Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.74919541_74919550dupCA2695226989USH1Gc.1286_1295dup (p.Leu433GlnfsTer?)
c.*885_*894dup (n.*885_*894dup)
c.977_986dup (p.Leu330GlnfsTer?)
17g.74919547C>ACA400961280USH1Gc.1289G>T (p.Ser430Ile)
c.*888G>T (n.*888G>T)
c.980G>T (p.Ser327Ile)
 gnomAD v4
17g.74919547C=CA2275255139USH1Gc.1289G= (p.Ser430=)
c.*888G= (n.*888G=)
c.980G= (p.Ser327=)
17g.74919547C>GCA400961281USH1Gc.1289G>C (p.Ser430Thr)
c.*888G>C (n.*888G>C)
c.980G>C (p.Ser327Thr)
17g.74919547C>TCA400961282USH1Gc.1289G>A (p.Ser430Asn)
c.*888G>A (n.*888G>A)
c.980G>A (p.Ser327Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
17g.74919548T>ACA400961283USH1Gc.1288A>T (p.Ser430Cys)
c.*887A>T (n.*887A>T)
c.979A>T (p.Ser327Cys)
17g.74919548T>CCA400961285USH1Gc.1288A>G (p.Ser430Gly)
c.*887A>G (n.*887A>G)
c.979A>G (p.Ser327Gly)
17g.74919548T>GCA400961284USH1Gc.1288A>C (p.Ser430Arg)
c.*887A>C (n.*887A>C)
c.979A>C (p.Ser327Arg)
17g.74919549G>ACA502036406USH1Gc.1287C>T (p.Ile429=)
c.*886C>T (n.*886C>T)
c.978C>T (p.Ile326=)
17g.74919549G>CCA400961286USH1Gc.1287C>G (p.Ile429Met)
c.*886C>G (n.*886C>G)
c.978C>G (p.Ile326Met)
17g.74919549G>TCA502036405USH1Gc.1287C>A (p.Ile429=)
c.*886C>A (n.*886C>A)
c.978C>A (p.Ile326=)
17g.74919550A=CA2275255140USH1Gc.1286T= (p.Ile429=)
c.*885T= (n.*885T=)
c.977T= (p.Ile326=)
17g.74919550A>CCA8753894USH1Gc.1286T>G (p.Ile429Ser)
c.*885T>G (n.*885T>G)
c.977T>G (p.Ile326Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919550A>GCA400961287USH1Gc.1286T>C (p.Ile429Thr)
c.*885T>C (n.*885T>C)
c.977T>C (p.Ile326Thr)
17g.74919550A>TCA400961288USH1Gc.1286T>A (p.Ile429Asn)
c.*885T>A (n.*885T>A)
c.977T>A (p.Ile326Asn)
17g.74919551T>ACA400961289USH1Gc.1285A>T (p.Ile429Phe)
c.*884A>T (n.*884A>T)
c.976A>T (p.Ile326Phe)
17g.74919551T>CCA8753895USH1Gc.1285A>G (p.Ile429Val)
c.*884A>G (n.*884A>G)
c.976A>G (p.Ile326Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919551T>GCA400961290USH1Gc.1285A>C (p.Ile429Leu)
c.*884A>C (n.*884A>C)
c.976A>C (p.Ile326Leu)
17g.74919551T=CA2275255141USH1Gc.1285A= (p.Ile429=)
c.*884A= (n.*884A=)
c.976A= (p.Ile326=)
17g.74919552G>ACA502036407USH1Gc.1284C>T (p.Ser428=)
c.*883C>T (n.*883C>T)
c.975C>T (p.Ser325=)
17g.74919552G>CCA400961291USH1Gc.1284C>G (p.Ser428Arg)
c.*883C>G (n.*883C>G)
c.975C>G (p.Ser325Arg)
17g.74919552G=CA2275255142USH1Gc.1284C= (p.Ser428=)
c.*883C= (n.*883C=)
c.975C= (p.Ser325=)
17g.74919552G>TCA400961292USH1Gc.1284C>A (p.Ser428Arg)
c.*883C>A (n.*883C>A)
c.975C>A (p.Ser325Arg)
 dbSNP
17g.74919553C>ACA400961293USH1Gc.1283G>T (p.Ser428Ile)
c.*882G>T (n.*882G>T)
c.974G>T (p.Ser325Ile)
17g.74919553C>GCA400961294USH1Gc.1283G>C (p.Ser428Thr)
c.*882G>C (n.*882G>C)
c.974G>C (p.Ser325Thr)
17g.74919553C>TCA400961295USH1Gc.1283G>A (p.Ser428Asn)
c.*882G>A (n.*882G>A)
c.974G>A (p.Ser325Asn)
 gnomAD v4 COSMIC
17g.74919554T>ACA400961296USH1Gc.1282A>T (p.Ser428Cys)
c.*881A>T (n.*881A>T)
c.973A>T (p.Ser325Cys)
17g.74919554T>CCA400961297USH1Gc.1282A>G (p.Ser428Gly)
c.*881A>G (n.*881A>G)
c.973A>G (p.Ser325Gly)
17g.74919554T>GCA400961298USH1Gc.1282A>C (p.Ser428Arg)
c.*881A>C (n.*881A>C)
c.973A>C (p.Ser325Arg)
17g.74919555G>ACA293983453USH1Gc.1281C>T (p.Arg427=)
c.*880C>T (n.*880C>T)
c.972C>T (p.Arg324=)
 dbSNP
17g.74919555G>CCA502036411USH1Gc.1281C>G (p.Arg427=)
c.*880C>G (n.*880C>G)
c.972C>G (p.Arg324=)
17g.74919555G=CA2275255143USH1Gc.1281C= (p.Arg427=)
c.*880C= (n.*880C=)
c.972C= (p.Arg324=)
17g.74919555G>TCA502036409USH1Gc.1281C>A (p.Arg427=)
c.*880C>A (n.*880C>A)
c.972C>A (p.Arg324=)
17g.74919556C>ACA400961299USH1Gc.1280G>T (p.Arg427Leu)
c.*879G>T (n.*879G>T)
c.971G>T (p.Arg324Leu)
 gnomAD v4
17g.74919556C>GCA400961300USH1Gc.1280G>C (p.Arg427Pro)
c.*879G>C (n.*879G>C)
c.971G>C (p.Arg324Pro)
17g.74919556C>TCA400961301USH1Gc.1280G>A (p.Arg427His)
c.*879G>A (n.*879G>A)
c.971G>A (p.Arg324His)
 ClinVar gnomAD v4 COSMIC
17g.74919557G>ACA8753896USH1Gc.1279C>T (p.Arg427Cys)
c.*878C>T (n.*878C>T)
c.970C>T (p.Arg324Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919557G>CCA8753897USH1Gc.1279C>G (p.Arg427Gly)
c.*878C>G (n.*878C>G)
c.970C>G (p.Arg324Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919557G=CA2275255144USH1Gc.1279C= (p.Arg427=)
c.*878C= (n.*878C=)
c.970C= (p.Arg324=)
17g.74919557G>TCA400961302USH1Gc.1279C>A (p.Arg427Ser)
c.*878C>A (n.*878C>A)
c.970C>A (p.Arg324Ser)
17g.74919558G>ACA502036412USH1Gc.1278C>T (p.Leu426=)
c.*877C>T (n.*877C>T)
c.969C>T (p.Leu323=)
17g.74919558G>CCA502036413USH1Gc.1278C>G (p.Leu426=)
c.*877C>G (n.*877C>G)
c.969C>G (p.Leu323=)
17g.74919558G=CA2275255145USH1Gc.1278C= (p.Leu426=)
c.*877C= (n.*877C=)
c.969C= (p.Leu323=)
17g.74919558G>TCA502036415USH1Gc.1278C>A (p.Leu426=)
c.*877C>A (n.*877C>A)
c.969C>A (p.Leu323=)
 dbSNP
17g.74919559A>CCA400961303USH1Gc.1277T>G (p.Leu426Arg)
c.*876T>G (n.*876T>G)
c.968T>G (p.Leu323Arg)
