UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71223657_71223971del | CA2739273574 | GJB1 | c.-16-35_264del | ClinVar |
| X | g.71223667T>C | CA2512235966 | GJB1 | c.-16-25T>C (n.-16-25T>C) | |
| X | g.71223669G>A | CA330997626 | GJB1 | c.-16-23G>A (n.-16-23G>A) | dbSNP |
| X | g.71223669G= | CA2436388062 | GJB1 | c.-16-23G= (n.-16-23G=) | |
| X | g.71223669G>T | CA2694032239 | GJB1 | c.-16-23G>T (n.-16-23G>T) | gnomAD v4 |
| X | g.71223670del | CA2514491645 | GJB1 | c.-16-22del (n.-16-22del) | |
| X | g.71223670C>A | CA2694032240 | GJB1 | c.-16-22C>A (n.-16-22C>A) | dbSNP gnomAD v4 |
| X | g.71223670C= | CA2436388063 | GJB1 | c.-16-22C= (n.-16-22C=) | |
| X | g.71223670C>T | CA10445266 | GJB1 | c.-16-22C>T (n.-16-22C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223672T>A | CA2579640060 | GJB1 | c.-16-20T>A (n.-16-20T>A) | |
| X | g.71223672T>G | CA2579640061 | GJB1 | c.-16-20T>G (n.-16-20T>G) | |
| X | g.71223673C>A | CA2694032241 | GJB1 | c.-16-19C>A (n.-16-19C>A) | gnomAD v4 |
| X | g.71223673C>G | CA2694032242 | GJB1 | c.-16-19C>G (n.-16-19C>G) | gnomAD v4 |
| X | g.71223673_71223674insT | CA2565114078 | GJB1 | c.-16-19_-16-18insT (n.-16-19_-16-18insT) | |
| X | g.71223674A= | CA2436388064 | GJB1 | c.-16-18A= (n.-16-18A=) | |
| X | g.71223674A>G | CA2436388065 | GJB1 | c.-16-18A>G (n.-16-18A>G) | dbSNP gnomAD v4 |
| X | g.71223676G>T | CA2694032243 | GJB1 | c.-16-16G>T (n.-16-16G>T) | gnomAD v4 |
| X | g.71223677G>A | CA2694032244 | GJB1 | c.-16-15G>A (n.-16-15G>A) | gnomAD v4 |
| X | g.71223677G>C | CA641909057 | GJB1 | c.-16-15G>C (n.-16-15G>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223677G= | CA2436388066 | GJB1 | c.-16-15G= (n.-16-15G=) | |
| X | g.71223677G>T | CA2694032245 | GJB1 | c.-16-15G>T (n.-16-15G>T) | gnomAD v4 |
| X | g.71223678C>A | CA2694032246 | GJB1 | c.-16-14C>A (n.-16-14C>A) | gnomAD v4 |
| X | g.71223680G>C | CA2513290754 | GJB1 | c.-16-12G>C (n.-16-12G>C) | |
| X | g.71223685_71223695del | CA2695234553 | GJB1 | c.-16-7_-13del | |
| X | g.71223681G>A | CA2504031073 | GJB1 | c.-16-11G>A (n.-16-11G>A) | |
| X | g.71223681G= | CA2436388067 | GJB1 | c.-16-11G= (n.-16-11G=) | |
| X | g.71223681G>T | CA10445267 | GJB1 | c.-16-11G>T (n.-16-11G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223684_71223696del | CA2573159490 | GJB1 | c.-16-8_-12del | ClinVar dbSNP |
| X | g.71223682T>C | CA2579640062 | GJB1 | c.-16-10T>C (n.-16-10T>C) | gnomAD v4 |
| X | g.71223682T>G | CA10445268 | GJB1 | c.-16-10T>G (n.-16-10T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223682T= | CA2436388068 | GJB1 | c.-16-10T= (n.-16-10T=) | |
| X | g.71223684T>G | CA10445269 | GJB1 | c.-16-8T>G (n.-16-8T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223684T= | CA2436388069 | GJB1 | c.-16-8T= (n.-16-8T=) | |
