Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919984_74919999delCA2639747710USH1Gc.839_854del (p.Glu280ValfsTer?)
c.*438_*453del (n.*438_*453del)
c.530_545del (p.Glu177ValfsTer?)
 gnomAD v4
17g.74919984_74920004delinsGGAGACGCTGTCCTCGTCCGACA2275255370USH1Gc.832_852delinsTCGGACGAGGACAGCGTCTCC (p.Ser278=)
c.*431_*451delinsTCGGACGAGGACAGCGTCTCC (n.*431_*451delinsTCGGACGAGGACAGCGTCTCC)
c.523_543delinsTCGGACGAGGACAGCGTCTCC (p.Ser175=)
17g.74919988_74920007delCA340026USH1Gc.832_851del (p.Ser278ProfsTer?)
c.*431_*450del (n.*431_*450del)
c.523_542del (p.Ser175ProfsTer?)
 ClinVar dbSNP
17g.74919995C>ACA400963010USH1Gc.841G>T (p.Asp281Tyr)
c.*440G>T (n.*440G>T)
c.532G>T (p.Asp178Tyr)
17g.74919995C=CA2275255378USH1Gc.841G= (p.Asp281=)
c.*440G= (n.*440G=)
c.532G= (p.Asp178=)
17g.74919995C>GCA400963014USH1Gc.841G>C (p.Asp281His)
c.*440G>C (n.*440G>C)
c.532G>C (p.Asp178His)
17g.74919995C>TCA400963012USH1Gc.841G>A (p.Asp281Asn)
c.*440G>A (n.*440G>A)
c.532G>A (p.Asp178Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.74919996C>ACA400963016USH1Gc.840G>T (p.Glu280Asp)
c.*439G>T (n.*439G>T)
c.531G>T (p.Glu177Asp)
17g.74919996C=CA2275255379USH1Gc.840G= (p.Glu280=)
c.*439G= (n.*439G=)
c.531G= (p.Glu177=)
17g.74919996C>GCA400963018USH1Gc.840G>C (p.Glu280Asp)
c.*439G>C (n.*439G>C)
c.531G>C (p.Glu177Asp)
 gnomAD v4
17g.74919996C>TCA8753989USH1Gc.840G>A (p.Glu280=)
c.*439G>A (n.*439G>A)
c.531G>A (p.Glu177=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919997T>ACA400963021USH1Gc.839A>T (p.Glu280Val)
c.*438A>T (n.*438A>T)
c.530A>T (p.Glu177Val)
17g.74919997T>CCA8753990USH1Gc.839A>G (p.Glu280Gly)
c.*438A>G (n.*438A>G)
c.530A>G (p.Glu177Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919997T>GCA400963023USH1Gc.839A>C (p.Glu280Ala)
c.*438A>C (n.*438A>C)
c.530A>C (p.Glu177Ala)
17g.74919997T=CA2275255380USH1Gc.839A= (p.Glu280=)
c.*438A= (n.*438A=)
c.530A= (p.Glu177=)
17g.74919998C>ACA400963026USH1Gc.838G>T (p.Glu280Ter)
c.*437G>T (n.*437G>T)
c.529G>T (p.Glu177Ter)
17g.74919998C=CA2275255381USH1Gc.838G= (p.Glu280=)
c.*437G= (n.*437G=)
c.529G= (p.Glu177=)
17g.74919998C>GCA400963027USH1Gc.838G>C (p.Glu280Gln)
c.*437G>C (n.*437G>C)
c.529G>C (p.Glu177Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919998C>TCA8753991USH1Gc.838G>A (p.Glu280Lys)
c.*437G>A (n.*437G>A)
c.529G>A (p.Glu177Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74919999G>ACA502036911USH1Gc.837C>T (p.Asp279=)
c.*436C>T (n.*436C>T)
c.528C>T (p.Asp176=)
 dbSNP
17g.74919999G>CCA182580USH1Gc.837C>G (p.Asp279Glu)
c.*436C>G (n.*436C>G)
c.528C>G (p.Asp176Glu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919999G=CA2275255382USH1Gc.837C= (p.Asp279=)
c.*436C= (n.*436C=)
c.528C= (p.Asp176=)
17g.74919999G>TCA400963030USH1Gc.837C>A (p.Asp279Glu)
c.*436C>A (n.*436C>A)
c.528C>A (p.Asp176Glu)
17g.74920000T>ACA400963035USH1Gc.836A>T (p.Asp279Val)
