Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74920071_74920078dupCA2639747948USH1Gc.758_765dup (p.Val256Ter)
c.*357_*364dup (n.*357_*364dup)
c.449_456dup (p.Val153Ter)
 gnomAD v4
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
17g.74920084C>ACA400963524USH1Gc.752G>T (p.Ser251Ile)
c.*351G>T (n.*351G>T)
c.443G>T (p.Ser148Ile)
17g.74920084C>GCA400963526USH1Gc.752G>C (p.Ser251Thr)
c.*351G>C (n.*351G>C)
c.443G>C (p.Ser148Thr)
17g.74920084C>TCA400963529USH1Gc.752G>A (p.Ser251Asn)
c.*351G>A (n.*351G>A)
c.443G>A (p.Ser148Asn)
 gnomAD v4
17g.74920085T>ACA400963531USH1Gc.751A>T (p.Ser251Cys)
c.*350A>T (n.*350A>T)
c.442A>T (p.Ser148Cys)
17g.74920085T>CCA400963534USH1Gc.751A>G (p.Ser251Gly)
c.*350A>G (n.*350A>G)
c.442A>G (p.Ser148Gly)
17g.74920085T>GCA400963536USH1Gc.751A>C (p.Ser251Arg)
c.*350A>C (n.*350A>C)
c.442A>C (p.Ser148Arg)
17g.74920086G>ACA502036502USH1Gc.750C>T (p.Gly250=)
c.*349C>T (n.*349C>T)
c.441C>T (p.Gly147=)
17g.74920086G>CCA502036503USH1Gc.750C>G (p.Gly250=)
c.*349C>G (n.*349C>G)
c.441C>G (p.Gly147=)
17g.74920086G>TCA502036505USH1Gc.750C>A (p.Gly250=)
c.*349C>A (n.*349C>A)
c.441C>A (p.Gly147=)
 gnomAD v4
17g.74920087C>ACA400963541USH1Gc.749G>T (p.Gly250Val)
c.*348G>T (n.*348G>T)
c.440G>T (p.Gly147Val)
17g.74920087C>GCA400963544USH1Gc.749G>C (p.Gly250Ala)
c.*348G>C (n.*348G>C)
c.440G>C (p.Gly147Ala)
17g.74920087C>TCA400963538USH1Gc.749G>A (p.Gly250Asp)
c.*348G>A (n.*348G>A)
c.440G>A (p.Gly147Asp)
17g.74920088C>ACA400963553USH1Gc.748G>T (p.Gly250Cys)
c.*347G>T (n.*347G>T)
c.439G>T (p.Gly147Cys)
17g.74920088C=CA2275255426USH1Gc.748G= (p.Gly250=)
c.*347G= (n.*347G=)
c.439G= (p.Gly147=)
17g.74920088C>GCA400963548USH1Gc.748G>C (p.Gly250Arg)
c.*347G>C (n.*347G>C)
c.439G>C (p.Gly147Arg)
17g.74920088C>TCA400963551USH1Gc.748G>A (p.Gly250Ser)
c.*347G>A (n.*347G>A)
c.439G>A (p.Gly147Ser)
 dbSNP
17g.74920089C>ACA502036512USH1Gc.747G>T (p.Leu249=)
c.*346G>T (n.*346G>T)
c.438G>T (p.Leu146=)
17g.74920089C>GCA502036510USH1Gc.747G>C (p.Leu249=)
c.*346G>C (n.*346G>C)
c.438G>C (p.Leu146=)
17g.74920089C>TCA502036509USH1Gc.747G>A (p.Leu249=)
c.*346G>A (n.*346G>A)
c.438G>A (p.Leu146=)
17g.74920090A>CCA400963557USH1Gc.746T>G (p.Leu249Arg)
c.*345T>G (n.*345T>G)
c.437T>G (p.Leu146Arg)
17g.74920090A>GCA400963560USH1Gc.746T>C (p.Leu249Pro)
c.*345T>C (n.*345T>C)
c.437T>C (p.Leu146Pro)
17g.74920090A>TCA400963562USH1Gc.746T>A (p.Leu249Gln)
c.*345T>A (n.*345T>A)
c.437T>A (p.Leu146Gln)
 gnomAD v4
17g.74920091G>ACA502036514USH1Gc.745C>T (p.Leu249=)
c.*344C>T (n.*344C>T)
c.436C>T (p.Leu146=)
 gnomAD v4
17g.74920091G>CCA400963566USH1Gc.745C>G (p.Leu249Val)
c.*344C>G (n.*344C>G)
c.436C>G (p.Leu146Val)
 dbSNP gnomAD v2 gnomAD v4
17g.74920091G=CA2275255427USH1Gc.745C= (p.Leu249=)
c.*344C= (n.*344C=)
c.436C= (p.Leu146=)
17g.74920091G>TCA400963568USH1Gc.745C>A (p.Leu249Met)
c.*344C>A (n.*344C>A)
c.436C>A (p.Leu146Met)
 gnomAD v4 COSMIC
17g.74920092C>ACA400963572USH1Gc.744G>T (p.Gln248His)
c.*343G>T (n.*343G>T)
c.435G>T (p.Gln145His)
 ClinVar dbSNP
17g.74920092C=CA2275255428USH1Gc.744G= (p.Gln248=)
c.*343G= (n.*343G=)
c.435G= (p.Gln145=)
17g.74920092C>GCA400963574USH1Gc.744G>C (p.Gln248His)
c.*343G>C (n.*343G>C)
c.435G>C (p.Gln145His)
17g.74920092C>TCA502036515USH1Gc.744G>A (p.Gln248=)
c.*343G>A (n.*343G>A)
c.435G>A (p.Gln145=)
17g.74920093T>ACA400963578USH1Gc.743A>T (p.Gln248Leu)
c.*342A>T (n.*342A>T)
c.434A>T (p.Gln145Leu)
17g.74920093T>CCA400963580USH1Gc.743A>G (p.Gln248Arg)
c.*342A>G (n.*342A>G)
c.434A>G (p.Gln145Arg)
 gnomAD v4
17g.74920093T>GCA400963583USH1Gc.743A>C (p.Gln248Pro)
c.*342A>C (n.*342A>C)
c.434A>C (p.Gln145Pro)
17g.74920094delCA2639747986USH1Gc.742del (p.Gln248SerfsTer6)
c.*341del (n.*341del)
c.433del (p.Gln145SerfsTer6)
 gnomAD v4
17g.74920094G>ACA8754009USH1Gc.742C>T (p.Gln248Ter)
c.*341C>T (n.*341C>T)
c.433C>T (p.Gln145Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920094G>CCA400963587USH1Gc.742C>G (p.Gln248Glu)
c.*341C>G (n.*341C>G)
c.433C>G (p.Gln145Glu)
17g.74920094G=CA2275255429USH1Gc.742C= (p.Gln248=)
c.*341C= (n.*341C=)
c.433C= (p.Gln145=)
17g.74920094G>TCA400963589USH1Gc.742C>A (p.Gln248Lys)
c.*341C>A (n.*341C>A)
c.433C>A (p.Gln145Lys)
 gnomAD v4
17g.74920095C>ACA502036520USH1Gc.741G>T (p.Leu247=)
c.*340G>T (n.*340G>T)
c.432G>T (p.Leu144=)
17g.74920095C=CA2275255430USH1Gc.741G= (p.Leu247=)
c.*340G= (n.*340G=)
c.432G= (p.Leu144=)
17g.74920095C>GCA502036521USH1Gc.741G>C (p.Leu247=)
c.*340G>C (n.*340G>C)
c.432G>C (p.Leu144=)
17g.74920095C>TCA502036522USH1Gc.741G>A (p.Leu247=)
c.*340G>A (n.*340G>A)
c.432G>A (p.Leu144=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920096A>CCA400963594USH1Gc.740T>G (p.Leu247Arg)
c.*339T>G (n.*339T>G)
c.431T>G (p.Leu144Arg)
