Chr Mutation (hg38) CAid Gene Transcript Linkouts
13g.20189286_20189292dupCA2695217684GJB2c.292_298dup (p.His100ProfsTer4)
13g.20189287_20189288delCA2695217685GJB2c.296_297del (p.Arg99ThrfsTer2)
13g.20189286C>ACA387461452GJB2c.296G>T (p.Arg99Ile)
13g.20189286C=CA2077139642GJB2c.296G= (p.Arg99=)
13g.20189286C>GCA387461453GJB2c.296G>C (p.Arg99Thr)
13g.20189286C>TCA387461454GJB2c.296G>A (p.Arg99Lys)
dbSNP gnomAD v4
13g.20189287T>ACA387461455GJB2c.295A>T (p.Arg99Ter)
13g.20189287T>CCA387461456GJB2c.295A>G (p.Arg99Gly)
13g.20189287T>GCA483153747GJB2c.295A>C (p.Arg99=)
13g.20189287_20189292delinsCGGGCA2695217710GJB2c.290_295delinsCCCG (p.Tyr97SerfsTer4)
13g.20189288C>ACA483153748GJB2c.294G>T (p.Arg98=)
13g.20189288C=CA2077139645GJB2c.294G= (p.Arg98=)
13g.20189288C>GCA483153749GJB2c.294G>C (p.Arg98=)
ClinVar dbSNP
13g.20189288C>TCA483153750GJB2c.294G>A (p.Arg98=)
dbSNP gnomAD v2 gnomAD v4
13g.20189289C>ACA387461457GJB2c.293G>T (p.Arg98Leu)
13g.20189289C=CA2077139651GJB2c.293G= (p.Arg98=)
13g.20189289C>GCA387461458GJB2c.293G>C (p.Arg98Pro)
13g.20189289C>TCA6904287GJB2c.293G>A (p.Arg98Gln)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189290G>ACA6904288GJB2c.292C>T (p.Arg98Trp)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189290G>CCA387461459GJB2c.292C>G (p.Arg98Gly)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189290G=CA2077139653GJB2c.292C= (p.Arg98=)
13g.20189290G>TCA483153751GJB2c.292C>A (p.Arg98=)
13g.20189291G>ACA6904289GJB2c.291C>T (p.Tyr97=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189291G>CCA387461460GJB2c.291C>G (p.Tyr97Ter)
gnomAD v4
13g.20189291G=CA2077139659GJB2c.291C= (p.Tyr97=)
13g.20189291G>TCA387461461GJB2c.291C>A (p.Tyr97Ter)
13g.20189292T>ACA387461464GJB2c.290A>T (p.Tyr97Phe)
13g.20189292T>CCA387461462GJB2c.290A>G (p.Tyr97Cys)
13g.20189292T>GCA387461463GJB2c.290A>C (p.Tyr97Ser)
13g.20189292dupCA274000GJB2c.290dup (p.Tyr97Ter)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
13g.20189293A=CA2077139661GJB2c.289T= (p.Tyr97=)
13g.20189293A>CCA387461466GJB2c.289T>G (p.Tyr97Asp)
13g.20189293A>GCA387461465GJB2c.289T>C (p.Tyr97His)
dbSNP gnomAD v3 gnomAD v4
13g.20189293A>TCA387461467GJB2c.289T>A (p.Tyr97Asn)
13g.20189293_20189294insATGCCCATTAATTATTATTGAGCCCATTATTATTAATAAGCCCATTAAGGGCTGAGAAATAGATTTCTTTCCTTTCCTTTTCTTTTTTATATGAAATTAAATCA2622252295GJB2c.288_289insATTTAATTTCATATAAAAAAGAAAAGGAAAGGAAAGAAATCTATTTCTCAGCCCTTAATGGGCTTATTAATAATAATGGGCTCAATAATAATTAATGGGCAT
gnomAD v4
13g.20189294G>ACA6904290GJB2c.288C>T (p.Ala96=)
dbSNP ExAC gnomAD v2 gnomAD v4
13g.20189294G>CCA483153753GJB2c.288C>G (p.Ala96=)
13g.20189294G=CA2077139663GJB2c.288C= (p.Ala96=)
13g.20189294G>TCA483153752GJB2c.288C>A (p.Ala96=)
13g.20189295G>ACA387461468GJB2c.287C>T (p.Ala96Val)
13g.20189295G>CCA6904291GJB2c.287C>G (p.Ala96Gly)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
13g.20189295G=CA2077139666GJB2c.287C= (p.Ala96=)
13g.20189295G>TCA387461469GJB2c.287C>A (p.Ala96Asp)
13g.20189296C>ACA387461470GJB2c.286G>T (p.Ala96Ser)
13g.20189296C>GCA387461471GJB2c.286G>C (p.Ala96Pro)
13g.20189296C>TCA387461472GJB2c.286G>A (p.Ala96Thr)
gnomAD v4
13g.20189297C>ACA483153754GJB2c.285G>T (p.Val95=)
13g.20189297C=CA2077139668GJB2c.285G= (p.Val95=)
13g.20189297C>GCA483153756GJB2c.285G>C (p.Val95=)
13g.20189297C>TCA483153755GJB2c.285G>A (p.Val95=)

Number of alleles fetched