13 | g.20189178_20189181delinsGTCC | CA2077139298 | GJB2 | c.401_404delinsGGAC (p.Trp134=)
| |
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)
| |
13 | g.20189224C>A | CA387461312 | GJB2 | c.358G>T (p.Glu120Ter)
| |
13 | g.20189224C= | CA2077139436 | GJB2 | c.358G= (p.Glu120=)
| |
13 | g.20189224C>G | CA387461313 | GJB2 | c.358G>C (p.Glu120Gln)
| |
13 | g.20189224C>T | CA6904276 | GJB2 | c.358G>A (p.Glu120Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189224_20189226delinsCCT | CA2077139438 | GJB2 | c.356_358delinsAGG (p.Glu119=)
| |
13 | g.20189225C>A | CA387461314 | GJB2 | c.357G>T (p.Glu119Asp)
| |
13 | g.20189225C>G | CA387461315 | GJB2 | c.357G>C (p.Glu119Asp)
| |
13 | g.20189225C>T | CA483154007 | GJB2 | c.357G>A (p.Glu119=)
| COSMIC |
13 | g.20189226_20189227del | CA2077139441 | GJB2 | c.356_357del (p.Glu119GlyfsTer?)
| dbSNP |
13 | g.20189226T>A | CA387461316 | GJB2 | c.356A>T (p.Glu119Val)
| |
13 | g.20189226T>C | CA387461317 | GJB2 | c.356A>G (p.Glu119Gly)
| |
13 | g.20189226T>G | CA387461318 | GJB2 | c.356A>C (p.Glu119Ala)
| |
13 | g.20189227_20189230dup | CA2695217675 | GJB2 | c.353_356dup (p.Glu119AspfsTer?)
| ClinVar |
13 | g.20189227del | CA2842434866 | GJB2 | c.355del (p.Glu119ArgfsTer?)
| |
13 | g.20189227C>A | CA387461319 | GJB2 | c.355G>T (p.Glu119Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189227C= | CA2077139448 | GJB2 | c.355G= (p.Glu119=)
| |
13 | g.20189227C>G | CA387461320 | GJB2 | c.355G>C (p.Glu119Gln)
| |
13 | g.20189227C>T | CA273833 | GJB2 | c.355G>A (p.Glu119Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189228G>A | CA483154008 | GJB2 | c.354C>T (p.Ile118=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189228G>C | CA387461321 | GJB2 | c.354C>G (p.Ile118Met)
| gnomAD v4 |
13 | g.20189228G= | CA2077139451 | GJB2 | c.354C= (p.Ile118=)
| |
13 | g.20189228G>T | CA483154009 | GJB2 | c.354C>A (p.Ile118=)
| |
13 | g.20189229A= | CA2077139452 | GJB2 | c.353T= (p.Ile118=)
| |
13 | g.20189229A>C | CA387461322 | GJB2 | c.353T>G (p.Ile118Ser)
| |
13 | g.20189229A>G | CA6904277 | GJB2 | c.353T>C (p.Ile118Thr)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189229A>T | CA387461323 | GJB2 | c.353T>A (p.Ile118Asn)
| |
13 | g.20189229_20189233del | CA2838896689 | GJB2 | c.349_353del (p.Asp117ArgfsTer?)
