| X | g.71224036_71224054delinsGCCATGGGGACCCCCTACA | CA2436388308 | GJB1 | c.329_347delinsGCCATGGGGACCCCCTACA (p.Gly110=)
| |
| X | g.71224039_71224056del | CA915951193 | GJB1 | c.332_349del (p.His111_His116del)
| ClinVar dbSNP |
| X | g.71224044_71224052delinsGACCCCCTA | CA2436388311 | GJB1 | c.337_345delinsGACCCCCTA (p.Asp113=)
| |
| X | g.71224045_71224052delinsTGGC | CA915951194 | GJB1 | c.338_345delinsTGGC (p.Asp113ValfsTer7)
| ClinVar dbSNP |
| X | g.71224050dup | CA16616536 | GJB1 | c.343dup (p.Leu115ProfsTer?)
| ClinVar dbSNP |
| X | g.71224049C>A | CA516820863 | GJB1 | c.342C>A (p.Pro114=)
| |
| X | g.71224049C>G | CA516820864 | GJB1 | c.342C>G (p.Pro114=)
| |
| X | g.71224049C>T | CA516820865 | GJB1 | c.342C>T (p.Pro114=)
| |
| X | g.71224050C>A | CA413501960 | GJB1 | c.343C>A (p.Leu115Ile)
| dbSNP |
| X | g.71224050C= | CA2436388314 | GJB1 | c.343C= (p.Leu115=)
| |
| X | g.71224050C>G | CA10445296 | GJB1 | c.343C>G (p.Leu115Val)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224050C>T | CA516820866 | GJB1 | c.343C>T (p.Leu115=)
| |
| X | g.71224051T>A | CA413501961 | GJB1 | c.344T>A (p.Leu115Gln)
| |
| X | g.71224051T>C | CA413501963 | GJB1 | c.344T>C (p.Leu115Pro)
| ClinVar dbSNP |
| X | g.71224051T>G | CA413501962 | GJB1 | c.344T>G (p.Leu115Arg)
| |
| X | g.71224051T= | CA2436388315 | GJB1 | c.344T= (p.Leu115=)
| |
| X | g.71224052A= | CA2436388316 | GJB1 | c.345A= (p.Leu115=)
| |
| X | g.71224052A>C | CA516820867 | GJB1 | c.345A>C (p.Leu115=)
| |
| X | g.71224052A>G | CA516820868 | GJB1 | c.345A>G (p.Leu115=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224052A>T | CA516820869 | GJB1 | c.345A>T (p.Leu115=)
| dbSNP |
| X | g.71224052dup | CA2739273576 | GJB1 | c.345dup (p.His116ThrfsTer?)
| ClinVar |
| X | g.71224053C>A | CA413501964 | GJB1 | c.346C>A (p.His116Asn)
| gnomAD v4 |
| X | g.71224053C>G | CA413501965 | GJB1 | c.346C>G (p.His116Asp)
| |
| X | g.71224053C>T | CA413501966 | GJB1 | c.346C>T (p.His116Tyr)
| |
| X | g.71224054A>C | CA413501967 | GJB1 | c.347A>C (p.His116Pro)
| |
| X | g.71224054A>G | CA413501968 | GJB1 | c.347A>G (p.His116Arg)
| |
| X | g.71224054A>T | CA413501969 | GJB1 | c.347A>T (p.His116Leu)
| |
| X | g.71224055C>A | CA413501970 | GJB1 | c.348C>A (p.His116Gln)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224055C= | CA2436388317 | GJB1 | c.348C= (p.His116=)
| |
| X | g.71224055C>G | CA413501971 | GJB1 | c.348C>G (p.His116Gln)
| |
| X | g.71224055C>T | CA516820870 | GJB1 | c.348C>T (p.His116=)
| dbSNP gnomAD v4 |
| X | g.71224056C>A | CA413501972 | GJB1 | c.349C>A (p.Leu117Met)
| dbSNP gnomAD v4 |
| X | g.71224056C= | CA2436388318 | GJB1 | c.349C= (p.Leu117=)
| |
| X | g.71224056C>G | CA413501973 | GJB1 | c.349C>G (p.Leu117Val)
| |
| X | g.71224056C>T | CA516820871 | GJB1 | c.349C>T (p.Leu117=)
| |
| X | g.71224057T>A | CA413501975 | GJB1 | c.350T>A (p.Leu117Gln)
| |
| X | g.71224057T>C | CA413501977 | GJB1 | c.350T>C (p.Leu117Pro)
| |
| X | g.71224057T>G | CA413501978 | GJB1 | c.350T>G (p.Leu117Arg)
| |
| X | g.71224058G>A | CA516820872 | GJB1 | c.351G>A (p.Leu117=)
| |
| X | g.71224058G>C | CA516820873 | GJB1 | c.351G>C (p.Leu117=)
| |
| X | g.71224058G>T | CA516820874 | GJB1 | c.351G>T (p.Leu117=)
| |
| X | g.71224059del | CA2821723721 | GJB1 | c.352del (p.Glu118ArgfsTer3)
| |
| X | g.71224059G>A | CA413501980 | GJB1 | c.352G>A (p.Glu118Lys)
| |
