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.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223841dup | CA2697553165 | GJB1 | c.134dup (p.Asp46Ter) | ClinVar |
| X | g.71223841del | CA2695234560 | GJB1 | c.134del (p.Gly45ValfsTer?) | |
| X | g.71223839G>A | CA413501057 | GJB1 | c.132G>A (p.Trp44Ter) | ClinVar dbSNP COSMIC |
| X | g.71223839G>C | CA10584635 | GJB1 | c.132G>C (p.Trp44Cys) | ClinVar dbSNP |
| X | g.71223839G= | CA2436388173 | GJB1 | c.132G= (p.Trp44=) | |
| X | g.71223839G>T | CA413501055 | GJB1 | c.132G>T (p.Trp44Cys) | COSMIC |
| X | g.71223840G>A | CA413501060 | GJB1 | c.133G>A (p.Gly45Ser) | gnomAD v4 |
| X | g.71223840G>C | CA413501062 | GJB1 | c.133G>C (p.Gly45Arg) | ClinVar |
| X | g.71223840G>T | CA413501064 | GJB1 | c.133G>T (p.Gly45Cys) | |
| X | g.71223841G>A | CA413501066 | GJB1 | c.134G>A (p.Gly45Asp) | gnomAD v4 |
| X | g.71223841G>C | CA413501067 | GJB1 | c.134G>C (p.Gly45Ala) | |
| X | g.71223841G>T | CA413501069 | GJB1 | c.134G>T (p.Gly45Val) | |
| X | g.71223842T>A | CA516821195 | GJB1 | c.135T>A (p.Gly45=) | |
| X | g.71223842T>C | CA516821197 | GJB1 | c.135T>C (p.Gly45=) | dbSNP gnomAD v3 |
| X | g.71223842T>G | CA516821199 | GJB1 | c.135T>G (p.Gly45=) | ClinVar dbSNP |
| X | g.71223842T= | CA2436388174 | GJB1 | c.135T= (p.Gly45=) | |
| X | g.71223843G>A | CA413501073 | GJB1 | c.136G>A (p.Asp46Asn) | ClinVar |
| X | g.71223843G>C | CA413501075 | GJB1 | c.136G>C (p.Asp46His) | |
| X | g.71223843G>T | CA413501077 | GJB1 | c.136G>T (p.Asp46Tyr) | |
| X | g.71223844A= | CA2436388175 | GJB1 | c.137A= (p.Asp46=) | |
| X | g.71223844A>C | CA413501084 | GJB1 | c.137A>C (p.Asp46Ala) | |
| X | g.71223844A>G | CA413501083 | GJB1 | c.137A>G (p.Asp46Gly) | ClinVar dbSNP |
| X | g.71223844A>T | CA413501081 | GJB1 | c.137A>T (p.Asp46Val) | ClinVar dbSNP |
| X | g.71223845T>A | CA413501085 | GJB1 | c.138T>A (p.Asp46Glu) | |
| X | g.71223845T>C | CA516821202 | GJB1 | c.138T>C (p.Asp46=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223845T>G | CA413501086 | GJB1 | c.138T>G (p.Asp46Glu) | ClinVar dbSNP gnomAD v4 |
| X | g.71223845T= | CA2436388176 | GJB1 | c.138T= (p.Asp46=) | |
| X | g.71223846G>A | CA413501088 | GJB1 | c.139G>A (p.Glu47Lys) | ClinVar dbSNP |
| X | g.71223846G>C | CA413501092 | GJB1 | c.139G>C (p.Glu47Gln) | |
| X | g.71223846G= | CA2436388177 | GJB1 | c.139G= (p.Glu47=) | |
| X | g.71223846G>T | CA413501093 | GJB1 | c.139G>T (p.Glu47Ter) | |
| X | g.71223847A= | CA2436388178 | GJB1 | c.140A= (p.Glu47=) | |
| X | g.71223847A>C | CA413501095 | GJB1 | c.140A>C (p.Glu47Ala) | |
| X | g.71223847A>G | CA413501096 | GJB1 | c.140A>G (p.Glu47Gly) | ClinVar dbSNP |
| X | g.71223847A>T | CA413501098 | GJB1 | c.140A>T (p.Glu47Val) | ClinVar dbSNP |
| X | g.71223848_71223850dup | CA915951181 | GJB1 | c.141_143dup (p.Lys48_Ser49insLys) | ClinVar dbSNP |