17g.74919559A>GCA400961304USH1Gc.1277T>C (p.Leu426Pro)
c.*876T>C (n.*876T>C)
c.968T>C (p.Leu323Pro)
17g.74919559A>TCA400961305USH1Gc.1277T>A (p.Leu426His)
c.*876T>A (n.*876T>A)
c.968T>A (p.Leu323His)
17g.74919560G>ACA400961306USH1Gc.1276C>T (p.Leu426Phe)
c.*875C>T (n.*875C>T)
c.967C>T (p.Leu323Phe)
 dbSNP
17g.74919560G>CCA400961307USH1Gc.1276C>G (p.Leu426Val)
c.*875C>G (n.*875C>G)
c.967C>G (p.Leu323Val)
17g.74919560G=CA2275255146USH1Gc.1276C= (p.Leu426=)
c.*875C= (n.*875C=)
c.967C= (p.Leu323=)
17g.74919560G>TCA400961308USH1Gc.1276C>A (p.Leu426Ile)
c.*875C>A (n.*875C>A)
c.967C>A (p.Leu323Ile)
17g.74919561G>ACA502036420USH1Gc.1275C>T (p.Asp425=)
c.*874C>T (n.*874C>T)
c.966C>T (p.Asp322=)
 dbSNP gnomAD v4
17g.74919561G>CCA400961309USH1Gc.1275C>G (p.Asp425Glu)
c.*874C>G (n.*874C>G)
c.966C>G (p.Asp322Glu)
17g.74919561G=CA2275255147USH1Gc.1275C= (p.Asp425=)
c.*874C= (n.*874C=)
c.966C= (p.Asp322=)
17g.74919561G>TCA400961310USH1Gc.1275C>A (p.Asp425Glu)
c.*874C>A (n.*874C>A)
c.966C>A (p.Asp322Glu)
 dbSNP gnomAD v3 gnomAD v4
17g.74919562T>ACA400961311USH1Gc.1274A>T (p.Asp425Val)
c.*873A>T (n.*873A>T)
c.965A>T (p.Asp322Val)
17g.74919562T>CCA400961312USH1Gc.1274A>G (p.Asp425Gly)
c.*873A>G (n.*873A>G)
c.965A>G (p.Asp322Gly)
17g.74919562T>GCA400961313USH1Gc.1274A>C (p.Asp425Ala)
c.*873A>C (n.*873A>C)
c.965A>C (p.Asp322Ala)
 dbSNP gnomAD v2
17g.74919562T=CA2275255148USH1Gc.1274A= (p.Asp425=)
c.*873A= (n.*873A=)
c.965A= (p.Asp322=)
17g.74919570_74919596delCA2639747027USH1Gc.1248_1274del (p.Glu416_Leu424del)
c.*847_*873del (n.*847_*873del)
c.939_965del (p.Glu313_Leu321del)
 gnomAD v4
17g.74919563C>ACA8753898USH1Gc.1273G>T (p.Asp425Tyr)
c.*872G>T (n.*872G>T)
c.964G>T (p.Asp322Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919563C=CA2275255149USH1Gc.1273G= (p.Asp425=)
c.*872G= (n.*872G=)
c.964G= (p.Asp322=)
17g.74919563C>GCA400961315USH1Gc.1273G>C (p.Asp425His)
c.*872G>C (n.*872G>C)
c.964G>C (p.Asp322His)
 dbSNP
17g.74919563C>TCA400961314USH1Gc.1273G>A (p.Asp425Asn)
c.*872G>A (n.*872G>A)
c.964G>A (p.Asp322Asn)
 dbSNP gnomAD v2 gnomAD v4
17g.74919564G>ACA8753899USH1Gc.1272C>T (p.Leu424=)
c.*871C>T (n.*871C>T)
c.963C>T (p.Leu321=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919564G>CCA502036426USH1Gc.1272C>G (p.Leu424=)
c.*871C>G (n.*871C>G)
c.963C>G (p.Leu321=)
17g.74919564G=CA2275255150USH1Gc.1272C= (p.Leu424=)
c.*871C= (n.*871C=)
c.963C= (p.Leu321=)
17g.74919564G>TCA502036427USH1Gc.1272C>A (p.Leu424=)
c.*871C>A (n.*871C>A)
c.963C>A (p.Leu321=)
17g.74919565A=CA2275255151USH1Gc.1271T= (p.Leu424=)
c.*870T= (n.*870T=)
c.962T= (p.Leu321=)
17g.74919565A>CCA400961316USH1Gc.1271T>G (p.Leu424Arg)
c.*870T>G (n.*870T>G)
c.962T>G (p.Leu321Arg)
 dbSNP gnomAD v2 gnomAD v4
17g.74919565A>GCA400961317USH1Gc.1271T>C (p.Leu424Pro)
c.*870T>C (n.*870T>C)
c.962T>C (p.Leu321Pro)
17g.74919565A>TCA400961318USH1Gc.1271T>A (p.Leu424His)
c.*870T>A (n.*870T>A)
c.962T>A (p.Leu321His)
17g.74919566G>ACA400961319USH1Gc.1270C>T (p.Leu424Phe)
c.*869C>T (n.*869C>T)
c.961C>T (p.Leu321Phe)
17g.74919566G>CCA293983465USH1Gc.1270C>G (p.Leu424Val)
c.*869C>G (n.*869C>G)
c.961C>G (p.Leu321Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919566G=CA2275255152USH1Gc.1270C= (p.Leu424=)
c.*869C= (n.*869C=)
c.961C= (p.Leu321=)
17g.74919566G>TCA400961320USH1Gc.1270C>A (p.Leu424Ile)
c.*869C>A (n.*869C>A)
c.961C>A (p.Leu321Ile)
17g.74919567G>ACA502036434USH1Gc.1269C>T (p.Asp423=)
c.*868C>T (n.*868C>T)
c.960C>T (p.Asp320=)
17g.74919567G>CCA400961321USH1Gc.1269C>G (p.Asp423Glu)
c.*868C>G (n.*868C>G)
c.960C>G (p.Asp320Glu)
17g.74919567G>TCA400961322USH1Gc.1269C>A (p.Asp423Glu)
c.*868C>A (n.*868C>A)
c.960C>A (p.Asp320Glu)
17g.74919568T>ACA400961323USH1Gc.1268A>T (p.Asp423Val)
c.*867A>T (n.*867A>T)
c.959A>T (p.Asp320Val)
17g.74919568T>CCA400961324USH1Gc.1268A>G (p.Asp423Gly)
c.*867A>G (n.*867A>G)
c.959A>G (p.Asp320Gly)
 COSMIC
17g.74919568T>GCA400961325USH1Gc.1268A>C (p.Asp423Ala)
c.*867A>C (n.*867A>C)
c.959A>C (p.Asp320Ala)
17g.74919569C>ACA400961328USH1Gc.1267G>T (p.Asp423Tyr)
c.*866G>T (n.*866G>T)
c.958G>T (p.Asp320Tyr)
17g.74919569C=CA2275255153USH1Gc.1267G= (p.Asp423=)
c.*866G= (n.*866G=)
c.958G= (p.Asp320=)
17g.74919569C>GCA400961327USH1Gc.1267G>C (p.Asp423His)
c.*866G>C (n.*866G>C)
c.958G>C (p.Asp320His)
17g.74919569C>TCA400961326USH1Gc.1267G>A (p.Asp423Asn)
c.*866G>A (n.*866G>A)
c.958G>A (p.Asp320Asn)
 dbSNP
17g.74919570A>CCA502036440USH1Gc.1266T>G (p.Ser422=)
c.*865T>G (n.*865T>G)
c.957T>G (p.Ser319=)
17g.74919570A>GCA502036439USH1Gc.1266T>C (p.Ser422=)
c.*865T>C (n.*865T>C)
c.957T>C (p.Ser319=)
17g.74919570A>TCA502036438USH1Gc.1266T>A (p.Ser422=)
c.*865T>A (n.*865T>A)
c.957T>A (p.Ser319=)
17g.74919571G>ACA400961329USH1Gc.1265C>T (p.Ser422Phe)
c.*864C>T (n.*864C>T)
c.956C>T (p.Ser319Phe)
17g.74919571G>CCA400961330USH1Gc.1265C>G (p.Ser422Cys)
c.*864C>G (n.*864C>G)
c.956C>G (p.Ser319Cys)
