| X | g.71224302G>A | CA10445320 | GJB1 | c.595G>A (p.Gly199Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224302G>C | CA413503253 | GJB1 | c.595G>C (p.Gly199Arg)
| ClinVar dbSNP |
| X | g.71224302G= | CA2436388479 | GJB1 | c.595G= (p.Gly199=)
| |
| X | g.71224302G>T | CA413503254 | GJB1 | c.595G>T (p.Gly199Cys)
| |
| X | g.71224303G>A | CA413503255 | GJB1 | c.596G>A (p.Gly199Asp)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224303G>C | CA413503256 | GJB1 | c.596G>C (p.Gly199Ala)
| |
| X | g.71224303G>T | CA413503257 | GJB1 | c.596G>T (p.Gly199Val)
| ClinVar gnomAD v4 |
| X | g.71224304C>A | CA516820965 | GJB1 | c.597C>A (p.Gly199=)
| |
| X | g.71224304C>G | CA516820966 | GJB1 | c.597C>G (p.Gly199=)
| |
| X | g.71224304C>T | CA516820968 | GJB1 | c.597C>T (p.Gly199=)
| gnomAD v4 |
| X | g.71224305A>C | CA413503258 | GJB1 | c.598A>C (p.Ile200Leu)
| |
| X | g.71224305A>G | CA413503259 | GJB1 | c.598A>G (p.Ile200Val)
| |
| X | g.71224305A>T | CA413503260 | GJB1 | c.598A>T (p.Ile200Phe)
| |
| X | g.71224306T>A | CA413503261 | GJB1 | c.599T>A (p.Ile200Asn)
| |
| X | g.71224306T>C | CA413503262 | GJB1 | c.599T>C (p.Ile200Thr)
| |
| X | g.71224306T>G | CA413503263 | GJB1 | c.599T>G (p.Ile200Ser)
| |
| X | g.71224307C>A | CA516820970 | GJB1 | c.600C>A (p.Ile200=)
| |
| X | g.71224307C>G | CA413503264 | GJB1 | c.600C>G (p.Ile200Met)
| |
| X | g.71224307C>T | CA516820972 | GJB1 | c.600C>T (p.Ile200=)
| |
| X | g.71224308T>A | CA413503266 | GJB1 | c.601T>A (p.Cys201Ser)
| |
| X | g.71224308T>C | CA413503267 | GJB1 | c.601T>C (p.Cys201Arg)
| ClinVar dbSNP |
| X | g.71224308T>G | CA413503265 | GJB1 | c.601T>G (p.Cys201Gly)
| ClinVar dbSNP |
| X | g.71224308T= | CA2436388481 | GJB1 | c.601T= (p.Cys201=)
| |
| X | g.71224308_71224309delinsTG | CA2436388480 | GJB1 | c.601_602delinsTG (p.Cys201=)
| |
| X | g.71224309del | CA891844223 | GJB1 | c.602del (p.Cys201SerfsTer?)
| ClinVar dbSNP |
| X | g.71224309G>A | CA413503269 | GJB1 | c.602G>A (p.Cys201Tyr)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224309G>C | CA413503268 | GJB1 | c.602G>C (p.Cys201Ser)
| ClinVar dbSNP |
| X | g.71224309G= | CA2436388482 | GJB1 | c.602G= (p.Cys201=)
| |
| X | g.71224309G>T | CA413503270 | GJB1 | c.602G>T (p.Cys201Phe)
| ClinVar dbSNP |
| X | g.71224310C>A | CA413503271 | GJB1 | c.603C>A (p.Cys201Ter)
| |
| X | g.71224310C>G | CA413503272 | GJB1 | c.603C>G (p.Cys201Trp)
| |
| X | g.71224310C>T | CA516820976 | GJB1 | c.603C>T (p.Cys201=)
| |
| X | g.71224311A>C | CA413503273 | GJB1 | c.604A>C (p.Ile202Leu)
| |
| X | g.71224311A>G | CA413503274 | GJB1 | c.604A>G (p.Ile202Val)
| |
| X | g.71224311A>T | CA413503275 | GJB1 | c.604A>T (p.Ile202Phe)
| |
| X | g.71224312T>A | CA413503276 | GJB1 | c.605T>A (p.Ile202Asn)
| ClinVar dbSNP |
| X | g.71224312T>C | CA413503277 | GJB1 | c.605T>C (p.Ile202Thr)
| |
| X | g.71224312T>G | CA413503278 | GJB1 | c.605T>G (p.Ile202Ser)
| |
| X | g.71224312T= | CA2436388484 | GJB1 | c.605T= (p.Ile202=)
| |
| X | g.71224312_71224313delinsTC | CA2436388483 | GJB1 | c.605_606delinsTC (p.Ile202=)
| |
| X | g.71224313del | CA915951215 | GJB1 | c.606del (p.Ile203SerfsTer?)
| ClinVar dbSNP |
| X | g.71224313C>A | CA516820981 | GJB1 | c.606C>A (p.Ile202=)
| |
| X | g.71224313C= | CA2436388485 | GJB1 | c.606C= (p.Ile202=)
| |
| X | g.71224313C>G | CA413503279 | GJB1 | c.606C>G (p.Ile202Met)
| |
| X | g.71224313C>T | CA516820982 | GJB1 | c.606C>T (p.Ile202=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224314A>C | CA413503280 | GJB1 | c.607A>C (p.Ile203Leu)
| |
| X | g.71224314A>G | CA413503281 | GJB1 | c.607A>G (p.Ile203Val)
| |
| X | g.71224314A>T | CA413503282 | GJB1 | c.607A>T (p.Ile203Phe)
| |
| X | g.71224315T>A | CA413503285 | GJB1 | c.608T>A (p.Ile203Asn)
| ClinVar dbSNP |
| X | g.71224315T>C | CA413503284 | GJB1 | c.608T>C (p.Ile203Thr)
| ClinVar dbSNP |
| X | g.71224315T>G | CA413503283 | GJB1 | c.608T>G (p.Ile203Ser)
| |
| X | g.71224315T= | CA2436388486 | GJB1 | c.608T= (p.Ile203=)
| |
| X | g.71224315_71224316dup | CA2695234574 | GJB1 | c.608_609dup (p.Leu204SerfsTer?)
| |
| X | g.71224316C>A | CA516820987 | GJB1 | c.609C>A (p.Ile203=)
| |
| X | g.71224316C= | CA2436388487 | GJB1 | c.609C= (p.Ile203=)
| |
| X | g.71224316C>G | CA413503286 | GJB1 | c.609C>G (p.Ile203Met)
| COSMIC |
| X | g.71224316C>T | CA516820989 | GJB1 | c.609C>T (p.Ile203=)
| dbSNP |
| X | g.71224317C>A | CA16621494 | GJB1 | c.610C>A (p.Leu204Ile)
| ClinVar dbSNP |
| X | g.71224317C= | CA2436388488 | GJB1 | c.610C= (p.Leu204=)
| |
| X | g.71224317C>G | CA413503287 | GJB1 | c.610C>G (p.Leu204Val)
| ClinVar dbSNP |
| X | g.71224317C>T | CA413503288 | GJB1 | c.610C>T (p.Leu204Phe)
| ClinVar dbSNP |
| X | g.71224318T>A | CA413503289 | GJB1 | c.611T>A (p.Leu204His)
| |
| X | g.71224318T>C | CA413503290 | GJB1 | c.611T>C (p.Leu204Pro)
| |
| X | g.71224318T>G | CA413503291 | GJB1 | c.611T>G (p.Leu204Arg)
| |
| X | g.71224319C>A | CA516820994 | GJB1 | c.612C>A (p.Leu204=)
| |
| X | g.71224319C>G | CA516820993 | GJB1 | c.612C>G (p.Leu204=)
| |
| X | g.71224319C>T | CA516820992 | GJB1 | c.612C>T (p.Leu204=)
| |
| X | g.71224320A>C | CA413503292 | GJB1 | c.613A>C (p.Asn205His)
| |
| X | g.71224320A>G | CA413503293 | GJB1 | c.613A>G (p.Asn205Asp)
| |
| X | g.71224320A>T | CA413503294 | GJB1 | c.613A>T (p.Asn205Tyr)
| |
| X | g.71224321A= | CA2436388489 | GJB1 | c.614A= (p.Asn205=)
| |
| X | g.71224321A>C | CA413503295 | GJB1 | c.614A>C (p.Asn205Thr)
| |
| X | g.71224321A>G | CA340970 | GJB1 | c.614A>G (p.Asn205Ser)
| ClinVar dbSNP |
| X | g.71224321A>T | CA413503296 | GJB1 | c.614A>T (p.Asn205Ile)
| ClinVar dbSNP |
| X | g.71224322T>A | CA413503297 | GJB1 | c.615T>A (p.Asn205Lys)
| ClinVar dbSNP |
| X | g.71224322T>C | CA516821000 | GJB1 | c.615T>C (p.Asn205=)
| dbSNP |
| X | g.71224322T>G | CA413503298 | GJB1 | c.615T>G (p.Asn205Lys)
| |
| X | g.71224322T= | CA2436388490 | GJB1 | c.615T= (p.Asn205=)
| |
| X | g.71224323G>A | CA413503299 | GJB1 | c.616G>A (p.Val206Met)
| |
| X | g.71224323G>C | CA413503300 | GJB1 | c.616G>C (p.Val206Leu)
| |
| X | g.71224323G= | CA2436388491 | GJB1 | c.616G= (p.Val206=)
| |
| X | g.71224323G>T | CA413503302 | GJB1 | c.616G>T (p.Val206Leu)
| gnomAD v4 |
| X | g.71224324T>A | CA413503304 | GJB1 | c.617T>A (p.Val206Glu)
| |
| X | g.71224324T>C | CA413503306 | GJB1 | c.617T>C (p.Val206Ala)
| |
| X | g.71224324T>G | CA413503308 | GJB1 | c.617T>G (p.Val206Gly)
| ClinVar dbSNP |
| X | g.71224324T= | CA2436388492 | GJB1 | c.617T= (p.Val206=)
| |
| X | g.71224324dup | CA915951216 | GJB1 | c.617dup (p.Ala207GlyfsTer?)
| ClinVar dbSNP |
| X | g.71224325G>A | CA516821009 | GJB1 | c.618G>A (p.Val206=)
| |
| X | g.71224325G>C | CA516821012 | GJB1 | c.618G>C (p.Val206=)
| |
| X | g.71224325G>T | CA516821010 | GJB1 | c.618G>T (p.Val206=)
| |
| X | g.71224326G>A | CA413503310 | GJB1 | c.619G>A (p.Ala207Thr)
| gnomAD v4 |
| X | g.71224326G>C | CA413503312 | GJB1 | c.619G>C (p.Ala207Pro)
| ClinVar dbSNP |
| X | g.71224326G>T | CA413503313 | GJB1 | c.619G>T (p.Ala207Ser)
| |
| X | g.71224327C>A | CA413503316 | GJB1 | c.620C>A (p.Ala207Asp)
| gnomAD v4 |
| X | g.71224327C= | CA2436388493 | GJB1 | c.620C= (p.Ala207=)
| |
| X | g.71224327C>G | CA413503318 | GJB1 | c.620C>G (p.Ala207Gly)
| |
| X | g.71224327C>T | CA10445321 | GJB1 | c.620C>T (p.Ala207Val)
| dbSNP ExAC gnomAD v4 |
| X | g.71224328C>A | CA516821016 | GJB1 | c.621C>A (p.Ala207=)
| |
| X | g.71224328C= | CA2436388494 | GJB1 | c.621C= (p.Ala207=)
| |
| X | g.71224328C>G | CA516821017 | GJB1 | c.621C>G (p.Ala207=)
| dbSNP |
| X | g.71224328C>T | CA516821018 | GJB1 | c.621C>T (p.Ala207=)
| gnomAD v4 |
| X | g.71224329del | CA2573159496 | GJB1 | c.622del (p.Glu208ArgfsTer?)