| X | g.71224059G>C | CA413501983 | GJB1 | c.352G>C (p.Glu118Gln)
| |
| X | g.71224059G>T | CA413501981 | GJB1 | c.352G>T (p.Glu118Ter)
| |
| X | g.71224060A>C | CA413501984 | GJB1 | c.353A>C (p.Glu118Ala)
| |
| X | g.71224060A>G | CA413501986 | GJB1 | c.353A>G (p.Glu118Gly)
| |
| X | g.71224060A>T | CA413501988 | GJB1 | c.353A>T (p.Glu118Val)
| |
| X | g.71224061G>A | CA516820875 | GJB1 | c.354G>A (p.Glu118=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224061G>C | CA413501989 | GJB1 | c.354G>C (p.Glu118Asp)
| |
| X | g.71224061G= | CA2436388319 | GJB1 | c.354G= (p.Glu118=)
| |
| X | g.71224061G>T | CA413501991 | GJB1 | c.354G>T (p.Glu118Asp)
| |
| X | g.71224062G>A | CA413501993 | GJB1 | c.355G>A (p.Glu119Lys)
| |
| X | g.71224062G>C | CA413501994 | GJB1 | c.355G>C (p.Glu119Gln)
| |
| X | g.71224062G= | CA2436388320 | GJB1 | c.355G= (p.Glu119=)
| |
| X | g.71224062G>T | CA413501996 | GJB1 | c.355G>T (p.Glu119Ter)
| ClinVar dbSNP |
| X | g.71224063A>C | CA413501998 | GJB1 | c.356A>C (p.Glu119Ala)
| |
| X | g.71224063A>G | CA413502000 | GJB1 | c.356A>G (p.Glu119Gly)
| |
| X | g.71224063A>T | CA413502001 | GJB1 | c.356A>T (p.Glu119Val)
| |
| X | g.71224063_71224066delinsAGGT | CA2436388321 | GJB1 | c.356_359delinsAGGT (p.Glu119=)
| |
| X | g.71224064G>A | CA516820876 | GJB1 | c.357G>A (p.Glu119=)
| |
| X | g.71224064G>C | CA413502005 | GJB1 | c.357G>C (p.Glu119Asp)
| |
| X | g.71224064G>T | CA413502003 | GJB1 | c.357G>T (p.Glu119Asp)
| |
| X | g.71224065_71224067del | CA915951195 | GJB1 | c.358_360del (p.Val120del)
| ClinVar dbSNP |
| X | g.71224065G>A | CA413502009 | GJB1 | c.358G>A (p.Val120Met)
| COSMIC |
| X | g.71224065G>C | CA413502012 | GJB1 | c.358G>C (p.Val120Leu)
| |
| X | g.71224065G>T | CA413502010 | GJB1 | c.358G>T (p.Val120Leu)
| |
| X | g.71224066T>A | CA413502014 | GJB1 | c.359T>A (p.Val120Glu)
| ClinVar dbSNP |
| X | g.71224066T>C | CA413502016 | GJB1 | c.359T>C (p.Val120Ala)
| gnomAD v4 |
| X | g.71224066T>G | CA330997742 | GJB1 | c.359T>G (p.Val120Gly)
| dbSNP gnomAD v4 |
| X | g.71224066T= | CA2436388322 | GJB1 | c.359T= (p.Val120=)
| |
| X | g.71224067G>A | CA10445297 | GJB1 | c.360G>A (p.Val120=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224067G>C | CA516820877 | GJB1 | c.360G>C (p.Val120=)
| |
| X | g.71224067G= | CA2436388323 | GJB1 | c.360G= (p.Val120=)
| |
| X | g.71224067G>T | CA516820878 | GJB1 | c.360G>T (p.Val120=)
| |
| X | g.71224067_71224076delinsGAAGAGGCAC | CA2436388324 | GJB1 | c.360_369delinsGAAGAGGCAC (p.Val120=)
| |
| X | g.71224068A>C | CA413502020 | GJB1 | c.361A>C (p.Lys121Gln)
| |
| X | g.71224068A>G | CA413502021 | GJB1 | c.361A>G (p.Lys121Glu)
| |
| X | g.71224068A>T | CA413502022 | GJB1 | c.361A>T (p.Lys121Ter)
| |
| X | g.71224069del | CA2524982132 | GJB1 | c.362del (p.Lys121ArgfsTer?)
| |
| X | g.71224071_71224079del | CA658659011 | GJB1 | c.364_372del (p.Arg122_Lys124del)
| ClinVar dbSNP |
| X | g.71224069A>C | CA413502024 | GJB1 | c.362A>C (p.Lys121Thr)
| |
| X | g.71224069A>G | CA413502025 | GJB1 | c.362A>G (p.Lys121Arg)
| gnomAD v4 |
| X | g.71224069A>T | CA413502027 | GJB1 | c.362A>T (p.Lys121Met)
| |
| X | g.71224070G>A | CA516820879 | GJB1 | c.363G>A (p.Lys121=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224070G>C | CA413502028 | GJB1 | c.363G>C (p.Lys121Asn)
| |
| X | g.71224070G= | CA2436388325 | GJB1 | c.363G= (p.Lys121=)
| |
| X | g.71224070G>T | CA413502030 | GJB1 | c.363G>T (p.Lys121Asn)
