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 |
|---|---|---|---|---|---|
| 13 | g.20223271C>A | CA483154528 | GJB6 | c.210G>T (p.Pro70=) | |
| 13 | g.20223271C= | CA2077160304 | GJB6 | c.210G= (p.Pro70=) | |
| 13 | g.20223271C>G | CA483154530 | GJB6 | c.210G>C (p.Pro70=) | |
| 13 | g.20223271C>T | CA6904493 | GJB6 | c.210G>A (p.Pro70=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223272G>A | CA185121 | GJB6 | c.209C>T (p.Pro70Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223272G>C | CA387468600 | GJB6 | c.209C>G (p.Pro70Arg) | |
| 13 | g.20223272G= | CA2077160311 | GJB6 | c.209C= (p.Pro70=) | |
| 13 | g.20223272G>T | CA387468601 | GJB6 | c.209C>A (p.Pro70Gln) | |
| 13 | g.20223273G>A | CA387468602 | GJB6 | c.208C>T (p.Pro70Ser) | |
| 13 | g.20223273G>C | CA387468603 | GJB6 | c.208C>G (p.Pro70Ala) | |
| 13 | g.20223273G>T | CA387468604 | GJB6 | c.208C>A (p.Pro70Thr) | |
| 13 | g.20223274G>A | CA483154536 | GJB6 | c.207C>T (p.Phe69=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 13 | g.20223274G>C | CA387468605 | GJB6 | c.207C>G (p.Phe69Leu) | |
| 13 | g.20223274G= | CA2077160313 | GJB6 | c.207C= (p.Phe69=) | |
| 13 | g.20223274G>T | CA387468606 | GJB6 | c.207C>A (p.Phe69Leu) | |
| 13 | g.20223275A>C | CA387468607 | GJB6 | c.206T>G (p.Phe69Cys) | |
| 13 | g.20223275A>G | CA387468609 | GJB6 | c.206T>C (p.Phe69Ser) | |
| 13 | g.20223275A>T | CA387468608 | GJB6 | c.206T>A (p.Phe69Tyr) | |
| 13 | g.20223279del | CA2622252311 | GJB6 | c.206del (p.Phe69SerfsTer13) c.206del (p.Phe69SerfsTer?) | gnomAD v4 |
| 13 | g.20223276A>C | CA387468610 | GJB6 | c.205T>G (p.Phe69Val) | |
| 13 | g.20223276A>G | CA387468611 | GJB6 | c.205T>C (p.Phe69Leu) | |
| 13 | g.20223276A>T | CA387468612 | GJB6 | c.205T>A (p.Phe69Ile) | |
| 13 | g.20223277A>C | CA387468613 | GJB6 | c.204T>G (p.Phe68Leu) | |
| 13 | g.20223277A>G | CA483154541 | GJB6 | c.204T>C (p.Phe68=) | |
| 13 | g.20223277A>T | CA387468614 | GJB6 | c.204T>A (p.Phe68Leu) | |
| 13 | g.20223278A>C | CA387468615 | GJB6 | c.203T>G (p.Phe68Cys) | |
| 13 | g.20223278A>G | CA387468616 | GJB6 | c.203T>C (p.Phe68Ser) | |
| 13 | g.20223278A>T | CA387468617 | GJB6 | c.203T>A (p.Phe68Tyr) | |
| 13 | g.20223279A= | CA2077160318 | GJB6 | c.202T= (p.Phe68=) | |
| 13 | g.20223279A>C | CA387468618 | GJB6 | c.202T>G (p.Phe68Val) | |
| 13 | g.20223279A>G | CA387468619 | GJB6 | c.202T>C (p.Phe68Leu) | |
| 13 | g.20223279A>T | CA387468620 | GJB6 | c.202T>A (p.Phe68Ile) | dbSNP COSMIC |
| 13 | g.20223279_20223280delinsAG | CA2077160316 | GJB6 | c.201_202delinsCT (p.His67=) | |
| 13 | g.20223280del | CA6904494 | GJB6 | c.201del (p.Phe69SerfsTer13) c.201del (p.Phe69SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223280G>A | CA483154545 | GJB6 | c.201C>T (p.His67=) | gnomAD v4 |
| 13 | g.20223280G>C | CA387468621 | GJB6 | c.201C>G (p.His67Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223280G= | CA2077160322 | GJB6 | c.201C= (p.His67=) | |
| 13 | g.20223280G>T | CA6904495 | GJB6 | c.201C>A (p.His67Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223281T>A | CA387468622 | GJB6 | c.200A>T (p.His67Leu) | |
| 13 | g.20223281T>C | CA387468623 | GJB6 | c.200A>G (p.His67Arg) | |
| 13 | g.20223281T>G | CA387468624 | GJB6 | c.200A>C (p.His67Pro) | |
| 13 | g.20223282G>A | CA387468625 | GJB6 | c.199C>T (p.His67Tyr) | |
