OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71224215_71224258dup | CA1139667646 | GJB1 | c.508_551dup (p.Thr185SerfsTer26) | ClinVar dbSNP |
| X | g.71224219A= | CA2436388421 | GJB1 | c.512A= (p.Tyr171=) | |
| X | g.71224219A>C | CA413502891 | GJB1 | c.512A>C (p.Tyr171Ser) | |
| X | g.71224219A>G | CA10445312 | GJB1 | c.512A>G (p.Tyr171Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224219A>T | CA413502894 | GJB1 | c.512A>T (p.Tyr171Phe) | dbSNP |
| X | g.71224220C>A | CA413502896 | GJB1 | c.513C>A (p.Tyr171Ter) | gnomAD v4 |
| X | g.71224220C= | CA2436388422 | GJB1 | c.513C= (p.Tyr171=) | |
| X | g.71224220C>G | CA413502899 | GJB1 | c.513C>G (p.Tyr171Ter) | ClinVar dbSNP |
| X | g.71224220C>T | CA516821077 | GJB1 | c.513C>T (p.Tyr171=) | |
| X | g.71224221C>A | CA413502902 | GJB1 | c.514C>A (p.Pro172Thr) | |
| X | g.71224221C= | CA2436388423 | GJB1 | c.514C= (p.Pro172=) | |
| X | g.71224221C>G | CA413502905 | GJB1 | c.514C>G (p.Pro172Ala) | ClinVar dbSNP |
| X | g.71224221C>T | CA255232 | GJB1 | c.514C>T (p.Pro172Ser) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71224222C>A | CA413502909 | GJB1 | c.515C>A (p.Pro172His) | |
| X | g.71224222C= | CA2436388424 | GJB1 | c.515C= (p.Pro172=) | |
| X | g.71224222C>G | CA413502912 | GJB1 | c.515C>G (p.Pro172Arg) | ClinVar dbSNP |
| X | g.71224222C>T | CA413502914 | GJB1 | c.515C>T (p.Pro172Leu) | ClinVar dbSNP |
| X | g.71224223C>A | CA516821081 | GJB1 | c.516C>A (p.Pro172=) | |
| X | g.71224223C>G | CA516821083 | GJB1 | c.516C>G (p.Pro172=) | |
| X | g.71224223C>T | CA516821085 | GJB1 | c.516C>T (p.Pro172=) | |
| X | g.71224224T>A | CA413502918 | GJB1 | c.517T>A (p.Cys173Ser) | |
| X | g.71224224T>C | CA413502920 | GJB1 | c.517T>C (p.Cys173Arg) | ClinVar dbSNP gnomAD v4 |
| X | g.71224224T>G | CA413502922 | GJB1 | c.517T>G (p.Cys173Gly) | |
| X | g.71224224T= | CA2436388425 | GJB1 | c.517T= (p.Cys173=) | |
| X | g.71224225G>A | CA413502925 | GJB1 | c.518G>A (p.Cys173Tyr) | |
| X | g.71224225G>C | CA413502926 | GJB1 | c.518G>C (p.Cys173Ser) | |
| X | g.71224225G= | CA2436388426 | GJB1 | c.518G= (p.Cys173=) | |
| X | g.71224225G>T | CA413502928 | GJB1 | c.518G>T (p.Cys173Phe) | ClinVar dbSNP |
| X | g.71224226C>A | CA413502931 | GJB1 | c.519C>A (p.Cys173Ter) | ClinVar dbSNP |
| X | g.71224226C= | CA2436388427 | GJB1 | c.519C= (p.Cys173=) | |
| X | g.71224226C>G | CA413502934 | GJB1 | c.519C>G (p.Cys173Trp) | |
| X | g.71224226C>T | CA516821091 | GJB1 | c.519C>T (p.Cys173=) | ClinVar dbSNP |
| X | g.71224227C>A | CA413502938 | GJB1 | c.520C>A (p.Pro174Thr) | |
| X | g.71224227C>G | CA413502943 | GJB1 | c.520C>G (p.Pro174Ala) | ClinVar dbSNP |
| X | g.71224227C>T | CA413502940 | GJB1 | c.520C>T (p.Pro174Ser) | |
| X | g.71224228C>A | CA413502947 | GJB1 | c.521C>A (p.Pro174His) | |
| X | g.71224228C= | CA2436388428 | GJB1 | c.521C= (p.Pro174=) | |
| X | g.71224228C>G | CA413502950 | GJB1 | c.521C>G (p.Pro174Arg) | ClinVar dbSNP |
| X | g.71224228C>T | CA413502952 | GJB1 | c.521C>T (p.Pro174Leu) | ClinVar dbSNP |
| X | g.71224229C>A | CA516821095 | GJB1 | c.522C>A (p.Pro174=) | |
| X | g.71224229C= | CA2436388429 | GJB1 | c.522C= (p.Pro174=) | |
| X | g.71224229C>G | CA516821099 | GJB1 | c.522C>G (p.Pro174=) | |
| X | g.71224229C>T | CA516821096 | GJB1 | c.522C>T (p.Pro174=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224230A= | CA2436388430 | GJB1 | c.523A= (p.Asn175=) | |
| X | g.71224230A>C | CA413502955 | GJB1 | c.523A>C (p.Asn175His) | |
| X | g.71224230A>G | CA413502958 | GJB1 | c.523A>G (p.Asn175Asp) | ClinVar dbSNP |
| X | g.71224230A>T | CA413502960 | GJB1 | c.523A>T (p.Asn175Tyr) | |
| X | g.71224231dup | CA891844221 | GJB1 | c.524dup (p.Asn175LysfsTer?) | ClinVar dbSNP |
| X | g.71224231A= | CA2436388431 | GJB1 | c.524A= (p.Asn175=) | |
| X | g.71224231A>C | CA413502962 | GJB1 | c.524A>C (p.Asn175Thr) | |
