13 | g.20189095_20189137del | CA912980093 | GJB2 | c.445_487del (p.Ala149CysfsTer5)
| |
13 | g.20189095_20189137delinsTGGAGAAGCCGTCGTACATGACATAGAAGACGTACATGAAGGC | CA2077139077 | GJB2 | c.445_487delinsGCCTTCATGTACGTCTTCTATGTCATGTACGACGGCTTCTCCA (p.Ala149=)
| |
13 | g.20189098_20189139del | CA658823446 | GJB2 | c.445_486del (p.Ala149_Ser162del)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189116_20189133dup | CA2077139122 | GJB2 | c.458_475dup (p.Tyr158_Asp159insValPheTyrValMetTyr)
| ClinVar dbSNP |
13 | g.20189122_20189129delinsGTCTTCTCT | CA2580086788 | GJB2 | c.453_460delinsAGAGAAGAC (p.Met151IlefsTer?)
| ClinVar |
13 | g.20189123G>A | CA483153947 | GJB2 | c.459C>T (p.Val153=)
| |
13 | g.20189123G>C | CA483153948 | GJB2 | c.459C>G (p.Val153=)
| |
13 | g.20189123G>T | CA483153949 | GJB2 | c.459C>A (p.Val153=)
| |
13 | g.20189124A>C | CA387461105 | GJB2 | c.458T>G (p.Val153Gly)
| |
13 | g.20189124A>G | CA387461103 | GJB2 | c.458T>C (p.Val153Ala)
| ClinVar |
13 | g.20189124A>T | CA387461104 | GJB2 | c.458T>A (p.Val153Asp)
| |
13 | g.20189125C>A | CA387461106 | GJB2 | c.457G>T (p.Val153Phe)
| dbSNP gnomAD v4 |
13 | g.20189125C= | CA2077139163 | GJB2 | c.457G= (p.Val153=)
| |
13 | g.20189125C>G | CA387461107 | GJB2 | c.457G>C (p.Val153Leu)
| |
13 | g.20189125C>T | CA134975 | GJB2 | c.457G>A (p.Val153Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189126G>A | CA483153950 | GJB2 | c.456C>T (p.Tyr152=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189126G>C | CA387461108 | GJB2 | c.456C>G (p.Tyr152Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189126G= | CA2077139170 | GJB2 | c.456C= (p.Tyr152=)
| |
13 | g.20189126G>T | CA261651 | GJB2 | c.456C>A (p.Tyr152Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189127T>A | CA387461109 | GJB2 | c.455A>T (p.Tyr152Phe)
| gnomAD v4 |
13 | g.20189127T>C | CA387461110 | GJB2 | c.455A>G (p.Tyr152Cys)
| |
13 | g.20189127T>G | CA387461111 | GJB2 | c.455A>C (p.Tyr152Ser)
| |
13 | g.20189128A= | CA2077139176 | GJB2 | c.454T= (p.Tyr152=)
| |
13 | g.20189128A>C | CA387461112 | GJB2 | c.454T>G (p.Tyr152Asp)
| dbSNP |
13 | g.20189128A>G | CA387461113 | GJB2 | c.454T>C (p.Tyr152His)
| gnomAD v4 |
13 | g.20189128A>T | CA387461114 | GJB2 | c.454T>A (p.Tyr152Asn)
| |
13 | g.20189129C>A | CA387461115 | GJB2 | c.453G>T (p.Met151Ile)
| |
13 | g.20189129C= | CA2077139179 | GJB2 | c.453G= (p.Met151=)
| |
13 | g.20189129C>G | CA387461116 | GJB2 | c.453G>C (p.Met151Ile)
| |
13 | g.20189129C>T | CA6904264 | GJB2 | c.453G>A (p.Met151Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189129dup | CA2842434864 | GJB2 | c.453dup (p.Tyr152ValfsTer?)
| |
13 | g.20189130A= | CA2077139183 | GJB2 | c.452T= (p.Met151=)
| |
13 | g.20189130A>C | CA387461117 | GJB2 | c.452T>G (p.Met151Arg)
| |
13 | g.20189130A>G | CA6904265 | GJB2 | c.452T>C (p.Met151Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189130A>T | CA387461118 | GJB2 | c.452T>A (p.Met151Lys)
| |
13 | g.20189131T>A | CA387461119 | GJB2 | c.451A>T (p.Met151Leu)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189131T>C | CA387461120 | GJB2 | c.451A>G (p.Met151Val)
| dbSNP gnomAD v4 |
13 | g.20189131T>G | CA387461121 | GJB2 | c.451A>C (p.Met151Leu)
| |
13 | g.20189131T= | CA2077139186 | GJB2 | c.451A= (p.Met151=)
| |
13 | g.20189132G>A | CA483153951 | GJB2 | c.450C>T (p.Phe150=)
| gnomAD v4 |
13 | g.20189132G>C | CA387461123 | GJB2 | c.450C>G (p.Phe150Leu)
| |
13 | g.20189132G>T | CA387461122 | GJB2 | c.450C>A (p.Phe150Leu)
| COSMIC |
13 | g.20189132_20189151del | CA2695217664 | GJB2 | c.431_450del (p.Val144AspfsTer?)
