Chr Mutation (hg38) CAid Gene Transcript Linkouts
9g.124500387A>CCA467208397NR5A1c.573T>G (p.Arg191=)
c.40-115T>G (n.40-115T>G)
c.312T>G (p.Arg104=)
9g.124500387A>GCA467208398NR5A1c.573T>C (p.Arg191=)
c.40-115T>C (n.40-115T>C)
c.312T>C (p.Arg104=)
 gnomAD v4
9g.124500387A>TCA467208399NR5A1c.573T>A (p.Arg191=)
c.40-115T>A (n.40-115T>A)
c.312T>A (p.Arg104=)
9g.124500388delCA2499219608NR5A1c.572del (p.Arg191LeufsTer?)
c.40-116del (n.40-116del)
c.311del (p.Arg104LeufsTer?)
 ClinVar dbSNP
9g.124500388C>ACA374886738NR5A1c.572G>T (p.Arg191Leu)
c.40-116G>T (n.40-116G>T)
c.311G>T (p.Arg104Leu)
9g.124500388C=CA1878468786NR5A1c.572G= (p.Arg191=)
c.40-116G= (n.40-116G=)
c.311G= (p.Arg104=)
9g.124500388C>GCA374886739NR5A1c.572G>C (p.Arg191Pro)
c.40-116G>C (n.40-116G>C)
c.311G>C (p.Arg104Pro)
9g.124500388C>TCA374886740NR5A1c.572G>A (p.Arg191His)
c.40-116G>A (n.40-116G>A)
c.311G>A (p.Arg104His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500389G>ACA374886741NR5A1c.571C>T (p.Arg191Cys)
c.40-117C>T (n.40-117C>T)
c.310C>T (p.Arg104Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500389G>CCA374886742NR5A1c.571C>G (p.Arg191Gly)
c.40-117C>G (n.40-117C>G)
c.310C>G (p.Arg104Gly)
9g.124500389G=CA1878468791NR5A1c.571C= (p.Arg191=)
c.40-117C= (n.40-117C=)
c.310C= (p.Arg104=)
9g.124500389G>TCA374886744NR5A1c.571C>A (p.Arg191Ser)
c.40-117C>A (n.40-117C>A)
c.310C>A (p.Arg104Ser)
 gnomAD v4 COSMIC
9g.124500390G>ACA467208402NR5A1c.570C>T (p.Gly190=)
c.40-118C>T (n.40-118C>T)
c.309C>T (p.Gly103=)
 gnomAD v4
9g.124500390G>CCA467208404NR5A1c.570C>G (p.Gly190=)
c.40-118C>G (n.40-118C>G)
c.309C>G (p.Gly103=)
9g.124500390G>TCA467208405NR5A1c.570C>A (p.Gly190=)
c.40-118C>A (n.40-118C>A)
c.309C>A (p.Gly103=)
 gnomAD v4
9g.124500391C>ACA374886747NR5A1c.569G>T (p.Gly190Val)
c.40-119G>T (n.40-119G>T)
c.308G>T (p.Gly103Val)
 gnomAD v4
9g.124500391C>GCA374886749NR5A1c.569G>C (p.Gly190Ala)
c.40-119G>C (n.40-119G>C)
c.308G>C (p.Gly103Ala)
9g.124500391C>TCA374886753NR5A1c.569G>A (p.Gly190Asp)
c.40-119G>A (n.40-119G>A)
c.308G>A (p.Gly103Asp)
 gnomAD v4
9g.124500392C>ACA374886760NR5A1c.568G>T (p.Gly190Cys)
c.40-120G>T (n.40-120G>T)
c.307G>T (p.Gly103Cys)
9g.124500392C>GCA374886756NR5A1c.568G>C (p.Gly190Arg)
c.40-120G>C (n.40-120G>C)
c.307G>C (p.Gly103Arg)
9g.124500392C>TCA374886757NR5A1c.568G>A (p.Gly190Ser)
c.40-120G>A (n.40-120G>A)
c.307G>A (p.Gly103Ser)
9g.124500393A>CCA467208406NR5A1c.567T>G (p.Pro189=)
c.40-121T>G (n.40-121T>G)
c.306T>G (p.Pro102=)
9g.124500393A>GCA467208408NR5A1c.567T>C (p.Pro189=)
c.40-121T>C (n.40-121T>C)
c.306T>C (p.Pro102=)
9g.124500393A>TCA467208409NR5A1c.567T>A (p.Pro189=)
c.40-121T>A (n.40-121T>A)
c.306T>A (p.Pro102=)
9g.124500394G>ACA374886762NR5A1c.566C>T (p.Pro189Leu)
c.40-122C>T (n.40-122C>T)
c.305C>T (p.Pro102Leu)
9g.124500394G>CCA374886763NR5A1c.566C>G (p.Pro189Arg)
c.40-122C>G (n.40-122C>G)
c.305C>G (p.Pro102Arg)
 gnomAD v4
9g.124500394G>TCA374886765NR5A1c.566C>A (p.Pro189His)
c.40-122C>A (n.40-122C>A)
c.305C>A (p.Pro102His)
9g.124500395G>ACA374886769NR5A1c.565C>T (p.Pro189Ser)
c.40-123C>T (n.40-123C>T)
c.304C>T (p.Pro102Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500395G>CCA374886771NR5A1c.565C>G (p.Pro189Ala)
c.40-123C>G (n.40-123C>G)
c.304C>G (p.Pro102Ala)
 dbSNP gnomAD v3 gnomAD v4
9g.124500395G=CA1878468796NR5A1c.565C= (p.Pro189=)
c.40-123C= (n.40-123C=)
c.304C= (p.Pro102=)
9g.124500395G>TCA374886773NR5A1c.565C>A (p.Pro189Thr)
c.40-123C>A (n.40-123C>A)
c.304C>A (p.Pro102Thr)
 ClinVar dbSNP
9g.124500396A>CCA374886776NR5A1c.564T>G (p.Phe188Leu)
c.40-124T>G (n.40-124T>G)
c.303T>G (p.Phe101Leu)
9g.124500396A>GCA467208411NR5A1c.564T>C (p.Phe188=)
c.40-124T>C (n.40-124T>C)
c.303T>C (p.Phe101=)
9g.124500396A>TCA374886778NR5A1c.564T>A (p.Phe188Leu)
c.40-124T>A (n.40-124T>A)
c.303T>A (p.Phe101Leu)
9g.124500397A>CCA374886781NR5A1c.563T>G (p.Phe188Cys)
c.40-125T>G (n.40-125T>G)
c.302T>G (p.Phe101Cys)
9g.124500397A>GCA374886783NR5A1c.563T>C (p.Phe188Ser)
c.40-125T>C (n.40-125T>C)
c.302T>C (p.Phe101Ser)
9g.124500397A>TCA374886785NR5A1c.563T>A (p.Phe188Tyr)
c.40-125T>A (n.40-125T>A)
c.302T>A (p.Phe101Tyr)
9g.124500398A>CCA374886793NR5A1c.562T>G (p.Phe188Val)
c.40-126T>G (n.40-126T>G)
c.301T>G (p.Phe101Val)
9g.124500398A>GCA374886790NR5A1c.562T>C (p.Phe188Leu)
c.40-126T>C (n.40-126T>C)
c.301T>C (p.Phe101Leu)
9g.124500398A>TCA374886788NR5A1c.562T>A (p.Phe188Ile)
c.40-126T>A (n.40-126T>A)
c.301T>A (p.Phe101Ile)
9g.124500399G>ACA467208414NR5A1c.561C>T (p.Ala187=)
c.40-127C>T (n.40-127C>T)
c.300C>T (p.Ala100=)
9g.124500399G>CCA467208415NR5A1c.561C>G (p.Ala187=)
c.40-127C>G (n.40-127C>G)
c.300C>G (p.Ala100=)
 gnomAD v4
9g.124500399G>TCA467208416NR5A1c.561C>A (p.Ala187=)
c.40-127C>A (n.40-127C>A)
c.300C>A (p.Ala100=)
 gnomAD v4
9g.124500400G>ACA374886796NR5A1c.560C>T (p.Ala187Val)
c.40-128C>T (n.40-128C>T)
c.299C>T (p.Ala100Val)
 gnomAD v4
9g.124500400G>CCA374886798NR5A1c.560C>G (p.Ala187Gly)
c.40-128C>G (n.40-128C>G)
c.299C>G (p.Ala100Gly)
 gnomAD v4
9g.124500400G>TCA374886801NR5A1c.560C>A (p.Ala187Asp)
c.40-128C>A (n.40-128C>A)
c.299C>A (p.Ala100Asp)
9g.124500401delCA2499219609NR5A1c.559del (p.Ala187ProfsTer?)
c.40-129del (n.40-129del)
c.298del (p.Ala100ProfsTer?)