| |
13 | g.20189230T>A | CA387461324 | GJB2 | c.352A>T (p.Ile118Phe)
| |
13 | g.20189230T>C | CA387461325 | GJB2 | c.352A>G (p.Ile118Val)
| gnomAD v4 |
13 | g.20189230T>G | CA387461326 | GJB2 | c.352A>C (p.Ile118Leu)
| |
13 | g.20189231G>A | CA483154010 | GJB2 | c.351C>T (p.Asp117=)
| ClinVar |
13 | g.20189231G>C | CA387461327 | GJB2 | c.351C>G (p.Asp117Glu)
| |
13 | g.20189231G>T | CA387461328 | GJB2 | c.351C>A (p.Asp117Glu)
| |
13 | g.20189232T>A | CA6904278 | GJB2 | c.350A>T (p.Asp117Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189232T>C | CA134962 | GJB2 | c.350A>G (p.Asp117Gly)
| ClinVar dbSNP |
13 | g.20189232T>G | CA387461329 | GJB2 | c.350A>C (p.Asp117Ala)
| |
13 | g.20189232T= | CA2077139453 | GJB2 | c.350A= (p.Asp117=)
| |
13 | g.20189233C>A | CA387461330 | GJB2 | c.349G>T (p.Asp117Tyr)
| ClinVar dbSNP |
13 | g.20189233C>G | CA387461332 | GJB2 | c.349G>C (p.Asp117His)
| |
13 | g.20189233C>T | CA387461331 | GJB2 | c.349G>A (p.Asp117Asn)
| |
13 | g.20189234C>A | CA387461333 | GJB2 | c.348G>T (p.Lys116Asn)
| |
13 | g.20189234C>G | CA387461334 | GJB2 | c.348G>C (p.Lys116Asn)
| |
13 | g.20189234C>T | CA483154011 | GJB2 | c.348G>A (p.Lys116=)
| |
13 | g.20189235T>A | CA387461335 | GJB2 | c.347A>T (p.Lys116Met)
| |
13 | g.20189235T>C | CA387461336 | GJB2 | c.347A>G (p.Lys116Arg)
| |
13 | g.20189235T>G | CA387461337 | GJB2 | c.347A>C (p.Lys116Thr)
| |
13 | g.20189236T>A | CA387461338 | GJB2 | c.346A>T (p.Lys116Ter)
| |
13 | g.20189236T>C | CA387461339 | GJB2 | c.346A>G (p.Lys116Glu)
| dbSNP |
13 | g.20189236T>G | CA387461340 | GJB2 | c.346A>C (p.Lys116Gln)
| |
13 | g.20189236T= | CA2077139454 | GJB2 | c.346A= (p.Lys116=)
| |
13 | g.20189237A= | CA2077139455 | GJB2 | c.345T= (p.Phe115=)
| |
13 | g.20189237A>C | CA387461341 | GJB2 | c.345T>G (p.Phe115Leu)
| dbSNP gnomAD v4 |
13 | g.20189237A>G | CA483154012 | GJB2 | c.345T>C (p.Phe115=)
| |
13 | g.20189237A>T | CA387461342 | GJB2 | c.345T>A (p.Phe115Leu)
| |
13 | g.20189239dup | CA2695217676 | GJB2 | c.345dup (p.Lys116Ter)
| ClinVar |
13 | g.20189239del | CA2839535260 | GJB2 | c.345del (p.Phe115LeufsTer?)
| |
13 | g.20189238A= | CA2077139456 | GJB2 | c.344T= (p.Phe115=)
| |
13 | g.20189238A>C | CA387461343 | GJB2 | c.344T>G (p.Phe115Cys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
13 | g.20189238A>G | CA387461344 | GJB2 | c.344T>C (p.Phe115Ser)
| |
13 | g.20189238A>T | CA387461345 | GJB2 | c.344T>A (p.Phe115Tyr)
| |
13 | g.20189239A= | CA2077139459 | GJB2 | c.343T= (p.Phe115=)
| |
13 | g.20189239A>C | CA387461348 | GJB2 | c.343T>G (p.Phe115Val)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189239A>G | CA387461346 | GJB2 | c.343T>C (p.Phe115Leu)
| |
13 | g.20189239A>T | CA387461347 | GJB2 | c.343T>A (p.Phe115Ile)
| |
13 | g.20189240T>A | CA387461349 | GJB2 | c.342A>T (p.Glu114Asp)
| |
13 | g.20189240T>C | CA483154013 | GJB2 | c.342A>G (p.Glu114=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189240T>G | CA387461350 | GJB2 | c.342A>C (p.Glu114Asp)