17g.74919571G>TCA400961331USH1Gc.1265C>A (p.Ser422Tyr)
c.*864C>A (n.*864C>A)
c.956C>A (p.Ser319Tyr)
17g.74919572A=CA2275255154USH1Gc.1264T= (p.Ser422=)
c.*863T= (n.*863T=)
c.955T= (p.Ser319=)
17g.74919572A>CCA400961332USH1Gc.1264T>G (p.Ser422Ala)
c.*863T>G (n.*863T>G)
c.955T>G (p.Ser319Ala)
 dbSNP
17g.74919572A>GCA400961333USH1Gc.1264T>C (p.Ser422Pro)
c.*863T>C (n.*863T>C)
c.955T>C (p.Ser319Pro)
 dbSNP gnomAD v2 gnomAD v4
17g.74919572A>TCA400961334USH1Gc.1264T>A (p.Ser422Thr)
c.*863T>A (n.*863T>A)
c.955T>A (p.Ser319Thr)
17g.74919573G>ACA502036445USH1Gc.1263C>T (p.Cys421=)
c.*862C>T (n.*862C>T)
c.954C>T (p.Cys318=)
 dbSNP gnomAD v2
17g.74919573G>CCA400961336USH1Gc.1263C>G (p.Cys421Trp)
c.*862C>G (n.*862C>G)
c.954C>G (p.Cys318Trp)
17g.74919573G=CA2275255155USH1Gc.1263C= (p.Cys421=)
c.*862C= (n.*862C=)
c.954C= (p.Cys318=)
17g.74919573G>TCA400961335USH1Gc.1263C>A (p.Cys421Ter)
c.*862C>A (n.*862C>A)
c.954C>A (p.Cys318Ter)
17g.74919574C>ACA400961337USH1Gc.1262G>T (p.Cys421Phe)
c.*861G>T (n.*861G>T)
c.953G>T (p.Cys318Phe)
17g.74919574C>GCA400961338USH1Gc.1262G>C (p.Cys421Ser)
c.*861G>C (n.*861G>C)
c.953G>C (p.Cys318Ser)
17g.74919574C>TCA400961339USH1Gc.1262G>A (p.Cys421Tyr)
c.*861G>A (n.*861G>A)
c.953G>A (p.Cys318Tyr)
17g.74919575A>CCA400961340USH1Gc.1261T>G (p.Cys421Gly)
c.*860T>G (n.*860T>G)
c.952T>G (p.Cys318Gly)
17g.74919575A>GCA400961341USH1Gc.1261T>C (p.Cys421Arg)
c.*860T>C (n.*860T>C)
c.952T>C (p.Cys318Arg)
17g.74919575A>TCA400961342USH1Gc.1261T>A (p.Cys421Ser)
c.*860T>A (n.*860T>A)
c.952T>A (p.Cys318Ser)
17g.74919576C>ACA502036455USH1Gc.1260G>T (p.Leu420=)
c.*859G>T (n.*859G>T)
c.951G>T (p.Leu317=)
17g.74919576C>GCA502036450USH1Gc.1260G>C (p.Leu420=)
c.*859G>C (n.*859G>C)
c.951G>C (p.Leu317=)
17g.74919576C>TCA502036454USH1Gc.1260G>A (p.Leu420=)
c.*859G>A (n.*859G>A)
c.951G>A (p.Leu317=)
 gnomAD v4
17g.74919577A=CA2275255156USH1Gc.1259T= (p.Leu420=)
c.*858T= (n.*858T=)
c.950T= (p.Leu317=)
17g.74919577A>CCA400961344USH1Gc.1259T>G (p.Leu420Arg)
c.*858T>G (n.*858T>G)
c.950T>G (p.Leu317Arg)
17g.74919577A>GCA8753900USH1Gc.1259T>C (p.Leu420Pro)
c.*858T>C (n.*858T>C)
c.950T>C (p.Leu317Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919577A>TCA400961343USH1Gc.1259T>A (p.Leu420Gln)
c.*858T>A (n.*858T>A)
c.950T>A (p.Leu317Gln)
17g.74919578G>ACA502036460USH1Gc.1258C>T (p.Leu420=)
c.*857C>T (n.*857C>T)
c.949C>T (p.Leu317=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919578G>CCA142646USH1Gc.1258C>G (p.Leu420Val)
c.*857C>G (n.*857C>G)
c.949C>G (p.Leu317Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919578G=CA2275255157USH1Gc.1258C= (p.Leu420=)
c.*857C= (n.*857C=)
c.949C= (p.Leu317=)
17g.74919578G>TCA400961345USH1Gc.1258C>A (p.Leu420Met)
c.*857C>A (n.*857C>A)
c.949C>A (p.Leu317Met)
17g.74919579C>ACA400961346USH1Gc.1257G>T (p.Met419Ile)
c.*856G>T (n.*856G>T)
c.948G>T (p.Met316Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.74919579C=CA2275255158USH1Gc.1257G= (p.Met419=)
c.*856G= (n.*856G=)
c.948G= (p.Met316=)
17g.74919579C>GCA400961347USH1Gc.1257G>C (p.Met419Ile)
c.*856G>C (n.*856G>C)
c.948G>C (p.Met316Ile)
17g.74919579C>TCA400961348USH1Gc.1257G>A (p.Met419Ile)
c.*856G>A (n.*856G>A)
c.948G>A (p.Met316Ile)
 dbSNP gnomAD v2 gnomAD v4
17g.74919580A>CCA400961349USH1Gc.1256T>G (p.Met419Arg)
c.*855T>G (n.*855T>G)
c.947T>G (p.Met316Arg)
17g.74919580A>GCA400961350USH1Gc.1256T>C (p.Met419Thr)
c.*855T>C (n.*855T>C)
c.947T>C (p.Met316Thr)
17g.74919580A>TCA400961351USH1Gc.1256T>A (p.Met419Lys)
c.*855T>A (n.*855T>A)
c.947T>A (p.Met316Lys)
17g.74919581T>ACA400961352USH1Gc.1255A>T (p.Met419Leu)
c.*854A>T (n.*854A>T)
c.946A>T (p.Met316Leu)
17g.74919581T>CCA400961353USH1Gc.1255A>G (p.Met419Val)
c.*854A>G (n.*854A>G)
c.946A>G (p.Met316Val)
17g.74919581T>GCA400961354USH1Gc.1255A>C (p.Met419Leu)
c.*854A>C (n.*854A>C)
c.946A>C (p.Met316Leu)
17g.74919582C>ACA400961355USH1Gc.1254G>T (p.Leu418Phe)
c.*853G>T (n.*853G>T)
c.945G>T (p.Leu315Phe)
17g.74919582C>GCA400961356USH1Gc.1254G>C (p.Leu418Phe)
c.*853G>C (n.*853G>C)
c.945G>C (p.Leu315Phe)
17g.74919582C>TCA502036472USH1Gc.1254G>A (p.Leu418=)
c.*853G>A (n.*853G>A)
c.945G>A (p.Leu315=)
17g.74919583A>CCA400961357USH1Gc.1253T>G (p.Leu418Trp)
c.*852T>G (n.*852T>G)
c.944T>G (p.Leu315Trp)
17g.74919583A>GCA400961359USH1Gc.1253T>C (p.Leu418Ser)
c.*852T>C (n.*852T>C)
c.944T>C (p.Leu315Ser)
17g.74919583A>TCA400961358USH1Gc.1253T>A (p.Leu418Ter)
c.*852T>A (n.*852T>A)
c.944T>A (p.Leu315Ter)
17g.74919584A>CCA400961360USH1Gc.1252T>G (p.Leu418Val)
c.*851T>G (n.*851T>G)
c.943T>G (p.Leu315Val)
17g.74919584A>GCA502036476USH1Gc.1252T>C (p.Leu418=)
c.*851T>C (n.*851T>C)
c.943T>C (p.Leu315=)
17g.74919584A>TCA400961361USH1Gc.1252T>A (p.Leu418Met)
c.*851T>A (n.*851T>A)
c.943T>A (p.Leu315Met)
17g.74919585A>CCA502036478USH1Gc.1251T>G (p.Ala417=)
c.*850T>G (n.*850T>G)
c.942T>G (p.Ala314=)
