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.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=) | |
| X | g.71223768G>A | CA413500684 | GJB1 | c.61G>A (p.Gly21Ser) | ClinVar dbSNP |
| X | g.71223768G>C | CA413500686 | GJB1 | c.61G>C (p.Gly21Arg) | |
| X | g.71223768G= | CA2436388119 | GJB1 | c.61G= (p.Gly21=) | |
| X | g.71223768G>T | CA413500687 | GJB1 | c.61G>T (p.Gly21Cys) | |
| X | g.71223769del | CA915951172 | GJB1 | c.62del (p.Gly21AlafsTer?) | ClinVar dbSNP |
| X | g.71223769G>A | CA413500689 | GJB1 | c.62G>A (p.Gly21Asp) | ClinVar dbSNP |
| X | g.71223769G>C | CA413500691 | GJB1 | c.62G>C (p.Gly21Ala) | |
| X | g.71223769G= | CA2436388120 | GJB1 | c.62G= (p.Gly21=) | |
| X | g.71223769G>T | CA413500693 | GJB1 | c.62G>T (p.Gly21Val) | ClinVar dbSNP |
| X | g.71223770C>A | CA516821033 | GJB1 | c.63C>A (p.Gly21=) | |
| X | g.71223770C>G | CA516821035 | GJB1 | c.63C>G (p.Gly21=) | |
| X | g.71223770C>T | CA516821037 | GJB1 | c.63C>T (p.Gly21=) | gnomAD v4 |
| X | g.71223771C>A | CA516821038 | GJB1 | c.64C>A (p.Arg22=) | |
| X | g.71223771C= | CA2436388121 | GJB1 | c.64C= (p.Arg22=) | |
| X | g.71223771C>G | CA413500694 | GJB1 | c.64C>G (p.Arg22Gly) | ClinVar dbSNP |
| X | g.71223771C>T | CA413500696 | GJB1 | c.64C>T (p.Arg22Ter) | ClinVar dbSNP |
| X | g.71223772G>A | CA16616533 | GJB1 | c.65G>A (p.Arg22Gln) | ClinVar dbSNP gnomAD v4 |
| X | g.71223772G>C | CA413500702 | GJB1 | c.65G>C (p.Arg22Pro) | ClinVar dbSNP |
| X | g.71223772G= | CA2436388122 | GJB1 | c.65G= (p.Arg22=) | |
| X | g.71223772G>T | CA413500700 | GJB1 | c.65G>T (p.Arg22Leu) | |
| X | g.71223773A>C | CA516821044 | GJB1 | c.66A>C (p.Arg22=) | |
| X | g.71223773A>G | CA516821046 | GJB1 | c.66A>G (p.Arg22=) | |
| X | g.71223773A>T | CA516821045 | GJB1 | c.66A>T (p.Arg22=) | |
| X | g.71223774G>A | CA413500705 | GJB1 | c.67G>A (p.Val23Ile) | |
| X | g.71223774G>C | CA413500715 | GJB1 | c.67G>C (p.Val23Leu) | |
| X | g.71223774G>T | CA413500718 | GJB1 | c.67G>T (p.Val23Leu) | |
| X | g.71223775T>A | CA413500723 | GJB1 | c.68T>A (p.Val23Glu) | ClinVar dbSNP |
| X | g.71223775T>C | CA413500724 | GJB1 | c.68T>C (p.Val23Ala) | ClinVar dbSNP |
| X | g.71223775T>G | CA413500725 | GJB1 | c.68T>G (p.Val23Gly) | |
| X | g.71223775T= | CA2436388123 | GJB1 | c.68T= (p.Val23=) | |
| X | g.71223776A= | CA2436388124 | GJB1 | c.69A= (p.Val23=) | |
| X | g.71223776A>C | CA516821054 | GJB1 | c.69A>C (p.Val23=) | |
| X | g.71223776A>G | CA10445276 | GJB1 | c.69A>G (p.Val23=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223776A>T | CA516821059 | GJB1 | c.69A>T (p.Val23=) | |
| X | g.71223777T>A | CA413500732 | GJB1 | c.70T>A (p.Trp24Arg) | |
| X | g.71223777T>C | CA413500734 | GJB1 | c.70T>C (p.Trp24Arg) | ClinVar dbSNP |