| |
13 | g.20189133A= | CA2077139188 | GJB2 | c.449T= (p.Phe150=)
| |
13 | g.20189133A>C | CA387461124 | GJB2 | c.449T>G (p.Phe150Cys)
| |
13 | g.20189133A>G | CA387461125 | GJB2 | c.449T>C (p.Phe150Ser)
| |
13 | g.20189133A>T | CA387461126 | GJB2 | c.449T>A (p.Phe150Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189134del | CA2580086789 | GJB2 | c.449del (p.Phe150SerfsTer18)
| ClinVar |
13 | g.20189133_20189151del | CA2695217665 | GJB2 | c.431_449del (p.Val144AlafsTer18)
| |
13 | g.20189134A= | CA2077139190 | GJB2 | c.448T= (p.Phe150=)
| |
13 | g.20189134A>C | CA387461127 | GJB2 | c.448T>G (p.Phe150Val)
| |
13 | g.20189134A>G | CA387461128 | GJB2 | c.448T>C (p.Phe150Leu)
| |
13 | g.20189134A>T | CA6904266 | GJB2 | c.448T>A (p.Phe150Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189135G>A | CA483153952 | GJB2 | c.447C>T (p.Ala149=)
| ClinVar |
13 | g.20189135G>C | CA483153953 | GJB2 | c.447C>G (p.Ala149=)
| |
13 | g.20189135G>T | CA483153954 | GJB2 | c.447C>A (p.Ala149=)
| ClinVar dbSNP |
13 | g.20189136G>A | CA387461129 | GJB2 | c.446C>T (p.Ala149Val)
| gnomAD v4 |
13 | g.20189136G>C | CA387461131 | GJB2 | c.446C>G (p.Ala149Gly)
| |
13 | g.20189136G>T | CA387461130 | GJB2 | c.446C>A (p.Ala149Asp)
| ClinVar dbSNP |
13 | g.20189137C>A | CA6904267 | GJB2 | c.445G>T (p.Ala149Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189137C= | CA2077139196 | GJB2 | c.445G= (p.Ala149=)
| |
13 | g.20189137C>G | CA387461132 | GJB2 | c.445G>C (p.Ala149Pro)
| |
13 | g.20189137C>T | CA134973 | GJB2 | c.445G>A (p.Ala149Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189138G>A | CA6904268 | GJB2 | c.444C>T (p.Ala148=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189138G>C | CA483153956 | GJB2 | c.444C>G (p.Ala148=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189138G= | CA2077139202 | GJB2 | c.444C= (p.Ala148=)
| |
13 | g.20189138G>T | CA483153955 | GJB2 | c.444C>A (p.Ala148=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189139del | CA2695217666 | GJB2 | c.444del (p.Ala149ProfsTer19)
| |
13 | g.20189139G>A | CA387461133 | GJB2 | c.443C>T (p.Ala148Val)
| COSMIC |
13 | g.20189139G>C | CA387461134 | GJB2 | c.443C>G (p.Ala148Gly)
| |
13 | g.20189139G>T | CA387461135 | GJB2 | c.443C>A (p.Ala148Asp)
| |
13 | g.20189140C>A | CA387461136 | GJB2 | c.442G>T (p.Ala148Ser)
| COSMIC |
13 | g.20189140C>G | CA387461137 | GJB2 | c.442G>C (p.Ala148Pro)
| |
13 | g.20189140C>T | CA387461138 | GJB2 | c.442G>A (p.Ala148Thr)
| |
13 | g.20189141T>A | CA387461139 | GJB2 | c.441A>T (p.Glu147Asp)
| |
13 | g.20189141T>C | CA483153957 | GJB2 | c.441A>G (p.Glu147=)
| ClinVar |
13 | g.20189141T>G | CA387461140 | GJB2 | c.441A>C (p.Glu147Asp)
| |
13 | g.20189142T>A | CA387461143 | GJB2 | c.440A>T (p.Glu147Val)
| |
13 | g.20189142T>C | CA387461142 | GJB2 | c.440A>G (p.Glu147Gly)
| ClinVar dbSNP |
13 | g.20189142T>G | CA387461141 | GJB2 | c.440A>C (p.Glu147Ala)
| |
13 | g.20189142T= | CA2077139207 | GJB2 | c.440A= (p.Glu147=)
| |
13 | g.20189143C>A | CA387461145 | GJB2 | c.439G>T (p.Glu147Ter)
| |
13 | g.20189143C= | CA2077139213 | GJB2 | c.439G= (p.Glu147=)
| |
13 | g.20189143C>G | CA387461144 | GJB2 | c.439G>C (p.Glu147Gln)
| |
13 | g.20189143C>T | CA6904269 | GJB2 | c.439G>A (p.Glu147Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>A | CA6904270 | GJB2 | c.438C>T (p.Phe146=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189144G>C | CA387461147 | GJB2 | c.438C>G (p.Phe146Leu)
| COSMIC |
13 | g.20189144G= | CA2077139219 | GJB2 | c.438C= (p.Phe146=)
| |
13 | g.20189144G>T | CA387461146 | GJB2 | c.438C>A (p.Phe146Leu)
| |
13 | g.20189145A>C | CA387461148 | GJB2 | c.437T>G (p.Phe146Cys)
| |
13 | g.20189145A>G | CA387461149 | GJB2 | c.437T>C (p.Phe146Ser)
| |
13 | g.20189145A>T | CA387461150 | GJB2 | c.437T>A (p.Phe146Tyr)
| |
13 | g.20189146A>C | CA387461151 | GJB2 | c.436T>G (p.Phe146Val)
| |
13 | g.20189146A>G | CA387461152 | GJB2 | c.436T>C (p.Phe146Leu)
| |
13 | g.20189146A>T | CA387461153 | GJB2 | c.436T>A (p.Phe146Ile)
| |
13 | g.20189147_20189148del | CA2695217667 | GJB2 | c.435_436del (p.Phe146ArgfsTer?)