17g.74919585A>GCA502036479USH1Gc.1251T>C (p.Ala417=)
c.*850T>C (n.*850T>C)
c.942T>C (p.Ala314=)
17g.74919585A>TCA502036480USH1Gc.1251T>A (p.Ala417=)
c.*850T>A (n.*850T>A)
c.942T>A (p.Ala314=)
17g.74919586G>ACA400961362USH1Gc.1250C>T (p.Ala417Val)
c.*849C>T (n.*849C>T)
c.941C>T (p.Ala314Val)
 gnomAD v4
17g.74919586G>CCA8753901USH1Gc.1250C>G (p.Ala417Gly)
c.*849C>G (n.*849C>G)
c.941C>G (p.Ala314Gly)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919586G=CA2275255159USH1Gc.1250C= (p.Ala417=)
c.*849C= (n.*849C=)
c.941C= (p.Ala314=)
17g.74919586G>TCA400961363USH1Gc.1250C>A (p.Ala417Asp)
c.*849C>A (n.*849C>A)
c.941C>A (p.Ala314Asp)
17g.74919587C>ACA400961364USH1Gc.1249G>T (p.Ala417Ser)
c.*848G>T (n.*848G>T)
c.940G>T (p.Ala314Ser)
17g.74919587C>GCA400961365USH1Gc.1249G>C (p.Ala417Pro)
c.*848G>C (n.*848G>C)
c.940G>C (p.Ala314Pro)
17g.74919587C>TCA400961366USH1Gc.1249G>A (p.Ala417Thr)
c.*848G>A (n.*848G>A)
c.940G>A (p.Ala314Thr)
17g.74919588C>ACA400961367USH1Gc.1248G>T (p.Glu416Asp)
c.*847G>T (n.*847G>T)
c.939G>T (p.Glu313Asp)
17g.74919588C>GCA400961368USH1Gc.1248G>C (p.Glu416Asp)
c.*847G>C (n.*847G>C)
c.939G>C (p.Glu313Asp)
17g.74919588C>TCA502036485USH1Gc.1248G>A (p.Glu416=)
c.*847G>A (n.*847G>A)
c.939G>A (p.Glu313=)
 gnomAD v4
17g.74919589T>ACA400961369USH1Gc.1247A>T (p.Glu416Val)
c.*846A>T (n.*846A>T)
c.938A>T (p.Glu313Val)
17g.74919589T>CCA400961370USH1Gc.1247A>G (p.Glu416Gly)
c.*846A>G (n.*846A>G)
c.938A>G (p.Glu313Gly)
17g.74919589T>GCA400961371USH1Gc.1247A>C (p.Glu416Ala)
c.*846A>C (n.*846A>C)
c.938A>C (p.Glu313Ala)
17g.74919590C>ACA400961372USH1Gc.1246G>T (p.Glu416Ter)
c.*845G>T (n.*845G>T)
c.937G>T (p.Glu313Ter)
17g.74919590C=CA2275255160USH1Gc.1246G= (p.Glu416=)
c.*845G= (n.*845G=)
c.937G= (p.Glu313=)
17g.74919590C>GCA400961374USH1Gc.1246G>C (p.Glu416Gln)
c.*845G>C (n.*845G>C)
c.937G>C (p.Glu313Gln)
 dbSNP gnomAD v4
17g.74919590C>TCA400961373USH1Gc.1246G>A (p.Glu416Lys)
c.*845G>A (n.*845G>A)
c.937G>A (p.Glu313Lys)
 ClinVar dbSNP gnomAD v4
17g.74919591G>ACA502036491USH1Gc.1245C>T (p.Leu415=)
c.*844C>T (n.*844C>T)
c.936C>T (p.Leu312=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919591G>CCA502036492USH1Gc.1245C>G (p.Leu415=)
c.*844C>G (n.*844C>G)
c.936C>G (p.Leu312=)
 dbSNP gnomAD v4
17g.74919591G=CA2275255161USH1Gc.1245C= (p.Leu415=)
c.*844C= (n.*844C=)
c.936C= (p.Leu312=)
17g.74919591G>TCA502036493USH1Gc.1245C>A (p.Leu415=)
c.*844C>A (n.*844C>A)
c.936C>A (p.Leu312=)
17g.74919592A>CCA400961375USH1Gc.1244T>G (p.Leu415Arg)
c.*843T>G (n.*843T>G)
c.935T>G (p.Leu312Arg)
17g.74919592A>GCA400961376USH1Gc.1244T>C (p.Leu415Pro)
c.*843T>C (n.*843T>C)
c.935T>C (p.Leu312Pro)
17g.74919592A>TCA400961377USH1Gc.1244T>A (p.Leu415His)
c.*843T>A (n.*843T>A)
c.935T>A (p.Leu312His)
17g.74919593G>ACA400961378USH1Gc.1243C>T (p.Leu415Phe)
c.*842C>T (n.*842C>T)
c.934C>T (p.Leu312Phe)
17g.74919593G>CCA400961379USH1Gc.1243C>G (p.Leu415Val)
c.*842C>G (n.*842C>G)
c.934C>G (p.Leu312Val)
 dbSNP
17g.74919593G=CA2275255162USH1Gc.1243C= (p.Leu415=)
c.*842C= (n.*842C=)
c.934C= (p.Leu312=)
17g.74919593G>TCA8753902USH1Gc.1243C>A (p.Leu415Ile)
c.*842C>A (n.*842C>A)
c.934C>A (p.Leu312Ile)
 dbSNP ExAC gnomAD v2
17g.74919594G>ACA502036497USH1Gc.1242C>T (p.Asp414=)
c.*841C>T (n.*841C>T)
c.933C>T (p.Asp311=)
17g.74919594G>CCA400961380USH1Gc.1242C>G (p.Asp414Glu)
c.*841C>G (n.*841C>G)
c.933C>G (p.Asp311Glu)
17g.74919594G>TCA400961381USH1Gc.1242C>A (p.Asp414Glu)
c.*841C>A (n.*841C>A)
c.933C>A (p.Asp311Glu)
17g.74919595T>ACA400961382USH1Gc.1241A>T (p.Asp414Val)
c.*840A>T (n.*840A>T)
c.932A>T (p.Asp311Val)
17g.74919595T>CCA400961383USH1Gc.1241A>G (p.Asp414Gly)
c.*840A>G (n.*840A>G)
c.932A>G (p.Asp311Gly)
17g.74919595T>GCA400961384USH1Gc.1241A>C (p.Asp414Ala)
c.*840A>C (n.*840A>C)
c.932A>C (p.Asp311Ala)
17g.74919596C>ACA8753903USH1Gc.1240G>T (p.Asp414Tyr)
c.*839G>T (n.*839G>T)
c.931G>T (p.Asp311Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919596C=CA2275255163USH1Gc.1240G= (p.Asp414=)
c.*839G= (n.*839G=)
c.931G= (p.Asp311=)
17g.74919596C>GCA8753904USH1Gc.1240G>C (p.Asp414His)
c.*839G>C (n.*839G>C)
c.931G>C (p.Asp311His)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919596C>TCA400961385USH1Gc.1240G>A (p.Asp414Asn)
c.*839G>A (n.*839G>A)
c.931G>A (p.Asp311Asn)
17g.74919597G>ACA502036501USH1Gc.1239C>T (p.Ile413=)
c.*838C>T (n.*838C>T)
c.930C>T (p.Ile310=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919597G>CCA8753905USH1Gc.1239C>G (p.Ile413Met)
c.*838C>G (n.*838C>G)
c.930C>G (p.Ile310Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919597G=CA2275255164USH1Gc.1239C= (p.Ile413=)
c.*838C= (n.*838C=)
c.930C= (p.Ile310=)
17g.74919597G>TCA502036504USH1Gc.1239C>A (p.Ile413=)
c.*838C>A (n.*838C>A)
c.930C>A (p.Ile310=)
17g.74919598A>CCA400961386USH1Gc.1238T>G (p.Ile413Ser)
c.*837T>G (n.*837T>G)
c.929T>G (p.Ile310Ser)
17g.74919598A>GCA400961388USH1Gc.1238T>C (p.Ile413Thr)