| X | g.71223777T>G | CA413500742 | GJB1 | c.70T>G (p.Trp24Gly) | |
| X | g.71223777T= | CA2436388125 | GJB1 | c.70T= (p.Trp24=) | |
| X | g.71223778G>A | CA413500748 | GJB1 | c.71G>A (p.Trp24Ter) | |
| X | g.71223778G>C | CA413500751 | GJB1 | c.71G>C (p.Trp24Ser) | |
| X | g.71223778G>T | CA413500745 | GJB1 | c.71G>T (p.Trp24Leu) | |
| X | g.71223779G>A | CA413500759 | GJB1 | c.72G>A (p.Trp24Ter) | |
| X | g.71223779G>C | CA413500761 | GJB1 | c.72G>C (p.Trp24Cys) | ClinVar dbSNP |
| X | g.71223779G= | CA2436388126 | GJB1 | c.72G= (p.Trp24=) | |
| X | g.71223779G>T | CA413500765 | GJB1 | c.72G>T (p.Trp24Cys) | ClinVar dbSNP |
| X | g.71223780C>A | CA413500770 | GJB1 | c.73C>A (p.Leu25Ile) | |
| X | g.71223780C= | CA2436388127 | GJB1 | c.73C= (p.Leu25=) | |
| X | g.71223780C>G | CA413500772 | GJB1 | c.73C>G (p.Leu25Val) | |
| X | g.71223780C>T | CA413500774 | GJB1 | c.73C>T (p.Leu25Phe) | ClinVar dbSNP |
| X | g.71223781T>A | CA413500780 | GJB1 | c.74T>A (p.Leu25His) | |
| X | g.71223781T>C | CA413500781 | GJB1 | c.74T>C (p.Leu25Pro) | ClinVar dbSNP |
| X | g.71223781T>G | CA413500784 | GJB1 | c.74T>G (p.Leu25Arg) | |
| X | g.71223781T= | CA2436388128 | GJB1 | c.74T= (p.Leu25=) | |
| X | g.71223782C>A | CA516821065 | GJB1 | c.75C>A (p.Leu25=) | |
| X | g.71223782C= | CA2436388129 | GJB1 | c.75C= (p.Leu25=) | |
| X | g.71223782C>G | CA516821068 | GJB1 | c.75C>G (p.Leu25=) | ClinVar dbSNP |
| X | g.71223782C>T | CA516821069 | GJB1 | c.75C>T (p.Leu25=) | COSMIC |
| X | g.71223783T>A | CA413500789 | GJB1 | c.76T>A (p.Ser26Thr) | |
| X | g.71223783T>C | CA413500791 | GJB1 | c.76T>C (p.Ser26Pro) | |
| X | g.71223783T>G | CA413500795 | GJB1 | c.76T>G (p.Ser26Ala) | |
| X | g.71223783_71223784delinsTC | CA2436388130 | GJB1 | c.76_77delinsTC (p.Ser26=) | |
| X | g.71223784del | CA915951173 | GJB1 | c.77del (p.Ser26TrpfsTer?) | ClinVar dbSNP |
| X | g.71223784C>A | CA413500798 | GJB1 | c.77C>A (p.Ser26Ter) | ClinVar dbSNP |
| X | g.71223784C= | CA2436388131 | GJB1 | c.77C= (p.Ser26=) | |
| X | g.71223784C>G | CA413500799 | GJB1 | c.77C>G (p.Ser26Trp) | ClinVar dbSNP |
| X | g.71223784C>T | CA270646 | GJB1 | c.77C>T (p.Ser26Leu) | ClinVar dbSNP |
| X | g.71223785G>A | CA10445277 | GJB1 | c.78G>A (p.Ser26=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71223785G>C | CA516821075 | GJB1 | c.78G>C (p.Ser26=) | |
| X | g.71223785G= | CA2436388132 | GJB1 | c.78G= (p.Ser26=) | |
| X | g.71223785G>T | CA516821078 | GJB1 | c.78G>T (p.Ser26=) | |
| X | g.71223786G>A | CA413500803 | GJB1 | c.79G>A (p.Val27Ile) | |
| X | g.71223786G>C | CA413500804 | GJB1 | c.79G>C (p.Val27Leu) | |
| X | g.71223786G>T | CA413500806 | GJB1 | c.79G>T (p.Val27Phe) | |
| X | g.71223787T>A | CA413500811 | GJB1 | c.80T>A (p.Val27Asp) | COSMIC |