| X | g.71223848G>A | CA516821206 | GJB1 | c.141G>A (p.Glu47=) | gnomAD v4 |
| X | g.71223848G>C | CA413501100 | GJB1 | c.141G>C (p.Glu47Asp) | |
| X | g.71223848G>T | CA413501103 | GJB1 | c.141G>T (p.Glu47Asp) | |
| X | g.71223849A>C | CA413501105 | GJB1 | c.142A>C (p.Lys48Gln) | |
| X | g.71223849A>G | CA413501106 | GJB1 | c.142A>G (p.Lys48Glu) | |
| X | g.71223849A>T | CA413501109 | GJB1 | c.142A>T (p.Lys48Ter) | |
| X | g.71223850A>C | CA413501115 | GJB1 | c.143A>C (p.Lys48Thr) | |
| X | g.71223850A>G | CA413501117 | GJB1 | c.143A>G (p.Lys48Arg) | |
| X | g.71223850A>T | CA413501112 | GJB1 | c.143A>T (p.Lys48Ile) | |
| X | g.71223851A= | CA2436388179 | GJB1 | c.144A= (p.Lys48=) | |
| X | g.71223851A>C | CA413501119 | GJB1 | c.144A>C (p.Lys48Asn) | |
| X | g.71223851A>G | CA516821209 | GJB1 | c.144A>G (p.Lys48=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223851A>T | CA413501122 | GJB1 | c.144A>T (p.Lys48Asn) | |
| X | g.71223852T>A | CA413501125 | GJB1 | c.145T>A (p.Ser49Thr) | |
| X | g.71223852T>C | CA341595 | GJB1 | c.145T>C (p.Ser49Pro) | ClinVar dbSNP |
| X | g.71223852T>G | CA413501126 | GJB1 | c.145T>G (p.Ser49Ala) | |
| X | g.71223852T= | CA2436388180 | GJB1 | c.145T= (p.Ser49=) | |
| X | g.71223853C>A | CA413501127 | GJB1 | c.146C>A (p.Ser49Tyr) | ClinVar dbSNP |
| X | g.71223853C= | CA2436388181 | GJB1 | c.146C= (p.Ser49=) | |
| X | g.71223853C>G | CA413501128 | GJB1 | c.146C>G (p.Ser49Cys) | |
| X | g.71223853C>T | CA413501130 | GJB1 | c.146C>T (p.Ser49Phe) | |
| X | g.71223854T>A | CA516821211 | GJB1 | c.147T>A (p.Ser49=) | |
| X | g.71223854T>C | CA516821212 | GJB1 | c.147T>C (p.Ser49=) | ClinVar dbSNP COSMIC |
| X | g.71223854T>G | CA516821213 | GJB1 | c.147T>G (p.Ser49=) | |
| X | g.71223854T= | CA2436388182 | GJB1 | c.147T= (p.Ser49=) | |
| X | g.71223855T>A | CA413501134 | GJB1 | c.148T>A (p.Ser50Thr) | |
| X | g.71223855T>C | CA413501135 | GJB1 | c.148T>C (p.Ser50Pro) | ClinVar dbSNP |
| X | g.71223855T>G | CA330997669 | GJB1 | c.148T>G (p.Ser50Ala) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223855T= | CA2436388183 | GJB1 | c.148T= (p.Ser50=) | |
| X | g.71223856C>A | CA413501140 | GJB1 | c.149C>A (p.Ser50Tyr) | |
| X | g.71223856C= | CA2436388184 | GJB1 | c.149C= (p.Ser50=) | |
| X | g.71223856C>G | CA413501143 | GJB1 | c.149C>G (p.Ser50Cys) | ClinVar dbSNP |
| X | g.71223856C>T | CA413501149 | GJB1 | c.149C>T (p.Ser50Phe) | |
| X | g.71223857C>A | CA516821217 | GJB1 | c.150C>A (p.Ser50=) | |
| X | g.71223857C>G | CA516821216 | GJB1 | c.150C>G (p.Ser50=) | |
| X | g.71223857C>T | CA516821215 | GJB1 | c.150C>T (p.Ser50=) | |
| X | g.71223858T>A | CA413501158 | GJB1 | c.151T>A (p.Phe51Ile) | |
| X | g.71223858T>C | CA10577662 | GJB1 | c.151T>C (p.Phe51Leu) | ClinVar dbSNP |
| X | g.71223858T>G | CA413501152 | GJB1 | c.151T>G (p.Phe51Val) | |
