Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.216418539_216418680delinsTTCACAAGAATTCTCCCCAGTGTCATTACTTTTATTGGAGGTTGCAAACCATTTACTGTGCGATAATAAAACATGGTCTCTTTCTCAGATATTGTAAGTTTGAACACAATCTGCCCATCTACTGTCTTTTCTATAACACACCCA1220688185USH2Ac.486-1_626delinsGGTGTGTTATAGAAAAGACAGTAGATGGGCAGATTGTGTTCAAACTTACAATATCTGAGAAAGAGACCATGTTTTATTATCGCACAGTAAATGGTTTGCAACCTCCAATAAAAGTAATGACACTGGGGAGAATTCTTGTGAA
1g.216418541_216418681delCA915942016USH2Ac.486-1_625del
ClinVar dbSNP
1g.216418542_216418680delCA2573132657USH2Ac.486_624del
ClinVar dbSNP
1g.216418575G>ACA344902425USH2Ac.590C>T (p.Pro197Leu)
1g.216418575G>CCA344902429USH2Ac.590C>G (p.Pro197Arg)
dbSNP gnomAD v4
1g.216418575G=CA1220688247USH2Ac.590C= (p.Pro197=)
1g.216418575G>TCA344902427USH2Ac.590C>A (p.Pro197Gln)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216418576G>ACA37921744USH2Ac.589C>T (p.Pro197Ser)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.216418576G>CCA1396745USH2Ac.589C>G (p.Pro197Ala)
dbSNP ExAC gnomAD v2 gnomAD v4
1g.216418576G=CA1147450930USH2Ac.589C= (p.Pro197=)
1g.216418576G>TCA344902435USH2Ac.589C>A (p.Pro197Thr)
1g.216418576_216418577insGACA2586968314USH2Ac.588_589insTC (p.Pro197SerfsTer3)
1g.216418577A>CCA423396247USH2Ac.588T>G (p.Pro196=)
1g.216418577A>GCA423396248USH2Ac.588T>C (p.Pro196=)
1g.216418577A>TCA423396249USH2Ac.588T>A (p.Pro196=)
1g.216418578G>ACA344902437USH2Ac.587C>T (p.Pro196Leu)
gnomAD v4
1g.216418578G>CCA344902439USH2Ac.587C>G (p.Pro196Arg)
1g.216418578G>TCA344902442USH2Ac.587C>A (p.Pro196His)
1g.216418579G>ACA1396746USH2Ac.586C>T (p.Pro196Ser)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.216418579G>CCA344902446USH2Ac.586C>G (p.Pro196Ala)
1g.216418579G=CA1220688255USH2Ac.586C= (p.Pro196=)
1g.216418579G>TCA344902448USH2Ac.586C>A (p.Pro196Thr)
gnomAD v4
1g.216418580T>ACA344902451USH2Ac.585A>T (p.Gln195His)
1g.216418580T>CCA423396251USH2Ac.585A>G (p.Gln195=)
1g.216418580T>GCA344902453USH2Ac.585A>C (p.Gln195His)
1g.216418581T>ACA344902460USH2Ac.584A>T (p.Gln195Leu)
1g.216418581T>CCA344902456USH2Ac.584A>G (p.Gln195Arg)
1g.216418581T>GCA344902458USH2Ac.584A>C (p.Gln195Pro)
1g.216418582G>ACA344902463USH2Ac.583C>T (p.Gln195Ter)
1g.216418582G>CCA344902465USH2Ac.583C>G (p.Gln195Glu)
1g.216418582G>TCA344902467USH2Ac.583C>A (p.Gln195Lys)
1g.216418583C>ACA344902470USH2Ac.582G>T (p.Leu194Phe)
dbSNP gnomAD v2 gnomAD v4
1g.216418583C=CA1220688263USH2Ac.582G= (p.Leu194=)
1g.216418583C>GCA344902471USH2Ac.582G>C (p.Leu194Phe)
1g.216418583C>TCA423396252USH2Ac.582G>A (p.Leu194=)
1g.216418584A>CCA344902475USH2Ac.581T>G (p.Leu194Trp)
1g.216418584A>GCA344902476USH2Ac.581T>C (p.Leu194Ser)
1g.216418584A>TCA344902477USH2Ac.581T>A (p.Leu194Ter)
1g.216418585A>CCA344902478USH2Ac.580T>G (p.Leu194Val)
1g.216418585A>GCA423396253USH2Ac.580T>C (p.Leu194=)
ClinVar dbSNP gnomAD v4
1g.216418585A>TCA344902479USH2Ac.580T>A (p.Leu194Met)
1g.216418586A=CA1220688267USH2Ac.579T= (p.Gly193=)
1g.216418586A>CCA1396747USH2Ac.579T>G (p.Gly193=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.216418586A>GCA423396254USH2Ac.579T>C (p.Gly193=)
1g.216418586A>TCA423396255USH2Ac.579T>A (p.Gly193=)
1g.216418587C>ACA344902482USH2Ac.578G>T (p.Gly193Val)
1g.216418587C=CA1220688270USH2Ac.578G= (p.Gly193=)
1g.216418587C>GCA344902481USH2Ac.578G>C (p.Gly193Ala)
1g.216418587C>TCA344902480USH2Ac.578G>A (p.Gly193Asp)
dbSNP gnomAD v2 gnomAD v4
1g.216418588C>ACA344902485USH2Ac.577G>T (p.Gly193Cys)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched