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.74919983G>ACA400962936USH1Gc.853C>T (p.Arg285Cys)
c.*452C>T (n.*452C>T)
c.544C>T (p.Arg182Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919983G>CCA400962938USH1Gc.853C>G (p.Arg285Gly)
c.*452C>G (n.*452C>G)
c.544C>G (p.Arg182Gly)
17g.74919983G=CA2275255369USH1Gc.853C= (p.Arg285=)
c.*452C= (n.*452C=)
c.544C= (p.Arg182=)
17g.74919983G>TCA400962941USH1Gc.853C>A (p.Arg285Ser)
c.*452C>A (n.*452C>A)
c.544C>A (p.Arg182Ser)
17g.74919984G>ACA502036875USH1Gc.852C>T (p.Ser284=)
c.*451C>T (n.*451C>T)
c.543C>T (p.Ser181=)
 COSMIC
17g.74919984G>CCA502036876USH1Gc.852C>G (p.Ser284=)
c.*451C>G (n.*451C>G)
c.543C>G (p.Ser181=)
17g.74919984G>TCA502036878USH1Gc.852C>A (p.Ser284=)
c.*451C>A (n.*451C>A)
c.543C>A (p.Ser181=)
17g.74919984_74920004delinsGGAGACGCTGTCCTCGTCCGACA2275255370USH1Gc.832_852delinsTCGGACGAGGACAGCGTCTCC (p.Ser278=)
c.*431_*451delinsTCGGACGAGGACAGCGTCTCC (n.*431_*451delinsTCGGACGAGGACAGCGTCTCC)
c.523_543delinsTCGGACGAGGACAGCGTCTCC (p.Ser175=)
17g.74919985G>ACA400962945USH1Gc.851C>T (p.Ser284Phe)
c.*450C>T (n.*450C>T)
c.542C>T (p.Ser181Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919985G>CCA400962947USH1Gc.851C>G (p.Ser284Cys)
c.*450C>G (n.*450C>G)
c.542C>G (p.Ser181Cys)
 ClinVar dbSNP
17g.74919985G=CA2275255371USH1Gc.851C= (p.Ser284=)
c.*450C= (n.*450C=)
c.542C= (p.Ser181=)
17g.74919985G>TCA400962951USH1Gc.851C>A (p.Ser284Tyr)
c.*450C>A (n.*450C>A)
c.542C>A (p.Ser181Tyr)
17g.74919988_74920007delCA340026USH1Gc.832_851del (p.Ser278ProfsTer?)
c.*431_*450del (n.*431_*450del)
c.523_542del (p.Ser175ProfsTer?)
 ClinVar dbSNP
17g.74919986A>CCA400962957USH1Gc.850T>G (p.Ser284Ala)
c.*449T>G (n.*449T>G)
c.541T>G (p.Ser181Ala)
17g.74919986A>GCA400962960USH1Gc.850T>C (p.Ser284Pro)
c.*449T>C (n.*449T>C)
c.541T>C (p.Ser181Pro)
17g.74919986A>TCA400962959USH1Gc.850T>A (p.Ser284Thr)
c.*449T>A (n.*449T>A)
c.541T>A (p.Ser181Thr)
17g.74919987G>ACA8753986USH1Gc.849C>T (p.Val283=)
c.*448C>T (n.*448C>T)
c.540C>T (p.Val180=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919987G>CCA502036885USH1Gc.849C>G (p.Val283=)
c.*448C>G (n.*448C>G)
c.540C>G (p.Val180=)
17g.74919987G=CA2275255372USH1Gc.849C= (p.Val283=)
c.*448C= (n.*448C=)
c.540C= (p.Val180=)
17g.74919987G>TCA502036886USH1Gc.849C>A (p.Val283=)
c.*448C>A (n.*448C>A)
c.540C>A (p.Val180=)
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)
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=)
17g.74920007G>TCA400963059USH1Gc.829C>A (p.Leu277Ile)
c.*428C>A (n.*428C>A)
c.520C>A (p.Leu174Ile)
17g.74920008G>ACA502036932USH1Gc.828C>T (p.Phe276=)
c.*427C>T (n.*427C>T)
c.519C>T (p.Phe173=)
17g.74920008G>CCA400963064USH1Gc.828C>G (p.Phe276Leu)
c.*427C>G (n.*427C>G)
c.519C>G (p.Phe173Leu)
17g.74920008G>TCA400963065USH1Gc.828C>A (p.Phe276Leu)
c.*427C>A (n.*427C>A)
c.519C>A (p.Phe173Leu)
17g.74920009A>CCA400963067USH1Gc.827T>G (p.Phe276Cys)
c.*426T>G (n.*426T>G)
c.518T>G (p.Phe173Cys)
17g.74920009A>GCA400963069USH1Gc.827T>C (p.Phe276Ser)
c.*426T>C (n.*426T>C)
c.518T>C (p.Phe173Ser)
17g.74920009A>TCA400963070USH1Gc.827T>A (p.Phe276Tyr)
c.*426T>A (n.*426T>A)
c.518T>A (p.Phe173Tyr)
17g.74920010A=CA2275255387USH1Gc.826T= (p.Phe276=)
c.*425T= (n.*425T=)
c.517T= (p.Phe173=)
17g.74920010A>CCA400963073USH1Gc.826T>G (p.Phe276Val)
c.*425T>G (n.*425T>G)
c.517T>G (p.Phe173Val)
17g.74920010A>GCA400963072USH1Gc.826T>C (p.Phe276Leu)
c.*425T>C (n.*425T>C)
c.517T>C (p.Phe173Leu)
 dbSNP gnomAD v4
17g.74920010A>TCA400963071USH1Gc.826T>A (p.Phe276Ile)
c.*425T>A (n.*425T>A)
c.517T>A (p.Phe173Ile)
17g.74920011C>ACA400963076USH1Gc.825G>T (p.Met275Ile)
c.*424G>T (n.*424G>T)
c.516G>T (p.Met172Ile)
 ClinVar dbSNP gnomAD v4
17g.74920011C=CA2275255388USH1Gc.825G= (p.Met275=)
c.*424G= (n.*424G=)
c.516G= (p.Met172=)
17g.74920011C>GCA400963078USH1Gc.825G>C (p.Met275Ile)
c.*424G>C (n.*424G>C)
c.516G>C (p.Met172Ile)
 gnomAD v4
17g.74920011C>TCA400963080USH1Gc.825G>A (p.Met275Ile)
c.*424G>A (n.*424G>A)
c.516G>A (p.Met172Ile)
17g.74920012A>CCA400963083USH1Gc.824T>G (p.Met275Arg)
c.*423T>G (n.*423T>G)
c.515T>G (p.Met172Arg)
17g.74920012A>GCA400963086USH1Gc.824T>C (p.Met275Thr)
c.*423T>C (n.*423T>C)
c.515T>C (p.Met172Thr)
17g.74920012A>TCA400963089USH1Gc.824T>A (p.Met275Lys)
c.*423T>A (n.*423T>A)
c.515T>A (p.Met172Lys)
17g.74920013T>ACA400963095USH1Gc.823A>T (p.Met275Leu)
c.*422A>T (n.*422A>T)
c.514A>T (p.Met172Leu)
17g.74920013T>CCA400963091USH1Gc.823A>G (p.Met275Val)
c.*422A>G (n.*422A>G)
c.514A>G (p.Met172Val)
