Chr Mutation (hg38) CAid Gene Transcript Linkouts
Xg.71223657_71223971delCA2739273574GJB1c.-16-35_264del
Xg.71223750delCA915951169GJB1c.43del (p.Arg15GlyfsTer?)
ClinVar dbSNP
Xg.71223750C>ACA516718531GJB1c.43C>A (p.Arg15=)
Xg.71223750C=CA2436388104GJB1c.43C= (p.Arg15=)
Xg.71223750C>GCA413499515GJB1c.43C>G (p.Arg15Gly)
Xg.71223750C>TCA333982GJB1c.43C>T (p.Arg15Trp)
ClinVar dbSNP
Xg.71223751G>ACA279084GJB1c.44G>A (p.Arg15Gln)
ClinVar dbSNP gnomAD v4
Xg.71223751G>CCA413499524GJB1c.44G>C (p.Arg15Pro)
ClinVar
Xg.71223751G=CA2436388105GJB1c.44G= (p.Arg15=)
Xg.71223751G>TCA413499527GJB1c.44G>T (p.Arg15Leu)
Xg.71223751_71223752delinsGGCA2436388106GJB1c.44_45delinsGG (p.Arg15=)
Xg.71223751_71223752delinsTTCA915951171GJB1c.44_45delinsTT (p.Arg15Leu)
ClinVar dbSNP
Xg.71223754_71223770delCA2695234555GJB1c.47_63del (p.His16ProfsTer25)
Xg.71223752G>ACA516718543GJB1c.45G>A (p.Arg15=)
dbSNP gnomAD v4
Xg.71223752G>CCA516718546GJB1c.45G>C (p.Arg15=)
Xg.71223752G=CA2436388107GJB1c.45G= (p.Arg15=)
Xg.71223752G>TCA516718549GJB1c.45G>T (p.Arg15=)
Xg.71223753C>ACA413499529GJB1c.46C>A (p.His16Asn)
Xg.71223753C>GCA413499532GJB1c.46C>G (p.His16Asp)
ClinVar dbSNP
Xg.71223753C>TCA413499533GJB1c.46C>T (p.His16Tyr)
Xg.71223754A=CA2436388108GJB1c.47A= (p.His16=)
Xg.71223754A>CCA413499537GJB1c.47A>C (p.His16Pro)
ClinVar dbSNP
Xg.71223754A>GCA413499542GJB1c.47A>G (p.His16Arg)
ClinVar dbSNP
Xg.71223754A>TCA413499545GJB1c.47A>T (p.His16Leu)
ClinVar dbSNP
Xg.71223755T>ACA413499550GJB1c.48T>A (p.His16Gln)
Xg.71223755T>CCA516718561GJB1c.48T>C (p.His16=)
ClinVar dbSNP gnomAD v2 gnomAD v4
Xg.71223755T>GCA413499547GJB1c.48T>G (p.His16Gln)
ClinVar dbSNP
Xg.71223755T=CA2436388109GJB1c.48T= (p.His16=)
Xg.71223756T>ACA413499552GJB1c.49T>A (p.Ser17Thr)
Xg.71223756T>CCA413499555GJB1c.49T>C (p.Ser17Pro)
Xg.71223756T>GCA413499557GJB1c.49T>G (p.Ser17Ala)
Xg.71223756_71223759delinsTCTACA2436388110GJB1c.49_52delinsTCTA (p.Ser17=)
Xg.71223757C>ACA413499560GJB1c.50C>A (p.Ser17Tyr)
ClinVar dbSNP
Xg.71223757C=CA2436388111GJB1c.50C= (p.Ser17=)
Xg.71223757C>GCA413499562GJB1c.50C>G (p.Ser17Cys)
ClinVar dbSNP
Xg.71223757C>TCA413499563GJB1c.50C>T (p.Ser17Phe)
Xg.71223759_71223761delCA916081269GJB1c.52_54del (p.Thr18del)
ClinVar dbSNP
Xg.71223758T>ACA516718577GJB1c.51T>A (p.Ser17=)
Xg.71223758T>CCA516718580GJB1c.51T>C (p.Ser17=)
Xg.71223758T>GCA516718582GJB1c.51T>G (p.Ser17=)
Xg.71223759A=CA2436388112GJB1c.52A= (p.Thr18=)
Xg.71223759A>CCA413500635GJB1c.52A>C (p.Thr18Pro)
Xg.71223759A>GCA413500626GJB1c.52A>G (p.Thr18Ala)
ClinVar dbSNP
Xg.71223759A>TCA413500633GJB1c.52A>T (p.Thr18Ser)
ClinVar
Xg.71223760C>ACA413500637GJB1c.53C>A (p.Thr18Asn)
Xg.71223760C=CA2436388113GJB1c.53C= (p.Thr18=)
Xg.71223760C>GCA413500639GJB1c.53C>G (p.Thr18Ser)
ClinVar dbSNP
Xg.71223760C>TCA413500641GJB1c.53C>T (p.Thr18Ile)
Xg.71223761T>ACA516820999GJB1c.54T>A (p.Thr18=)
Xg.71223761T>CCA516821003GJB1c.54T>C (p.Thr18=)
ClinVar gnomAD v4

Number of alleles fetched