| ClinVar dbSNP |
| X | g.71224329G>A | CA413503325 | GJB1 | c.622G>A (p.Glu208Lys)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224329G>C | CA413503323 | GJB1 | c.622G>C (p.Glu208Gln)
| |
| X | g.71224329G= | CA2436388495 | GJB1 | c.622G= (p.Glu208=)
| |
| X | g.71224329G>T | CA413503321 | GJB1 | c.622G>T (p.Glu208Ter)
| |
| X | g.71224330A= | CA2436388496 | GJB1 | c.623A= (p.Glu208=)
| |
| X | g.71224330A>C | CA413503327 | GJB1 | c.623A>C (p.Glu208Ala)
| |
| X | g.71224330A>G | CA413503329 | GJB1 | c.623A>G (p.Glu208Gly)
| ClinVar dbSNP |
| X | g.71224330A>T | CA413503331 | GJB1 | c.623A>T (p.Glu208Val)
| |
| X | g.71224330_71224333delinsAGGT | CA2436388497 | GJB1 | c.623_626delinsAGGT (p.Glu208=)
| |
| X | g.71224331G>A | CA516821020 | GJB1 | c.624G>A (p.Glu208=)
| dbSNP |
| X | g.71224331G>C | CA413503333 | GJB1 | c.624G>C (p.Glu208Asp)
| |
| X | g.71224331G= | CA2436388498 | GJB1 | c.624G= (p.Glu208=)
| |
| X | g.71224331G>T | CA413503335 | GJB1 | c.624G>T (p.Glu208Asp)
| |
| X | g.71224335_71224337del | CA915951217 | GJB1 | c.628_630del (p.Val210del)
| ClinVar dbSNP |
| X | g.71224332G>A | CA413503337 | GJB1 | c.625G>A (p.Val209Met)
| |
| X | g.71224332G>C | CA413503339 | GJB1 | c.625G>C (p.Val209Leu)
| |
| X | g.71224332G= | CA2436388499 | GJB1 | c.625G= (p.Val209=)
| |
| X | g.71224332G>T | CA413503342 | GJB1 | c.625G>T (p.Val209Leu)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224333T>A | CA413503344 | GJB1 | c.626T>A (p.Val209Glu)
| |
| X | g.71224333T>C | CA413503346 | GJB1 | c.626T>C (p.Val209Ala)
| |
| X | g.71224333T>G | CA16621495 | GJB1 | c.626T>G (p.Val209Gly)
| ClinVar dbSNP |
| X | g.71224333T= | CA2436388500 | GJB1 | c.626T= (p.Val209=)
| |
| X | g.71224334G>A | CA516821026 | GJB1 | c.627G>A (p.Val209=)
| gnomAD v4 |
| X | g.71224334G>C | CA516821027 | GJB1 | c.627G>C (p.Val209=)
| |
| X | g.71224334G= | CA2436388501 | GJB1 | c.627G= (p.Val209=)
| |
| X | g.71224334G>T | CA10445322 | GJB1 | c.627G>T (p.Val209=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224335G>A | CA413503356 | GJB1 | c.628G>A (p.Val210Met)
| |
| X | g.71224335G>C | CA413503354 | GJB1 | c.628G>C (p.Val210Leu)
| |
| X | g.71224335G>T | CA413503351 | GJB1 | c.628G>T (p.Val210Leu)
| |
| X | g.71224335_71224339delinsGTGTA | CA2436388502 | GJB1 | c.628_632delinsGTGTA (p.Val210=)
| |
| X | g.71224336T>A | CA413503359 | GJB1 | c.629T>A (p.Val210Glu)
| ClinVar dbSNP |
| X | g.71224336T>C | CA413503363 | GJB1 | c.629T>C (p.Val210Ala)
| |
| X | g.71224336T>G | CA413503361 | GJB1 | c.629T>G (p.Val210Gly)
| |
| X | g.71224336T= | CA2436388503 | GJB1 | c.629T= (p.Val210=)
| |
| X | g.71224336_71224337delinsTG | CA2436388504 | GJB1 | c.629_630delinsTG (p.Val210=)
| |
| X | g.71224336_71224339del | CA915951218 | GJB1 | c.629_632del (p.Val210AlafsTer?)
| ClinVar dbSNP |
| X | g.71224337del | CA1139667647 | GJB1 | c.630del (p.Tyr211ThrfsTer?)