| |
13 | g.20189146_20189149delinsAGAT | CA2077139221 | GJB2 | c.433_436delinsATCT (p.Ile145=)
| |
13 | g.20189147G>A | CA483153958 | GJB2 | c.435C>T (p.Ile145=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189147G>C | CA387461154 | GJB2 | c.435C>G (p.Ile145Met)
| |
13 | g.20189147G= | CA2077139228 | GJB2 | c.435C= (p.Ile145=)
| |
13 | g.20189147G>T | CA483153959 | GJB2 | c.435C>A (p.Ile145=)
| |
13 | g.20189149_20189151del | CA246460156 | GJB2 | c.433_435del (p.Ile145del)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189148A>C | CA387461155 | GJB2 | c.434T>G (p.Ile145Ser)
| |
13 | g.20189148A>G | CA387461156 | GJB2 | c.434T>C (p.Ile145Thr)
| |
13 | g.20189148A>T | CA387461157 | GJB2 | c.434T>A (p.Ile145Asn)
| |
13 | g.20189149T>A | CA387461158 | GJB2 | c.433A>T (p.Ile145Phe)
| |
13 | g.20189149T>C | CA387461159 | GJB2 | c.433A>G (p.Ile145Val)
| |
13 | g.20189149T>G | CA387461160 | GJB2 | c.433A>C (p.Ile145Leu)
| |
13 | g.20189150G>A | CA483153960 | GJB2 | c.432C>T (p.Val144=)
| ClinVar |
13 | g.20189150G>C | CA483153961 | GJB2 | c.432C>G (p.Val144=)
| |
13 | g.20189150G>T | CA483153962 | GJB2 | c.432C>A (p.Val144=)
| ClinVar gnomAD v4 |
13 | g.20189151A>C | CA387461163 | GJB2 | c.431T>G (p.Val144Gly)
| |
13 | g.20189151A>G | CA387461162 | GJB2 | c.431T>C (p.Val144Ala)
| |
13 | g.20189151A>T | CA387461161 | GJB2 | c.431T>A (p.Val144Asp)
| |
13 | g.20189152C>A | CA387461164 | GJB2 | c.430G>T (p.Val144Phe)
| |
13 | g.20189152C= | CA2077139234 | GJB2 | c.430G= (p.Val144=)
| |
13 | g.20189152C>G | CA387461165 | GJB2 | c.430G>C (p.Val144Leu)
| gnomAD v4 |
13 | g.20189152C>T | CA387461166 | GJB2 | c.430G>A (p.Val144Ile)
| dbSNP |
13 | g.20189153C>A | CA483153963 | GJB2 | c.429G>T (p.Arg143=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189153C>G | CA483153964 | GJB2 | c.429G>C (p.Arg143=)
| |
13 | g.20189153C>T | CA483153965 | GJB2 | c.429G>A (p.Arg143=)
| gnomAD v4 |
13 | g.20189154C>A | CA387461167 | GJB2 | c.428G>T (p.Arg143Leu)
| gnomAD v4 |
13 | g.20189154C= | CA2077139238 | GJB2 | c.428G= (p.Arg143=)
| |
13 | g.20189154C>G | CA387461168 | GJB2 | c.428G>C (p.Arg143Pro)
| |
13 | g.20189154C>T | CA257677 | GJB2 | c.428G>A (p.Arg143Gln)
| ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189155G>A | CA172234 | GJB2 | c.427C>T (p.Arg143Trp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189155G>C | CA387461169 | GJB2 | c.427C>G (p.Arg143Gly)
| |
13 | g.20189155G= | CA2077139242 | GJB2 | c.427C= (p.Arg143=)
| |
13 | g.20189155G>T | CA483153966 | GJB2 | c.427C>A (p.Arg143=)
| |
13 | g.20189156G>A | CA483153967 | GJB2 | c.426C>T (p.Phe142=)
| gnomAD v4 |
13 | g.20189156G>C | CA387461170 | GJB2 | c.426C>G (p.Phe142Leu)
| |
13 | g.20189156G= | CA2077139248 | GJB2 | c.426C= (p.Phe142=)
| |
13 | g.20189156G>T | CA261647 | GJB2 | c.426C>A (p.Phe142Leu)
| ClinVar dbSNP |
13 | g.20189161_20189163del | CA2580614612 | GJB2 | c.424_426del (p.Phe142del)
| ClinVar |
13 | g.20189157A= | CA2077139253 | GJB2 | c.425T= (p.Phe142=)
| |
13 | g.20189157A>C | CA387461171 | GJB2 | c.425T>G (p.Phe142Cys)
| gnomAD v4 |
13 | g.20189157A>G | CA6904271 | GJB2 | c.425T>C (p.Phe142Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189157A>T | CA387461172 | GJB2 | c.425T>A (p.Phe142Tyr)
| |
13 | g.20189158A>C | CA387461174 | GJB2 | c.424T>G (p.Phe142Val)
| |
13 | g.20189158A>G | CA387461175 | GJB2 | c.424T>C (p.Phe142Leu)
| |
13 | g.20189158A>T | CA387461173 | GJB2 | c.424T>A (p.Phe142Ile)
| |
13 | g.20189159G>A | CA483153968 | GJB2 | c.423C>T (p.Phe141=)
| ClinVar gnomAD v4 |
13 | g.20189159G>C | CA387461176 | GJB2 | c.423C>G (p.Phe141Leu)
| COSMIC |
13 | g.20189159G>T | CA387461177 | GJB2 | c.423C>A (p.Phe141Leu)
| |