17g.74920013T>GCA400963093USH1Gc.823A>C (p.Met275Leu)
c.*422A>C (n.*422A>C)
c.514A>C (p.Met172Leu)
17g.74920014G>ACA502036947USH1Gc.822C>T (p.Asp274=)
c.*421C>T (n.*421C>T)
c.513C>T (p.Asp171=)
17g.74920014G>CCA400963101USH1Gc.822C>G (p.Asp274Glu)
c.*421C>G (n.*421C>G)
c.513C>G (p.Asp171Glu)
17g.74920014G>TCA400963103USH1Gc.822C>A (p.Asp274Glu)
c.*421C>A (n.*421C>A)
c.513C>A (p.Asp171Glu)
 COSMIC
17g.74920014_74920015insAGGCA2639747806USH1Gc.822_823insCTC (p.Asp274_Met275insLeu)
c.*421_*422insCTC (n.*421_*422insCTC)
c.513_514insCTC (p.Asp171_Met172insLeu)
 gnomAD v4
17g.74920015T>ACA400963106USH1Gc.821A>T (p.Asp274Val)
c.*420A>T (n.*420A>T)
c.512A>T (p.Asp171Val)
17g.74920015T>CCA8753992USH1Gc.821A>G (p.Asp274Gly)
c.*420A>G (n.*420A>G)
c.512A>G (p.Asp171Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920015T>GCA400963110USH1Gc.821A>C (p.Asp274Ala)
c.*420A>C (n.*420A>C)
c.512A>C (p.Asp171Ala)
 gnomAD v4
17g.74920015T=CA2275255389USH1Gc.821A= (p.Asp274=)
c.*420A= (n.*420A=)
c.512A= (p.Asp171=)
17g.74920016C>ACA400963114USH1Gc.820G>T (p.Asp274Tyr)
c.*419G>T (n.*419G>T)
c.511G>T (p.Asp171Tyr)
17g.74920016C>GCA400963116USH1Gc.820G>C (p.Asp274His)
c.*419G>C (n.*419G>C)
c.511G>C (p.Asp171His)
17g.74920016C>TCA400963118USH1Gc.820G>A (p.Asp274Asn)
c.*419G>A (n.*419G>A)
c.511G>A (p.Asp171Asn)
 gnomAD v4
17g.74920017C>ACA502036949USH1Gc.819G>T (p.Arg273=)
c.*418G>T (n.*418G>T)
c.510G>T (p.Arg170=)
17g.74920017C>GCA502036953USH1Gc.819G>C (p.Arg273=)
c.*418G>C (n.*418G>C)
c.510G>C (p.Arg170=)
 gnomAD v4
17g.74920017C>TCA502036951USH1Gc.819G>A (p.Arg273=)
c.*418G>A (n.*418G>A)
c.510G>A (p.Arg170=)
17g.74920018C>ACA400963123USH1Gc.818G>T (p.Arg273Leu)
c.*417G>T (n.*417G>T)
c.509G>T (p.Arg170Leu)
17g.74920018C=CA2275255390USH1Gc.818G= (p.Arg273=)
c.*417G= (n.*417G=)
c.509G= (p.Arg170=)
17g.74920018C>GCA400963125USH1Gc.818G>C (p.Arg273Pro)
c.*417G>C (n.*417G>C)
c.509G>C (p.Arg170Pro)
 gnomAD v4
17g.74920018C>TCA8753993USH1Gc.818G>A (p.Arg273Gln)
c.*417G>A (n.*417G>A)
c.509G>A (p.Arg170Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920019G>ACA8753994USH1Gc.817C>T (p.Arg273Trp)
c.*416C>T (n.*416C>T)
c.508C>T (p.Arg170Trp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920019G>CCA400963132USH1Gc.817C>G (p.Arg273Gly)
c.*416C>G (n.*416C>G)
c.508C>G (p.Arg170Gly)
17g.74920019G=CA2275255391USH1Gc.817C= (p.Arg273=)
c.*416C= (n.*416C=)
c.508C= (p.Arg170=)
17g.74920019G>TCA502036955USH1Gc.817C>A (p.Arg273=)
c.*416C>A (n.*416C>A)
c.508C>A (p.Arg170=)
17g.74920020G>ACA502036958USH1Gc.816C>T (p.Leu272=)
c.*415C>T (n.*415C>T)
c.507C>T (p.Leu169=)
17g.74920020G>CCA502036961USH1Gc.816C>G (p.Leu272=)
c.*415C>G (n.*415C>G)
c.507C>G (p.Leu169=)
17g.74920020G>TCA502036963USH1Gc.816C>A (p.Leu272=)
c.*415C>A (n.*415C>A)
c.507C>A (p.Leu169=)
17g.74920021A>CCA400963136USH1Gc.815T>G (p.Leu272Arg)
c.*414T>G (n.*414T>G)
c.506T>G (p.Leu169Arg)
17g.74920021A>GCA400963140USH1Gc.815T>C (p.Leu272Pro)
c.*414T>C (n.*414T>C)
c.506T>C (p.Leu169Pro)
17g.74920021A>TCA400963138USH1Gc.815T>A (p.Leu272His)
c.*414T>A (n.*414T>A)
c.506T>A (p.Leu169His)
17g.74920022G>ACA293984121USH1Gc.814C>T (p.Leu272Phe)
c.*413C>T (n.*413C>T)
c.505C>T (p.Leu169Phe)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920022G>CCA400963145USH1Gc.814C>G (p.Leu272Val)
c.*413C>G (n.*413C>G)
c.505C>G (p.Leu169Val)
17g.74920022G=CA2275255392USH1Gc.814C= (p.Leu272=)
c.*413C= (n.*413C=)
c.505C= (p.Leu169=)
17g.74920022G>TCA400963147USH1Gc.814C>A (p.Leu272Ile)
c.*413C>A (n.*413C>A)
c.505C>A (p.Leu169Ile)
17g.74920023C>ACA8753995USH1Gc.813G>T (p.Pro271=)
c.*412G>T (n.*412G>T)
c.504G>T (p.Pro168=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920023C=CA2275255393USH1Gc.813G= (p.Pro271=)
c.*412G= (n.*412G=)
c.504G= (p.Pro168=)
17g.74920023C>GCA502036968USH1Gc.813G>C (p.Pro271=)
c.*412G>C (n.*412G>C)
c.504G>C (p.Pro168=)
 gnomAD v4
17g.74920023C>TCA502036969USH1Gc.813G>A (p.Pro271=)
c.*412G>A (n.*412G>A)
c.504G>A (p.Pro168=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920023_74920024delinsCGCA2275255394USH1Gc.812_813delinsCG (p.Pro271=)
c.*411_*412delinsCG (n.*411_*412delinsCG)
c.503_504delinsCG (p.Pro168=)
17g.74920024G>ACA400963153USH1Gc.812C>T (p.Pro271Leu)
c.*411C>T (n.*411C>T)
c.503C>T (p.Pro168Leu)
 gnomAD v4
17g.74920024G>CCA400963154USH1Gc.812C>G (p.Pro271Arg)
c.*411C>G (n.*411C>G)
c.503C>G (p.Pro168Arg)
 gnomAD v4
17g.74920024G>TCA400963157USH1Gc.812C>A (p.Pro271Gln)
c.*411C>A (n.*411C>A)
c.503C>A (p.Pro168Gln)
17g.74920027delCA658824960USH1Gc.812del (p.Pro271ArgfsTer?)
