Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.215782070G>ACA262060USH2Ac.10712C>T (p.Thr3571Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215782070G>CCA344836239USH2Ac.10712C>G (p.Thr3571Arg)
1g.215782070G=CA1143531689USH2Ac.10712C= (p.Thr3571=)
1g.215782070G>TCA344836242USH2Ac.10712C>A (p.Thr3571Lys)
gnomAD v4
1g.215782071T>ACA344836253USH2Ac.10711A>T (p.Thr3571Ser)
1g.215782071T>CCA1393954USH2Ac.10711A>G (p.Thr3571Ala)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215782071T>GCA344836251USH2Ac.10711A>C (p.Thr3571Pro)
1g.215782071T=CA1220416674USH2Ac.10711A= (p.Thr3571=)
1g.215782072G>ACA423313205USH2Ac.10710C>T (p.Cys3570=)
1g.215782072G>CCA344836258USH2Ac.10710C>G (p.Cys3570Trp)
1g.215782072G>TCA344836260USH2Ac.10710C>A (p.Cys3570Ter)
1g.215782073C>ACA344836263USH2Ac.10709G>T (p.Cys3570Phe)
ClinVar
1g.215782073C>GCA344836264USH2Ac.10709G>C (p.Cys3570Ser)
1g.215782073C>TCA344836265USH2Ac.10709G>A (p.Cys3570Tyr)
gnomAD v4
1g.215782074A>CCA344836267USH2Ac.10708T>G (p.Cys3570Gly)
1g.215782074A>GCA344836274USH2Ac.10708T>C (p.Cys3570Arg)
1g.215782074A>TCA344836270USH2Ac.10708T>A (p.Cys3570Ser)
1g.215782075A>CCA423313207USH2Ac.10707T>G (p.Ala3569=)
1g.215782075A>GCA423313208USH2Ac.10707T>C (p.Ala3569=)
gnomAD v4
1g.215782075A>TCA423313210USH2Ac.10707T>A (p.Ala3569=)
1g.215782076G>ACA344836278USH2Ac.10706C>T (p.Ala3569Val)
1g.215782076G>CCA344836281USH2Ac.10706C>G (p.Ala3569Gly)
1g.215782076G>TCA344836283USH2Ac.10706C>A (p.Ala3569Asp)
1g.215782077C>ACA344836285USH2Ac.10705G>T (p.Ala3569Ser)
gnomAD v4
1g.215782077C=CA1220416678USH2Ac.10705G= (p.Ala3569=)
1g.215782077C>GCA1393955USH2Ac.10705G>C (p.Ala3569Pro)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.215782077C>TCA344836287USH2Ac.10705G>A (p.Ala3569Thr)
1g.215782078T>ACA344836288USH2Ac.10704A>T (p.Lys3568Asn)
1g.215782078T>CCA423313211USH2Ac.10704A>G (p.Lys3568=)
1g.215782078T>GCA344836289USH2Ac.10704A>C (p.Lys3568Asn)
1g.215782079T>ACA344836294USH2Ac.10703A>T (p.Lys3568Ile)
1g.215782079T>CCA344836297USH2Ac.10703A>G (p.Lys3568Arg)
1g.215782079T>GCA344836298USH2Ac.10703A>C (p.Lys3568Thr)
1g.215782080T>ACA37437327USH2Ac.10702A>T (p.Lys3568Ter)
ClinVar dbSNP
1g.215782080T>CCA344836300USH2Ac.10702A>G (p.Lys3568Glu)
1g.215782080T>GCA344836299USH2Ac.10702A>C (p.Lys3568Gln)
1g.215782080T=CA1220416681USH2Ac.10702A= (p.Lys3568=)
1g.215782081C>ACA423313213USH2Ac.10701G>T (p.Leu3567=)
1g.215782081C>GCA423313214USH2Ac.10701G>C (p.Leu3567=)
1g.215782081C>TCA423313215USH2Ac.10701G>A (p.Leu3567=)
ClinVar
1g.215782082A>CCA344836305USH2Ac.10700T>G (p.Leu3567Arg)
1g.215782082A>GCA344836307USH2Ac.10700T>C (p.Leu3567Pro)
1g.215782082A>TCA344836310USH2Ac.10700T>A (p.Leu3567Gln)
1g.215782082_215782083delinsAGCA1220416684USH2Ac.10699_10700delinsCT (p.Leu3567=)
1g.215782083delCA916082115USH2Ac.10699del (p.Leu3567Ter)
ClinVar dbSNP gnomAD v4
1g.215782083G>ACA423313217USH2Ac.10699C>T (p.Leu3567=)
1g.215782083G>CCA344836312USH2Ac.10699C>G (p.Leu3567Val)
1g.215782083G>TCA344836315USH2Ac.10699C>A (p.Leu3567Met)
1g.215782084C>ACA344836318USH2Ac.10698G>T (p.Gln3566His)
1g.215782084C>GCA344836319USH2Ac.10698G>C (p.Gln3566His)

Number of alleles fetched