919 | GJB1 | c.424C>A (p.Arg142=) | |
| X | g.71224131C= | CA2436388360 | GJB1 | c.424C= (p.Arg142=) | |
| X | g.71224131C>G | CA413502350 | GJB1 | c.424C>G (p.Arg142Gly) | |
| X | g.71224131C>T | CA255229 | GJB1 | c.424C>T (p.Arg142Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224132G>A | CA334230 | GJB1 | c.425G>A (p.Arg142Gln) | ClinVar dbSNP |
| X | g.71224132G>C | CA413502354 | GJB1 | c.425G>C (p.Arg142Pro) | |
| X | g.71224132G= | CA2436388361 | GJB1 | c.425G= (p.Arg142=) | |
| X | g.71224132G>T | CA413502356 | GJB1 | c.425G>T (p.Arg142Leu) | |
| X | g.71224133G>A | CA516820923 | GJB1 | c.426G>A (p.Arg142=) | |
| X | g.71224133G>C | CA516820924 | GJB1 | c.426G>C (p.Arg142=) | |
| X | g.71224133G>T | CA516820922 | GJB1 | c.426G>T (p.Arg142=) | |
| X | g.71224134C>A | CA413502359 | GJB1 | c.427C>A (p.Leu143Met) | |
| X | g.71224134C>G | CA413502362 | GJB1 | c.427C>G (p.Leu143Val) | |
| X | g.71224134C>T | CA516820925 | GJB1 | c.427C>T (p.Leu143=) | |
| X | g.71224134_71224137delinsCTGT | CA2436388362 | GJB1 | c.427_430delinsCTGT (p.Leu143=) | |
| X | g.71224135T>A | CA413502366 | GJB1 | c.428T>A (p.Leu143Gln) | |
| X | g.71224135T>C | CA413502367 | GJB1 | c.428T>C (p.Leu143Pro) | ClinVar dbSNP |
| X | g.71224135T>G | CA413502371 | GJB1 | c.428T>G (p.Leu143Arg) | ClinVar |
| X | g.71224135T= | CA2436388363 | GJB1 | c.428T= (p.Leu143=) | |
| X | g.71224139_71224141del | CA915951200 | GJB1 | c.432_434del (p.Leu144del) | ClinVar dbSNP |
| X | g.71224136G>A | CA516820931 | GJB1 | c.429G>A (p.Leu143=) | gnomAD v4 |
| X | g.71224136G>C | CA516820928 | GJB1 | c.429G>C (p.Leu143=) | |
| X | g.71224136G>T | CA516820930 | GJB1 | c.429G>T (p.Leu143=) | |
| X | g.71224137T>A | CA413502373 | GJB1 | c.430T>A (p.Leu144Met) | |
| X | g.71224137T>C | CA516820932 | GJB1 | c.430T>C (p.Leu144=) | ClinVar dbSNP gnomAD v4 |
| X | g.71224137T>G | CA413502380 | GJB1 | c.430T>G (p.Leu144Val) | |
| X | g.71224137T= | CA2436388364 | GJB1 | c.430T= (p.Leu144=) | |
| X | g.71224138T>A | CA413502384 | GJB1 | c.431T>A (p.Leu144Ter) | |
| X | g.71224138T>C | CA413502386 | GJB1 | c.431T>C (p.Leu144Ser) | |
| X | g.71224138T>G | CA413502388 | GJB1 | c.431T>G (p.Leu144Trp) | |
| X | g.71224139G>A | CA516820933 | GJB1 | c.432G>A (p.Leu144=) | |
| X | g.71224139G>C | CA413502390 | GJB1 | c.432G>C (p.Leu144Phe) | |
| X | g.71224139G>T | CA413502393 | GJB1 | c.432G>T (p.Leu144Phe) | |
| X | g.71224140T>A | CA413502397 | GJB1 | c.433T>A (p.Phe145Ile) | |
| X | g.71224140T>C | CA413502399 | GJB1 | c.433T>C (p.Phe145Leu) | |
| X | g.71224140T>G | CA413502398 | GJB1 | c.433T>G (p.Phe145Val) | |
| X | g.71224142del | CA2697553167 | GJB1 | c.435del (p.Phe145LeufsTer?) | ClinVar |
| X | g.71224141T>A | CA413502402 | GJB1 | c.434T>A (p.Phe145Tyr) | |