| |
| X | g.71224071A>C | CA516820880 | GJB1 | c.364A>C (p.Arg122=)
| ClinVar |
| X | g.71224071A>G | CA413502031 | GJB1 | c.364A>G (p.Arg122Gly)
| |
| X | g.71224071A>T | CA413502033 | GJB1 | c.364A>T (p.Arg122Trp)
| |
| X | g.71224072G>A | CA413502034 | GJB1 | c.365G>A (p.Arg122Lys)
| |
| X | g.71224072G>C | CA413502036 | GJB1 | c.365G>C (p.Arg122Thr)
| |
| X | g.71224072G>T | CA413502038 | GJB1 | c.365G>T (p.Arg122Met)
| |
| X | g.71224073G>A | CA516820881 | GJB1 | c.366G>A (p.Arg122=)
| dbSNP |
| X | g.71224073G>C | CA413502039 | GJB1 | c.366G>C (p.Arg122Ser)
| |
| X | g.71224073G= | CA2436388326 | GJB1 | c.366G= (p.Arg122=)
| |
| X | g.71224073G>T | CA413502041 | GJB1 | c.366G>T (p.Arg122Ser)
| |
| X | g.71224074C>A | CA413502043 | GJB1 | c.367C>A (p.His123Asn)
| gnomAD v4 |
| X | g.71224074C>G | CA413502045 | GJB1 | c.367C>G (p.His123Asp)
| |
| X | g.71224074C>T | CA413502046 | GJB1 | c.367C>T (p.His123Tyr)
| |
| X | g.71224075A>C | CA413502048 | GJB1 | c.368A>C (p.His123Pro)
| |
| X | g.71224075A>G | CA413502049 | GJB1 | c.368A>G (p.His123Arg)
| |
| X | g.71224075A>T | CA413502051 | GJB1 | c.368A>T (p.His123Leu)
| |
| X | g.71224076C>A | CA413502054 | GJB1 | c.369C>A (p.His123Gln)
| ClinVar |
| X | g.71224076C>G | CA413502055 | GJB1 | c.369C>G (p.His123Gln)
| |
| X | g.71224076C>T | CA516820882 | GJB1 | c.369C>T (p.His123=)
| |
| X | g.71224076_71224077delinsCA | CA2436388327 | GJB1 | c.369_370delinsCA (p.His123=)
| |
| X | g.71224077A= | CA2436388328 | GJB1 | c.370A= (p.Lys124=)
| |
| X | g.71224077A>C | CA413502060 | GJB1 | c.370A>C (p.Lys124Gln)
| |
| X | g.71224077A>G | CA413502056 | GJB1 | c.370A>G (p.Lys124Glu)
| ClinVar dbSNP |
| X | g.71224077A>T | CA413502058 | GJB1 | c.370A>T (p.Lys124Ter)
| |
| X | g.71224078del | CA915951196 | GJB1 | c.371del (p.Lys124ArgfsTer?)
| ClinVar dbSNP |
| X | g.71224078A>C | CA413502062 | GJB1 | c.371A>C (p.Lys124Thr)
| |
| X | g.71224078A>G | CA413502063 | GJB1 | c.371A>G (p.Lys124Arg)
| |
| X | g.71224078A>T | CA413502065 | GJB1 | c.371A>T (p.Lys124Met)
| |
| X | g.71224078_71224084delinsTCTTCACCT | CA2739273577 | GJB1 | c.371_377delinsTCTTCACCT (p.Lys124IlefsTer?)
| ClinVar |
| X | g.71224079G>A | CA516820883 | GJB1 | c.372G>A (p.Lys124=)
| dbSNP |
| X | g.71224079G>C | CA10577658 | GJB1 | c.372G>C (p.Lys124Asn)
| ClinVar dbSNP |
| X | g.71224079G= | CA2436388329 | GJB1 | c.372G= (p.Lys124=)
| |
| X | g.71224079G>T | CA413502068 | GJB1 | c.372G>T (p.Lys124Asn)
| ClinVar |
| X | g.71224080G>A | CA413502072 | GJB1 | c.373G>A (p.Val125Ile)
| |
| X | g.71224080G>C | CA413502070 | GJB1 | c.373G>C (p.Val125Leu)
| |
| X | g.71224080G>T | CA413502069 | GJB1 | c.373G>T (p.Val125Phe)
| |
| X | g.71224081T>A | CA413502074 | GJB1 | c.374T>A (p.Val125Asp)
| ClinVar dbSNP |
| X | g.71224081T>C | CA413502075 | GJB1 | c.374T>C (p.Val125Ala)
| |
| X | g.71224081T>G | CA413502077 | GJB1 | c.374T>G (p.Val125Gly)
| ClinVar dbSNP |
| X | g.71224081T= | CA2436388330 | GJB1 | c.374T= (p.Val125=)
| |
| X | g.71224082C>A | CA516820884 | GJB1 | c.375C>A (p.Val125=)
| |
| X | g.71224082C= | CA2436388331 | GJB1 | c.375C= (p.Val125=)
| |
| X | g.71224082C>G | CA516820885 | GJB1 | c.375C>G (p.Val125=)
| gnomAD v4 |
| X | g.71224082C>T | CA516820886 | GJB1 | c.375C>T (p.Val125=)
| ClinVar dbSNP |
| X | g.71224082_71224083insAC | CA2499226844 | GJB1 | c.375_376insAC (p.His126ThrfsTer?)