13 | g.20189160A>C | CA387461178 | GJB2 | c.422T>G (p.Phe141Cys)
| |
13 | g.20189160A>G | CA387461179 | GJB2 | c.422T>C (p.Phe141Ser)
| |
13 | g.20189160A>T | CA387461180 | GJB2 | c.422T>A (p.Phe141Tyr)
| |
13 | g.20189161A>C | CA387461181 | GJB2 | c.421T>G (p.Phe141Val)
| |
13 | g.20189161A>G | CA387461182 | GJB2 | c.421T>C (p.Phe141Leu)
| |
13 | g.20189161A>T | CA387461183 | GJB2 | c.421T>A (p.Phe141Ile)
| |
13 | g.20189162G>A | CA483153969 | GJB2 | c.420C>T (p.Ile140=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189162G>C | CA387461184 | GJB2 | c.420C>G (p.Ile140Met)
| |
13 | g.20189162G= | CA2077139258 | GJB2 | c.420C= (p.Ile140=)
| |
13 | g.20189162G>T | CA483153970 | GJB2 | c.420C>A (p.Ile140=)
| dbSNP gnomAD v2 |
13 | g.20189163A>C | CA387461185 | GJB2 | c.419T>G (p.Ile140Ser)
| ClinVar |
13 | g.20189163A>G | CA387461186 | GJB2 | c.419T>C (p.Ile140Thr)
| |
13 | g.20189163A>T | CA387461187 | GJB2 | c.419T>A (p.Ile140Asn)
| |
13 | g.20189164T>A | CA387461190 | GJB2 | c.418A>T (p.Ile140Phe)
| |
13 | g.20189164T>C | CA387461188 | GJB2 | c.418A>G (p.Ile140Val)
| |
13 | g.20189164T>G | CA387461189 | GJB2 | c.418A>C (p.Ile140Leu)
| |
13 | g.20189165G>A | CA483153971 | GJB2 | c.417C>T (p.Ser139=)
| |
13 | g.20189165G>C | CA387461191 | GJB2 | c.417C>G (p.Ser139Arg)
| |
13 | g.20189165G>T | CA387461192 | GJB2 | c.417C>A (p.Ser139Arg)
| |
13 | g.20189165dup | CA2842434865 | GJB2 | c.417dup (p.Ile140HisfsTer?)
| |
13 | g.20189166C>A | CA387461193 | GJB2 | c.416G>T (p.Ser139Ile)
| |
13 | g.20189166C= | CA2077139263 | GJB2 | c.416G= (p.Ser139=)
| |
13 | g.20189166C>G | CA387461194 | GJB2 | c.416G>C (p.Ser139Thr)
| |
13 | g.20189166C>T | CA172232 | GJB2 | c.416G>A (p.Ser139Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189167T>A | CA387461195 | GJB2 | c.415A>T (p.Ser139Cys)
| ClinVar dbSNP |
13 | g.20189167T>C | CA387461196 | GJB2 | c.415A>G (p.Ser139Gly)
| |
13 | g.20189167T>G | CA387461197 | GJB2 | c.415A>C (p.Ser139Arg)
| |
13 | g.20189167T= | CA2077139269 | GJB2 | c.415A= (p.Ser139=)
| |
13 | g.20189167dup | CA2838202765 | GJB2 | c.415dup (p.Ser139LysfsTer?)
| |
13 | g.20189168G>A | CA483153972 | GJB2 | c.414C>T (p.Ser138=)
| |
13 | g.20189168G>C | CA387461198 | GJB2 | c.414C>G (p.Ser138Arg)
| |
13 | g.20189168G>T | CA387461199 | GJB2 | c.414C>A (p.Ser138Arg)
| |
13 | g.20189169C>A | CA387461202 | GJB2 | c.413G>T (p.Ser138Ile)
| |
13 | g.20189169C>G | CA387461201 | GJB2 | c.413G>C (p.Ser138Thr)
| |
13 | g.20189169C>T | CA387461200 | GJB2 | c.413G>A (p.Ser138Asn)
| gnomAD v4 |
13 | g.20189170T>A | CA387461203 | GJB2 | c.412A>T (p.Ser138Cys)
| |
13 | g.20189170T>C | CA134971 | GJB2 | c.412A>G (p.Ser138Gly)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189170T>G | CA387461204 | GJB2 | c.412A>C (p.Ser138Arg)
| |
13 | g.20189170T= | CA2077139274 | GJB2 | c.412A= (p.Ser138=)
| |
13 | g.20189171T>A | CA483153975 | GJB2 | c.411A>T (p.Thr137=)
| |
13 | g.20189171T>C | CA483153973 | GJB2 | c.411A>G (p.Thr137=)
| |
13 | g.20189171T>G | CA483153974 | GJB2 | c.411A>C (p.Thr137=)
| |
13 | g.20189172del | CA2622252287 | GJB2 | c.410del (p.Thr137LysfsTer?)
| gnomAD v4 |
13 | g.20189172G>A | CA387461205 | GJB2 | c.410C>T (p.Thr137Ile)
| dbSNP |
13 | g.20189172G>C | CA387461206 | GJB2 | c.410C>G (p.Thr137Arg)
| ClinVar dbSNP |
13 | g.20189172G= | CA2077139277 | GJB2 | c.410C= (p.Thr137=)
| |
13 | g.20189172G>T | CA387461207 | GJB2 | c.410C>A (p.Thr137Lys)
| |
13 | g.20189173T>A | CA387461210 | GJB2 | c.409A>T (p.Thr137Ser)
| |
13 | g.20189173T>C | CA387461209 | GJB2 | c.409A>G (p.Thr137Ala)
| |
13 | g.20189173T>G | CA387461208 | GJB2 | c.409A>C (p.Thr137Pro)
| ClinVar dbSNP |
13 | g.20189173dup | CA2695217668 | GJB2 | c.409dup (p.Thr137AsnfsTer?)