 gnomAD v4
17g.74920096A>GCA400963596USH1Gc.740T>C (p.Leu247Pro)
c.*339T>C (n.*339T>C)
c.431T>C (p.Leu144Pro)
 gnomAD v4
17g.74920096A>TCA400963599USH1Gc.740T>A (p.Leu247Gln)
c.*339T>A (n.*339T>A)
c.431T>A (p.Leu144Gln)
17g.74920097G>ACA293984266USH1Gc.739C>T (p.Leu247=)
c.*338C>T (n.*338C>T)
c.430C>T (p.Leu144=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920097G>CCA400963604USH1Gc.739C>G (p.Leu247Val)
c.*338C>G (n.*338C>G)
c.430C>G (p.Leu144Val)
 gnomAD v4
17g.74920097G=CA2275255431USH1Gc.739C= (p.Leu247=)
c.*338C= (n.*338C=)
c.430C= (p.Leu144=)
17g.74920097G>TCA400963606USH1Gc.739C>A (p.Leu247Met)
c.*338C>A (n.*338C>A)
c.430C>A (p.Leu144Met)
 gnomAD v4
17g.74920098G>ACA502036526USH1Gc.738C>T (p.Gly246=)
c.*337C>T (n.*337C>T)
c.429C>T (p.Gly143=)
 gnomAD v4
17g.74920098G>CCA502036527USH1Gc.738C>G (p.Gly246=)
c.*337C>G (n.*337C>G)
c.429C>G (p.Gly143=)
17g.74920098G>TCA502036528USH1Gc.738C>A (p.Gly246=)
c.*337C>A (n.*337C>A)
c.429C>A (p.Gly143=)
 gnomAD v4
17g.74920099C>ACA400963609USH1Gc.737G>T (p.Gly246Val)
c.*336G>T (n.*336G>T)
c.428G>T (p.Gly143Val)
17g.74920099C=CA2275255432USH1Gc.737G= (p.Gly246=)
c.*336G= (n.*336G=)
c.428G= (p.Gly143=)
17g.74920099C>GCA400963610USH1Gc.737G>C (p.Gly246Ala)
c.*336G>C (n.*336G>C)
c.428G>C (p.Gly143Ala)
 gnomAD v4
17g.74920099C>TCA8754010USH1Gc.737G>A (p.Gly246Asp)
c.*336G>A (n.*336G>A)
c.428G>A (p.Gly143Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920101dupCA2639747999USH1Gc.737dup (p.Leu247ProfsTer?)
c.*336dup (n.*336dup)
c.428dup (p.Leu144ProfsTer?)
 gnomAD v4
17g.74920100C>ACA400963614USH1Gc.736G>T (p.Gly246Cys)
c.*335G>T (n.*335G>T)
c.427G>T (p.Gly143Cys)
17g.74920100C>GCA400963618USH1Gc.736G>C (p.Gly246Arg)
c.*335G>C (n.*335G>C)
c.427G>C (p.Gly143Arg)
 gnomAD v4
17g.74920100C>TCA400963622USH1Gc.736G>A (p.Gly246Ser)
c.*335G>A (n.*335G>A)
c.427G>A (p.Gly143Ser)
17g.74920101C>ACA502036535USH1Gc.735G>T (p.Ser245=)
c.*334G>T (n.*334G>T)
c.426G>T (p.Ser142=)
17g.74920101C=CA2275255433USH1Gc.735G= (p.Ser245=)
c.*334G= (n.*334G=)
c.426G= (p.Ser142=)
17g.74920101C>GCA502036536USH1Gc.735G>C (p.Ser245=)
c.*334G>C (n.*334G>C)
c.426G>C (p.Ser142=)
 gnomAD v4
17g.74920101C>TCA502036537USH1Gc.735G>A (p.Ser245=)
c.*334G>A (n.*334G>A)
c.426G>A (p.Ser142=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920102G>ACA142666USH1Gc.734C>T (p.Ser245Leu)
c.*333C>T (n.*333C>T)
c.425C>T (p.Ser142Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920102G>CCA400963630USH1Gc.734C>G (p.Ser245Trp)
c.*333C>G (n.*333C>G)
c.425C>G (p.Ser142Trp)
 gnomAD v4
17g.74920102G=CA2275255434USH1Gc.734C= (p.Ser245=)
c.*333C= (n.*333C=)
c.425C= (p.Ser142=)
17g.74920102G>TCA400963627USH1Gc.734C>A (p.Ser245Ter)
c.*333C>A (n.*333C>A)
c.425C>A (p.Ser142Ter)
 gnomAD v4
17g.74920103A=CA2275255435USH1Gc.733T= (p.Ser245=)
c.*332T= (n.*332T=)
c.424T= (p.Ser142=)
17g.74920103A>CCA400963639USH1Gc.733T>G (p.Ser245Ala)
c.*332T>G (n.*332T>G)
c.424T>G (p.Ser142Ala)
 dbSNP gnomAD v2 gnomAD v4
17g.74920103A>GCA400963634USH1Gc.733T>C (p.Ser245Pro)
c.*332T>C (n.*332T>C)
c.424T>C (p.Ser142Pro)
17g.74920103A>TCA400963636USH1Gc.733T>A (p.Ser245Thr)
c.*332T>A (n.*332T>A)
c.424T>A (p.Ser142Thr)
17g.74920104G>ACA502036543USH1Gc.732C>T (p.Leu244=)
c.*331C>T (n.*331C>T)
c.423C>T (p.Leu141=)
17g.74920104G>CCA502036544USH1Gc.732C>G (p.Leu244=)
c.*331C>G (n.*331C>G)
c.423C>G (p.Leu141=)
 gnomAD v4
17g.74920104G>TCA502036546USH1Gc.732C>A (p.Leu244=)
c.*331C>A (n.*331C>A)
c.423C>A (p.Leu141=)
17g.74920105A=CA2275255436USH1Gc.731T= (p.Leu244=)
c.*330T= (n.*330T=)
c.422T= (p.Leu141=)
17g.74920105A>CCA8754011USH1Gc.731T>G (p.Leu244Arg)
c.*330T>G (n.*330T>G)
c.422T>G (p.Leu141Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920105A>GCA400963641USH1Gc.731T>C (p.Leu244Pro)
c.*330T>C (n.*330T>C)
c.422T>C (p.Leu141Pro)
17g.74920105A>TCA400963643USH1Gc.731T>A (p.Leu244His)
c.*330T>A (n.*330T>A)
c.422T>A (p.Leu141His)
17g.74920106G>ACA8754012USH1Gc.730C>T (p.Leu244Phe)
c.*329C>T (n.*329C>T)
c.421C>T (p.Leu141Phe)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920106G>CCA400963647USH1Gc.730C>G (p.Leu244Val)
c.*329C>G (n.*329C>G)
c.421C>G (p.Leu141Val)
17g.74920106G=CA2275255437USH1Gc.730C= (p.Leu244=)
c.*329C= (n.*329C=)
c.421C= (p.Leu141=)
17g.74920106G>TCA400963651USH1Gc.730C>A (p.Leu244Ile)
c.*329C>A (n.*329C>A)
c.421C>A (p.Leu141Ile)
 gnomAD v4
17g.74920107C>ACA502036549USH1Gc.729G>T (p.Ser243=)
c.*328G>T (n.*328G>T)
c.420G>T (p.Ser140=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920107C=CA2275255438USH1Gc.729G= (p.Ser243=)
c.*328G= (n.*328G=)
c.420G= (p.Ser140=)
17g.74920107C>GCA502036550USH1Gc.729G>C (p.Ser243=)
c.*328G>C (n.*328G>C)
c.420G>C (p.Ser140=)
17g.74920107C>TCA502036551USH1Gc.729G>A (p.Ser243=)