| dbSNP |
| X | g.71224083C>A | CA413502079 | GJB1 | c.376C>A (p.His126Asn)
| |
| X | g.71224083C= | CA2436388332 | GJB1 | c.376C= (p.His126=)
| |
| X | g.71224083C>G | CA413502081 | GJB1 | c.376C>G (p.His126Asp)
| |
| X | g.71224083C>T | CA10584639 | GJB1 | c.376C>T (p.His126Tyr)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224084A>C | CA413502086 | GJB1 | c.377A>C (p.His126Pro)
| |
| X | g.71224084A>G | CA413502082 | GJB1 | c.377A>G (p.His126Arg)
| |
| X | g.71224084A>T | CA413502084 | GJB1 | c.377A>T (p.His126Leu)
| |
| X | g.71224085C>A | CA413502088 | GJB1 | c.378C>A (p.His126Gln)
| |
| X | g.71224085C>G | CA413502089 | GJB1 | c.378C>G (p.His126Gln)
| |
| X | g.71224085C>T | CA516820887 | GJB1 | c.378C>T (p.His126=)
| ClinVar dbSNP |
| X | g.71224086A= | CA2436388333 | GJB1 | c.379A= (p.Ile127=)
| |
| X | g.71224086A>C | CA413502090 | GJB1 | c.379A>C (p.Ile127Leu)
| |
| X | g.71224086A>G | CA413502092 | GJB1 | c.379A>G (p.Ile127Val)
| |
| X | g.71224086A>T | CA413502094 | GJB1 | c.379A>T (p.Ile127Phe)
| ClinVar dbSNP |
| X | g.71224087T>A | CA413502095 | GJB1 | c.380T>A (p.Ile127Asn)
| ClinVar dbSNP |
| X | g.71224087T>C | CA413502096 | GJB1 | c.380T>C (p.Ile127Thr)
| |
| X | g.71224087T>G | CA413502098 | GJB1 | c.380T>G (p.Ile127Ser)
| ClinVar dbSNP |
| X | g.71224087T= | CA2436388334 | GJB1 | c.380T= (p.Ile127=)
| |
| X | g.71224088C>A | CA516820888 | GJB1 | c.381C>A (p.Ile127=)
| |
| X | g.71224088C= | CA2436388335 | GJB1 | c.381C= (p.Ile127=)
| |
| X | g.71224088C>G | CA413502100 | GJB1 | c.381C>G (p.Ile127Met)
| ClinVar dbSNP |
| X | g.71224088C>T | CA516820889 | GJB1 | c.381C>T (p.Ile127=)
| |
| X | g.71224089T>A | CA413502102 | GJB1 | c.382T>A (p.Ser128Thr)
| |
| X | g.71224089T>C | CA413502103 | GJB1 | c.382T>C (p.Ser128Pro)
| ClinVar dbSNP |
| X | g.71224089T>G | CA413502104 | GJB1 | c.382T>G (p.Ser128Ala)
| |
| X | g.71224089T= | CA2436388336 | GJB1 | c.382T= (p.Ser128=)
| |
| X | g.71224090C>A | CA413502105 | GJB1 | c.383C>A (p.Ser128Ter)
| ClinVar dbSNP |
| X | g.71224090C= | CA2436388337 | GJB1 | c.383C= (p.Ser128=)
| |
| X | g.71224090C>G | CA413502108 | GJB1 | c.383C>G (p.Ser128Ter)
| ClinVar dbSNP |
| X | g.71224090C>T | CA413502106 | GJB1 | c.383C>T (p.Ser128Leu)
| ClinVar dbSNP |
| X | g.71224091A= | CA2436388338 | GJB1 | c.384A= (p.Ser128=)
| |
| X | g.71224091A>C | CA516820891 | GJB1 | c.384A>C (p.Ser128=)
| |
| X | g.71224091A>G | CA10445298 | GJB1 | c.384A>G (p.Ser128=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224091A>T | CA516820890 | GJB1 | c.384A>T (p.Ser128=)
| |
| X | g.71224092G>A | CA413502113 | GJB1 | c.385G>A (p.Gly129Arg)
| |
| X | g.71224092G>C | CA413502110 | GJB1 | c.385G>C (p.Gly129Arg)
| |
| X | g.71224092G>T | CA413502111 | GJB1 | c.385G>T (p.Gly129Trp)
| |
| X | g.71224093G>A | CA413502116 | GJB1 | c.386G>A (p.Gly129Glu)
| ClinVar dbSNP |
| X | g.71224093G>C | CA413502118 | GJB1 | c.386G>C (p.Gly129Ala)
| |
| X | g.71224093G= | CA2436388339 | GJB1 | c.386G= (p.Gly129=)
| |
| X | g.71224093G>T | CA413502119 | GJB1 | c.386G>T (p.Gly129Val)
| |
| X | g.71224094G>A | CA516820894 | GJB1 | c.387G>A (p.Gly129=)
| |
| X | g.71224094G>C | CA516820893 | GJB1 | c.387G>C (p.Gly129=)
| |
| X | g.71224094G>T | CA516820892 | GJB1 | c.387G>T (p.Gly129=)
| gnomAD v4 |
| X | g.71224095A>C | CA413502121 | GJB1 | c.388A>C (p.Thr130Pro)
| |
| X | g.71224095A>G | CA413502122 | GJB1 | c.388A>G (p.Thr130Ala)
| ClinVar |
| X | g.71224095A>T | CA413502125 | GJB1 | c.388A>T (p.Thr130Ser)
| |
| X | g.71224096C>A | CA413502127 | GJB1 | c.389C>A (p.Thr130Lys)
| |
| X | g.71224096C= | CA2436388340 | GJB1 | c.389C= (p.Thr130=)
| |
| X | g.71224096C>G | CA413502129 | GJB1 | c.389C>G (p.Thr130Arg)
| |
| X | g.71224096C>T | CA413502132 | GJB1 | c.389C>T (p.Thr130Ile)
| ClinVar dbSNP |
| X | g.71224097A>C | CA516820895 | GJB1 | c.390A>C (p.Thr130=)
| |
| X | g.71224097A>G | CA516820897 | GJB1 | c.390A>G (p.Thr130=)
| |
| X | g.71224097A>T | CA516820896 | GJB1 | c.390A>T (p.Thr130=)
| |
| X | g.71224098C>A | CA413502136 | GJB1 | c.391C>A (p.Leu131Met)
| |
| X | g.71224098C>G | CA413502138 | GJB1 | c.391C>G (p.Leu131Val)
| ClinVar dbSNP |
| X | g.71224098C>T | CA516820898 | GJB1 | c.391C>T (p.Leu131=)
| gnomAD v4 |
| X | g.71224098_71224100delinsCTG | CA2436388341 | GJB1 | c.391_393delinsCTG (p.Leu131=)
| |
| X | g.71224099T>A | CA413502150 | GJB1 | c.392T>A (p.Leu131Gln)
| |