| X | g.71224231A>G | CA413502965 | GJB1 | c.524A>G (p.Asn175Ser) | ClinVar dbSNP |
| X | g.71224231A>T | CA413502967 | GJB1 | c.524A>T (p.Asn175Ile) | |
| X | g.71224232C>A | CA413502968 | GJB1 | c.525C>A (p.Asn175Lys) | gnomAD v4 |
| X | g.71224232C>G | CA413502977 | GJB1 | c.525C>G (p.Asn175Lys) | |
| X | g.71224232C>T | CA516821102 | GJB1 | c.525C>T (p.Asn175=) | |
| X | g.71224233_71224262dup | CA16621492 | GJB1 | c.526_555dup (p.Thr185_Glu186insThrValAspCysPheValSerArgProThr) | ClinVar dbSNP |
| X | g.71224233A>C | CA413502986 | GJB1 | c.526A>C (p.Thr176Pro) | ClinVar gnomAD v4 |
| X | g.71224233A>G | CA413502983 | GJB1 | c.526A>G (p.Thr176Ala) | ClinVar |
| X | g.71224233A>T | CA413502980 | GJB1 | c.526A>T (p.Thr176Ser) | |
| X | g.71224234C>A | CA413502989 | GJB1 | c.527C>A (p.Thr176Lys) | |
| X | g.71224234C= | CA2436388432 | GJB1 | c.527C= (p.Thr176=) | |
| X | g.71224234C>G | CA413502991 | GJB1 | c.527C>G (p.Thr176Arg) | |
| X | g.71224234C>T | CA413502993 | GJB1 | c.527C>T (p.Thr176Ile) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224235A= | CA2436388433 | GJB1 | c.528A= (p.Thr176=) | |
| X | g.71224235A>C | CA516821105 | GJB1 | c.528A>C (p.Thr176=) | |
| X | g.71224235A>G | CA516821108 | GJB1 | c.528A>G (p.Thr176=) | dbSNP gnomAD v4 |
| X | g.71224235A>T | CA516821110 | GJB1 | c.528A>T (p.Thr176=) | |
| X | g.71224235_71224237del | CA2695234569 | GJB1 | c.528_530del (p.Val177del) | |
| X | g.71224236G>A | CA413502996 | GJB1 | c.529G>A (p.Val177Met) | ClinVar dbSNP |
| X | g.71224236G>C | CA413502998 | GJB1 | c.529G>C (p.Val177Leu) | |
| X | g.71224236G= | CA2436388434 | GJB1 | c.529G= (p.Val177=) | |
| X | g.71224236G>T | CA413503000 | GJB1 | c.529G>T (p.Val177Leu) | |
| X | g.71224237T>A | CA413503003 | GJB1 | c.530T>A (p.Val177Glu) | ClinVar dbSNP |
| X | g.71224237T>C | CA413503005 | GJB1 | c.530T>C (p.Val177Ala) | ClinVar dbSNP |
| X | g.71224237T>G | CA413503006 | GJB1 | c.530T>G (p.Val177Gly) | |
| X | g.71224237T= | CA2436388435 | GJB1 | c.530T= (p.Val177=) | |
| X | g.71224238G>A | CA516821114 | GJB1 | c.531G>A (p.Val177=) | gnomAD v4 |
| X | g.71224238G>C | CA516821116 | GJB1 | c.531G>C (p.Val177=) | |
| X | g.71224238G= | CA2436388436 | GJB1 | c.531G= (p.Val177=) | |
| X | g.71224238G>T | CA516821117 | GJB1 | c.531G>T (p.Val177=) | |
| X | g.71224238_71224239insTTTTT | CA1134115365 | GJB1 | c.531_532insTTTTT (p.Asp178PhefsTer20) | gnomAD v3 gnomAD v4 |
| X | g.71224239G>A | CA413503011 | GJB1 | c.532G>A (p.Asp178Asn) | ClinVar dbSNP |
| X | g.71224239G>C | CA413503013 | GJB1 | c.532G>C (p.Asp178His) | |
| X | g.71224239G= | CA2436388437 | GJB1 | c.532G= (p.Asp178=) | |
| X | g.71224239G>T | CA413503015 | GJB1 | c.532G>T (p.Asp178Tyr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224240_71224243dup | CA915951209 | GJB1 | c.533_536dup (p.Cys179Ter) | ClinVar dbSNP |
| X | g.71224240A= | CA2436388438 | GJB1 | c.533A= (p.Asp178=) | |
| X | g.71224240A>C | CA413503022 | GJB1 | c.533A>C (p.Asp178Ala) | ClinVar dbSNP |
| X | g.71224240A>G | CA413503019 | GJB1 | c.533A>G (p.Asp178Gly) | ClinVar dbSNP |
| X | g.71224240A>T | CA413503017 | GJB1 | c.533A>T (p.Asp178Val) | ClinVar dbSNP |
| X | g.71224241C>A | CA413503023 | GJB1 | c.534C>A (p.Asp178Glu) | gnomAD v3 gnomAD v4 |
| X | g.71224241C>G | CA413503024 | GJB1 | c.534C>G (p.Asp178Glu) | |
| X | g.71224241C>T | CA516821122 | GJB1 | c.534C>T (p.Asp178=) | |
| X | g.71224242T>A | CA413503029 | GJB1 | c.535T>A (p.Cys179Ser) | |
| X | g.71224242T>C | CA413503031 | GJB1 | c.535T>C (p.Cys179Arg) | ClinVar dbSNP |
| X | g.71224242T>G | CA413503034 | GJB1 | c.535T>G (p.Cys179Gly) | ClinVar dbSNP |
| X | g.71224242T= | CA2436388439 | GJB1 | c.535T= (p.Cys179=) | |
| X | g.71224243G>A | CA341605 | GJB1 | c.536G>A (p.Cys179Tyr) | ClinVar dbSNP |