c.*328G>A (n.*328G>A)
c.420G>A (p.Ser140=)
 gnomAD v4 COSMIC
17g.74920108G>ACA400963654USH1Gc.728C>T (p.Ser243Leu)
c.*327C>T (n.*327C>T)
c.419C>T (p.Ser140Leu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74920108G>CCA400963656USH1Gc.728C>G (p.Ser243Trp)
c.*327C>G (n.*327C>G)
c.419C>G (p.Ser140Trp)
 gnomAD v4
17g.74920108G=CA2275255439USH1Gc.728C= (p.Ser243=)
c.*327C= (n.*327C=)
c.419C= (p.Ser140=)
17g.74920108G>TCA8754013USH1Gc.728C>A (p.Ser243Ter)
c.*327C>A (n.*327C>A)
c.419C>A (p.Ser140Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920109A=CA2275255440USH1Gc.727T= (p.Ser243=)
c.*326T= (n.*326T=)
c.418T= (p.Ser140=)
17g.74920109A>CCA400963666USH1Gc.727T>G (p.Ser243Ala)
c.*326T>G (n.*326T>G)
c.418T>G (p.Ser140Ala)
17g.74920109A>GCA400963667USH1Gc.727T>C (p.Ser243Pro)
c.*326T>C (n.*326T>C)
c.418T>C (p.Ser140Pro)
17g.74920109A>TCA400963670USH1Gc.727T>A (p.Ser243Thr)
c.*326T>A (n.*326T>A)
c.418T>A (p.Ser140Thr)
17g.74920110G>ACA502036559USH1Gc.726C>T (p.Arg242=)
c.*325C>T (n.*325C>T)
c.417C>T (p.Arg139=)
17g.74920110G>CCA502036560USH1Gc.726C>G (p.Arg242=)
c.*325C>G (n.*325C>G)
c.417C>G (p.Arg139=)
17g.74920110G>TCA502036558USH1Gc.726C>A (p.Arg242=)
c.*325C>A (n.*325C>A)
c.417C>A (p.Arg139=)
 gnomAD v4
17g.74920113_74920116dupCA8754014USH1Gc.723_726dup (p.Ser243ProfsTer?)
c.*322_*325dup (n.*322_*325dup)
c.414_417dup (p.Ser140ProfsTer?)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920111C>ACA400963674USH1Gc.725G>T (p.Arg242Leu)
c.*324G>T (n.*324G>T)
c.416G>T (p.Arg139Leu)
 gnomAD v4
17g.74920111C=CA2275255441USH1Gc.725G= (p.Arg242=)
c.*324G= (n.*324G=)
c.416G= (p.Arg139=)
17g.74920111C>GCA400963676USH1Gc.725G>C (p.Arg242Pro)
c.*324G>C (n.*324G>C)
c.416G>C (p.Arg139Pro)
 gnomAD v4
17g.74920111C>TCA8754015USH1Gc.725G>A (p.Arg242His)
c.*324G>A (n.*324G>A)
c.416G>A (p.Arg139His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920112G>ACA400963681USH1Gc.724C>T (p.Arg242Cys)
c.*323C>T (n.*323C>T)
c.415C>T (p.Arg139Cys)
 dbSNP gnomAD v4
17g.74920112G>CCA8754016USH1Gc.724C>G (p.Arg242Gly)
c.*323C>G (n.*323C>G)
c.415C>G (p.Arg139Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920112G=CA2275255442USH1Gc.724C= (p.Arg242=)
c.*323C= (n.*323C=)
c.415C= (p.Arg139=)
17g.74920112G>TCA400963683USH1Gc.724C>A (p.Arg242Ser)
c.*323C>A (n.*323C>A)
c.415C>A (p.Arg139Ser)
17g.74920113G>ACA502036566USH1Gc.723C>T (p.Ala241=)
c.*322C>T (n.*322C>T)
c.414C>T (p.Ala138=)
17g.74920113G>CCA502036567USH1Gc.723C>G (p.Ala241=)
c.*322C>G (n.*322C>G)
c.414C>G (p.Ala138=)
 ClinVar dbSNP
17g.74920113G>TCA502036570USH1Gc.723C>A (p.Ala241=)
c.*322C>A (n.*322C>A)
c.414C>A (p.Ala138=)
17g.74920114G>ACA400963685USH1Gc.722C>T (p.Ala241Val)
c.*321C>T (n.*321C>T)
c.413C>T (p.Ala138Val)
 ClinVar dbSNP gnomAD v4
17g.74920114G>CCA400963686USH1Gc.722C>G (p.Ala241Gly)
c.*321C>G (n.*321C>G)
c.413C>G (p.Ala138Gly)
17g.74920114G=CA2275255443USH1Gc.722C= (p.Ala241=)
c.*321C= (n.*321C=)
c.413C= (p.Ala138=)
17g.74920114G>TCA400963688USH1Gc.722C>A (p.Ala241Asp)
c.*321C>A (n.*321C>A)
c.413C>A (p.Ala138Asp)
17g.74920115C>ACA8754017USH1Gc.721G>T (p.Ala241Ser)
c.*320G>T (n.*320G>T)
c.412G>T (p.Ala138Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920115C=CA2275255444USH1Gc.721G= (p.Ala241=)
c.*320G= (n.*320G=)
c.412G= (p.Ala138=)
17g.74920115C>GCA400963690USH1Gc.721G>C (p.Ala241Pro)
c.*320G>C (n.*320G>C)
c.412G>C (p.Ala138Pro)
17g.74920115C>TCA400963691USH1Gc.721G>A (p.Ala241Thr)
c.*320G>A (n.*320G>A)
c.412G>A (p.Ala138Thr)
 gnomAD v4
17g.74920116G>ACA293984319USH1Gc.720C>T (p.Ser240=)
c.*319C>T (n.*319C>T)
c.411C>T (p.Ser137=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74920116G>CCA400963693USH1Gc.720C>G (p.Ser240Arg)
c.*319C>G (n.*319C>G)
c.411C>G (p.Ser137Arg)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920116G=CA2275255445USH1Gc.720C= (p.Ser240=)
c.*319C= (n.*319C=)
c.411C= (p.Ser137=)
17g.74920116G>TCA8754018USH1Gc.720C>A (p.Ser240Arg)
c.*319C>A (n.*319C>A)
c.411C>A (p.Ser137Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920116_74920118delinsGCTCA2275255446USH1Gc.718_720delinsAGC (p.Ser240=)
c.*317_*319delinsAGC (n.*317_*319delinsAGC)
c.409_411delinsAGC (p.Ser137=)
17g.74920117C>ACA400963696USH1Gc.719G>T (p.Ser240Ile)
c.*318G>T (n.*318G>T)
c.410G>T (p.Ser137Ile)
17g.74920117C=CA2275255447USH1Gc.719G= (p.Ser240=)
c.*318G= (n.*318G=)
c.410G= (p.Ser137=)
17g.74920117C>GCA400963698USH1Gc.719G>C (p.Ser240Thr)
c.*318G>C (n.*318G>C)
c.410G>C (p.Ser137Thr)
17g.74920117C>TCA400963695USH1Gc.719G>A (p.Ser240Asn)
c.*318G>A (n.*318G>A)
c.410G>A (p.Ser137Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.74920119_74920120delCA293984357USH1Gc.718_719del (p.Ser240ArgfsTer?)