| X | g.71224099T>C | CA413502149 | GJB1 | c.392T>C (p.Leu131Pro)
| ClinVar dbSNP |
| X | g.71224099T>G | CA413502146 | GJB1 | c.392T>G (p.Leu131Arg)
| ClinVar dbSNP |
| X | g.71224099T= | CA2436388342 | GJB1 | c.392T= (p.Leu131=)
| |
| X | g.71224101_71224102del | CA658799793 | GJB1 | c.394_395del (p.Trp132ValfsTer14)
| ClinVar dbSNP |
| X | g.71224100G>A | CA516820899 | GJB1 | c.393G>A (p.Leu131=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224100G>C | CA516820900 | GJB1 | c.393G>C (p.Leu131=)
| |
| X | g.71224100G= | CA2436388343 | GJB1 | c.393G= (p.Leu131=)
| |
| X | g.71224100G>T | CA516820901 | GJB1 | c.393G>T (p.Leu131=)
| |
| X | g.71224101T>A | CA413502153 | GJB1 | c.394T>A (p.Trp132Arg)
| |
| X | g.71224101T>C | CA413502154 | GJB1 | c.394T>C (p.Trp132Arg)
| ClinVar dbSNP |
| X | g.71224101T>G | CA413502157 | GJB1 | c.394T>G (p.Trp132Gly)
| ClinVar dbSNP |
| X | g.71224101T= | CA2436388345 | GJB1 | c.394T= (p.Trp132=)
| |
| X | g.71224101_71224102delinsTG | CA2436388344 | GJB1 | c.394_395delinsTG (p.Trp132=)
| |
| X | g.71224102G>A | CA413502158 | GJB1 | c.395G>A (p.Trp132Ter)
| ClinVar dbSNP |
| X | g.71224102G>C | CA413502160 | GJB1 | c.395G>C (p.Trp132Ser)
| |
| X | g.71224102G>T | CA413502162 | GJB1 | c.395G>T (p.Trp132Leu)
| |
| X | g.71224103del | CA10584640 | GJB1 | c.396del (p.Trp132CysfsTer?)
| ClinVar dbSNP |
| X | g.71224103G>A | CA413502168 | GJB1 | c.396G>A (p.Trp132Ter)
| ClinVar dbSNP |
| X | g.71224103G>C | CA413502169 | GJB1 | c.396G>C (p.Trp132Cys)
| |
| X | g.71224103G= | CA2436388346 | GJB1 | c.396G= (p.Trp132=)
| |
| X | g.71224103G>T | CA413502172 | GJB1 | c.396G>T (p.Trp132Cys)
| |
| X | g.71224103_71224104delinsGT | CA2436388347 | GJB1 | c.396_397delinsGT (p.Trp132=)
| |
| X | g.71224104del | CA915951197 | GJB1 | c.397del (p.Trp133GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224104T>A | CA413502175 | GJB1 | c.397T>A (p.Trp133Arg)
| |
| X | g.71224104T>C | CA255235 | GJB1 | c.397T>C (p.Trp133Arg)
| ClinVar dbSNP |
| X | g.71224104T>G | CA413502180 | GJB1 | c.397T>G (p.Trp133Gly)
| |
| X | g.71224104T= | CA2436388348 | GJB1 | c.397T= (p.Trp133=)
| |
| X | g.71224105G>A | CA413502186 | GJB1 | c.398G>A (p.Trp133Ter)
| COSMIC |
| X | g.71224105G>C | CA413502188 | GJB1 | c.398G>C (p.Trp133Ser)
| |
| X | g.71224105G>T | CA413502183 | GJB1 | c.398G>T (p.Trp133Leu)
| |
| X | g.71224106G>A | CA413502190 | GJB1 | c.399G>A (p.Trp133Ter)
| ClinVar dbSNP |
| X | g.71224106G>C | CA413502191 | GJB1 | c.399G>C (p.Trp133Cys)
| |
| X | g.71224106G= | CA2436388349 | GJB1 | c.399G= (p.Trp133=)
| |
| X | g.71224106G>T | CA413502192 | GJB1 | c.399G>T (p.Trp133Cys)
| ClinVar dbSNP |
| X | g.71224107A>C | CA413502195 | GJB1 | c.400A>C (p.Thr134Pro)
| |
| X | g.71224107A>G | CA413502198 | GJB1 | c.400A>G (p.Thr134Ala)
| |
| X | g.71224107A>T | CA413502200 | GJB1 | c.400A>T (p.Thr134Ser)
| |
| X | g.71224108C>A | CA413502203 | GJB1 | c.401C>A (p.Thr134Asn)
| |
| X | g.71224108C>G | CA413502206 | GJB1 | c.401C>G (p.Thr134Ser)
| |
| X | g.71224108C>T | CA413502213 | GJB1 | c.401C>T (p.Thr134Ile)
| |
| X | g.71224109del | CA2695234564 | GJB1 | c.402del (p.Tyr135MetfsTer?)
| |
| X | g.71224109C>A | CA516820902 | GJB1 | c.402C>A (p.Thr134=)
| gnomAD v4 |
| X | g.71224109C= | CA2436388350 | GJB1 | c.402C= (p.Thr134=)
| |
| X | g.71224109C>G | CA516820903 | GJB1 | c.402C>G (p.Thr134=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224109C>T | CA516820904 | GJB1 | c.402C>T (p.Thr134=)
| |
| X | g.71224110T>A | CA413502220 | GJB1 | c.403T>A (p.Tyr135Asn)
| |
| X | g.71224110T>C | CA413502223 | GJB1 | c.403T>C (p.Tyr135His)
| |
| X | g.71224110T>G | CA413502226 | GJB1 | c.403T>G (p.Tyr135Asp)
| |
| X | g.71224110dup | CA2695234566 | GJB1 | c.403dup (p.Tyr135LeufsTer12)
| |
| X | g.71224111_71224112del | CA2695234565 | GJB1 | c.404_405del (p.Tyr135CysfsTer11)
| |
| X | g.71224111A= | CA2436388351 | GJB1 | c.404A= (p.Tyr135=)
| |
| X | g.71224111A>C | CA413502233 | GJB1 | c.404A>C (p.Tyr135Ser)
| |
| X | g.71224111A>G | CA413502229 | GJB1 | c.404A>G (p.Tyr135Cys)
| ClinVar dbSNP |
| X | g.71224111A>T | CA413502231 | GJB1 | c.404A>T (p.Tyr135Phe)
| |
| X | g.71224112T>A | CA413502237 | GJB1 | c.405T>A (p.Tyr135Ter)
| |
| X | g.71224112T>C | CA516820905 | GJB1 | c.405T>C (p.Tyr135=)
| ClinVar |
| X | g.71224112T>G | CA413502239 | GJB1 | c.405T>G (p.Tyr135Ter)
| |
| X | g.71224113_71224114dup | CA2580612285 | GJB1 | c.406_407dup (p.Ile137SerfsTer?)
| ClinVar |
| X | g.71224113G>A | CA413502242 | GJB1 | c.406G>A (p.Val136Ile)
| |
| X | g.71224113G>C | CA413502245 | GJB1 | c.406G>C (p.Val136Leu)
| |
| X | g.71224113G>T | CA413502247 | GJB1 | c.406G>T (p.Val136Phe)
| COSMIC |
| X | g.71224114T>A | CA413502249 | GJB1 | c.407T>A (p.Val136Asp)
| |
| X | g.71224114T>C | CA121071 | GJB1 | c.407T>C (p.Val136Ala)
| ClinVar dbSNP |
| X | g.71224114T>G | CA413502257 | GJB1 | c.407T>G (p.Val136Gly)
| |
| X | g.71224114T= | CA2436388352 | GJB1 | c.407T= (p.Val136=)
| |
| X | g.71224115C>A | CA516820906 | GJB1 | c.408C>A (p.Val136=)
| |
| X | g.71224115C>G | CA516820907 | GJB1 | c.408C>G (p.Val136=)
| |
| X | g.71224115C>T | CA516820908 | GJB1 | c.408C>T (p.Val136=)
| gnomAD v4 |
| X | g.71224116A>C | CA413502260 | GJB1 | c.409A>C (p.Ile137Leu)
| |
| X | g.71224116A>G | CA413502262 | GJB1 | c.409A>G (p.Ile137Val)
| ClinVar |
| X | g.71224116A>T | CA413502268 | GJB1 | c.409A>T (p.Ile137Phe)
| |
| X | g.71224116_71224117delinsAT | CA2436388353 | GJB1 | c.409_410delinsAT (p.Ile137=)
| |
| X | g.71224117del | CA915951198 | GJB1 | c.410del (p.Ile137ThrfsTer?)
| ClinVar dbSNP |
| X | g.71224117T>A | CA413502277 | GJB1 | c.410T>A (p.Ile137Asn)
| |
| X | g.71224117T>C | CA413502279 | GJB1 | c.410T>C (p.Ile137Thr)
| |
| X | g.71224117T>G | CA413502276 | GJB1 | c.410T>G (p.Ile137Ser)
| |
| X | g.71224118C>A | CA516820909 | GJB1 | c.411C>A (p.Ile137=)
| |
| X | g.71224118C>G | CA413502282 | GJB1 | c.411C>G (p.Ile137Met)
| |
| X | g.71224118C>T | CA516820910 | GJB1 | c.411C>T (p.Ile137=)
| |
| X | g.71224119A>C | CA413502284 | GJB1 | c.412A>C (p.Ser138Arg)
| |
| X | g.71224119A>G | CA413502285 | GJB1 | c.412A>G (p.Ser138Gly)
| ClinVar |
| X | g.71224119A>T | CA413502288 | GJB1 | c.412A>T (p.Ser138Cys)
| |
| X | g.71224120G>A | CA413502291 | GJB1 | c.413G>A (p.Ser138Asn)
| ClinVar dbSNP |
| X | g.71224120G>C | CA413502293 | GJB1 | c.413G>C (p.Ser138Thr)
| ClinVar |
| X | g.71224120G= | CA2436388354 | GJB1 | c.413G= (p.Ser138=)
| |
| X | g.71224120G>T | CA413502294 | GJB1 | c.413G>T (p.Ser138Ile)
| dbSNP |
| X | g.71224121C>A | CA413502297 | GJB1 | c.414C>A (p.Ser138Arg)
| |
| X | g.71224121C= | CA2436388355 | GJB1 | c.414C= (p.Ser138=)
| |
| X | g.71224121C>G | CA413502296 | GJB1 | c.414C>G (p.Ser138Arg)
| |
| X | g.71224121C>T | CA516820911 | GJB1 | c.414C>T (p.Ser138=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224122G>A | CA340967 | GJB1 | c.415G>A (p.Val139Met)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224122G>C | CA413502302 | GJB1 | c.415G>C (p.Val139Leu)
| |
| X | g.71224122G= | CA2436388356 | GJB1 | c.415G= (p.Val139=)
| |
| X | g.71224122G>T | CA413502309 | GJB1 | c.415G>T (p.Val139Leu)
| |
| X | g.71224123T>A | CA413502312 | GJB1 | c.416T>A (p.Val139Glu)
| |
| X | g.71224123T>C | CA413502313 | GJB1 | c.416T>C (p.Val139Ala)
| |
| X | g.71224123T>G | CA413502316 | GJB1 | c.416T>G (p.Val139Gly)
| ClinVar dbSNP |
| X | g.71224124G>A | CA516820912 | GJB1 | c.417G>A (p.Val139=)
| |
| X | g.71224124G>C | CA516820913 | GJB1 | c.417G>C (p.Val139=)
| |
| X | g.71224124G>T | CA516820914 | GJB1 | c.417G>T (p.Val139=)
| |
| X | g.71224125G>A | CA413502319 | GJB1 | c.418G>A (p.Val140Met)
| |
| X | g.71224125G>C | CA413502321 | GJB1 | c.418G>C (p.Val140Leu)
| |
| X | g.71224125G>T | CA413502320 | GJB1 | c.418G>T (p.Val140Leu)
| |
| X | g.71224126T>A | CA413502324 | GJB1 | c.419T>A (p.Val140Glu)
| ClinVar dbSNP |
| X | g.71224126T>C | CA330997756 | GJB1 | c.419T>C (p.Val140Ala)
| dbSNP |
| X | g.71224126T>G | CA413502328 | GJB1 | c.419T>G (p.Val140Gly)
| |
| X | g.71224126T= | CA2436388357 | GJB1 | c.419T= (p.Val140=)
| |
| X | g.71224127G>A | CA516820915 | GJB1 | c.420G>A (p.Val140=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224127G>C | CA516820916 | GJB1 | c.420G>C (p.Val140=)