| X | g.71223858T= | CA2436388185 | GJB1 | c.151T= (p.Phe51=) | |
| X | g.71223859T>A | CA413501161 | GJB1 | c.152T>A (p.Phe51Tyr) | |
| X | g.71223859T>C | CA413501163 | GJB1 | c.152T>C (p.Phe51Ser) | ClinVar dbSNP |
| X | g.71223859T>G | CA413501164 | GJB1 | c.152T>G (p.Phe51Cys) | |
| X | g.71223859T= | CA2436388186 | GJB1 | c.152T= (p.Phe51=) | |
| X | g.71223860C>A | CA413501166 | GJB1 | c.153C>A (p.Phe51Leu) | ClinVar dbSNP |
| X | g.71223860C>G | CA413501167 | GJB1 | c.153C>G (p.Phe51Leu) | |
| X | g.71223860C>T | CA516821219 | GJB1 | c.153C>T (p.Phe51=) | |
| X | g.71223861A= | CA2436388187 | GJB1 | c.154A= (p.Ile52=) | |
| X | g.71223861A>C | CA413501168 | GJB1 | c.154A>C (p.Ile52Leu) | |
| X | g.71223861A>G | CA413501169 | GJB1 | c.154A>G (p.Ile52Val) | |
| X | g.71223861A>T | CA330997673 | GJB1 | c.154A>T (p.Ile52Phe) | dbSNP |
| X | g.71223861_71223862delinsAT | CA2436388188 | GJB1 | c.154_155delinsAT (p.Ile52=) | |
| X | g.71223862del | CA915951182 | GJB1 | c.155del (p.Ile52ThrfsTer?) | ClinVar dbSNP |
| X | g.71223862T>A | CA413501171 | GJB1 | c.155T>A (p.Ile52Asn) | |
| X | g.71223862T>C | CA413501174 | GJB1 | c.155T>C (p.Ile52Thr) | |
| X | g.71223862T>G | CA413501178 | GJB1 | c.155T>G (p.Ile52Ser) | |
| X | g.71223862T= | CA2436388189 | GJB1 | c.155T= (p.Ile52=) | |
| X | g.71223863C>A | CA516821221 | GJB1 | c.156C>A (p.Ile52=) | |
| X | g.71223863C= | CA2436388190 | GJB1 | c.156C= (p.Ile52=) | |
| X | g.71223863C>G | CA413501180 | GJB1 | c.156C>G (p.Ile52Met) | |
| X | g.71223863C>T | CA516821222 | GJB1 | c.156C>T (p.Ile52=) | dbSNP gnomAD v4 |
| X | g.71223871_71223891dup | CA658659008 | GJB1 | c.164_184dup (p.Asn61_Ser62insThrLeuGlnProGlyCysAsn) | ClinVar dbSNP |
| X | g.71223864del | CA2580101352 | GJB1 | c.157del (p.Cys53AlafsTer?) | ClinVar |
| X | g.71223864T>A | CA413501193 | GJB1 | c.157T>A (p.Cys53Ser) | ClinVar dbSNP |
| X | g.71223864T>C | CA413501184 | GJB1 | c.157T>C (p.Cys53Arg) | |
| X | g.71223864T>G | CA413501189 | GJB1 | c.157T>G (p.Cys53Gly) | |
| X | g.71223864T= | CA2436388191 | GJB1 | c.157T= (p.Cys53=) | |
| X | g.71223865G>A | CA413501194 | GJB1 | c.158G>A (p.Cys53Tyr) | ClinVar dbSNP |
| X | g.71223865G>C | CA413501195 | GJB1 | c.158G>C (p.Cys53Ser) | ClinVar dbSNP |
| X | g.71223865G= | CA2436388192 | GJB1 | c.158G= (p.Cys53=) | |
| X | g.71223865G>T | CA413501196 | GJB1 | c.158G>T (p.Cys53Phe) | ClinVar |
| X | g.71223866C>A | CA413501197 | GJB1 | c.159C>A (p.Cys53Ter) | |
| X | g.71223866C>G | CA413501198 | GJB1 | c.159C>G (p.Cys53Trp) | |
| X | g.71223866C>T | CA516821224 | GJB1 | c.159C>T (p.Cys53=) | |
| X | g.71223867A= | CA2436388193 | GJB1 | c.160A= (p.Asn54=) | |
| X | g.71223867A>C | CA413501199 | GJB1 | c.160A>C (p.Asn54His) | ClinVar dbSNP |
| X | g.71223867A>G | CA413501201 | GJB1 | c.160A>G (p.Asn54Asp) | |