| X | g.71223686T>C | CA1134115219 | GJB1 | c.-16-6T>C (n.-16-6T>C) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223686T= | CA2436388070 | GJB1 | c.-16-6T= (n.-16-6T=) | |
| X | g.71223688G= | CA2436388071 | GJB1 | c.-16-4G= (n.-16-4G=) | |
| X | g.71223688G>T | CA10445270 | GJB1 | c.-16-4G>T (n.-16-4G>T) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.71223689C= | CA2436388072 | GJB1 | c.-16-3C= (n.-16-3C=) | |
| X | g.71223689C>G | CA915951168 | GJB1 | c.-16-3C>G (n.-16-3C>G) | ClinVar dbSNP |
| X | g.71223689C>T | CA2694032247 | GJB1 | c.-16-3C>T (n.-16-3C>T) | gnomAD v4 |
| X | g.71223690A= | CA2436388073 | GJB1 | c.-16-2A= (n.-16-2A=) | |
| X | g.71223690A>G | CA10584089 | GJB1 | c.-16-2A>G (n.-16-2A>G) | ClinVar dbSNP |
| X | g.71223690A>T | CA10445271 | GJB1 | c.-16-2A>T (n.-16-2A>T) | dbSNP ExAC |
| X | g.71223691G>A | CA2580101318 | GJB1 | c.-16-1G>A (n.-16-1G>A) | ClinVar |
| X | g.71223695_71223696del | CA2579640063 | GJB1 | c.-13_-12del (n.-13_-12del) | |
| X | g.71223693T>C | CA2579640064 | GJB1 | c.-15T>C (n.-15T>C) | gnomAD v4 |
| X | g.71223694G>T | CA2694032248 | GJB1 | c.-14G>T (n.-14G>T) | gnomAD v4 |
| X | g.71223696G>T | CA2694032249 | GJB1 | c.-12G>T (n.-12G>T) | gnomAD v4 |
| X | g.71223698A>T | CA2694032250 | GJB1 | c.-10A>T (n.-10A>T) | gnomAD v4 |
| X | g.71223699T>A | CA657732655 | GJB1 | c.-9T>A (n.-9T>A) | COSMIC |
| X | g.71223699T>C | CA2694032251 | GJB1 | c.-9T>C (n.-9T>C) | gnomAD v4 |
| X | g.71223700G>A | CA2694032252 | GJB1 | c.-8G>A (n.-8G>A) | gnomAD v4 |
| X | g.71223700G>T | CA2694032253 | GJB1 | c.-8G>T (n.-8G>T) | gnomAD v4 |
| X | g.71223702G>A | CA10445272 | GJB1 | c.-6G>A (n.-6G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223702G= | CA2436388074 | GJB1 | c.-6G= (n.-6G=) | |
| X | g.71223703G>T | CA2694032254 | GJB1 | c.-5G>T (n.-5G>T) | gnomAD v4 |
| X | g.71223706G>A | CA2694032255 | GJB1 | c.-2G>A (n.-2G>A) | gnomAD v4 |
| X | g.71223707G>C | CA2738735654 | GJB1 | c.-1G>C (n.-1G>C) | dbSNP |
| X | g.71223707G>T | CA2502431822 | GJB1 | c.-1G>T (n.-1G>T) | gnomAD v4 |
| X | g.71223708A= | CA2436388075 | GJB1 | c.1A= (p.Met1=) | |
| X | g.71223708A>C | CA413499234 | GJB1 | c.1A>C (p.Met1Leu) | |
| X | g.71223708A>G | CA413499238 | GJB1 | c.1A>G (p.Met1Val) | ClinVar |
| X | g.71223708A>T | CA413499240 | GJB1 | c.1A>T (p.Met1Leu) | ClinVar dbSNP |
| X | g.71223709T>A | CA413499247 | GJB1 | c.2T>A (p.Met1Lys) | ClinVar dbSNP |
| X | g.71223709T>C | CA413499250 | GJB1 | c.2T>C (p.Met1Thr) | ClinVar dbSNP COSMIC |
| X | g.71223709T>G | CA413499243 | GJB1 | c.2T>G (p.Met1Arg) | ClinVar dbSNP |
| X | g.71223709T= | CA2436388076 | GJB1 | c.2T= (p.Met1=) | |
| X | g.71223710G>A | CA413499255 | GJB1 | c.3G>A (p.Met1Ile) | |