c.*317_*318del (n.*317_*318del)
c.409_410del (p.Ser137ArgfsTer?)
 dbSNP
17g.74920118T>ACA400963701USH1Gc.718A>T (p.Ser240Cys)
c.*317A>T (n.*317A>T)
c.409A>T (p.Ser137Cys)
17g.74920118T>CCA400963704USH1Gc.718A>G (p.Ser240Gly)
c.*317A>G (n.*317A>G)
c.409A>G (p.Ser137Gly)
17g.74920118T>GCA400963702USH1Gc.718A>C (p.Ser240Arg)
c.*317A>C (n.*317A>C)
c.409A>C (p.Ser137Arg)
17g.74920119C>ACA400963706USH1Gc.717G>T (p.Lys239Asn)
c.*316G>T (n.*316G>T)
c.408G>T (p.Lys136Asn)
17g.74920119C=CA2275255448USH1Gc.717G= (p.Lys239=)
c.*316G= (n.*316G=)
c.408G= (p.Lys136=)
17g.74920119C>GCA184442USH1Gc.717G>C (p.Lys239Asn)
c.*316G>C (n.*316G>C)
c.408G>C (p.Lys136Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920119C>TCA502036579USH1Gc.717G>A (p.Lys239=)
c.*316G>A (n.*316G>A)
c.408G>A (p.Lys136=)
17g.74920120T>ACA400963709USH1Gc.716A>T (p.Lys239Met)
c.*315A>T (n.*315A>T)
c.407A>T (p.Lys136Met)
17g.74920120T>CCA400963711USH1Gc.716A>G (p.Lys239Arg)
c.*315A>G (n.*315A>G)
c.407A>G (p.Lys136Arg)
 gnomAD v4
17g.74920120T>GCA400963713USH1Gc.716A>C (p.Lys239Thr)
c.*315A>C (n.*315A>C)
c.407A>C (p.Lys136Thr)
17g.74920121T>ACA400963714USH1Gc.715A>T (p.Lys239Ter)
c.*314A>T (n.*314A>T)
c.406A>T (p.Lys136Ter)
17g.74920121T>CCA400963716USH1Gc.715A>G (p.Lys239Glu)
c.*314A>G (n.*314A>G)
c.406A>G (p.Lys136Glu)
17g.74920121T>GCA241855USH1Gc.715A>C (p.Lys239Gln)
c.*314A>C (n.*314A>C)
c.406A>C (p.Lys136Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920121T=CA2275255449USH1Gc.715A= (p.Lys239=)
c.*314A= (n.*314A=)
c.406A= (p.Lys136=)
17g.74920122G>ACA502036583USH1Gc.714C>T (p.Arg238=)
c.*313C>T (n.*313C>T)
c.405C>T (p.Arg135=)
17g.74920122G>CCA502036584USH1Gc.714C>G (p.Arg238=)
c.*313C>G (n.*313C>G)
c.405C>G (p.Arg135=)
17g.74920122G>TCA502036585USH1Gc.714C>A (p.Arg238=)
c.*313C>A (n.*313C>A)
c.405C>A (p.Arg135=)
17g.74920123C>ACA400963721USH1Gc.713G>T (p.Arg238Leu)
c.*312G>T (n.*312G>T)
c.404G>T (p.Arg135Leu)
 ClinVar gnomAD v4
17g.74920123C=CA2275255450USH1Gc.713G= (p.Arg238=)
c.*312G= (n.*312G=)
c.404G= (p.Arg135=)
17g.74920123C>GCA400963723USH1Gc.713G>C (p.Arg238Pro)
c.*312G>C (n.*312G>C)
c.404G>C (p.Arg135Pro)
17g.74920123C>TCA400963725USH1Gc.713G>A (p.Arg238His)
c.*312G>A (n.*312G>A)
c.404G>A (p.Arg135His)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.74920124G>ACA8754019USH1Gc.712C>T (p.Arg238Cys)
c.*311C>T (n.*311C>T)
c.403C>T (p.Arg135Cys)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920124G>CCA400963728USH1Gc.712C>G (p.Arg238Gly)
c.*311C>G (n.*311C>G)
c.403C>G (p.Arg135Gly)
17g.74920124G=CA2275255451USH1Gc.712C= (p.Arg238=)
c.*311C= (n.*311C=)
c.403C= (p.Arg135=)
17g.74920124G>TCA400963730USH1Gc.712C>A (p.Arg238Ser)
c.*311C>A (n.*311C>A)
c.403C>A (p.Arg135Ser)
17g.74920125C>ACA502036589USH1Gc.711G>T (p.Gly237=)
c.*310G>T (n.*310G>T)
c.402G>T (p.Gly134=)
 gnomAD v4
17g.74920125C=CA2275255452USH1Gc.711G= (p.Gly237=)
c.*310G= (n.*310G=)
c.402G= (p.Gly134=)
17g.74920125C>GCA502036591USH1Gc.711G>C (p.Gly237=)
c.*310G>C (n.*310G>C)
c.402G>C (p.Gly134=)
17g.74920125C>TCA502036592USH1Gc.711G>A (p.Gly237=)
c.*310G>A (n.*310G>A)
c.402G>A (p.Gly134=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920127delCA2573054573USH1Gc.711del (p.Arg238AlafsTer16)
c.*310del (n.*310del)
c.402del (p.Arg135AlafsTer16)
 ClinVar dbSNP gnomAD v4
17g.74920126C>ACA400963735USH1Gc.710G>T (p.Gly237Val)
c.*309G>T (n.*309G>T)
c.401G>T (p.Gly134Val)
17g.74920126C>GCA400963737USH1Gc.710G>C (p.Gly237Ala)
c.*309G>C (n.*309G>C)
c.401G>C (p.Gly134Ala)
17g.74920126C>TCA400963739USH1Gc.710G>A (p.Gly237Glu)
c.*309G>A (n.*309G>A)
c.401G>A (p.Gly134Glu)
17g.74920127C>ACA400963743USH1Gc.709G>T (p.Gly237Trp)
c.*308G>T (n.*308G>T)
c.400G>T (p.Gly134Trp)
17g.74920127C=CA2275255453USH1Gc.709G= (p.Gly237=)
c.*308G= (n.*308G=)
c.400G= (p.Gly134=)
17g.74920127C>GCA400963745USH1Gc.709G>C (p.Gly237Arg)
c.*308G>C (n.*308G>C)
c.400G>C (p.Gly134Arg)
17g.74920127C>TCA400963747USH1Gc.709G>A (p.Gly237Arg)
c.*308G>A (n.*308G>A)
c.400G>A (p.Gly134Arg)
 dbSNP gnomAD v3 gnomAD v4
17g.74920128A=CA2275255454USH1Gc.708T= (p.Asp236=)
c.*307T= (n.*307T=)
c.399T= (p.Asp133=)
17g.74920128A>CCA400963751USH1Gc.708T>G (p.Asp236Glu)
c.*307T>G (n.*307T>G)
c.399T>G (p.Asp133Glu)
 ClinVar dbSNP gnomAD v4
17g.74920128A>GCA502036595USH1Gc.708T>C (p.Asp236=)
c.*307T>C (n.*307T>C)
c.399T>C (p.Asp133=)
 gnomAD v4
17g.74920128A>TCA400963753USH1Gc.708T>A (p.Asp236Glu)
c.*307T>A (n.*307T>A)
c.399T>A (p.Asp133Glu)
17g.74920129T>ACA400963756USH1Gc.707A>T (p.Asp236Val)
c.*306A>T (n.*306A>T)
c.398A>T (p.Asp133Val)
 gnomAD v4
17g.74920129T>CCA400963759USH1Gc.707A>G (p.Asp236Gly)
c.*306A>G (n.*306A>G)
c.398A>G (p.Asp133Gly)
17g.74920129T>GCA400963761USH1Gc.707A>C (p.Asp236Ala)
c.*306A>C (n.*306A>C)
c.398A>C (p.Asp133Ala)
17g.74920130C>ACA400963767USH1Gc.706G>T (p.Asp236Tyr)
c.*305G>T (n.*305G>T)
c.397G>T (p.Asp133Tyr)
 gnomAD v4
17g.74920130C=CA2275255455USH1Gc.706G= (p.Asp236=)
c.*305G= (n.*305G=)
c.397G= (p.Asp133=)
17g.74920130C>GCA400963768USH1Gc.706G>C (p.Asp236His)
c.*305G>C (n.*305G>C)
c.397G>C (p.Asp133His)
17g.74920130C>TCA400963765USH1Gc.706G>A (p.Asp236Asn)
c.*305G>A (n.*305G>A)
c.397G>A (p.Asp133Asn)
 dbSNP gnomAD v4
17g.74920130_74920131insTTCA2639748063USH1Gc.705_706insAA (p.Asp236LysfsTer19)
c.*304_*305insAA (n.*304_*305insAA)
c.396_397insAA (p.Asp133LysfsTer19)
 gnomAD v4
17g.74920131C>ACA400963771USH1Gc.705G>T (p.Glu235Asp)
c.*304G>T (n.*304G>T)
c.396G>T (p.Glu132Asp)
17g.74920131C=CA2275255456USH1Gc.705G= (p.Glu235=)
c.*304G= (n.*304G=)
c.396G= (p.Glu132=)
17g.74920131C>GCA400963772USH1Gc.705G>C (p.Glu235Asp)
c.*304G>C (n.*304G>C)
c.396G>C (p.Glu132Asp)
17g.74920131C>TCA142664USH1Gc.705G>A (p.Glu235=)
c.*304G>A (n.*304G>A)
c.396G>A (p.Glu132=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920131_74920132insGGAGACCTTGAAGGTATCTCA2639748069USH1Gc.704_705insAGATACCTTCAAGGTCTCC (p.Gly237ThrfsTer?)