c.*411del (n.*411del)
c.503del (p.Pro168ArgfsTer?)
 ClinVar dbSNP
17g.74920025G>ACA400963162USH1Gc.811C>T (p.Pro271Ser)
c.*410C>T (n.*410C>T)
c.502C>T (p.Pro168Ser)
 COSMIC
17g.74920025G>CCA400963164USH1Gc.811C>G (p.Pro271Ala)
c.*410C>G (n.*410C>G)
c.502C>G (p.Pro168Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.74920025G=CA2275255395USH1Gc.811C= (p.Pro271=)
c.*410C= (n.*410C=)
c.502C= (p.Pro168=)
17g.74920025G>TCA400963167USH1Gc.811C>A (p.Pro271Thr)
c.*410C>A (n.*410C>A)
c.502C>A (p.Pro168Thr)
17g.74920026G>ACA502036977USH1Gc.810C>T (p.Ala270=)
c.*409C>T (n.*409C>T)
c.501C>T (p.Ala167=)
17g.74920026G>CCA502036979USH1Gc.810C>G (p.Ala270=)
c.*409C>G (n.*409C>G)
c.501C>G (p.Ala167=)
17g.74920026G>TCA502036973USH1Gc.810C>A (p.Ala270=)
c.*409C>A (n.*409C>A)
c.501C>A (p.Ala167=)
17g.74920027G>ACA8753996USH1Gc.809C>T (p.Ala270Val)
c.*408C>T (n.*408C>T)
c.500C>T (p.Ala167Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920027G>CCA400963170USH1Gc.809C>G (p.Ala270Gly)
c.*408C>G (n.*408C>G)
c.500C>G (p.Ala167Gly)
17g.74920027G=CA2275255396USH1Gc.809C= (p.Ala270=)
c.*408C= (n.*408C=)
c.500C= (p.Ala167=)
17g.74920027G>TCA8753997USH1Gc.809C>A (p.Ala270Asp)
c.*408C>A (n.*408C>A)
c.500C>A (p.Ala167Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920028C>ACA400963174USH1Gc.808G>T (p.Ala270Ser)
c.*407G>T (n.*407G>T)
c.499G>T (p.Ala167Ser)
17g.74920028C>GCA400963179USH1Gc.808G>C (p.Ala270Pro)
c.*407G>C (n.*407G>C)
c.499G>C (p.Ala167Pro)
17g.74920028C>TCA400963176USH1Gc.808G>A (p.Ala270Thr)
c.*407G>A (n.*407G>A)
c.499G>A (p.Ala167Thr)
 gnomAD v4
17g.74920029T>ACA502036397USH1Gc.807A>T (p.Arg269=)
c.*406A>T (n.*406A>T)
c.498A>T (p.Arg166=)
17g.74920029T>CCA502036398USH1Gc.807A>G (p.Arg269=)
c.*406A>G (n.*406A>G)
c.498A>G (p.Arg166=)
17g.74920029T>GCA502036399USH1Gc.807A>C (p.Arg269=)
c.*406A>C (n.*406A>C)
c.498A>C (p.Arg166=)
17g.74920030C>ACA400963181USH1Gc.806G>T (p.Arg269Leu)
c.*405G>T (n.*405G>T)
c.497G>T (p.Arg166Leu)
17g.74920030C=CA2275255397USH1Gc.806G= (p.Arg269=)
c.*405G= (n.*405G=)
c.497G= (p.Arg166=)
17g.74920030C>GCA400963183USH1Gc.806G>C (p.Arg269Pro)
c.*405G>C (n.*405G>C)
c.497G>C (p.Arg166Pro)
17g.74920030C>TCA8753998USH1Gc.806G>A (p.Arg269Gln)
c.*405G>A (n.*405G>A)
c.497G>A (p.Arg166Gln)
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
17g.74920031G>ACA400963187USH1Gc.805C>T (p.Arg269Ter)
c.*404C>T (n.*404C>T)
c.496C>T (p.Arg166Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920031G>CCA400963189USH1Gc.805C>G (p.Arg269Gly)
c.*404C>G (n.*404C>G)
c.496C>G (p.Arg166Gly)
17g.74920031G=CA2275255398USH1Gc.805C= (p.Arg269=)
c.*404C= (n.*404C=)
c.496C= (p.Arg166=)
17g.74920031G>TCA502036401USH1Gc.805C>A (p.Arg269=)
c.*404C>A (n.*404C>A)
c.496C>A (p.Arg166=)
17g.74920032G>ACA502036402USH1Gc.804C>T (p.Gly268=)
c.*403C>T (n.*403C>T)
c.495C>T (p.Gly165=)
17g.74920032G>CCA502036403USH1Gc.804C>G (p.Gly268=)
c.*403C>G (n.*403C>G)
c.495C>G (p.Gly165=)
17g.74920032G>TCA502036404USH1Gc.804C>A (p.Gly268=)
c.*403C>A (n.*403C>A)
c.495C>A (p.Gly165=)
 gnomAD v4
17g.74920033C>ACA400963192USH1Gc.803G>T (p.Gly268Val)
c.*402G>T (n.*402G>T)
c.494G>T (p.Gly165Val)
17g.74920033C=CA2275255399USH1Gc.803G= (p.Gly268=)
c.*402G= (n.*402G=)
c.494G= (p.Gly165=)
17g.74920033C>GCA400963195USH1Gc.803G>C (p.Gly268Ala)
c.*402G>C (n.*402G>C)
c.494G>C (p.Gly165Ala)
 dbSNP gnomAD v4
17g.74920033C>TCA400963197USH1Gc.803G>A (p.Gly268Asp)
c.*402G>A (n.*402G>A)
c.494G>A (p.Gly165Asp)
17g.74920034C>ACA400963200USH1Gc.802G>T (p.Gly268Cys)
c.*401G>T (n.*401G>T)
c.493G>T (p.Gly165Cys)
17g.74920034C>GCA400963203USH1Gc.802G>C (p.Gly268Arg)
c.*401G>C (n.*401G>C)
c.493G>C (p.Gly165Arg)
17g.74920034C>TCA400963206USH1Gc.802G>A (p.Gly268Ser)
c.*401G>A (n.*401G>A)
c.493G>A (p.Gly165Ser)
17g.74920035C>ACA400963210USH1Gc.801G>T (p.Trp267Cys)
c.*400G>T (n.*400G>T)
c.492G>T (p.Trp164Cys)
17g.74920035C=CA2275255400USH1Gc.801G= (p.Trp267=)
c.*400G= (n.*400G=)
c.492G= (p.Trp164=)
17g.74920035C>GCA400963214USH1Gc.801G>C (p.Trp267Cys)
c.*400G>C (n.*400G>C)
c.492G>C (p.Trp164Cys)
17g.74920035C>TCA400963209USH1Gc.801G>A (p.Trp267Ter)
c.*400G>A (n.*400G>A)
c.492G>A (p.Trp164Ter)
 dbSNP gnomAD v2
17g.74920036C>ACA400963217USH1Gc.800G>T (p.Trp267Leu)
c.*399G>T (n.*399G>T)
c.491G>T (p.Trp164Leu)
17g.74920036C>GCA400963221USH1Gc.800G>C (p.Trp267Ser)
c.*399G>C (n.*399G>C)
c.491G>C (p.Trp164Ser)
17g.74920036C>TCA400963219USH1Gc.800G>A (p.Trp267Ter)
c.*399G>A (n.*399G>A)
c.491G>A (p.Trp164Ter)
17g.74920037A>CCA400963225USH1Gc.799T>G (p.Trp267Gly)
c.*398T>G (n.*398T>G)
c.490T>G (p.Trp164Gly)
17g.74920037A>GCA400963228USH1Gc.799T>C (p.Trp267Arg)
c.*398T>C (n.*398T>C)
c.490T>C (p.Trp164Arg)
 ClinVar
17g.74920037A>TCA400963227USH1Gc.799T>A (p.Trp267Arg)
c.*398T>A (n.*398T>A)
c.490T>A (p.Trp164Arg)
17g.74920038C>ACA400963232USH1Gc.798G>T (p.Glu266Asp)
c.*397G>T (n.*397G>T)
c.489G>T (p.Glu163Asp)
17g.74920038C>GCA400963235USH1Gc.798G>C (p.Glu266Asp)
c.*397G>C (n.*397G>C)
c.489G>C (p.Glu163Asp)
 gnomAD v4
17g.74920038C>TCA502036408USH1Gc.798G>A (p.Glu266=)
c.*397G>A (n.*397G>A)
c.489G>A (p.Glu163=)
17g.74920039T>ACA400963238USH1Gc.797A>T (p.Glu266Val)
c.*396A>T (n.*396A>T)
c.488A>T (p.Glu163Val)
 gnomAD v4
17g.74920039T>CCA400963240USH1Gc.797A>G (p.Glu266Gly)
c.*396A>G (n.*396A>G)
c.488A>G (p.Glu163Gly)
 gnomAD v4
17g.74920039T>GCA400963241USH1Gc.797A>C (p.Glu266Ala)
c.*396A>C (n.*396A>C)
c.488A>C (p.Glu163Ala)
17g.74920040C>ACA400963245USH1Gc.796G>T (p.Glu266Ter)
c.*395G>T (n.*395G>T)
c.487G>T (p.Glu163Ter)
 gnomAD v4
17g.74920040C=CA2275255401USH1Gc.796G= (p.Glu266=)
c.*395G= (n.*395G=)
c.487G= (p.Glu163=)
17g.74920040C>GCA8753999USH1Gc.796G>C (p.Glu266Gln)
c.*395G>C (n.*395G>C)
c.487G>C (p.Glu163Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920040C>TCA400963248USH1Gc.796G>A (p.Glu266Lys)
c.*395G>A (n.*395G>A)
c.487G>A (p.Glu163Lys)
 gnomAD v4
17g.74920041C>ACA400963252USH1Gc.795G>T (p.Lys265Asn)
c.*394G>T (n.*394G>T)
c.486G>T (p.Lys162Asn)
17g.74920041C=CA2275255402USH1Gc.795G= (p.Lys265=)
c.*394G= (n.*394G=)
c.486G= (p.Lys162=)
17g.74920041C>GCA400963253USH1Gc.795G>C (p.Lys265Asn)
c.*394G>C (n.*394G>C)
c.486G>C (p.Lys162Asn)
17g.74920041C>TCA8754000USH1Gc.795G>A (p.Lys265=)
c.*394G>A (n.*394G>A)
c.486G>A (p.Lys162=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920042T>ACA400963258USH1Gc.794A>T (p.Lys265Met)
c.*393A>T (n.*393A>T)
c.485A>T (p.Lys162Met)
17g.74920042T>CCA400963262USH1Gc.794A>G (p.Lys265Arg)
c.*393A>G (n.*393A>G)
c.485A>G (p.Lys162Arg)
 dbSNP gnomAD v4
17g.74920042T>GCA400963263USH1Gc.794A>C (p.Lys265Thr)
c.*393A>C (n.*393A>C)
c.485A>C (p.Lys162Thr)
 gnomAD v4
17g.74920042T=CA2275255403USH1Gc.794A= (p.Lys265=)
c.*393A= (n.*393A=)
c.485A= (p.Lys162=)
17g.74920043T>ACA400963272USH1Gc.793A>T (p.Lys265Ter)
c.*392A>T (n.*392A>T)
c.484A>T (p.Lys162Ter)
17g.74920043T>CCA400963268USH1Gc.793A>G (p.Lys265Glu)
c.*392A>G (n.*392A>G)
c.484A>G (p.Lys162Glu)
 dbSNP gnomAD v2 gnomAD v4
17g.74920043T>GCA400963270USH1Gc.793A>C (p.Lys265Gln)
c.*392A>C (n.*392A>C)
c.484A>C (p.Lys162Gln)
17g.74920043T=CA2275255404USH1Gc.793A= (p.Lys265=)
c.*392A= (n.*392A=)
c.484A= (p.Lys162=)
17g.74920044G>ACA502036416USH1Gc.792C>T (p.Pro264=)
c.*391C>T (n.*391C>T)
c.483C>T (p.Pro161=)
 ClinVar dbSNP
17g.74920044G>CCA502036417USH1Gc.792C>G (p.Pro264=)
c.*391C>G (n.*391C>G)
c.483C>G (p.Pro161=)
17g.74920044G=CA2275255405USH1Gc.792C= (p.Pro264=)
c.*391C= (n.*391C=)
c.483C= (p.Pro161=)
17g.74920044G>TCA502036418USH1Gc.792C>A (p.Pro264=)
c.*391C>A (n.*391C>A)
c.483C>A (p.Pro161=)
17g.74920045G>ACA400963277USH1Gc.791C>T (p.Pro264Leu)
c.*390C>T (n.*390C>T)