| dbSNP |
13 | g.20189240T= | CA2077139461 | GJB2 | c.342A= (p.Glu114=)
| |
13 | g.20189240_20189241delinsTT | CA2077139462 | GJB2 | c.341_342delinsAA (p.Glu114=)
| |
13 | g.20189241dup | CA912980094 | GJB2 | c.342dup (p.Phe115IlefsTer2)
| |
13 | g.20189241T>A | CA387461351 | GJB2 | c.341A>T (p.Glu114Val)
| |
13 | g.20189241T>C | CA134960 | GJB2 | c.341A>G (p.Glu114Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.[20189241T>C;20189503C>T] | CA354398 | GJB2 | c.[79G>A;341A>G] (p.[Val27Ile;Glu114Gly])
| |
13 | g.20189241T>G | CA387461352 | GJB2 | c.341A>C (p.Glu114Ala)
| |
13 | g.20189241T= | CA2077139464 | GJB2 | c.341A= (p.Glu114=)
| |
13 | g.20189241delinsAG | CA919221226 | GJB2 | c.341delinsCT (p.Glu114AlafsTer3)
| dbSNP |
13 | g.20189243_20189246dup | CA608984165 | GJB2 | c.338_341dup (p.Phe115Ter)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189242C>A | CA387461353 | GJB2 | c.340G>T (p.Glu114Ter)
| |
13 | g.20189242C= | CA2077139466 | GJB2 | c.340G= (p.Glu114=)
| |
13 | g.20189242C>G | CA387461354 | GJB2 | c.340G>C (p.Glu114Gln)
| |
13 | g.20189242C>T | CA6904279 | GJB2 | c.340G>A (p.Glu114Lys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189243A= | CA2077139470 | GJB2 | c.339T= (p.Ser113=)
| |
13 | g.20189243A>C | CA342004 | GJB2 | c.339T>G (p.Ser113Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189243A>G | CA483154014 | GJB2 | c.339T>C (p.Ser113=)
| |
13 | g.20189243A>T | CA387461355 | GJB2 | c.339T>A (p.Ser113Arg)
| |
13 | g.20189244C>A | CA387461356 | GJB2 | c.338G>T (p.Ser113Ile)
| |
13 | g.20189244C>G | CA387461357 | GJB2 | c.338G>C (p.Ser113Thr)
| |
13 | g.20189244C>T | CA387461358 | GJB2 | c.338G>A (p.Ser113Asn)
| |
13 | g.20189245T>A | CA387461360 | GJB2 | c.337A>T (p.Ser113Cys)
| |
13 | g.20189245T>C | CA387461361 | GJB2 | c.337A>G (p.Ser113Gly)
| dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189245T>G | CA387461359 | GJB2 | c.337A>C (p.Ser113Arg)
| |
13 | g.20189245T= | CA2077139475 | GJB2 | c.337A= (p.Ser113=)
| |
13 | g.20189246_20189249del | CA2575364820 | GJB2 | c.334_337del (p.Lys112ValfsTer?)
| |
13 | g.20189246C>A | CA387461362 | GJB2 | c.336G>T (p.Lys112Asn)
| dbSNP |
13 | g.20189246C= | CA2077139479 | GJB2 | c.336G= (p.Lys112=)
| |
13 | g.20189246C>G | CA387461363 | GJB2 | c.336G>C (p.Lys112Asn)
| |
13 | g.20189246C>T | CA483154015 | GJB2 | c.336G>A (p.Lys112=)
| dbSNP |
13 | g.20189246_20189248delinsCTT | CA2077139478 | GJB2 | c.334_336delinsAAG (p.Lys112=)
| |
13 | g.20189247T>A | CA387461364 | GJB2 | c.335A>T (p.Lys112Met)
| |
13 | g.20189247T>C | CA387461365 | GJB2 | c.335A>G (p.Lys112Arg)
| |
13 | g.20189247T>G | CA387461366 | GJB2 | c.335A>C (p.Lys112Thr)
| |
13 | g.20189249dup | CA2842434867 | GJB2 | c.335dup (p.Ser113GlufsTer2)
| |
13 | g.20189249del | CA2838197075 | GJB2 | c.335del (p.Lys112ArgfsTer?)