c.*435A>T (n.*435A>T)
c.527A>T (p.Asp176Val)
17g.74920000T>CCA400963034USH1Gc.836A>G (p.Asp279Gly)
c.*435A>G (n.*435A>G)
c.527A>G (p.Asp176Gly)
17g.74920000T>GCA400963032USH1Gc.836A>C (p.Asp279Ala)
c.*435A>C (n.*435A>C)
c.527A>C (p.Asp176Ala)
17g.74920001C>ACA400963037USH1Gc.835G>T (p.Asp279Tyr)
c.*434G>T (n.*434G>T)
c.526G>T (p.Asp176Tyr)
17g.74920001C>GCA400963039USH1Gc.835G>C (p.Asp279His)
c.*434G>C (n.*434G>C)
c.526G>C (p.Asp176His)
17g.74920001C>TCA400963041USH1Gc.835G>A (p.Asp279Asn)
c.*434G>A (n.*434G>A)
c.526G>A (p.Asp176Asn)
 COSMIC
17g.74920002C>ACA502036917USH1Gc.834G>T (p.Ser278=)
c.*433G>T (n.*433G>T)
c.525G>T (p.Ser175=)
17g.74920002C=CA2275255383USH1Gc.834G= (p.Ser278=)
c.*433G= (n.*433G=)
c.525G= (p.Ser175=)
17g.74920002C>GCA502036918USH1Gc.834G>C (p.Ser278=)
c.*433G>C (n.*433G>C)
c.525G>C (p.Ser175=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920002C>TCA502036919USH1Gc.834G>A (p.Ser278=)
c.*433G>A (n.*433G>A)
c.525G>A (p.Ser175=)
 dbSNP gnomAD v4
17g.74920003G>ACA400963043USH1Gc.833C>T (p.Ser278Leu)
c.*432C>T (n.*432C>T)
c.524C>T (p.Ser175Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920003G>CCA400963045USH1Gc.833C>G (p.Ser278Trp)
c.*432C>G (n.*432C>G)
c.524C>G (p.Ser175Trp)
17g.74920003G=CA2275255384USH1Gc.833C= (p.Ser278=)
c.*432C= (n.*432C=)
c.524C= (p.Ser175=)
17g.74920003G>TCA400963046USH1Gc.833C>A (p.Ser278Ter)
c.*432C>A (n.*432C>A)
c.524C>A (p.Ser175Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.74920004A>CCA400963048USH1Gc.832T>G (p.Ser278Ala)
c.*431T>G (n.*431T>G)
c.523T>G (p.Ser175Ala)
17g.74920004A>GCA400963050USH1Gc.832T>C (p.Ser278Pro)
c.*431T>C (n.*431T>C)
c.523T>C (p.Ser175Pro)
17g.74920004A>TCA400963051USH1Gc.832T>A (p.Ser278Thr)
c.*431T>A (n.*431T>A)
c.523T>A (p.Ser175Thr)
17g.74920005G>ACA502036926USH1Gc.831C>T (p.Leu277=)
c.*430C>T (n.*430C>T)
c.522C>T (p.Leu174=)
17g.74920005G>CCA502036928USH1Gc.831C>G (p.Leu277=)
c.*430C>G (n.*430C>G)
c.522C>G (p.Leu174=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920005G=CA2275255385USH1Gc.831C= (p.Leu277=)
c.*430C= (n.*430C=)
c.522C= (p.Leu174=)
17g.74920005G>TCA502036929USH1Gc.831C>A (p.Leu277=)
c.*430C>A (n.*430C>A)
c.522C>A (p.Leu174=)
17g.74920006A>CCA400963053USH1Gc.830T>G (p.Leu277Arg)
c.*429T>G (n.*429T>G)
c.521T>G (p.Leu174Arg)
17g.74920006A>GCA400963055USH1Gc.830T>C (p.Leu277Pro)
c.*429T>C (n.*429T>C)
c.521T>C (p.Leu174Pro)
17g.74920006A>TCA400963057USH1Gc.830T>A (p.Leu277His)
c.*429T>A (n.*429T>A)
c.521T>A (p.Leu174His)
17g.74920007G>ACA293984107USH1Gc.829C>T (p.Leu277Phe)
c.*428C>T (n.*428C>T)
c.520C>T (p.Leu174Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920007G>CCA400963061USH1Gc.829C>G (p.Leu277Val)
c.*428C>G (n.*428C>G)
c.520C>G (p.Leu174Val)
 gnomAD v4
17g.74920007G=CA2275255386USH1Gc.829C= (p.Leu277=)
c.*428C= (n.*428C=)
c.520C= (p.Leu174=)

Number of alleles fetched