| |
13 | g.20189174G>A | CA483153976 | GJB2 | c.408C>T (p.Tyr136=)
| |
13 | g.20189174G>C | CA387461211 | GJB2 | c.408C>G (p.Tyr136Ter)
| |
13 | g.20189174G= | CA2077139285 | GJB2 | c.408C= (p.Tyr136=)
| |
13 | g.20189174G>T | CA274369 | GJB2 | c.408C>A (p.Tyr136Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.[20189174G>T;20189448C>T] | CA645372924 | GJB2 | c.[134G>A;408C>A] (p.[Gly45Glu;Tyr136Ter])
| |
13 | g.20189175T>A | CA387461212 | GJB2 | c.407A>T (p.Tyr136Phe)
| |
13 | g.20189175T>C | CA387461213 | GJB2 | c.407A>G (p.Tyr136Cys)
| |
13 | g.20189175T>G | CA387461214 | GJB2 | c.407A>C (p.Tyr136Ser)
| |
13 | g.20189175dup | CA6904272 | GJB2 | c.407dup (p.Tyr136Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189176A>C | CA387461215 | GJB2 | c.406T>G (p.Tyr136Asp)
| |
13 | g.20189176A>G | CA387461217 | GJB2 | c.406T>C (p.Tyr136His)
| |
13 | g.20189176A>T | CA387461216 | GJB2 | c.406T>A (p.Tyr136Asn)
| |
13 | g.20189176_20189177delinsAG | CA2077139293 | GJB2 | c.405_406delinsCT (p.Thr135=)
| |
13 | g.20189177G>A | CA483153977 | GJB2 | c.405C>T (p.Thr135=)
| ClinVar |
13 | g.20189177G>C | CA483153978 | GJB2 | c.405C>G (p.Thr135=)
| |
13 | g.20189177G>T | CA483153979 | GJB2 | c.405C>A (p.Thr135=)
| |
13 | g.20189178del | CA953781636 | GJB2 | c.405del (p.Tyr136ThrfsTer?)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189177_20189178insTTGAACTCCTGGGCTCAAGTGATCCTCTC | CA2622252288 | GJB2 | c.404_405insGAGAGGATCACTTGAGCCCAGGAGTTCAA (p.Tyr136ArgfsTer?)
| gnomAD v4 |
13 | g.20189178G>A | CA387461218 | GJB2 | c.404C>T (p.Thr135Ile)
| |
13 | g.20189178G>C | CA387461219 | GJB2 | c.404C>G (p.Thr135Ser)
| |
13 | g.20189178G>T | CA387461220 | GJB2 | c.404C>A (p.Thr135Asn)
| |
13 | g.20189178_20189181delinsGTCC | CA2077139298 | GJB2 | c.401_404delinsGGAC (p.Trp134=)
| |
13 | g.20189179del | CA2622252289 | GJB2 | c.403del (p.Thr135ProfsTer?)
| gnomAD v4 |
13 | g.20189179T>A | CA387461221 | GJB2 | c.403A>T (p.Thr135Ser)
| |
13 | g.20189179T>C | CA387461222 | GJB2 | c.403A>G (p.Thr135Ala)
| |
13 | g.20189179T>G | CA387461223 | GJB2 | c.403A>C (p.Thr135Pro)
| |
13 | g.20189179_20189180delinsTC | CA2077139306 | GJB2 | c.402_403delinsGA (p.Trp134=)
| |
13 | g.20189179_20189181del | CA658656318 | GJB2 | c.401_403del (p.Trp134_Thr135delinsSer)
| ClinVar dbSNP |
13 | g.20189180C>A | CA246460170 | GJB2 | c.402G>T (p.Trp134Cys)
| dbSNP gnomAD v4 |
13 | g.20189180C= | CA2077139313 | GJB2 | c.402G= (p.Trp134=)
| |
13 | g.20189180C>G | CA387461224 | GJB2 | c.402G>C (p.Trp134Cys)
| |
13 | g.20189180C>T | CA387461225 | GJB2 | c.402G>A (p.Trp134Ter)
| |
13 | g.20189181del | CA483153980 | GJB2 | c.402del (p.Trp134Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189180_20189181insT | CA2622252290 | GJB2 | c.401_402insA (p.Trp134Ter)
| gnomAD v4 |
13 | g.20189181C>A | CA387461226 | GJB2 | c.401G>T (p.Trp134Leu)
| |
13 | g.20189181C>G | CA387461227 | GJB2 | c.401G>C (p.Trp134Ser)
| |
13 | g.20189181C>T | CA387461228 | GJB2 | c.401G>A (p.Trp134Ter)
| |
13 | g.20189182A= | CA2077139317 | GJB2 | c.400T= (p.Trp134=)
| |
13 | g.20189182A>C | CA387461229 | GJB2 | c.400T>G (p.Trp134Gly)
| |
13 | g.20189182A>G | CA10581509 | GJB2 | c.400T>C (p.Trp134Arg)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189182A>T | CA387461230 | GJB2 | c.400T>A (p.Trp134Arg)
| |
13 | g.20189182_20189183insGCCTC | CA2622252291 | GJB2 | c.399_400insGAGGC (p.Trp134GlufsTer?)
| gnomAD v4 |
13 | g.20189183C>A | CA387461231 | GJB2 | c.399G>T (p.Trp133Cys)
| |
13 | g.20189183C= | CA2077139322 | GJB2 | c.399G= (p.Trp133=)
| |
13 | g.20189183C>G | CA387461232 | GJB2 | c.399G>C (p.Trp133Cys)
| |
13 | g.20189183C>T | CA246460171 | GJB2 | c.399G>A (p.Trp133Ter)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189185_20189194del | CA2695217669 | GJB2 | c.390_399del (p.Ser131GlyfsTer?)