| 13 | g.20223282G>C | CA387468626 | GJB6 | c.199C>G (p.His67Asp) | gnomAD v4 |
| 13 | g.20223282G>T | CA387468627 | GJB6 | c.199C>A (p.His67Asn) | |
| 13 | g.20223283G>A | CA483154550 | GJB6 | c.198C>T (p.Asp66=) | |
| 13 | g.20223283G>C | CA387468628 | GJB6 | c.198C>G (p.Asp66Glu) | |
| 13 | g.20223283G>T | CA387468629 | GJB6 | c.198C>A (p.Asp66Glu) | |
| 13 | g.20223284T>A | CA387468630 | GJB6 | c.197A>T (p.Asp66Val) | |
| 13 | g.20223284T>C | CA387468631 | GJB6 | c.197A>G (p.Asp66Gly) | |
| 13 | g.20223284T>G | CA387468632 | GJB6 | c.197A>C (p.Asp66Ala) | |
| 13 | g.20223285C>A | CA387468633 | GJB6 | c.196G>T (p.Asp66Tyr) | gnomAD v4 |
| 13 | g.20223285C= | CA2077160328 | GJB6 | c.196G= (p.Asp66=) | |
| 13 | g.20223285C>G | CA387468634 | GJB6 | c.196G>C (p.Asp66His) | |
| 13 | g.20223285C>T | CA246491056 | GJB6 | c.196G>A (p.Asp66Asn) | dbSNP |
| 13 | g.20223286A>C | CA387468635 | GJB6 | c.195T>G (p.Tyr65Ter) | |
| 13 | g.20223286A>G | CA483154556 | GJB6 | c.195T>C (p.Tyr65=) | dbSNP |
| 13 | g.20223286A>T | CA387468636 | GJB6 | c.195T>A (p.Tyr65Ter) | gnomAD v4 |
| 13 | g.20223287T>A | CA387468637 | GJB6 | c.194A>T (p.Tyr65Phe) | |
| 13 | g.20223287T>C | CA387468638 | GJB6 | c.194A>G (p.Tyr65Cys) | |
| 13 | g.20223287T>G | CA387468639 | GJB6 | c.194A>C (p.Tyr65Ser) | |
| 13 | g.20223288A>C | CA387468640 | GJB6 | c.193T>G (p.Tyr65Asp) | |
| 13 | g.20223288A>G | CA387468641 | GJB6 | c.193T>C (p.Tyr65His) | |
| 13 | g.20223288A>T | CA387468642 | GJB6 | c.193T>A (p.Tyr65Asn) | |
| 13 | g.20223289G>A | CA483154562 | GJB6 | c.192C>T (p.Cys64=) | gnomAD v4 |
| 13 | g.20223289G>C | CA387468643 | GJB6 | c.192C>G (p.Cys64Trp) | |
| 13 | g.20223289G>T | CA387468644 | GJB6 | c.192C>A (p.Cys64Ter) | |
| 13 | g.20223290C>A | CA387468645 | GJB6 | c.191G>T (p.Cys64Phe) | |
| 13 | g.20223290C>G | CA387468646 | GJB6 | c.191G>C (p.Cys64Ser) | |
| 13 | g.20223290C>T | CA387468647 | GJB6 | c.191G>A (p.Cys64Tyr) | |
| 13 | g.20223291A>C | CA387468650 | GJB6 | c.190T>G (p.Cys64Gly) | |
| 13 | g.20223291A>G | CA387468649 | GJB6 | c.190T>C (p.Cys64Arg) | |
| 13 | g.20223291A>T | CA387468648 | GJB6 | c.190T>A (p.Cys64Ser) | |
| 13 | g.20223291_20223301delinsACACATTTTTG | CA2077160332 | GJB6 | c.180_190delinsCAAAAATGTGT (p.Cys60=) | |
| 13 | g.20223292C>A | CA483154569 | GJB6 | c.189G>T (p.Val63=) | |
| 13 | g.20223292C>G | CA483154573 | GJB6 | c.189G>C (p.Val63=) | |
| 13 | g.20223292C>T | CA483154574 | GJB6 | c.189G>A (p.Val63=) | dbSNP gnomAD v4 |
| 13 | g.20223294_20223303del | CA2077160335 | GJB6 | c.180_189del (p.Lys61AlafsTer18) c.180_189del (p.Lys61AlafsTer?) | dbSNP |
| 13 | g.20223293A>C | CA387468651 | GJB6 | c.188T>G (p.Val63Gly) | |
| 13 | g.20223293A>G | CA387468652 | GJB6 | c.188T>C (p.Val63Ala) | |
| 13 | g.20223293A>T | CA387468653 | GJB6 | c.188T>A (p.Val63Glu) | |
| 13 | g.20223294C>A | CA387468654 | GJB6 | c.187G>T (p.Val63Leu) | |
| 13 | g.20223294C= | CA2077160338 | GJB6 | c.187G= (p.Val63=) | |
| 13 | g.20223294C>G | CA387468655 | GJB6 | c.187G>C (p.Val63Leu) | |
| 13 | g.20223294C>T | CA387468656 | GJB6 | c.187G>A (p.Val63Met) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223294_20223296del | CA2528926109 | GJB6 | c.185_187del (p.Asn62_Val63delinsMet) | gnomAD v4 |
| 13 | g.20223295A= | CA2077160339 | GJB6 | c.186T= (p.Asn62=) | |