 ClinVar dbSNP
9g.124500401C>ACA374886804NR5A1c.559G>T (p.Ala187Ser)
c.40-129G>T (n.40-129G>T)
c.298G>T (p.Ala100Ser)
 gnomAD v4
9g.124500401C>GCA374886806NR5A1c.559G>C (p.Ala187Pro)
c.40-129G>C (n.40-129G>C)
c.298G>C (p.Ala100Pro)
9g.124500401C>TCA374886808NR5A1c.559G>A (p.Ala187Thr)
c.40-129G>A (n.40-129G>A)
c.298G>A (p.Ala100Thr)
 gnomAD v4
9g.124500402A>CCA467208418NR5A1c.558T>G (p.Pro186=)
c.40-130T>G (n.40-130T>G)
c.297T>G (p.Pro99=)
9g.124500402A>GCA467208420NR5A1c.558T>C (p.Pro186=)
c.40-130T>C (n.40-130T>C)
c.297T>C (p.Pro99=)
9g.124500402A>TCA467208419NR5A1c.558T>A (p.Pro186=)
c.40-130T>A (n.40-130T>A)
c.297T>A (p.Pro99=)
 gnomAD v4
9g.124500403G>ACA374886815NR5A1c.557C>T (p.Pro186Leu)
c.40-131C>T (n.40-131C>T)
c.296C>T (p.Pro99Leu)
 dbSNP gnomAD v2
9g.124500403G>CCA374886811NR5A1c.557C>G (p.Pro186Arg)
c.40-131C>G (n.40-131C>G)
c.296C>G (p.Pro99Arg)
9g.124500403G=CA1878468799NR5A1c.557C= (p.Pro186=)
c.40-131C= (n.40-131C=)
c.296C= (p.Pro99=)
9g.124500403G>TCA374886814NR5A1c.557C>A (p.Pro186His)
c.40-131C>A (n.40-131C>A)
c.296C>A (p.Pro99His)
 dbSNP gnomAD v4
9g.124500404G>ACA374886816NR5A1c.556C>T (p.Pro186Ser)
c.40-132C>T (n.40-132C>T)
c.295C>T (p.Pro99Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500404G>CCA374886819NR5A1c.556C>G (p.Pro186Ala)
c.40-132C>G (n.40-132C>G)
c.295C>G (p.Pro99Ala)
9g.124500404G=CA1878468802NR5A1c.556C= (p.Pro186=)
c.40-132C= (n.40-132C=)
c.295C= (p.Pro99=)
9g.124500404G>TCA374886821NR5A1c.556C>A (p.Pro186Thr)
c.40-132C>A (n.40-132C>A)
c.295C>A (p.Pro99Thr)
 gnomAD v4
9g.124500405G>ACA467208422NR5A1c.555C>T (p.Tyr185=)
c.40-133C>T (n.40-133C>T)
c.294C>T (p.Tyr98=)
9g.124500405G>CCA374886824NR5A1c.555C>G (p.Tyr185Ter)
c.40-133C>G (n.40-133C>G)
c.294C>G (p.Tyr98Ter)
9g.124500405G>TCA374886826NR5A1c.555C>A (p.Tyr185Ter)
c.40-133C>A (n.40-133C>A)
c.294C>A (p.Tyr98Ter)
9g.124500406T>ACA374886829NR5A1c.554A>T (p.Tyr185Phe)
c.40-134A>T (n.40-134A>T)
c.293A>T (p.Tyr98Phe)
9g.124500406T>CCA374886834NR5A1c.554A>G (p.Tyr185Cys)
c.40-134A>G (n.40-134A>G)
c.293A>G (p.Tyr98Cys)
9g.124500406T>GCA374886831NR5A1c.554A>C (p.Tyr185Ser)
c.40-134A>C (n.40-134A>C)
c.293A>C (p.Tyr98Ser)
9g.124500407A=CA1878468811NR5A1c.553T= (p.Tyr185=)
c.40-135T= (n.40-135T=)
c.292T= (p.Tyr98=)
9g.124500407A>CCA374886837NR5A1c.553T>G (p.Tyr185Asp)
c.40-135T>G (n.40-135T>G)
c.292T>G (p.Tyr98Asp)
9g.124500407A>GCA199728878NR5A1c.553T>C (p.Tyr185His)
c.40-135T>C (n.40-135T>C)
c.292T>C (p.Tyr98His)
 dbSNP gnomAD v2 gnomAD v4
9g.124500407A>TCA374886840NR5A1c.553T>A (p.Tyr185Asn)
c.40-135T>A (n.40-135T>A)
c.292T>A (p.Tyr98Asn)
9g.124500408delCA2785906235NR5A1c.552del (p.Tyr185ThrfsTer?)
c.40-136del (n.40-136del)
c.291del (p.Tyr98ThrfsTer?)
9g.124500408G>ACA467208424NR5A1c.552C>T (p.Leu184=)
c.40-136C>T (n.40-136C>T)
c.291C>T (p.Leu97=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500408G>CCA467208425NR5A1c.552C>G (p.Leu184=)
c.40-136C>G (n.40-136C>G)
c.291C>G (p.Leu97=)
 dbSNP gnomAD v4
9g.124500408G=CA1878468818NR5A1c.552C= (p.Leu184=)
c.40-136C= (n.40-136C=)
c.291C= (p.Leu97=)
9g.124500408G>TCA467208426NR5A1c.552C>A (p.Leu184=)
c.40-136C>A (n.40-136C>A)
c.291C>A (p.Leu97=)
9g.124500409A=CA1878468842NR5A1c.551T= (p.Leu184=)
c.40-137T= (n.40-137T=)
c.290T= (p.Leu97=)
9g.124500409A>CCA374886843NR5A1c.551T>G (p.Leu184Arg)
c.40-137T>G (n.40-137T>G)
c.290T>G (p.Leu97Arg)
9g.124500409A>GCA374886845NR5A1c.551T>C (p.Leu184Pro)
c.40-137T>C (n.40-137T>C)
c.290T>C (p.Leu97Pro)
9g.124500409A>TCA374886847NR5A1c.551T>A (p.Leu184His)
c.40-137T>A (n.40-137T>A)
c.290T>A (p.Leu97His)
 dbSNP
9g.124500410G>ACA374886850NR5A1c.550C>T (p.Leu184Phe)
c.40-138C>T (n.40-138C>T)
c.289C>T (p.Leu97Phe)
9g.124500410G>CCA374886852NR5A1c.550C>G (p.Leu184Val)
c.40-138C>G (n.40-138C>G)
c.289C>G (p.Leu97Val)
9g.124500410G>TCA374886854NR5A1c.550C>A (p.Leu184Ile)
c.40-138C>A (n.40-138C>A)
c.289C>A (p.Leu97Ile)
 gnomAD v4
9g.124500411G>ACA467208428NR5A1c.549C>T (p.Tyr183=)
c.40-139C>T (n.40-139C>T)
c.288C>T (p.Tyr96=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500411G>CCA374886856NR5A1c.549C>G (p.Tyr183Ter)
c.40-139C>G (n.40-139C>G)
c.288C>G (p.Tyr96Ter)
9g.124500411G=CA1878468846NR5A1c.549C= (p.Tyr183=)
c.40-139C= (n.40-139C=)
c.288C= (p.Tyr96=)
9g.124500411G>TCA374886858NR5A1c.549C>A (p.Tyr183Ter)
c.40-139C>A (n.40-139C>A)
c.288C>A (p.Tyr96Ter)
9g.124500412T>ACA374886863NR5A1c.548A>T (p.Tyr183Phe)
c.40-140A>T (n.40-140A>T)
c.287A>T (p.Tyr96Phe)
9g.124500412T>CCA374886865NR5A1c.548A>G (p.Tyr183Cys)
c.40-140A>G (n.40-140A>G)
c.287A>G (p.Tyr96Cys)
9g.124500412T>GCA374886861NR5A1c.548A>C (p.Tyr183Ser)
c.40-140A>C (n.40-140A>C)
c.287A>C (p.Tyr96Ser)
9g.124500413A>CCA374886874NR5A1c.547T>G (p.Tyr183Asp)
c.40-141T>G (n.40-141T>G)
c.286T>G (p.Tyr96Asp)
9g.124500413A>GCA374886869NR5A1c.547T>C (p.Tyr183His)
c.40-141T>C (n.40-141T>C)
