| X | g.71224347_71224349del | CA2739289597 | GJB1 | c.640_642del (p.Ile214del)
| |
| 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=)
| |
| X | g.71224425T>A | CA413503681 | GJB1 | c.718T>A (p.Ser240Thr)
| |
| X | g.71224425T>C | CA413503685 | GJB1 | c.718T>C (p.Ser240Pro)
| |
| X | g.71224425T>G | CA413503687 | GJB1 | c.718T>G (p.Ser240Ala)
| |
| X | g.71224426C>A | CA413503692 | GJB1 | c.719C>A (p.Ser240Ter)
| |
| X | g.71224426C>G | CA413503698 | GJB1 | c.719C>G (p.Ser240Ter)
| |
| X | g.71224426C>T | CA413503701 | GJB1 | c.719C>T (p.Ser240Leu)
| ClinVar dbSNP |
| X | g.71224427A= | CA2436388553 | GJB1 | c.720A= (p.Ser240=)
| |
| X | g.71224427A>C | CA516821200 | GJB1 | c.720A>C (p.Ser240=)
| |
| X | g.71224427A>G | CA516821203 | GJB1 | c.720A>G (p.Ser240=)
| dbSNP |
| X | g.71224427A>T | CA516821201 | GJB1 | c.720A>T (p.Ser240=)
| |
| X | g.71224428C>A | CA413503705 | GJB1 | c.721C>A (p.Pro241Thr)
| |
| X | g.71224428C>G | CA413503707 | GJB1 | c.721C>G (p.Pro241Ala)
| |
| X | g.71224428C>T | CA413503710 | GJB1 | c.721C>T (p.Pro241Ser)
| |
| X | g.71224429C>A | CA413503720 | GJB1 | c.722C>A (p.Pro241His)
| |
| X | g.71224429C>G | CA413503715 | GJB1 | c.722C>G (p.Pro241Arg)
| |
| X | g.71224429C>T | CA413503717 | GJB1 | c.722C>T (p.Pro241Leu)
| |
| X | g.71224430T>A | CA516821204 | GJB1 | c.723T>A (p.Pro241=)
| |
| X | g.71224430T>C | CA516821205 | GJB1 | c.723T>C (p.Pro241=)
| |
| X | g.71224430T>G | CA516821207 | GJB1 | c.723T>G (p.Pro241=)
| |
| X | g.71224431G>A | CA413503725 | GJB1 | c.724G>A (p.Glu242Lys)
| |
| X | g.71224431G>C | CA413503727 | GJB1 | c.724G>C (p.Glu242Gln)
| |
| X | g.71224431G>T | CA413503730 | GJB1 | c.724G>T (p.Glu242Ter)
| |
| X | g.71224432A>C | CA413503733 | GJB1 | c.725A>C (p.Glu242Ala)
| |
| X | g.71224432A>G | CA413503736 | GJB1 | c.725A>G (p.Glu242Gly)
| |
| X | g.71224432A>T | CA413503740 | GJB1 | c.725A>T (p.Glu242Val)
| |
| X | g.71224433A>C | CA413503744 | GJB1 | c.726A>C (p.Glu242Asp)
| |
| X | g.71224433A>G | CA516821208 | GJB1 | c.726A>G (p.Glu242=)
| |
| X | g.71224433A>T | CA413503746 | GJB1 | c.726A>T (p.Glu242Asp)
| |
| X | g.71224434T>A | CA413503750 | GJB1 | c.727T>A (p.Tyr243Asn)
| |
| X | g.71224434T>C | CA413503753 | GJB1 | c.727T>C (p.Tyr243His)
| dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224434T>G | CA413503754 | GJB1 | c.727T>G (p.Tyr243Asp)
| |
| X | g.71224434T= | CA2436388554 | GJB1 | c.727T= (p.Tyr243=)
| |
| X | g.71224435A>C | CA413503762 | GJB1 | c.728A>C (p.Tyr243Ser)
| |
| X | g.71224435A>G | CA413503765 | GJB1 | c.728A>G (p.Tyr243Cys)
| ClinVar dbSNP |
| X | g.71224435A>T | CA413503758 | GJB1 | c.728A>T (p.Tyr243Phe)
| |
| X | g.71224436C>A | CA413503768 | GJB1 | c.729C>A (p.Tyr243Ter)
| |
| X | g.71224436C>G | CA413503771 | GJB1 | c.729C>G (p.Tyr243Ter)
| |
| X | g.71224436C>T | CA516821210 | GJB1 | c.729C>T (p.Tyr243=)
| |
| X | g.71224437A>C | CA413503774 | GJB1 | c.730A>C (p.Lys244Gln)
| gnomAD v4 |
| X | g.71224437A>G | CA413503777 | GJB1 | c.730A>G (p.Lys244Glu)
| |
| X | g.71224437A>T | CA413503778 | GJB1 | c.730A>T (p.Lys244Ter)
| |
| X | g.71224438A>C | CA413503782 | GJB1 | c.731A>C (p.Lys244Thr)
| |
| X | g.71224438A>G | CA413503784 | GJB1 | c.731A>G (p.Lys244Arg)
| |
| X | g.71224438A>T | CA413503787 | GJB1 | c.731A>T (p.Lys244Met)
| |
| X | g.71224439G>A | CA516821214 | GJB1 | c.732G>A (p.Lys244=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.71224439G>C | CA413503792 | GJB1 | c.732G>C (p.Lys244Asn)
| |
| X | g.71224439G= | CA2436388555 | GJB1 | c.732G= (p.Lys244=)
| |
| X | g.71224439G>T | CA413503794 | GJB1 | c.732G>T (p.Lys244Asn)
| |
| X | g.71224440C>A | CA413503798 | GJB1 | c.733C>A (p.Gln245Lys)
| |
| X | g.71224440C>G | CA413503800 | GJB1 | c.733C>G (p.Gln245Glu)
| |
| X | g.71224440C>T | CA413503804 | GJB1 | c.733C>T (p.Gln245Ter)
| |
| X | g.71224441A>C | CA413503811 | GJB1 | c.734A>C (p.Gln245Pro)
| |
| X | g.71224441A>G | CA413503810 | GJB1 | c.734A>G (p.Gln245Arg)
| |
| X | g.71224441A>T | CA413503807 | GJB1 | c.734A>T (p.Gln245Leu)
| |
| X | g.71224442G>A | CA516821218 | GJB1 | c.735G>A (p.Gln245=)
| |
| X | g.71224442G>C | CA413503814 | GJB1 | c.735G>C (p.Gln245His)
| |
| X | g.71224442G>T | CA413503817 | GJB1 | c.735G>T (p.Gln245His)
| |
| X | g.71224443A>C | CA413503820 | GJB1 | c.736A>C (p.Asn246His)
| |
| X | g.71224443A>G | CA413503822 | GJB1 | c.736A>G (p.Asn246Asp)
| ClinVar |
| X | g.71224443A>T | CA413503825 | GJB1 | c.736A>T (p.Asn246Tyr)
| |
| X | g.71224444A>C | CA413503829 | GJB1 | c.737A>C (p.Asn246Thr)
| |
| X | g.71224444A>G | CA413503833 | GJB1 | c.737A>G (p.Asn246Ser)
| |
| X | g.71224444A>T | CA413503836 | GJB1 | c.737A>T (p.Asn246Ile)
| |
| X | g.71224445T>A | CA413503839 | GJB1 | c.738T>A (p.Asn246Lys)
| |
| X | g.71224445T>C | CA516821220 | GJB1 | c.738T>C (p.Asn246=)
| |
| X | g.71224445T>G | CA413503841 | GJB1 | c.738T>G (p.Asn246Lys)
| gnomAD v4 |
| X | g.71224446G>A | CA413503844 | GJB1 | c.739G>A (p.Glu247Lys)
| |
| X | g.71224446G>C | CA413503847 | GJB1 | c.739G>C (p.Glu247Gln)
| |
| X | g.71224446G>T | CA413503850 | GJB1 | c.739G>T (p.Glu247Ter)
| |
| X | g.71224447A>C | CA413503859 | GJB1 | c.740A>C (p.Glu247Ala)
| |
| X | g.71224447A>G | CA413503857 | GJB1 | c.740A>G (p.Glu247Gly)
| |
| X | g.71224447A>T | CA413503853 | GJB1 | c.740A>T (p.Glu247Val)
| |
| X | g.71224448G>A | CA516821223 | GJB1 | c.741G>A (p.Glu247=)
| |
| X | g.71224448G>C | CA413503864 | GJB1 | c.741G>C (p.Glu247Asp)
| |
| X | g.71224448G>T | CA413503868 | GJB1 | c.741G>T (p.Glu247Asp)
| |