| 13 | g.20223295A>C | CA387468657 | GJB6 | c.186T>G (p.Asn62Lys) | |
| 13 | g.20223295A>G | CA483154583 | GJB6 | c.186T>C (p.Asn62=) | dbSNP gnomAD v4 |
| 13 | g.20223295A>T | CA387468658 | GJB6 | c.186T>A (p.Asn62Lys) | |
| 13 | g.20223296T>A | CA387468659 | GJB6 | c.185A>T (p.Asn62Ile) | |
| 13 | g.20223296T>C | CA387468660 | GJB6 | c.185A>G (p.Asn62Ser) | gnomAD v4 |
| 13 | g.20223296T>G | CA387468661 | GJB6 | c.185A>C (p.Asn62Thr) | |
| 13 | g.20223297T>A | CA387468662 | GJB6 | c.184A>T (p.Asn62Tyr) | |
| 13 | g.20223297T>C | CA387468663 | GJB6 | c.184A>G (p.Asn62Asp) | |
| 13 | g.20223297T>G | CA387468664 | GJB6 | c.184A>C (p.Asn62His) | |
| 13 | g.20223298T>A | CA387468666 | GJB6 | c.183A>T (p.Lys61Asn) | |
| 13 | g.20223298T>C | CA483154587 | GJB6 | c.183A>G (p.Lys61=) | |
| 13 | g.20223298T>G | CA387468665 | GJB6 | c.183A>C (p.Lys61Asn) | |
| 13 | g.20223299T>A | CA387468667 | GJB6 | c.182A>T (p.Lys61Ile) | |
| 13 | g.20223299T>C | CA387468669 | GJB6 | c.182A>G (p.Lys61Arg) | |
| 13 | g.20223299T>G | CA387468668 | GJB6 | c.182A>C (p.Lys61Thr) | |
| 13 | g.20223300T>A | CA387468670 | GJB6 | c.181A>T (p.Lys61Ter) | |
| 13 | g.20223300T>C | CA387468672 | GJB6 | c.181A>G (p.Lys61Glu) | |
| 13 | g.20223300T>G | CA387468671 | GJB6 | c.181A>C (p.Lys61Gln) | |
| 13 | g.20223301G>A | CA483154323 | GJB6 | c.180C>T (p.Cys60=) | gnomAD v4 |
| 13 | g.20223301G>C | CA387468673 | GJB6 | c.180C>G (p.Cys60Trp) | gnomAD v4 |
| 13 | g.20223301G>T | CA387468674 | GJB6 | c.180C>A (p.Cys60Ter) | |
| 13 | g.20223302C>A | CA6904496 | GJB6 | c.179G>T (p.Cys60Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223302C= | CA2077160342 | GJB6 | c.179G= (p.Cys60=) | |
| 13 | g.20223302C>G | CA387468675 | GJB6 | c.179G>C (p.Cys60Ser) | |
| 13 | g.20223302C>T | CA387468676 | GJB6 | c.179G>A (p.Cys60Tyr) | |
| 13 | g.20223303A>C | CA387468677 | GJB6 | c.178T>G (p.Cys60Gly) | |
| 13 | g.20223303A>G | CA387468678 | GJB6 | c.178T>C (p.Cys60Arg) | |
| 13 | g.20223303A>T | CA387468679 | GJB6 | c.178T>A (p.Cys60Ser) | |
| 13 | g.20223304T>A | CA483154325 | GJB6 | c.177A>T (p.Gly59=) | |
| 13 | g.20223304T>C | CA243400 | GJB6 | c.177A>G (p.Gly59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223304T>G | CA483154326 | GJB6 | c.177A>C (p.Gly59=) | |
| 13 | g.20223304T= | CA2077160346 | GJB6 | c.177A= (p.Gly59=) | |
| 13 | g.20223305C>A | CA387468680 | GJB6 | c.176G>T (p.Gly59Val) | ClinVar |
| 13 | g.20223305C>G | CA387468681 | GJB6 | c.176G>C (p.Gly59Ala) | |
| 13 | g.20223305C>T | CA387468682 | GJB6 | c.176G>A (p.Gly59Glu) | ClinVar dbSNP |
| 13 | g.20223306C>A | CA387468683 | GJB6 | c.175G>T (p.Gly59Ter) | |
| 13 | g.20223306C>G | CA387468684 | GJB6 | c.175G>C (p.Gly59Arg) | |
| 13 | g.20223306C>T | CA387468685 | GJB6 | c.175G>A (p.Gly59Arg) | |
| 13 | g.20223307C>A | CA483154332 | GJB6 | c.174G>T (p.Pro58=) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20223307C= | CA2077160354 | GJB6 | c.174G= (p.Pro58=) | |
| 13 | g.20223307C>G | CA483154335 | GJB6 | c.174G>C (p.Pro58=) | |
| 13 | g.20223307C>T | CA483154334 | GJB6 | c.174G>A (p.Pro58=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20223308G>A | CA6904497 | GJB6 | c.173C>T (p.Pro58Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223308G>C | CA387468687 | GJB6 | c.173C>G (p.Pro58Arg) | |