| |
| X | g.71224127G>T | CA516820917 | GJB1 | c.420G>T (p.Val140=)
| |
| X | g.71224128T>A | CA413502333 | GJB1 | c.421T>A (p.Phe141Ile)
| |
| X | g.71224128T>C | CA413502334 | GJB1 | c.421T>C (p.Phe141Leu)
| |
| X | g.71224128T>G | CA413502336 | GJB1 | c.421T>G (p.Phe141Val)
| |
| X | g.71224129T>A | CA413502338 | GJB1 | c.422T>A (p.Phe141Tyr)
| |
| X | g.71224129T>C | CA413502340 | GJB1 | c.422T>C (p.Phe141Ser)
| |
| X | g.71224129T>G | CA413502343 | GJB1 | c.422T>G (p.Phe141Cys)
| |
| X | g.71224129_71224130delinsTC | CA2436388358 | GJB1 | c.422_423delinsTC (p.Phe141=)
| |
| X | g.71224130C>A | CA413502345 | GJB1 | c.423C>A (p.Phe141Leu)
| |
| X | g.71224130C= | CA2436388359 | GJB1 | c.423C= (p.Phe141=)
| |
| X | g.71224130C>G | CA413502347 | GJB1 | c.423C>G (p.Phe141Leu)
| ClinVar dbSNP |
| X | g.71224130C>T | CA516820918 | GJB1 | c.423C>T (p.Phe141=)
| ClinVar |
| X | g.71224131del | CA915951199 | GJB1 | c.424del (p.Arg142GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224131C>A | CA516820919 | GJB1 | c.424C>A (p.Arg142=)
| |
| X | g.71224131C= | CA2436388360 | GJB1 | c.424C= (p.Arg142=)
| |
| X | g.71224131C>G | CA413502350 | GJB1 | c.424C>G (p.Arg142Gly)
| |
| X | g.71224131C>T | CA255229 | GJB1 | c.424C>T (p.Arg142Trp)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224132G>A | CA334230 | GJB1 | c.425G>A (p.Arg142Gln)
| ClinVar dbSNP |
| X | g.71224132G>C | CA413502354 | GJB1 | c.425G>C (p.Arg142Pro)
| |
| X | g.71224132G= | CA2436388361 | GJB1 | c.425G= (p.Arg142=)
| |
| X | g.71224132G>T | CA413502356 | GJB1 | c.425G>T (p.Arg142Leu)
| |
| X | g.71224133G>A | CA516820923 | GJB1 | c.426G>A (p.Arg142=)
| |
| X | g.71224133G>C | CA516820924 | GJB1 | c.426G>C (p.Arg142=)
| |
| X | g.71224133G>T | CA516820922 | GJB1 | c.426G>T (p.Arg142=)
| |
| X | g.71224134C>A | CA413502359 | GJB1 | c.427C>A (p.Leu143Met)
| |
| X | g.71224134C>G | CA413502362 | GJB1 | c.427C>G (p.Leu143Val)
| |
| X | g.71224134C>T | CA516820925 | GJB1 | c.427C>T (p.Leu143=)
| |
| X | g.71224134_71224137delinsCTGT | CA2436388362 | GJB1 | c.427_430delinsCTGT (p.Leu143=)
| |
| X | g.71224135T>A | CA413502366 | GJB1 | c.428T>A (p.Leu143Gln)
| |
| X | g.71224135T>C | CA413502367 | GJB1 | c.428T>C (p.Leu143Pro)
| ClinVar dbSNP |
| X | g.71224135T>G | CA413502371 | GJB1 | c.428T>G (p.Leu143Arg)
| ClinVar |
| X | g.71224135T= | CA2436388363 | GJB1 | c.428T= (p.Leu143=)
| |
| X | g.71224139_71224141del | CA915951200 | GJB1 | c.432_434del (p.Leu144del)
| ClinVar dbSNP |
| X | g.71224136G>A | CA516820931 | GJB1 | c.429G>A (p.Leu143=)
| gnomAD v4 |
| X | g.71224136G>C | CA516820928 | GJB1 | c.429G>C (p.Leu143=)
| |
| X | g.71224136G>T | CA516820930 | GJB1 | c.429G>T (p.Leu143=)
| |
| X | g.71224137T>A | CA413502373 | GJB1 | c.430T>A (p.Leu144Met)
| |
| X | g.71224137T>C | CA516820932 | GJB1 | c.430T>C (p.Leu144=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224137T>G | CA413502380 | GJB1 | c.430T>G (p.Leu144Val)
| |
| X | g.71224137T= | CA2436388364 | GJB1 | c.430T= (p.Leu144=)
| |
| X | g.71224138T>A | CA413502384 | GJB1 | c.431T>A (p.Leu144Ter)
| |
| X | g.71224138T>C | CA413502386 | GJB1 | c.431T>C (p.Leu144Ser)
| |
| X | g.71224138T>G | CA413502388 | GJB1 | c.431T>G (p.Leu144Trp)
| |
| X | g.71224139G>A | CA516820933 | GJB1 | c.432G>A (p.Leu144=)
| |
| X | g.71224139G>C | CA413502390 | GJB1 | c.432G>C (p.Leu144Phe)
| |
| X | g.71224139G>T | CA413502393 | GJB1 | c.432G>T (p.Leu144Phe)
| |
| X | g.71224140T>A | CA413502397 | GJB1 | c.433T>A (p.Phe145Ile)
| |
| X | g.71224140T>C | CA413502399 | GJB1 | c.433T>C (p.Phe145Leu)
| |
| X | g.71224140T>G | CA413502398 | GJB1 | c.433T>G (p.Phe145Val)
| |
| X | g.71224142del | CA2697553167 | GJB1 | c.435del (p.Phe145LeufsTer?)