| |
13 | g.20189248_20189249del | CA274322 | GJB2 | c.334_335del (p.Lys112GlufsTer2)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189248T>A | CA387461367 | GJB2 | c.334A>T (p.Lys112Ter)
| |
13 | g.20189248T>C | CA387461368 | GJB2 | c.334A>G (p.Lys112Glu)
| |
13 | g.20189248T>G | CA387461369 | GJB2 | c.334A>C (p.Lys112Gln)
| |
13 | g.20189249T>A | CA483154016 | GJB2 | c.333A>T (p.Ile111=)
| |
13 | g.20189249T>C | CA387461370 | GJB2 | c.333A>G (p.Ile111Met)
| gnomAD v4 |
13 | g.20189249T>G | CA483154017 | GJB2 | c.333A>C (p.Ile111=)
| |
13 | g.20189250A= | CA2077139482 | GJB2 | c.332T= (p.Ile111=)
| |
13 | g.20189250A>C | CA387461371 | GJB2 | c.332T>G (p.Ile111Arg)
| |
13 | g.20189250A>G | CA387461372 | GJB2 | c.332T>C (p.Ile111Thr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189250A>T | CA387461373 | GJB2 | c.332T>A (p.Ile111Lys)
| |
13 | g.20189251T>A | CA387461374 | GJB2 | c.331A>T (p.Ile111Leu)
| |
13 | g.20189251T>C | CA246460323 | GJB2 | c.331A>G (p.Ile111Val)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189251T>G | CA387461375 | GJB2 | c.331A>C (p.Ile111Leu)
| |
13 | g.20189251T= | CA2077139486 | GJB2 | c.331A= (p.Ile111=)
| |
13 | g.20189252C>A | CA387461376 | GJB2 | c.330G>T (p.Glu110Asp)
| |
13 | g.20189252C>G | CA387461377 | GJB2 | c.330G>C (p.Glu110Asp)
| |
13 | g.20189252C>T | CA483153736 | GJB2 | c.330G>A (p.Glu110=)
| ClinVar |
13 | g.20189252_20189268delinsCTCCCCCTTGATGAACT | CA2077139491 | GJB2 | c.314_330delinsAGTTCATCAAGGGGGAG (p.Lys105=)
| |
13 | g.20189253del | CA2695217677 | GJB2 | c.329del (p.Glu110GlyfsTer2)
| |
13 | g.20189253T>A | CA387461378 | GJB2 | c.329A>T (p.Glu110Val)
| |
13 | g.20189253T>C | CA387461379 | GJB2 | c.329A>G (p.Glu110Gly)
| gnomAD v4 |
13 | g.20189253T>G | CA387461380 | GJB2 | c.329A>C (p.Glu110Ala)
| |
13 | g.20189253_20189255delinsTCC | CA2077139497 | GJB2 | c.327_329delinsGGA (p.Gly109=)
| |
13 | g.20189256_20189271del | CA277273 | GJB2 | c.314_329del (p.Lys105ArgfsTer2)
| ClinVar dbSNP |
13 | g.20189254C>A | CA6904280 | GJB2 | c.328G>T (p.Glu110Ter)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189254C= | CA2077139502 | GJB2 | c.328G= (p.Glu110=)
| |
13 | g.20189254C>G | CA387461381 | GJB2 | c.328G>C (p.Glu110Gln)
| |
13 | g.20189254C>T | CA387461382 | GJB2 | c.328G>A (p.Glu110Lys)
| |
13 | g.20189254_20189255delinsT | CA658823452 | GJB2 | c.327_328delinsA (p.Glu110ArgfsTer2)
| ClinVar dbSNP |
13 | g.20189258dup | CA2798416346 | GJB2 | c.328dup (p.Glu110GlyfsTer5)
| |
13 | g.20189258del | CA2580086790 | GJB2 | c.328del (p.Glu110ArgfsTer2)
| ClinVar gnomAD v4 |
13 | g.20189257_20189258del | CA2695217678 | GJB2 | c.327_328del (p.Glu110AspfsTer4)
| |
13 | g.20189255C>A | CA246460332 | GJB2 | c.327G>T (p.Gly109=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189255C= | CA2077139508 | GJB2 | c.327G= (p.Gly109=)