| ClinVar dbSNP |
| X | g.71224337G>A | CA516821031 | GJB1 | c.630G>A (p.Val210=)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224337G>C | CA516821034 | GJB1 | c.630G>C (p.Val210=)
| |
| X | g.71224337G= | CA2436388505 | GJB1 | c.630G= (p.Val210=)
| |
| X | g.71224337G>T | CA516821036 | GJB1 | c.630G>T (p.Val210=)
| |
| X | g.71224338T>A | CA413503366 | GJB1 | c.631T>A (p.Tyr211Asn)
| |
| X | g.71224338T>C | CA413503368 | GJB1 | c.631T>C (p.Tyr211His)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224338T>G | CA413503369 | GJB1 | c.631T>G (p.Tyr211Asp)
| |
| X | g.71224338T= | CA2436388506 | GJB1 | c.631T= (p.Tyr211=)
| |
| X | g.71224339A= | CA2436388507 | GJB1 | c.632A= (p.Tyr211=)
| |
| X | g.71224339A>C | CA413503373 | GJB1 | c.632A>C (p.Tyr211Ser)
| |
| X | g.71224339A>G | CA413503375 | GJB1 | c.632A>G (p.Tyr211Cys)
| ClinVar dbSNP |
| X | g.71224339A>T | CA413503377 | GJB1 | c.632A>T (p.Tyr211Phe)
| |
| X | g.71224339_71224340delinsAC | CA2436388508 | GJB1 | c.632_633delinsAC (p.Tyr211=)
| |
| X | g.71224340C>A | CA413503379 | GJB1 | c.633C>A (p.Tyr211Ter)
| ClinVar dbSNP |
| X | g.71224340C= | CA2436388509 | GJB1 | c.633C= (p.Tyr211=)
| |
| X | g.71224340C>G | CA413503381 | GJB1 | c.633C>G (p.Tyr211Ter)
| |
| X | g.71224340C>T | CA516821042 | GJB1 | c.633C>T (p.Tyr211=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224341del | CA915951219 | GJB1 | c.634del (p.Leu212SerfsTer?)
| ClinVar dbSNP |
| X | g.71224341C>A | CA413503385 | GJB1 | c.634C>A (p.Leu212Ile)
| |
| X | g.71224341C= | CA2436388510 | GJB1 | c.634C= (p.Leu212=)
| |
| X | g.71224341C>G | CA413503387 | GJB1 | c.634C>G (p.Leu212Val)
| |
| X | g.71224341C>T | CA413503389 | GJB1 | c.634C>T (p.Leu212Phe)
| ClinVar dbSNP |
| X | g.71224342T>A | CA413503396 | GJB1 | c.635T>A (p.Leu212His)
| |
| X | g.71224342T>C | CA413503394 | GJB1 | c.635T>C (p.Leu212Pro)
| |
| X | g.71224342T>G | CA413503391 | GJB1 | c.635T>G (p.Leu212Arg)
| ClinVar dbSNP |
| X | g.71224342T= | CA2436388511 | GJB1 | c.635T= (p.Leu212=)
| |
| X | g.71224347_71224349del | CA2739289597 | GJB1 | c.640_642del (p.Ile214del)
| |
| X | g.71224343C>A | CA516821047 | GJB1 | c.636C>A (p.Leu212=)
| |
| X | g.71224343C>G | CA516821048 | GJB1 | c.636C>G (p.Leu212=)
| |
| X | g.71224343C>T | CA516821050 | GJB1 | c.636C>T (p.Leu212=)
| |
| X | g.71224344A= | CA2436388512 | GJB1 | c.637A= (p.Ile213=)
| |
| X | g.71224344A>C | CA413503399 | GJB1 | c.637A>C (p.Ile213Leu)
| |
| X | g.71224344A>G | CA10445323 | GJB1 | c.637A>G (p.Ile213Val)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224344A>T | CA413503402 | GJB1 | c.637A>T (p.Ile213Phe)
| |
| X | g.71224344_71224347delinsC | CA2695234576 | GJB1 | c.637_640delinsC (p.Ile213_Ile214delinsLeu)
| |
| X | g.71224344_71224347dup | CA2695234575 | GJB1 | c.637_640dup (p.Ile214AsnfsTer30)
| |
| X | g.71224345T>A | CA413503404 | GJB1 | c.638T>A (p.Ile213Asn)
| |
| X | g.71224345T>C | CA413503405 | GJB1 | c.638T>C (p.Ile213Thr)
| |
| X | g.71224345T>G | CA413503407 | GJB1 | c.638T>G (p.Ile213Ser)
| |
| X | g.71224346C>A | CA516821056 | GJB1 | c.639C>A (p.Ile213=)
| |
| X | g.71224346C>G | CA413503410 | GJB1 | c.639C>G (p.Ile213Met)
| dbSNP gnomAD v4 |
| X | g.71224346C>T | CA516821053 | GJB1 | c.639C>T (p.Ile213=)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224347A>C | CA413503413 | GJB1 | c.640A>C (p.Ile214Leu)
| |
| X | g.71224347A>G | CA413503415 | GJB1 | c.640A>G (p.Ile214Val)
| |
| X | g.71224347A>T | CA413503416 | GJB1 | c.640A>T (p.Ile214Phe)
| |
| X | g.71224348T>A | CA413503417 | GJB1 | c.641T>A (p.Ile214Asn)
| ClinVar dbSNP |
| X | g.71224348T>C | CA413503418 | GJB1 | c.641T>C (p.Ile214Thr)
| gnomAD v4 |
| X | g.71224348T>G | CA413503419 | GJB1 | c.641T>G (p.Ile214Ser)
| |
| X | g.71224348T= | CA2436388513 | GJB1 | c.641T= (p.Ile214=)