c.*303_*304insAGATACCTTCAAGGTCTCC (n.*303_*304insAGATACCTTCAAGGTCTCC)
c.395_396insAGATACCTTCAAGGTCTCC (p.Gly134ThrfsTer?)
 gnomAD v4
17g.74920132T>ACA400963778USH1Gc.704A>T (p.Glu235Val)
c.*303A>T (n.*303A>T)
c.395A>T (p.Glu132Val)
17g.74920132T>CCA400963779USH1Gc.704A>G (p.Glu235Gly)
c.*303A>G (n.*303A>G)
c.395A>G (p.Glu132Gly)
 ClinVar dbSNP gnomAD v4
17g.74920132T>GCA400963781USH1Gc.704A>C (p.Glu235Ala)
c.*303A>C (n.*303A>C)
c.395A>C (p.Glu132Ala)
17g.74920133C>ACA400963784USH1Gc.703G>T (p.Glu235Ter)
c.*302G>T (n.*302G>T)
c.394G>T (p.Glu132Ter)
17g.74920133C=CA2275255457USH1Gc.703G= (p.Glu235=)
c.*302G= (n.*302G=)
c.394G= (p.Glu132=)
17g.74920133C>GCA400963787USH1Gc.703G>C (p.Glu235Gln)
c.*302G>C (n.*302G>C)
c.394G>C (p.Glu132Gln)
17g.74920133C>TCA8754020USH1Gc.703G>A (p.Glu235Lys)
c.*302G>A (n.*302G>A)
c.394G>A (p.Glu132Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17g.74920134G>ACA502036606USH1Gc.702C>T (p.Ser234=)
c.*301C>T (n.*301C>T)
c.393C>T (p.Ser131=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74920134G>CCA502036605USH1Gc.702C>G (p.Ser234=)
c.*301C>G (n.*301C>G)
c.393C>G (p.Ser131=)
 gnomAD v4
17g.74920134G=CA2275255458USH1Gc.702C= (p.Ser234=)
c.*301C= (n.*301C=)
c.393C= (p.Ser131=)
17g.74920134G>TCA502036603USH1Gc.702C>A (p.Ser234=)
c.*301C>A (n.*301C>A)
c.393C>A (p.Ser131=)
 dbSNP gnomAD v4
17g.74920135G>ACA400963793USH1Gc.701C>T (p.Ser234Phe)
c.*300C>T (n.*300C>T)
c.392C>T (p.Ser131Phe)
 gnomAD v4
17g.74920135G>CCA400963794USH1Gc.701C>G (p.Ser234Cys)
c.*300C>G (n.*300C>G)
c.392C>G (p.Ser131Cys)
17g.74920135G>TCA400963797USH1Gc.701C>A (p.Ser234Tyr)
c.*300C>A (n.*300C>A)
c.392C>A (p.Ser131Tyr)
 gnomAD v4
17g.74920136A>CCA400963799USH1Gc.700T>G (p.Ser234Ala)
c.*299T>G (n.*299T>G)
c.391T>G (p.Ser131Ala)
 gnomAD v4
17g.74920136A>GCA400963800USH1Gc.700T>C (p.Ser234Pro)
c.*299T>C (n.*299T>C)
c.391T>C (p.Ser131Pro)
17g.74920136A>TCA400963798USH1Gc.700T>A (p.Ser234Thr)
c.*299T>A (n.*299T>A)
c.391T>A (p.Ser131Thr)
17g.74920137G>ACA502036610USH1Gc.699C>T (p.Val233=)
c.*298C>T (n.*298C>T)
c.390C>T (p.Val130=)
 COSMIC
17g.74920137G>CCA502036613USH1Gc.699C>G (p.Val233=)
c.*298C>G (n.*298C>G)
c.390C>G (p.Val130=)
 dbSNP
17g.74920137G>TCA502036612USH1Gc.699C>A (p.Val233=)
c.*298C>A (n.*298C>A)
c.390C>A (p.Val130=)
 gnomAD v4
17g.74920138A>CCA400963801USH1Gc.698T>G (p.Val233Gly)
c.*297T>G (n.*297T>G)
c.389T>G (p.Val130Gly)
17g.74920138A>GCA400963802USH1Gc.698T>C (p.Val233Ala)
c.*297T>C (n.*297T>C)
c.389T>C (p.Val130Ala)
17g.74920138A>TCA400963804USH1Gc.698T>A (p.Val233Asp)
c.*297T>A (n.*297T>A)
c.389T>A (p.Val130Asp)
17g.74920139C>ACA400963806USH1Gc.697G>T (p.Val233Phe)
c.*296G>T (n.*296G>T)
c.388G>T (p.Val130Phe)
 gnomAD v4
17g.74920139C>GCA400963807USH1Gc.697G>C (p.Val233Leu)
c.*296G>C (n.*296G>C)
c.388G>C (p.Val130Leu)
17g.74920139C>TCA400963809USH1Gc.697G>A (p.Val233Ile)
c.*296G>A (n.*296G>A)
c.388G>A (p.Val130Ile)
17g.74920139_74920140insGCA913184936USH1Gc.696_697insC (p.Val233ArgfsTer?)
c.*295_*296insC (n.*295_*296insC)
c.387_388insC (p.Val130ArgfsTer?)