| X | g.71223710G>C | CA413499253 | GJB1 | c.3G>C (p.Met1Ile) | ClinVar |
| X | g.71223710G= | CA2436388077 | GJB1 | c.3G= (p.Met1=) | |
| X | g.71223710G>T | CA413499257 | GJB1 | c.3G>T (p.Met1Ile) | ClinVar dbSNP |
| X | g.71223711A>C | CA413499259 | GJB1 | c.4A>C (p.Asn2His) | |
| X | g.71223711A>G | CA413499262 | GJB1 | c.4A>G (p.Asn2Asp) | |
| X | g.71223711A>T | CA413499260 | GJB1 | c.4A>T (p.Asn2Tyr) | |
| X | g.71223712A>C | CA413499264 | GJB1 | c.5A>C (p.Asn2Thr) | |
| X | g.71223712A>G | CA413499267 | GJB1 | c.5A>G (p.Asn2Ser) | ClinVar |
| X | g.71223712A>T | CA413499269 | GJB1 | c.5A>T (p.Asn2Ile) | |
| X | g.71223713C>A | CA413499271 | GJB1 | c.6C>A (p.Asn2Lys) | |
| X | g.71223713C= | CA2436388078 | GJB1 | c.6C= (p.Asn2=) | |
| X | g.71223713C>G | CA413499274 | GJB1 | c.6C>G (p.Asn2Lys) | ClinVar dbSNP |
| X | g.71223713C>T | CA516718297 | GJB1 | c.6C>T (p.Asn2=) | dbSNP |
| X | g.71223714T>A | CA413499276 | GJB1 | c.7T>A (p.Trp3Arg) | |
| X | g.71223714T>C | CA413499277 | GJB1 | c.7T>C (p.Trp3Arg) | ClinVar dbSNP |
| X | g.71223714T>G | CA413499279 | GJB1 | c.7T>G (p.Trp3Gly) | ClinVar dbSNP |
| X | g.71223714T= | CA2436388079 | GJB1 | c.7T= (p.Trp3=) | |
| X | g.71223715G>A | CA413499283 | GJB1 | c.8G>A (p.Trp3Ter) | ClinVar dbSNP |
| X | g.71223715G>C | CA413499286 | GJB1 | c.8G>C (p.Trp3Ser) | ClinVar dbSNP |
| X | g.71223715G= | CA2436388080 | GJB1 | c.8G= (p.Trp3=) | |
| X | g.71223715G>T | CA413499288 | GJB1 | c.8G>T (p.Trp3Leu) | |
| X | g.71223716G>A | CA338521 | GJB1 | c.9G>A (p.Trp3Ter) | ClinVar dbSNP |
| X | g.71223716G>C | CA413499293 | GJB1 | c.9G>C (p.Trp3Cys) | |
| X | g.71223716G= | CA2436388081 | GJB1 | c.9G= (p.Trp3=) | |
| X | g.71223716G>T | CA413499292 | GJB1 | c.9G>T (p.Trp3Cys) | |
| X | g.71223717A>C | CA413499296 | GJB1 | c.10A>C (p.Thr4Pro) | |
| X | g.71223717A>G | CA413499299 | GJB1 | c.10A>G (p.Thr4Ala) | |
| X | g.71223717A>T | CA413499302 | GJB1 | c.10A>T (p.Thr4Ser) | |
| X | g.71223718C>A | CA413499304 | GJB1 | c.11C>A (p.Thr4Lys) | ClinVar dbSNP |
| X | g.71223718C= | CA2436388082 | GJB1 | c.11C= (p.Thr4=) | |
| X | g.71223718C>G | CA413499306 | GJB1 | c.11C>G (p.Thr4Arg) | |
| X | g.71223718C>T | CA413499309 | GJB1 | c.11C>T (p.Thr4Ile) | |
| X | g.71223719A>C | CA516718338 | GJB1 | c.12A>C (p.Thr4=) | |
| X | g.71223719A>G | CA516718349 | GJB1 | c.12A>G (p.Thr4=) | |
| X | g.71223719A>T | CA516718342 | GJB1 | c.12A>T (p.Thr4=) | |
| X | g.71223720G>A | CA413499312 | GJB1 | c.13G>A (p.Gly5Ser) | ClinVar dbSNP |
| X | g.71223720G>C | CA413499315 | GJB1 | c.13G>C (p.Gly5Arg) | |
| X | g.71223720G= | CA2436388083 | GJB1 | c.13G= (p.Gly5=) | |
| X | g.71223720G>T | CA413499317 | GJB1 | c.13G>T (p.Gly5Cys) | COSMIC |