| X | g.71224243G>C | CA413503038 | GJB1 | c.536G>C (p.Cys179Ser) | |
| X | g.71224243G= | CA2436388440 | GJB1 | c.536G= (p.Cys179=) | |
| X | g.71224243G>T | CA413503041 | GJB1 | c.536G>T (p.Cys179Phe) | |
| X | g.71224244C>A | CA413503044 | GJB1 | c.537C>A (p.Cys179Ter) | gnomAD v3 gnomAD v4 |
| X | g.71224244C= | CA2436388441 | GJB1 | c.537C= (p.Cys179=) | |
| X | g.71224244C>G | CA413503047 | GJB1 | c.537C>G (p.Cys179Trp) | |
| X | g.71224244C>T | CA516821127 | GJB1 | c.537C>T (p.Cys179=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224245T>A | CA413503050 | GJB1 | c.538T>A (p.Phe180Ile) | |
| X | g.71224245T>C | CA413503052 | GJB1 | c.538T>C (p.Phe180Leu) | ClinVar dbSNP |
| X | g.71224245T>G | CA413503055 | GJB1 | c.538T>G (p.Phe180Val) | |
| X | g.71224245T= | CA2436388442 | GJB1 | c.538T= (p.Phe180=) | |
| X | g.71224246T>A | CA413503060 | GJB1 | c.539T>A (p.Phe180Tyr) | gnomAD v3 gnomAD v4 |
| X | g.71224246T>C | CA413503057 | GJB1 | c.539T>C (p.Phe180Ser) | ClinVar dbSNP |
| X | g.71224246T>G | CA413503059 | GJB1 | c.539T>G (p.Phe180Cys) | |
| X | g.71224246T= | CA2436388443 | GJB1 | c.539T= (p.Phe180=) | |
| X | g.71224247C>A | CA413503063 | GJB1 | c.540C>A (p.Phe180Leu) | gnomAD v4 |
| X | g.71224247C= | CA2436388444 | GJB1 | c.540C= (p.Phe180=) | |
| X | g.71224247C>G | CA413503066 | GJB1 | c.540C>G (p.Phe180Leu) | ClinVar dbSNP |
| X | g.71224247C>T | CA10445313 | GJB1 | c.540C>T (p.Phe180=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224248G>A | CA10584643 | GJB1 | c.541G>A (p.Val181Met) | ClinVar dbSNP |
| X | g.71224248G>C | CA413503072 | GJB1 | c.541G>C (p.Val181Leu) | ClinVar dbSNP |
| X | g.71224248G= | CA2436388445 | GJB1 | c.541G= (p.Val181=) | |
| X | g.71224248G>T | CA16616539 | GJB1 | c.541G>T (p.Val181Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71224249T>A | CA10577659 | GJB1 | c.542T>A (p.Val181Glu) | ClinVar dbSNP |
| X | g.71224249T>C | CA413503078 | GJB1 | c.542T>C (p.Val181Ala) | ClinVar dbSNP |
| X | g.71224249T>G | CA413503080 | GJB1 | c.542T>G (p.Val181Gly) | |
| X | g.71224249T= | CA2436388446 | GJB1 | c.542T= (p.Val181=) | |
| X | g.71224249_71224254del | CA1134115392 | GJB1 | c.542_547del (p.Val181_Arg183delinsGly) | gnomAD v3 gnomAD v4 |
| X | g.71224250G>A | CA516821139 | GJB1 | c.543G>A (p.Val181=) | |
| X | g.71224250G>C | CA516821138 | GJB1 | c.543G>C (p.Val181=) | |
| X | g.71224250G>T | CA516821136 | GJB1 | c.543G>T (p.Val181=) | |
| X | g.71224251T>A | CA413503088 | GJB1 | c.544T>A (p.Ser182Thr) | ClinVar dbSNP |
| X | g.71224251T>C | CA413503089 | GJB1 | c.544T>C (p.Ser182Pro) | |
| X | g.71224251T>G | CA413503093 | GJB1 | c.544T>G (p.Ser182Ala) | |
| X | g.71224251T= | CA2436388447 | GJB1 | c.544T= (p.Ser182=) | |
| X | g.71224252C>A | CA413503100 | GJB1 | c.545C>A (p.Ser182Tyr) | gnomAD v4 |
| X | g.71224252C= | CA2436388448 | GJB1 | c.545C= (p.Ser182=) | |
| X | g.71224252C>G | CA413503098 | GJB1 | c.545C>G (p.Ser182Cys) | ClinVar dbSNP |
| X | g.71224252C>T | CA413503096 | GJB1 | c.545C>T (p.Ser182Phe) | ClinVar dbSNP |
| X | g.71224254del | CA2694032256 | GJB1 | c.547del (p.Arg183AlafsTer13) | gnomAD v4 |
| X | g.71224253C>A | CA516821146 | GJB1 | c.546C>A (p.Ser182=) | gnomAD v4 |
| X | g.71224253C= | CA2436388449 | GJB1 | c.546C= (p.Ser182=) | |
| X | g.71224253C>G | CA516821147 | GJB1 | c.546C>G (p.Ser182=) | |
| X | g.71224253C>T | CA10445314 | GJB1 | c.546C>T (p.Ser182=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224254C>A | CA413503107 | GJB1 | c.547C>A (p.Arg183Ser) | ClinVar dbSNP gnomAD v4 |
| X | g.71224254C= | CA2436388450 | GJB1 | c.547C= (p.Arg183=) | |
| X | g.71224254C>G | CA413503106 | GJB1 | c.547C>G (p.Arg183Gly) | |
| X | g.71224254C>T | CA336920 | GJB1 | c.547C>T (p.Arg183Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.71224254_71224255delinsTT | CA2695234570 | GJB1 | c.547_548delinsTT (p.Arg183Phe) | |