| |
13 | g.20189255C>G | CA483153737 | GJB2 | c.327G>C (p.Gly109=)
| |
13 | g.20189255C>T | CA246460335 | GJB2 | c.327G>A (p.Gly109=)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189255_20189268del | CA2695217679 | GJB2 | c.314_327del (p.Lys105ArgfsTer5)
| |
13 | g.20189255_20189269delinsCCCCTTGATGAACTT | CA2077139507 | GJB2 | c.313_327delinsAAGTTCATCAAGGGG (p.Lys105=)
| |
13 | g.20189256C>A | CA387461383 | GJB2 | c.326G>T (p.Gly109Val)
| ClinVar dbSNP |
13 | g.20189256C= | CA2077139513 | GJB2 | c.326G= (p.Gly109=)
| |
13 | g.20189256C>G | CA387461384 | GJB2 | c.326G>C (p.Gly109Ala)
| |
13 | g.20189256C>T | CA6904281 | GJB2 | c.326G>A (p.Gly109Glu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189258_20189271del | CA172223 | GJB2 | c.313_326del (p.Lys105GlyfsTer5)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189257C>A | CA387461386 | GJB2 | c.325G>T (p.Gly109Trp)
| dbSNP |
13 | g.20189257C= | CA2077139516 | GJB2 | c.325G= (p.Gly109=)
| |
13 | g.20189257C>G | CA246460357 | GJB2 | c.325G>C (p.Gly109Arg)
| dbSNP |
13 | g.20189257C>T | CA387461385 | GJB2 | c.325G>A (p.Gly109Arg)
| COSMIC |
13 | g.20189258C>A | CA387461387 | GJB2 | c.324G>T (p.Lys108Asn)
| |
13 | g.20189258C= | CA2077139518 | GJB2 | c.324G= (p.Lys108=)
| |
13 | g.20189258C>G | CA387461388 | GJB2 | c.324G>C (p.Lys108Asn)
| |
13 | g.20189258C>T | CA483153738 | GJB2 | c.324G>A (p.Lys108=)
| ClinVar dbSNP |
13 | g.20189259T>A | CA387461389 | GJB2 | c.323A>T (p.Lys108Met)
| |
13 | g.20189259T>C | CA387461390 | GJB2 | c.323A>G (p.Lys108Arg)
| |
13 | g.20189259T>G | CA387461391 | GJB2 | c.323A>C (p.Lys108Thr)
| dbSNP gnomAD v4 |
13 | g.20189259T= | CA2077139524 | GJB2 | c.323A= (p.Lys108=)
| |
13 | g.20189260dup | CA2838896688 | GJB2 | c.323dup (p.Glu110GlyfsTer5)
| |
13 | g.20189259_20189272del | CA2695217680 | GJB2 | c.310_323del (p.Arg104GlyfsTer6)
| |
13 | g.20189260T>A | CA387461392 | GJB2 | c.322A>T (p.Lys108Ter)
| |
13 | g.20189260T>C | CA387461393 | GJB2 | c.322A>G (p.Lys108Glu)
| ClinVar dbSNP |
13 | g.20189260T>G | CA387461394 | GJB2 | c.322A>C (p.Lys108Gln)
| |
13 | g.20189260T= | CA2077139528 | GJB2 | c.322A= (p.Lys108=)
| |
13 | g.20189261G>A | CA246460358 | GJB2 | c.321C>T (p.Ile107=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189261G>C | CA387461395 | GJB2 | c.321C>G (p.Ile107Met)
| COSMIC |
13 | g.20189261G= | CA2077139534 | GJB2 | c.321C= (p.Ile107=)
| |
13 | g.20189261G>T | CA483153739 | GJB2 | c.321C>A (p.Ile107=)
| |
13 | g.20189262A>C | CA387461396 | GJB2 | c.320T>G (p.Ile107Ser)
| |
13 | g.20189262A>G | CA387461397 | GJB2 | c.320T>C (p.Ile107Thr)
| |
13 | g.20189262A>T | CA387461398 | GJB2 | c.320T>A (p.Ile107Asn)
| |
13 | g.20189263T>A | CA387461400 | GJB2 | c.319A>T (p.Ile107Phe)
| |
