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.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223816_71223817delinsGT | CA2436388152 | GJB1 | c.109_110delinsGT (p.Val37=) | |
| X | g.71223817del | CA915951176 | GJB1 | c.110del (p.Val37GlyfsTer?) | ClinVar dbSNP |
| X | g.71223817T>A | CA413500959 | GJB1 | c.110T>A (p.Val37Glu) | ClinVar |
| X | g.71223817T>C | CA413500961 | GJB1 | c.110T>C (p.Val37Ala) | |
| X | g.71223817T>G | CA413500963 | GJB1 | c.110T>G (p.Val37Gly) | |
| X | g.71223817T= | CA2436388153 | GJB1 | c.110T= (p.Val37=) | |
| X | g.71223818G>A | CA516821151 | GJB1 | c.111G>A (p.Val37=) | dbSNP |
| X | g.71223818G>C | CA516821152 | GJB1 | c.111G>C (p.Val37=) | |
| X | g.71223818G= | CA2436388154 | GJB1 | c.111G= (p.Val37=) | |
| X | g.71223818G>T | CA516821154 | GJB1 | c.111G>T (p.Val37=) | |
| X | g.71223818_71223819dup | CA1139667644 | GJB1 | c.111_112dup (p.Val38GlyfsTer?) | ClinVar dbSNP |
| X | g.71223819G>A | CA10584634 | GJB1 | c.112G>A (p.Val38Met) | ClinVar dbSNP |
| X | g.71223819G>C | CA413500966 | GJB1 | c.112G>C (p.Val38Leu) | |
| X | g.71223819G= | CA2436388155 | GJB1 | c.112G= (p.Val38=) | |
| X | g.71223819G>T | CA413500964 | GJB1 | c.112G>T (p.Val38Leu) | |
| X | g.71223820T>A | CA413500968 | GJB1 | c.113T>A (p.Val38Glu) | |
| X | g.71223820T>C | CA413500975 | GJB1 | c.113T>C (p.Val38Ala) | ClinVar dbSNP |
| X | g.71223820T>G | CA338636 | GJB1 | c.113T>G (p.Val38Gly) | ClinVar dbSNP |
| X | g.71223820T= | CA2436388156 | GJB1 | c.113T= (p.Val38=) | |
| X | g.71223820_71223821delinsTG | CA2436388157 | GJB1 | c.113_114delinsTG (p.Val38=) | |
| X | g.71223821G>A | CA516821157 | GJB1 | c.114G>A (p.Val38=) | |
| X | g.71223821G>C | CA516821158 | GJB1 | c.114G>C (p.Val38=) | |
| X | g.71223821G= | CA2436388158 | GJB1 | c.114G= (p.Val38=) | |
| X | g.71223821G>T | CA516821160 | GJB1 | c.114G>T (p.Val38=) | |
| X | g.71223822del | CA915951177 | GJB1 | c.115del (p.Ala39LeufsTer?) | ClinVar dbSNP |
| X | g.71223821_71223822insC | CA915951178 | GJB1 | c.114_115insC (p.Ala39ArgfsTer8) | ClinVar dbSNP |
| X | g.71223822G>A | CA413500977 | GJB1 | c.115G>A (p.Ala39Thr) | ClinVar gnomAD v4 |
| X | g.71223822G>C | CA413500982 | GJB1 | c.115G>C (p.Ala39Pro) | ClinVar dbSNP |
| X | g.71223822G= | CA2436388159 | GJB1 | c.115G= (p.Ala39=) | |
| X | g.71223822G>T | CA413500980 | GJB1 | c.115G>T (p.Ala39Ser) | |
| X | g.71223822_71223823delinsGC | CA2436388160 | GJB1 | c.115_116delinsGC (p.Ala39=) | |
| X | g.71223823del | CA915951179 | GJB1 | c.116del (p.Ala39ValfsTer?) | ClinVar dbSNP |
| X | g.71223823C>A | CA413500984 | GJB1 | c.116C>A (p.Ala39Asp) | |
| X | g.71223823C= | CA2436388161 | GJB1 | c.116C= (p.Ala39=) | |
| X | g.71223823C>G | CA413500987 | GJB1 | c.116C>G (p.Ala39Gly) | ClinVar dbSNP |
| X | g.71223823C>T | CA334139 | GJB1 | c.116C>T (p.Ala39Val) | ClinVar dbSNP gnomAD v4 |
| X | g.71223824T>A | CA516821166 | GJB1 | c.117T>A (p.Ala39=) | |
| X | g.71223824T>C | CA516821167 | GJB1 | c.117T>C (p.Ala39=) | |
| X | g.71223824T>G | CA516821168 | GJB1 | c.117T>G (p.Ala39=) | |
| X | g.71223825G>A | CA413500989 | GJB1 | c.118G>A (p.Ala40Thr) | ClinVar dbSNP |
| X | g.71223825G>C | CA413500991 | GJB1 | c.118G>C (p.Ala40Pro) | |
| X | g.71223825G= | CA2436388162 | GJB1 | c.118G= (p.Ala40=) | |
| X | g.71223825G>T | CA413500990 | GJB1 | c.118G>T (p.Ala40Ser) | ClinVar dbSNP |
| X | g.71223826C>A | CA413500992 | GJB1 | c.119C>A (p.Ala40Glu) | |
| X | g.71223826C= | CA2436388163 | GJB1 | c.119C= (p.Ala40=) | |
| X | g.71223826C>G | CA413500996 | GJB1 | c.119C>G (p.Ala40Gly) | |
| X | g.71223826C>T | CA413500994 | GJB1 | c.119C>T (p.Ala40Val) | ClinVar dbSNP |