c.*837T>C (n.*837T>C)
c.929T>C (p.Ile310Thr)
17g.74919598A>TCA400961387USH1Gc.1238T>A (p.Ile413Asn)
c.*837T>A (n.*837T>A)
c.929T>A (p.Ile310Asn)
17g.74919599T>ACA400961389USH1Gc.1237A>T (p.Ile413Phe)
c.*836A>T (n.*836A>T)
c.928A>T (p.Ile310Phe)
17g.74919599T>CCA400961391USH1Gc.1237A>G (p.Ile413Val)
c.*836A>G (n.*836A>G)
c.928A>G (p.Ile310Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919599T>GCA400961390USH1Gc.1237A>C (p.Ile413Leu)
c.*836A>C (n.*836A>C)
c.928A>C (p.Ile310Leu)
17g.74919599T=CA2275255165USH1Gc.1237A= (p.Ile413=)
c.*836A= (n.*836A=)
c.928A= (p.Ile310=)
17g.74919602_74919604delCA2576383325USH1Gc.1235_1237del (p.Lys412del)
c.*834_*836del (n.*834_*836del)
c.926_928del (p.Lys309del)
17g.74919601_74919605dupCA2639747074USH1Gc.1233_1237dup (p.Ile413ArgfsTer8)
c.*832_*836dup (n.*832_*836dup)
c.924_928dup (p.Ile310ArgfsTer8)
 gnomAD v4
17g.74919600C>ACA400961392USH1Gc.1236G>T (p.Lys412Asn)
c.*835G>T (n.*835G>T)
c.927G>T (p.Lys309Asn)
 dbSNP gnomAD v3 gnomAD v4
17g.74919600C=CA2275255166USH1Gc.1236G= (p.Lys412=)
c.*835G= (n.*835G=)
c.927G= (p.Lys309=)
17g.74919600C>GCA400961393USH1Gc.1236G>C (p.Lys412Asn)
c.*835G>C (n.*835G>C)
c.927G>C (p.Lys309Asn)
17g.74919600C>TCA502036511USH1Gc.1236G>A (p.Lys412=)
c.*835G>A (n.*835G>A)
c.927G>A (p.Lys309=)
 gnomAD v4
17g.74919601T>ACA400961394USH1Gc.1235A>T (p.Lys412Met)
c.*834A>T (n.*834A>T)
c.926A>T (p.Lys309Met)
17g.74919601T>CCA400961396USH1Gc.1235A>G (p.Lys412Arg)
c.*834A>G (n.*834A>G)
c.926A>G (p.Lys309Arg)
17g.74919601T>GCA400961395USH1Gc.1235A>C (p.Lys412Thr)
c.*834A>C (n.*834A>C)
c.926A>C (p.Lys309Thr)
 ClinVar
17g.74919602T>ACA400961397USH1Gc.1234A>T (p.Lys412Ter)
c.*833A>T (n.*833A>T)
c.925A>T (p.Lys309Ter)
17g.74919602T>CCA400961398USH1Gc.1234A>G (p.Lys412Glu)
c.*833A>G (n.*833A>G)
c.925A>G (p.Lys309Glu)
17g.74919602T>GCA400961399USH1Gc.1234A>C (p.Lys412Gln)
c.*833A>C (n.*833A>C)
c.925A>C (p.Lys309Gln)
17g.74919602_74919605delinsTCTCCA2275255167USH1Gc.1231_1234delinsGAGA (p.Glu411=)
c.*830_*833delinsGAGA (n.*830_*833delinsGAGA)
c.922_925delinsGAGA (p.Glu308=)
17g.74919603C>ACA400961400USH1Gc.1233G>T (p.Glu411Asp)
c.*832G>T (n.*832G>T)
c.924G>T (p.Glu308Asp)
17g.74919603C>GCA400961401USH1Gc.1233G>C (p.Glu411Asp)
c.*832G>C (n.*832G>C)
c.924G>C (p.Glu308Asp)
 gnomAD v4
17g.74919603C>TCA502036516USH1Gc.1233G>A (p.Glu411=)
c.*832G>A (n.*832G>A)
c.924G>A (p.Glu308=)
17g.74919605_74919607delCA8753906USH1Gc.1231_1233del (p.Glu411del)
c.*830_*832del (n.*830_*832del)
c.922_924del (p.Glu308del)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919604T>ACA400961402USH1Gc.1232A>T (p.Glu411Val)
c.*831A>T (n.*831A>T)
c.923A>T (p.Glu308Val)
17g.74919604T>CCA8753907USH1Gc.1232A>G (p.Glu411Gly)
c.*831A>G (n.*831A>G)
c.923A>G (p.Glu308Gly)
 dbSNP ExAC gnomAD v2
17g.74919604T>GCA400961403USH1Gc.1232A>C (p.Glu411Ala)
c.*831A>C (n.*831A>C)
c.923A>C (p.Glu308Ala)
17g.74919604T=CA2275255168USH1Gc.1232A= (p.Glu411=)
c.*831A= (n.*831A=)
c.923A= (p.Glu308=)
17g.74919605C>ACA400961404USH1Gc.1231G>T (p.Glu411Ter)
c.*830G>T (n.*830G>T)
c.922G>T (p.Glu308Ter)
17g.74919605C=CA2275255169USH1Gc.1231G= (p.Glu411=)
c.*830G= (n.*830G=)
c.922G= (p.Glu308=)
17g.74919605C>GCA400961405USH1Gc.1231G>C (p.Glu411Gln)
c.*830G>C (n.*830G>C)
c.922G>C (p.Glu308Gln)
17g.74919605C>TCA400961406USH1Gc.1231G>A (p.Glu411Lys)
c.*830G>A (n.*830G>A)
c.922G>A (p.Glu308Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919606C>ACA400961407USH1Gc.1230G>T (p.Gln410His)
c.*829G>T (n.*829G>T)
c.921G>T (p.Gln307His)
17g.74919606C=CA2275255170USH1Gc.1230G= (p.Gln410=)
c.*829G= (n.*829G=)
c.921G= (p.Gln307=)
17g.74919606C>GCA400961408USH1Gc.1230G>C (p.Gln410His)
c.*829G>C (n.*829G>C)
c.921G>C (p.Gln307His)
17g.74919606C>TCA8753908USH1Gc.1230G>A (p.Gln410=)
c.*829G>A (n.*829G>A)
c.921G>A (p.Gln307=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919607T>ACA400961409USH1Gc.1229A>T (p.Gln410Leu)
c.*828A>T (n.*828A>T)
c.920A>T (p.Gln307Leu)
17g.74919607T>CCA400961410USH1Gc.1229A>G (p.Gln410Arg)
c.*828A>G (n.*828A>G)
c.920A>G (p.Gln307Arg)
 gnomAD v4
17g.74919607T>GCA400961411USH1Gc.1229A>C (p.Gln410Pro)
c.*828A>C (n.*828A>C)
c.920A>C (p.Gln307Pro)
17g.74919608G>ACA400961412USH1Gc.1228C>T (p.Gln410Ter)
c.*827C>T (n.*827C>T)
c.919C>T (p.Gln307Ter)
17g.74919608G>CCA400961413USH1Gc.1228C>G (p.Gln410Glu)
c.*827C>G (n.*827C>G)
c.919C>G (p.Gln307Glu)
17g.74919608G>TCA400961414USH1Gc.1228C>A (p.Gln410Lys)
c.*827C>A (n.*827C>A)
c.919C>A (p.Gln307Lys)
17g.74919609C>ACA502036529USH1Gc.1227G>T (p.Arg409=)
c.*826G>T (n.*826G>T)
c.918G>T (p.Arg306=)
17g.74919609C=CA2275255171USH1Gc.1227G= (p.Arg409=)
c.*826G= (n.*826G=)
c.918G= (p.Arg306=)
17g.74919609C>GCA502036530USH1Gc.1227G>C (p.Arg409=)
c.*826G>C (n.*826G>C)
c.918G>C (p.Arg306=)
17g.74919609C>TCA502036531USH1Gc.1227G>A (p.Arg409=)
c.*826G>A (n.*826G>A)
c.918G>A (p.Arg306=)