| X | g.71223867A>T | CA413501202 | GJB1 | c.160A>T (p.Asn54Tyr) | |
| X | g.71223868A>C | CA413501206 | GJB1 | c.161A>C (p.Asn54Thr) | |
| X | g.71223868A>G | CA413501207 | GJB1 | c.161A>G (p.Asn54Ser) | |
| X | g.71223868A>T | CA413501208 | GJB1 | c.161A>T (p.Asn54Ile) | |
| X | g.71223869C>A | CA413501209 | GJB1 | c.162C>A (p.Asn54Lys) | |
| X | g.71223869C>G | CA413501211 | GJB1 | c.162C>G (p.Asn54Lys) | |
| X | g.71223869C>T | CA516821227 | GJB1 | c.162C>T (p.Asn54=) | ClinVar dbSNP |
| X | g.71223870A= | CA2436388194 | GJB1 | c.163A= (p.Thr55=) | |
| X | g.71223870A>C | CA413501213 | GJB1 | c.163A>C (p.Thr55Pro) | ClinVar dbSNP |
| X | g.71223870A>G | CA339416 | GJB1 | c.163A>G (p.Thr55Ala) | ClinVar dbSNP |
| X | g.71223870A>T | CA413501215 | GJB1 | c.163A>T (p.Thr55Ser) | |
| X | g.71223871C>A | CA413501216 | GJB1 | c.164C>A (p.Thr55Lys) | |
| X | g.71223871C= | CA2436388195 | GJB1 | c.164C= (p.Thr55=) | |
| X | g.71223871C>G | CA413501219 | GJB1 | c.164C>G (p.Thr55Arg) | ClinVar dbSNP |
| X | g.71223871C>T | CA340973 | GJB1 | c.164C>T (p.Thr55Ile) | ClinVar dbSNP |
| X | g.71223872A= | CA2436388196 | GJB1 | c.165A= (p.Thr55=) | |
| X | g.71223872A>C | CA516821229 | GJB1 | c.165A>C (p.Thr55=) | |
| X | g.71223872A>G | CA516821230 | GJB1 | c.165A>G (p.Thr55=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223872A>T | CA516821231 | GJB1 | c.165A>T (p.Thr55=) | |
| X | g.71223872_71223873insGAT | CA2573159494 | GJB1 | c.165_166insGAT (p.Thr55_Leu56insAsp) | ClinVar dbSNP |
| X | g.71223873C>A | CA413501227 | GJB1 | c.166C>A (p.Leu56Ile) | |
| X | g.71223873C= | CA2436388197 | GJB1 | c.166C= (p.Leu56=) | |
| X | g.71223873C>G | CA413501230 | GJB1 | c.166C>G (p.Leu56Val) | ClinVar dbSNP |
| X | g.71223873C>T | CA413501232 | GJB1 | c.166C>T (p.Leu56Phe) | ClinVar dbSNP |
| X | g.71223874T>A | CA413501233 | GJB1 | c.167T>A (p.Leu56His) | |
| X | g.71223874T>C | CA413501237 | GJB1 | c.167T>C (p.Leu56Pro) | |
| X | g.71223874T>G | CA413501238 | GJB1 | c.167T>G (p.Leu56Arg) | |
| X | g.71223875C>A | CA516821234 | GJB1 | c.168C>A (p.Leu56=) | |
| X | g.71223875C>G | CA516821235 | GJB1 | c.168C>G (p.Leu56=) | |
| X | g.71223875C>T | CA516821236 | GJB1 | c.168C>T (p.Leu56=) | |
| X | g.71223876C>A | CA413501242 | GJB1 | c.169C>A (p.Gln57Lys) | |
| X | g.71223876C>G | CA413501244 | GJB1 | c.169C>G (p.Gln57Glu) | |
| X | g.71223876C>T | CA413501240 | GJB1 | c.169C>T (p.Gln57Ter) | |
| X | g.71223877A>C | CA413501248 | GJB1 | c.170A>C (p.Gln57Pro) | |
| X | g.71223877A>G | CA413501246 | GJB1 | c.170A>G (p.Gln57Arg) | |
| X | g.71223877A>T | CA413501251 | GJB1 | c.170A>T (p.Gln57Leu) | dbSNP |
| X | g.71223878G>A | CA516821242 | GJB1 | c.171G>A (p.Gln57=) | ClinVar dbSNP |
| X | g.71223878G>C | CA413501254 | GJB1 | c.171G>C (p.Gln57His) | ClinVar dbSNP |