| X | g.71223721G>A | CA413499321 | GJB1 | c.14G>A (p.Gly5Asp) | |
| X | g.71223721G>C | CA413499323 | GJB1 | c.14G>C (p.Gly5Ala) | |
| X | g.71223721G= | CA2436388084 | GJB1 | c.14G= (p.Gly5=) | |
| X | g.71223721G>T | CA16621491 | GJB1 | c.14G>T (p.Gly5Val) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223722T>A | CA516718369 | GJB1 | c.15T>A (p.Gly5=) | |
| X | g.71223722T>C | CA516718372 | GJB1 | c.15T>C (p.Gly5=) | |
| X | g.71223722T>G | CA516718375 | GJB1 | c.15T>G (p.Gly5=) | |
| X | g.71223723T>A | CA413499325 | GJB1 | c.16T>A (p.Leu6Met) | |
| X | g.71223723T>C | CA516718383 | GJB1 | c.16T>C (p.Leu6=) | gnomAD v4 |
| X | g.71223723T>G | CA413499328 | GJB1 | c.16T>G (p.Leu6Val) | |
| X | g.71223724T>A | CA413499330 | GJB1 | c.17T>A (p.Leu6Ter) | |
| X | g.71223724T>C | CA413499331 | GJB1 | c.17T>C (p.Leu6Ser) | ClinVar dbSNP |
| X | g.71223724T>G | CA413499334 | GJB1 | c.17T>G (p.Leu6Trp) | |
| X | g.71223724T= | CA2436388085 | GJB1 | c.17T= (p.Leu6=) | |
| X | g.71223725G>A | CA516718392 | GJB1 | c.18G>A (p.Leu6=) | |
| X | g.71223725G>C | CA413499337 | GJB1 | c.18G>C (p.Leu6Phe) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223725G= | CA2436388086 | GJB1 | c.18G= (p.Leu6=) | |
| X | g.71223725G>T | CA413499339 | GJB1 | c.18G>T (p.Leu6Phe) | |
| X | g.71223726T>A | CA413499340 | GJB1 | c.19T>A (p.Tyr7Asn) | |
| X | g.71223726T>C | CA413499344 | GJB1 | c.19T>C (p.Tyr7His) | gnomAD v4 |
| X | g.71223726T>G | CA413499346 | GJB1 | c.19T>G (p.Tyr7Asp) | |
| X | g.71223727A= | CA2436388087 | GJB1 | c.20A= (p.Tyr7=) | |
| X | g.71223727A>C | CA413499371 | GJB1 | c.20A>C (p.Tyr7Ser) | |
| X | g.71223727A>G | CA413499374 | GJB1 | c.20A>G (p.Tyr7Cys) | ClinVar dbSNP |
| X | g.71223727A>T | CA413499376 | GJB1 | c.20A>T (p.Tyr7Phe) | |
| X | g.71223727_71223729del | CA2695234554 | GJB1 | c.20_22del (p.Tyr7_Thr8delinsSer) | |
| X | g.71223728C>A | CA413499380 | GJB1 | c.21C>A (p.Tyr7Ter) | ClinVar |
| X | g.71223728C= | CA2436388088 | GJB1 | c.21C= (p.Tyr7=) | |
| X | g.71223728C>G | CA413499382 | GJB1 | c.21C>G (p.Tyr7Ter) | |
| X | g.71223728C>T | CA516718402 | GJB1 | c.21C>T (p.Tyr7=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223729A= | CA2436388089 | GJB1 | c.22A= (p.Thr8=) | |
| X | g.71223729A>C | CA413499386 | GJB1 | c.22A>C (p.Thr8Pro) | ClinVar dbSNP |
| X | g.71223729A>G | CA413499389 | GJB1 | c.22A>G (p.Thr8Ala) | |
| X | g.71223729A>T | CA413499393 | GJB1 | c.22A>T (p.Thr8Ser) | |
| X | g.71223730C>A | CA413499397 | GJB1 | c.23C>A (p.Thr8Asn) | |
| X | g.71223730C= | CA2436388090 | GJB1 | c.23C= (p.Thr8=) | |
| X | g.71223730C>G | CA413499401 | GJB1 | c.23C>G (p.Thr8Ser) | |
| X | g.71223730C>T | CA413499403 | GJB1 | c.23C>T (p.Thr8Ile) | ClinVar dbSNP |
| X | g.71223731C>A | CA516718413 | GJB1 | c.24C>A (p.Thr8=) | gnomAD v4 |
