Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919888C>ACA502036644USH1Gc.948G>T (p.Val316=)
c.*547G>T (n.*547G>T)
c.639G>T (p.Val213=)
gnomAD v4
17g.74919888C=CA2275255319USH1Gc.948G= (p.Val316=)
c.*547G= (n.*547G=)
c.639G= (p.Val213=)
17g.74919888C>GCA502036643USH1Gc.948G>C (p.Val316=)
c.*547G>C (n.*547G>C)
c.639G>C (p.Val213=)
17g.74919888C>TCA8753963USH1Gc.948G>A (p.Val316=)
c.*547G>A (n.*547G>A)
c.639G>A (p.Val213=)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919889A=CA2275255320USH1Gc.947T= (p.Val316=)
c.*546T= (n.*546T=)
c.638T= (p.Val213=)
17g.74919889A>CCA400962371USH1Gc.947T>G (p.Val316Gly)
c.*546T>G (n.*546T>G)
c.638T>G (p.Val213Gly)
17g.74919889A>GCA400962373USH1Gc.947T>C (p.Val316Ala)
c.*546T>C (n.*546T>C)
c.638T>C (p.Val213Ala)
dbSNP
17g.74919889A>TCA8753964USH1Gc.947T>A (p.Val316Glu)
c.*546T>A (n.*546T>A)
c.638T>A (p.Val213Glu)
dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919890C>ACA400962382USH1Gc.946G>T (p.Val316Leu)
c.*545G>T (n.*545G>T)
c.637G>T (p.Val213Leu)
17g.74919890C>GCA400962384USH1Gc.946G>C (p.Val316Leu)
c.*545G>C (n.*545G>C)
c.637G>C (p.Val213Leu)
17g.74919890C>TCA400962379USH1Gc.946G>A (p.Val316Met)
c.*545G>A (n.*545G>A)
c.637G>A (p.Val213Met)
gnomAD v4
17g.74919891C>ACA400962387USH1Gc.945G>T (p.Met315Ile)
c.*544G>T (n.*544G>T)
c.636G>T (p.Met212Ile)
17g.74919891C>GCA400962390USH1Gc.945G>C (p.Met315Ile)
c.*544G>C (n.*544G>C)
c.636G>C (p.Met212Ile)
17g.74919891C>TCA400962391USH1Gc.945G>A (p.Met315Ile)
c.*544G>A (n.*544G>A)
c.636G>A (p.Met212Ile)
gnomAD v4
17g.74919892A=CA2275255321USH1Gc.944T= (p.Met315=)
c.*543T= (n.*543T=)
c.635T= (p.Met212=)
17g.74919892A>CCA400962393USH1Gc.944T>G (p.Met315Arg)
c.*543T>G (n.*543T>G)
c.635T>G (p.Met212Arg)
17g.74919892A>GCA400962395USH1Gc.944T>C (p.Met315Thr)
c.*543T>C (n.*543T>C)
c.635T>C (p.Met212Thr)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919892A>TCA400962397USH1Gc.944T>A (p.Met315Lys)
c.*543T>A (n.*543T>A)
c.635T>A (p.Met212Lys)
17g.74919893T>ACA400962401USH1Gc.943A>T (p.Met315Leu)
c.*542A>T (n.*542A>T)
c.634A>T (p.Met212Leu)
dbSNP gnomAD v2 gnomAD v4
17g.74919893T>CCA400962407USH1Gc.943A>G (p.Met315Val)
c.*542A>G (n.*542A>G)
c.634A>G (p.Met212Val)
17g.74919893T>GCA400962404USH1Gc.943A>C (p.Met315Leu)
c.*542A>C (n.*542A>C)
c.634A>C (p.Met212Leu)
17g.74919893T=CA2275255322USH1Gc.943A= (p.Met315=)
c.*542A= (n.*542A=)
c.634A= (p.Met212=)
17g.74919894G>ACA502036652USH1Gc.942C>T (p.Thr314=)
c.*541C>T (n.*541C>T)
c.633C>T (p.Thr211=)
dbSNP gnomAD v2 gnomAD v4
17g.74919894G>CCA502036653USH1Gc.942C>G (p.Thr314=)
c.*541C>G (n.*541C>G)
c.633C>G (p.Thr211=)
17g.74919894G=CA2275255323USH1Gc.942C= (p.Thr314=)
c.*541C= (n.*541C=)
c.633C= (p.Thr211=)