| X | g.71224255G>A | CA413503111 | GJB1 | c.548G>A (p.Arg183His) | ClinVar dbSNP gnomAD v4 |
| X | g.71224255G>C | CA413503117 | GJB1 | c.548G>C (p.Arg183Pro) | ClinVar dbSNP |
| X | g.71224255G= | CA2436388451 | GJB1 | c.548G= (p.Arg183=) | |
| X | g.71224255G>T | CA413503114 | GJB1 | c.548G>T (p.Arg183Leu) | gnomAD v4 |
| X | g.71224256C>A | CA516821153 | GJB1 | c.549C>A (p.Arg183=) | gnomAD v4 |
| X | g.71224256C>G | CA516821155 | GJB1 | c.549C>G (p.Arg183=) | gnomAD v3 gnomAD v4 |
| X | g.71224256C>T | CA516821156 | GJB1 | c.549C>T (p.Arg183=) | gnomAD v4 |
| X | g.71224259del | CA2695234571 | GJB1 | c.552del (p.Thr185ProfsTer11) | |
| X | g.71224256_71224257insG | CA1134115405 | GJB1 | c.549_550insG (p.Pro184AlafsTer?) | gnomAD v3 gnomAD v4 |
| X | g.71224257C>A | CA413503119 | GJB1 | c.550C>A (p.Pro184Thr) | gnomAD v3 gnomAD v4 |
| X | g.71224257C>G | CA413503125 | GJB1 | c.550C>G (p.Pro184Ala) | gnomAD v4 |
| X | g.71224257C>T | CA413503122 | GJB1 | c.550C>T (p.Pro184Ser) | |
| X | g.71224257_71224260delinsCCCA | CA2436388452 | GJB1 | c.550_553delinsCCCA (p.Pro184=) | |
| X | g.71224258C>A | CA413503129 | GJB1 | c.551C>A (p.Pro184His) | gnomAD v4 |
| X | g.71224258C= | CA2436388453 | GJB1 | c.551C= (p.Pro184=) | |
| X | g.71224258C>G | CA413503130 | GJB1 | c.551C>G (p.Pro184Arg) | ClinVar dbSNP |
| X | g.71224258C>T | CA413503133 | GJB1 | c.551C>T (p.Pro184Leu) | |
| X | g.71224260_71224262del | CA915951210 | GJB1 | c.553_555del (p.Thr185del) | ClinVar dbSNP |
| X | g.71224259C>A | CA516821159 | GJB1 | c.552C>A (p.Pro184=) | gnomAD v4 |
| X | g.71224259C>G | CA516821161 | GJB1 | c.552C>G (p.Pro184=) | |
| X | g.71224259C>T | CA516821162 | GJB1 | c.552C>T (p.Pro184=) | gnomAD v4 |
| X | g.71224260A>C | CA413503138 | GJB1 | c.553A>C (p.Thr185Pro) | |
| X | g.71224260A>G | CA413503140 | GJB1 | c.553A>G (p.Thr185Ala) | |
| X | g.71224260A>T | CA413503142 | GJB1 | c.553A>T (p.Thr185Ser) | |
| X | g.71224261C>A | CA413503145 | GJB1 | c.554C>A (p.Thr185Asn) | |
| X | g.71224261C>G | CA413503148 | GJB1 | c.554C>G (p.Thr185Ser) | |
| X | g.71224261C>T | CA413503150 | GJB1 | c.554C>T (p.Thr185Ile) | ClinVar gnomAD v4 |
| X | g.71224262C>A | CA516821169 | GJB1 | c.555C>A (p.Thr185=) | gnomAD v4 COSMIC |
| X | g.71224262C= | CA2436388454 | GJB1 | c.555C= (p.Thr185=) | |
| X | g.71224262C>G | CA516821170 | GJB1 | c.555C>G (p.Thr185=) | |
| X | g.71224262C>T | CA516821171 | GJB1 | c.555C>T (p.Thr185=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224263G>A | CA341609 | GJB1 | c.556G>A (p.Glu186Lys) | ClinVar dbSNP |
| X | g.71224263G>C | CA413503153 | GJB1 | c.556G>C (p.Glu186Gln) | |
| X | g.71224263G= | CA2436388455 | GJB1 | c.556G= (p.Glu186=) | |
| X | g.71224263G>T | CA10577663 | GJB1 | c.556G>T (p.Glu186Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.71224263dup | CA915951211 | GJB1 | c.556dup (p.Glu186GlyfsTer?) | ClinVar dbSNP |
| X | g.71224264A= | CA2436388456 | GJB1 | c.557A= (p.Glu186=) | |
| X | g.71224264A>C | CA413503161 | GJB1 | c.557A>C (p.Glu186Ala) | |
| X | g.71224264A>G | CA413503159 | GJB1 | c.557A>G (p.Glu186Gly) | |
| X | g.71224264A>T | CA413503158 | GJB1 | c.557A>T (p.Glu186Val) | ClinVar dbSNP |
| X | g.71224265G>A | CA516821177 | GJB1 | c.558G>A (p.Glu186=) | |
| X | g.71224265G>C | CA413503162 | GJB1 | c.558G>C (p.Glu186Asp) | |
| X | g.71224265G>T | CA413503164 | GJB1 | c.558G>T (p.Glu186Asp) | gnomAD v4 |
| X | g.71224266A= | CA2436388457 | GJB1 | c.559A= (p.Lys187=) | |
| X | g.71224266A>C | CA413503166 | GJB1 | c.559A>C (p.Lys187Gln) | |
| X | g.71224266A>G | CA413503167 | GJB1 | c.559A>G (p.Lys187Glu) | ClinVar dbSNP |
| X | g.71224266A>T | CA413503169 | GJB1 | c.559A>T (p.Lys187Ter) | |
| X | g.71224269dup | CA2580101383 | GJB1 | c.562dup (p.Thr188AsnfsTer?) | ClinVar |