c.482C>T (p.Pro161Leu)
 gnomAD v4
17g.74920045G>CCA400963279USH1Gc.791C>G (p.Pro264Arg)
c.*390C>G (n.*390C>G)
c.482C>G (p.Pro161Arg)
17g.74920045G>TCA400963282USH1Gc.791C>A (p.Pro264His)
c.*390C>A (n.*390C>A)
c.482C>A (p.Pro161His)
 gnomAD v4
17g.74920046G>ACA400963284USH1Gc.790C>T (p.Pro264Ser)
c.*389C>T (n.*389C>T)
c.481C>T (p.Pro161Ser)
 dbSNP
17g.74920046G>CCA400963287USH1Gc.790C>G (p.Pro264Ala)
c.*389C>G (n.*389C>G)
c.481C>G (p.Pro161Ala)
 gnomAD v4
17g.74920046G=CA2275255406USH1Gc.790C= (p.Pro264=)
c.*389C= (n.*389C=)
c.481C= (p.Pro161=)
17g.74920046G>TCA400963291USH1Gc.790C>A (p.Pro264Thr)
c.*389C>A (n.*389C>A)
c.481C>A (p.Pro161Thr)
17g.74920047A>CCA400963294USH1Gc.789T>G (p.Asn263Lys)
c.*388T>G (n.*388T>G)
c.480T>G (p.Asn160Lys)
17g.74920047A>GCA502036423USH1Gc.789T>C (p.Asn263=)
c.*388T>C (n.*388T>C)
c.480T>C (p.Asn160=)
17g.74920047A>TCA400963297USH1Gc.789T>A (p.Asn263Lys)
c.*388T>A (n.*388T>A)
c.480T>A (p.Asn160Lys)
17g.74920048T>ACA400963299USH1Gc.788A>T (p.Asn263Ile)
c.*387A>T (n.*387A>T)
c.479A>T (p.Asn160Ile)
17g.74920048T>CCA400963301USH1Gc.788A>G (p.Asn263Ser)
c.*387A>G (n.*387A>G)
c.479A>G (p.Asn160Ser)
17g.74920048T>GCA400963303USH1Gc.788A>C (p.Asn263Thr)
c.*387A>C (n.*387A>C)
c.479A>C (p.Asn160Thr)
17g.74920049T>ACA400963312USH1Gc.787A>T (p.Asn263Tyr)
c.*386A>T (n.*386A>T)
c.478A>T (p.Asn160Tyr)
17g.74920049T>CCA400963309USH1Gc.787A>G (p.Asn263Asp)
c.*386A>G (n.*386A>G)
c.478A>G (p.Asn160Asp)
 gnomAD v4
17g.74920049T>GCA400963306USH1Gc.787A>C (p.Asn263His)
c.*386A>C (n.*386A>C)
c.478A>C (p.Asn160His)
17g.74920050G>ACA502036428USH1Gc.786C>T (p.Ala262=)
c.*385C>T (n.*385C>T)
c.477C>T (p.Ala159=)
17g.74920050G>CCA502036429USH1Gc.786C>G (p.Ala262=)
c.*385C>G (n.*385C>G)
c.477C>G (p.Ala159=)
17g.74920050G>TCA502036430USH1Gc.786C>A (p.Ala262=)
c.*385C>A (n.*385C>A)
c.477C>A (p.Ala159=)
 gnomAD v4
17g.74920051G>ACA293984150USH1Gc.785C>T (p.Ala262Val)
c.*384C>T (n.*384C>T)
c.476C>T (p.Ala159Val)
 dbSNP gnomAD v4
17g.74920051G>CCA400963322USH1Gc.785C>G (p.Ala262Gly)
c.*384C>G (n.*384C>G)
c.476C>G (p.Ala159Gly)
 dbSNP gnomAD v4
17g.74920051G=CA2275255407USH1Gc.785C= (p.Ala262=)
c.*384C= (n.*384C=)
c.476C= (p.Ala159=)
17g.74920051G>TCA400963326USH1Gc.785C>A (p.Ala262Asp)
c.*384C>A (n.*384C>A)
c.476C>A (p.Ala159Asp)
17g.74920052C>ACA400963330USH1Gc.784G>T (p.Ala262Ser)
c.*383G>T (n.*383G>T)
c.475G>T (p.Ala159Ser)
 gnomAD v4
17g.74920052C=CA2275255408USH1Gc.784G= (p.Ala262=)
c.*383G= (n.*383G=)
c.475G= (p.Ala159=)
17g.74920052C>GCA400963333USH1Gc.784G>C (p.Ala262Pro)
c.*383G>C (n.*383G>C)
c.475G>C (p.Ala159Pro)
17g.74920052C>TCA400963336USH1Gc.784G>A (p.Ala262Thr)
c.*383G>A (n.*383G>A)
c.475G>A (p.Ala159Thr)
 dbSNP gnomAD v2 gnomAD v4
17g.74920053delCA2573154821USH1Gc.783del (p.Tyr261Ter)
c.*382del (n.*382del)
c.474del (p.Tyr158Ter)
 ClinVar dbSNP gnomAD v4
17g.74920053G>ACA8754001USH1Gc.783C>T (p.Tyr261=)
c.*382C>T (n.*382C>T)
c.474C>T (p.Tyr158=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920053G>CCA400963340USH1Gc.783C>G (p.Tyr261Ter)
c.*382C>G (n.*382C>G)
c.474C>G (p.Tyr158Ter)
 gnomAD v4
17g.74920053G=CA2275255409USH1Gc.783C= (p.Tyr261=)
c.*382C= (n.*382C=)
c.474C= (p.Tyr158=)
17g.74920053G>TCA400963338USH1Gc.783C>A (p.Tyr261Ter)
c.*382C>A (n.*382C>A)
c.474C>A (p.Tyr158Ter)
 gnomAD v4
17g.74920054T>ACA400963344USH1Gc.782A>T (p.Tyr261Phe)
c.*381A>T (n.*381A>T)
c.473A>T (p.Tyr158Phe)
17g.74920054T>CCA400963346USH1Gc.782A>G (p.Tyr261Cys)
c.*381A>G (n.*381A>G)
c.473A>G (p.Tyr158Cys)
17g.74920054T>GCA400963348USH1Gc.782A>C (p.Tyr261Ser)
c.*381A>C (n.*381A>C)
c.473A>C (p.Tyr158Ser)
17g.74920055A>CCA400963350USH1Gc.781T>G (p.Tyr261Asp)
c.*380T>G (n.*380T>G)
c.472T>G (p.Tyr158Asp)
17g.74920055A>GCA400963353USH1Gc.781T>C (p.Tyr261His)
c.*380T>C (n.*380T>C)
c.472T>C (p.Tyr158His)