| |
13 | g.20189184C>A | CA387461233 | GJB2 | c.398G>T (p.Trp133Leu)
| |
13 | g.20189184C>G | CA387461234 | GJB2 | c.398G>C (p.Trp133Ser)
| |
13 | g.20189184C>T | CA387461235 | GJB2 | c.398G>A (p.Trp133Ter)
| |
13 | g.20189185A>C | CA387461236 | GJB2 | c.397T>G (p.Trp133Gly)
| |
13 | g.20189185A>G | CA387461237 | GJB2 | c.397T>C (p.Trp133Arg)
| |
13 | g.20189185A>T | CA387461238 | GJB2 | c.397T>A (p.Trp133Arg)
| |
13 | g.20189186C>A | CA483153981 | GJB2 | c.396G>T (p.Leu132=)
| gnomAD v4 |
13 | g.20189186C= | CA2077139326 | GJB2 | c.396G= (p.Leu132=)
| |
13 | g.20189186C>G | CA483153982 | GJB2 | c.396G>C (p.Leu132=)
| |
13 | g.20189186C>T | CA6904273 | GJB2 | c.396G>A (p.Leu132=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189187A>C | CA387461239 | GJB2 | c.395T>G (p.Leu132Arg)
| |
13 | g.20189187A>G | CA387461240 | GJB2 | c.395T>C (p.Leu132Pro)
| |
13 | g.20189187A>T | CA387461241 | GJB2 | c.395T>A (p.Leu132Gln)
| |
13 | g.20189188G>A | CA483153983 | GJB2 | c.394C>T (p.Leu132=)
| |
13 | g.20189188G>C | CA387461242 | GJB2 | c.394C>G (p.Leu132Val)
| |
13 | g.20189188G>T | CA387461243 | GJB2 | c.394C>A (p.Leu132Met)
| |
13 | g.20189188_20189189insTGTT | CA2622252292 | GJB2 | c.393_394insAACA (p.Leu132AsnfsTer?)
| gnomAD v4 |
13 | g.20189189G>A | CA483153984 | GJB2 | c.393C>T (p.Ser131=)
| |
13 | g.20189189G>C | CA483153985 | GJB2 | c.393C>G (p.Ser131=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189189G= | CA2077139332 | GJB2 | c.393C= (p.Ser131=)
| |
13 | g.20189189G>T | CA483153986 | GJB2 | c.393C>A (p.Ser131=)
| |
13 | g.20189190G>A | CA387461244 | GJB2 | c.392C>T (p.Ser131Phe)
| |
13 | g.20189190G>C | CA387461245 | GJB2 | c.392C>G (p.Ser131Cys)
| |
13 | g.20189190G>T | CA387461246 | GJB2 | c.392C>A (p.Ser131Tyr)
| |
13 | g.20189190_20189191insGATTATAGGTATA | CA2622252293 | GJB2 | c.391_392insTATACCTATAATC (p.Ser131LeufsTer4)
| gnomAD v4 |
13 | g.20189191A>C | CA387461247 | GJB2 | c.391T>G (p.Ser131Ala)
| |
13 | g.20189191A>G | CA387461248 | GJB2 | c.391T>C (p.Ser131Pro)
| gnomAD v4 |
13 | g.20189191A>T | CA387461249 | GJB2 | c.391T>A (p.Ser131Thr)
| |
13 | g.20189192G>A | CA483153987 | GJB2 | c.390C>T (p.Gly130=)
| |
13 | g.20189192G>C | CA483153988 | GJB2 | c.390C>G (p.Gly130=)
| |
13 | g.20189192G>T | CA483153989 | GJB2 | c.390C>A (p.Gly130=)
| |
13 | g.20189193C>A | CA387461250 | GJB2 | c.389G>T (p.Gly130Val)
| |
13 | g.20189193C= | CA2077139339 | GJB2 | c.389G= (p.Gly130=)
| |
13 | g.20189193C>G | CA10576937 | GJB2 | c.389G>C (p.Gly130Ala)
| ClinVar dbSNP |
13 | g.20189193C>T | CA6904274 | GJB2 | c.389G>A (p.Gly130Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189194C>A | CA387461251 | GJB2 | c.388G>T (p.Gly130Cys)
| |
13 | g.20189194C>G | CA387461252 | GJB2 | c.388G>C (p.Gly130Arg)
| |
13 | g.20189194C>T | CA387461253 | GJB2 | c.388G>A (p.Gly130Ser)
| |
13 | g.20189195T>A | CA387461255 | GJB2 | c.387A>T (p.Glu129Asp)
| |
13 | g.20189195T>C | CA483153990 | GJB2 | c.387A>G (p.Glu129=)
| ClinVar dbSNP |
13 | g.20189195T>G | CA387461254 | GJB2 | c.387A>C (p.Glu129Asp)
| |
13 | g.20189196T>A | CA387461256 | GJB2 | c.386A>T (p.Glu129Val)
| |
13 | g.20189196T>C | CA387461258 | GJB2 | c.386A>G (p.Glu129Gly)
| |
13 | g.20189196T>G | CA387461257 | GJB2 | c.386A>C (p.Glu129Ala)
| |
13 | g.20189197C>A | CA16044153 | GJB2 | c.385G>T (p.Glu129Ter)
| ClinVar dbSNP |
13 | g.20189197C= | CA2077139348 | GJB2 | c.385G= (p.Glu129=)
| |
13 | g.20189197C>G | CA387461259 | GJB2 | c.385G>C (p.Glu129Gln)
| |
13 | g.20189197C>T | CA134970 | GJB2 | c.385G>A (p.Glu129Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189198G>A | CA134968 | GJB2 | c.384C>T (p.Ile128=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189198G>C | CA387461260 | GJB2 | c.384C>G (p.Ile128Met)
| |
13 | g.20189198G= | CA2077139353 | GJB2 | c.384C= (p.Ile128=)
| |
13 | g.20189198G>T | CA483153991 | GJB2 | c.384C>A (p.Ile128=)
| |
13 | g.20189199A>C | CA387461263 | GJB2 | c.383T>G (p.Ile128Ser)
| |
13 | g.20189199A>G | CA387461262 | GJB2 | c.383T>C (p.Ile128Thr)
| |
13 | g.20189199A>T | CA387461261 | GJB2 | c.383T>A (p.Ile128Asn)
| |
13 | g.20189199_20189205dup | CA2695217670 | GJB2 | c.377_383dup (p.Glu129ProfsTer?)
| |
13 | g.20189200T>A | CA387461264 | GJB2 | c.382A>T (p.Ile128Phe)
| |
13 | g.20189200T>C | CA387461265 | GJB2 | c.382A>G (p.Ile128Val)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189200T>G | CA387461266 | GJB2 | c.382A>C (p.Ile128Leu)
| |
13 | g.20189200T= | CA2077139357 | GJB2 | c.382A= (p.Ile128=)
| |
13 | g.20189201G>A | CA483153994 | GJB2 | c.381C>T (p.Arg127=)
| |
13 | g.20189201G>C | CA483153993 | GJB2 | c.381C>G (p.Arg127=)
| |
13 | g.20189201G= | CA2077139360 | GJB2 | c.381C= (p.Arg127=)
| |
13 | g.20189201G>T | CA483153992 | GJB2 | c.381C>A (p.Arg127=)
| dbSNP |
13 | g.20189202C>A | CA241521 | GJB2 | c.380G>T (p.Arg127Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189202C= | CA2077139366 | GJB2 | c.380G= (p.Arg127=)
| |
13 | g.20189202C>G | CA387461267 | GJB2 | c.380G>C (p.Arg127Pro)
| |
13 | g.20189202C>T | CA134966 | GJB2 | c.380G>A (p.Arg127His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189203G>A | CA176158 | GJB2 | c.379C>T (p.Arg127Cys)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189203G>C | CA246460225 | GJB2 | c.379C>G (p.Arg127Gly)
| ClinVar dbSNP |
13 | g.20189203G= | CA2077139371 | GJB2 | c.379C= (p.Arg127=)
| |
13 | g.20189203G>T | CA387461268 | GJB2 | c.379C>A (p.Arg127Ser)
| |
13 | g.20189204G>A | CA483153995 | GJB2 | c.378C>T (p.Val126=)
| gnomAD v4 |
13 | g.20189204G>C | CA483153996 | GJB2 | c.378C>G (p.Val126=)
| |
13 | g.20189204G>T | CA483153997 | GJB2 | c.378C>A (p.Val126=)
| ClinVar dbSNP |
13 | g.20189204_20189205insTCCGCAT | CA2695217671 | GJB2 | c.377_378insATGCGGA (p.Arg127CysfsTer?)
| |
13 | g.20189205A>C | CA387461269 | GJB2 | c.377T>G (p.Val126Gly)
| |
13 | g.20189205A>G | CA387461270 | GJB2 | c.377T>C (p.Val126Ala)
| gnomAD v4 |
13 | g.20189205A>T | CA387461271 | GJB2 | c.377T>A (p.Val126Asp)
| |
13 | g.20189206C>A | CA387461272 | GJB2 | c.376G>T (p.Val126Phe)
| |
13 | g.20189206C= | CA2077139375 | GJB2 | c.376G= (p.Val126=)
| |
13 | g.20189206C>G | CA387461273 | GJB2 | c.376G>C (p.Val126Leu)
| |
13 | g.20189206C>T | CA6904275 | GJB2 | c.376G>A (p.Val126Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189207C>A | CA387461274 | GJB2 | c.375G>T (p.Lys125Asn)
| |
13 | g.20189207C= | CA2077139380 | GJB2 | c.375G= (p.Lys125=)
| |
13 | g.20189207C>G | CA387461275 | GJB2 | c.375G>C (p.Lys125Asn)
| |
13 | g.20189207C>T | CA483153998 | GJB2 | c.375G>A (p.Lys125=)
| dbSNP gnomAD v4 |
13 | g.20189208T>A | CA387461276 | GJB2 | c.374A>T (p.Lys125Met)
| |
13 | g.20189208T>C | CA387461277 | GJB2 | c.374A>G (p.Lys125Arg)
| gnomAD v4 |
13 | g.20189208T>G | CA387461278 | GJB2 | c.374A>C (p.Lys125Thr)
| |
13 | g.20189209T>A | CA387461279 | GJB2 | c.373A>T (p.Lys125Ter)
| |
13 | g.20189209T>C | CA387461281 | GJB2 | c.373A>G (p.Lys125Glu)
| |
13 | g.20189209T>G | CA387461280 | GJB2 | c.373A>C (p.Lys125Gln)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189209T= | CA2077139383 | GJB2 | c.373A= (p.Lys125=)
| |
13 | g.20189210C>A | CA387461282 | GJB2 | c.372G>T (p.Gln124His)
| |
13 | g.20189210C>G | CA387461283 | GJB2 | c.372G>C (p.Gln124His)
| |
13 | g.20189210C>T | CA483153999 | GJB2 | c.372G>A (p.Gln124=)
| |
13 | g.20189211T>A | CA387461284 | GJB2 | c.371A>T (p.Gln124Leu)
| |
13 | g.20189211T>C | CA387461285 | GJB2 | c.371A>G (p.Gln124Arg)
| |
13 | g.20189211T>G | CA387461286 | GJB2 | c.371A>C (p.Gln124Pro)
| ClinVar |
13 | g.20189211_20189212delinsTG | CA2077139387 | GJB2 | c.370_371delinsCA (p.Gln124=)
| |
13 | g.20189212G>A | CA261645 | GJB2 | c.370C>T (p.Gln124Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189212G>C | CA387461287 | GJB2 | c.370C>G (p.Gln124Glu)
| |
13 | g.20189212G= | CA2077139394 | GJB2 | c.370C= (p.Gln124=)
| |
13 | g.20189212G>T | CA387461288 | GJB2 | c.370C>A (p.Gln124Lys)
| |
13 | g.20189214del | CA696362935 | GJB2 | c.370del (p.Gln124ArgfsTer?)