| |
| X | g.71224348dup | CA2695234577 | GJB1 | c.641dup (p.Arg215ProfsTer28)
| |
| X | g.71224348_71224349delinsAT | CA915951220 | GJB1 | c.641_642delinsAT (p.Ile214Asn)
| ClinVar dbSNP |
| X | g.71224348_71224349delinsTC | CA2436388514 | GJB1 | c.641_642delinsTC (p.Ile214=)
| |
| X | g.71224349C>A | CA516821060 | GJB1 | c.642C>A (p.Ile214=)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224349C= | CA2436388515 | GJB1 | c.642C= (p.Ile214=)
| |
| X | g.71224349C>G | CA413503420 | GJB1 | c.642C>G (p.Ile214Met)
| |
| X | g.71224349C>T | CA10445324 | GJB1 | c.642C>T (p.Ile214=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224350C>A | CA516821061 | GJB1 | c.643C>A (p.Arg215=)
| |
| X | g.71224350C= | CA2436388516 | GJB1 | c.643C= (p.Arg215=)
| |
| X | g.71224350C>G | CA413503421 | GJB1 | c.643C>G (p.Arg215Gly)
| |
| X | g.71224350C>T | CA10584644 | GJB1 | c.643C>T (p.Arg215Trp)
| ClinVar dbSNP |
| X | g.71224351G>A | CA413503422 | GJB1 | c.644G>A (p.Arg215Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224351G>C | CA349245 | GJB1 | c.644G>C (p.Arg215Pro)
| ClinVar dbSNP |
| X | g.71224351G= | CA2436388517 | GJB1 | c.644G= (p.Arg215=)
| |
| X | g.71224351G>T | CA413503423 | GJB1 | c.644G>T (p.Arg215Leu)
| |
| X | g.71224352G>A | CA516821062 | GJB1 | c.645G>A (p.Arg215=)
| |
| X | g.71224352G>C | CA516821064 | GJB1 | c.645G>C (p.Arg215=)
| |
| X | g.71224352G>T | CA516821063 | GJB1 | c.645G>T (p.Arg215=)
| |
| X | g.71224353G>A | CA413503424 | GJB1 | c.646G>A (p.Ala216Thr)
| ClinVar dbSNP |
| X | g.71224353G>C | CA413503425 | GJB1 | c.646G>C (p.Ala216Pro)
| |
| X | g.71224353G>T | CA413503426 | GJB1 | c.646G>T (p.Ala216Ser)
| |
| X | g.71224354C>A | CA413503427 | GJB1 | c.647C>A (p.Ala216Asp)
| |
| X | g.71224354C>G | CA413503428 | GJB1 | c.647C>G (p.Ala216Gly)
| |
| X | g.71224354C>T | CA413503429 | GJB1 | c.647C>T (p.Ala216Val)
| dbSNP |
| X | g.71224355C>A | CA516821066 | GJB1 | c.648C>A (p.Ala216=)
| |
| X | g.71224355C= | CA2436388518 | GJB1 | c.648C= (p.Ala216=)
| |
| X | g.71224355C>G | CA516821067 | GJB1 | c.648C>G (p.Ala216=)
| |
| X | g.71224355C>T | CA10445325 | GJB1 | c.648C>T (p.Ala216=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224356T>A | CA413503431 | GJB1 | c.649T>A (p.Cys217Ser)
| |
| X | g.71224356T>C | CA413503432 | GJB1 | c.649T>C (p.Cys217Arg)
| gnomAD v4 |
| X | g.71224356T>G | CA413503430 | GJB1 | c.649T>G (p.Cys217Gly)
| |
| X | g.71224357G>A | CA413503433 | GJB1 | c.650G>A (p.Cys217Tyr)
| gnomAD v4 |
| X | g.71224357G>C | CA413503434 | GJB1 | c.650G>C (p.Cys217Ser)
| |
| X | g.71224357G>T | CA413503435 | GJB1 | c.650G>T (p.Cys217Phe)
| |
| X | g.71224358T>A | CA413503436 | GJB1 | c.651T>A (p.Cys217Ter)
| ClinVar dbSNP |
| X | g.71224358T>C | CA516821071 | GJB1 | c.651T>C (p.Cys217=)
| gnomAD v4 |
| X | g.71224358T>G | CA413503437 | GJB1 | c.651T>G (p.Cys217Trp)
| |
| X | g.71224358T= | CA2436388519 | GJB1 | c.651T= (p.Cys217=)
| |
| X | g.71224359G>A | CA413503440 | GJB1 | c.652G>A (p.Ala218Thr)
| dbSNP |
| X | g.71224359G>C | CA413503438 | GJB1 | c.652G>C (p.Ala218Pro)
| |
| X | g.71224359G= | CA2436388520 | GJB1 | c.652G= (p.Ala218=)
| |
| X | g.71224359G>T | CA413503439 | GJB1 | c.652G>T (p.Ala218Ser)
| |
| X | g.71224362_71224377dup | CA2739289598 | GJB1 | c.655_670dup (p.Arg224ProfsTer24)
| |
| X | g.71224362_71224377del | CA2697553171 | GJB1 | c.655_670del (p.Arg219AlafsTer29)
| ClinVar |
| X | g.71224360C>A | CA413503441 | GJB1 | c.653C>A (p.Ala218Asp)
| |
| X | g.71224360C= | CA2436388521 | GJB1 | c.653C= (p.Ala218=)
| |
| X | g.71224360C>G | CA413503442 | GJB1 | c.653C>G (p.Ala218Gly)
| |
| X | g.71224360C>T | CA413503443 | GJB1 | c.653C>T (p.Ala218Val)
| dbSNP gnomAD v4 |
| X | g.71224361C>A | CA516821073 | GJB1 | c.654C>A (p.Ala218=)
| |
