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.74919988A>CCA400962967USH1Gc.848T>G (p.Val283Gly)
c.*447T>G (n.*447T>G)
c.539T>G (p.Val180Gly)
17g.74919988A>GCA400962968USH1Gc.848T>C (p.Val283Ala)
c.*447T>C (n.*447T>C)
c.539T>C (p.Val180Ala)
17g.74919988A>TCA400962970USH1Gc.848T>A (p.Val283Asp)
c.*447T>A (n.*447T>A)
c.539T>A (p.Val180Asp)
17g.74919989C>ACA400962976USH1Gc.847G>T (p.Val283Phe)
c.*446G>T (n.*446G>T)
c.538G>T (p.Val180Phe)
17g.74919989C=CA2275255373USH1Gc.847G= (p.Val283=)
c.*446G= (n.*446G=)
c.538G= (p.Val180=)
17g.74919989C>GCA400962974USH1Gc.847G>C (p.Val283Leu)
c.*446G>C (n.*446G>C)
c.538G>C (p.Val180Leu)
17g.74919989C>TCA400962975USH1Gc.847G>A (p.Val283Ile)
c.*446G>A (n.*446G>A)
c.538G>A (p.Val180Ile)
 ClinVar dbSNP gnomAD v4
17g.74919990G>ACA502036893USH1Gc.846C>T (p.Ser282=)
c.*445C>T (n.*445C>T)
c.537C>T (p.Ser179=)
 dbSNP gnomAD v2 gnomAD v4
17g.74919990G>CCA400962980USH1Gc.846C>G (p.Ser282Arg)
c.*445C>G (n.*445C>G)
c.537C>G (p.Ser179Arg)
17g.74919990G=CA2275255374USH1Gc.846C= (p.Ser282=)
c.*445C= (n.*445C=)
c.537C= (p.Ser179=)
17g.74919990G>TCA400962981USH1Gc.846C>A (p.Ser282Arg)
c.*445C>A (n.*445C>A)
c.537C>A (p.Ser179Arg)
 gnomAD v4
17g.74919991C>ACA400962983USH1Gc.845G>T (p.Ser282Ile)
c.*444G>T (n.*444G>T)
c.536G>T (p.Ser179Ile)
17g.74919991C=CA2275255375USH1Gc.845G= (p.Ser282=)
c.*444G= (n.*444G=)
c.536G= (p.Ser179=)
17g.74919991C>GCA8753987USH1Gc.845G>C (p.Ser282Thr)
c.*444G>C (n.*444G>C)
c.536G>C (p.Ser179Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919991C>TCA400962985USH1Gc.845G>A (p.Ser282Asn)
c.*444G>A (n.*444G>A)
c.536G>A (p.Ser179Asn)
17g.74919992T>ACA400962988USH1Gc.844A>T (p.Ser282Cys)
c.*443A>T (n.*443A>T)
c.535A>T (p.Ser179Cys)
17g.74919992T>CCA8753988USH1Gc.844A>G (p.Ser282Gly)
c.*443A>G (n.*443A>G)
c.535A>G (p.Ser179Gly)
 dbSNP ExAC gnomAD v3 gnomAD v4
17g.74919992T>GCA400962992USH1Gc.844A>C (p.Ser282Arg)
c.*443A>C (n.*443A>C)
c.535A>C (p.Ser179Arg)
17g.74919992T=CA2275255376USH1Gc.844A= (p.Ser282=)
c.*443A= (n.*443A=)
c.535A= (p.Ser179=)
17g.74919993G>ACA502036900USH1Gc.843C>T (p.Asp281=)
c.*442C>T (n.*442C>T)
c.534C>T (p.Asp178=)
17g.74919993G>CCA400962996USH1Gc.843C>G (p.Asp281Glu)
c.*442C>G (n.*442C>G)
c.534C>G (p.Asp178Glu)
17g.74919993G=CA2275255377USH1Gc.843C= (p.Asp281=)
c.*442C= (n.*442C=)
c.534C= (p.Asp178=)
17g.74919993G>TCA400962999USH1Gc.843C>A (p.Asp281Glu)
c.*442C>A (n.*442C>A)
c.534C>A (p.Asp178Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.74919994T>ACA400963001USH1Gc.842A>T (p.Asp281Val)
c.*441A>T (n.*441A>T)
c.533A>T (p.Asp178Val)
17g.74919994T>CCA400963004USH1Gc.842A>G (p.Asp281Gly)
c.*441A>G (n.*441A>G)
c.533A>G (p.Asp178Gly)
17g.74919994T>GCA400963007USH1Gc.842A>C (p.Asp281Ala)
c.*441A>C (n.*441A>C)
c.533A>C (p.Asp178Ala)
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)

Number of alleles fetched