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.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 |
| X | g.71224403C>A | CA516821163 | GJB1 | c.696C>A (p.Gly232=) | |
| X | g.71224403C>G | CA516821164 | GJB1 | c.696C>G (p.Gly232=) | |
| X | g.71224403C>T | CA516821165 | GJB1 | c.696C>T (p.Gly232=) | COSMIC |
| X | g.71224404T>A | CA413503578 | GJB1 | c.697T>A (p.Ser233Thr) | |
| X | g.71224404T>C | CA413503581 | GJB1 | c.697T>C (p.Ser233Pro) | |
| X | g.71224404T>G | CA413503582 | GJB1 | c.697T>G (p.Ser233Ala) | |
| X | g.71224405C>A | CA413503586 | GJB1 | c.698C>A (p.Ser233Ter) | gnomAD v4 |
| X | g.71224405C= | CA2436388542 | GJB1 | c.698C= (p.Ser233=) | |
| X | g.71224405C>G | CA413503588 | GJB1 | c.698C>G (p.Ser233Trp) | |
| X | g.71224405C>T | CA10445334 | GJB1 | c.698C>T (p.Ser233Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.71224405_71224406insAGG | CA2579640067 | GJB1 | c.698_699insAGG (p.Ser233_Gly234insGly) | |
| X | g.71224405_71224406insCGG | CA2436388544 | GJB1 | c.698_699insCGG (p.Ser233_Gly234insGly) | dbSNP |
| X | g.71224406G>A | CA516821172 | GJB1 | c.699G>A (p.Ser233=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224406G>C | CA516821173 | GJB1 | c.699G>C (p.Ser233=) | ClinVar |
| X | g.71224406G= | CA2436388543 | GJB1 | c.699G= (p.Ser233=) | |
| X | g.71224406G>T | CA10445335 | GJB1 | c.699G>T (p.Ser233=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224406_71224408dup | CA2508788277 | GJB1 | c.699_701dup (p.Gly234_Phe235insGly) | |
| X | g.71224407G>A | CA413503596 | GJB1 | c.700G>A (p.Gly234Ser) | dbSNP |
| X | g.71224407G>C | CA413503599 | GJB1 | c.700G>C (p.Gly234Arg) | |
| X | g.71224407G>T | CA413503594 | GJB1 | c.700G>T (p.Gly234Cys) | |
| X | g.71224408G>A | CA413503602 | GJB1 | c.701G>A (p.Gly234Asp) | |
| X | g.71224408G>C | CA413503604 | GJB1 | c.701G>C (p.Gly234Ala) | |
| X | g.71224408G>T | CA413503606 | GJB1 | c.701G>T (p.Gly234Val) | gnomAD v4 |
| X | g.71224409C>A | CA516821178 | GJB1 | c.702C>A (p.Gly234=) | |
| X | g.71224409C>G | CA516821179 | GJB1 | c.702C>G (p.Gly234=) | |
| X | g.71224409C>T | CA516821180 | GJB1 | c.702C>T (p.Gly234=) | ClinVar |
| X | g.71224410T>A | CA413503609 | GJB1 | c.703T>A (p.Phe235Ile) | |
| X | g.71224410T>C | CA413503610 | GJB1 | c.703T>C (p.Phe235Leu) | |
| X | g.71224410T>G | CA413503612 | GJB1 | c.703T>G (p.Phe235Val) | |
| X | g.71224411T>A | CA413503614 | GJB1 | c.704T>A (p.Phe235Tyr) | |
| X | g.71224411T>C | CA413503616 | GJB1 | c.704T>C (p.Phe235Ser) | |
| X | g.71224411T>G | CA340976 | GJB1 | c.704T>G (p.Phe235Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224411T= | CA2436388545 | GJB1 | c.704T= (p.Phe235=) | |
| X | g.71224412C>A | CA413503620 | GJB1 | c.705C>A (p.Phe235Leu) | ClinVar dbSNP gnomAD v4 |
| X | g.71224412C= | CA2436388546 | GJB1 | c.705C= (p.Phe235=) | |
| X | g.71224412C>G | CA413503623 | GJB1 | c.705C>G (p.Phe235Leu) | |
| X | g.71224412C>T | CA10445336 | GJB1 | c.705C>T (p.Phe235=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224413G>A | CA413503628 | GJB1 | c.706G>A (p.Gly236Ser) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224413G>C | CA413503631 | GJB1 | c.706G>C (p.Gly236Arg) | |
| X | g.71224413G= | CA2436388547 | GJB1 | c.706G= (p.Gly236=) | |
| X | g.71224413G>T | CA413503627 | GJB1 | c.706G>T (p.Gly236Cys) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224414G>A | CA413503633 | GJB1 | c.707G>A (p.Gly236Asp) | |
| X | g.71224414G>C | CA413503635 | GJB1 | c.707G>C (p.Gly236Ala) | |
| X | g.71224414G>T | CA413503637 | GJB1 | c.707G>T (p.Gly236Val) | |
| X | g.71224415C>A | CA516821184 | GJB1 | c.708C>A (p.Gly236=) | gnomAD v4 |
| X | g.71224415C= | CA2436388548 | GJB1 | c.708C= (p.Gly236=) | |
| X | g.71224415C>G | CA516821185 | GJB1 | c.708C>G (p.Gly236=) | |
| X | g.71224415C>T | CA516821186 | GJB1 | c.708C>T (p.Gly236=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224416C>A | CA413503639 | GJB1 | c.709C>A (p.His237Asn) | |
| X | g.71224416C>G | CA413503642 | GJB1 | c.709C>G (p.His237Asp) | |
| X | g.71224416C>T | CA413503644 | GJB1 | c.709C>T (p.His237Tyr) | gnomAD v4 |
| X | g.71224417A>C | CA413503647 | GJB1 | c.710A>C (p.His237Pro) | |
| X | g.71224417A>G | CA413503650 | GJB1 | c.710A>G (p.His237Arg) | |
| X | g.71224417A>T | CA413503648 | GJB1 | c.710A>T (p.His237Leu) | |
| X | g.71224418C>A | CA413503652 | GJB1 | c.711C>A (p.His237Gln) | |
| X | g.71224418C>G | CA413503654 | GJB1 | c.711C>G (p.His237Gln) | gnomAD v4 |
| X | g.71224418C>T | CA516821189 | GJB1 | c.711C>T (p.His237=) | ClinVar gnomAD v4 |
| X | g.71224419C>A | CA413503656 | GJB1 | c.712C>A (p.Arg238Ser) | gnomAD v4 |
| X | g.71224419C= | CA2436388549 | GJB1 | c.712C= (p.Arg238=) | |
| X | g.71224419C>G | CA413503658 | GJB1 | c.712C>G (p.Arg238Gly) | |
| X | g.71224419C>T | CA10445337 | GJB1 | c.712C>T (p.Arg238Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>A | CA10445338 | GJB1 | c.713G>A (p.Arg238His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.71224420G>C | CA413503666 | GJB1 | c.713G>C (p.Arg238Pro) | |
| X | g.71224420G= | CA2436388550 | GJB1 | c.713G= (p.Arg238=) | |
| X | g.71224420G>T | CA413503663 | GJB1 | c.713G>T (p.Arg238Leu) | ClinVar dbSNP |
| X | g.71224421C>A | CA516821193 | GJB1 | c.714C>A (p.Arg238=) | |
| X | g.71224421C>G | CA516821192 | GJB1 | c.714C>G (p.Arg238=) | |
| X | g.71224421C>T | CA516821191 | GJB1 | c.714C>T (p.Arg238=) | |
| X | g.71224422C>A | CA413503669 | GJB1 | c.715C>A (p.Leu239Ile) | ClinVar dbSNP |
| X | g.71224422C= | CA2436388551 | GJB1 | c.715C= (p.Leu239=) | |
| X | g.71224422C>G | CA413503668 | GJB1 | c.715C>G (p.Leu239Val) | |
| X | g.71224422C>T | CA413503670 | GJB1 | c.715C>T (p.Leu239Phe) | gnomAD v4 |
| X | g.71224423T>A | CA413503674 | GJB1 | c.716T>A (p.Leu239His) | |
| X | g.71224423T>C | CA10445339 | GJB1 | c.716T>C (p.Leu239Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71224423T>G | CA413503678 | GJB1 | c.716T>G (p.Leu239Arg) | |
| X | g.71224423T= | CA2436388552 | GJB1 | c.716T= (p.Leu239=) | |
| X | g.71224424C>A | CA516821198 | GJB1 | c.717C>A (p.Leu239=) | |
| X | g.71224424C>G | CA516821196 | GJB1 | c.717C>G (p.Leu239=) | ClinVar dbSNP |
| X | g.71224424C>T | CA516821194 | GJB1 | c.717C>T (p.Leu239=) |