| 13 | g.20223308G= | CA2077160361 | GJB6 | c.173C= (p.Pro58=) | |
| 13 | g.20223308G>T | CA387468686 | GJB6 | c.173C>A (p.Pro58Gln) | |
| 13 | g.20223309G>A | CA387468688 | GJB6 | c.172C>T (p.Pro58Ser) | |
| 13 | g.20223309G>C | CA387468689 | GJB6 | c.172C>G (p.Pro58Ala) | |
| 13 | g.20223309G>T | CA387468690 | GJB6 | c.172C>A (p.Pro58Thr) | |
| 13 | g.20223310T>A | CA387468691 | GJB6 | c.171A>T (p.Gln57His) | |
| 13 | g.20223310T>C | CA483154337 | GJB6 | c.171A>G (p.Gln57=) | |
| 13 | g.20223310T>G | CA387468692 | GJB6 | c.171A>C (p.Gln57His) | |
| 13 | g.20223311T>A | CA387468693 | GJB6 | c.170A>T (p.Gln57Leu) | |
| 13 | g.20223311T>C | CA387468694 | GJB6 | c.170A>G (p.Gln57Arg) | |
| 13 | g.20223311T>G | CA387468695 | GJB6 | c.170A>C (p.Gln57Pro) | |
| 13 | g.20223312G>A | CA387468696 | GJB6 | c.169C>T (p.Gln57Ter) | |
| 13 | g.20223312G>C | CA387468697 | GJB6 | c.169C>G (p.Gln57Glu) | |
| 13 | g.20223312G>T | CA387468698 | GJB6 | c.169C>A (p.Gln57Lys) | |
| 13 | g.20223313C>A | CA483154342 | GJB6 | c.168G>T (p.Leu56=) | |
| 13 | g.20223313C>G | CA483154344 | GJB6 | c.168G>C (p.Leu56=) | |
| 13 | g.20223313C>T | CA483154343 | GJB6 | c.168G>A (p.Leu56=) | gnomAD v4 |
| 13 | g.20223314A>C | CA387468701 | GJB6 | c.167T>G (p.Leu56Arg) | |
| 13 | g.20223314A>G | CA387468699 | GJB6 | c.167T>C (p.Leu56Pro) | |
| 13 | g.20223314A>T | CA387468700 | GJB6 | c.167T>A (p.Leu56Gln) | |
| 13 | g.20223314_20223315insTCCC | CA2575364836 | GJB6 | c.166_167insGGGA (p.Leu56ArgfsTer12) | |
| 13 | g.20223315G>A | CA483154345 | GJB6 | c.166C>T (p.Leu56=) | dbSNP |
| 13 | g.20223315G>C | CA387468702 | GJB6 | c.166C>G (p.Leu56Val) | |
| 13 | g.20223315G= | CA2077160364 | GJB6 | c.166C= (p.Leu56=) | |
| 13 | g.20223315G>T | CA387468703 | GJB6 | c.166C>A (p.Leu56Met) | |
| 13 | g.20223315_20223317del | CA2509577867 | GJB6 | c.164_166del (p.Thr55_Leu56delinsMet) | gnomAD v4 |
| 13 | g.20223316T>A | CA483154348 | GJB6 | c.165A>T (p.Thr55=) | |
| 13 | g.20223316T>C | CA483154349 | GJB6 | c.165A>G (p.Thr55=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223316T>G | CA483154350 | GJB6 | c.165A>C (p.Thr55=) | |
| 13 | g.20223316T= | CA2077160366 | GJB6 | c.165A= (p.Thr55=) | |
| 13 | g.20223316_20223317insAT | CA2798417004 | GJB6 | c.165_166insTA (p.Leu56TyrfsTer27) c.165_166insTA (p.Leu56TyrfsTer?) | |
| 13 | g.20223316_20223318del | CA2575364837 | GJB6 | c.163_165del (p.Thr55del) | |
| 13 | g.20223317G>A | CA387468704 | GJB6 | c.164C>T (p.Thr55Ile) | |
| 13 | g.20223317G>C | CA387468705 | GJB6 | c.164C>G (p.Thr55Arg) | |
| 13 | g.20223317G>T | CA387468706 | GJB6 | c.164C>A (p.Thr55Lys) | |
| 13 | g.20223318T>A | CA387468707 | GJB6 | c.163A>T (p.Thr55Ser) | |
| 13 | g.20223318T>C | CA387468708 | GJB6 | c.163A>G (p.Thr55Ala) | gnomAD v4 |
| 13 | g.20223318T>G | CA387468709 | GJB6 | c.163A>C (p.Thr55Pro) | |
| 13 | g.20223318_20223319insCCCG | CA2531906684 | GJB6 | c.162_163insCGGG (p.Thr55ArgfsTer13) | gnomAD v4 |
| 13 | g.20223319G>A | CA483154352 | GJB6 | c.162C>T (p.Asn54=) | |
| 13 | g.20223319G>C | CA387468710 | GJB6 | c.162C>G (p.Asn54Lys) | |
| 13 | g.20223319G>T | CA387468711 | GJB6 | c.162C>A (p.Asn54Lys) | |
| 13 | g.20223320T>A | CA387468712 | GJB6 | c.161A>T (p.Asn54Ile) | |
| 13 | g.20223320T>C | CA387468713 | GJB6 | c.161A>G (p.Asn54Ser) | |