| X | g.71224361C>G | CA516821074 | GJB1 | c.654C>G (p.Ala218=)
| |
| X | g.71224361C>T | CA516821076 | GJB1 | c.654C>T (p.Ala218=)
| |
| X | g.71224362C>A | CA10445326 | GJB1 | c.655C>A (p.Arg219Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224362C= | CA2436388522 | GJB1 | c.655C= (p.Arg219=)
| |
| X | g.71224362C>G | CA413503444 | GJB1 | c.655C>G (p.Arg219Gly)
| |
| X | g.71224362C>T | CA10445327 | GJB1 | c.655C>T (p.Arg219Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224363G>A | CA330997824 | GJB1 | c.656G>A (p.Arg219His)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224363G>C | CA413503446 | GJB1 | c.656G>C (p.Arg219Pro)
| |
| X | g.71224363G= | CA2436388523 | GJB1 | c.656G= (p.Arg219=)
| |
| X | g.71224363G>T | CA413503445 | GJB1 | c.656G>T (p.Arg219Leu)
| |
| X | g.71224364C>A | CA516821079 | GJB1 | c.657C>A (p.Arg219=)
| |
| X | g.71224364C>G | CA516821080 | GJB1 | c.657C>G (p.Arg219=)
| |
| X | g.71224364C>T | CA516821082 | GJB1 | c.657C>T (p.Arg219=)
| |
| X | g.71224365dup | CA2695234578 | GJB1 | c.658dup (p.Arg220ProfsTer23)
| |
| X | g.71224365C>A | CA516821084 | GJB1 | c.658C>A (p.Arg220=)
| gnomAD v4 |
| X | g.71224365C= | CA2436388524 | GJB1 | c.658C= (p.Arg220=)
| |
| X | g.71224365C>G | CA330997827 | GJB1 | c.658C>G (p.Arg220Gly)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224365C>T | CA255238 | GJB1 | c.658C>T (p.Arg220Ter)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224366G>A | CA16608986 | GJB1 | c.659G>A (p.Arg220Gln)
| ClinVar dbSNP gnomAD v4 |
| X | g.71224366G>C | CA413503447 | GJB1 | c.659G>C (p.Arg220Pro)
| |
| X | g.71224366G= | CA2436388525 | GJB1 | c.659G= (p.Arg220=)
| |
| X | g.71224366G>T | CA413503448 | GJB1 | c.659G>T (p.Arg220Leu)
| gnomAD v4 |
| X | g.71224367A= | CA2436388526 | GJB1 | c.660A= (p.Arg220=)
| |
| X | g.71224367A>C | CA516821092 | GJB1 | c.660A>C (p.Arg220=)
| |
| X | g.71224367A>G | CA516821090 | GJB1 | c.660A>G (p.Arg220=)
| |
| X | g.71224367A>T | CA516821089 | GJB1 | c.660A>T (p.Arg220=)
| dbSNP |
| X | g.71224368G>A | CA413503449 | GJB1 | c.661G>A (p.Ala221Thr)
| |
| X | g.71224368G>C | CA413503450 | GJB1 | c.661G>C (p.Ala221Pro)
| |
| X | g.71224368G>T | CA413503451 | GJB1 | c.661G>T (p.Ala221Ser)
| |
| X | g.71224369C>A | CA413503452 | GJB1 | c.662C>A (p.Ala221Asp)
| |
| X | g.71224369C>G | CA413503453 | GJB1 | c.662C>G (p.Ala221Gly)
| |
| X | g.71224369C>T | CA413503454 | GJB1 | c.662C>T (p.Ala221Val)
| dbSNP |
| X | g.71224370C>A | CA516821097 | GJB1 | c.663C>A (p.Ala221=)
| |
| X | g.71224370C= | CA2436388527 | GJB1 | c.663C= (p.Ala221=)
| |
| X | g.71224370C>G | CA516821098 | GJB1 | c.663C>G (p.Ala221=)
| |
| X | g.71224370C>T | CA516821100 | GJB1 | c.663C>T (p.Ala221=)
| dbSNP gnomAD v4 |
| X | g.71224371C>A | CA413503455 | GJB1 | c.664C>A (p.Gln222Lys)
| |
| X | g.71224371C>G | CA413503456 | GJB1 | c.664C>G (p.Gln222Glu)
| |
| X | g.71224371C>T | CA413503457 | GJB1 | c.664C>T (p.Gln222Ter)
| |
| X | g.71224372A>C | CA413503458 | GJB1 | c.665A>C (p.Gln222Pro)
| |
| X | g.71224372A>G | CA413503459 | GJB1 | c.665A>G (p.Gln222Arg)
| |
| X | g.71224372A>T | CA413503460 | GJB1 | c.665A>T (p.Gln222Leu)
| |
| X | g.71224373G>A | CA516821101 | GJB1 | c.666G>A (p.Gln222=)
| |
| X | g.71224373G>C | CA413503462 | GJB1 | c.666G>C (p.Gln222His)
| |
| X | g.71224373G>T | CA413503461 | GJB1 | c.666G>T (p.Gln222His)
| |
| X | g.71224374C>A | CA413503463 | GJB1 | c.667C>A (p.Arg223Ser)
| |
| X | g.71224374C= | CA2436388528 | GJB1 | c.667C= (p.Arg223=)
| |
| X | g.71224374C>G | CA10445328 | GJB1 | c.667C>G (p.Arg223Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224374C>T | CA413503464 | GJB1 | c.667C>T (p.Arg223Cys)
| gnomAD v4 |
| X | g.71224375_71224382del | CA2739273579 | GJB1 | c.668_675del (p.Arg223GlnfsTer17)
| ClinVar |