| X | g.71223787T>C | CA413500812 | GJB1 | c.80T>C (p.Val27Ala) | ClinVar dbSNP |
| X | g.71223787T>G | CA413500814 | GJB1 | c.80T>G (p.Val27Gly) | |
| X | g.71223787T= | CA2436388133 | GJB1 | c.80T= (p.Val27=) | |
| X | g.71223787_71223788insTCATCT | CA645608760 | GJB1 | c.80_81insTCATCT (p.Val27_Ile28insHisLeu) | COSMIC |
| X | g.71223796_71223801dup | CA2695234558 | GJB1 | c.89_94dup (p.Phe31_Arg32insIlePhe) | |
| X | g.71223788C>A | CA516821088 | GJB1 | c.81C>A (p.Val27=) | |
| X | g.71223788C= | CA2436388134 | GJB1 | c.81C= (p.Val27=) | |
| X | g.71223788C>G | CA516821086 | GJB1 | c.81C>G (p.Val27=) | |
| X | g.71223788C>T | CA516821087 | GJB1 | c.81C>T (p.Val27=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71223789A>C | CA413500818 | GJB1 | c.82A>C (p.Ile28Leu) | |
| X | g.71223789A>G | CA413500822 | GJB1 | c.82A>G (p.Ile28Val) | |
| X | g.71223789A>T | CA413500820 | GJB1 | c.82A>T (p.Ile28Phe) | |
| X | g.71223790T>A | CA337772 | GJB1 | c.83T>A (p.Ile28Asn) | ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71223790T>C | CA10584633 | GJB1 | c.83T>C (p.Ile28Thr) | ClinVar dbSNP |
| X | g.71223790T>G | CA413500825 | GJB1 | c.83T>G (p.Ile28Ser) | |
| X | g.71223790T= | CA2436388136 | GJB1 | c.83T= (p.Ile28=) | |
| X | g.71223790_71223791delinsTC | CA2436388135 | GJB1 | c.83_84delinsTC (p.Ile28=) | |
| X | g.71223791del | CA915951174 | GJB1 | c.84del (p.Phe29SerfsTer?) | ClinVar dbSNP |
| X | g.71223791C>A | CA516821093 | GJB1 | c.84C>A (p.Ile28=) | |
| X | g.71223791C>G | CA413500828 | GJB1 | c.84C>G (p.Ile28Met) | |
| X | g.71223791C>T | CA516821094 | GJB1 | c.84C>T (p.Ile28=) | |
| X | g.71223792T>A | CA413500840 | GJB1 | c.85T>A (p.Phe29Ile) | |
| X | g.71223792T>C | CA413500833 | GJB1 | c.85T>C (p.Phe29Leu) | ClinVar dbSNP |
| X | g.71223792T>G | CA413500831 | GJB1 | c.85T>G (p.Phe29Val) | |
| X | g.71223792T= | CA2436388137 | GJB1 | c.85T= (p.Phe29=) | |
| X | g.71223793T>A | CA413500843 | GJB1 | c.86T>A (p.Phe29Tyr) | |
| X | g.71223793T>C | CA413500846 | GJB1 | c.86T>C (p.Phe29Ser) | |
| X | g.71223793T>G | CA413500845 | GJB1 | c.86T>G (p.Phe29Cys) | |
| X | g.71223794C>A | CA413500848 | GJB1 | c.87C>A (p.Phe29Leu) | |
| X | g.71223794C>G | CA413500852 | GJB1 | c.87C>G (p.Phe29Leu) | |
| X | g.71223794C>T | CA516821103 | GJB1 | c.87C>T (p.Phe29=) | |
| X | g.71223795A>C | CA413500855 | GJB1 | c.88A>C (p.Ile30Leu) | gnomAD v4 |
| X | g.71223795A>G | CA413500856 | GJB1 | c.88A>G (p.Ile30Val) | |
| X | g.71223795A>T | CA413500857 | GJB1 | c.88A>T (p.Ile30Phe) | ClinVar |
| X | g.71223796T>A | CA255242 | GJB1 | c.89T>A (p.Ile30Asn) | ClinVar dbSNP |
| X | g.71223796T>C | CA413500858 | GJB1 | c.89T>C (p.Ile30Thr) | ClinVar dbSNP |
| X | g.71223796T>G | CA413500859 | GJB1 | c.89T>G (p.Ile30Ser) | |