| ClinVar |
| X | g.71224141T>A | CA413502402 | GJB1 | c.434T>A (p.Phe145Tyr)
| |
| X | g.71224141T>C | CA413502405 | GJB1 | c.434T>C (p.Phe145Ser)
| |
| X | g.71224141T>G | CA413502407 | GJB1 | c.434T>G (p.Phe145Cys)
| ClinVar dbSNP |
| X | g.71224141T= | CA2436388365 | GJB1 | c.434T= (p.Phe145=)
| |
| X | g.71224142T>A | CA413502410 | GJB1 | c.435T>A (p.Phe145Leu)
| |
| X | g.71224142T>C | CA516820936 | GJB1 | c.435T>C (p.Phe145=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224142T>G | CA413502413 | GJB1 | c.435T>G (p.Phe145Leu)
| |
| X | g.71224142T= | CA2436388366 | GJB1 | c.435T= (p.Phe145=)
| |
| X | g.71224143G>A | CA413502415 | GJB1 | c.436G>A (p.Glu146Lys)
| ClinVar dbSNP |
| X | g.71224143G>C | CA413502418 | GJB1 | c.436G>C (p.Glu146Gln)
| ClinVar dbSNP |
| X | g.71224143G= | CA2436388367 | GJB1 | c.436G= (p.Glu146=)
| |
| X | g.71224143G>T | CA413502420 | GJB1 | c.436G>T (p.Glu146Ter)
| |
| X | g.71224143_71224144delinsAT | CA915951201 | GJB1 | c.436_437delinsAT (p.Glu146Met)
| ClinVar dbSNP |
| X | g.71224143_71224144delinsGA | CA2436388368 | GJB1 | c.436_437delinsGA (p.Glu146=)
| |
| X | g.71224144A= | CA2436388369 | GJB1 | c.437A= (p.Glu146=)
| |
| X | g.71224144A>C | CA413502423 | GJB1 | c.437A>C (p.Glu146Ala)
| ClinVar dbSNP |
| X | g.71224144A>G | CA413502428 | GJB1 | c.437A>G (p.Glu146Gly)
| |
| X | g.71224144A>T | CA413502430 | GJB1 | c.437A>T (p.Glu146Val)
| |
| X | g.71224144_71224145delinsAG | CA2436388370 | GJB1 | c.437_438delinsAG (p.Glu146=)
| |
| X | g.71224145G>A | CA10445299 | GJB1 | c.438G>A (p.Glu146=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224145G>C | CA413502433 | GJB1 | c.438G>C (p.Glu146Asp)
| |
| X | g.71224145G= | CA2436388371 | GJB1 | c.438G= (p.Glu146=)
| |
| X | g.71224145G>T | CA413502431 | GJB1 | c.438G>T (p.Glu146Asp)
| |
| X | g.71224146del | CA915951202 | GJB1 | c.439del (p.Ala147ProfsTer?)
| ClinVar dbSNP |
| X | g.71224146G>A | CA10584641 | GJB1 | c.439G>A (p.Ala147Thr)
| ClinVar dbSNP |
| X | g.71224146G>C | CA413502447 | GJB1 | c.439G>C (p.Ala147Pro)
| |
| X | g.71224146G= | CA2436388372 | GJB1 | c.439G= (p.Ala147=)
| |
| X | g.71224146G>T | CA10445300 | GJB1 | c.439G>T (p.Ala147Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224147C>A | CA413502456 | GJB1 | c.440C>A (p.Ala147Asp)
| ClinVar dbSNP |
| X | g.71224147C= | CA2436388373 | GJB1 | c.440C= (p.Ala147=)
| |
| X | g.71224147C>G | CA413502461 | GJB1 | c.440C>G (p.Ala147Gly)
| |
| X | g.71224147C>T | CA413502458 | GJB1 | c.440C>T (p.Ala147Val)
| |
| X | g.71224148C>A | CA516820941 | GJB1 | c.441C>A (p.Ala147=)
| dbSNP gnomAD v2 |
| X | g.71224148C= | CA2436388374 | GJB1 | c.441C= (p.Ala147=)
| |
| X | g.71224148C>G | CA516820942 | GJB1 | c.441C>G (p.Ala147=)
| |
| X | g.71224148C>T | CA10445301 | GJB1 | c.441C>T (p.Ala147=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224149G>A | CA10445302 | GJB1 | c.442G>A (p.Val148Ile)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71224149G>C | CA413502467 | GJB1 | c.442G>C (p.Val148Leu)
| |
| X | g.71224149G= | CA2436388376 | GJB1 | c.442G= (p.Val148=)
| |
| X | g.71224149G>T | CA413502470 | GJB1 | c.442G>T (p.Val148Phe)
| |
| X | g.71224149_71224153delinsGTCTT | CA2436388375 | GJB1 | c.442_446delinsGTCTT (p.Val148=)
| |