| X | g.71223731C>G | CA516718416 | GJB1 | c.24C>G (p.Thr8=) | |
| X | g.71223731C>T | CA516718420 | GJB1 | c.24C>T (p.Thr8=) | |
| X | g.71223732T>A | CA413499405 | GJB1 | c.25T>A (p.Leu9Met) | |
| X | g.71223732T>C | CA516718424 | GJB1 | c.25T>C (p.Leu9=) | |
| X | g.71223732T>G | CA413499408 | GJB1 | c.25T>G (p.Leu9Val) | |
| X | g.71223733T>A | CA413499411 | GJB1 | c.26T>A (p.Leu9Ter) | |
| X | g.71223733T>C | CA413499414 | GJB1 | c.26T>C (p.Leu9Ser) | ClinVar dbSNP |
| X | g.71223733T>G | CA413499416 | GJB1 | c.26T>G (p.Leu9Trp) | ClinVar dbSNP |
| X | g.71223733T= | CA2436388091 | GJB1 | c.26T= (p.Leu9=) | |
| X | g.71223734G>A | CA516718435 | GJB1 | c.27G>A (p.Leu9=) | |
| X | g.71223734G>C | CA413499420 | GJB1 | c.27G>C (p.Leu9Phe) | |
| X | g.71223734G= | CA2436388092 | GJB1 | c.27G= (p.Leu9=) | |
| X | g.71223734G>T | CA413499422 | GJB1 | c.27G>T (p.Leu9Phe) | ClinVar dbSNP |
| X | g.71223735C>A | CA413499426 | GJB1 | c.28C>A (p.Leu10Ile) | |
| X | g.71223735C>G | CA413499428 | GJB1 | c.28C>G (p.Leu10Val) | |
| X | g.71223735C>T | CA413499424 | GJB1 | c.28C>T (p.Leu10Phe) | |
| X | g.71223736T>A | CA413499435 | GJB1 | c.29T>A (p.Leu10His) | |
| X | g.71223736T>C | CA413499430 | GJB1 | c.29T>C (p.Leu10Pro) | |
| X | g.71223736T>G | CA413499432 | GJB1 | c.29T>G (p.Leu10Arg) | |
| X | g.71223737C>A | CA516718459 | GJB1 | c.30C>A (p.Leu10=) | ClinVar |
| X | g.71223737C= | CA2436388093 | GJB1 | c.30C= (p.Leu10=) | |
| X | g.71223737C>G | CA516718460 | GJB1 | c.30C>G (p.Leu10=) | ClinVar |
| X | g.71223737C>T | CA10445273 | GJB1 | c.30C>T (p.Leu10=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.71223738A= | CA2436388094 | GJB1 | c.31A= (p.Ser11=) | |
| X | g.71223738A>C | CA413499445 | GJB1 | c.31A>C (p.Ser11Arg) | |
| X | g.71223738A>G | CA413499447 | GJB1 | c.31A>G (p.Ser11Gly) | ClinVar dbSNP |
| X | g.71223738A>T | CA413499449 | GJB1 | c.31A>T (p.Ser11Cys) | |
| X | g.71223739G>A | CA413499451 | GJB1 | c.32G>A (p.Ser11Asn) | |
| X | g.71223739G>C | CA413499452 | GJB1 | c.32G>C (p.Ser11Thr) | COSMIC |
| X | g.71223739G>T | CA413499453 | GJB1 | c.32G>T (p.Ser11Ile) | |
| X | g.71223740T>A | CA413499454 | GJB1 | c.33T>A (p.Ser11Arg) | |
| X | g.71223740T>C | CA516718475 | GJB1 | c.33T>C (p.Ser11=) | ClinVar dbSNP gnomAD v4 |
| X | g.71223740T>G | CA413499455 | GJB1 | c.33T>G (p.Ser11Arg) | ClinVar |
| X | g.71223740_71223741delinsTG | CA2436388095 | GJB1 | c.33_34delinsTG (p.Ser11=) | |
| X | g.71223741G>A | CA413499462 | GJB1 | c.34G>A (p.Gly12Ser) | ClinVar dbSNP |
| X | g.71223741G>C | CA413499460 | GJB1 | c.34G>C (p.Gly12Arg) | |
| X | g.71223741G= | CA2436388096 | GJB1 | c.34G= (p.Gly12=) | |
| X | g.71223741G>T | CA413499458 | GJB1 | c.34G>T (p.Gly12Cys) | |