c.286T>C (p.Tyr96His)
 gnomAD v4
9g.124500413A>TCA374886871NR5A1c.547T>A (p.Tyr183Asn)
c.40-141T>A (n.40-141T>A)
c.286T>A (p.Tyr96Asn)
9g.124500414G>ACA467208430NR5A1c.546C>T (p.Gly182=)
c.40-142C>T (n.40-142C>T)
c.285C>T (p.Gly95=)
9g.124500414G>CCA467208431NR5A1c.546C>G (p.Gly182=)
c.40-142C>G (n.40-142C>G)
c.285C>G (p.Gly95=)
9g.124500414G>TCA467208432NR5A1c.546C>A (p.Gly182=)
c.40-142C>A (n.40-142C>A)
c.285C>A (p.Gly95=)
 gnomAD v4
9g.124500415C>ACA374886876NR5A1c.545G>T (p.Gly182Val)
c.40-143G>T (n.40-143G>T)
c.284G>T (p.Gly95Val)
 dbSNP
9g.124500415C=CA1878468854NR5A1c.545G= (p.Gly182=)
c.40-143G= (n.40-143G=)
c.284G= (p.Gly95=)
9g.124500415C>GCA374886878NR5A1c.545G>C (p.Gly182Ala)
c.40-143G>C (n.40-143G>C)
c.284G>C (p.Gly95Ala)
 dbSNP gnomAD v2 gnomAD v4
9g.124500415C>TCA374886880NR5A1c.545G>A (p.Gly182Asp)
c.40-143G>A (n.40-143G>A)
c.284G>A (p.Gly95Asp)
9g.124500416C>ACA374886887NR5A1c.544G>T (p.Gly182Cys)
c.40-144G>T (n.40-144G>T)
c.283G>T (p.Gly95Cys)
9g.124500416C=CA1878468855NR5A1c.544G= (p.Gly182=)
c.40-144G= (n.40-144G=)
c.283G= (p.Gly95=)
9g.124500416C>GCA374886885NR5A1c.544G>C (p.Gly182Arg)
c.40-144G>C (n.40-144G>C)
c.283G>C (p.Gly95Arg)
9g.124500416C>TCA199728884NR5A1c.544G>A (p.Gly182Ser)
c.40-144G>A (n.40-144G>A)
c.283G>A (p.Gly95Ser)
 dbSNP gnomAD v4
9g.124500417A=CA1878468858NR5A1c.543T= (p.Ala181=)
c.40-145T= (n.40-145T=)
c.282T= (p.Ala94=)
9g.124500417A>CCA467208434NR5A1c.543T>G (p.Ala181=)
c.40-145T>G (n.40-145T>G)
c.282T>G (p.Ala94=)
9g.124500417A>GCA467208435NR5A1c.543T>C (p.Ala181=)
c.40-145T>C (n.40-145T>C)
c.282T>C (p.Ala94=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500417A>TCA467208436NR5A1c.543T>A (p.Ala181=)
c.40-145T>A (n.40-145T>A)
c.282T>A (p.Ala94=)
9g.124500418G>ACA5235441NR5A1c.542C>T (p.Ala181Val)
c.40-146C>T (n.40-146C>T)
c.281C>T (p.Ala94Val)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500418G>CCA374886890NR5A1c.542C>G (p.Ala181Gly)
c.40-146C>G (n.40-146C>G)
c.281C>G (p.Ala94Gly)
9g.124500418G=CA1878468862NR5A1c.542C= (p.Ala181=)
c.40-146C= (n.40-146C=)
c.281C= (p.Ala94=)
9g.124500418G>TCA374886892NR5A1c.542C>A (p.Ala181Asp)
c.40-146C>A (n.40-146C>A)
c.281C>A (p.Ala94Asp)
9g.124500419C>ACA374886894NR5A1c.541G>T (p.Ala181Ser)
c.40-147G>T (n.40-147G>T)
c.280G>T (p.Ala94Ser)
9g.124500419C>GCA374886896NR5A1c.541G>C (p.Ala181Pro)
c.40-147G>C (n.40-147G>C)
c.280G>C (p.Ala94Pro)
9g.124500419C>TCA374886898NR5A1c.541G>A (p.Ala181Thr)
c.40-147G>A (n.40-147G>A)
c.280G>A (p.Ala94Thr)
9g.124500420C>ACA467208439NR5A1c.540G>T (p.Leu180=)
c.40-148G>T (n.40-148G>T)
c.279G>T (p.Leu93=)
9g.124500420C>GCA467208440NR5A1c.540G>C (p.Leu180=)
c.40-148G>C (n.40-148G>C)
c.279G>C (p.Leu93=)
9g.124500420C>TCA467208441NR5A1c.540G>A (p.Leu180=)
c.40-148G>A (n.40-148G>A)
c.279G>A (p.Leu93=)
9g.124500421A>CCA374886899NR5A1c.539T>G (p.Leu180Arg)
c.40-149T>G (n.40-149T>G)
c.278T>G (p.Leu93Arg)
9g.124500421A>GCA374886902NR5A1c.539T>C (p.Leu180Pro)
c.40-149T>C (n.40-149T>C)
c.278T>C (p.Leu93Pro)
9g.124500421A>TCA374886900NR5A1c.539T>A (p.Leu180Gln)
c.40-149T>A (n.40-149T>A)
c.278T>A (p.Leu93Gln)
9g.124500422G>ACA467208443NR5A1c.538C>T (p.Leu180=)
c.40-150C>T (n.40-150C>T)
c.277C>T (p.Leu93=)
9g.124500422G>CCA374886904NR5A1c.538C>G (p.Leu180Val)
c.40-150C>G (n.40-150C>G)
c.277C>G (p.Leu93Val)
9g.124500422G>TCA374886905NR5A1c.538C>A (p.Leu180Met)
c.40-150C>A (n.40-150C>A)
c.277C>A (p.Leu93Met)
9g.124500423T>ACA467208446NR5A1c.537A>T (p.Pro179=)
c.40-151A>T (n.40-151A>T)
c.276A>T (p.Pro92=)
9g.124500423T>CCA467208445NR5A1c.537A>G (p.Pro179=)
c.40-151A>G (n.40-151A>G)
c.276A>G (p.Pro92=)
9g.124500423T>GCA467208444NR5A1c.537A>C (p.Pro179=)
c.40-151A>C (n.40-151A>C)
c.276A>C (p.Pro92=)
9g.124500423_124500505delinsTGGCCCGTGGGCACCGGGCACGGCCATGGGCAGTGCTGGGGCCCCAAAGTCGCCCAGTGGCCCAGCAGGTGGACCGGCGGCCACA1878468864NR5A1c.455_537delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu152=)
c.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (n.40-233_40-151delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA)
c.194_276delinsTGGCCGCCGGTCCACCTGCTGGGCCACTGGGCGACTTTGGGGCCCCAGCACTGCCCATGGCCGTGCCCGGTGCCCACGGGCCA (p.Leu65=)
9g.124500424G>ACA374886907NR5A1c.536C>T (p.Pro179Leu)
c.40-152C>T (n.40-152C>T)
c.275C>T (p.Pro92Leu)
 dbSNP
9g.124500424G>CCA374886909NR5A1c.536C>G (p.Pro179Arg)
c.40-152C>G (n.40-152C>G)
c.275C>G (p.Pro92Arg)
9g.124500424G=CA1878468872NR5A1c.536C= (p.Pro179=)
c.40-152C= (n.40-152C=)
c.275C= (p.Pro92=)
9g.124500424G>TCA374886911NR5A1c.536C>A (p.Pro179Gln)
c.40-152C>A (n.40-152C>A)
c.275C>A (p.Pro92Gln)
9g.124500425delCA2695211092NR5A1c.536del (p.Pro179HisfsTer?)
c.40-152del (n.40-152del)
c.275del (p.Pro92HisfsTer?)
9g.124500429_124500510delCA915947130NR5A1c.455_536del (p.Leu152HisfsTer?)
c.40-233_40-152del (n.40-233_40-152del)
c.194_275del (p.Leu65HisfsTer?)
 ClinVar dbSNP
9g.124500425G>ACA374886912NR5A1c.535C>T (p.Pro179Ser)
c.40-153C>T (n.40-153C>T)
c.274C>T (p.Pro92Ser)
 gnomAD v4
9g.124500425G>CCA374886914NR5A1c.535C>G (p.Pro179Ala)
c.40-153C>G (n.40-153C>G)
c.274C>G (p.Pro92Ala)
9g.124500425G>TCA374886916NR5A1c.535C>A (p.Pro179Thr)
c.40-153C>A (n.40-153C>A)
c.274C>A (p.Pro92Thr)
9g.124500426C>ACA467208449NR5A1c.534G>T (p.Gly178=)
c.40-154G>T (n.40-154G>T)
c.273G>T (p.Gly91=)
 gnomAD v4
9g.124500426C>GCA467208450NR5A1c.534G>C (p.Gly178=)
c.40-154G>C (n.40-154G>C)
c.273G>C (p.Gly91=)
9g.124500426C>TCA467208451NR5A1c.534G>A (p.Gly178=)
c.40-154G>A (n.40-154G>A)
c.273G>A (p.Gly91=)
9g.124500426_124500438delinsTAGCCAGCCAGTGGCCCCA2695211093NR5A1c.522_534delinsGGGCCACTGGCTGGCTA (p.Ala176HisfsTer22)
c.40-166_40-154delinsGGGCCACTGGCTGGCTA (n.40-166_40-154delinsGGGCCACTGGCTGGCTA)
c.261_273delinsGGGCCACTGGCTGGCTA (p.Ala89HisfsTer22)
9g.124500427C>ACA374886918NR5A1c.533G>T (p.Gly178Val)
c.40-155G>T (n.40-155G>T)
c.533G>T
c.272G>T (p.Gly91Val)
 dbSNP gnomAD v2 gnomAD v4
9g.124500427C=CA1878468876NR5A1c.533G= (p.Gly178=)
c.40-155G= (n.40-155G=)
c.533G=
c.272G= (p.Gly91=)
9g.124500427C>GCA374886921NR5A1c.533G>C (p.Gly178Ala)
c.40-155G>C (n.40-155G>C)
c.533G>C
c.272G>C (p.Gly91Ala)
9g.124500427C>TCA374886923NR5A1c.533G>A (p.Gly178Glu)
c.40-155G>A (n.40-155G>A)
c.533G>A
c.272G>A (p.Gly91Glu)
9g.124500428C>ACA374886927NR5A1c.532G>T (p.Gly178Trp)
c.40-156G>T (n.40-156G>T)
c.532G>T
c.271G>T (p.Gly91Trp)
9g.124500428C=CA1878468882NR5A1c.532G= (p.Gly178=)
c.40-156G= (n.40-156G=)
c.532G=
c.271G= (p.Gly91=)
9g.124500428C>GCA374886929NR5A1c.532G>C (p.Gly178Arg)
c.40-156G>C (n.40-156G>C)
c.532G>C
c.271G>C (p.Gly91Arg)
9g.124500428C>TCA5235442NR5A1c.532G>A (p.Gly178Arg)
c.40-156G>A (n.40-156G>A)
c.532G>A
c.271G>A (p.Gly91Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500429G>ACA5235443NR5A1c.531C>T (p.His177=)
c.40-157C>T (n.40-157C>T)
c.270C>T (p.His90=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500429G>CCA374886933NR5A1c.531C>G (p.His177Gln)
c.40-157C>G (n.40-157C>G)
c.270C>G (p.His90Gln)
9g.124500429G=CA1878468886NR5A1c.531C= (p.His177=)
c.40-157C= (n.40-157C=)
c.270C= (p.His90=)
9g.124500429G>TCA374886935NR5A1c.531C>A (p.His177Gln)
c.40-157C>A (n.40-157C>A)
c.270C>A (p.His90Gln)
 gnomAD v4
9g.124500430T>ACA374886937NR5A1c.530A>T (p.His177Leu)
c.40-158A>T (n.40-158A>T)
c.269A>T (p.His90Leu)
9g.124500430T>CCA374886940NR5A1c.530A>G (p.His177Arg)
c.40-158A>G (n.40-158A>G)
c.269A>G (p.His90Arg)
9g.124500430T>GCA374886943NR5A1c.530A>C (p.His177Pro)
c.40-158A>C (n.40-158A>C)
c.269A>C (p.His90Pro)
9g.124500431G>ACA374886949NR5A1c.529C>T (p.His177Tyr)
c.40-159C>T (n.40-159C>T)
c.268C>T (p.His90Tyr)
 gnomAD v4
9g.124500431G>CCA374886945NR5A1c.529C>G (p.His177Asp)
c.40-159C>G (n.40-159C>G)
c.268C>G (p.His90Asp)
9g.124500431G>TCA374886947NR5A1c.529C>A (p.His177Asn)
c.40-159C>A (n.40-159C>A)
c.268C>A (p.His90Asn)
9g.124500432G>ACA467208456NR5A1c.528C>T (p.Ala176=)
c.40-160C>T (n.40-160C>T)
c.267C>T (p.Ala89=)
9g.124500432G>CCA467208459NR5A1c.528C>G (p.Ala176=)
c.40-160C>G (n.40-160C>G)
c.267C>G (p.Ala89=)
9g.124500432G>TCA467208460NR5A1c.528C>A (p.Ala176=)
c.40-160C>A (n.40-160C>A)
c.267C>A (p.Ala89=)
9g.124500433G>ACA374886952NR5A1c.527C>T (p.Ala176Val)
c.40-161C>T (n.40-161C>T)
c.266C>T (p.Ala89Val)
 dbSNP gnomAD v2 gnomAD v4
9g.124500433G>CCA374886953NR5A1c.527C>G (p.Ala176Gly)
c.40-161C>G (n.40-161C>G)
c.266C>G (p.Ala89Gly)
9g.124500433G=CA1878468888NR5A1c.527C= (p.Ala176=)
c.40-161C= (n.40-161C=)
c.266C= (p.Ala89=)
9g.124500433G>TCA374886955NR5A1c.527C>A (p.Ala176Asp)
c.40-161C>A (n.40-161C>A)
c.266C>A (p.Ala89Asp)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500434C>ACA374886958NR5A1c.526G>T (p.Ala176Ser)
c.40-162G>T (n.40-162G>T)
c.265G>T (p.Ala89Ser)
9g.124500434C>GCA374886959NR5A1c.526G>C (p.Ala176Pro)
c.40-162G>C (n.40-162G>C)
c.265G>C (p.Ala89Pro)
9g.124500434C>TCA374886961NR5A1c.526G>A (p.Ala176Thr)
c.40-162G>A (n.40-162G>A)
c.265G>A (p.Ala89Thr)
9g.124500435A>CCA467208463NR5A1c.525T>G (p.Gly175=)
c.40-163T>G (n.40-163T>G)
c.264T>G (p.Gly88=)
9g.124500435A>GCA467208464NR5A1c.525T>C (p.Gly175=)
c.40-163T>C (n.40-163T>C)
c.264T>C (p.Gly88=)
9g.124500435A>TCA467208465NR5A1c.525T>A (p.Gly175=)
c.40-163T>A (n.40-163T>A)
c.264T>A (p.Gly88=)
9g.124500436C>ACA374886964NR5A1c.524G>T (p.Gly175Val)
c.40-164G>T (n.40-164G>T)
c.263G>T (p.Gly88Val)
 gnomAD v4
9g.124500436C=CA1878468891NR5A1c.524G= (p.Gly175=)
c.40-164G= (n.40-164G=)
c.263G= (p.Gly88=)
9g.124500436C>GCA374886969NR5A1c.524G>C (p.Gly175Ala)
c.40-164G>C (n.40-164G>C)
c.263G>C (p.Gly88Ala)
9g.124500436C>TCA374886966NR5A1c.524G>A (p.Gly175Asp)
c.40-164G>A (n.40-164G>A)
c.263G>A (p.Gly88Asp)
 dbSNP gnomAD v2
9g.124500437C>ACA374886972NR5A1c.523G>T (p.Gly175Cys)
c.40-165G>T (n.40-165G>T)
c.262G>T (p.Gly88Cys)
 gnomAD v4
9g.124500437C=CA1878468896NR5A1c.523G= (p.Gly175=)