17g.74920140C>ACA400963812USH1Gc.696G>T (p.Lys232Asn)
c.*295G>T (n.*295G>T)
c.387G>T (p.Lys129Asn)
 gnomAD v4
17g.74920140C=CA2275255459USH1Gc.696G= (p.Lys232=)
c.*295G= (n.*295G=)
c.387G= (p.Lys129=)
17g.74920140C>GCA400963815USH1Gc.696G>C (p.Lys232Asn)
c.*295G>C (n.*295G>C)
c.387G>C (p.Lys129Asn)
17g.74920140C>TCA502036618USH1Gc.696G>A (p.Lys232=)
c.*295G>A (n.*295G>A)
c.387G>A (p.Lys129=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920141T>ACA400963819USH1Gc.695A>T (p.Lys232Met)
c.*294A>T (n.*294A>T)
c.386A>T (p.Lys129Met)
17g.74920141T>CCA400963821USH1Gc.695A>G (p.Lys232Arg)
c.*294A>G (n.*294A>G)
c.386A>G (p.Lys129Arg)
 dbSNP gnomAD v4
17g.74920141T>GCA400963824USH1Gc.695A>C (p.Lys232Thr)
c.*294A>C (n.*294A>C)
c.386A>C (p.Lys129Thr)
17g.74920141T=CA2275255460USH1Gc.695A= (p.Lys232=)
c.*294A= (n.*294A=)
c.386A= (p.Lys129=)
17g.74920142T>ACA400963825USH1Gc.694A>T (p.Lys232Ter)
c.*293A>T (n.*293A>T)
c.385A>T (p.Lys129Ter)
17g.74920142T>CCA400963827USH1Gc.694A>G (p.Lys232Glu)
c.*293A>G (n.*293A>G)
c.385A>G (p.Lys129Glu)
17g.74920142T>GCA8754021USH1Gc.694A>C (p.Lys232Gln)
c.*293A>C (n.*293A>C)
c.385A>C (p.Lys129Gln)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920142T=CA2275255461USH1Gc.694A= (p.Lys232=)
c.*293A= (n.*293A=)
c.385A= (p.Lys129=)
17g.74920143G>ACA502036622USH1Gc.693C>T (p.Phe231=)
c.*292C>T (n.*292C>T)
c.384C>T (p.Phe128=)
17g.74920143G>CCA400963831USH1Gc.693C>G (p.Phe231Leu)
c.*292C>G (n.*292C>G)
c.384C>G (p.Phe128Leu)
 COSMIC
17g.74920143G>TCA400963833USH1Gc.693C>A (p.Phe231Leu)
c.*292C>A (n.*292C>A)
c.384C>A (p.Phe128Leu)
 gnomAD v4
17g.74920144A=CA2275255462USH1Gc.692T= (p.Phe231=)
c.*291T= (n.*291T=)
c.383T= (p.Phe128=)
17g.74920144A>CCA400963834USH1Gc.692T>G (p.Phe231Cys)
c.*291T>G (n.*291T>G)
c.383T>G (p.Phe128Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74920144A>GCA400963840USH1Gc.692T>C (p.Phe231Ser)
c.*291T>C (n.*291T>C)
c.383T>C (p.Phe128Ser)
17g.74920144A>TCA400963837USH1Gc.692T>A (p.Phe231Tyr)
c.*291T>A (n.*291T>A)
c.383T>A (p.Phe128Tyr)
17g.74920145A>CCA400963844USH1Gc.691T>G (p.Phe231Val)
c.*290T>G (n.*290T>G)
c.382T>G (p.Phe128Val)
17g.74920145A>GCA400963847USH1Gc.691T>C (p.Phe231Leu)
c.*290T>C (n.*290T>C)
c.382T>C (p.Phe128Leu)
17g.74920145A>TCA400963845USH1Gc.691T>A (p.Phe231Ile)
c.*290T>A (n.*290T>A)
c.382T>A (p.Phe128Ile)
 gnomAD v4
17g.74920146G>ACA502036627USH1Gc.690C>T (p.Thr230=)
c.*289C>T (n.*289C>T)
c.381C>T (p.Thr127=)
 dbSNP gnomAD v2 gnomAD v4
17g.74920146G>CCA502036628USH1Gc.690C>G (p.Thr230=)
c.*289C>G (n.*289C>G)
c.381C>G (p.Thr127=)
17g.74920146G=CA2275255463USH1Gc.690C= (p.Thr230=)
c.*289C= (n.*289C=)
c.381C= (p.Thr127=)
17g.74920146G>TCA502036629USH1Gc.690C>A (p.Thr230=)
c.*289C>A (n.*289C>A)
c.381C>A (p.Thr127=)
 gnomAD v4
17g.74920147G>ACA400963850USH1Gc.689C>T (p.Thr230Ile)
c.*288C>T (n.*288C>T)
c.380C>T (p.Thr127Ile)
 COSMIC
17g.74920147G>CCA400963852USH1Gc.689C>G (p.Thr230Ser)
c.*288C>G (n.*288C>G)
c.380C>G (p.Thr127Ser)
 gnomAD v4
17g.74920147G>TCA400963855USH1Gc.689C>A (p.Thr230Asn)
c.*288C>A (n.*288C>A)
c.380C>A (p.Thr127Asn)
 gnomAD v4
17g.74920147_74920161delinsGTGCCTTCGCCGCCCCA2275255464USH1Gc.675_689delinsGGGCGGCGAAGGCAC (p.Gln225=)
c.*274_*288delinsGGGCGGCGAAGGCAC (n.*274_*288delinsGGGCGGCGAAGGCAC)
c.366_380delinsGGGCGGCGAAGGCAC (p.Gln122=)
17g.74920148T>ACA400963857USH1Gc.688A>T (p.Thr230Ser)
c.*287A>T (n.*287A>T)
c.379A>T (p.Thr127Ser)
17g.74920148T>CCA400963860USH1Gc.688A>G (p.Thr230Ala)
c.*287A>G (n.*287A>G)
c.379A>G (p.Thr127Ala)
17g.74920148T>GCA400963861USH1Gc.688A>C (p.Thr230Pro)
c.*287A>C (n.*287A>C)
c.379A>C (p.Thr127Pro)
17g.74920151_74920164delCA2275255465USH1Gc.675_688del (p.Gln225HisfsTer?)
c.*274_*287del (n.*274_*287del)
c.366_379del (p.Gln122HisfsTer?)
 dbSNP
17g.74920149G>ACA502036634USH1Gc.687C>T (p.Gly229=)
c.*286C>T (n.*286C>T)
c.378C>T (p.Gly126=)
 dbSNP gnomAD v4
17g.74920149G>CCA502036635USH1Gc.687C>G (p.Gly229=)
c.*286C>G (n.*286C>G)
c.378C>G (p.Gly126=)
17g.74920149G=CA2275255466USH1Gc.687C= (p.Gly229=)
c.*286C= (n.*286C=)
c.378C= (p.Gly126=)
17g.74920149G>TCA502036636USH1Gc.687C>A (p.Gly229=)
c.*286C>A (n.*286C>A)
c.378C>A (p.Gly126=)
 gnomAD v4
17g.74920150C>ACA400963869USH1Gc.686G>T (p.Gly229Val)
c.*285G>T (n.*285G>T)
c.377G>T (p.Gly126Val)
 gnomAD v4
17g.74920150C>GCA400963864USH1Gc.686G>C (p.Gly229Ala)
c.*285G>C (n.*285G>C)
c.377G>C (p.Gly126Ala)
17g.74920150C>TCA400963866USH1Gc.686G>A (p.Gly229Asp)
c.*285G>A (n.*285G>A)
c.377G>A (p.Gly126Asp)
 gnomAD v4
17g.74920151C>ACA400963873USH1Gc.685G>T (p.Gly229Cys)
c.*284G>T (n.*284G>T)
c.376G>T (p.Gly126Cys)
17g.74920151C>GCA400963875USH1Gc.685G>C (p.Gly229Arg)
c.*284G>C (n.*284G>C)
c.376G>C (p.Gly126Arg)
17g.74920151C>TCA400963877USH1Gc.685G>A (p.Gly229Ser)
c.*284G>A (n.*284G>A)
c.376G>A (p.Gly126Ser)
17g.74920152T>ACA400963879USH1Gc.684A>T (p.Glu228Asp)
c.*283A>T (n.*283A>T)
c.375A>T (p.Glu125Asp)
 dbSNP gnomAD v3 gnomAD v4
17g.74920152T>CCA502036639USH1Gc.684A>G (p.Glu228=)
c.*283A>G (n.*283A>G)
c.375A>G (p.Glu125=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920152T>GCA400963880USH1Gc.684A>C (p.Glu228Asp)
c.*283A>C (n.*283A>C)
c.375A>C (p.Glu125Asp)
 gnomAD v4
17g.74920152T=CA2275255467USH1Gc.684A= (p.Glu228=)
c.*283A= (n.*283A=)
c.375A= (p.Glu125=)
17g.74920152_74920153insAGTACA2810423986USH1Gc.683_684insTACT (p.Glu228AspfsTer?)