| X | g.71224267A>C | CA413503170 | GJB1 | c.560A>C (p.Lys187Thr) | |
| X | g.71224267A>G | CA413503171 | GJB1 | c.560A>G (p.Lys187Arg) | |
| X | g.71224267A>T | CA413503172 | GJB1 | c.560A>T (p.Lys187Ile) | |
| X | g.71224268A>C | CA413503173 | GJB1 | c.561A>C (p.Lys187Asn) | |
| X | g.71224268A>G | CA516821182 | GJB1 | c.561A>G (p.Lys187=) | |
| X | g.71224268A>T | CA413503174 | GJB1 | c.561A>T (p.Lys187Asn) | |
| X | g.71224268_71224276dup | CA2695234572 | GJB1 | c.561_569dup (p.Val189_Phe190insLeuThrVal) | |
| X | g.71224268_71224277delinsAACCGTCTTC | CA2436388458 | GJB1 | c.561_570delinsAACCGTCTTC (p.Lys187=) | |
| X | g.71224269A>C | CA413503178 | GJB1 | c.562A>C (p.Thr188Pro) | |
| X | g.71224269A>G | CA413503177 | GJB1 | c.562A>G (p.Thr188Ala) | |
| X | g.71224269A>T | CA413503176 | GJB1 | c.562A>T (p.Thr188Ser) | |
| X | g.71224279_71224287dup | CA341612 | GJB1 | c.572_580dup (p.Phe193_Met194insThrValPhe) | ClinVar dbSNP |
| X | g.71224279_71224287del | CA16616547 | GJB1 | c.572_580del (p.Thr191_Phe193del) | ClinVar dbSNP gnomAD v4 |
| X | g.71224270C>A | CA413503180 | GJB1 | c.563C>A (p.Thr188Asn) | |
| X | g.71224270C>G | CA413503182 | GJB1 | c.563C>G (p.Thr188Ser) | |
| X | g.71224270C>T | CA413503183 | GJB1 | c.563C>T (p.Thr188Ile) | |
| X | g.71224271C>A | CA516820920 | GJB1 | c.564C>A (p.Thr188=) | |
| X | g.71224271C= | CA2436388459 | GJB1 | c.564C= (p.Thr188=) | |
| X | g.71224271C>G | CA516820921 | GJB1 | c.564C>G (p.Thr188=) | ClinVar |
| X | g.71224271C>T | CA10445315 | GJB1 | c.564C>T (p.Thr188=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224272G>A | CA10445316 | GJB1 | c.565G>A (p.Val189Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224272G>C | CA413503188 | GJB1 | c.565G>C (p.Val189Leu) | |
| X | g.71224272G= | CA2436388460 | GJB1 | c.565G= (p.Val189=) | |
| X | g.71224272G>T | CA413503189 | GJB1 | c.565G>T (p.Val189Phe) | gnomAD v4 |
| X | g.71224273T>A | CA413503190 | GJB1 | c.566T>A (p.Val189Asp) | |
| X | g.71224273T>C | CA413503192 | GJB1 | c.566T>C (p.Val189Ala) | ClinVar |
| X | g.71224273T>G | CA16621493 | GJB1 | c.566T>G (p.Val189Gly) | ClinVar dbSNP |
| X | g.71224273T= | CA2436388461 | GJB1 | c.566T= (p.Val189=) | |
| X | g.71224274C>A | CA516820926 | GJB1 | c.567C>A (p.Val189=) | |
| X | g.71224274C>G | CA516820927 | GJB1 | c.567C>G (p.Val189=) | |
| X | g.71224274C>T | CA516820929 | GJB1 | c.567C>T (p.Val189=) | |
| X | g.71224275T>A | CA413503195 | GJB1 | c.568T>A (p.Phe190Ile) | |
| X | g.71224275T>C | CA413503196 | GJB1 | c.568T>C (p.Phe190Leu) | |
| X | g.71224275T>G | CA413503197 | GJB1 | c.568T>G (p.Phe190Val) | |
| X | g.71224275T= | CA2436388462 | GJB1 | c.568T= (p.Phe190=) | |
| X | g.71224276T>A | CA413503200 | GJB1 | c.569T>A (p.Phe190Tyr) | |
| X | g.71224276T>C | CA413503199 | GJB1 | c.569T>C (p.Phe190Ser) | |
| X | g.71224276T>G | CA413503198 | GJB1 | c.569T>G (p.Phe190Cys) | |
| X | g.71224276_71224278dup | CA891844222 | GJB1 | c.569_571dup (p.Phe190_Thr191insIle) | ClinVar dbSNP |
| X | g.71224277C>A | CA413503201 | GJB1 | c.570C>A (p.Phe190Leu) | |
| X | g.71224277C= | CA2436388463 | GJB1 | c.570C= (p.Phe190=) | |
| X | g.71224277C>G | CA413503202 | GJB1 | c.570C>G (p.Phe190Leu) | |
| X | g.71224277C>T | CA516820934 | GJB1 | c.570C>T (p.Phe190=) | |
| X | g.71224278A= | CA2436388464 | GJB1 | c.571A= (p.Thr191=) | |
| X | g.71224278A>C | CA413503203 | GJB1 | c.571A>C (p.Thr191Pro) | |
| X | g.71224278A>G | CA413503204 | GJB1 | c.571A>G (p.Thr191Ala) | ClinVar dbSNP |
| X | g.71224278A>T | CA413503205 | GJB1 | c.571A>T (p.Thr191Ser) | ClinVar dbSNP COSMIC |
| X | g.71224278dup | CA915951212 | GJB1 | c.571dup (p.Thr191AsnfsTer?) | ClinVar dbSNP |
| X | g.71224279C>A | CA413503206 | GJB1 | c.572C>A (p.Thr191Asn) | ClinVar |
| X | g.71224279C>G | CA413503207 | GJB1 | c.572C>G (p.Thr191Ser) | |