17g.74920055A>TCA400963355USH1Gc.781T>A (p.Tyr261Asn)
c.*380T>A (n.*380T>A)
c.472T>A (p.Tyr158Asn)
17g.74920056G>ACA502036441USH1Gc.780C>T (p.Thr260=)
c.*379C>T (n.*379C>T)
c.471C>T (p.Thr157=)
 dbSNP
17g.74920056G>CCA502036442USH1Gc.780C>G (p.Thr260=)
c.*379C>G (n.*379C>G)
c.471C>G (p.Thr157=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920056G=CA2275255410USH1Gc.780C= (p.Thr260=)
c.*379C= (n.*379C=)
c.471C= (p.Thr157=)
17g.74920056G>TCA502036443USH1Gc.780C>A (p.Thr260=)
c.*379C>A (n.*379C>A)
c.471C>A (p.Thr157=)
 gnomAD v4
17g.74920056_74920057insTGCGCA913184952USH1Gc.780_781insGCAC (p.Tyr261AlafsTer?)
c.*379_*380insGCAC (n.*379_*380insGCAC)
c.471_472insGCAC (p.Tyr158AlafsTer?)
17g.74920057G>ACA400963357USH1Gc.779C>T (p.Thr260Ile)
c.*378C>T (n.*378C>T)
c.470C>T (p.Thr157Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.74920057G>CCA400963363USH1Gc.779C>G (p.Thr260Ser)
c.*378C>G (n.*378C>G)
c.470C>G (p.Thr157Ser)
17g.74920057G=CA2275255411USH1Gc.779C= (p.Thr260=)
c.*378C= (n.*378C=)
c.470C= (p.Thr157=)
17g.74920057G>TCA400963360USH1Gc.779C>A (p.Thr260Asn)
c.*378C>A (n.*378C>A)
c.470C>A (p.Thr157Asn)
17g.74920057_74920060dupCA775053354USH1Gc.776_779dup (p.Tyr261HisfsTer?)
c.*375_*378dup (n.*375_*378dup)
c.467_470dup (p.Tyr158HisfsTer?)
 dbSNP gnomAD v3 gnomAD v4
17g.74920058T>ACA400963366USH1Gc.778A>T (p.Thr260Ser)
c.*377A>T (n.*377A>T)
c.469A>T (p.Thr157Ser)
17g.74920058T>CCA400963368USH1Gc.778A>G (p.Thr260Ala)
c.*377A>G (n.*377A>G)
c.469A>G (p.Thr157Ala)
 COSMIC
17g.74920058T>GCA400963371USH1Gc.778A>C (p.Thr260Pro)
c.*377A>C (n.*377A>C)
c.469A>C (p.Thr157Pro)
17g.74920059G>ACA502036446USH1Gc.777C>T (p.Gly259=)
c.*376C>T (n.*376C>T)
c.468C>T (p.Gly156=)
 ClinVar dbSNP gnomAD v4
17g.74920059G>CCA502036447USH1Gc.777C>G (p.Gly259=)
c.*376C>G (n.*376C>G)
c.468C>G (p.Gly156=)
17g.74920059G>TCA502036448USH1Gc.777C>A (p.Gly259=)
c.*376C>A (n.*376C>A)
c.468C>A (p.Gly156=)
17g.74920060C>ACA400963373USH1Gc.776G>T (p.Gly259Val)
c.*375G>T (n.*375G>T)
c.467G>T (p.Gly156Val)
 dbSNP gnomAD v3 gnomAD v4
17g.74920060C=CA2275255412USH1Gc.776G= (p.Gly259=)
c.*375G= (n.*375G=)
c.467G= (p.Gly156=)
17g.74920060C>GCA400963374USH1Gc.776G>C (p.Gly259Ala)
c.*375G>C (n.*375G>C)
c.467G>C (p.Gly156Ala)
17g.74920060C>TCA8754002USH1Gc.776G>A (p.Gly259Asp)
c.*375G>A (n.*375G>A)
c.467G>A (p.Gly156Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920061C>ACA400963379USH1Gc.775G>T (p.Gly259Cys)
c.*374G>T (n.*374G>T)
c.466G>T (p.Gly156Cys)
17g.74920061C>GCA400963380USH1Gc.775G>C (p.Gly259Arg)
c.*374G>C (n.*374G>C)
c.466G>C (p.Gly156Arg)
17g.74920061C>TCA400963382USH1Gc.775G>A (p.Gly259Ser)
c.*374G>A (n.*374G>A)
c.466G>A (p.Gly156Ser)
 gnomAD v4
17g.74920062C>ACA400963385USH1Gc.774G>T (p.Gln258His)
c.*373G>T (n.*373G>T)
c.465G>T (p.Gln155His)
17g.74920062C=CA2275255413USH1Gc.774G= (p.Gln258=)
c.*373G= (n.*373G=)
c.465G= (p.Gln155=)
17g.74920062C>GCA400963387USH1Gc.774G>C (p.Gln258His)
c.*373G>C (n.*373G>C)
c.465G>C (p.Gln155His)
17g.74920062C>TCA502036451USH1Gc.774G>A (p.Gln258=)
c.*373G>A (n.*373G>A)
c.465G>A (p.Gln155=)
 dbSNP gnomAD v2
17g.74920063T>ACA400963390USH1Gc.773A>T (p.Gln258Leu)
c.*372A>T (n.*372A>T)
c.464A>T (p.Gln155Leu)
17g.74920063T>CCA400963393USH1Gc.773A>G (p.Gln258Arg)
c.*372A>G (n.*372A>G)
c.464A>G (p.Gln155Arg)
17g.74920063T>GCA400963389USH1Gc.773A>C (p.Gln258Pro)
c.*372A>C (n.*372A>C)
c.464A>C (p.Gln155Pro)
17g.74920064G>ACA400963396USH1Gc.772C>T (p.Gln258Ter)
c.*371C>T (n.*371C>T)
c.463C>T (p.Gln155Ter)
 gnomAD v4
17g.74920064G>CCA400963400USH1Gc.772C>G (p.Gln258Glu)
c.*371C>G (n.*371C>G)
c.463C>G (p.Gln155Glu)
17g.74920064G>TCA400963398USH1Gc.772C>A (p.Gln258Lys)
c.*371C>A (n.*371C>A)
c.463C>A (p.Gln155Lys)
17g.74920065G>ACA502036457USH1Gc.771C>T (p.Arg257=)
c.*370C>T (n.*370C>T)