| X | g.71224375G>A | CA413503465 | GJB1 | c.668G>A (p.Arg223His)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224375G>C | CA413503466 | GJB1 | c.668G>C (p.Arg223Pro)
| |
| X | g.71224375G= | CA2436388529 | GJB1 | c.668G= (p.Arg223=)
| |
| X | g.71224375G>T | CA413503467 | GJB1 | c.668G>T (p.Arg223Leu)
| gnomAD v4 |
| X | g.71224376C>A | CA516821104 | GJB1 | c.669C>A (p.Arg223=)
| |
| X | g.71224376C>G | CA516821106 | GJB1 | c.669C>G (p.Arg223=)
| |
| X | g.71224376C>T | CA516821107 | GJB1 | c.669C>T (p.Arg223=)
| |
| X | g.71224377C>A | CA413503468 | GJB1 | c.670C>A (p.Arg224Ser)
| gnomAD v4 |
| X | g.71224377C= | CA2436388530 | GJB1 | c.670C= (p.Arg224=)
| |
| X | g.71224377C>G | CA413503469 | GJB1 | c.670C>G (p.Arg224Gly)
| |
| X | g.71224377C>T | CA413503470 | GJB1 | c.670C>T (p.Arg224Cys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224378G>A | CA10445329 | GJB1 | c.671G>A (p.Arg224His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224378G>C | CA413503471 | GJB1 | c.671G>C (p.Arg224Pro)
| |
| X | g.71224378G= | CA2436388531 | GJB1 | c.671G= (p.Arg224=)
| |
| X | g.71224378G>T | CA413503472 | GJB1 | c.671G>T (p.Arg224Leu)
| gnomAD v4 |
| X | g.71224379C>A | CA516821115 | GJB1 | c.672C>A (p.Arg224=)
| |
| X | g.71224379C>G | CA516821112 | GJB1 | c.672C>G (p.Arg224=)
| |
| X | g.71224379C>T | CA516821113 | GJB1 | c.672C>T (p.Arg224=)
| gnomAD v4 |
| X | g.71224380T>A | CA413503475 | GJB1 | c.673T>A (p.Ser225Thr)
| |
| X | g.71224380T>C | CA413503474 | GJB1 | c.673T>C (p.Ser225Pro)
| |
| X | g.71224380T>G | CA413503473 | GJB1 | c.673T>G (p.Ser225Ala)
| |
| X | g.71224381C>A | CA413503476 | GJB1 | c.674C>A (p.Ser225Tyr)
| |
| X | g.71224381C>G | CA413503477 | GJB1 | c.674C>G (p.Ser225Cys)
| |
| X | g.71224381C>T | CA413503478 | GJB1 | c.674C>T (p.Ser225Phe)
| |
| X | g.71224382C>A | CA516821120 | GJB1 | c.675C>A (p.Ser225=)
| |
| X | g.71224382C= | CA2436388532 | GJB1 | c.675C= (p.Ser225=)
| |
| X | g.71224382C>G | CA516821121 | GJB1 | c.675C>G (p.Ser225=)
| |
| X | g.71224382C>T | CA10445330 | GJB1 | c.675C>T (p.Ser225=)
| ClinVar dbSNP ExAC gnomAD v2 |
| X | g.71224383A>C | CA413503482 | GJB1 | c.676A>C (p.Asn226His)
| |
| X | g.71224383A>G | CA413503485 | GJB1 | c.676A>G (p.Asn226Asp)
| |
| X | g.71224383A>T | CA413503486 | GJB1 | c.676A>T (p.Asn226Tyr)
| |
| X | g.71224384A= | CA2436388533 | GJB1 | c.677A= (p.Asn226=)
| |
| X | g.71224384A>C | CA413503490 | GJB1 | c.677A>C (p.Asn226Thr)
| |
| X | g.71224384A>G | CA10445331 | GJB1 | c.677A>G (p.Asn226Ser)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224384A>T | CA413503492 | GJB1 | c.677A>T (p.Asn226Ile)
| |
| X | g.71224385T>A | CA413503495 | GJB1 | c.678T>A (p.Asn226Lys)
| |
| X | g.71224385T>C | CA516821124 | GJB1 | c.678T>C (p.Asn226=)
| |
| X | g.71224385T>G | CA413503498 | GJB1 | c.678T>G (p.Asn226Lys)
| |
| X | g.71224386C>A | CA413503505 | GJB1 | c.679C>A (p.Pro227Thr)
| |
| X | g.71224386C>G | CA413503503 | GJB1 | c.679C>G (p.Pro227Ala)
| |
| X | g.71224386C>T | CA413503501 | GJB1 | c.679C>T (p.Pro227Ser)
| |
| X | g.71224386_71224387insA | CA2821723788 | GJB1 | c.679_680insA (p.Pro227HisfsTer16)
| |
| X | g.71224387C>A | CA413503508 | GJB1 | c.680C>A (p.Pro227Gln)
| |
| X | g.71224387C= | CA2436388534 | GJB1 | c.680C= (p.Pro227=)
| |
| X | g.71224387C>G | CA413503509 | GJB1 | c.680C>G (p.Pro227Arg)
| |
| X | g.71224387C>T | CA413503512 | GJB1 | c.680C>T (p.Pro227Leu)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224388A= | CA2436388535 | GJB1 | c.681A= (p.Pro227=)
| |
| X | g.71224388A>C | CA516821128 | GJB1 | c.681A>C (p.Pro227=)
| |
| X | g.71224388A>G | CA516821129 | GJB1 | c.681A>G (p.Pro227=)
| dbSNP |
| X | g.71224388A>T | CA516821130 | GJB1 | c.681A>T (p.Pro227=)
| ClinVar dbSNP |
