Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.215648587_215648600delCA2650500259USH2Ac.14512_14525del (p.Gly4838LysfsTer21)
dbSNP gnomAD v4
1g.215648591A=CA1141919606USH2Ac.14519T= (p.Leu4840=)
dbSNP
1g.215648591A>CCA344833366USH2Ac.14519T>G (p.Leu4840Arg)
1g.215648591A>GCA143360USH2Ac.14519T>C (p.Leu4840Pro)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215648591A>TCA344833369USH2Ac.14519T>A (p.Leu4840Gln)
1g.215648592G>ACA423425529USH2Ac.14518C>T (p.Leu4840=)
ClinVar dbSNP gnomAD v4
1g.215648592G>CCA344833374USH2Ac.14518C>G (p.Leu4840Val)
1g.215648592G=CA1220363176USH2Ac.14518C= (p.Leu4840=)
dbSNP
1g.215648592G>TCA344833377USH2Ac.14518C>A (p.Leu4840Met)
1g.215648593C>ACA1393005USH2Ac.14517G>T (p.Thr4839=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.215648593C=CA1144229138USH2Ac.14517G= (p.Thr4839=)
dbSNP
1g.215648593C>GCA423425531USH2Ac.14517G>C (p.Thr4839=)
1g.215648593C>TCA143358USH2Ac.14517G>A (p.Thr4839=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.215648594G>ACA143356USH2Ac.14516C>T (p.Thr4839Met)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.215648594G>CCA344833383USH2Ac.14516C>G (p.Thr4839Arg)
1g.215648594G=CA1141657871USH2Ac.14516C= (p.Thr4839=)
dbSNP
1g.215648594G>TCA344833385USH2Ac.14516C>A (p.Thr4839Lys)
COSMIC COSMIC
1g.215648594_215648599dupCA3246640814USH2Ac.14511_14516dup (p.Thr4839_Leu4840insGlyThr)
ClinVar
1g.215648595T>ACA344833387USH2Ac.14515A>T (p.Thr4839Ser)
1g.215648595T>CCA344833394USH2Ac.14515A>G (p.Thr4839Ala)
1g.215648595T>GCA344833396USH2Ac.14515A>C (p.Thr4839Pro)
1g.215648596C>ACA423425534USH2Ac.14514G>T (p.Gly4838=)
1g.215648596C>GCA423425536USH2Ac.14514G>C (p.Gly4838=)
1g.215648596C>TCA423425538USH2Ac.14514G>A (p.Gly4838=)
ClinVar
1g.215648597C>ACA1393006USH2Ac.14513G>T (p.Gly4838Val)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215648597C=CA1140614952USH2Ac.14513G= (p.Gly4838=)
dbSNP
1g.215648597C>GCA344833401USH2Ac.14513G>C (p.Gly4838Ala)
1g.215648597C>TCA143354USH2Ac.14513G>A (p.Gly4838Glu)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215648598C>ACA344833409USH2Ac.14512G>T (p.Gly4838Trp)
dbSNP gnomAD v4
1g.215648598C=CA1144679276USH2Ac.14512G= (p.Gly4838=)
dbSNP
1g.215648598C>GCA344833407USH2Ac.14512G>C (p.Gly4838Arg)
1g.215648598C>TCA1393007USH2Ac.14512G>A (p.Gly4838Arg)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
1g.215648599G>ACA1393008USH2Ac.14511C>T (p.Ile4837=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
1g.215648599G>CCA344833413USH2Ac.14511C>G (p.Ile4837Met)
1g.215648599G=CA1141706556USH2Ac.14511C= (p.Ile4837=)
dbSNP
1g.215648599G>TCA423425543USH2Ac.14511C>A (p.Ile4837=)
1g.215648600A=CA3077339190USH2Ac.14510T= (p.Ile4837=)
dbSNP
1g.215648600A>CCA344833415USH2Ac.14510T>G (p.Ile4837Ser)
1g.215648600A>GCA344833417USH2Ac.14510T>C (p.Ile4837Thr)
dbSNP gnomAD v4
1g.215648600A>TCA344833418USH2Ac.14510T>A (p.Ile4837Asn)
1g.215648601T>ACA344833420USH2Ac.14509A>T (p.Ile4837Phe)
1g.215648601T>CCA344833423USH2Ac.14509A>G (p.Ile4837Val)
ClinVar
1g.215648601T>GCA344833425USH2Ac.14509A>C (p.Ile4837Leu)
1g.215648602T>ACA344833427USH2Ac.14508A>T (p.Gln4836His)
1g.215648602T>CCA423425547USH2Ac.14508A>G (p.Gln4836=)
1g.215648602T>GCA344833430USH2Ac.14508A>C (p.Gln4836His)
1g.215648603T>ACA344833434USH2Ac.14507A>T (p.Gln4836Leu)
1g.215648603T>CCA1393009USH2Ac.14507A>G (p.Gln4836Arg)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.215648603T>GCA344833437USH2Ac.14507A>C (p.Gln4836Pro)
1g.215648603T=CA1143415420USH2Ac.14507A= (p.Gln4836=)
dbSNP

Number of alleles fetched