| 13 | g.20223320T>G | CA387468714 | GJB6 | c.161A>C (p.Asn54Thr) | |
| 13 | g.20223321T>A | CA387468717 | GJB6 | c.160A>T (p.Asn54Tyr) | |
| 13 | g.20223321T>C | CA387468715 | GJB6 | c.160A>G (p.Asn54Asp) | |
| 13 | g.20223321T>G | CA387468716 | GJB6 | c.160A>C (p.Asn54His) | |
| 13 | g.20223322G>A | CA483154354 | GJB6 | c.159C>T (p.Cys53=) | |
| 13 | g.20223322G>C | CA387468718 | GJB6 | c.159C>G (p.Cys53Trp) | |
| 13 | g.20223322G>T | CA387468719 | GJB6 | c.159C>A (p.Cys53Ter) | ClinVar |
| 13 | g.20223323C>A | CA387468720 | GJB6 | c.158G>T (p.Cys53Phe) | gnomAD v4 |
| 13 | g.20223323C>G | CA387468721 | GJB6 | c.158G>C (p.Cys53Ser) | |
| 13 | g.20223323C>T | CA387468722 | GJB6 | c.158G>A (p.Cys53Tyr) | |
| 13 | g.20223324A>C | CA387468723 | GJB6 | c.157T>G (p.Cys53Gly) | |
| 13 | g.20223324A>G | CA387468724 | GJB6 | c.157T>C (p.Cys53Arg) | |
| 13 | g.20223324A>T | CA387468725 | GJB6 | c.157T>A (p.Cys53Ser) | |
| 13 | g.20223324_20223325insAGA | CA2516640208 | GJB6 | c.157_158insCTT (p.Val52_Cys53insSer) | gnomAD v4 |
| 13 | g.20223325G>A | CA483154356 | GJB6 | c.156C>T (p.Val52=) | |
| 13 | g.20223325G>C | CA483154357 | GJB6 | c.156C>G (p.Val52=) | |
| 13 | g.20223325G>T | CA483154358 | GJB6 | c.156C>A (p.Val52=) | COSMIC |
| 13 | g.20223326A>C | CA387468726 | GJB6 | c.155T>G (p.Val52Gly) | |
| 13 | g.20223326A>G | CA387468727 | GJB6 | c.155T>C (p.Val52Ala) | |
| 13 | g.20223326A>T | CA387468728 | GJB6 | c.155T>A (p.Val52Asp) | |
| 13 | g.20223327C>A | CA387468729 | GJB6 | c.154G>T (p.Val52Phe) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223327C= | CA2077160370 | GJB6 | c.154G= (p.Val52=) | |
| 13 | g.20223327C>G | CA387468730 | GJB6 | c.154G>C (p.Val52Leu) | |
| 13 | g.20223327C>T | CA6904498 | GJB6 | c.154G>A (p.Val52Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223328G>A | CA6904499 | GJB6 | c.153C>T (p.Phe51=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20223328G>C | CA387468731 | GJB6 | c.153C>G (p.Phe51Leu) | |
| 13 | g.20223328G= | CA2077160373 | GJB6 | c.153C= (p.Phe51=) | |
| 13 | g.20223328G>T | CA387468732 | GJB6 | c.153C>A (p.Phe51Leu) | |
| 13 | g.20223329A>C | CA387468733 | GJB6 | c.152T>G (p.Phe51Cys) | |
| 13 | g.20223329A>G | CA387468734 | GJB6 | c.152T>C (p.Phe51Ser) | |
| 13 | g.20223329A>T | CA387468735 | GJB6 | c.152T>A (p.Phe51Tyr) | |
| 13 | g.20223330A>C | CA387468738 | GJB6 | c.151T>G (p.Phe51Val) | |
| 13 | g.20223330A>G | CA387468736 | GJB6 | c.151T>C (p.Phe51Leu) | |
| 13 | g.20223330A>T | CA387468737 | GJB6 | c.151T>A (p.Phe51Ile) | |
| 13 | g.20223331G>A | CA483154365 | GJB6 | c.150C>T (p.Asp50=) | gnomAD v4 |
| 13 | g.20223331G>C | CA387468739 | GJB6 | c.150C>G (p.Asp50Glu) | |
| 13 | g.20223331G>T | CA387468740 | GJB6 | c.150C>A (p.Asp50Glu) | |
| 13 | g.20223332T>A | CA387468741 | GJB6 | c.149A>T (p.Asp50Val) | |
| 13 | g.20223332T>C | CA246491057 | GJB6 | c.149A>G (p.Asp50Gly) | dbSNP gnomAD v4 |
| 13 | g.20223332T>G | CA387468742 | GJB6 | c.149A>C (p.Asp50Ala) | |
| 13 | g.20223332T= | CA2077160375 | GJB6 | c.149A= (p.Asp50=) | |
| 13 | g.20223333C>A | CA387468743 | GJB6 | c.148G>T (p.Asp50Tyr) | |
| 13 | g.20223333C= | CA2077160378 | GJB6 | c.148G= (p.Asp50=) | |
| 13 | g.20223333C>G | CA387468745 | GJB6 | c.148G>C (p.Asp50His) | ClinVar dbSNP |