| X | g.71223742del | CA1139667643 | GJB1 | c.35del (p.Gly12AlafsTer2) | ClinVar dbSNP |
| X | g.71223742G>A | CA413499465 | GJB1 | c.35G>A (p.Gly12Asp) | ClinVar dbSNP |
| X | g.71223742G>C | CA413499468 | GJB1 | c.35G>C (p.Gly12Ala) | |
| X | g.71223742G= | CA2436388097 | GJB1 | c.35G= (p.Gly12=) | |
| X | g.71223742G>T | CA413499470 | GJB1 | c.35G>T (p.Gly12Val) | |
| X | g.71223743C>A | CA516718498 | GJB1 | c.36C>A (p.Gly12=) | ClinVar dbSNP |
| X | g.71223743C= | CA2436388098 | GJB1 | c.36C= (p.Gly12=) | |
| X | g.71223743C>G | CA516718495 | GJB1 | c.36C>G (p.Gly12=) | |
| X | g.71223743C>T | CA330997640 | GJB1 | c.36C>T (p.Gly12=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223744G>A | CA10445274 | GJB1 | c.37G>A (p.Val13Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223744G>C | CA413499475 | GJB1 | c.37G>C (p.Val13Leu) | |
| X | g.71223744G= | CA2436388099 | GJB1 | c.37G= (p.Val13=) | |
| X | g.71223744G>T | CA255251 | GJB1 | c.37G>T (p.Val13Leu) | ClinVar dbSNP |
| X | g.71223745T>A | CA413499479 | GJB1 | c.38T>A (p.Val13Glu) | |
| X | g.71223745T>C | CA413499481 | GJB1 | c.38T>C (p.Val13Ala) | dbSNP gnomAD v2 |
| X | g.71223745T>G | CA413499483 | GJB1 | c.38T>G (p.Val13Gly) | ClinVar dbSNP |
| X | g.71223745T= | CA2436388100 | GJB1 | c.38T= (p.Val13=) | |
| X | g.71223746G>A | CA516718510 | GJB1 | c.39G>A (p.Val13=) | |
| X | g.71223746G>C | CA516718514 | GJB1 | c.39G>C (p.Val13=) | |
| X | g.71223746G>T | CA516718511 | GJB1 | c.39G>T (p.Val13=) | |
| X | g.71223747A>C | CA413499486 | GJB1 | c.40A>C (p.Asn14His) | |
| X | g.71223747A>G | CA413499490 | GJB1 | c.40A>G (p.Asn14Asp) | |
| X | g.71223747A>T | CA413499499 | GJB1 | c.40A>T (p.Asn14Tyr) | |
| X | g.71223748A= | CA2436388101 | GJB1 | c.41A= (p.Asn14=) | |
| X | g.71223748A>C | CA413499505 | GJB1 | c.41A>C (p.Asn14Thr) | |
| X | g.71223748A>G | CA413499507 | GJB1 | c.41A>G (p.Asn14Ser) | ClinVar dbSNP |
| X | g.71223748A>T | CA413499502 | GJB1 | c.41A>T (p.Asn14Ile) | ClinVar dbSNP |
| X | g.71223748_71223749delinsAC | CA2436388102 | GJB1 | c.41_42delinsAC (p.Asn14=) | |
| X | g.71223749C>A | CA413499510 | GJB1 | c.42C>A (p.Asn14Lys) | |
| X | g.71223749C= | CA2436388103 | GJB1 | c.42C= (p.Asn14=) | |
| X | g.71223749C>G | CA413499512 | GJB1 | c.42C>G (p.Asn14Lys) | ClinVar dbSNP |
| X | g.71223749C>T | CA516718528 | GJB1 | c.42C>T (p.Asn14=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223750del | CA915951169 | GJB1 | c.43del (p.Arg15GlyfsTer?) | ClinVar dbSNP |
| X | g.71223749_71223750insT | CA915951170 | GJB1 | c.42_43insT (p.Arg15SerfsTer?) | ClinVar dbSNP |
| X | g.71223750C>A | CA516718531 | GJB1 | c.43C>A (p.Arg15=) | |
| X | g.71223750C= | CA2436388104 | GJB1 | c.43C= (p.Arg15=) | |