| X | g.71223878G= | CA2436388198 | GJB1 | c.171G= (p.Gln57=) | |
| X | g.71223878G>T | CA413501256 | GJB1 | c.171G>T (p.Gln57His) | |
| X | g.71223879C>A | CA413501259 | GJB1 | c.172C>A (p.Pro58Thr) | |
| X | g.71223879C= | CA2436388199 | GJB1 | c.172C= (p.Pro58=) | |
| X | g.71223879C>G | CA413501262 | GJB1 | c.172C>G (p.Pro58Ala) | |
| X | g.71223879C>T | CA267507 | GJB1 | c.172C>T (p.Pro58Ser) | ClinVar dbSNP |
| X | g.71223880C>A | CA413501272 | GJB1 | c.173C>A (p.Pro58His) | |
| X | g.71223880C= | CA2436388200 | GJB1 | c.173C= (p.Pro58=) | |
| X | g.71223880C>G | CA413501270 | GJB1 | c.173C>G (p.Pro58Arg) | ClinVar dbSNP |
| X | g.71223880C>T | CA413501266 | GJB1 | c.173C>T (p.Pro58Leu) | gnomAD v4 |
| X | g.71223881T>A | CA516821247 | GJB1 | c.174T>A (p.Pro58=) | |
| X | g.71223881T>C | CA516821246 | GJB1 | c.174T>C (p.Pro58=) | |
| X | g.71223881T>G | CA516821245 | GJB1 | c.174T>G (p.Pro58=) | |
| X | g.71223882G>A | CA413501276 | GJB1 | c.175G>A (p.Gly59Ser) | |
| X | g.71223882G>C | CA413501278 | GJB1 | c.175G>C (p.Gly59Arg) | ClinVar dbSNP |
| X | g.71223882G= | CA2436388201 | GJB1 | c.175G= (p.Gly59=) | |
| X | g.71223882G>T | CA413501280 | GJB1 | c.175G>T (p.Gly59Cys) | ClinVar dbSNP |
| X | g.71223883G>A | CA413501284 | GJB1 | c.176G>A (p.Gly59Asp) | ClinVar |
| X | g.71223883G>C | CA413501287 | GJB1 | c.176G>C (p.Gly59Ala) | |
| X | g.71223883G>T | CA413501289 | GJB1 | c.176G>T (p.Gly59Val) | |
| X | g.71223884C>A | CA516821249 | GJB1 | c.177C>A (p.Gly59=) | |
| X | g.71223884C>G | CA516821251 | GJB1 | c.177C>G (p.Gly59=) | |
| X | g.71223884C>T | CA516821250 | GJB1 | c.177C>T (p.Gly59=) | |
| X | g.71223885T>A | CA413501292 | GJB1 | c.178T>A (p.Cys60Ser) | |
| X | g.71223885T>C | CA16616545 | GJB1 | c.178T>C (p.Cys60Arg) | ClinVar dbSNP |
| X | g.71223885T>G | CA413501295 | GJB1 | c.178T>G (p.Cys60Gly) | |
| X | g.71223885T= | CA2436388202 | GJB1 | c.178T= (p.Cys60=) | |
| X | g.71223886G>A | CA413501299 | GJB1 | c.179G>A (p.Cys60Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71223886G>C | CA413501301 | GJB1 | c.179G>C (p.Cys60Ser) | |
| X | g.71223886G= | CA2436388203 | GJB1 | c.179G= (p.Cys60=) | |
| X | g.71223886G>T | CA413501304 | GJB1 | c.179G>T (p.Cys60Phe) | ClinVar dbSNP |
| X | g.71223887C>A | CA413501307 | GJB1 | c.180C>A (p.Cys60Ter) | |
| X | g.71223887C>G | CA413501310 | GJB1 | c.180C>G (p.Cys60Trp) | |
| X | g.71223887C>T | CA516821254 | GJB1 | c.180C>T (p.Cys60=) | |
| X | g.71223888A>C | CA413501312 | GJB1 | c.181A>C (p.Asn61His) | |
| X | g.71223888A>G | CA413501315 | GJB1 | c.181A>G (p.Asn61Asp) | |
| X | g.71223888A>T | CA413501318 | GJB1 | c.181A>T (p.Asn61Tyr) | |
| X | g.71223889A= | CA2436388204 | GJB1 | c.182A= (p.Asn61=) | |
| X | g.71223889A>C | CA413501321 | GJB1 | c.182A>C (p.Asn61Thr) | |