 dbSNP gnomAD v2
17g.74919610C>ACA400961415USH1Gc.1226G>T (p.Arg409Leu)
c.*825G>T (n.*825G>T)
c.917G>T (p.Arg306Leu)
 dbSNP
17g.74919610C=CA2275255172USH1Gc.1226G= (p.Arg409=)
c.*825G= (n.*825G=)
c.917G= (p.Arg306=)
17g.74919610C>GCA400961416USH1Gc.1226G>C (p.Arg409Pro)
c.*825G>C (n.*825G>C)
c.917G>C (p.Arg306Pro)
 gnomAD v4
17g.74919610C>TCA400961417USH1Gc.1226G>A (p.Arg409Gln)
c.*825G>A (n.*825G>A)
c.917G>A (p.Arg306Gln)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919611G>ACA8753910USH1Gc.1225C>T (p.Arg409Trp)
c.*824C>T (n.*824C>T)
c.916C>T (p.Arg306Trp)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919611G>CCA8753909USH1Gc.1225C>G (p.Arg409Gly)
c.*824C>G (n.*824C>G)
c.916C>G (p.Arg306Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919611G=CA2275255173USH1Gc.1225C= (p.Arg409=)
c.*824C= (n.*824C=)
c.916C= (p.Arg306=)
17g.74919611G>TCA502036538USH1Gc.1225C>A (p.Arg409=)
c.*824C>A (n.*824C>A)
c.916C>A (p.Arg306=)
17g.74919612C>ACA502036539USH1Gc.1224G>T (p.Leu408=)
c.*823G>T (n.*823G>T)
c.915G>T (p.Leu305=)
17g.74919612C>GCA502036540USH1Gc.1224G>C (p.Leu408=)
c.*823G>C (n.*823G>C)
c.915G>C (p.Leu305=)
17g.74919612C>TCA502036541USH1Gc.1224G>A (p.Leu408=)
c.*823G>A (n.*823G>A)
c.915G>A (p.Leu305=)
17g.74919613A>CCA400961418USH1Gc.1223T>G (p.Leu408Arg)
c.*822T>G (n.*822T>G)
c.914T>G (p.Leu305Arg)
17g.74919613A>GCA400961419USH1Gc.1223T>C (p.Leu408Pro)
c.*822T>C (n.*822T>C)
c.914T>C (p.Leu305Pro)
17g.74919613A>TCA400961420USH1Gc.1223T>A (p.Leu408Gln)
c.*822T>A (n.*822T>A)
c.914T>A (p.Leu305Gln)
17g.74919614G>ACA502036545USH1Gc.1222C>T (p.Leu408=)
c.*821C>T (n.*821C>T)
c.913C>T (p.Leu305=)
17g.74919614G>CCA400961421USH1Gc.1222C>G (p.Leu408Val)
c.*821C>G (n.*821C>G)
c.913C>G (p.Leu305Val)
17g.74919614G>TCA400961422USH1Gc.1222C>A (p.Leu408Met)
c.*821C>A (n.*821C>A)
c.913C>A (p.Leu305Met)
17g.74919615G>ACA502036547USH1Gc.1221C>T (p.Leu407=)
c.*820C>T (n.*820C>T)
c.912C>T (p.Leu304=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919615G>CCA8753911USH1Gc.1221C>G (p.Leu407=)
c.*820C>G (n.*820C>G)
c.912C>G (p.Leu304=)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17g.74919615G=CA2275255174USH1Gc.1221C= (p.Leu407=)
c.*820C= (n.*820C=)
c.912C= (p.Leu304=)
17g.74919615G>TCA502036548USH1Gc.1221C>A (p.Leu407=)
c.*820C>A (n.*820C>A)
c.912C>A (p.Leu304=)
 gnomAD v4
17g.74919616A=CA2275255175USH1Gc.1220T= (p.Leu407=)
c.*819T= (n.*819T=)
c.911T= (p.Leu304=)
17g.74919616A>CCA400961423USH1Gc.1220T>G (p.Leu407Arg)
c.*819T>G (n.*819T>G)
c.911T>G (p.Leu304Arg)
 ClinVar dbSNP
17g.74919616A>GCA400961424USH1Gc.1220T>C (p.Leu407Pro)
c.*819T>C (n.*819T>C)
c.911T>C (p.Leu304Pro)
17g.74919616A>TCA400961425USH1Gc.1220T>A (p.Leu407His)
c.*819T>A (n.*819T>A)
c.911T>A (p.Leu304His)
17g.74919617G>ACA400961426USH1Gc.1219C>T (p.Leu407Phe)
c.*818C>T (n.*818C>T)
c.910C>T (p.Leu304Phe)
 ClinVar dbSNP
17g.74919617G>CCA400961427USH1Gc.1219C>G (p.Leu407Val)
c.*818C>G (n.*818C>G)
c.910C>G (p.Leu304Val)
 dbSNP gnomAD v4
17g.74919617G=CA2275255176USH1Gc.1219C= (p.Leu407=)
c.*818C= (n.*818C=)
c.910C= (p.Leu304=)
17g.74919617G>TCA400961428USH1Gc.1219C>A (p.Leu407Ile)
c.*818C>A (n.*818C>A)
c.910C>A (p.Leu304Ile)
17g.74919618G>ACA502036553USH1Gc.1218C>T (p.Ala406=)
c.*817C>T (n.*817C>T)
c.909C>T (p.Ala303=)
 ClinVar gnomAD v4
17g.74919618G>CCA502036555USH1Gc.1218C>G (p.Ala406=)
c.*817C>G (n.*817C>G)
c.909C>G (p.Ala303=)
17g.74919618G>TCA502036557USH1Gc.1218C>A (p.Ala406=)
c.*817C>A (n.*817C>A)
c.909C>A (p.Ala303=)
 gnomAD v4
17g.74919619G>ACA400961431USH1Gc.1217C>T (p.Ala406Val)
c.*816C>T (n.*816C>T)
c.908C>T (p.Ala303Val)
17g.74919619G>CCA400961429USH1Gc.1217C>G (p.Ala406Gly)
c.*816C>G (n.*816C>G)
c.908C>G (p.Ala303Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919619G=CA2275255177USH1Gc.1217C= (p.Ala406=)
c.*816C= (n.*816C=)
c.908C= (p.Ala303=)
17g.74919619G>TCA400961430USH1Gc.1217C>A (p.Ala406Asp)
c.*816C>A (n.*816C>A)
c.908C>A (p.Ala303Asp)
17g.74919620C>ACA400961432USH1Gc.1216G>T (p.Ala406Ser)
c.*815G>T (n.*815G>T)
c.907G>T (p.Ala303Ser)
17g.74919620C=CA2275255178USH1Gc.1216G= (p.Ala406=)
c.*815G= (n.*815G=)
c.907G= (p.Ala303=)
17g.74919620C>GCA400961433USH1Gc.1216G>C (p.Ala406Pro)
c.*815G>C (n.*815G>C)
c.907G>C (p.Ala303Pro)
17g.74919620C>TCA400961434USH1Gc.1216G>A (p.Ala406Thr)
c.*815G>A (n.*815G>A)
c.907G>A (p.Ala303Thr)
 dbSNP
17g.74919621G>ACA8753912USH1Gc.1215C>T (p.Ala405=)
c.*814C>T (n.*814C>T)
c.906C>T (p.Ala302=)
 dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919621G>CCA502036564USH1Gc.1215C>G (p.Ala405=)
c.*814C>G (n.*814C>G)
c.906C>G (p.Ala302=)
17g.74919621G=CA2275255179USH1Gc.1215C= (p.Ala405=)
c.*814C= (n.*814C=)
c.906C= (p.Ala302=)
17g.74919621G>TCA502036565USH1Gc.1215C>A (p.Ala405=)
c.*814C>A (n.*814C>A)
c.906C>A (p.Ala302=)
17g.74919622G>ACA293983510USH1Gc.1214C>T (p.Ala405Val)
c.*813C>T (n.*813C>T)
c.905C>T (p.Ala302Val)