c.462C>T (p.Arg154=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920065G>CCA502036459USH1Gc.771C>G (p.Arg257=)
c.*370C>G (n.*370C>G)
c.462C>G (p.Arg154=)
17g.74920065G=CA2275255414USH1Gc.771C= (p.Arg257=)
c.*370C= (n.*370C=)
c.462C= (p.Arg154=)
17g.74920065G>TCA502036461USH1Gc.771C>A (p.Arg257=)
c.*370C>A (n.*370C>A)
c.462C>A (p.Arg154=)
17g.74920066C>ACA142668USH1Gc.770G>T (p.Arg257Leu)
c.*369G>T (n.*369G>T)
c.461G>T (p.Arg154Leu)
 ClinVar dbSNP
17g.74920066C=CA2275255415USH1Gc.770G= (p.Arg257=)
c.*369G= (n.*369G=)
c.461G= (p.Arg154=)
17g.74920066C>GCA400963406USH1Gc.770G>C (p.Arg257Pro)
c.*369G>C (n.*369G>C)
c.461G>C (p.Arg154Pro)
 dbSNP gnomAD v2
17g.74920066C>TCA8754003USH1Gc.770G>A (p.Arg257His)
c.*369G>A (n.*369G>A)
c.461G>A (p.Arg154His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920067G>ACA400963412USH1Gc.769C>T (p.Arg257Cys)
c.*368C>T (n.*368C>T)
c.460C>T (p.Arg154Cys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920067G>CCA400963414USH1Gc.769C>G (p.Arg257Gly)
c.*368C>G (n.*368C>G)
c.460C>G (p.Arg154Gly)
17g.74920067G=CA2275255416USH1Gc.769C= (p.Arg257=)
c.*368C= (n.*368C=)
c.460C= (p.Arg154=)
17g.74920067G>TCA400963417USH1Gc.769C>A (p.Arg257Ser)
c.*368C>A (n.*368C>A)
c.460C>A (p.Arg154Ser)
17g.74920068C>ACA502036465USH1Gc.768G>T (p.Val256=)
c.*367G>T (n.*367G>T)
c.459G>T (p.Val153=)
17g.74920068C=CA2275255417USH1Gc.768G= (p.Val256=)
c.*367G= (n.*367G=)
c.459G= (p.Val153=)
17g.74920068C>GCA502036468USH1Gc.768G>C (p.Val256=)
c.*367G>C (n.*367G>C)
c.459G>C (p.Val153=)
17g.74920068C>TCA502036467USH1Gc.768G>A (p.Val256=)
c.*367G>A (n.*367G>A)
c.459G>A (p.Val153=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920069delCA2576383328USH1Gc.767del (p.Val256GlyfsTer?)
c.*366del (n.*366del)
c.458del (p.Val153GlyfsTer?)
17g.74920069A>CCA400963420USH1Gc.767T>G (p.Val256Gly)
c.*366T>G (n.*366T>G)
c.458T>G (p.Val153Gly)
17g.74920069A>GCA400963421USH1Gc.767T>C (p.Val256Ala)
c.*366T>C (n.*366T>C)
c.458T>C (p.Val153Ala)
17g.74920069A>TCA400963426USH1Gc.767T>A (p.Val256Glu)
c.*366T>A (n.*366T>A)
c.458T>A (p.Val153Glu)
17g.74920070C>ACA8754004USH1Gc.766G>T (p.Val256Leu)
c.*365G>T (n.*365G>T)
c.457G>T (p.Val153Leu)
 dbSNP ExAC gnomAD v2
17g.74920070C=CA2275255418USH1Gc.766G= (p.Val256=)
c.*365G= (n.*365G=)
c.457G= (p.Val153=)
17g.74920070C>GCA400963431USH1Gc.766G>C (p.Val256Leu)
c.*365G>C (n.*365G>C)
c.457G>C (p.Val153Leu)
 dbSNP gnomAD v4
17g.74920070C>TCA400963429USH1Gc.766G>A (p.Val256Met)
c.*365G>A (n.*365G>A)
c.457G>A (p.Val153Met)
 dbSNP gnomAD v2 gnomAD v4
17g.74920071G>ACA502036473USH1Gc.765C>T (p.Phe255=)
c.*364C>T (n.*364C>T)
c.456C>T (p.Phe152=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920071G>CCA400963435USH1Gc.765C>G (p.Phe255Leu)
c.*364C>G (n.*364C>G)
c.456C>G (p.Phe152Leu)
17g.74920071G=CA2275255419USH1Gc.765C= (p.Phe255=)
c.*364C= (n.*364C=)
c.456C= (p.Phe152=)
17g.74920071G>TCA400963437USH1Gc.765C>A (p.Phe255Leu)
c.*364C>A (n.*364C>A)
c.456C>A (p.Phe152Leu)
 gnomAD v4
17g.74920071_74920078dupCA2639747948USH1Gc.758_765dup (p.Val256Ter)
c.*357_*364dup (n.*357_*364dup)
c.449_456dup (p.Val153Ter)
 gnomAD v4
17g.74920072A>CCA400963439USH1Gc.764T>G (p.Phe255Cys)
c.*363T>G (n.*363T>G)
c.455T>G (p.Phe152Cys)
17g.74920072A>GCA400963440USH1Gc.764T>C (p.Phe255Ser)
c.*363T>C (n.*363T>C)
c.455T>C (p.Phe152Ser)
17g.74920072A>TCA400963442USH1Gc.764T>A (p.Phe255Tyr)
c.*363T>A (n.*363T>A)
c.455T>A (p.Phe152Tyr)
17g.74920073A>CCA400963447USH1Gc.763T>G (p.Phe255Val)
c.*362T>G (n.*362T>G)
c.454T>G (p.Phe152Val)
17g.74920073A>GCA400963449USH1Gc.763T>C (p.Phe255Leu)
c.*362T>C (n.*362T>C)
c.454T>C (p.Phe152Leu)
17g.74920073A>TCA400963450USH1Gc.763T>A (p.Phe255Ile)
c.*362T>A (n.*362T>A)
c.454T>A (p.Phe152Ile)
17g.74920074C>ACA400963454USH1Gc.762G>T (p.Met254Ile)
c.*361G>T (n.*361G>T)