| X | g.71223889A>G | CA413501322 | GJB1 | c.182A>G (p.Asn61Ser) | gnomAD v4 |
| X | g.71223889A>T | CA413501324 | GJB1 | c.182A>T (p.Asn61Ile) | |
| X | g.71223890C>A | CA413501326 | GJB1 | c.183C>A (p.Asn61Lys) | ClinVar dbSNP |
| X | g.71223890C= | CA2436388205 | GJB1 | c.183C= (p.Asn61=) | |
| X | g.71223890C>G | CA413501329 | GJB1 | c.183C>G (p.Asn61Lys) | ClinVar |
| X | g.71223890C>T | CA516821256 | GJB1 | c.183C>T (p.Asn61=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223890dup | CA658659009 | GJB1 | c.183dup (p.Ser62GlnfsTer5) | ClinVar dbSNP |
| X | g.71223891A>C | CA413501331 | GJB1 | c.184A>C (p.Ser62Arg) | ClinVar |
| X | g.71223891A>G | CA413501333 | GJB1 | c.184A>G (p.Ser62Gly) | |
| X | g.71223891A>T | CA413501335 | GJB1 | c.184A>T (p.Ser62Cys) | |
| X | g.71223892G>A | CA413501336 | GJB1 | c.185G>A (p.Ser62Asn) | |
| X | g.71223892G>C | CA413501337 | GJB1 | c.185G>C (p.Ser62Thr) | ClinVar |
| X | g.71223892G>T | CA413501339 | GJB1 | c.185G>T (p.Ser62Ile) | |
| X | g.71223893C>A | CA413501343 | GJB1 | c.186C>A (p.Ser62Arg) | ClinVar |
| X | g.71223893C= | CA2436388206 | GJB1 | c.186C= (p.Ser62=) | |
| X | g.71223893C>G | CA413501341 | GJB1 | c.186C>G (p.Ser62Arg) | ClinVar dbSNP |
| X | g.71223893C>T | CA516821260 | GJB1 | c.186C>T (p.Ser62=) | gnomAD v4 |
| X | g.71223894G>A | CA341598 | GJB1 | c.187G>A (p.Val63Ile) | ClinVar dbSNP gnomAD v4 |
| X | g.71223894G>C | CA413501345 | GJB1 | c.187G>C (p.Val63Leu) | |
| X | g.71223894G= | CA2436388207 | GJB1 | c.187G= (p.Val63=) | |
| X | g.71223894G>T | CA413501347 | GJB1 | c.187G>T (p.Val63Phe) | ClinVar dbSNP |
| X | g.71223895T>A | CA413501349 | GJB1 | c.188T>A (p.Val63Asp) | |
| X | g.71223895T>C | CA413501350 | GJB1 | c.188T>C (p.Val63Ala) | |
| X | g.71223895T>G | CA413501352 | GJB1 | c.188T>G (p.Val63Gly) | |
| X | g.71223896T>A | CA516821261 | GJB1 | c.189T>A (p.Val63=) | |
| X | g.71223896T>C | CA516821263 | GJB1 | c.189T>C (p.Val63=) | |
| X | g.71223896T>G | CA516821265 | GJB1 | c.189T>G (p.Val63=) | |
| X | g.71223897T>A | CA413501354 | GJB1 | c.190T>A (p.Cys64Ser) | |
| X | g.71223897T>C | CA413501356 | GJB1 | c.190T>C (p.Cys64Arg) | dbSNP |
| X | g.71223897T>G | CA413501355 | GJB1 | c.190T>G (p.Cys64Gly) | |
| X | g.71223898G>A | CA413501358 | GJB1 | c.191G>A (p.Cys64Tyr) | ClinVar dbSNP |
| X | g.71223898G>C | CA413501360 | GJB1 | c.191G>C (p.Cys64Ser) | ClinVar dbSNP |
| X | g.71223898G= | CA2436388208 | GJB1 | c.191G= (p.Cys64=) | |
| X | g.71223898G>T | CA413501361 | GJB1 | c.191G>T (p.Cys64Phe) | ClinVar dbSNP |
| X | g.71223899C>A | CA413501363 | GJB1 | c.192C>A (p.Cys64Ter) | ClinVar |
| X | g.71223899C>G | CA413501364 | GJB1 | c.192C>G (p.Cys64Trp) | ClinVar dbSNP |
| X | g.71223899C>T | CA516821268 | GJB1 | c.192C>T (p.Cys64=) | |
| X | g.71223900T>A | CA413501366 | GJB1 | c.193T>A (p.Tyr65Asn) | |