c.*282_*283insTACT (n.*282_*283insTACT)
c.374_375insTACT (p.Glu125AspfsTer?)
17g.74920153T>ACA400963883USH1Gc.683A>T (p.Glu228Val)
c.*282A>T (n.*282A>T)
c.374A>T (p.Glu125Val)
17g.74920153T>CCA400963886USH1Gc.683A>G (p.Glu228Gly)
c.*282A>G (n.*282A>G)
c.374A>G (p.Glu125Gly)
17g.74920153T>GCA400963885USH1Gc.683A>C (p.Glu228Ala)
c.*282A>C (n.*282A>C)
c.374A>C (p.Glu125Ala)
17g.74920154C>ACA400963888USH1Gc.682G>T (p.Glu228Ter)
c.*281G>T (n.*281G>T)
c.373G>T (p.Glu125Ter)
 gnomAD v4
17g.74920154C>GCA400963890USH1Gc.682G>C (p.Glu228Gln)
c.*281G>C (n.*281G>C)
c.373G>C (p.Glu125Gln)
17g.74920154C>TCA400963892USH1Gc.682G>A (p.Glu228Lys)
c.*281G>A (n.*281G>A)
c.373G>A (p.Glu125Lys)
 gnomAD v4 COSMIC
17g.74920155_74920159delCA2639748090USH1Gc.678_682del (p.Gly227ArgfsTer?)
c.*277_*281del (n.*277_*281del)
c.369_373del (p.Gly124ArgfsTer?)
 gnomAD v4
17g.74920155G>ACA8754022USH1Gc.681C>T (p.Gly227=)
c.*280C>T (n.*280C>T)
c.372C>T (p.Gly124=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920155G>CCA502036645USH1Gc.681C>G (p.Gly227=)
c.*280C>G (n.*280C>G)
c.372C>G (p.Gly124=)
 dbSNP gnomAD v3 gnomAD v4
17g.74920155G=CA2275255468USH1Gc.681C= (p.Gly227=)
c.*280C= (n.*280C=)
c.372C= (p.Gly124=)
17g.74920155G>TCA502036646USH1Gc.681C>A (p.Gly227=)
c.*280C>A (n.*280C>A)
c.372C>A (p.Gly124=)
 dbSNP gnomAD v4
17g.74920156C>ACA400963897USH1Gc.680G>T (p.Gly227Val)
c.*279G>T (n.*279G>T)
c.371G>T (p.Gly124Val)
17g.74920156C>GCA400963899USH1Gc.680G>C (p.Gly227Ala)
c.*279G>C (n.*279G>C)
c.371G>C (p.Gly124Ala)
17g.74920156C>TCA400963901USH1Gc.680G>A (p.Gly227Asp)
c.*279G>A (n.*279G>A)
c.371G>A (p.Gly124Asp)
 gnomAD v4
17g.74920157C>ACA400963904USH1Gc.679G>T (p.Gly227Cys)
c.*278G>T (n.*278G>T)
c.370G>T (p.Gly124Cys)
 gnomAD v4
17g.74920157C>GCA400963907USH1Gc.679G>C (p.Gly227Arg)
c.*278G>C (n.*278G>C)
c.370G>C (p.Gly124Arg)
17g.74920157C>TCA400963908USH1Gc.679G>A (p.Gly227Ser)
c.*278G>A (n.*278G>A)
c.370G>A (p.Gly124Ser)
 COSMIC
17g.74920158G>ACA502036651USH1Gc.678C>T (p.Gly226=)
c.*277C>T (n.*277C>T)
c.369C>T (p.Gly123=)
 gnomAD v4
17g.74920158G>CCA502036650USH1Gc.678C>G (p.Gly226=)
c.*277C>G (n.*277C>G)
c.369C>G (p.Gly123=)
17g.74920158G=CA2275255469USH1Gc.678C= (p.Gly226=)
c.*277C= (n.*277C=)
c.369C= (p.Gly123=)
17g.74920158G>TCA142662USH1Gc.678C>A (p.Gly226=)
c.*277C>A (n.*277C>A)
c.369C>A (p.Gly123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920159C>ACA400963917USH1Gc.677G>T (p.Gly226Val)
c.*276G>T (n.*276G>T)
c.368G>T (p.Gly123Val)
 gnomAD v4
17g.74920159C=CA2275255470USH1Gc.677G= (p.Gly226=)
c.*276G= (n.*276G=)
c.368G= (p.Gly123=)
17g.74920159C>GCA400963920USH1Gc.677G>C (p.Gly226Ala)
c.*276G>C (n.*276G>C)
c.368G>C (p.Gly123Ala)
17g.74920159C>TCA8754023USH1Gc.677G>A (p.Gly226Asp)
c.*276G>A (n.*276G>A)
c.368G>A (p.Gly123Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920160C>ACA400963923USH1Gc.676G>T (p.Gly226Cys)
c.*275G>T (n.*275G>T)
c.367G>T (p.Gly123Cys)
17g.74920160C=CA2275255471USH1Gc.676G= (p.Gly226=)
c.*275G= (n.*275G=)
c.367G= (p.Gly123=)
17g.74920160C>GCA400963926USH1Gc.676G>C (p.Gly226Arg)
c.*275G>C (n.*275G>C)
c.367G>C (p.Gly123Arg)
17g.74920160C>TCA8754024USH1Gc.676G>A (p.Gly226Ser)
c.*275G>A (n.*275G>A)
c.367G>A (p.Gly123Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74920161C>ACA400963934USH1Gc.675G>T (p.Gln225His)
c.*274G>T (n.*274G>T)
c.366G>T (p.Gln122His)
17g.74920161C>GCA400963937USH1Gc.675G>C (p.Gln225His)
c.*274G>C (n.*274G>C)
c.366G>C (p.Gln122His)
17g.74920161C>TCA502036655USH1Gc.675G>A (p.Gln225=)
c.*274G>A (n.*274G>A)
c.366G>A (p.Gln122=)
 gnomAD v4
17g.74920162T>ACA400963946USH1Gc.674A>T (p.Gln225Leu)
c.*273A>T (n.*273A>T)
c.365A>T (p.Gln122Leu)
 dbSNP gnomAD v2
17g.74920162T>CCA400963949USH1Gc.674A>G (p.Gln225Arg)
c.*273A>G (n.*273A>G)
c.365A>G (p.Gln122Arg)
17g.74920162T>GCA400963953USH1Gc.674A>C (p.Gln225Pro)
c.*273A>C (n.*273A>C)
c.365A>C (p.Gln122Pro)
17g.74920162T=CA2275255472USH1Gc.674A= (p.Gln225=)
c.*273A= (n.*273A=)
c.365A= (p.Gln122=)
17g.74920163G>ACA400963955USH1Gc.673C>T (p.Gln225Ter)
c.*272C>T (n.*272C>T)
c.364C>T (p.Gln122Ter)
 gnomAD v4