13 | g.20189263T>C | CA246460359 | GJB2 | c.319A>G (p.Ile107Val)
| dbSNP |
13 | g.20189263T>G | CA387461399 | GJB2 | c.319A>C (p.Ile107Leu)
| dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189263T= | CA2077139538 | GJB2 | c.319A= (p.Ile107=)
| |
13 | g.20189264G>A | CA483153740 | GJB2 | c.318C>T (p.Phe106=)
| ClinVar gnomAD v4 |
13 | g.20189264G>C | CA387461401 | GJB2 | c.318C>G (p.Phe106Leu)
| |
13 | g.20189264G= | CA2077139544 | GJB2 | c.318C= (p.Phe106=)
| |
13 | g.20189264G>T | CA6904282 | GJB2 | c.318C>A (p.Phe106Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189265A= | CA2077139547 | GJB2 | c.317T= (p.Phe106=)
| |
13 | g.20189265A>C | CA387461402 | GJB2 | c.317T>G (p.Phe106Cys)
| |
13 | g.20189265A>G | CA387461403 | GJB2 | c.317T>C (p.Phe106Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189265A>T | CA387461404 | GJB2 | c.317T>A (p.Phe106Tyr)
| |
13 | g.20189266A>C | CA387461405 | GJB2 | c.316T>G (p.Phe106Val)
| |
13 | g.20189266A>G | CA387461406 | GJB2 | c.316T>C (p.Phe106Leu)
| gnomAD v4 |
13 | g.20189266A>T | CA387461407 | GJB2 | c.316T>A (p.Phe106Ile)
| |
13 | g.20189266_20189279del | CA2695217681 | GJB2 | c.303_316del (p.Glu101AspfsTer9)
| |
13 | g.20189267C>A | CA387461408 | GJB2 | c.315G>T (p.Lys105Asn)
| gnomAD v4 |
13 | g.20189267C>G | CA387461409 | GJB2 | c.315G>C (p.Lys105Asn)
| |
13 | g.20189267C>T | CA483153741 | GJB2 | c.315G>A (p.Lys105=)
| |
13 | g.20189268T>A | CA387461410 | GJB2 | c.314A>T (p.Lys105Met)
| |
13 | g.20189268T>C | CA387461411 | GJB2 | c.314A>G (p.Lys105Arg)
| |
13 | g.20189268T>G | CA387461412 | GJB2 | c.314A>C (p.Lys105Thr)
| |
13 | g.20189268_20189269del | CA2695217683 | GJB2 | c.313_314del (p.Lys105ValfsTer9)
| |
13 | g.20189269del | CA2695217682 | GJB2 | c.314del (p.Lys105SerfsTer7)
| |
13 | g.20189269T>A | CA387461415 | GJB2 | c.313A>T (p.Lys105Ter)
| |
13 | g.20189269T>C | CA387461414 | GJB2 | c.313A>G (p.Lys105Glu)
| |
13 | g.20189269T>G | CA387461413 | GJB2 | c.313A>C (p.Lys105Gln)
| |
13 | g.20189270C>A | CA6904283 | GJB2 | c.312G>T (p.Arg104Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189270C= | CA2077139553 | GJB2 | c.312G= (p.Arg104=)
| |
13 | g.20189270C>G | CA387461416 | GJB2 | c.312G>C (p.Arg104Ser)
| |
13 | g.20189270C>T | CA246460386 | GJB2 | c.312G>A (p.Arg104=)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189271C>A | CA387461417 | GJB2 | c.311G>T (p.Arg104Met)
| |
13 | g.20189271C>G | CA387461418 | GJB2 | c.311G>C (p.Arg104Thr)
| gnomAD v4 |
13 | g.20189271C>T | CA387461419 | GJB2 | c.311G>A (p.Arg104Lys)
| gnomAD v4 |
13 | g.20189271_20189274delinsCTCT | CA2077139558 | GJB2 | c.308_311delinsAGAG (p.Lys103=)
| |
13 | g.20189272T>A | CA387461420 | GJB2 | c.310A>T (p.Arg104Trp)
| |
13 | g.20189272T>C | CA387461421 | GJB2 | c.310A>G (p.Arg104Gly)
| gnomAD v4 |