| X | g.71224389C>A | CA413503514 | GJB1 | c.682C>A (p.Pro228Thr)
| |
| X | g.71224389C= | CA2436388536 | GJB1 | c.682C= (p.Pro228=)
| |
| X | g.71224389C>G | CA413503516 | GJB1 | c.682C>G (p.Pro228Ala)
| |
| X | g.71224389C>T | CA413503518 | GJB1 | c.682C>T (p.Pro228Ser)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224390C>A | CA413503521 | GJB1 | c.683C>A (p.Pro228His)
| |
| X | g.71224390C>G | CA413503523 | GJB1 | c.683C>G (p.Pro228Arg)
| |
| X | g.71224390C>T | CA413503525 | GJB1 | c.683C>T (p.Pro228Leu)
| |
| X | g.71224391T>A | CA516821131 | GJB1 | c.684T>A (p.Pro228=)
| |
| X | g.71224391T>C | CA516821132 | GJB1 | c.684T>C (p.Pro228=)
| dbSNP |
| X | g.71224391T>G | CA516821133 | GJB1 | c.684T>G (p.Pro228=)
| |
| X | g.71224391T= | CA2436388537 | GJB1 | c.684T= (p.Pro228=)
| |
| X | g.71224391_71224396del | CA2821723790 | GJB1 | c.684_689del (p.Ser229_Arg230del)
| |
| X | g.71224392T>A | CA413503527 | GJB1 | c.685T>A (p.Ser229Thr)
| |
| X | g.71224392T>C | CA413503529 | GJB1 | c.685T>C (p.Ser229Pro)
| |
| X | g.71224392T>G | CA413503531 | GJB1 | c.685T>G (p.Ser229Ala)
| |
| X | g.71224393C>A | CA413503537 | GJB1 | c.686C>A (p.Ser229Tyr)
| |
| X | g.71224393C= | CA2436388538 | GJB1 | c.686C= (p.Ser229=)
| |
| X | g.71224393C>G | CA413503535 | GJB1 | c.686C>G (p.Ser229Cys)
| dbSNP gnomAD v4 |
| X | g.71224393C>T | CA10445332 | GJB1 | c.686C>T (p.Ser229Phe)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224395del | CA2509121782 | GJB1 | c.688del (p.Arg230AlafsTer23)
| |
| X | g.71224394C>A | CA516821140 | GJB1 | c.687C>A (p.Ser229=)
| |
| X | g.71224394C>G | CA516821142 | GJB1 | c.687C>G (p.Ser229=)
| |
| X | g.71224394C>T | CA516821143 | GJB1 | c.687C>T (p.Ser229=)
| |
| X | g.71224395C>A | CA413503541 | GJB1 | c.688C>A (p.Arg230Ser)
| |
| X | g.71224395C= | CA2436388539 | GJB1 | c.688C= (p.Arg230=)
| |
| X | g.71224395C>G | CA413503544 | GJB1 | c.688C>G (p.Arg230Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| X | g.71224395C>T | CA270921 | GJB1 | c.688C>T (p.Arg230Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224396G>A | CA10445333 | GJB1 | c.689G>A (p.Arg230His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224396G>C | CA413503549 | GJB1 | c.689G>C (p.Arg230Pro)
| |
| X | g.71224396G= | CA2436388540 | GJB1 | c.689G= (p.Arg230=)
| |
| X | g.71224396G>T | CA330997840 | GJB1 | c.689G>T (p.Arg230Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224397C>A | CA516821148 | GJB1 | c.690C>A (p.Arg230=)
| |
| X | g.71224397C>G | CA516821149 | GJB1 | c.690C>G (p.Arg230=)
| |
| X | g.71224397C>T | CA516821150 | GJB1 | c.690C>T (p.Arg230=)
| |
| X | g.71224398A>C | CA413503552 | GJB1 | c.691A>C (p.Lys231Gln)
| |
| X | g.71224398A>G | CA413503553 | GJB1 | c.691A>G (p.Lys231Glu)
| |
| X | g.71224398A>T | CA413503554 | GJB1 | c.691A>T (p.Lys231Ter)
| |
| X | g.71224399A>C | CA413503556 | GJB1 | c.692A>C (p.Lys231Thr)
| |
| X | g.71224399A>G | CA413503558 | GJB1 | c.692A>G (p.Lys231Arg)
| gnomAD v4 |
| X | g.71224399A>T | CA413503560 | GJB1 | c.692A>T (p.Lys231Met)
| |
| X | g.71224400G>A | CA330997842 | GJB1 | c.693G>A (p.Lys231=)
| dbSNP gnomAD v4 |
| X | g.71224400G>C | CA413503563 | GJB1 | c.693G>C (p.Lys231Asn)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224400G= | CA2436388541 | GJB1 | c.693G= (p.Lys231=)
| |
| X | g.71224400G>T | CA413503565 | GJB1 | c.693G>T (p.Lys231Asn)
| |
| X | g.71224401G>A | CA413503571 | GJB1 | c.694G>A (p.Gly232Ser)
| |
| X | g.71224401G>C | CA413503567 | GJB1 | c.694G>C (p.Gly232Arg)
| |
| X | g.71224401G>T | CA413503569 | GJB1 | c.694G>T (p.Gly232Cys)
| |
| X | g.71224402G>A | CA413503573 | GJB1 | c.695G>A (p.Gly232Asp)
| |
| X | g.71224402G>C | CA413503575 | GJB1 | c.695G>C (p.Gly232Ala)
| |
| X | g.71224402G>T | CA413503577 | GJB1 | c.695G>T (p.Gly232Val)
| gnomAD v4 |