c.40-165G= (n.40-165G=)
c.262G= (p.Gly88=)
9g.124500437C>GCA374886973NR5A1c.523G>C (p.Gly175Arg)
c.40-165G>C (n.40-165G>C)
c.262G>C (p.Gly88Arg)
9g.124500437C>TCA199728905NR5A1c.523G>A (p.Gly175Ser)
c.40-165G>A (n.40-165G>A)
c.262G>A (p.Gly88Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500438G>ACA467208474NR5A1c.522C>T (p.Pro174=)
c.40-166C>T (n.40-166C>T)
c.261C>T (p.Pro87=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500438G>CCA467208472NR5A1c.522C>G (p.Pro174=)
c.40-166C>G (n.40-166C>G)
c.261C>G (p.Pro87=)
 gnomAD v4
9g.124500438G=CA1878468900NR5A1c.522C= (p.Pro174=)
c.40-166C= (n.40-166C=)
c.261C= (p.Pro87=)
9g.124500438G>TCA467208470NR5A1c.522C>A (p.Pro174=)
c.40-166C>A (n.40-166C>A)
c.261C>A (p.Pro87=)
 gnomAD v4
9g.124500439G>ACA199728906NR5A1c.521C>T (p.Pro174Leu)
c.40-167C>T (n.40-167C>T)
c.260C>T (p.Pro87Leu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
9g.124500439G>CCA374886978NR5A1c.521C>G (p.Pro174Arg)
c.40-167C>G (n.40-167C>G)
c.260C>G (p.Pro87Arg)
 COSMIC
9g.124500439G=CA1878468901NR5A1c.521C= (p.Pro174=)
c.40-167C= (n.40-167C=)
c.260C= (p.Pro87=)
9g.124500439G>TCA374886980NR5A1c.521C>A (p.Pro174His)
c.40-167C>A (n.40-167C>A)
c.260C>A (p.Pro87His)
 gnomAD v4
9g.124500440G>ACA374886983NR5A1c.520C>T (p.Pro174Ser)
c.40-168C>T (n.40-168C>T)
c.259C>T (p.Pro87Ser)
9g.124500440G>CCA374886984NR5A1c.520C>G (p.Pro174Ala)
c.40-168C>G (n.40-168C>G)
c.259C>G (p.Pro87Ala)
 dbSNP
9g.124500440G=CA1878468907NR5A1c.520C= (p.Pro174=)
c.40-168C= (n.40-168C=)
c.259C= (p.Pro87=)
9g.124500440G>TCA374886986NR5A1c.520C>A (p.Pro174Thr)
c.40-168C>A (n.40-168C>A)
c.259C>A (p.Pro87Thr)
 gnomAD v4
9g.124500441C>ACA467208481NR5A1c.519G>T (p.Val173=)
c.40-169G>T (n.40-169G>T)
c.258G>T (p.Val86=)
9g.124500441C>GCA467208484NR5A1c.519G>C (p.Val173=)
c.40-169G>C (n.40-169G>C)
c.258G>C (p.Val86=)
9g.124500441C>TCA467208485NR5A1c.519G>A (p.Val173=)
c.40-169G>A (n.40-169G>A)
c.258G>A (p.Val86=)
9g.124500442A>CCA374886988NR5A1c.518T>G (p.Val173Gly)
c.40-170T>G (n.40-170T>G)
c.257T>G (p.Val86Gly)
9g.124500442A>GCA374886990NR5A1c.518T>C (p.Val173Ala)
c.40-170T>C (n.40-170T>C)
c.257T>C (p.Val86Ala)
9g.124500442A>TCA374886992NR5A1c.518T>A (p.Val173Glu)
c.40-170T>A (n.40-170T>A)
c.257T>A (p.Val86Glu)
9g.124500443C>ACA374886994NR5A1c.517G>T (p.Val173Leu)
c.40-171G>T (n.40-171G>T)
c.256G>T (p.Val86Leu)
9g.124500443C=CA1878468914NR5A1c.517G= (p.Val173=)
c.40-171G= (n.40-171G=)
c.256G= (p.Val86=)
9g.124500443C>GCA374886996NR5A1c.517G>C (p.Val173Leu)
c.40-171G>C (n.40-171G>C)
c.256G>C (p.Val86Leu)
9g.124500443C>TCA5235444NR5A1c.517G>A (p.Val173Met)
c.40-171G>A (n.40-171G>A)
c.256G>A (p.Val86Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500444G>ACA292580NR5A1c.516C>T (p.Ala172=)
c.40-172C>T (n.40-172C>T)
c.255C>T (p.Ala85=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500444G>CCA467208491NR5A1c.516C>G (p.Ala172=)
c.40-172C>G (n.40-172C>G)
c.255C>G (p.Ala85=)
 dbSNP
9g.124500444G=CA1878468920NR5A1c.516C= (p.Ala172=)
c.40-172C= (n.40-172C=)
c.255C= (p.Ala85=)
9g.124500444G>TCA467208493NR5A1c.516C>A (p.Ala172=)
c.40-172C>A (n.40-172C>A)
c.255C>A (p.Ala85=)
9g.124500445G>ACA199728919NR5A1c.515C>T (p.Ala172Val)
c.40-173C>T (n.40-173C>T)
c.254C>T (p.Ala85Val)
 dbSNP gnomAD v4
9g.124500445G>CCA374887000NR5A1c.515C>G (p.Ala172Gly)
c.40-173C>G (n.40-173C>G)
c.254C>G (p.Ala85Gly)
9g.124500445G=CA1878468922NR5A1c.515C= (p.Ala172=)
c.40-173C= (n.40-173C=)
c.254C= (p.Ala85=)
9g.124500445G>TCA374887001NR5A1c.515C>A (p.Ala172Asp)
c.40-173C>A (n.40-173C>A)
c.254C>A (p.Ala85Asp)
9g.124500446C>ACA374887002NR5A1c.514G>T (p.Ala172Ser)
c.40-174G>T (n.40-174G>T)
c.253G>T (p.Ala85Ser)
 gnomAD v4
9g.124500446C=CA1878468926NR5A1c.514G= (p.Ala172=)
c.40-174G= (n.40-174G=)
c.253G= (p.Ala85=)
9g.124500446C>GCA374887003NR5A1c.514G>C (p.Ala172Pro)
c.40-174G>C (n.40-174G>C)
c.253G>C (p.Ala85Pro)
9g.124500446C>TCA374887004NR5A1c.514G>A (p.Ala172Thr)
c.40-174G>A (n.40-174G>A)
c.253G>A (p.Ala85Thr)
 dbSNP gnomAD v4
9g.124500447C>ACA374887005NR5A1c.513G>T (p.Met171Ile)
c.40-175G>T (n.40-175G>T)
c.252G>T (p.Met84Ile)
 gnomAD v4
9g.124500447C=CA1878468933NR5A1c.513G= (p.Met171=)
c.40-175G= (n.40-175G=)
c.252G= (p.Met84=)
9g.124500447C>GCA374887006NR5A1c.513G>C (p.Met171Ile)
c.40-175G>C (n.40-175G>C)
c.252G>C (p.Met84Ile)
9g.124500447C>TCA374887007NR5A1c.513G>A (p.Met171Ile)
c.40-175G>A (n.40-175G>A)
c.252G>A (p.Met84Ile)
 dbSNP
9g.124500448A=CA1878468940NR5A1c.512T= (p.Met171=)
c.40-176T= (n.40-176T=)
c.251T= (p.Met84=)
9g.124500448A>CCA374887009NR5A1c.512T>G (p.Met171Arg)
c.40-176T>G (n.40-176T>G)
c.251T>G (p.Met84Arg)
9g.124500448A>GCA5235445NR5A1c.512T>C (p.Met171Thr)
c.40-176T>C (n.40-176T>C)
c.251T>C (p.Met84Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500448A>TCA374887008NR5A1c.512T>A (p.Met171Lys)
c.40-176T>A (n.40-176T>A)
c.251T>A (p.Met84Lys)