13 | g.20189272T>G | CA483153742 | GJB2 | c.310A>C (p.Arg104=)
| ClinVar dbSNP |
13 | g.20189272T= | CA2077139564 | GJB2 | c.310A= (p.Arg104=)
| |
13 | g.20189278_20189280del | CA645587645 | GJB2 | c.308_310del (p.Lys103del)
| ClinVar dbSNP gnomAD v4 COSMIC |
13 | g.20189273C>A | CA387461422 | GJB2 | c.309G>T (p.Lys103Asn)
| |
13 | g.20189273C= | CA2077139569 | GJB2 | c.309G= (p.Lys103=)
| |
13 | g.20189273C>G | CA387461423 | GJB2 | c.309G>C (p.Lys103Asn)
| |
13 | g.20189273C>T | CA483153743 | GJB2 | c.309G>A (p.Lys103=)
| dbSNP gnomAD v4 |
13 | g.20189274T>A | CA246460392 | GJB2 | c.308A>T (p.Lys103Met)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189274T>C | CA387461424 | GJB2 | c.308A>G (p.Lys103Arg)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189274T>G | CA387461425 | GJB2 | c.308A>C (p.Lys103Thr)
| |
13 | g.20189274T= | CA2077139572 | GJB2 | c.308A= (p.Lys103=)
| |
13 | g.20189275T>A | CA387461428 | GJB2 | c.307A>T (p.Lys103Ter)
| |
13 | g.20189275T>C | CA387461427 | GJB2 | c.307A>G (p.Lys103Glu)
| |
13 | g.20189275T>G | CA387461426 | GJB2 | c.307A>C (p.Lys103Gln)
| |
13 | g.20189275T= | CA2077139579 | GJB2 | c.307A= (p.Lys103=)
| |
13 | g.20189275_20189276insTCTGAAGAGTGGATCTCACTTG | CA2077139585 | GJB2 | c.306_307insCAAGTGAGATCCACTCTTCAGA (p.Lys103GlnfsTer19)
| dbSNP |
13 | g.20189276C>A | CA387461429 | GJB2 | c.306G>T (p.Lys102Asn)
| |
13 | g.20189276C= | CA2077139588 | GJB2 | c.306G= (p.Lys102=)
| |
13 | g.20189276C>G | CA6904285 | GJB2 | c.306G>C (p.Lys102Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189276C>T | CA6904284 | GJB2 | c.306G>A (p.Lys102=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189277T>A | CA387461430 | GJB2 | c.305A>T (p.Lys102Met)
| |
13 | g.20189277T>C | CA387461431 | GJB2 | c.305A>G (p.Lys102Arg)
| |
13 | g.20189277T>G | CA387461432 | GJB2 | c.305A>C (p.Lys102Thr)
| |
13 | g.20189278T>A | CA387461433 | GJB2 | c.304A>T (p.Lys102Ter)
| |
13 | g.20189278T>C | CA387461434 | GJB2 | c.304A>G (p.Lys102Glu)
| gnomAD v4 |
13 | g.20189278T>G | CA387461435 | GJB2 | c.304A>C (p.Lys102Gln)
| gnomAD v4 |
13 | g.20189278_20189281del | CA912980095 | GJB2 | c.301_304del (p.Glu101ArgfsTer10)
| |
13 | g.20189278_20189281delinsTCTC | CA2077139597 | GJB2 | c.301_304delinsGAGA (p.Glu101=)
| |
13 | g.20189279C>A | CA387461436 | GJB2 | c.303G>T (p.Glu101Asp)
| |
13 | g.20189279C>G | CA387461437 | GJB2 | c.303G>C (p.Glu101Asp)
| gnomAD v4 |
13 | g.20189279C>T | CA483153744 | GJB2 | c.303G>A (p.Glu101=)
| ClinVar |
13 | g.20189279_20189281del | CA658823458 | GJB2 | c.301_303del (p.Glu101del)
| ClinVar dbSNP gnomAD v4 |
13 | g.20189280T>A | CA387461440 | GJB2 | c.302A>T (p.Glu101Val)
| |
13 | g.20189280T>C | CA387461439 | GJB2 | c.302A>G (p.Glu101Gly)
| |
13 | g.20189280T>G | CA387461438 | GJB2 | c.302A>C (p.Glu101Ala)
| |