| dbSNP |
13 | g.20189213G>A | CA483154000 | GJB2 | c.369C>T (p.Thr123=)
| gnomAD v4 |
13 | g.20189213G>C | CA483154001 | GJB2 | c.369C>G (p.Thr123=)
| |
13 | g.20189213G>T | CA483154002 | GJB2 | c.369C>A (p.Thr123=)
| |
13 | g.20189214G>A | CA387461289 | GJB2 | c.368C>T (p.Thr123Ile)
| |
13 | g.20189214G>C | CA387461290 | GJB2 | c.368C>G (p.Thr123Ser)
| |
13 | g.20189214G= | CA2077139401 | GJB2 | c.368C= (p.Thr123=)
| |
13 | g.20189214G>T | CA134964 | GJB2 | c.368C>A (p.Thr123Asn)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189215T>A | CA387461293 | GJB2 | c.367A>T (p.Thr123Ser)
| |
13 | g.20189215T>C | CA387461292 | GJB2 | c.367A>G (p.Thr123Ala)
| |
13 | g.20189215T>G | CA387461291 | GJB2 | c.367A>C (p.Thr123Pro)
| |
13 | g.20189218del | CA2695217672 | GJB2 | c.367del (p.Thr123ProfsTer?)
| |
13 | g.20189216T>A | CA387461294 | GJB2 | c.366A>T (p.Lys122Asn)
| |
13 | g.20189216T>C | CA483154003 | GJB2 | c.366A>G (p.Lys122=)
| |
13 | g.20189216T>G | CA387461295 | GJB2 | c.366A>C (p.Lys122Asn)
| |
13 | g.20189217T>A | CA172230 | GJB2 | c.365A>T (p.Lys122Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189217T>C | CA387461296 | GJB2 | c.365A>G (p.Lys122Arg)
| |
13 | g.20189217T>G | CA246460258 | GJB2 | c.365A>C (p.Lys122Thr)
| dbSNP gnomAD v4 |
13 | g.20189217T= | CA2077139408 | GJB2 | c.365A= (p.Lys122=)
| |
13 | g.20189218T>A | CA387461297 | GJB2 | c.364A>T (p.Lys122Ter)
| |
13 | g.20189218T>C | CA387461298 | GJB2 | c.364A>G (p.Lys122Glu)
| |
13 | g.20189218T>G | CA387461299 | GJB2 | c.364A>C (p.Lys122Gln)
| |
13 | g.20189218_20189219delinsTG | CA2077139417 | GJB2 | c.363_364delinsCA (p.Ile121=)
| |
13 | g.20189219del | CA608984164 | GJB2 | c.363del (p.Thr123ProfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189219G>A | CA483154004 | GJB2 | c.363C>T (p.Ile121=)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189219G>C | CA387461300 | GJB2 | c.363C>G (p.Ile121Met)
| gnomAD v4 |
13 | g.20189219G= | CA2077139419 | GJB2 | c.363C= (p.Ile121=)
| |
13 | g.20189219G>T | CA483154005 | GJB2 | c.363C>A (p.Ile121=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189222_20189230del | CA2695217673 | GJB2 | c.355_363del (p.Glu119_Ile121del)
| |
13 | g.20189220A= | CA2077139423 | GJB2 | c.362T= (p.Ile121=)
| |
13 | g.20189220A>C | CA387461301 | GJB2 | c.362T>G (p.Ile121Ser)
| |
13 | g.20189220A>G | CA387461302 | GJB2 | c.362T>C (p.Ile121Thr)
| ClinVar dbSNP |
13 | g.20189220A>T | CA387461303 | GJB2 | c.362T>A (p.Ile121Asn)
| |
13 | g.20189221T>A | CA387461305 | GJB2 | c.361A>T (p.Ile121Phe)
| |
13 | g.20189221T>C | CA387461306 | GJB2 | c.361A>G (p.Ile121Val)
| dbSNP gnomAD v4 |
13 | g.20189221T>G | CA387461304 | GJB2 | c.361A>C (p.Ile121Leu)
| dbSNP |
13 | g.20189221T= | CA2077139429 | GJB2 | c.361A= (p.Ile121=)
| |
13 | g.20189221_20189224delinsTCTC | CA2077139427 | GJB2 | c.358_361delinsGAGA (p.Glu120=)
| |
13 | g.20189222del | CA2695217674 | GJB2 | c.360del (p.Ile121SerfsTer?)
| |
13 | g.20189222C>A | CA387461307 | GJB2 | c.360G>T (p.Glu120Asp)
| |
13 | g.20189222C>G | CA387461308 | GJB2 | c.360G>C (p.Glu120Asp)
| |
13 | g.20189222C>T | CA483154006 | GJB2 | c.360G>A (p.Glu120=)
| |
13 | g.20189225_20189227del | CA172226 | GJB2 | c.358_360del (p.Glu120del)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189223T>A | CA387461309 | GJB2 | c.359A>T (p.Glu120Val)
| |
13 | g.20189223T>C | CA387461310 | GJB2 | c.359A>G (p.Glu120Gly)
| |
13 | g.20189223T>G | CA387461311 | GJB2 | c.359A>C (p.Glu120Ala)
| |