| X | g.71223796T= | CA2436388138 | GJB1 | c.89T= (p.Ile30=) | |
| X | g.71223797C>A | CA516821109 | GJB1 | c.90C>A (p.Ile30=) | |
| X | g.71223797C>G | CA413500861 | GJB1 | c.90C>G (p.Ile30Met) | ClinVar |
| X | g.71223797C>T | CA516821111 | GJB1 | c.90C>T (p.Ile30=) | |
| X | g.71223798T>A | CA413500866 | GJB1 | c.91T>A (p.Phe31Ile) | |
| X | g.71223798T>C | CA413500869 | GJB1 | c.91T>C (p.Phe31Leu) | ClinVar dbSNP |
| X | g.71223798T>G | CA413500871 | GJB1 | c.91T>G (p.Phe31Val) | |
| X | g.71223798T= | CA2436388139 | GJB1 | c.91T= (p.Phe31=) | |
| X | g.71223799T>A | CA413500876 | GJB1 | c.92T>A (p.Phe31Tyr) | |
| X | g.71223799T>C | CA413500875 | GJB1 | c.92T>C (p.Phe31Ser) | |
| X | g.71223799T>G | CA413500874 | GJB1 | c.92T>G (p.Phe31Cys) | ClinVar dbSNP |
| X | g.71223800C>A | CA413500877 | GJB1 | c.93C>A (p.Phe31Leu) | |
| X | g.71223800C= | CA2436388140 | GJB1 | c.93C= (p.Phe31=) | |
| X | g.71223800C>G | CA413500878 | GJB1 | c.93C>G (p.Phe31Leu) | |
| X | g.71223800C>T | CA516821118 | GJB1 | c.93C>T (p.Phe31=) | ClinVar dbSNP |
| X | g.71223801A= | CA2436388141 | GJB1 | c.94A= (p.Arg32=) | |
| X | g.71223801A>C | CA516821119 | GJB1 | c.94A>C (p.Arg32=) | |
| X | g.71223801A>G | CA413500880 | GJB1 | c.94A>G (p.Arg32Gly) | ClinVar dbSNP |
| X | g.71223801A>T | CA413500882 | GJB1 | c.94A>T (p.Arg32Ter) | |
| X | g.71223802G>A | CA413500892 | GJB1 | c.95G>A (p.Arg32Lys) | ClinVar |
| X | g.71223802G>C | CA413500894 | GJB1 | c.95G>C (p.Arg32Thr) | |
| X | g.71223802G>T | CA413500896 | GJB1 | c.95G>T (p.Arg32Ile) | |
| X | g.71223803A>C | CA413500899 | GJB1 | c.96A>C (p.Arg32Ser) | |
| X | g.71223803A>G | CA516821123 | GJB1 | c.96A>G (p.Arg32=) | gnomAD v4 |
| X | g.71223803A>T | CA413500901 | GJB1 | c.96A>T (p.Arg32Ser) | |
| X | g.71223804A>C | CA413500904 | GJB1 | c.97A>C (p.Ile33Leu) | |
| X | g.71223804A>G | CA413500907 | GJB1 | c.97A>G (p.Ile33Val) | |
| X | g.71223804A>T | CA413500913 | GJB1 | c.97A>T (p.Ile33Phe) | |
| X | g.71223805T>A | CA413500920 | GJB1 | c.98T>A (p.Ile33Asn) | ClinVar dbSNP |
| X | g.71223805T>C | CA413500918 | GJB1 | c.98T>C (p.Ile33Thr) | |
| X | g.71223805T>G | CA413500916 | GJB1 | c.98T>G (p.Ile33Ser) | |
| X | g.71223805T= | CA2436388142 | GJB1 | c.98T= (p.Ile33=) | |
| X | g.71223806C>A | CA516821125 | GJB1 | c.99C>A (p.Ile33=) | |
| X | g.71223806C= | CA2436388143 | GJB1 | c.99C= (p.Ile33=) | |
| X | g.71223806C>G | CA413500922 | GJB1 | c.99C>G (p.Ile33Met) | |
| X | g.71223806C>T | CA516821126 | GJB1 | c.99C>T (p.Ile33=) | ClinVar dbSNP |
| X | g.71223806_71223810dup | CA915951175 | GJB1 | c.99_103dup (p.Val35AlafsTer?) | ClinVar dbSNP |
| X | g.71223807A= | CA2436388144 | GJB1 | c.100A= (p.Met34=) | |
| X | g.71223807A>C | CA413500924 | GJB1 | c.100A>C (p.Met34Leu) | |