9g.124500449T>ACA374887010NR5A1c.511A>T (p.Met171Leu)
c.40-177A>T (n.40-177A>T)
c.250A>T (p.Met84Leu)
9g.124500449T>CCA374887011NR5A1c.511A>G (p.Met171Val)
c.40-177A>G (n.40-177A>G)
c.250A>G (p.Met84Val)
9g.124500449T>GCA374887012NR5A1c.511A>C (p.Met171Leu)
c.40-177A>C (n.40-177A>C)
c.250A>C (p.Met84Leu)
9g.124500450G>ACA199728928NR5A1c.510C>T (p.Pro170=)
c.40-178C>T (n.40-178C>T)
c.249C>T (p.Pro83=)
 dbSNP gnomAD v2 gnomAD v4
9g.124500450G>CCA467208502NR5A1c.510C>G (p.Pro170=)
c.40-178C>G (n.40-178C>G)
c.249C>G (p.Pro83=)
9g.124500450G=CA1878468946NR5A1c.510C= (p.Pro170=)
c.40-178C= (n.40-178C=)
c.249C= (p.Pro83=)
9g.124500450G>TCA467208503NR5A1c.510C>A (p.Pro170=)
c.40-178C>A (n.40-178C>A)
c.249C>A (p.Pro83=)
9g.124500451G>ACA374887013NR5A1c.509C>T (p.Pro170Leu)
c.40-179C>T (n.40-179C>T)
c.248C>T (p.Pro83Leu)
 dbSNP gnomAD v2
9g.124500451G>CCA374887014NR5A1c.509C>G (p.Pro170Arg)
c.40-179C>G (n.40-179C>G)
c.248C>G (p.Pro83Arg)
9g.124500451G=CA1878468949NR5A1c.509C= (p.Pro170=)
c.40-179C= (n.40-179C=)
c.248C= (p.Pro83=)
9g.124500451G>TCA374887015NR5A1c.509C>A (p.Pro170His)
c.40-179C>A (n.40-179C>A)
c.248C>A (p.Pro83His)
 dbSNP gnomAD v2
9g.124500452G>ACA374887016NR5A1c.508C>T (p.Pro170Ser)
c.40-180C>T (n.40-180C>T)
c.247C>T (p.Pro83Ser)
 dbSNP gnomAD v3 gnomAD v4
9g.124500452G>CCA374887018NR5A1c.508C>G (p.Pro170Ala)
c.40-180C>G (n.40-180C>G)
c.247C>G (p.Pro83Ala)
9g.124500452G=CA1878468955NR5A1c.508C= (p.Pro170=)
c.40-180C= (n.40-180C=)
c.247C= (p.Pro83=)
9g.124500452G>TCA374887017NR5A1c.508C>A (p.Pro170Thr)
c.40-180C>A (n.40-180C>A)
c.247C>A (p.Pro83Thr)
9g.124500453C>ACA467208507NR5A1c.507G>T (p.Leu169=)
c.40-181G>T (n.40-181G>T)
c.246G>T (p.Leu82=)
9g.124500453C>GCA467208508NR5A1c.507G>C (p.Leu169=)
c.40-181G>C (n.40-181G>C)
c.246G>C (p.Leu82=)
 gnomAD v4
9g.124500453C>TCA467208510NR5A1c.507G>A (p.Leu169=)
c.40-181G>A (n.40-181G>A)
c.246G>A (p.Leu82=)
9g.124500454A>CCA374887019NR5A1c.506T>G (p.Leu169Arg)
c.40-182T>G (n.40-182T>G)
c.245T>G (p.Leu82Arg)
 gnomAD v4
9g.124500454A>GCA374887020NR5A1c.506T>C (p.Leu169Pro)
c.40-182T>C (n.40-182T>C)
c.245T>C (p.Leu82Pro)
9g.124500454A>TCA374887021NR5A1c.506T>A (p.Leu169Gln)
c.40-182T>A (n.40-182T>A)
c.245T>A (p.Leu82Gln)
9g.124500455G>ACA199728936NR5A1c.505C>T (p.Leu169=)
c.40-183C>T (n.40-183C>T)
c.244C>T (p.Leu82=)
 dbSNP gnomAD v4
9g.124500455G>CCA374887022NR5A1c.505C>G (p.Leu169Val)
c.40-183C>G (n.40-183C>G)
c.244C>G (p.Leu82Val)
9g.124500455G=CA1878468962NR5A1c.505C= (p.Leu169=)
c.40-183C= (n.40-183C=)
c.244C= (p.Leu82=)
9g.124500455G>TCA374887023NR5A1c.505C>A (p.Leu169Met)
c.40-183C>A (n.40-183C>A)
c.244C>A (p.Leu82Met)
9g.124500456T>ACA467208513NR5A1c.504A>T (p.Ala168=)
c.40-184A>T (n.40-184A>T)
c.243A>T (p.Ala81=)
9g.124500456T>CCA467208515NR5A1c.504A>G (p.Ala168=)
c.40-184A>G (n.40-184A>G)
c.243A>G (p.Ala81=)
9g.124500456T>GCA467208517NR5A1c.504A>C (p.Ala168=)
c.40-184A>C (n.40-184A>C)
c.243A>C (p.Ala81=)
 dbSNP
9g.124500456T=CA1878468966NR5A1c.504A= (p.Ala168=)
c.40-184A= (n.40-184A=)
c.243A= (p.Ala81=)
9g.124500457G>ACA5235446NR5A1c.503C>T (p.Ala168Val)
c.40-185C>T (n.40-185C>T)
c.242C>T (p.Ala81Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500457G>CCA374887024NR5A1c.503C>G (p.Ala168Gly)
c.40-185C>G (n.40-185C>G)
c.242C>G (p.Ala81Gly)
9g.124500457G=CA1878468973NR5A1c.503C= (p.Ala168=)
c.40-185C= (n.40-185C=)
c.242C= (p.Ala81=)
9g.124500457G>TCA5235447NR5A1c.503C>A (p.Ala168Glu)
c.40-185C>A (n.40-185C>A)
c.242C>A (p.Ala81Glu)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500459_124500464delCA2691611111NR5A1c.498_503del (p.Pro167_Ala168del)
c.40-190_40-185del (n.40-190_40-185del)
c.237_242del (p.Pro80_Ala81del)
 gnomAD v4
9g.124500458C>ACA374887025NR5A1c.502G>T (p.Ala168Ser)
c.40-186G>T (n.40-186G>T)
c.241G>T (p.Ala81Ser)
 gnomAD v4
9g.124500458C=CA1878468976NR5A1c.502G= (p.Ala168=)
c.40-186G= (n.40-186G=)
c.241G= (p.Ala81=)
9g.124500458C>GCA199728937NR5A1c.502G>C (p.Ala168Pro)
c.40-186G>C (n.40-186G>C)
c.241G>C (p.Ala81Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500458C>TCA374887026NR5A1c.502G>A (p.Ala168Thr)
c.40-186G>A (n.40-186G>A)
c.241G>A (p.Ala81Thr)
 dbSNP gnomAD v2
9g.124500459T>ACA467208522NR5A1c.501A>T (p.Pro167=)
c.40-187A>T (n.40-187A>T)
c.240A>T (p.Pro80=)
9g.124500459T>CCA467208521NR5A1c.501A>G (p.Pro167=)
c.40-187A>G (n.40-187A>G)
c.240A>G (p.Pro80=)
 gnomAD v4
9g.124500459T>GCA467208520NR5A1c.501A>C (p.Pro167=)
c.40-187A>C (n.40-187A>C)
c.240A>C (p.Pro80=)
9g.124500460G>ACA374887029NR5A1c.500C>T (p.Pro167Leu)
c.40-188C>T (n.40-188C>T)
c.239C>T (p.Pro80Leu)
 gnomAD v4
9g.124500460G>CCA374887027NR5A1c.500C>G (p.Pro167Arg)
c.40-188C>G (n.40-188C>G)
c.239C>G (p.Pro80Arg)
9g.124500460G>TCA374887028NR5A1c.500C>A (p.Pro167Gln)
c.40-188C>A (n.40-188C>A)
c.239C>A (p.Pro80Gln)
9g.124500463delCA645548667NR5A1c.500del (p.Pro167GlnfsTer?)
c.40-188del (n.40-188del)
c.239del (p.Pro80GlnfsTer?)