| X | g.71224141T>C | CA413502405 | GJB1 | c.434T>C (p.Phe145Ser) | |
| X | g.71224141T>G | CA413502407 | GJB1 | c.434T>G (p.Phe145Cys) | ClinVar dbSNP |
| X | g.71224141T= | CA2436388365 | GJB1 | c.434T= (p.Phe145=) | |
| X | g.71224142T>A | CA413502410 | GJB1 | c.435T>A (p.Phe145Leu) | |
| X | g.71224142T>C | CA516820936 | GJB1 | c.435T>C (p.Phe145=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224142T>G | CA413502413 | GJB1 | c.435T>G (p.Phe145Leu) | |
| X | g.71224142T= | CA2436388366 | GJB1 | c.435T= (p.Phe145=) | |
| X | g.71224143G>A | CA413502415 | GJB1 | c.436G>A (p.Glu146Lys) | ClinVar dbSNP |
| X | g.71224143G>C | CA413502418 | GJB1 | c.436G>C (p.Glu146Gln) | ClinVar dbSNP |
| X | g.71224143G= | CA2436388367 | GJB1 | c.436G= (p.Glu146=) | |
| X | g.71224143G>T | CA413502420 | GJB1 | c.436G>T (p.Glu146Ter) | |
| X | g.71224143_71224144delinsAT | CA915951201 | GJB1 | c.436_437delinsAT (p.Glu146Met) | ClinVar dbSNP |
| X | g.71224143_71224144delinsGA | CA2436388368 | GJB1 | c.436_437delinsGA (p.Glu146=) | |
| X | g.71224144A= | CA2436388369 | GJB1 | c.437A= (p.Glu146=) | |
| X | g.71224144A>C | CA413502423 | GJB1 | c.437A>C (p.Glu146Ala) | ClinVar dbSNP |
| X | g.71224144A>G | CA413502428 | GJB1 | c.437A>G (p.Glu146Gly) | |
| X | g.71224144A>T | CA413502430 | GJB1 | c.437A>T (p.Glu146Val) | |
| X | g.71224144_71224145delinsAG | CA2436388370 | GJB1 | c.437_438delinsAG (p.Glu146=) | |
| X | g.71224145G>A | CA10445299 | GJB1 | c.438G>A (p.Glu146=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224145G>C | CA413502433 | GJB1 | c.438G>C (p.Glu146Asp) | |
| X | g.71224145G= | CA2436388371 | GJB1 | c.438G= (p.Glu146=) | |
| X | g.71224145G>T | CA413502431 | GJB1 | c.438G>T (p.Glu146Asp) | |
| X | g.71224146del | CA915951202 | GJB1 | c.439del (p.Ala147ProfsTer?) | ClinVar dbSNP |
| X | g.71224146G>A | CA10584641 | GJB1 | c.439G>A (p.Ala147Thr) | ClinVar dbSNP |
| X | g.71224146G>C | CA413502447 | GJB1 | c.439G>C (p.Ala147Pro) | |
| X | g.71224146G= | CA2436388372 | GJB1 | c.439G= (p.Ala147=) | |
| X | g.71224146G>T | CA10445300 | GJB1 | c.439G>T (p.Ala147Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224147C>A | CA413502456 | GJB1 | c.440C>A (p.Ala147Asp) | ClinVar dbSNP |
| X | g.71224147C= | CA2436388373 | GJB1 | c.440C= (p.Ala147=) | |
| X | g.71224147C>G | CA413502461 | GJB1 | c.440C>G (p.Ala147Gly) | |
| X | g.71224147C>T | CA413502458 | GJB1 | c.440C>T (p.Ala147Val) | |
| X | g.71224148C>A | CA516820941 | GJB1 | c.441C>A (p.Ala147=) | dbSNP gnomAD v2 |
| X | g.71224148C= | CA2436388374 | GJB1 | c.441C= (p.Ala147=) | |
| X | g.71224148C>G | CA516820942 | GJB1 | c.441C>G (p.Ala147=) | |