| X | g.71223900T>C | CA413501368 | GJB1 | c.193T>C (p.Tyr65His) | ClinVar dbSNP |
| X | g.71223900T>G | CA413501370 | GJB1 | c.193T>G (p.Tyr65Asp) | |
| X | g.71223900T= | CA2436388209 | GJB1 | c.193T= (p.Tyr65=) | |
| X | g.71223901A= | CA2436388210 | GJB1 | c.194A= (p.Tyr65=) | |
| X | g.71223901A>C | CA413501371 | GJB1 | c.194A>C (p.Tyr65Ser) | ClinVar dbSNP |
| X | g.71223901A>G | CA255248 | GJB1 | c.194A>G (p.Tyr65Cys) | ClinVar dbSNP |
| X | g.71223901A>T | CA413501373 | GJB1 | c.194A>T (p.Tyr65Phe) | |
| X | g.71223902T>A | CA413501375 | GJB1 | c.195T>A (p.Tyr65Ter) | |
| X | g.71223902T>C | CA516821273 | GJB1 | c.195T>C (p.Tyr65=) | |
| X | g.71223902T>G | CA413501376 | GJB1 | c.195T>G (p.Tyr65Ter) | ClinVar dbSNP |
| X | g.71223902T= | CA2436388211 | GJB1 | c.195T= (p.Tyr65=) | |
| X | g.71223902_71223905delinsTGAC | CA2436388212 | GJB1 | c.195_198delinsTGAC (p.Tyr65=) | |
| X | g.71223903G>A | CA413501380 | GJB1 | c.196G>A (p.Asp66Asn) | ClinVar dbSNP |
| X | g.71223903G>C | CA413501384 | GJB1 | c.196G>C (p.Asp66His) | |
| X | g.71223903G= | CA2436388213 | GJB1 | c.196G= (p.Asp66=) | |
| X | g.71223903G>T | CA413501382 | GJB1 | c.196G>T (p.Asp66Tyr) | ClinVar dbSNP gnomAD v4 |
| X | g.71223903_71223905del | CA915951183 | GJB1 | c.196_198del (p.Asp66del) | ClinVar dbSNP |
| X | g.71223904A>C | CA413501386 | GJB1 | c.197A>C (p.Asp66Ala) | |
| X | g.71223904A>G | CA413501388 | GJB1 | c.197A>G (p.Asp66Gly) | ClinVar |
| X | g.71223904A>T | CA413501391 | GJB1 | c.197A>T (p.Asp66Val) | |
| X | g.71223905C>A | CA413501394 | GJB1 | c.198C>A (p.Asp66Glu) | COSMIC |
| X | g.71223905C>G | CA413501397 | GJB1 | c.198C>G (p.Asp66Glu) | ClinVar |
| X | g.71223905C>T | CA516821275 | GJB1 | c.198C>T (p.Asp66=) | ClinVar |
| X | g.71223906C>A | CA413501400 | GJB1 | c.199C>A (p.Gln67Lys) | |
| X | g.71223906C= | CA2436388214 | GJB1 | c.199C= (p.Gln67=) | |
| X | g.71223906C>G | CA413501401 | GJB1 | c.199C>G (p.Gln67Glu) | |
| X | g.71223906C>T | CA413501411 | GJB1 | c.199C>T (p.Gln67Ter) | ClinVar dbSNP |
| X | g.71223907A>C | CA413501416 | GJB1 | c.200A>C (p.Gln67Pro) | |
| X | g.71223907A>G | CA413501418 | GJB1 | c.200A>G (p.Gln67Arg) | |
| X | g.71223907A>T | CA413501419 | GJB1 | c.200A>T (p.Gln67Leu) | |
| X | g.71223908A= | CA2436388215 | GJB1 | c.201A= (p.Gln67=) | |
| X | g.71223908A>C | CA413501423 | GJB1 | c.201A>C (p.Gln67His) | dbSNP |
| X | g.71223908A>G | CA516821278 | GJB1 | c.201A>G (p.Gln67=) | ClinVar |
| X | g.71223908A>T | CA413501425 | GJB1 | c.201A>T (p.Gln67His) | |
| X | g.71223909T>A | CA413501428 | GJB1 | c.202T>A (p.Phe68Ile) | |
| X | g.71223909T>C | CA413501433 | GJB1 | c.202T>C (p.Phe68Leu) | |
| X | g.71223909T>G | CA413501430 | GJB1 | c.202T>G (p.Phe68Val) | |
| X | g.71223910T>A | CA413501437 | GJB1 | c.203T>A (p.Phe68Tyr) | |
| X | g.71223910T>C | CA413501440 | GJB1 | c.203T>C (p.Phe68Ser) | |