 COSMIC
9g.124500461G>ACA374887030NR5A1c.499C>T (p.Pro167Ser)
c.40-189C>T (n.40-189C>T)
c.238C>T (p.Pro80Ser)
 gnomAD v4
9g.124500461G>CCA5235448NR5A1c.499C>G (p.Pro167Ala)
c.40-189C>G (n.40-189C>G)
c.238C>G (p.Pro80Ala)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500461G=CA1878468977NR5A1c.499C= (p.Pro167=)
c.40-189C= (n.40-189C=)
c.238C= (p.Pro80=)
9g.124500461G>TCA374887031NR5A1c.499C>A (p.Pro167Thr)
c.40-189C>A (n.40-189C>A)
c.238C>A (p.Pro80Thr)
9g.124500462G>ACA467208524NR5A1c.498C>T (p.Ala166=)
c.40-190C>T (n.40-190C>T)
c.237C>T (p.Ala79=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500462G>CCA467208525NR5A1c.498C>G (p.Ala166=)
c.40-190C>G (n.40-190C>G)
c.237C>G (p.Ala79=)
9g.124500462G=CA1878468980NR5A1c.498C= (p.Ala166=)
c.40-190C= (n.40-190C=)
c.237C= (p.Ala79=)
9g.124500462G>TCA467208526NR5A1c.498C>A (p.Ala166=)
c.40-190C>A (n.40-190C>A)
c.237C>A (p.Ala79=)
9g.124500463G>ACA374887032NR5A1c.497C>T (p.Ala166Val)
c.40-191C>T (n.40-191C>T)
c.236C>T (p.Ala79Val)
 dbSNP
9g.124500463G>CCA5235449NR5A1c.497C>G (p.Ala166Gly)
c.40-191C>G (n.40-191C>G)
c.236C>G (p.Ala79Gly)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500463G=CA1878468984NR5A1c.497C= (p.Ala166=)
c.40-191C= (n.40-191C=)
c.236C= (p.Ala79=)
9g.124500463G>TCA374887033NR5A1c.497C>A (p.Ala166Asp)
c.40-191C>A (n.40-191C>A)
c.236C>A (p.Ala79Asp)
9g.124500464C>ACA374887391NR5A1c.496G>T (p.Ala166Ser)
c.40-192G>T (n.40-192G>T)
c.235G>T (p.Ala79Ser)
 gnomAD v4
9g.124500464C=CA1878468988NR5A1c.496G= (p.Ala166=)
c.40-192G= (n.40-192G=)
c.235G= (p.Ala79=)
9g.124500464C>GCA5235450NR5A1c.496G>C (p.Ala166Pro)
c.40-192G>C (n.40-192G>C)
c.235G>C (p.Ala79Pro)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500464C>TCA374887407NR5A1c.496G>A (p.Ala166Thr)
c.40-192G>A (n.40-192G>A)
c.235G>A (p.Ala79Thr)
 gnomAD v4
9g.124500465C>ACA467208078NR5A1c.495G>T (p.Gly165=)
c.40-193G>T (n.40-193G>T)
c.234G>T (p.Gly78=)
9g.124500465C=CA1878468992NR5A1c.495G= (p.Gly165=)
c.40-193G= (n.40-193G=)
c.234G= (p.Gly78=)
9g.124500465C>GCA467208079NR5A1c.495G>C (p.Gly165=)
c.40-193G>C (n.40-193G>C)
c.234G>C (p.Gly78=)
9g.124500465C>TCA5235451NR5A1c.495G>A (p.Gly165=)
c.40-193G>A (n.40-193G>A)
c.234G>A (p.Gly78=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500466C>ACA374887429NR5A1c.494G>T (p.Gly165Val)
c.40-194G>T (n.40-194G>T)
c.233G>T (p.Gly78Val)
9g.124500466C=CA1878468996NR5A1c.494G= (p.Gly165=)
c.40-194G= (n.40-194G=)
c.233G= (p.Gly78=)
9g.124500466C>GCA374887430NR5A1c.494G>C (p.Gly165Ala)
c.40-194G>C (n.40-194G>C)
c.233G>C (p.Gly78Ala)
9g.124500466C>TCA374887434NR5A1c.494G>A (p.Gly165Glu)
c.40-194G>A (n.40-194G>A)
c.233G>A (p.Gly78Glu)
 dbSNP gnomAD v2
9g.124500467C>ACA374887451NR5A1c.493G>T (p.Gly165Trp)
c.40-195G>T (n.40-195G>T)
c.232G>T (p.Gly78Trp)
9g.124500467C=CA1878468999NR5A1c.493G= (p.Gly165=)
c.40-195G= (n.40-195G=)
c.232G= (p.Gly78=)
9g.124500467C>GCA5235452NR5A1c.493G>C (p.Gly165Arg)
c.40-195G>C (n.40-195G>C)
c.232G>C (p.Gly78Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500467C>TCA374887443NR5A1c.493G>A (p.Gly165Arg)
c.40-195G>A (n.40-195G>A)
c.232G>A (p.Gly78Arg)
9g.124500468A>CCA374887456NR5A1c.492T>G (p.Phe164Leu)
c.40-196T>G (n.40-196T>G)
c.231T>G (p.Phe77Leu)
9g.124500468A>GCA467208080NR5A1c.492T>C (p.Phe164=)
c.40-196T>C (n.40-196T>C)
c.231T>C (p.Phe77=)
9g.124500468A>TCA374887462NR5A1c.492T>A (p.Phe164Leu)
c.40-196T>A (n.40-196T>A)
c.231T>A (p.Phe77Leu)
9g.124500469A=CA1878469003NR5A1c.491T= (p.Phe164=)
c.40-197T= (n.40-197T=)
c.230T= (p.Phe77=)
9g.124500469A>CCA374887467NR5A1c.491T>G (p.Phe164Cys)
c.40-197T>G (n.40-197T>G)
c.230T>G (p.Phe77Cys)
9g.124500469A>GCA374887472NR5A1c.491T>C (p.Phe164Ser)
c.40-197T>C (n.40-197T>C)
c.230T>C (p.Phe77Ser)
 dbSNP gnomAD v4
9g.124500469A>TCA374887474NR5A1c.491T>A (p.Phe164Tyr)
c.40-197T>A (n.40-197T>A)
c.230T>A (p.Phe77Tyr)
9g.124500470A>CCA374887479NR5A1c.490T>G (p.Phe164Val)
c.40-198T>G (n.40-198T>G)
c.229T>G (p.Phe77Val)
9g.124500470A>GCA374887485NR5A1c.490T>C (p.Phe164Leu)
c.40-198T>C (n.40-198T>C)
c.229T>C (p.Phe77Leu)
9g.124500470A>TCA374887489NR5A1c.490T>A (p.Phe164Ile)
c.40-198T>A (n.40-198T>A)
c.229T>A (p.Phe77Ile)
9g.124500471G>ACA467208081NR5A1c.489C>T (p.Asp163=)
c.40-199C>T (n.40-199C>T)
c.228C>T (p.Asp76=)
 gnomAD v4
9g.124500471G>CCA374887492NR5A1c.489C>G (p.Asp163Glu)
c.40-199C>G (n.40-199C>G)
c.228C>G (p.Asp76Glu)
9g.124500471G=CA1878469010NR5A1c.489C= (p.Asp163=)
c.40-199C= (n.40-199C=)
c.228C= (p.Asp76=)
9g.124500471G>TCA374887493NR5A1c.489C>A (p.Asp163Glu)
c.40-199C>A (n.40-199C>A)
c.228C>A (p.Asp76Glu)
 dbSNP gnomAD v2 gnomAD v4
9g.124500472T>ACA374887494NR5A1c.488A>T (p.Asp163Val)
c.40-200A>T (n.40-200A>T)
c.227A>T (p.Asp76Val)
 ClinVar gnomAD v4
9g.124500472T>CCA374887495NR5A1c.488A>G (p.Asp163Gly)
c.40-200A>G (n.40-200A>G)
c.227A>G (p.Asp76Gly)
 dbSNP gnomAD v3 gnomAD v4
9g.124500472T>GCA374887497NR5A1c.488A>C (p.Asp163Ala)
c.40-200A>C (n.40-200A>C)
c.227A>C (p.Asp76Ala)
9g.124500472T=CA1878469018NR5A1c.488A= (p.Asp163=)
c.40-200A= (n.40-200A=)
c.227A= (p.Asp76=)
9g.124500473C>ACA374887503NR5A1c.487G>T (p.Asp163Tyr)
c.40-201G>T (n.40-201G>T)
c.226G>T (p.Asp76Tyr)
 gnomAD v4
9g.124500473C=CA1878469019NR5A1c.487G= (p.Asp163=)
c.40-201G= (n.40-201G=)
c.226G= (p.Asp76=)
9g.124500473C>GCA374887507NR5A1c.487G>C (p.Asp163His)
c.40-201G>C (n.40-201G>C)
c.226G>C (p.Asp76His)
9g.124500473C>TCA5235453NR5A1c.487G>A (p.Asp163Asn)
c.40-201G>A (n.40-201G>A)