 dbSNP
17g.74919622G>CCA400961435USH1Gc.1214C>G (p.Ala405Gly)
c.*813C>G (n.*813C>G)
c.905C>G (p.Ala302Gly)
17g.74919622G=CA2275255180USH1Gc.1214C= (p.Ala405=)
c.*813C= (n.*813C=)
c.905C= (p.Ala302=)
17g.74919622G>TCA400961436USH1Gc.1214C>A (p.Ala405Asp)
c.*813C>A (n.*813C>A)
c.905C>A (p.Ala302Asp)
17g.74919623C>ACA400961437USH1Gc.1213G>T (p.Ala405Ser)
c.*812G>T (n.*812G>T)
c.904G>T (p.Ala302Ser)
17g.74919623C>GCA400961438USH1Gc.1213G>C (p.Ala405Pro)
c.*812G>C (n.*812G>C)
c.904G>C (p.Ala302Pro)
17g.74919623C>TCA400961439USH1Gc.1213G>A (p.Ala405Thr)
c.*812G>A (n.*812G>A)
c.904G>A (p.Ala302Thr)
17g.74919624A>CCA400961440USH1Gc.1212T>G (p.Phe404Leu)
c.*811T>G (n.*811T>G)
c.903T>G (p.Phe301Leu)
17g.74919624A>GCA502036572USH1Gc.1212T>C (p.Phe404=)
c.*811T>C (n.*811T>C)
c.903T>C (p.Phe301=)
 gnomAD v4
17g.74919624A>TCA400961441USH1Gc.1212T>A (p.Phe404Leu)
c.*811T>A (n.*811T>A)
c.903T>A (p.Phe301Leu)
17g.74919625A>CCA400961443USH1Gc.1211T>G (p.Phe404Cys)
c.*810T>G (n.*810T>G)
c.902T>G (p.Phe301Cys)
17g.74919625A>GCA400961444USH1Gc.1211T>C (p.Phe404Ser)
c.*810T>C (n.*810T>C)
c.902T>C (p.Phe301Ser)
17g.74919625A>TCA400961442USH1Gc.1211T>A (p.Phe404Tyr)
c.*810T>A (n.*810T>A)
c.902T>A (p.Phe301Tyr)
17g.74919626A>CCA400961447USH1Gc.1210T>G (p.Phe404Val)
c.*809T>G (n.*809T>G)
c.901T>G (p.Phe301Val)
17g.74919626A>GCA400961445USH1Gc.1210T>C (p.Phe404Leu)
c.*809T>C (n.*809T>C)
c.901T>C (p.Phe301Leu)
17g.74919626A>TCA400961446USH1Gc.1210T>A (p.Phe404Ile)
c.*809T>A (n.*809T>A)
c.901T>A (p.Phe301Ile)
17g.74919627G>ACA502036577USH1Gc.1209C>T (p.Asp403=)
c.*808C>T (n.*808C>T)
c.900C>T (p.Asp300=)
17g.74919627G>CCA400961448USH1Gc.1209C>G (p.Asp403Glu)
c.*808C>G (n.*808C>G)
c.900C>G (p.Asp300Glu)
17g.74919627G>TCA400961449USH1Gc.1209C>A (p.Asp403Glu)
c.*808C>A (n.*808C>A)
c.900C>A (p.Asp300Glu)
17g.74919628T>ACA400961450USH1Gc.1208A>T (p.Asp403Val)
c.*807A>T (n.*807A>T)
c.899A>T (p.Asp300Val)
17g.74919628T>CCA293983513USH1Gc.1208A>G (p.Asp403Gly)
c.*807A>G (n.*807A>G)
c.899A>G (p.Asp300Gly)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17g.74919628T>GCA400961451USH1Gc.1208A>C (p.Asp403Ala)
c.*807A>C (n.*807A>C)
c.899A>C (p.Asp300Ala)
17g.74919628T=CA2275255181USH1Gc.1208A= (p.Asp403=)
c.*807A= (n.*807A=)
c.899A= (p.Asp300=)
17g.74919629C>ACA400961452USH1Gc.1207G>T (p.Asp403Tyr)
c.*806G>T (n.*806G>T)
c.898G>T (p.Asp300Tyr)
17g.74919629C=CA2275255182USH1Gc.1207G= (p.Asp403=)
c.*806G= (n.*806G=)
c.898G= (p.Asp300=)
17g.74919629C>GCA400961453USH1Gc.1207G>C (p.Asp403His)
c.*806G>C (n.*806G>C)
c.898G>C (p.Asp300His)
17g.74919629C>TCA8753913USH1Gc.1207G>A (p.Asp403Asn)
c.*806G>A (n.*806G>A)
c.898G>A (p.Asp300Asn)
 dbSNP ExAC gnomAD v2
17g.74919630C>ACA400961454USH1Gc.1206G>T (p.Glu402Asp)
c.*805G>T (n.*805G>T)
c.897G>T (p.Glu299Asp)
17g.74919630C=CA2275255183USH1Gc.1206G= (p.Glu402=)
c.*805G= (n.*805G=)
c.897G= (p.Glu299=)
17g.74919630C>GCA400961455USH1Gc.1206G>C (p.Glu402Asp)
c.*805G>C (n.*805G>C)
c.897G>C (p.Glu299Asp)
17g.74919630C>TCA8753914USH1Gc.1206G>A (p.Glu402=)
c.*805G>A (n.*805G>A)
c.897G>A (p.Glu299=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919631T>ACA400961458USH1Gc.1205A>T (p.Glu402Val)
c.*804A>T (n.*804A>T)
c.896A>T (p.Glu299Val)
17g.74919631T>CCA400961456USH1Gc.1205A>G (p.Glu402Gly)
c.*804A>G (n.*804A>G)
c.896A>G (p.Glu299Gly)
17g.74919631T>GCA400961457USH1Gc.1205A>C (p.Glu402Ala)
c.*804A>C (n.*804A>C)
c.896A>C (p.Glu299Ala)
17g.74919632C>ACA400961459USH1Gc.1204G>T (p.Glu402Ter)
c.*803G>T (n.*803G>T)
c.895G>T (p.Glu299Ter)
 dbSNP gnomAD v3 gnomAD v4
17g.74919632C=CA2275255184USH1Gc.1204G= (p.Glu402=)
c.*803G= (n.*803G=)
c.895G= (p.Glu299=)
17g.74919632C>GCA400961460USH1Gc.1204G>C (p.Glu402Gln)
c.*803G>C (n.*803G>C)
c.895G>C (p.Glu299Gln)
17g.74919632C>TCA400961461USH1Gc.1204G>A (p.Glu402Lys)
c.*803G>A (n.*803G>A)
c.895G>A (p.Glu299Lys)
 COSMIC
17g.74919633C>ACA400961462USH1Gc.1203G>T (p.Met401Ile)
c.*802G>T (n.*802G>T)
c.894G>T (p.Met298Ile)
17g.74919633C=CA2275255185USH1Gc.1203G= (p.Met401=)
c.*802G= (n.*802G=)
c.894G= (p.Met298=)
17g.74919633C>GCA400961463USH1Gc.1203G>C (p.Met401Ile)
c.*802G>C (n.*802G>C)
c.894G>C (p.Met298Ile)
17g.74919633C>TCA8753915USH1Gc.1203G>A (p.Met401Ile)
c.*802G>A (n.*802G>A)
c.894G>A (p.Met298Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919634A=CA2275255186USH1Gc.1202T= (p.Met401=)
c.*801T= (n.*801T=)
c.893T= (p.Met298=)
17g.74919634A>CCA400961464USH1Gc.1202T>G (p.Met401Arg)
c.*801T>G (n.*801T>G)
c.893T>G (p.Met298Arg)
17g.74919634A>GCA8753916USH1Gc.1202T>C (p.Met401Thr)
c.*801T>C (n.*801T>C)
c.893T>C (p.Met298Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17g.74919634A>TCA400961465USH1Gc.1202T>A (p.Met401Lys)
c.*801T>A (n.*801T>A)
c.893T>A (p.Met298Lys)
17g.74919635T>ACA400961466USH1Gc.1201A>T (p.Met401Leu)
c.*800A>T (n.*800A>T)
c.892A>T (p.Met298Leu)
 gnomAD v4