| X | g.71223910T>G | CA413501441 | GJB1 | c.203T>G (p.Phe68Cys) | |
| X | g.71223911C>A | CA413501450 | GJB1 | c.204C>A (p.Phe68Leu) | gnomAD v4 |
| X | g.71223911C= | CA2436388216 | GJB1 | c.204C= (p.Phe68=) | |
| X | g.71223911C>G | CA413501452 | GJB1 | c.204C>G (p.Phe68Leu) | |
| X | g.71223911C>T | CA516821283 | GJB1 | c.204C>T (p.Phe68=) | dbSNP gnomAD v4 |
| X | g.71223912T>A | CA413501454 | GJB1 | c.205T>A (p.Phe69Ile) | |
| X | g.71223912T>C | CA413501457 | GJB1 | c.205T>C (p.Phe69Leu) | ClinVar dbSNP |
| X | g.71223912T>G | CA413501460 | GJB1 | c.205T>G (p.Phe69Val) | |
| X | g.71223912T= | CA2436388217 | GJB1 | c.205T= (p.Phe69=) | |
| X | g.71223913T>A | CA413501462 | GJB1 | c.206T>A (p.Phe69Tyr) | |
| X | g.71223913T>C | CA413501464 | GJB1 | c.206T>C (p.Phe69Ser) | |
| X | g.71223913T>G | CA413501467 | GJB1 | c.206T>G (p.Phe69Cys) | ClinVar |
| X | g.71223913T= | CA2436388218 | GJB1 | c.206T= (p.Phe69=) | |
| X | g.71223914C>A | CA413501470 | GJB1 | c.207C>A (p.Phe69Leu) | |
| X | g.71223914C>G | CA413501472 | GJB1 | c.207C>G (p.Phe69Leu) | |
| X | g.71223914C>T | CA516821285 | GJB1 | c.207C>T (p.Phe69=) | |
| X | g.71223917dup | CA915951184 | GJB1 | c.210dup (p.Ile71HisfsTer?) | ClinVar dbSNP |
| X | g.71223915C>A | CA413501474 | GJB1 | c.208C>A (p.Pro70Thr) | |
| X | g.71223915C= | CA2436388219 | GJB1 | c.208C= (p.Pro70=) | |
| X | g.71223915C>G | CA10583953 | GJB1 | c.208C>G (p.Pro70Ala) | ClinVar dbSNP |
| X | g.71223915C>T | CA413501479 | GJB1 | c.208C>T (p.Pro70Ser) | ClinVar dbSNP |
| X | g.71223915_71223916delinsCC | CA2436388220 | GJB1 | c.208_209delinsCC (p.Pro70=) | |
| X | g.71223915_71223916delinsTT | CA915951185 | GJB1 | c.208_209delinsTT (p.Pro70Phe) | ClinVar dbSNP |
| X | g.71223916C>A | CA413501483 | GJB1 | c.209C>A (p.Pro70His) | |
| X | g.71223916C>G | CA413501485 | GJB1 | c.209C>G (p.Pro70Arg) | |
| X | g.71223916C>T | CA413501488 | GJB1 | c.209C>T (p.Pro70Leu) | |
| X | g.71223917C>A | CA516821288 | GJB1 | c.210C>A (p.Pro70=) | |
| X | g.71223917C>G | CA516821290 | GJB1 | c.210C>G (p.Pro70=) | |
| X | g.71223917C>T | CA516821291 | GJB1 | c.210C>T (p.Pro70=) | |
| X | g.71223918A= | CA2436388221 | GJB1 | c.211A= (p.Ile71=) | |
| X | g.71223918A>C | CA413501491 | GJB1 | c.211A>C (p.Ile71Leu) | |
| X | g.71223918A>G | CA413501493 | GJB1 | c.211A>G (p.Ile71Val) | ClinVar dbSNP |
| X | g.71223918A>T | CA413501496 | GJB1 | c.211A>T (p.Ile71Phe) | |
| X | g.71223919T>A | CA413501499 | GJB1 | c.212T>A (p.Ile71Asn) | ClinVar dbSNP |
| X | g.71223919T>C | CA413501501 | GJB1 | c.212T>C (p.Ile71Thr) | ClinVar |
| X | g.71223919T>G | CA413501504 | GJB1 | c.212T>G (p.Ile71Ser) | ClinVar dbSNP |
| X | g.71223919T= | CA2436388222 | GJB1 | c.212T= (p.Ile71=) | |
| 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=) |