c.226G>A (p.Asp76Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500474G>ACA5235454NR5A1c.486C>T (p.Gly162=)
c.40-202C>T (n.40-202C>T)
c.225C>T (p.Gly75=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500474G>CCA5235455NR5A1c.486C>G (p.Gly162=)
c.40-202C>G (n.40-202C>G)
c.225C>G (p.Gly75=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500474G=CA1878469022NR5A1c.486C= (p.Gly162=)
c.40-202C= (n.40-202C=)
c.225C= (p.Gly75=)
9g.124500474G>TCA5235456NR5A1c.486C>A (p.Gly162=)
c.40-202C>A (n.40-202C>A)
c.225C>A (p.Gly75=)
 dbSNP ExAC gnomAD v2 gnomAD v4
9g.124500475C>ACA374887521NR5A1c.485G>T (p.Gly162Val)
c.40-203G>T (n.40-203G>T)
c.224G>T (p.Gly75Val)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
9g.124500475C=CA1878469030NR5A1c.485G= (p.Gly162=)
c.40-203G= (n.40-203G=)
c.224G= (p.Gly75=)
9g.124500475C>GCA374887526NR5A1c.485G>C (p.Gly162Ala)
c.40-203G>C (n.40-203G>C)
c.224G>C (p.Gly75Ala)
9g.124500475C>TCA374887529NR5A1c.485G>A (p.Gly162Asp)
c.40-203G>A (n.40-203G>A)
c.224G>A (p.Gly75Asp)
 gnomAD v4
9g.124500476C>ACA374887542NR5A1c.484G>T (p.Gly162Cys)
c.40-204G>T (n.40-204G>T)
c.223G>T (p.Gly75Cys)
9g.124500476C>GCA374887539NR5A1c.484G>C (p.Gly162Arg)
c.40-204G>C (n.40-204G>C)
c.223G>C (p.Gly75Arg)
9g.124500476C>TCA374887535NR5A1c.484G>A (p.Gly162Ser)
c.40-204G>A (n.40-204G>A)
c.223G>A (p.Gly75Ser)
 gnomAD v4
9g.124500477C>ACA467208082NR5A1c.483G>T (p.Leu161=)
c.40-205G>T (n.40-205G>T)
c.222G>T (p.Leu74=)
9g.124500477C=CA1878469034NR5A1c.483G= (p.Leu161=)
c.40-205G= (n.40-205G=)
c.222G= (p.Leu74=)
9g.124500477C>GCA467208083NR5A1c.483G>C (p.Leu161=)
c.40-205G>C (n.40-205G>C)
c.222G>C (p.Leu74=)
9g.124500477C>TCA5235457NR5A1c.483G>A (p.Leu161=)
c.40-205G>A (n.40-205G>A)
c.222G>A (p.Leu74=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500478A>CCA374887549NR5A1c.482T>G (p.Leu161Arg)
c.40-206T>G (n.40-206T>G)
c.221T>G (p.Leu74Arg)
 gnomAD v4
9g.124500478A>GCA374887556NR5A1c.482T>C (p.Leu161Pro)
c.40-206T>C (n.40-206T>C)
c.221T>C (p.Leu74Pro)
9g.124500478A>TCA374887559NR5A1c.482T>A (p.Leu161Gln)
c.40-206T>A (n.40-206T>A)
c.221T>A (p.Leu74Gln)
9g.124500479G>ACA467208084NR5A1c.481C>T (p.Leu161=)
c.40-207C>T (n.40-207C>T)
c.220C>T (p.Leu74=)
9g.124500479G>CCA374887565NR5A1c.481C>G (p.Leu161Val)
c.40-207C>G (n.40-207C>G)
c.220C>G (p.Leu74Val)
9g.124500479G>TCA374887568NR5A1c.481C>A (p.Leu161Met)
c.40-207C>A (n.40-207C>A)
c.220C>A (p.Leu74Met)
 gnomAD v4
9g.124500480T>ACA467208085NR5A1c.480A>T (p.Pro160=)
c.40-208A>T (n.40-208A>T)
c.219A>T (p.Pro73=)
9g.124500480T>CCA467208087NR5A1c.480A>G (p.Pro160=)
c.40-208A>G (n.40-208A>G)
c.219A>G (p.Pro73=)
9g.124500480T>GCA467208086NR5A1c.480A>C (p.Pro160=)
c.40-208A>C (n.40-208A>C)
c.219A>C (p.Pro73=)
9g.124500481G>ACA374887580NR5A1c.479C>T (p.Pro160Leu)
c.40-209C>T (n.40-209C>T)
c.218C>T (p.Pro73Leu)
9g.124500481G>CCA374887599NR5A1c.479C>G (p.Pro160Arg)
c.40-209C>G (n.40-209C>G)
c.218C>G (p.Pro73Arg)
9g.124500481G>TCA374887582NR5A1c.479C>A (p.Pro160Gln)
c.40-209C>A (n.40-209C>A)
c.218C>A (p.Pro73Gln)
9g.124500482G>ACA374887603NR5A1c.478C>T (p.Pro160Ser)
c.40-210C>T (n.40-210C>T)
c.217C>T (p.Pro73Ser)
 dbSNP gnomAD v2 gnomAD v4
9g.124500482G>CCA374887605NR5A1c.478C>G (p.Pro160Ala)
c.40-210C>G (n.40-210C>G)
c.217C>G (p.Pro73Ala)
9g.124500482G=CA1878469037NR5A1c.478C= (p.Pro160=)
c.40-210C= (n.40-210C=)
c.217C= (p.Pro73=)
9g.124500482G>TCA374887608NR5A1c.478C>A (p.Pro160Thr)
c.40-210C>A (n.40-210C>A)
c.217C>A (p.Pro73Thr)
9g.124500483C>ACA467208088NR5A1c.477G>T (p.Gly159=)
c.40-211G>T (n.40-211G>T)
c.216G>T (p.Gly72=)
9g.124500483C=CA1878469039NR5A1c.477G= (p.Gly159=)
c.40-211G= (n.40-211G=)
c.216G= (p.Gly72=)
9g.124500483C>GCA467208089NR5A1c.477G>C (p.Gly159=)
c.40-211G>C (n.40-211G>C)
c.216G>C (p.Gly72=)
9g.124500483C>TCA467208090NR5A1c.477G>A (p.Gly159=)
c.40-211G>A (n.40-211G>A)
c.216G>A (p.Gly72=)
 dbSNP gnomAD v3 gnomAD v4
9g.124500484C>ACA374887612NR5A1c.476G>T (p.Gly159Val)
c.40-212G>T (n.40-212G>T)
c.215G>T (p.Gly72Val)
9g.124500484C=CA1878469043NR5A1c.476G= (p.Gly159=)
c.40-212G= (n.40-212G=)
c.215G= (p.Gly72=)
9g.124500484C>GCA374887613NR5A1c.476G>C (p.Gly159Ala)
c.40-212G>C (n.40-212G>C)
c.215G>C (p.Gly72Ala)
9g.124500484C>TCA199728981NR5A1c.476G>A (p.Gly159Glu)
c.40-212G>A (n.40-212G>A)
c.215G>A (p.Gly72Glu)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
9g.124500485C>ACA374887614NR5A1c.475G>T (p.Gly159Trp)
c.40-213G>T (n.40-213G>T)
c.214G>T (p.Gly72Trp)
 gnomAD v4
9g.124500485C=CA1878469048NR5A1c.475G= (p.Gly159=)
c.40-213G= (n.40-213G=)
c.214G= (p.Gly72=)
9g.124500485C>GCA374887615NR5A1c.475G>C (p.Gly159Arg)
c.40-213G>C (n.40-213G>C)
c.214G>C (p.Gly72Arg)
9g.124500485C>TCA5235458NR5A1c.475G>A (p.Gly159Arg)
c.40-213G>A (n.40-213G>A)
c.214G>A (p.Gly72Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
9g.124500486A=CA1878469052NR5A1c.474T= (p.Ala158=)
c.40-214T= (n.40-214T=)
c.213T= (p.Ala71=)
9g.124500486A>CCA467208091NR5A1c.474T>G (p.Ala158=)
c.40-214T>G (n.40-214T>G)
c.213T>G (p.Ala71=)
 dbSNP
9g.124500486A>GCA467208092NR5A1c.474T>C (p.Ala158=)
c.40-214T>C (n.40-214T>C)
c.213T>C (p.Ala71=)
9g.124500486A>TCA467208093NR5A1c.474T>A (p.Ala158=)
c.40-214T>A (n.40-214T>A)
c.213T>A (p.Ala71=)
9g.124500487G>ACA374887622NR5A1c.473C>T (p.Ala158Val)
c.40-215C>T (n.40-215C>T)
c.212C>T (p.Ala71Val)
9g.124500487G>CCA374887627NR5A1c.473C>G (p.Ala158Gly)
c.40-215C>G (n.40-215C>G)
c.212C>G (p.Ala71Gly)
9g.124500487G>TCA374887631NR5A1c.473C>A (p.Ala158Asp)
c.40-215C>A (n.40-215C>A)
c.212C>A (p.Ala71Asp)

Number of alleles fetched