Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
13 | g.20189286_20189292dup | CA2695217684 | GJB2 | c.292_298dup (p.His100ProfsTer4) | |
13 | g.20189287_20189288del | CA2695217685 | GJB2 | c.296_297del (p.Arg99ThrfsTer2) | |
13 | g.20189287T>A | CA387461455 | GJB2 | c.295A>T (p.Arg99Ter) | |
13 | g.20189287T>C | CA387461456 | GJB2 | c.295A>G (p.Arg99Gly) | |
13 | g.20189287T>G | CA483153747 | GJB2 | c.295A>C (p.Arg99=) | |
13 | g.20189287_20189292delinsCGGG | CA2695217710 | GJB2 | c.290_295delinsCCCG (p.Tyr97SerfsTer4) | |
13 | g.20189288C>A | CA483153748 | GJB2 | c.294G>T (p.Arg98=) | |
13 | g.20189288C= | CA2077139645 | GJB2 | c.294G= (p.Arg98=) | |
13 | g.20189288C>G | CA483153749 | GJB2 | c.294G>C (p.Arg98=) | ClinVar dbSNP |
13 | g.20189288C>T | CA483153750 | GJB2 | c.294G>A (p.Arg98=) | dbSNP gnomAD v2 gnomAD v4 |
13 | g.20189289C>A | CA387461457 | GJB2 | c.293G>T (p.Arg98Leu) | |
13 | g.20189289C= | CA2077139651 | GJB2 | c.293G= (p.Arg98=) | |
13 | g.20189289C>G | CA387461458 | GJB2 | c.293G>C (p.Arg98Pro) | |
13 | g.20189289C>T | CA6904287 | GJB2 | c.293G>A (p.Arg98Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G>A | CA6904288 | GJB2 | c.292C>T (p.Arg98Trp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G>C | CA387461459 | GJB2 | c.292C>G (p.Arg98Gly) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189290G= | CA2077139653 | GJB2 | c.292C= (p.Arg98=) | |
13 | g.20189290G>T | CA483153751 | GJB2 | c.292C>A (p.Arg98=) | |
13 | g.20189291G>A | CA6904289 | GJB2 | c.291C>T (p.Tyr97=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189291G>C | CA387461460 | GJB2 | c.291C>G (p.Tyr97Ter) | gnomAD v4 |
13 | g.20189291G= | CA2077139659 | GJB2 | c.291C= (p.Tyr97=) | |
13 | g.20189291G>T | CA387461461 | GJB2 | c.291C>A (p.Tyr97Ter) | |
13 | g.20189292T>A | CA387461464 | GJB2 | c.290A>T (p.Tyr97Phe) | |
13 | g.20189292T>C | CA387461462 | GJB2 | c.290A>G (p.Tyr97Cys) | |
13 | g.20189292T>G | CA387461463 | GJB2 | c.290A>C (p.Tyr97Ser) | |
13 | g.20189292dup | CA274000 | GJB2 | c.290dup (p.Tyr97Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189293A= | CA2077139661 | GJB2 | c.289T= (p.Tyr97=) | |
13 | g.20189293A>C | CA387461466 | GJB2 | c.289T>G (p.Tyr97Asp) | |
13 | g.20189293A>G | CA387461465 | GJB2 | c.289T>C (p.Tyr97His) | dbSNP gnomAD v3 gnomAD v4 |
13 | g.20189293A>T | CA387461467 | GJB2 | c.289T>A (p.Tyr97Asn) | |
13 | g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAAT | CA2622252295 | GJB2 | c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT | gnomAD v4 |
13 | g.20189294G>A | CA6904290 | GJB2 | c.288C>T (p.Ala96=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
13 | g.20189294G>C | CA483153753 | GJB2 | c.288C>G (p.Ala96=) | |
13 | g.20189294G= | CA2077139663 | GJB2 | c.288C= (p.Ala96=) | |
13 | g.20189294G>T | CA483153752 | GJB2 | c.288C>A (p.Ala96=) | |
13 | g.20189295G>A | CA387461468 | GJB2 | c.287C>T (p.Ala96Val) | |
13 | g.20189295G>C | CA6904291 | GJB2 | c.287C>G (p.Ala96Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189295G= | CA2077139666 | GJB2 | c.287C= (p.Ala96=) | |
13 | g.20189295G>T | CA387461469 | GJB2 | c.287C>A (p.Ala96Asp) | |
13 | g.20189296C>A | CA387461470 | GJB2 | c.286G>T (p.Ala96Ser) | |
13 | g.20189296C>G | CA387461471 | GJB2 | c.286G>C (p.Ala96Pro) | |
13 | g.20189296C>T | CA387461472 | GJB2 | c.286G>A (p.Ala96Thr) | gnomAD v4 |
13 | g.20189297C>A | CA483153754 | GJB2 | c.285G>T (p.Val95=) | |
13 | g.20189297C= | CA2077139668 | GJB2 | c.285G= (p.Val95=) | |
13 | g.20189297C>G | CA483153756 | GJB2 | c.285G>C (p.Val95=) | |
13 | g.20189297C>T | CA483153755 | GJB2 | c.285G>A (p.Val95=) | |
13 | g.20189298A= | CA2077139671 | GJB2 | c.284T= (p.Val95=) | |
13 | g.20189298A>C | CA387461473 | GJB2 | c.284T>G (p.Val95Gly) | |
13 | g.20189298A>G | CA387461474 | GJB2 | c.284T>C (p.Val95Ala) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
13 | g.20189298A>T | CA387461475 | GJB2 | c.284T>A (p.Val95Glu) | dbSNP gnomAD v3 gnomAD v4 |