| X | g.71223826_71223828delinsCAG | CA2436388164 | GJB1 | c.119_121delinsCAG (p.Ala40=) | |
| X | g.71223827A= | CA2436388165 | GJB1 | c.120A= (p.Ala40=) | |
| X | g.71223827A>C | CA516821174 | GJB1 | c.120A>C (p.Ala40=) | |
| X | g.71223827A>G | CA516821176 | GJB1 | c.120A>G (p.Ala40=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223827A>T | CA516821175 | GJB1 | c.120A>T (p.Ala40=) | |
| X | g.71223831_71223832del | CA915951180 | GJB1 | c.124_125del (p.Ser42CysfsTer4) | ClinVar dbSNP |
| X | g.71223827_71223828insCCACCAGCT | CA891844218 | GJB1 | c.120_121insCCACCAGCT (p.Ala40_Glu41insProProAla) | ClinVar dbSNP |
| X | g.71223828G>A | CA413500999 | GJB1 | c.121G>A (p.Glu41Lys) | ClinVar dbSNP |
| X | g.71223828G>C | CA413501001 | GJB1 | c.121G>C (p.Glu41Gln) | |
| X | g.71223828G= | CA2436388166 | GJB1 | c.121G= (p.Glu41=) | |
| X | g.71223828G>T | CA413501003 | GJB1 | c.121G>T (p.Glu41Ter) | COSMIC |
| X | g.71223829A>C | CA413501005 | GJB1 | c.122A>C (p.Glu41Ala) | |
| X | g.71223829A>G | CA413501007 | GJB1 | c.122A>G (p.Glu41Gly) | |
| X | g.71223829A>T | CA413501008 | GJB1 | c.122A>T (p.Glu41Val) | |
| X | g.71223830G>A | CA516821181 | GJB1 | c.123G>A (p.Glu41=) | |
| X | g.71223830G>C | CA341591 | GJB1 | c.123G>C (p.Glu41Asp) | ClinVar dbSNP |
| X | g.71223830G= | CA2436388167 | GJB1 | c.123G= (p.Glu41=) | |
| X | g.71223830G>T | CA413501011 | GJB1 | c.123G>T (p.Glu41Asp) | COSMIC |
| X | g.71223831del | CA2695234559 | GJB1 | c.124del (p.Ser42ValfsTer?) | |
| X | g.71223831A= | CA2436388168 | GJB1 | c.124A= (p.Ser42=) | |
| X | g.71223831A>C | CA413501013 | GJB1 | c.124A>C (p.Ser42Arg) | |
| X | g.71223831A>G | CA413501014 | GJB1 | c.124A>G (p.Ser42Gly) | ClinVar |
| X | g.71223831A>T | CA413501016 | GJB1 | c.124A>T (p.Ser42Cys) | ClinVar dbSNP |
| X | g.71223832G>A | CA413501021 | GJB1 | c.125G>A (p.Ser42Asn) | |
| X | g.71223832G>C | CA413501018 | GJB1 | c.125G>C (p.Ser42Thr) | |
| X | g.71223832G>T | CA413501019 | GJB1 | c.125G>T (p.Ser42Ile) | |
| X | g.71223833T>A | CA413501022 | GJB1 | c.126T>A (p.Ser42Arg) | |
| X | g.71223833T>C | CA516821183 | GJB1 | c.126T>C (p.Ser42=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223833T>G | CA413501024 | GJB1 | c.126T>G (p.Ser42Arg) | |
| X | g.71223833T= | CA2436388169 | GJB1 | c.126T= (p.Ser42=) | |
| X | g.71223834G>A | CA413501026 | GJB1 | c.127G>A (p.Val43Met) | ClinVar dbSNP |
| X | g.71223834G>C | CA413501027 | GJB1 | c.127G>C (p.Val43Leu) | ClinVar dbSNP |
| X | g.71223834G= | CA2436388170 | GJB1 | c.127G= (p.Val43=) | |
| X | g.71223834G>T | CA413501028 | GJB1 | c.127G>T (p.Val43Leu) | |
| X | g.71223835T>A | CA413501030 | GJB1 | c.128T>A (p.Val43Glu) | ClinVar dbSNP |
| X | g.71223835T>C | CA413501032 | GJB1 | c.128T>C (p.Val43Ala) | |
| X | g.71223835T>G | CA413501033 | GJB1 | c.128T>G (p.Val43Gly) | |
| X | g.71223835T= | CA2436388171 | GJB1 | c.128T= (p.Val43=) | |
| X | g.71223836G>A | CA516821187 | GJB1 | c.129G>A (p.Val43=) | ClinVar dbSNP |
| X | g.71223836G>C | CA516821188 | GJB1 | c.129G>C (p.Val43=) | |
| X | g.71223836G>T | CA516821190 | GJB1 | c.129G>T (p.Val43=) | |
| X | g.71223837T>A | CA413501040 | GJB1 | c.130T>A (p.Trp44Arg) | |
| X | g.71223837T>C | CA413501042 | GJB1 | c.130T>C (p.Trp44Arg) | |
| X | g.71223837T>G | CA413501044 | GJB1 | c.130T>G (p.Trp44Gly) | |
| X | g.71223838G>A | CA10581119 | GJB1 | c.131G>A (p.Trp44Ter) | ClinVar dbSNP |
| X | g.71223838G>C | CA413501049 | GJB1 | c.131G>C (p.Trp44Ser) | |
| X | g.71223838G= | CA2436388172 | GJB1 | c.131G= (p.Trp44=) | |
| X | g.71223838G>T | CA413501047 | GJB1 | c.131G>T (p.Trp44Leu) | ClinVar dbSNP |
| 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=) |