c.453G>T (p.Met151Ile)
 COSMIC
17g.74920074C=CA2275255420USH1Gc.762G= (p.Met254=)
c.*361G= (n.*361G=)
c.453G= (p.Met151=)
17g.74920074C>GCA400963456USH1Gc.762G>C (p.Met254Ile)
c.*361G>C (n.*361G>C)
c.453G>C (p.Met151Ile)
17g.74920074C>TCA8754005USH1Gc.762G>A (p.Met254Ile)
c.*361G>A (n.*361G>A)
c.453G>A (p.Met151Ile)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920075A>CCA400963460USH1Gc.761T>G (p.Met254Arg)
c.*360T>G (n.*360T>G)
c.452T>G (p.Met151Arg)
17g.74920075A>GCA400963463USH1Gc.761T>C (p.Met254Thr)
c.*360T>C (n.*360T>C)
c.452T>C (p.Met151Thr)
17g.74920075A>TCA400963458USH1Gc.761T>A (p.Met254Lys)
c.*360T>A (n.*360T>A)
c.452T>A (p.Met151Lys)
17g.74920076T>ACA400963466USH1Gc.760A>T (p.Met254Leu)
c.*359A>T (n.*359A>T)
c.451A>T (p.Met151Leu)
17g.74920076T>CCA400963469USH1Gc.760A>G (p.Met254Val)
c.*359A>G (n.*359A>G)
c.451A>G (p.Met151Val)
17g.74920076T>GCA400963471USH1Gc.760A>C (p.Met254Leu)
c.*359A>C (n.*359A>C)
c.451A>C (p.Met151Leu)
17g.74920077C>ACA502036486USH1Gc.759G>T (p.Val253=)
c.*358G>T (n.*358G>T)
c.450G>T (p.Val150=)
17g.74920077C=CA2275255421USH1Gc.759G= (p.Val253=)
c.*358G= (n.*358G=)
c.450G= (p.Val150=)
17g.74920077C>GCA8754006USH1Gc.759G>C (p.Val253=)
c.*358G>C (n.*358G>C)
c.450G>C (p.Val150=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920077C>TCA502036487USH1Gc.759G>A (p.Val253=)
c.*358G>A (n.*358G>A)
c.450G>A (p.Val150=)
17g.74920078A>CCA400963480USH1Gc.758T>G (p.Val253Gly)
c.*357T>G (n.*357T>G)
c.449T>G (p.Val150Gly)
17g.74920078A>GCA400963478USH1Gc.758T>C (p.Val253Ala)
c.*357T>C (n.*357T>C)
c.449T>C (p.Val150Ala)
17g.74920078A>TCA400963476USH1Gc.758T>A (p.Val253Glu)
c.*357T>A (n.*357T>A)
c.449T>A (p.Val150Glu)
17g.74920079C>ACA8754007USH1Gc.757G>T (p.Val253Leu)
c.*356G>T (n.*356G>T)
c.448G>T (p.Val150Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920079C=CA2275255422USH1Gc.757G= (p.Val253=)
c.*356G= (n.*356G=)
c.448G= (p.Val150=)
17g.74920079C>GCA400963484USH1Gc.757G>C (p.Val253Leu)
c.*356G>C (n.*356G>C)
c.448G>C (p.Val150Leu)
 dbSNP gnomAD v2 gnomAD v4
17g.74920079C>TCA293984212USH1Gc.757G>A (p.Val253Met)
c.*356G>A (n.*356G>A)
c.448G>A (p.Val150Met)
 dbSNP gnomAD v4
17g.74920080G>ACA8754008USH1Gc.756C>T (p.Asp252=)
c.*355C>T (n.*355C>T)
c.447C>T (p.Asp149=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920080G>CCA400963489USH1Gc.756C>G (p.Asp252Glu)
c.*355C>G (n.*355C>G)
c.447C>G (p.Asp149Glu)
17g.74920080G=CA2275255423USH1Gc.756C= (p.Asp252=)
c.*355C= (n.*355C=)
c.447C= (p.Asp149=)
17g.74920080G>TCA400963493USH1Gc.756C>A (p.Asp252Glu)
c.*355C>A (n.*355C>A)
c.447C>A (p.Asp149Glu)
 gnomAD v4
17g.74920081T>ACA400963497USH1Gc.755A>T (p.Asp252Val)
c.*354A>T (n.*354A>T)
c.446A>T (p.Asp149Val)
17g.74920081T>CCA400963507USH1Gc.755A>G (p.Asp252Gly)
c.*354A>G (n.*354A>G)
c.446A>G (p.Asp149Gly)
17g.74920081T>GCA400963504USH1Gc.755A>C (p.Asp252Ala)
c.*354A>C (n.*354A>C)
c.446A>C (p.Asp149Ala)
17g.74920082C>ACA293984263USH1Gc.754G>T (p.Asp252Tyr)
c.*353G>T (n.*353G>T)
c.445G>T (p.Asp149Tyr)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920082C=CA2275255424USH1Gc.754G= (p.Asp252=)
c.*353G= (n.*353G=)
c.445G= (p.Asp149=)
17g.74920082C>GCA400963511USH1Gc.754G>C (p.Asp252His)
c.*353G>C (n.*353G>C)
c.445G>C (p.Asp149His)
17g.74920082C>TCA400963513USH1Gc.754G>A (p.Asp252Asn)
c.*353G>A (n.*353G>A)
c.445G>A (p.Asp149Asn)
 COSMIC
17g.74920083G>ACA10646731USH1Gc.753C>T (p.Ser251=)
c.*352C>T (n.*352C>T)
c.444C>T (p.Ser148=)
 ClinVar dbSNP gnomAD v4
17g.74920083G>CCA400963517USH1Gc.753C>G (p.Ser251Arg)
c.*352C>G (n.*352C>G)
c.444C>G (p.Ser148Arg)
17g.74920083G=CA2275255425USH1Gc.753C= (p.Ser251=)
c.*352C= (n.*352C=)
c.444C= (p.Ser148=)
17g.74920083G>TCA400963520USH1Gc.753C>A (p.Ser251Arg)
c.*352C>A (n.*352C>A)
c.444C>A (p.Ser148Arg)
 gnomAD v4

Number of alleles fetched