| 13 | g.20223333C>T | CA387468744 | GJB6 | c.148G>A (p.Asp50Asn) | dbSNP |
| 13 | g.20223334C>A | CA387468746 | GJB6 | c.147G>T (p.Glu49Asp) | |
| 13 | g.20223334C= | CA2077160381 | GJB6 | c.147G= (p.Glu49=) | |
| 13 | g.20223334C>G | CA387468747 | GJB6 | c.147G>C (p.Glu49Asp) | |
| 13 | g.20223334C>T | CA6904500 | GJB6 | c.147G>A (p.Glu49=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223335T>A | CA387468748 | GJB6 | c.146A>T (p.Glu49Val) | |
| 13 | g.20223335T>C | CA387468749 | GJB6 | c.146A>G (p.Glu49Gly) | |
| 13 | g.20223335T>G | CA387468750 | GJB6 | c.146A>C (p.Glu49Ala) | |
| 13 | g.20223336C>A | CA387468751 | GJB6 | c.145G>T (p.Glu49Ter) | |
| 13 | g.20223336C>G | CA387468752 | GJB6 | c.145G>C (p.Glu49Gln) | |
| 13 | g.20223336C>T | CA387468753 | GJB6 | c.145G>A (p.Glu49Lys) | |
| 13 | g.20223337T>A | CA387468754 | GJB6 | c.144A>T (p.Gln48His) | |
| 13 | g.20223337T>C | CA483154376 | GJB6 | c.144A>G (p.Gln48=) | |
| 13 | g.20223337T>G | CA387468755 | GJB6 | c.144A>C (p.Gln48His) | |
| 13 | g.20223338T>A | CA387468756 | GJB6 | c.143A>T (p.Gln48Leu) | |
| 13 | g.20223338T>C | CA387468758 | GJB6 | c.143A>G (p.Gln48Arg) | |
| 13 | g.20223338T>G | CA387468757 | GJB6 | c.143A>C (p.Gln48Pro) | |
| 13 | g.20223339G>A | CA387468759 | GJB6 | c.142C>T (p.Gln48Ter) | |
| 13 | g.20223339G>C | CA387468760 | GJB6 | c.142C>G (p.Gln48Glu) | |
| 13 | g.20223339G>T | CA387468761 | GJB6 | c.142C>A (p.Gln48Lys) | |
| 13 | g.20223340C>A | CA387468762 | GJB6 | c.141G>T (p.Glu47Asp) | |
| 13 | g.20223340C>G | CA387468763 | GJB6 | c.141G>C (p.Glu47Asp) | |
| 13 | g.20223340C>T | CA483154378 | GJB6 | c.141G>A (p.Glu47=) | gnomAD v4 |
| 13 | g.20223341T>A | CA387468764 | GJB6 | c.140A>T (p.Glu47Val) | |
| 13 | g.20223341T>C | CA387468765 | GJB6 | c.140A>G (p.Glu47Gly) | |
| 13 | g.20223341T>G | CA387468766 | GJB6 | c.140A>C (p.Glu47Ala) | |
| 13 | g.20223342C>A | CA387468767 | GJB6 | c.139G>T (p.Glu47Ter) | |
| 13 | g.20223342C= | CA2077160386 | GJB6 | c.139G= (p.Glu47=) | |
| 13 | g.20223342C>G | CA387468768 | GJB6 | c.139G>C (p.Glu47Gln) | |
| 13 | g.20223342C>T | CA387468769 | GJB6 | c.139G>A (p.Glu47Lys) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 13 | g.20223343G>A | CA6904501 | GJB6 | c.138C>T (p.Asp46=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223343G>C | CA387468771 | GJB6 | c.138C>G (p.Asp46Glu) | |
| 13 | g.20223343G= | CA2077160389 | GJB6 | c.138C= (p.Asp46=) | |
| 13 | g.20223343G>T | CA387468770 | GJB6 | c.138C>A (p.Asp46Glu) | |
| 13 | g.20223344T>A | CA387468772 | GJB6 | c.137A>T (p.Asp46Val) | |
| 13 | g.20223344T>C | CA387468773 | GJB6 | c.137A>G (p.Asp46Gly) | |
| 13 | g.20223344T>G | CA387468774 | GJB6 | c.137A>C (p.Asp46Ala) | |
| 13 | g.20223345C>A | CA387468775 | GJB6 | c.136G>T (p.Asp46Tyr) c.136G>T | |
| 13 | g.20223345C>G | CA387468776 | GJB6 | c.136G>C (p.Asp46His) c.136G>C | gnomAD v4 |
| 13 | g.20223345C>T | CA387468777 | GJB6 | c.136G>A (p.Asp46Asn) c.136G>A | |
| 13 | g.20223346A= | CA2077160392 | GJB6 | c.135T= (p.Gly45=) | |
| 13 | g.20223346A>C | CA483154385 | GJB6 | c.135T>G (p.Gly45=) | dbSNP |
| 13 | g.20223346A>G | CA483154386 | GJB6 | c.135T>C (p.Gly45=) | |
| 13 | g.20223346A>T | CA483154387 | GJB6 | c.135T>A (p.Gly45=) | |
| 13 | g.20223347C>A | CA387468778 | GJB6 | c.134G>T (p.Gly45Val) | gnomAD v4 |