| X | g.71223807A>G | CA413500925 | GJB1 | c.100A>G (p.Met34Val) | ClinVar dbSNP |
| X | g.71223807A>T | CA413500926 | GJB1 | c.100A>T (p.Met34Leu) | |
| X | g.71223808T>A | CA413500927 | GJB1 | c.101T>A (p.Met34Lys) | ClinVar dbSNP |
| X | g.71223808T>C | CA16616534 | GJB1 | c.101T>C (p.Met34Thr) | ClinVar dbSNP |
| X | g.71223808T>G | CA413500929 | GJB1 | c.101T>G (p.Met34Arg) | |
| X | g.71223808T= | CA2436388145 | GJB1 | c.101T= (p.Met34=) | |
| X | g.71223809G>A | CA16616704 | GJB1 | c.102G>A (p.Met34Ile) | ClinVar dbSNP |
| X | g.71223809G>C | CA413500932 | GJB1 | c.102G>C (p.Met34Ile) | |
| X | g.71223809G= | CA2436388146 | GJB1 | c.102G= (p.Met34=) | |
| X | g.71223809G>T | CA413500934 | GJB1 | c.102G>T (p.Met34Ile) | |
| X | g.71223810G>A | CA413500937 | GJB1 | c.103G>A (p.Val35Met) | ClinVar dbSNP |
| X | g.71223810G>C | CA413500938 | GJB1 | c.103G>C (p.Val35Leu) | |
| X | g.71223810G= | CA2436388147 | GJB1 | c.103G= (p.Val35=) | |
| X | g.71223810G>T | CA413500939 | GJB1 | c.103G>T (p.Val35Leu) | |
| X | g.71223811T>A | CA413500943 | GJB1 | c.104T>A (p.Val35Glu) | |
| X | g.71223811T>C | CA413500940 | GJB1 | c.104T>C (p.Val35Ala) | |
| X | g.71223811T>G | CA413500941 | GJB1 | c.104T>G (p.Val35Gly) | |
| X | g.71223812G>A | CA516821134 | GJB1 | c.105G>A (p.Val35=) | gnomAD v4 |
| X | g.71223812G>C | CA516821135 | GJB1 | c.105G>C (p.Val35=) | |
| X | g.71223812G>T | CA516821137 | GJB1 | c.105G>T (p.Val35=) | |
| X | g.71223813C>A | CA413500945 | GJB1 | c.106C>A (p.Leu36Met) | |
| X | g.71223813C= | CA2436388148 | GJB1 | c.106C= (p.Leu36=) | |
| X | g.71223813C>G | CA413500946 | GJB1 | c.106C>G (p.Leu36Val) | ClinVar dbSNP |
| X | g.71223813C>T | CA516821141 | GJB1 | c.106C>T (p.Leu36=) | COSMIC |
| X | g.71223814T>A | CA413500948 | GJB1 | c.107T>A (p.Leu36Gln) | |
| X | g.71223814T>C | CA413500951 | GJB1 | c.107T>C (p.Leu36Pro) | ClinVar dbSNP |
| X | g.71223814T>G | CA413500952 | GJB1 | c.107T>G (p.Leu36Arg) | |
| X | g.71223814T= | CA2436388149 | GJB1 | c.107T= (p.Leu36=) | |
| X | g.71223815G>A | CA516821144 | GJB1 | c.108G>A (p.Leu36=) | |
| X | g.71223815G>C | CA10445278 | GJB1 | c.108G>C (p.Leu36=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71223815G= | CA2436388150 | GJB1 | c.108G= (p.Leu36=) | |
| X | g.71223815G>T | CA516821145 | GJB1 | c.108G>T (p.Leu36=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71223816G>A | CA413500955 | GJB1 | c.109G>A (p.Val37Met) | ClinVar dbSNP |
| X | g.71223816G>C | CA413500957 | GJB1 | c.109G>C (p.Val37Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71223816G= | CA2436388151 | GJB1 | c.109G= (p.Val37=) | |
| X | g.71223816G>T | CA16043599 | GJB1 | c.109G>T (p.Val37Leu) | ClinVar dbSNP |
| X | g.71223816_71223817delinsGT | CA2436388152 | GJB1 | c.109_110delinsGT (p.Val37=) |