| X | g.71223750C>G | CA413499515 | GJB1 | c.43C>G (p.Arg15Gly) | |
| X | g.71223750C>T | CA333982 | GJB1 | c.43C>T (p.Arg15Trp) | ClinVar dbSNP |
| X | g.71223751G>A | CA279084 | GJB1 | c.44G>A (p.Arg15Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.71223751G>C | CA413499524 | GJB1 | c.44G>C (p.Arg15Pro) | ClinVar |
| X | g.71223751G= | CA2436388105 | GJB1 | c.44G= (p.Arg15=) | |
| X | g.71223751G>T | CA413499527 | GJB1 | c.44G>T (p.Arg15Leu) | |
| X | g.71223751_71223752delinsGG | CA2436388106 | GJB1 | c.44_45delinsGG (p.Arg15=) | |
| X | g.71223751_71223752delinsTT | CA915951171 | GJB1 | c.44_45delinsTT (p.Arg15Leu) | ClinVar dbSNP |
| X | g.71223754_71223770del | CA2695234555 | GJB1 | c.47_63del (p.His16ProfsTer25) | |
| X | g.71223752G>A | CA516718543 | GJB1 | c.45G>A (p.Arg15=) | dbSNP gnomAD v4 |
| X | g.71223752G>C | CA516718546 | GJB1 | c.45G>C (p.Arg15=) | |
| X | g.71223752G= | CA2436388107 | GJB1 | c.45G= (p.Arg15=) | |
| X | g.71223752G>T | CA516718549 | GJB1 | c.45G>T (p.Arg15=) | |
| X | g.71223753C>A | CA413499529 | GJB1 | c.46C>A (p.His16Asn) | |
| X | g.71223753C>G | CA413499532 | GJB1 | c.46C>G (p.His16Asp) | ClinVar dbSNP |
| X | g.71223753C>T | CA413499533 | GJB1 | c.46C>T (p.His16Tyr) | |
| X | g.71223754A= | CA2436388108 | GJB1 | c.47A= (p.His16=) | |
| X | g.71223754A>C | CA413499537 | GJB1 | c.47A>C (p.His16Pro) | ClinVar dbSNP |
| X | g.71223754A>G | CA413499542 | GJB1 | c.47A>G (p.His16Arg) | ClinVar dbSNP |
| X | g.71223754A>T | CA413499545 | GJB1 | c.47A>T (p.His16Leu) | ClinVar dbSNP |
| X | g.71223755T>A | CA413499550 | GJB1 | c.48T>A (p.His16Gln) | |
| X | g.71223755T>C | CA516718561 | GJB1 | c.48T>C (p.His16=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223755T>G | CA413499547 | GJB1 | c.48T>G (p.His16Gln) | ClinVar dbSNP |
| X | g.71223755T= | CA2436388109 | GJB1 | c.48T= (p.His16=) | |
| X | g.71223756T>A | CA413499552 | GJB1 | c.49T>A (p.Ser17Thr) | |
| X | g.71223756T>C | CA413499555 | GJB1 | c.49T>C (p.Ser17Pro) | |
| X | g.71223756T>G | CA413499557 | GJB1 | c.49T>G (p.Ser17Ala) | |
| X | g.71223756_71223759delinsTCTA | CA2436388110 | GJB1 | c.49_52delinsTCTA (p.Ser17=) | |
| X | g.71223757C>A | CA413499560 | GJB1 | c.50C>A (p.Ser17Tyr) | ClinVar dbSNP |
| X | g.71223757C= | CA2436388111 | GJB1 | c.50C= (p.Ser17=) | |
| X | g.71223757C>G | CA413499562 | GJB1 | c.50C>G (p.Ser17Cys) | ClinVar dbSNP |
| X | g.71223757C>T | CA413499563 | GJB1 | c.50C>T (p.Ser17Phe) | |
| X | g.71223759_71223761del | CA916081269 | GJB1 | c.52_54del (p.Thr18del) | ClinVar dbSNP |
| X | g.71223758T>A | CA516718577 | GJB1 | c.51T>A (p.Ser17=) | |
| X | g.71223758T>C | CA516718580 | GJB1 | c.51T>C (p.Ser17=) | |
| X | g.71223758T>G | CA516718582 | GJB1 | c.51T>G (p.Ser17=) | |
| X | g.71223759A= | CA2436388112 | GJB1 | c.52A= (p.Thr18=) | |
| X | g.71223759A>C | CA413500635 | GJB1 | c.52A>C (p.Thr18Pro) | |
| X | g.71223759A>G | CA413500626 | GJB1 | c.52A>G (p.Thr18Ala) | ClinVar dbSNP |
| X | g.71223759A>T | CA413500633 | GJB1 | c.52A>T (p.Thr18Ser) | ClinVar |
| X | g.71223760C>A | CA413500637 | GJB1 | c.53C>A (p.Thr18Asn) | |
| X | g.71223760C= | CA2436388113 | GJB1 | c.53C= (p.Thr18=) | |
| X | g.71223760C>G | CA413500639 | GJB1 | c.53C>G (p.Thr18Ser) | ClinVar dbSNP |
| X | g.71223760C>T | CA413500641 | GJB1 | c.53C>T (p.Thr18Ile) | |
| X | g.71223761T>A | CA516820999 | GJB1 | c.54T>A (p.Thr18=) | |
| X | g.71223761T>C | CA516821003 | GJB1 | c.54T>C (p.Thr18=) | ClinVar gnomAD v4 |
| X | g.71223761T>G | CA516821004 | GJB1 | c.54T>G (p.Thr18=) | |
| X | g.71223762G>A | CA413500644 | GJB1 | c.55G>A (p.Ala19Thr) | |
| X | g.71223762G>C | CA413500647 | GJB1 | c.55G>C (p.Ala19Pro) | |
| X | g.71223762G>T | CA413500650 | GJB1 | c.55G>T (p.Ala19Ser) | |
| X | g.71223763C>A | CA413500655 | GJB1 | c.56C>A (p.Ala19Asp) | ClinVar gnomAD v4 |
| X | g.71223763C>G | CA413500658 | GJB1 | c.56C>G (p.Ala19Gly) | |
| X | g.71223763C>T | CA413500652 | GJB1 | c.56C>T (p.Ala19Val) | |
| X | g.71223764dup | CA2695234556 | GJB1 | c.57dup (p.Ile20HisfsTer27) | |
| X | g.71223764C>A | CA516821014 | GJB1 | c.57C>A (p.Ala19=) | |
| X | g.71223764C= | CA2436388114 | GJB1 | c.57C= (p.Ala19=) | |
| X | g.71223764C>G | CA516821015 | GJB1 | c.57C>G (p.Ala19=) | |
| X | g.71223764C>T | CA10445275 | GJB1 | c.57C>T (p.Ala19=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223765A= | CA2436388115 | GJB1 | c.58A= (p.Ile20=) | |
| X | g.71223765A>C | CA413500666 | GJB1 | c.58A>C (p.Ile20Leu) | |
| X | g.71223765A>G | CA413500671 | GJB1 | c.58A>G (p.Ile20Val) | ClinVar dbSNP |
| X | g.71223765A>T | CA413500669 | GJB1 | c.58A>T (p.Ile20Phe) | ClinVar |
| X | g.71223766T>A | CA413500674 | GJB1 | c.59T>A (p.Ile20Asn) | ClinVar dbSNP |
| X | g.71223766T>C | CA413500677 | GJB1 | c.59T>C (p.Ile20Thr) | ClinVar dbSNP |
| X | g.71223766T>G | CA413500679 | GJB1 | c.59T>G (p.Ile20Ser) | ClinVar dbSNP |
| X | g.71223766T= | CA2436388116 | GJB1 | c.59T= (p.Ile20=) | |
| X | g.71223767del | CA2579640065 | GJB1 | c.60del (p.Ile20MetfsTer?) | |
| X | g.71223766_71223768delinsATA | CA2695234557 | GJB1 | c.59_61delinsATA (p.Ile20_Gly21delinsAsnSer) | |
| X | g.71223767T>A | CA516821025 | GJB1 | c.60T>A (p.Ile20=) | |
| X | g.71223767T>C | CA516821024 | GJB1 | c.60T>C (p.Ile20=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223767T>G | CA413500682 | GJB1 | c.60T>G (p.Ile20Met) | |
| X | g.71223767T= | CA2436388118 | GJB1 | c.60T= (p.Ile20=) | |
| X | g.71223767_71223768delinsTG | CA2436388117 | GJB1 | c.60_61delinsTG (p.Ile20=) |