| 13 | g.20223347C>G | CA387468779 | GJB6 | c.134G>C (p.Gly45Ala) | |
| 13 | g.20223347C>T | CA387468780 | GJB6 | c.134G>A (p.Gly45Asp) | |
| 13 | g.20223348C>A | CA387468781 | GJB6 | c.133G>T (p.Gly45Cys) | gnomAD v4 |
| 13 | g.20223348C= | CA2077160394 | GJB6 | c.133G= (p.Gly45=) | |
| 13 | g.20223348C>G | CA387468782 | GJB6 | c.133G>C (p.Gly45Arg) | |
| 13 | g.20223348C>T | CA6904502 | GJB6 | c.133G>A (p.Gly45Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223349C>A | CA387468783 | GJB6 | c.132G>T (p.Trp44Cys) | gnomAD v4 |
| 13 | g.20223349C= | CA2077160397 | GJB6 | c.132G= (p.Trp44=) | |
| 13 | g.20223349C>G | CA387468784 | GJB6 | c.132G>C (p.Trp44Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 13 | g.20223349C>T | CA6904503 | GJB6 | c.132G>A (p.Trp44Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223350C>A | CA387468786 | GJB6 | c.131G>T (p.Trp44Leu) | |
| 13 | g.20223350C>G | CA387468785 | GJB6 | c.131G>C (p.Trp44Ser) | |
| 13 | g.20223350C>T | CA387468787 | GJB6 | c.131G>A (p.Trp44Ter) | |
| 13 | g.20223351A>C | CA387468788 | GJB6 | c.130T>G (p.Trp44Gly) | |
| 13 | g.20223351A>G | CA387468789 | GJB6 | c.130T>C (p.Trp44Arg) | |
| 13 | g.20223351A>T | CA387468790 | GJB6 | c.130T>A (p.Trp44Arg) | |
| 13 | g.20223352C>A | CA483154398 | GJB6 | c.129G>T (p.Val43=) | |
| 13 | g.20223352C= | CA2077160400 | GJB6 | c.129G= (p.Val43=) | |
| 13 | g.20223352C>G | CA483154399 | GJB6 | c.129G>C (p.Val43=) | |
| 13 | g.20223352C>T | CA6904504 | GJB6 | c.129G>A (p.Val43=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223353A= | CA2077160404 | GJB6 | c.128T= (p.Val43=) | |
| 13 | g.20223353A>C | CA387468791 | GJB6 | c.128T>G (p.Val43Gly) | |
| 13 | g.20223353A>G | CA246491064 | GJB6 | c.128T>C (p.Val43Ala) | dbSNP |
| 13 | g.20223353A>T | CA387468792 | GJB6 | c.128T>A (p.Val43Glu) | gnomAD v4 |
| 13 | g.20223354C>A | CA387468793 | GJB6 | c.127G>T (p.Val43Leu) | |
| 13 | g.20223354C>G | CA387468794 | GJB6 | c.127G>C (p.Val43Leu) | |
| 13 | g.20223354C>T | CA387468795 | GJB6 | c.127G>A (p.Val43Met) | gnomAD v4 |
| 13 | g.20223355T>A | CA387468796 | GJB6 | c.126A>T (p.Glu42Asp) | gnomAD v3 gnomAD v4 |
| 13 | g.20223355T>C | CA483154401 | GJB6 | c.126A>G (p.Glu42=) | |
| 13 | g.20223355T>G | CA387468797 | GJB6 | c.126A>C (p.Glu42Asp) | |
| 13 | g.20223356T>A | CA387468800 | GJB6 | c.125A>T (p.Glu42Val) | |
| 13 | g.20223356T>C | CA387468799 | GJB6 | c.125A>G (p.Glu42Gly) | |
| 13 | g.20223356T>G | CA387468798 | GJB6 | c.125A>C (p.Glu42Ala) | |
| 13 | g.20223357C>A | CA387468801 | GJB6 | c.124G>T (p.Glu42Ter) | |
| 13 | g.20223357C>G | CA387468802 | GJB6 | c.124G>C (p.Glu42Gln) | |
| 13 | g.20223357C>T | CA387468803 | GJB6 | c.124G>A (p.Glu42Lys) | |
| 13 | g.20223358C>A | CA387468804 | GJB6 | c.123G>T (p.Gln41His) | |
| 13 | g.20223358C>G | CA387468805 | GJB6 | c.123G>C (p.Gln41His) | |
| 13 | g.20223358C>T | CA483154409 | GJB6 | c.123G>A (p.Gln41=) | |
| 13 | g.20223359T>A | CA387468806 | GJB6 | c.122A>T (p.Gln41Leu) | |
| 13 | g.20223359T>C | CA387468807 | GJB6 | c.122A>G (p.Gln41Arg) | gnomAD v4 |
| 13 | g.20223359T>G | CA387468808 | GJB6 | c.122A>C (p.Gln41Pro) | |
| 13 | g.20223360G>A | CA387468809 | GJB6 | c.121C>T (p.Gln41Ter) | gnomAD v4 |
| 13 | g.20223360G>C | CA387468810 | GJB6 | c.121C>G (p.Gln41Glu) | dbSNP gnomAD v4 |