| X | g.71224148C>T | CA10445301 | GJB1 | c.441C>T (p.Ala147=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224149G>A | CA10445302 | GJB1 | c.442G>A (p.Val148Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224149G>C | CA413502467 | GJB1 | c.442G>C (p.Val148Leu) | |
| X | g.71224149G= | CA2436388376 | GJB1 | c.442G= (p.Val148=) | |
| X | g.71224149G>T | CA413502470 | GJB1 | c.442G>T (p.Val148Phe) | |
| X | g.71224149_71224153delinsGTCTT | CA2436388375 | GJB1 | c.442_446delinsGTCTT (p.Val148=) | |
| X | g.71224150T>A | CA413502480 | GJB1 | c.443T>A (p.Val148Asp) | |
| X | g.71224150T>C | CA413502482 | GJB1 | c.443T>C (p.Val148Ala) | |
| X | g.71224150T>G | CA413502484 | GJB1 | c.443T>G (p.Val148Gly) | |
| X | g.71224150_71224153delinsGAACAC | CA1139667645 | GJB1 | c.443_446delinsGAACAC (p.Val148GlyfsTer?) | ClinVar dbSNP |
| X | g.71224151C>A | CA516820943 | GJB1 | c.444C>A (p.Val148=) | |
| X | g.71224151C>G | CA516820944 | GJB1 | c.444C>G (p.Val148=) | |
| X | g.71224151C>T | CA516820946 | GJB1 | c.444C>T (p.Val148=) | |
| X | g.71224152T>A | CA413502487 | GJB1 | c.445T>A (p.Phe149Ile) | ClinVar dbSNP |
| X | g.71224152T>C | CA413502489 | GJB1 | c.445T>C (p.Phe149Leu) | |
| X | g.71224152T>G | CA413502492 | GJB1 | c.445T>G (p.Phe149Val) | ClinVar dbSNP |
| X | g.71224152T= | CA2436388377 | GJB1 | c.445T= (p.Phe149=) | |
| X | g.71224153T>A | CA413502501 | GJB1 | c.446T>A (p.Phe149Tyr) | |
| X | g.71224153T>C | CA413502503 | GJB1 | c.446T>C (p.Phe149Ser) | |
| X | g.71224153T>G | CA413502505 | GJB1 | c.446T>G (p.Phe149Cys) | |
| X | g.71224154C>A | CA413502508 | GJB1 | c.447C>A (p.Phe149Leu) | ClinVar dbSNP |
| X | g.71224154C>G | CA413502511 | GJB1 | c.447C>G (p.Phe149Leu) | |
| X | g.71224154C>T | CA516820950 | GJB1 | c.447C>T (p.Phe149=) | |
| X | g.71224155A>C | CA413502517 | GJB1 | c.448A>C (p.Met150Leu) | |
| X | g.71224155A>G | CA413502522 | GJB1 | c.448A>G (p.Met150Val) | ClinVar dbSNP |
| X | g.71224155A>T | CA413502519 | GJB1 | c.448A>T (p.Met150Leu) | |
| X | g.71224156T>A | CA413502524 | GJB1 | c.449T>A (p.Met150Lys) | |
| X | g.71224156T>C | CA10445303 | GJB1 | c.449T>C (p.Met150Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224156T>G | CA413502528 | GJB1 | c.449T>G (p.Met150Arg) | ClinVar dbSNP |
| X | g.71224156T= | CA2436388378 | GJB1 | c.449T= (p.Met150=) | |
| X | g.71224157del | CA2697553168 | GJB1 | c.450del (p.Met150IlefsTer?) | ClinVar |
| X | g.71224157G>A | CA413502531 | GJB1 | c.450G>A (p.Met150Ile) | |
| X | g.71224157G>C | CA413502532 | GJB1 | c.450G>C (p.Met150Ile) | |
| X | g.71224157G>T | CA413502533 | GJB1 | c.450G>T (p.Met150Ile) | |
| X | g.71224158T>A | CA413502536 | GJB1 | c.451T>A (p.Tyr151Asn) | ClinVar dbSNP |
| X | g.71224158T>C | CA413502539 | GJB1 | c.451T>C (p.Tyr151His) | ClinVar dbSNP |
| X | g.71224158T>G | CA413502540 | GJB1 | c.451T>G (p.Tyr151Asp) | |
| X | g.71224158T= | CA2436388379 | GJB1 | c.451T= (p.Tyr151=) | |
| X | g.71224159A>C | CA413502543 | GJB1 | c.452A>C (p.Tyr151Ser) | |
| X | g.71224159A>G | CA413502542 | GJB1 | c.452A>G (p.Tyr151Cys) | |
| X | g.71224159A>T | CA413502541 | GJB1 | c.452A>T (p.Tyr151Phe) | |
| X | g.71224160T>A | CA413502544 | GJB1 | c.453T>A (p.Tyr151Ter) | |
| X | g.71224160T>C | CA516820956 | GJB1 | c.453T>C (p.Tyr151=) | gnomAD v4 |
| X | g.71224160T>G | CA413502546 | GJB1 | c.453T>G (p.Tyr151Ter) | |
| X | g.71224160_71224161delinsTG | CA2436388380 | GJB1 | c.453_454delinsTG (p.Tyr151=) | |
| X | g.71224161del | CA915951203 | GJB1 | c.454del (p.Val152SerfsTer?) | ClinVar dbSNP |
| X | g.71224161G>A | CA10445304 | GJB1 | c.454G>A (p.Val152Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224161G>C | CA413502548 | GJB1 | c.454G>C (p.Val152Leu) | |
| X | g.71224161G= | CA2436388381 | GJB1 | c.454G= (p.Val152=) | |
| X | g.71224161G>T | CA413502549 | GJB1 | c.454G>T (p.Val152Phe) | |
| X | g.71224162T>A | CA413502552 | GJB1 | c.455T>A (p.Val152Asp) | ClinVar dbSNP |
| X | g.71224162T>C | CA413502553 | GJB1 | c.455T>C (p.Val152Ala) | ClinVar |
| X | g.71224162T>G | CA413502556 | GJB1 | c.455T>G (p.Val152Gly) | |
| X | g.71224162T= | CA2436388382 | GJB1 | c.455T= (p.Val152=) | |
| X | g.71224163_71224164dup | CA2697553169 | GJB1 | c.456_457dup (p.Phe153SerfsTer?) | ClinVar |
| X | g.71224163C>A | CA516820962 | GJB1 | c.456C>A (p.Val152=) | gnomAD v4 |
| X | g.71224163C>G | CA516820963 | GJB1 | c.456C>G (p.Val152=) | |
| X | g.71224163C>T | CA516820964 | GJB1 | c.456C>T (p.Val152=) | |
| X | g.71224163_71224165delinsCTT | CA2436388383 | GJB1 | c.456_458delinsCTT (p.Val152=) | |
| X | g.71224164T>A | CA413502559 | GJB1 | c.457T>A (p.Phe153Ile) | |
| X | g.71224164T>C | CA413502560 | GJB1 | c.457T>C (p.Phe153Leu) | |
| X | g.71224164T>G | CA413502563 | GJB1 | c.457T>G (p.Phe153Val) | |
| X | g.71224166_71224167del | CA915951204 | GJB1 | c.459_460del (p.Phe153LeufsTer?) | ClinVar dbSNP |
| X | g.71224165T>A | CA413502566 | GJB1 | c.458T>A (p.Phe153Tyr) | |
| X | g.71224165T>C | CA413502565 | GJB1 | c.458T>C (p.Phe153Ser) | ClinVar dbSNP |
| X | g.71224165T>G | CA413502564 | GJB1 | c.458T>G (p.Phe153Cys) | ClinVar dbSNP |
| X | g.71224165T= | CA2436388384 | GJB1 | c.458T= (p.Phe153=) | |
| X | g.71224166T>A | CA413502569 | GJB1 | c.459T>A (p.Phe153Leu) | |
| X | g.71224166T>C | CA516820969 | GJB1 | c.459T>C (p.Phe153=) | dbSNP |
| X | g.71224166T>G | CA413502570 | GJB1 | c.459T>G (p.Phe153Leu) | |
| X | g.71224166T= | CA2436388385 | GJB1 | c.459T= (p.Phe153=) | |
| X | g.71224167T>A | CA413502572 | GJB1 | c.460T>A (p.Tyr154Asn) | |
| X | g.71224167T>C | CA413502575 | GJB1 | c.460T>C (p.Tyr154His) | |
| X | g.71224167T>G | CA413502578 | GJB1 | c.460T>G (p.Tyr154Asp) | |
| X | g.71224168_71224171dup | CA2499226845 | GJB1 | c.461_464dup (p.Leu156SerfsTer?) | ClinVar dbSNP |
| X | g.71224168A= | CA2436388386 | GJB1 | c.461A= (p.Tyr154=) | |
| X | g.71224168A>C | CA413502582 | GJB1 | c.461A>C (p.Tyr154Ser) | |
| X | g.71224168A>G | CA413502587 | GJB1 | c.461A>G (p.Tyr154Cys) | ClinVar dbSNP |
| X | g.71224168A>T | CA413502593 | GJB1 | c.461A>T (p.Tyr154Phe) | |
| X | g.71224169T>A | CA413502596 | GJB1 | c.462T>A (p.Tyr154Ter) | ClinVar |
| X | g.71224169T>C | CA516820973 | GJB1 | c.462T>C (p.Tyr154=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224169T>G | CA10584642 | GJB1 | c.462T>G (p.Tyr154Ter) | ClinVar dbSNP |
| X | g.71224169T= | CA2436388387 | GJB1 | c.462T= (p.Tyr154=) | |
| X | g.71224170C>A | CA10654378 | GJB1 | c.463C>A (p.Leu155Met) | ClinVar dbSNP gnomAD v4 |
| X | g.71224170C= | CA2436388388 | GJB1 | c.463C= (p.Leu155=) | |
| X | g.71224170C>G | CA413502606 | GJB1 | c.463C>G (p.Leu155Val) | |
| X | g.71224170C>T | CA516820975 | GJB1 | c.463C>T (p.Leu155=) | |
| X | g.71224173_71224182del | CA2695234567 | GJB1 | c.466_475del (p.Leu156AlafsTer?) | |
| X | g.71224171T>A | CA413502611 | GJB1 | c.464T>A (p.Leu155Gln) | |
| X | g.71224171T>C | CA413502615 | GJB1 | c.464T>C (p.Leu155Pro) | |
| X | g.71224171T>G | CA413502610 | GJB1 | c.464T>G (p.Leu155Arg) | |
| X | g.71224172G>A | CA516820979 | GJB1 | c.465G>A (p.Leu155=) | |
| X | g.71224172G>C | CA516820978 | GJB1 | c.465G>C (p.Leu155=) | |
| X | g.71224172G>T | CA516820977 | GJB1 | c.465G>T (p.Leu155=) | |
| X | g.71224172_71224174delinsGCT | CA2436388389 | GJB1 | c.465_467delinsGCT (p.Leu155=) | |
| X | g.71224173C>A | CA413502618 | GJB1 | c.466C>A (p.Leu156Ile) | |
| X | g.71224173C= | CA2436388390 | GJB1 | c.466C= (p.Leu156=) | |
| X | g.71224173C>G | CA413502621 | GJB1 | c.466C>G (p.Leu156Val) | |
| X | g.71224173C>T | CA413502625 | GJB1 | c.466C>T (p.Leu156Phe) | ClinVar dbSNP |
| X | g.71224175_71224176del | CA915951205 | GJB1 | c.468_469del (p.Tyr157ProfsTer?) | ClinVar dbSNP |
| X | g.71224174T>A | CA413502628 | GJB1 | c.467T>A (p.Leu156His) | ClinVar dbSNP |
| X | g.71224174T>C | CA413502630 | GJB1 | c.467T>C (p.Leu156Pro) | |
| X | g.71224174T>G | CA255245 | GJB1 | c.467T>G (p.Leu156Arg) | ClinVar dbSNP |
| X | g.71224174T= | CA2436388391 | GJB1 | c.467T= (p.Leu156=) | |
| X | g.71224175C>A | CA516820983 | GJB1 | c.468C>A (p.Leu156=) | |
| X | g.71224175C>G | CA516820984 | GJB1 | c.468C>G (p.Leu156=) | gnomAD v4 |
| X | g.71224175C>T | CA516820985 | GJB1 | c.468C>T (p.Leu156=) | |
| X | g.71224176T>A | CA413502639 | GJB1 | c.469T>A (p.Tyr157Asn) | |
| X | g.71224176T>C | CA413502635 | GJB1 | c.469T>C (p.Tyr157His) | |
| X | g.71224176T>G | CA413502637 | GJB1 | c.469T>G (p.Tyr157Asp) | |
| X | g.71224177A= | CA2436388392 | GJB1 | c.470A= (p.Tyr157=) | |
| X | g.71224177A>C | CA413502640 | GJB1 | c.470A>C (p.Tyr157Ser) | |
| X | g.71224177A>G | CA413502643 | GJB1 | c.470A>G (p.Tyr157Cys) | ClinVar dbSNP |
| X | g.71224177A>T | CA413502645 | GJB1 | c.470A>T (p.Tyr157Phe) | |
| X | g.71224178C>A | CA413502648 | GJB1 | c.471C>A (p.Tyr157Ter) | |
| X | g.71224178C>G | CA413502654 | GJB1 | c.471C>G (p.Tyr157Ter) | |
| X | g.71224178C>T | CA516820991 | GJB1 | c.471C>T (p.Tyr157=) | gnomAD v4 |
| X | g.71224179C>A | CA413502657 | GJB1 | c.472C>A (p.Pro158Thr) | |
| X | g.71224179C= | CA2436388393 | GJB1 | c.472C= (p.Pro158=) | |
| X | g.71224179C>G | CA413502661 | GJB1 | c.472C>G (p.Pro158Ala) | ClinVar dbSNP |
| X | g.71224179C>T | CA413502659 | GJB1 | c.472C>T (p.Pro158Ser) | ClinVar dbSNP |
| X | g.71224180C>A | CA413502665 | GJB1 | c.473C>A (p.Pro158His) | gnomAD v4 |
| X | g.71224180C= | CA2436388394 | GJB1 | c.473C= (p.Pro158=) | |
| X | g.71224180C>G | CA413502668 | GJB1 | c.473C>G (p.Pro158Arg) | ClinVar dbSNP |
| X | g.71224180C>T | CA413502670 | GJB1 | c.473C>T (p.Pro158Leu) | ClinVar dbSNP |
| X | g.71224180_71224181delinsCT | CA2436388395 | GJB1 | c.473_474delinsCT (p.Pro158=) | |
| X | g.71224181del | CA915951206 | GJB1 | c.474del (p.Gly159AlafsTer?) | ClinVar dbSNP |
| X | g.71224181T>A | CA516820995 | GJB1 | c.474T>A (p.Pro158=) | |
| X | g.71224181T>C | CA516820996 | GJB1 | c.474T>C (p.Pro158=) | dbSNP |
| X | g.71224181T>G | CA516820998 | GJB1 | c.474T>G (p.Pro158=) | |
| X | g.71224181T= | CA2436388396 | GJB1 | c.474T= (p.Pro158=) | |
| X | g.71224183_71224188del | CA2695234568 | GJB1 | c.476_481del (p.Gly159_Tyr160del) | |
| X | g.71224182G>A | CA413502674 | GJB1 | c.475G>A (p.Gly159Ser) | ClinVar dbSNP |
| X | g.71224182G>C | CA413502677 | GJB1 | c.475G>C (p.Gly159Arg) | |
| X | g.71224182G= | CA2436388397 | GJB1 | c.475G= (p.Gly159=) | |
| X | g.71224182G>T | CA413502679 | GJB1 | c.475G>T (p.Gly159Cys) | |
| X | g.71224183G>A | CA413502681 | GJB1 | c.476G>A (p.Gly159Asp) | ClinVar dbSNP |
| X | g.71224183G>C | CA413502682 | GJB1 | c.476G>C (p.Gly159Ala) | |
| X | g.71224183G= | CA2436388398 | GJB1 | c.476G= (p.Gly159=) | |
| X | g.71224183G>T | CA413502685 | GJB1 | c.476G>T (p.Gly159Val) | |
| X | g.71224184C>A | CA516821008 | GJB1 | c.477C>A (p.Gly159=) | COSMIC |
| X | g.71224184C>G | CA516821011 | GJB1 | c.477C>G (p.Gly159=) | |
| X | g.71224184C>T | CA516821013 | GJB1 | c.477C>T (p.Gly159=) | gnomAD v4 |
| X | g.71224185T>A | CA413502687 | GJB1 | c.478T>A (p.Tyr160Asn) | |
| X | g.71224185T>C | CA413502688 | GJB1 | c.478T>C (p.Tyr160His) | ClinVar dbSNP |
| X | g.71224185T>G | CA413502690 | GJB1 | c.478T>G (p.Tyr160Asp) | |
| X | g.71224185T= | CA2436388399 | GJB1 | c.478T= (p.Tyr160=) | |
| X | g.71224186A= | CA2436388400 | GJB1 | c.479A= (p.Tyr160=) | |
| X | g.71224186A>C | CA413502692 | GJB1 | c.479A>C (p.Tyr160Ser) | |
| X | g.71224186A>G | CA413502696 | GJB1 | c.479A>G (p.Tyr160Cys) | ClinVar dbSNP |
| X | g.71224186A>T | CA413502694 | GJB1 | c.479A>T (p.Tyr160Phe) | |
| X | g.71224187T>A | CA413502699 | GJB1 | c.480T>A (p.Tyr160Ter) | |
| X | g.71224187T>C | CA516821019 | GJB1 | c.480T>C (p.Tyr160=) | ClinVar |
| X | g.71224187T>G | CA413502702 | GJB1 | c.480T>G (p.Tyr160Ter) | |
| X | g.71224188G>A | CA413502704 | GJB1 | c.481G>A (p.Ala161Thr) | |
| X | g.71224188G>C | CA413502707 | GJB1 | c.481G>C (p.Ala161Pro) | ClinVar dbSNP |
| X | g.71224188G= | CA2436388401 | GJB1 | c.481G= (p.Ala161=) | |
| X | g.71224188G>T | CA413502710 | GJB1 | c.481G>T (p.Ala161Ser) | |
| X | g.71224189C>A | CA413502716 | GJB1 | c.482C>A (p.Ala161Asp) | ClinVar dbSNP |
| X | g.71224189C= | CA2436388402 | GJB1 | c.482C= (p.Ala161=) | |
| X | g.71224189C>G | CA413502714 | GJB1 | c.482C>G (p.Ala161Gly) | |
| X | g.71224189C>T | CA413502712 | GJB1 | c.482C>T (p.Ala161Val) | |
| X | g.71224190C>A | CA516821021 | GJB1 | c.483C>A (p.Ala161=) | |
| X | g.71224190C= | CA2436388403 | GJB1 | c.483C= (p.Ala161=) | |
| X | g.71224190C>G | CA516821022 | GJB1 | c.483C>G (p.Ala161=) | |
| X | g.71224190C>T | CA516821023 | GJB1 | c.483C>T (p.Ala161=) | ClinVar dbSNP |
| X | g.71224191del | CA2573159493 | GJB1 | c.484del (p.Met162TrpfsTer?) | ClinVar dbSNP |
| X | g.71224191A>C | CA413502717 | GJB1 | c.484A>C (p.Met162Leu) | |
| X | g.71224191A>G | CA413502719 | GJB1 | c.484A>G (p.Met162Val) | |
| X | g.71224191A>T | CA413502721 | GJB1 | c.484A>T (p.Met162Leu) | |
| X | g.71224191dup | CA915951207 | GJB1 | c.484dup (p.Met162AsnfsTer?) | ClinVar dbSNP |
| X | g.71224192T>A | CA413502725 | GJB1 | c.485T>A (p.Met162Lys) | |
| X | g.71224192T>C | CA413502727 | GJB1 | c.485T>C (p.Met162Thr) | gnomAD v4 |
| X | g.71224192T>G | CA413502729 | GJB1 | c.485T>G (p.Met162Arg) | |
| X | g.71224193G>A | CA413502732 | GJB1 | c.486G>A (p.Met162Ile) | |
| X | g.71224193G>C | CA413502735 | GJB1 | c.486G>C (p.Met162Ile) | |
| X | g.71224193G>T | CA413502733 | GJB1 | c.486G>T (p.Met162Ile) | gnomAD v4 |
| X | g.71224194G>A | CA413502738 | GJB1 | c.487G>A (p.Val163Met) | |
| X | g.71224194G>C | CA413502740 | GJB1 | c.487G>C (p.Val163Leu) | |
| X | g.71224194G>T | CA413502743 | GJB1 | c.487G>T (p.Val163Leu) | |
| X | g.71224195T>A | CA413502745 | GJB1 | c.488T>A (p.Val163Glu) | |
| X | g.71224195T>C | CA413502747 | GJB1 | c.488T>C (p.Val163Ala) | |
| X | g.71224195T>G | CA413502749 | GJB1 | c.488T>G (p.Val163Gly) |