17g.74919635T>CCA293983547USH1Gc.1201A>G (p.Met401Val)
c.*800A>G (n.*800A>G)
c.892A>G (p.Met298Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
17g.74919635T>GCA400961467USH1Gc.1201A>C (p.Met401Leu)
c.*800A>C (n.*800A>C)
c.892A>C (p.Met298Leu)
 gnomAD v4
17g.74919635T=CA2275255187USH1Gc.1201A= (p.Met401=)
c.*800A= (n.*800A=)
c.892A= (p.Met298=)
17g.74919636G>ACA502036593USH1Gc.1200C>T (p.His400=)
c.*799C>T (n.*799C>T)
c.891C>T (p.His297=)
 ClinVar dbSNP
17g.74919636G>CCA400961468USH1Gc.1200C>G (p.His400Gln)
c.*799C>G (n.*799C>G)
c.891C>G (p.His297Gln)
17g.74919636G>TCA400961469USH1Gc.1200C>A (p.His400Gln)
c.*799C>A (n.*799C>A)
c.891C>A (p.His297Gln)
17g.74919637T>ACA400961470USH1Gc.1199A>T (p.His400Leu)
c.*798A>T (n.*798A>T)
c.890A>T (p.His297Leu)
17g.74919637T>CCA8753917USH1Gc.1199A>G (p.His400Arg)
c.*798A>G (n.*798A>G)
c.890A>G (p.His297Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17g.74919637T>GCA400961471USH1Gc.1199A>C (p.His400Pro)
c.*798A>C (n.*798A>C)
c.890A>C (p.His297Pro)
17g.74919637T=CA2275255188USH1Gc.1199A= (p.His400=)
c.*798A= (n.*798A=)
c.890A= (p.His297=)
17g.74919638G>ACA400961472USH1Gc.1198C>T (p.His400Tyr)
c.*797C>T (n.*797C>T)
c.889C>T (p.His297Tyr)
 gnomAD v4
17g.74919638G>CCA400961473USH1Gc.1198C>G (p.His400Asp)
c.*797C>G (n.*797C>G)
c.889C>G (p.His297Asp)
17g.74919638G>TCA400961474USH1Gc.1198C>A (p.His400Asn)
c.*797C>A (n.*797C>A)
c.889C>A (p.His297Asn)
17g.74919639C>ACA502036596USH1Gc.1197G>T (p.Leu399=)
c.*796G>T (n.*796G>T)
c.888G>T (p.Leu296=)
17g.74919639C>GCA502036597USH1Gc.1197G>C (p.Leu399=)
c.*796G>C (n.*796G>C)
c.888G>C (p.Leu296=)
17g.74919639C>TCA502036598USH1Gc.1197G>A (p.Leu399=)
c.*796G>A (n.*796G>A)
c.888G>A (p.Leu296=)
17g.74919639_74919641delinsCAGCA2275255189USH1Gc.1195_1197delinsCTG (p.Leu399=)
c.*794_*796delinsCTG (n.*794_*796delinsCTG)
c.886_888delinsCTG (p.Leu296=)
17g.74919640A>CCA400961477USH1Gc.1196T>G (p.Leu399Arg)
c.*795T>G (n.*795T>G)
c.887T>G (p.Leu296Arg)
17g.74919640A>GCA400961475USH1Gc.1196T>C (p.Leu399Pro)
c.*795T>C (n.*795T>C)
c.887T>C (p.Leu296Pro)
 dbSNP
17g.74919640A>TCA400961476USH1Gc.1196T>A (p.Leu399Gln)
c.*795T>A (n.*795T>A)
c.887T>A (p.Leu296Gln)
17g.74919644_74919645delCA986277536USH1Gc.1195_1196del (p.Leu399AlafsTer24)
c.*794_*795del (n.*794_*795del)
c.886_887del (p.Leu296AlafsTer24)
 ClinVar dbSNP gnomAD v3 gnomAD v4
17g.74919641G>ACA502036600USH1Gc.1195C>T (p.Leu399=)
c.*794C>T (n.*794C>T)
c.886C>T (p.Leu296=)
 gnomAD v4
17g.74919641G>CCA400961478USH1Gc.1195C>G (p.Leu399Val)
c.*794C>G (n.*794C>G)
c.886C>G (p.Leu296Val)
17g.74919641G>TCA400961479USH1Gc.1195C>A (p.Leu399Met)
c.*794C>A (n.*794C>A)
c.886C>A (p.Leu296Met)
17g.74919642A>CCA502036601USH1Gc.1194T>G (p.Ser398=)
c.*793T>G (n.*793T>G)
c.885T>G (p.Ser295=)
17g.74919642A>GCA502036602USH1Gc.1194T>C (p.Ser398=)
c.*793T>C (n.*793T>C)
c.885T>C (p.Ser295=)
17g.74919642A>TCA502036604USH1Gc.1194T>A (p.Ser398=)
c.*793T>A (n.*793T>A)
c.885T>A (p.Ser295=)
17g.74919643G>ACA400961480USH1Gc.1193C>T (p.Ser398Phe)
c.*792C>T (n.*792C>T)
c.884C>T (p.Ser295Phe)
 gnomAD v4
17g.74919643G>CCA400961481USH1Gc.1193C>G (p.Ser398Cys)
c.*792C>G (n.*792C>G)
c.884C>G (p.Ser295Cys)
 gnomAD v4
17g.74919643G>TCA400961482USH1Gc.1193C>A (p.Ser398Tyr)
c.*792C>A (n.*792C>A)
c.884C>A (p.Ser295Tyr)
17g.74919644A>CCA400961483USH1Gc.1192T>G (p.Ser398Ala)
c.*791T>G (n.*791T>G)
c.883T>G (p.Ser295Ala)
17g.74919644A>GCA400961485USH1Gc.1192T>C (p.Ser398Pro)
c.*791T>C (n.*791T>C)
c.883T>C (p.Ser295Pro)
17g.74919644A>TCA400961484USH1Gc.1192T>A (p.Ser398Thr)
c.*791T>A (n.*791T>A)
c.883T>A (p.Ser295Thr)
17g.74919645G>ACA293983551USH1Gc.1191C>T (p.Ala397=)
c.*790C>T (n.*790C>T)
c.882C>T (p.Ala294=)
 dbSNP gnomAD v3 gnomAD v4
17g.74919645G>CCA502036609USH1Gc.1191C>G (p.Ala397=)
c.*790C>G (n.*790C>G)
c.882C>G (p.Ala294=)
17g.74919645G=CA2275255190USH1Gc.1191C= (p.Ala397=)
c.*790C= (n.*790C=)
c.882C= (p.Ala294=)
17g.74919645G>TCA502036608USH1Gc.1191C>A (p.Ala397=)
c.*790C>A (n.*790C>A)
c.882C>A (p.Ala294=)
17g.74919646G>ACA400961486USH1Gc.1190C>T (p.Ala397Val)
c.*789C>T (n.*789C>T)
c.881C>T (p.Ala294Val)
 dbSNP
17g.74919646G>CCA400961487USH1Gc.1190C>G (p.Ala397Gly)
c.*789C>G (n.*789C>G)
c.881C>G (p.Ala294Gly)
17g.74919646G=CA2275255191USH1Gc.1190C= (p.Ala397=)
c.*789C= (n.*789C=)
c.881C= (p.Ala294=)
17g.74919646G>TCA400961488USH1Gc.1190C>A (p.Ala397Asp)
c.*789C>A (n.*789C>A)
c.881C>A (p.Ala294Asp)
17g.74919646_74919648delCA1139655064USH1Gc.1188_1190del (p.Ala397del)
c.*787_*789del (n.*787_*789del)
c.879_881del (p.Ala294del)
17g.74919647C>ACA400961489USH1Gc.1189G>T (p.Ala397Ser)
c.*788G>T (n.*788G>T)
c.880G>T (p.Ala294Ser)
17g.74919647C>GCA400961490USH1Gc.1189G>C (p.Ala397Pro)
c.*788G>C (n.*788G>C)
c.880G>C (p.Ala294Pro)
17g.74919647C>TCA400961491USH1Gc.1189G>A (p.Ala397Thr)
c.*788G>A (n.*788G>A)
c.880G>A (p.Ala294Thr)

Number of alleles fetched