| X | g.71224279C>T | CA413503208 | GJB1 | c.572C>T (p.Thr191Ile) | gnomAD v4 |
| X | g.71224280C>A | CA516820935 | GJB1 | c.573C>A (p.Thr191=) | gnomAD v4 |
| X | g.71224280C= | CA2436388465 | GJB1 | c.573C= (p.Thr191=) | |
| X | g.71224280C>G | CA10445317 | GJB1 | c.573C>G (p.Thr191=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280C>T | CA10445318 | GJB1 | c.573C>T (p.Thr191=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224280_71224288del | CA2695234573 | GJB1 | c.573_581del (p.Val192_Met194del) | |
| X | g.71224280_71224281insTCA | CA915951213 | GJB1 | c.573_574insTCA (p.Thr191_Val192insSer) | ClinVar dbSNP |
| X | g.71224281G>A | CA10445319 | GJB1 | c.574G>A (p.Val192Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224281G>C | CA413503210 | GJB1 | c.574G>C (p.Val192Leu) | |
| X | g.71224281G= | CA2436388466 | GJB1 | c.574G= (p.Val192=) | |
| X | g.71224281G>T | CA413503209 | GJB1 | c.574G>T (p.Val192Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224282T>A | CA413503211 | GJB1 | c.575T>A (p.Val192Asp) | |
| X | g.71224282T>C | CA413503213 | GJB1 | c.575T>C (p.Val192Ala) | |
| X | g.71224282T>G | CA413503212 | GJB1 | c.575T>G (p.Val192Gly) | |
| X | g.71224282_71224283delinsTC | CA2436388467 | GJB1 | c.575_576delinsTC (p.Val192=) | |
| X | g.71224283del | CA915951214 | GJB1 | c.576del (p.Phe193SerfsTer3) | ClinVar dbSNP |
| X | g.71224283C>A | CA516820937 | GJB1 | c.576C>A (p.Val192=) | |
| X | g.71224283C>G | CA516820938 | GJB1 | c.576C>G (p.Val192=) | |
| X | g.71224283C>T | CA516820939 | GJB1 | c.576C>T (p.Val192=) | |
| X | g.71224284T>A | CA413503214 | GJB1 | c.577T>A (p.Phe193Ile) | |
| X | g.71224284T>C | CA413503215 | GJB1 | c.577T>C (p.Phe193Leu) | ClinVar |
| X | g.71224284T>G | CA413503216 | GJB1 | c.577T>G (p.Phe193Val) | |
| X | g.71224285T>A | CA413503217 | GJB1 | c.578T>A (p.Phe193Tyr) | |
| X | g.71224285T>C | CA413503218 | GJB1 | c.578T>C (p.Phe193Ser) | |
| X | g.71224285T>G | CA413503219 | GJB1 | c.578T>G (p.Phe193Cys) | ClinVar dbSNP |
| X | g.71224285T= | CA2436388468 | GJB1 | c.578T= (p.Phe193=) | |
| X | g.71224286C>A | CA413503220 | GJB1 | c.579C>A (p.Phe193Leu) | |
| X | g.71224286C= | CA2436388469 | GJB1 | c.579C= (p.Phe193=) | |
| X | g.71224286C>G | CA413503221 | GJB1 | c.579C>G (p.Phe193Leu) | ClinVar dbSNP COSMIC |
| X | g.71224286C>T | CA516820940 | GJB1 | c.579C>T (p.Phe193=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224287A= | CA2436388470 | GJB1 | c.580A= (p.Met194=) | |
| X | g.71224287A>C | CA413503222 | GJB1 | c.580A>C (p.Met194Leu) | ClinVar |
| X | g.71224287A>G | CA270643 | GJB1 | c.580A>G (p.Met194Val) | ClinVar dbSNP |
| X | g.71224287A>T | CA413503223 | GJB1 | c.580A>T (p.Met194Leu) | |
| X | g.71224288T>A | CA413503226 | GJB1 | c.581T>A (p.Met194Lys) | |
| X | g.71224288T>C | CA413503225 | GJB1 | c.581T>C (p.Met194Thr) | |
| X | g.71224288T>G | CA413503224 | GJB1 | c.581T>G (p.Met194Arg) | |
| X | g.71224289G>A | CA413503227 | GJB1 | c.582G>A (p.Met194Ile) | |
| X | g.71224289G>C | CA413503228 | GJB1 | c.582G>C (p.Met194Ile) | |
| X | g.71224289G>T | CA413503229 | GJB1 | c.582G>T (p.Met194Ile) | gnomAD v4 |
| X | g.71224290C>A | CA413503230 | GJB1 | c.583C>A (p.Leu195Ile) | |
| X | g.71224290C>G | CA413503231 | GJB1 | c.583C>G (p.Leu195Val) | |
| X | g.71224290C>T | CA516820945 | GJB1 | c.583C>T (p.Leu195=) | |
| X | g.71224291T>A | CA413503232 | GJB1 | c.584T>A (p.Leu195Gln) | ClinVar dbSNP |
| X | g.71224291T>C | CA413503233 | GJB1 | c.584T>C (p.Leu195Pro) | ClinVar dbSNP |
| X | g.71224291T>G | CA413503234 | GJB1 | c.584T>G (p.Leu195Arg) | |
| X | g.71224291T= | CA2436388471 | GJB1 | c.584T= (p.Leu195=) | |
| X | g.71224292A= | CA2436388472 | GJB1 | c.585A= (p.Leu195=) | |
| X | g.71224292A>C | CA516820949 | GJB1 | c.585A>C (p.Leu195=) | dbSNP |