17g.74920163G>CCA400963960USH1Gc.673C>G (p.Gln225Glu)
c.*272C>G (n.*272C>G)
c.364C>G (p.Gln122Glu)
17g.74920163G>TCA400963970USH1Gc.673C>A (p.Gln225Lys)
c.*272C>A (n.*272C>A)
c.364C>A (p.Gln122Lys)
 gnomAD v4
17g.74920164C>ACA400963977USH1Gc.672G>T (p.Lys224Asn)
c.*271G>T (n.*271G>T)
c.363G>T (p.Lys121Asn)
 gnomAD v4
17g.74920164C>GCA400963973USH1Gc.672G>C (p.Lys224Asn)
c.*271G>C (n.*271G>C)
c.363G>C (p.Lys121Asn)
17g.74920164C>TCA502036662USH1Gc.672G>A (p.Lys224=)
c.*271G>A (n.*271G>A)
c.363G>A (p.Lys121=)
 gnomAD v4
17g.74920165T>ACA400963980USH1Gc.671A>T (p.Lys224Met)
c.*270A>T (n.*270A>T)
c.362A>T (p.Lys121Met)
17g.74920165T>CCA400963984USH1Gc.671A>G (p.Lys224Arg)
c.*270A>G (n.*270A>G)
c.362A>G (p.Lys121Arg)
 gnomAD v4
17g.74920165T>GCA400963988USH1Gc.671A>C (p.Lys224Thr)
c.*270A>C (n.*270A>C)
c.362A>C (p.Lys121Thr)
17g.74920166T>ACA400963991USH1Gc.670A>T (p.Lys224Ter)
c.*269A>T (n.*269A>T)
c.361A>T (p.Lys121Ter)
17g.74920166T>CCA400963994USH1Gc.670A>G (p.Lys224Glu)
c.*269A>G (n.*269A>G)
c.361A>G (p.Lys121Glu)
17g.74920166T>GCA400963995USH1Gc.670A>C (p.Lys224Gln)
c.*269A>C (n.*269A>C)
c.361A>C (p.Lys121Gln)
17g.74920167delCA2639748101USH1Gc.669del (p.Lys224SerfsTer?)
c.*268del (n.*268del)
c.360del (p.Lys121SerfsTer?)
 gnomAD v4
17g.74920167G>ACA502036667USH1Gc.669C>T (p.Arg223=)
c.*268C>T (n.*268C>T)
c.360C>T (p.Arg120=)
 gnomAD v4
17g.74920167G>CCA502036670USH1Gc.669C>G (p.Arg223=)
c.*268C>G (n.*268C>G)
c.360C>G (p.Arg120=)
 gnomAD v4
17g.74920167G>TCA502036668USH1Gc.669C>A (p.Arg223=)
c.*268C>A (n.*268C>A)
c.360C>A (p.Arg120=)
17g.74920168C>ACA400963999USH1Gc.668G>T (p.Arg223Leu)
c.*267G>T (n.*267G>T)
c.359G>T (p.Arg120Leu)
17g.74920168C=CA2275255473USH1Gc.668G= (p.Arg223=)
c.*267G= (n.*267G=)
c.359G= (p.Arg120=)
17g.74920168C>GCA400964002USH1Gc.668G>C (p.Arg223Pro)
c.*267G>C (n.*267G>C)
c.359G>C (p.Arg120Pro)
 gnomAD v4
17g.74920168C>TCA8754025USH1Gc.668G>A (p.Arg223His)
c.*267G>A (n.*267G>A)
c.359G>A (p.Arg120His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74920169G>ACA400964008USH1Gc.667C>T (p.Arg223Cys)
c.*266C>T (n.*266C>T)
c.358C>T (p.Arg120Cys)
 dbSNP gnomAD v2 gnomAD v4
17g.74920169G>CCA400964010USH1Gc.667C>G (p.Arg223Gly)
c.*266C>G (n.*266C>G)
c.358C>G (p.Arg120Gly)
17g.74920169G=CA2275255474USH1Gc.667C= (p.Arg223=)
c.*266C= (n.*266C=)
c.358C= (p.Arg120=)
17g.74920169G>TCA400964012USH1Gc.667C>A (p.Arg223Ser)
c.*266C>A (n.*266C>A)
c.358C>A (p.Arg120Ser)
 gnomAD v4
17g.74920170C>ACA502036676USH1Gc.666G>T (p.Arg222=)
c.*265G>T (n.*265G>T)
c.357G>T (p.Arg119=)
17g.74920170C>GCA502036677USH1Gc.666G>C (p.Arg222=)
c.*265G>C (n.*265G>C)
c.357G>C (p.Arg119=)
17g.74920170C>TCA502036678USH1Gc.666G>A (p.Arg222=)
c.*265G>A (n.*265G>A)
c.357G>A (p.Arg119=)
 gnomAD v4
17g.74920171delCA2573154822USH1Gc.666del (p.Arg223AlafsTer?)
c.*265del (n.*265del)
c.357del (p.Arg120AlafsTer?)
 ClinVar dbSNP
17g.74920171C>ACA400964017USH1Gc.665G>T (p.Arg222Leu)
c.*264G>T (n.*264G>T)
c.356G>T (p.Arg119Leu)
 gnomAD v4
17g.74920171C=CA2275255475USH1Gc.665G= (p.Arg222=)
c.*264G= (n.*264G=)
c.356G= (p.Arg119=)
17g.74920171C>GCA400964020USH1Gc.665G>C (p.Arg222Pro)
c.*264G>C (n.*264G>C)
c.356G>C (p.Arg119Pro)
 dbSNP gnomAD v3 gnomAD v4
17g.74920171C>TCA293984385USH1Gc.665G>A (p.Arg222Gln)
c.*264G>A (n.*264G>A)
c.356G>A (p.Arg119Gln)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
17g.74920172G>ACA400964030USH1Gc.664C>T (p.Arg222Trp)
c.*263C>T (n.*263C>T)
c.355C>T (p.Arg119Trp)
 gnomAD v4
17g.74920172G>CCA400964025USH1Gc.664C>G (p.Arg222Gly)
c.*263C>G (n.*263C>G)
c.355C>G (p.Arg119Gly)
 gnomAD v4
17g.74920172G=CA2275255476USH1Gc.664C= (p.Arg222=)
c.*263C= (n.*263C=)
c.355C= (p.Arg119=)
17g.74920172G>TCA502036682USH1Gc.664C>A (p.Arg222=)
c.*263C>A (n.*263C>A)
c.355C>A (p.Arg119=)
 dbSNP gnomAD v4
17g.74920173C>ACA400964034USH1Gc.663G>T (p.Glu221Asp)
c.*262G>T (n.*262G>T)
c.354G>T (p.Glu118Asp)
17g.74920173C>GCA400964035USH1Gc.663G>C (p.Glu221Asp)
c.*262G>C (n.*262G>C)
c.354G>C (p.Glu118Asp)
17g.74920173C>TCA502036683USH1Gc.663G>A (p.Glu221=)
c.*262G>A (n.*262G>A)
c.354G>A (p.Glu118=)
 gnomAD v4

Number of alleles fetched