17g.74919894G>TCA8753965USH1Gc.942C>A (p.Thr314=)
c.*541C>A (n.*541C>A)
c.633C>A (p.Thr211=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919895G>ACA400962412USH1Gc.941C>T (p.Thr314Ile)
c.*540C>T (n.*540C>T)
c.632C>T (p.Thr211Ile)
gnomAD v4
17g.74919895G>CCA400962415USH1Gc.941C>G (p.Thr314Ser)
c.*540C>G (n.*540C>G)
c.632C>G (p.Thr211Ser)
17g.74919895G>TCA400962417USH1Gc.941C>A (p.Thr314Asn)
c.*540C>A (n.*540C>A)
c.632C>A (p.Thr211Asn)
gnomAD v4
17g.74919896T>ACA400962420USH1Gc.940A>T (p.Thr314Ser)
c.*539A>T (n.*539A>T)
c.631A>T (p.Thr211Ser)
17g.74919896T>CCA400962426USH1Gc.940A>G (p.Thr314Ala)
c.*539A>G (n.*539A>G)
c.631A>G (p.Thr211Ala)
17g.74919896T>GCA400962423USH1Gc.940A>C (p.Thr314Pro)
c.*539A>C (n.*539A>C)
c.631A>C (p.Thr211Pro)
dbSNP
17g.74919896T=CA2275255324USH1Gc.940A= (p.Thr314=)
c.*539A= (n.*539A=)
c.631A= (p.Thr211=)
17g.74919896_74919899delinsTGCCCA2275255325USH1Gc.937_940delinsGGCA (p.Gly313=)
c.*536_*539delinsGGCA (n.*536_*539delinsGGCA)
c.628_631delinsGGCA (p.Gly210=)
17g.74919897G>ACA502036654USH1Gc.939C>T (p.Gly313=)
c.*538C>T (n.*538C>T)
c.630C>T (p.Gly210=)
dbSNP
17g.74919897G>CCA502036656USH1Gc.939C>G (p.Gly313=)
c.*538C>G (n.*538C>G)
c.630C>G (p.Gly210=)
17g.74919897G=CA2275255326USH1Gc.939C= (p.Gly313=)
c.*538C= (n.*538C=)
c.630C= (p.Gly210=)
17g.74919897G>TCA502036657USH1Gc.939C>A (p.Gly313=)
c.*538C>A (n.*538C>A)
c.630C>A (p.Gly210=)
17g.74919897_74919899delCA986277652USH1Gc.937_939del (p.Gly313del)
c.*536_*538del (n.*536_*538del)
c.628_630del (p.Gly210del)
dbSNP gnomAD v3 gnomAD v4
17g.74919898C>ACA400962430USH1Gc.938G>T (p.Gly313Val)
c.*537G>T (n.*537G>T)
c.629G>T (p.Gly210Val)
17g.74919898C>GCA400962432USH1Gc.938G>C (p.Gly313Ala)
c.*537G>C (n.*537G>C)
c.629G>C (p.Gly210Ala)
17g.74919898C>TCA400962434USH1Gc.938G>A (p.Gly313Asp)
c.*537G>A (n.*537G>A)
c.629G>A (p.Gly210Asp)
17g.74919899C>ACA400962438USH1Gc.937G>T (p.Gly313Cys)
c.*536G>T (n.*536G>T)
c.628G>T (p.Gly210Cys)
17g.74919899C>GCA400962440USH1Gc.937G>C (p.Gly313Arg)
c.*536G>C (n.*536G>C)
c.628G>C (p.Gly210Arg)
17g.74919899C>TCA400962443USH1Gc.937G>A (p.Gly313Ser)
c.*536G>A (n.*536G>A)
c.628G>A (p.Gly210Ser)
17g.74919900C>ACA502036661USH1Gc.936G>T (p.Leu312=)
c.*535G>T (n.*535G>T)
c.627G>T (p.Leu209=)
17g.74919900C>GCA502036663USH1Gc.936G>C (p.Leu312=)
c.*535G>C (n.*535G>C)
c.627G>C (p.Leu209=)
17g.74919900C>TCA502036664USH1Gc.936G>A (p.Leu312=)
c.*535G>A (n.*535G>A)
c.627G>A (p.Leu209=)
17g.74919900_74919901delinsCACA2275255327USH1Gc.935_936delinsTG (p.Leu312=)
c.*534_*535delinsTG (n.*534_*535delinsTG)
c.626_627delinsTG (p.Leu209=)
17g.74919901delCA986277655USH1Gc.935del (p.Leu312ArgfsTer11)
c.*534del (n.*534del)
c.626del (p.Leu209ArgfsTer11)
dbSNP gnomAD v3 gnomAD v4

Number of alleles fetched