| X | g.71224292A>G | CA516820947 | GJB1 | c.585A>G (p.Leu195=) | |
| X | g.71224292A>T | CA516820948 | GJB1 | c.585A>T (p.Leu195=) | |
| X | g.71224293G>A | CA413503235 | GJB1 | c.586G>A (p.Ala196Thr) | |
| X | g.71224293G>C | CA413503236 | GJB1 | c.586G>C (p.Ala196Pro) | |
| X | g.71224293G>T | CA413503237 | GJB1 | c.586G>T (p.Ala196Ser) | |
| X | g.71224294C>A | CA413503240 | GJB1 | c.587C>A (p.Ala196Asp) | gnomAD v4 |
| X | g.71224294C>G | CA413503239 | GJB1 | c.587C>G (p.Ala196Gly) | |
| X | g.71224294C>T | CA413503238 | GJB1 | c.587C>T (p.Ala196Val) | |
| X | g.71224295T>A | CA516820952 | GJB1 | c.588T>A (p.Ala196=) | dbSNP |
| X | g.71224295T>C | CA330997808 | GJB1 | c.588T>C (p.Ala196=) | dbSNP |
| X | g.71224295T>G | CA516820951 | GJB1 | c.588T>G (p.Ala196=) | |
| X | g.71224295T= | CA2436388473 | GJB1 | c.588T= (p.Ala196=) | |
| X | g.71224296G>A | CA413503241 | GJB1 | c.589G>A (p.Ala197Thr) | |
| X | g.71224296G>C | CA413503242 | GJB1 | c.589G>C (p.Ala197Pro) | dbSNP |
| X | g.71224296G>T | CA413503243 | GJB1 | c.589G>T (p.Ala197Ser) | |
| X | g.71224297C>A | CA413503244 | GJB1 | c.590C>A (p.Ala197Asp) | |
| X | g.71224297C= | CA2436388474 | GJB1 | c.590C= (p.Ala197=) | |
| X | g.71224297C>G | CA413503245 | GJB1 | c.590C>G (p.Ala197Gly) | |
| X | g.71224297C>T | CA413503246 | GJB1 | c.590C>T (p.Ala197Val) | ClinVar dbSNP |
| X | g.71224298C>A | CA516820953 | GJB1 | c.591C>A (p.Ala197=) | |
| X | g.71224298C= | CA2436388475 | GJB1 | c.591C= (p.Ala197=) | |
| X | g.71224298C>G | CA516820955 | GJB1 | c.591C>G (p.Ala197=) | |
| X | g.71224298C>T | CA516820954 | GJB1 | c.591C>T (p.Ala197=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224299T>A | CA413503247 | GJB1 | c.592T>A (p.Ser198Thr) | |
| X | g.71224299T>C | CA413503248 | GJB1 | c.592T>C (p.Ser198Pro) | ClinVar dbSNP |
| X | g.71224299T>G | CA413503249 | GJB1 | c.592T>G (p.Ser198Ala) | ClinVar dbSNP |
| X | g.71224299T= | CA2436388476 | GJB1 | c.592T= (p.Ser198=) | |
| X | g.71224300C>A | CA413503250 | GJB1 | c.593C>A (p.Ser198Tyr) | gnomAD v4 |
| X | g.71224300C= | CA2436388477 | GJB1 | c.593C= (p.Ser198=) | |
| X | g.71224300C>G | CA413503251 | GJB1 | c.593C>G (p.Ser198Cys) | ClinVar |
| X | g.71224300C>T | CA413503252 | GJB1 | c.593C>T (p.Ser198Phe) | ClinVar dbSNP |
| X | g.71224301T>A | CA516820958 | GJB1 | c.594T>A (p.Ser198=) | ClinVar dbSNP |
| X | g.71224301T>C | CA330997810 | GJB1 | c.594T>C (p.Ser198=) | dbSNP |
| X | g.71224301T>G | CA516820960 | GJB1 | c.594T>G (p.Ser198=) | |
| X | g.71224301T= | CA2436388478 | GJB1 | c.594T= (p.Ser198=) | |
| X | g.71224302G>A | CA10445320 | GJB1 | c.595G>A (p.Gly199Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224302G>C | CA413503253 | GJB1 | c.595G>C (p.Gly199Arg) | ClinVar dbSNP |
| X | g.71224302G= | CA2436388479 | GJB1 | c.595G= (p.Gly199=) | |
| X | g.71224302G>T | CA413503254 | GJB1 | c.595G>T (p.Gly199Cys) | |
| X | g.71224303G>A | CA413503255 | GJB1 | c.596G>A (p.Gly199Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.71224303G>C | CA413503256 | GJB1 | c.596G>C (p.Gly199Ala) | |
| X | g.71224303G>T | CA413503257 | GJB1 | c.596G>T (p.Gly199Val) | ClinVar gnomAD v4 |
| X | g.71224304C>A | CA516820965 | GJB1 | c.597C>A (p.Gly199=) | |
| X | g.71224304C>G | CA516820966 | GJB1 | c.597C>G (p.Gly199=) | |
| X | g.71224304C>T | CA516820968 | GJB1 | c.597C>T (p.Gly199=) | gnomAD v4 |
| X | g.71224305A>C | CA413503258 | GJB1 | c.598A>C (p.Ile200Leu) | |
| X | g.71224305A>G | CA413503259 | GJB1 | c.598A>G (p.Ile200Val) | |
| X | g.71224305A>T | CA413503260 | GJB1 | c.598A>T (p.Ile200Phe) | |
| X | g.71224306T>A | CA413503261 | GJB1 | c.599T>A (p.Ile200Asn) | |
| X | g.71224306T>C | CA413503262 | GJB1 | c.599T>C (p.Ile200Thr) | |
| X | g.71224306T>G | CA413503263 | GJB1 | c.599T>G (p.Ile200Ser) | |
| X | g.71224307C>A | CA516820970 | GJB1 | c.600C>A (p.Ile200=) | |
| X | g.71224307C>G | CA413503264 | GJB1 | c.600C>G (p.Ile200Met) | |
| X | g.71224307C>T | CA516820972 | GJB1 | c.600C>T (p.Ile200=) | |
| X | g.71224308T>A | CA413503266 | GJB1 | c.601T>A (p.Cys201Ser) | |
| X | g.71224308T>C | CA413503267 | GJB1 | c.601T>C (p.Cys201Arg) | ClinVar dbSNP |
| X | g.71224308T>G | CA413503265 | GJB1 | c.601T>G (p.Cys201Gly) | ClinVar dbSNP |
| X | g.71224308T= | CA2436388481 | GJB1 | c.601T= (p.Cys201=) | |
| X | g.71224308_71224309delinsTG | CA2436388480 | GJB1 | c.601_602delinsTG (p.Cys201=) | |
| X | g.71224309del | CA891844223 | GJB1 | c.602del (p.Cys201SerfsTer?) | ClinVar dbSNP |
| X | g.71224309G>A | CA413503269 | GJB1 | c.602G>A (p.Cys201Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71224309G>C | CA413503268 | GJB1 | c.602G>C (p.Cys201Ser) | ClinVar dbSNP |
| X | g.71224309G= | CA2436388482 | GJB1 | c.602G= (p.Cys201=) | |
| X | g.71224309G>T | CA413503270 | GJB1 | c.602G>T (p.Cys201Phe) | ClinVar dbSNP |
| X | g.71224310C>A | CA413503271 | GJB1 | c.603C>A (p.Cys201Ter) | |
| X | g.71224310C>G | CA413503272 | GJB1 | c.603C>G (p.Cys201Trp) | |
| X | g.71224310C>T | CA516820976 | GJB1 | c.603C>T (p.Cys201=) | |
| X | g.71224311A>C | CA413503273 | GJB1 | c.604A>C (p.Ile202Leu) | |
| X | g.71224311A>G | CA413503274 | GJB1 | c.604A>G (p.Ile202Val) | |
| X | g.71224311A>T | CA413503275 | GJB1 | c.604A>T (p.Ile202Phe) | |
| X | g.71224312T>A | CA413503276 | GJB1 | c.605T>A (p.Ile202Asn) | ClinVar dbSNP |
| X | g.71224312T>C | CA413503277 | GJB1 | c.605T>C (p.Ile202Thr) | |
| X | g.71224312T>G | CA413503278 | GJB1 | c.605T>G (p.Ile202Ser) | |
| X | g.71224312T= | CA2436388484 | GJB1 | c.605T= (p.Ile202=) | |
| X | g.71224312_71224313delinsTC | CA2436388483 | GJB1 | c.605_606delinsTC (p.Ile202=) | |
| X | g.71224313del | CA915951215 | GJB1 | c.606del (p.Ile203SerfsTer?) | ClinVar dbSNP |
| X | g.71224313C>A | CA516820981 | GJB1 | c.606C>A (p.Ile202=) | |
| X | g.71224313C= | CA2436388485 | GJB1 | c.606C= (p.Ile202=) | |
| X | g.71224313C>G | CA413503279 | GJB1 | c.606C>G (p.Ile202Met) | |
| X | g.71224313C>T | CA516820982 | GJB1 | c.606C>T (p.Ile202=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224314A>C | CA413503280 | GJB1 | c.607A>C (p.Ile203Leu) | |
| X | g.71224314A>G | CA413503281 | GJB1 | c.607A>G (p.Ile203Val) | |
| X | g.71224314A>T | CA413503282 | GJB1 | c.607A>T (p.Ile203Phe) | |
| X | g.71224315T>A | CA413503285 | GJB1 | c.608T>A (p.Ile203Asn) | ClinVar dbSNP |
| X | g.71224315T>C | CA413503284 | GJB1 | c.608T>C (p.Ile203Thr) | ClinVar dbSNP |
| X | g.71224315T>G | CA413503283 | GJB1 | c.608T>G (p.Ile203Ser) | |
| X | g.71224315T= | CA2436388486 | GJB1 | c.608T= (p.Ile203=) | |
| X | g.71224315_71224316dup | CA2695234574 | GJB1 | c.608_609dup (p.Leu204SerfsTer?) | |
| X | g.71224316C>A | CA516820987 | GJB1 | c.609C>A (p.Ile203=) | |
| X | g.71224316C= | CA2436388487 | GJB1 | c.609C= (p.Ile203=) | |
| X | g.71224316C>G | CA413503286 | GJB1 | c.609C>G (p.Ile203Met) | COSMIC |
| X | g.71224316C>T | CA516820989 | GJB1 | c.609C>T (p.Ile203=) | dbSNP |
| X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile) | ClinVar dbSNP |
| X | g.71224317C= | CA2436388488 | GJB1 | c.610C= (p.Leu204=) | |
| X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val) | ClinVar dbSNP |
| X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe) | ClinVar dbSNP |
| X | g.71224318T>A | CA413503289 | GJB1 | c.611T>A (p.Leu204His) | |
| X | g.71224318T>C | CA413503290 | GJB1 | c.611T>C (p.Leu204Pro) | |
| X | g.71224318T>G | CA413503291 | GJB1 | c.611T>G (p.Leu204Arg) | |
| X | g.71224319C>A | CA516820994 | GJB1 | c.612C>A (p.Leu204=) | |
| X | g.71224319C>G | CA516820993 | GJB1 | c.612C>G (p.Leu204=) | |
| X | g.71224319C>T | CA516820992 | GJB1 | c.612C>T (p.Leu204=) |