| 13 | g.20223360G= | CA2077160406 | GJB6 | c.121C= (p.Gln41=) | |
| 13 | g.20223360G>T | CA387468811 | GJB6 | c.121C>A (p.Gln41Lys) | |
| 13 | g.20223361G>A | CA6904505 | GJB6 | c.120C>T (p.Ala40=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223361G>C | CA483154415 | GJB6 | c.120C>G (p.Ala40=) | |
| 13 | g.20223361G= | CA2077160410 | GJB6 | c.120C= (p.Ala40=) | |
| 13 | g.20223361G>T | CA483154417 | GJB6 | c.120C>A (p.Ala40=) | |
| 13 | g.20223362G>A | CA6904506 | GJB6 | c.119C>T (p.Ala40Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.20223362G>C | CA387468813 | GJB6 | c.119C>G (p.Ala40Gly) | |
| 13 | g.20223362G= | CA2077160421 | GJB6 | c.119C= (p.Ala40=) | |
| 13 | g.20223362G>T | CA387468812 | GJB6 | c.119C>A (p.Ala40Asp) | |
| 13 | g.20223363C>A | CA387468814 | GJB6 | c.118G>T (p.Ala40Ser) | |
| 13 | g.20223363C>G | CA387468815 | GJB6 | c.118G>C (p.Ala40Pro) | |
| 13 | g.20223363C>T | CA387468816 | GJB6 | c.118G>A (p.Ala40Thr) | gnomAD v4 |
| 13 | g.20223364A= | CA2077160424 | GJB6 | c.117T= (p.Ala39=) | |
| 13 | g.20223364A>C | CA483154423 | GJB6 | c.117T>G (p.Ala39=) | |
| 13 | g.20223364A>G | CA176177 | GJB6 | c.117T>C (p.Ala39=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223364A>T | CA483154425 | GJB6 | c.117T>A (p.Ala39=) | |
| 13 | g.20223365G>A | CA387468817 | GJB6 | c.116C>T (p.Ala39Val) | |
| 13 | g.20223365G>C | CA387468818 | GJB6 | c.116C>G (p.Ala39Gly) | |
| 13 | g.20223365G= | CA2077160430 | GJB6 | c.116C= (p.Ala39=) | |
| 13 | g.20223365G>T | CA387468820 | GJB6 | c.116C>A (p.Ala39Asp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223366C>A | CA387468821 | GJB6 | c.115G>T (p.Ala39Ser) | |
| 13 | g.20223366C= | CA2077160432 | GJB6 | c.115G= (p.Ala39=) | |
| 13 | g.20223366C>G | CA387468822 | GJB6 | c.115G>C (p.Ala39Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.20223366C>T | CA387468823 | GJB6 | c.115G>A (p.Ala39Thr) | gnomAD v4 |
| 13 | g.20223367C>A | CA483154427 | GJB6 | c.114G>T (p.Val38=) | |
| 13 | g.20223367C>G | CA483154428 | GJB6 | c.114G>C (p.Val38=) | |
| 13 | g.20223367C>T | CA483154432 | GJB6 | c.114G>A (p.Val38=) | |
| 13 | g.20223368A= | CA2077160434 | GJB6 | c.113T= (p.Val38=) | |
| 13 | g.20223368A>C | CA6904507 | GJB6 | c.113T>G (p.Val38Gly) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223368A>G | CA387468824 | GJB6 | c.113T>C (p.Val38Ala) | |
| 13 | g.20223368A>T | CA387468825 | GJB6 | c.113T>A (p.Val38Glu) | |
| 13 | g.20223369C>A | CA387468828 | GJB6 | c.112G>T (p.Val38Leu) | gnomAD v4 |
| 13 | g.20223369C>G | CA387468826 | GJB6 | c.112G>C (p.Val38Leu) | |
| 13 | g.20223369C>T | CA387468827 | GJB6 | c.112G>A (p.Val38Met) | |
| 13 | g.20223370C>A | CA483154440 | GJB6 | c.111G>T (p.Val37=) | |
| 13 | g.20223370C= | CA2077160437 | GJB6 | c.111G= (p.Val37=) | |
| 13 | g.20223370C>G | CA483154441 | GJB6 | c.111G>C (p.Val37=) | |
| 13 | g.20223370C>T | CA6904508 | GJB6 | c.111G>A (p.Val37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 13 | g.20223371A= | CA2077160444 | GJB6 | c.110T= (p.Val37=) | |
| 13 | g.20223371A>C | CA387468829 | GJB6 | c.110T>G (p.Val37Gly) | |
| 13 | g.20223371A>G | CA387468830 | GJB6 | c.110T>C (p.Val37Ala) | |
| 13 | g.20223371A>T | CA253530 | GJB6 | c.110T>A (p.Val37Glu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |