UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.30307936_30311263del | CA658653869 | ClinVar | ||
| X | g.30308484_30308534del | CA2695232183 | NR0B1 | c.834_884del (p.Pro279_Leu295del) | |
| X | g.30308516_30308533dup | CA2739290473 | NR0B1 | c.835_852dup (p.Leu284_Val285insProLeuAspGlnGlnLeu) | |
| X | g.30308529del | CA2695232188 | NR0B1 | c.838del (p.Leu280TrpfsTer?) | |
| X | g.30308529G>A | CA327976003 | NR0B1 | c.835C>T (p.Pro279Ser) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308529G>C | CA412547661 | NR0B1 | c.835C>G (p.Pro279Ala) | |
| X | g.30308529G= | CA2422040484 | NR0B1 | c.835C= (p.Pro279=) | |
| X | g.30308529G>T | CA412547663 | NR0B1 | c.835C>A (p.Pro279Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308532_30308534del | CA2695232189 | NR0B1 | c.833_835del (p.Leu278del) | |
| X | g.30308530C>A | CA515946378 | NR0B1 | c.834G>T (p.Leu278=) | |
| X | g.30308530C>G | CA515946379 | NR0B1 | c.834G>C (p.Leu278=) | |
| X | g.30308530C>T | CA515946380 | NR0B1 | c.834G>A (p.Leu278=) | gnomAD v4 |
| X | g.30308531A>C | CA412547667 | NR0B1 | c.833T>G (p.Leu278Arg) | |
| X | g.30308531A>G | CA412547668 | NR0B1 | c.833T>C (p.Leu278Pro) | ClinVar |
| X | g.30308531A>T | CA412547670 | NR0B1 | c.833T>A (p.Leu278Gln) | |
| X | g.30308532G>A | CA515946383 | NR0B1 | c.832C>T (p.Leu278=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308532G>C | CA412547672 | NR0B1 | c.832C>G (p.Leu278Val) | |
| X | g.30308532G= | CA2422040485 | NR0B1 | c.832C= (p.Leu278=) | |
| X | g.30308532G>T | CA412547674 | NR0B1 | c.832C>A (p.Leu278Met) | gnomAD v4 |
| X | g.30308533del | CA2695232190 | NR0B1 | c.831del (p.Leu278CysfsTer?) | |
| X | g.30308533C>A | CA515946402 | NR0B1 | c.831G>T (p.Val277=) | |
| X | g.30308533C= | CA2422040486 | NR0B1 | c.831G= (p.Val277=) | |
| X | g.30308533C>G | CA515946403 | NR0B1 | c.831G>C (p.Val277=) | |
| X | g.30308533C>T | CA515946404 | NR0B1 | c.831G>A (p.Val277=) | dbSNP gnomAD v2 |
| X | g.30308534A>C | CA412547677 | NR0B1 | c.830T>G (p.Val277Gly) | |
| X | g.30308534A>G | CA412547678 | NR0B1 | c.830T>C (p.Val277Ala) | |
| X | g.30308534A>T | CA412547680 | NR0B1 | c.830T>A (p.Val277Glu) | |
| X | g.30308535C>A | CA412547682 | NR0B1 | c.829G>T (p.Val277Leu) | |
| X | g.30308535C>G | CA412547684 | NR0B1 | c.829G>C (p.Val277Leu) | |
| X | g.30308535C>T | CA412547686 | NR0B1 | c.829G>A (p.Val277Met) | |
| X | g.30308536C>A | CA412547688 | NR0B1 | c.828G>T (p.Gln276His) | |
| X | g.30308536C>G | CA412547690 | NR0B1 | c.828G>C (p.Gln276His) | |
| X | g.30308536C>T | CA515946409 | NR0B1 | c.828G>A (p.Gln276=) | ClinVar |
| X | g.30308537T>A | CA412547694 | NR0B1 | c.827A>T (p.Gln276Leu) | gnomAD v4 |
| X | g.30308537T>C | CA412547700 | NR0B1 | c.827A>G (p.Gln276Arg) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308537T>G | CA412547696 | NR0B1 | c.827A>C (p.Gln276Pro) | |
| X | g.30308537T= | CA2422040487 | NR0B1 | c.827A= (p.Gln276=) | |
| X | g.30308538G>A | CA412547703 | NR0B1 | c.826C>T (p.Gln276Ter) | |
| X | g.30308538G>C | CA412547705 | NR0B1 | c.826C>G (p.Gln276Glu) | |
| X | g.30308538G>T | CA412547707 | NR0B1 | c.826C>A (p.Gln276Lys) | |
| X | g.30308539G>A | CA515946411 | NR0B1 | c.825C>T (p.Phe275=) | |
| X | g.30308539G>C | CA412547709 | NR0B1 | c.825C>G (p.Phe275Leu) | |
| X | g.30308539G>T | CA412547711 | NR0B1 | c.825C>A (p.Phe275Leu) | |
| X | g.30308540A>C | CA412547713 | NR0B1 | c.824T>G (p.Phe275Cys) | |
| X | g.30308540A>G | CA412547715 | NR0B1 | c.824T>C (p.Phe275Ser) | |
| X | g.30308540A>T | CA412547717 | NR0B1 | c.824T>A (p.Phe275Tyr) | |
| X | g.30308541A>C | CA412547719 | NR0B1 | c.823T>G (p.Phe275Val) | |
| X | g.30308541A>G | CA412547722 | NR0B1 | c.823T>C (p.Phe275Leu) | |
| X | g.30308541A>T | CA412547723 | NR0B1 | c.823T>A (p.Phe275Ile) | |
| X | g.30308542G>A | CA515946417 | NR0B1 | c.822C>T (p.Cys274=) | gnomAD v4 |
| X | g.30308542G>C | CA10376345 | NR0B1 | c.822C>G (p.Cys274Trp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308542G= | CA2422040488 | NR0B1 | c.822C= (p.Cys274=) | |
| X | g.30308542G>T | CA412547728 | NR0B1 | c.822C>A (p.Cys274Ter) | ClinVar dbSNP |
| X | g.30308543C>A | CA412547733 | NR0B1 | c.821G>T (p.Cys274Phe) | gnomAD v4 |
| X | g.30308543C>G | CA412547730 | NR0B1 | c.821G>C (p.Cys274Ser) | |
| X | g.30308543C>T | CA412547731 | NR0B1 | c.821G>A (p.Cys274Tyr) | gnomAD v4 |
| X | g.30308544A>C | CA412547736 | NR0B1 | c.820T>G (p.Cys274Gly) | |
| X | g.30308544A>G | CA412547738 | NR0B1 | c.820T>C (p.Cys274Arg) | |
| X | g.30308544A>T | CA412547739 | NR0B1 | c.820T>A (p.Cys274Ser) | |
| X | g.30308545G>A | CA515946423 | NR0B1 | c.819C>T (p.Pro273=) | |
| X | g.30308545G>C | CA515946424 | NR0B1 | c.819C>G (p.Pro273=) | |
| X | g.30308545G>T | CA515946425 | NR0B1 | c.819C>A (p.Pro273=) | gnomAD v4 |
| X | g.30308546G>A | CA412547742 | NR0B1 | c.818C>T (p.Pro273Leu) | |
| X | g.30308546G>C | CA412547744 | NR0B1 | c.818C>G (p.Pro273Arg) | |
| X | g.30308546G>T | CA412547746 | NR0B1 | c.818C>A (p.Pro273His) | |
| X | g.30308547G>A | CA412547748 | NR0B1 | c.817C>T (p.Pro273Ser) | |
| X | g.30308547G>C | CA412547750 | NR0B1 | c.817C>G (p.Pro273Ala) | |
| X | g.30308547G>T | CA412547751 | NR0B1 | c.817C>A (p.Pro273Thr) | gnomAD v4 |
| X | g.30308548C>A | CA412547753 | NR0B1 | c.816G>T (p.Leu272Phe) | |
| X | g.30308548C>G | CA412547755 | NR0B1 | c.816G>C (p.Leu272Phe) | |
| X | g.30308548C>T | CA515946428 | NR0B1 | c.816G>A (p.Leu272=) | COSMIC COSMIC |
| X | g.30308548_30308550del | CA2695232191 | NR0B1 | c.814_816del (p.Leu272del) | |
| X | g.30308549A>C | CA412547761 | NR0B1 | c.815T>G (p.Leu272Trp) | |
| X | g.30308549A>G | CA412547760 | NR0B1 | c.815T>C (p.Leu272Ser) | |
| X | g.30308549A>T | CA412547757 | NR0B1 | c.815T>A (p.Leu272Ter) | |
| X | g.30308550A>C | CA412547764 | NR0B1 | c.814T>G (p.Leu272Val) | |
| X | g.30308550A>G | CA515946432 | NR0B1 | c.814T>C (p.Leu272=) | |
| X | g.30308550A>T | CA412547765 | NR0B1 | c.814T>A (p.Leu272Met) | |
| X | g.30308551G>A | CA515946434 | NR0B1 | c.813C>T (p.Tyr271=) | |
| X | g.30308551G>C | CA255631 | NR0B1 | c.813C>G (p.Tyr271Ter) | ClinVar dbSNP |
| X | g.30308551G= | CA2422040489 | NR0B1 | c.813C= (p.Tyr271=) | |
| X | g.30308551G>T | CA412547768 | NR0B1 | c.813C>A (p.Tyr271Ter) | |
| X | g.30308552T>A | CA412547770 | NR0B1 | c.812A>T (p.Tyr271Phe) | |
| X | g.30308552T>C | CA412547772 | NR0B1 | c.812A>G (p.Tyr271Cys) | |
| X | g.30308552T>G | CA412547773 | NR0B1 | c.812A>C (p.Tyr271Ser) | |
| X | g.30308553A>C | CA412547775 | NR0B1 | c.811T>G (p.Tyr271Asp) | |
| X | g.30308553A>G | CA412547777 | NR0B1 | c.811T>C (p.Tyr271His) | |
| X | g.30308553A>T | CA412547779 | NR0B1 | c.811T>A (p.Tyr271Asn) | |
| X | g.30308554C>A | CA412547781 | NR0B1 | c.810G>T (p.Lys270Asn) | |
| X | g.30308554C>G | CA412547782 | NR0B1 | c.810G>C (p.Lys270Asn) | |
| X | g.30308554C>T | CA515946444 | NR0B1 | c.810G>A (p.Lys270=) | gnomAD v4 |
| X | g.30308555T>A | CA412547785 | NR0B1 | c.809A>T (p.Lys270Met) | |
| X | g.30308555T>C | CA412547788 | NR0B1 | c.809A>G (p.Lys270Arg) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308555T>G | CA412547790 | NR0B1 | c.809A>C (p.Lys270Thr) | |
| X | g.30308555T= | CA2422040490 | NR0B1 | c.809A= (p.Lys270=) | |
| X | g.30308556T>A | CA412547796 | NR0B1 | c.808A>T (p.Lys270Ter) | |
| X | g.30308556T>C | CA412547794 | NR0B1 | c.808A>G (p.Lys270Glu) | |
| X | g.30308556T>G | CA412547792 | NR0B1 | c.808A>C (p.Lys270Gln) | |
| X | g.30308557G>A | CA515946449 | NR0B1 | c.807C>T (p.Val269=) | |
| X | g.30308557G>C | CA515946448 | NR0B1 | c.807C>G (p.Val269=) | |
| X | g.30308557G>T | CA515946447 | NR0B1 | c.807C>A (p.Val269=) | |
| X | g.30308559_30308561del | CA2695232192 | NR0B1 | c.805_807del (p.Val269del) | |
| X | g.30308558A= | CA2422040491 | NR0B1 | c.806T= (p.Val269=) | |
| X | g.30308558A>C | CA412547798 | NR0B1 | c.806T>G (p.Val269Gly) | ClinVar dbSNP |
| X | g.30308558A>G | CA412547800 | NR0B1 | c.806T>C (p.Val269Ala) | |
| X | g.30308558A>T | CA412547801 | NR0B1 | c.806T>A (p.Val269Asp) | ClinVar dbSNP gnomAD v4 |
| X | g.30308559C>A | CA412547803 | NR0B1 | c.805G>T (p.Val269Phe) | |
| X | g.30308559C= | CA2422040492 | NR0B1 | c.805G= (p.Val269=) | |
| X | g.30308559C>G | CA10376346 | NR0B1 | c.805G>C (p.Val269Leu) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308559C>T | CA412547805 | NR0B1 | c.805G>A (p.Val269Ile) | gnomAD v4 |
| X | g.30308560G>A | CA10376347 | NR0B1 | c.804C>T (p.Phe268=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308560G>C | CA412547809 | NR0B1 | c.804C>G (p.Phe268Leu) | |
| X | g.30308560G= | CA2422040493 | NR0B1 | c.804C= (p.Phe268=) | |
| X | g.30308560G>T | CA412547811 | NR0B1 | c.804C>A (p.Phe268Leu) | gnomAD v4 |
| X | g.30308561A>C | CA412547814 | NR0B1 | c.803T>G (p.Phe268Cys) | |
| X | g.30308561A>G | CA412547815 | NR0B1 | c.803T>C (p.Phe268Ser) | |
| X | g.30308561A>T | CA412547818 | NR0B1 | c.803T>A (p.Phe268Tyr) | |
| X | g.30308562A>C | CA412547823 | NR0B1 | c.802T>G (p.Phe268Val) | |
| X | g.30308562A>G | CA412547825 | NR0B1 | c.802T>C (p.Phe268Leu) | |
| X | g.30308562A>T | CA412547820 | NR0B1 | c.802T>A (p.Phe268Ile) | |
| X | g.30308563G>A | CA515945989 | NR0B1 | c.801C>T (p.Arg267=) | ClinVar |
| X | g.30308563G>C | CA515945991 | NR0B1 | c.801C>G (p.Arg267=) | |
| X | g.30308563G>T | CA515945990 | NR0B1 | c.801C>A (p.Arg267=) | |
| X | g.30308564C>A | CA412547828 | NR0B1 | c.800G>T (p.Arg267Leu) | gnomAD v4 |
| X | g.30308564C= | CA2422039885 | NR0B1 | c.800G= (p.Arg267=) | |
| X | g.30308564C>G | CA255621 | NR0B1 | c.800G>C (p.Arg267Pro) | ClinVar dbSNP |
| X | g.30308564C>T | CA412547830 | NR0B1 | c.800G>A (p.Arg267His) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308565G>A | CA412547833 | NR0B1 | c.799C>T (p.Arg267Cys) | gnomAD v4 COSMIC |
| X | g.30308565G>C | CA412547834 | NR0B1 | c.799C>G (p.Arg267Gly) | |
| X | g.30308565G>T | CA412547836 | NR0B1 | c.799C>A (p.Arg267Ser) | |
| X | g.30308566C>A | CA515945995 | NR0B1 | c.798G>T (p.Leu266=) | |
| X | g.30308566C= | CA2422039886 | NR0B1 | c.798G= (p.Leu266=) | |
| X | g.30308566C>G | CA10376348 | NR0B1 | c.798G>C (p.Leu266=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308566C>T | CA515945997 | NR0B1 | c.798G>A (p.Leu266=) | |
| X | g.30308567A>C | CA412547839 | NR0B1 | c.797T>G (p.Leu266Arg) | |
| X | g.30308567A>G | CA412547841 | NR0B1 | c.797T>C (p.Leu266Pro) | ClinVar dbSNP |
| X | g.30308567A>T | CA412547843 | NR0B1 | c.797T>A (p.Leu266Gln) | |
| X | g.30308568G>A | CA515946003 | NR0B1 | c.796C>T (p.Leu266=) | |
| X | g.30308568G>C | CA412547844 | NR0B1 | c.796C>G (p.Leu266Val) | gnomAD v4 |
| X | g.30308568G>T | CA412547845 | NR0B1 | c.796C>A (p.Leu266Met) | |
| X | g.30308569C>A | CA515946005 | NR0B1 | c.795G>T (p.Thr265=) | |
| X | g.30308569C>G | CA515946006 | NR0B1 | c.795G>C (p.Thr265=) | gnomAD v4 |
| X | g.30308569C>T | CA515946008 | NR0B1 | c.795G>A (p.Thr265=) | gnomAD v4 |
| X | g.30308570G>A | CA412547848 | NR0B1 | c.794C>T (p.Thr265Met) | dbSNP gnomAD v2 COSMIC COSMIC |
| X | g.30308570G>C | CA412547850 | NR0B1 | c.794C>G (p.Thr265Arg) | |
| X | g.30308570G= | CA2422039887 | NR0B1 | c.794C= (p.Thr265=) | |
| X | g.30308570G>T | CA412547846 | NR0B1 | c.794C>A (p.Thr265Lys) | gnomAD v4 |
| X | g.30308570_30308571insGC | CA2695232195 | NR0B1 | c.793_794insGC (p.Thr265SerfsTer?) | |
| X | g.30308571del | CA2695232194 | NR0B1 | c.793del (p.Thr265ArgfsTer?) | |
| X | g.30308571T>A | CA412547852 | NR0B1 | c.793A>T (p.Thr265Ser) | |
| X | g.30308571T>C | CA412547854 | NR0B1 | c.793A>G (p.Thr265Ala) | |
| X | g.30308571T>G | CA412547856 | NR0B1 | c.793A>C (p.Thr265Pro) | |
| X | g.30308573_30308575del | CA2695232193 | NR0B1 | c.791_793del (p.Lys264del) | |
| X | g.30308572C>A | CA412547858 | NR0B1 | c.792G>T (p.Lys264Asn) | |
| X | g.30308572C>G | CA412547860 | NR0B1 | c.792G>C (p.Lys264Asn) | |
| X | g.30308572C>T | CA515946023 | NR0B1 | c.792G>A (p.Lys264=) | |
| X | g.30308573T>A | CA412547865 | NR0B1 | c.791A>T (p.Lys264Met) | |
| X | g.30308573T>C | CA412547861 | NR0B1 | c.791A>G (p.Lys264Arg) | gnomAD v4 |
| X | g.30308573T>G | CA412547863 | NR0B1 | c.791A>C (p.Lys264Thr) | |
| X | g.30308574T>A | CA412547867 | NR0B1 | c.790A>T (p.Lys264Ter) | |
| X | g.30308574T>C | CA412547868 | NR0B1 | c.790A>G (p.Lys264Glu) | |
| X | g.30308574T>G | CA412547869 | NR0B1 | c.790A>C (p.Lys264Gln) | |
| X | g.30308575C>A | CA412547870 | NR0B1 | c.789G>T (p.Leu263Phe) | |
| X | g.30308575C>G | CA412547871 | NR0B1 | c.789G>C (p.Leu263Phe) | |
| X | g.30308575C>T | CA515946027 | NR0B1 | c.789G>A (p.Leu263=) | |
| X | g.30308576A= | CA2422039889 | NR0B1 | c.788T= (p.Leu263=) | |
| X | g.30308576A>C | CA412547875 | NR0B1 | c.788T>G (p.Leu263Trp) | |
| X | g.30308576A>G | CA412547873 | NR0B1 | c.788T>C (p.Leu263Ser) | |
| X | g.30308576A>T | CA255619 | NR0B1 | c.788T>A (p.Leu263Ter) | ClinVar dbSNP |
| X | g.30308577A>C | CA412547877 | NR0B1 | c.787T>G (p.Leu263Val) | |
| X | g.30308577A>G | CA515946033 | NR0B1 | c.787T>C (p.Leu263=) | |
| X | g.30308577A>T | CA412547879 | NR0B1 | c.787T>A (p.Leu263Met) | |
| X | g.30308578C>A | CA515946035 | NR0B1 | c.786G>T (p.Leu262=) | |
| X | g.30308578C>G | CA515946036 | NR0B1 | c.786G>C (p.Leu262=) | |
| X | g.30308578C>T | CA515946040 | NR0B1 | c.786G>A (p.Leu262=) | |
| X | g.30308579A= | CA2422039890 | NR0B1 | c.785T= (p.Leu262=) | |
| X | g.30308579A>C | CA412547882 | NR0B1 | c.785T>G (p.Leu262Arg) | ClinVar dbSNP |
| X | g.30308579A>G | CA412547884 | NR0B1 | c.785T>C (p.Leu262Pro) | |
| X | g.30308579A>T | CA412547885 | NR0B1 | c.785T>A (p.Leu262Gln) | |
| X | g.30308580G>A | CA515946047 | NR0B1 | c.784C>T (p.Leu262=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308580G>C | CA412547888 | NR0B1 | c.784C>G (p.Leu262Val) | |
| X | g.30308580G= | CA2422039891 | NR0B1 | c.784C= (p.Leu262=) | |
| X | g.30308580G>T | CA412547889 | NR0B1 | c.784C>A (p.Leu262Met) | |
| X | g.30308581G>A | CA515946049 | NR0B1 | c.783C>T (p.Gly261=) | |
| X | g.30308581G>C | CA515946051 | NR0B1 | c.783C>G (p.Gly261=) | |
| X | g.30308581G>T | CA515946054 | NR0B1 | c.783C>A (p.Gly261=) | |
| X | g.30308582C>A | CA412547890 | NR0B1 | c.782G>T (p.Gly261Val) | |
| X | g.30308582C>G | CA412547891 | NR0B1 | c.782G>C (p.Gly261Ala) | |
| X | g.30308582C>T | CA412547893 | NR0B1 | c.782G>A (p.Gly261Asp) | |
| X | g.30308583C>A | CA412547894 | NR0B1 | c.781G>T (p.Gly261Cys) | |
| X | g.30308583C>G | CA412547896 | NR0B1 | c.781G>C (p.Gly261Arg) | |
| X | g.30308583C>T | CA412547898 | NR0B1 | c.781G>A (p.Gly261Ser) | |
| X | g.30308584C>A | CA10376349 | NR0B1 | c.780G>T (p.Ala260=) | dbSNP ExAC gnomAD v2 |
| X | g.30308584C= | CA2422039892 | NR0B1 | c.780G= (p.Ala260=) | |
| X | g.30308584C>G | CA10376350 | NR0B1 | c.780G>C (p.Ala260=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308584C>T | CA515946066 | NR0B1 | c.780G>A (p.Ala260=) | ClinVar |
| X | g.30308585G>A | CA10376351 | NR0B1 | c.779C>T (p.Ala260Val) | dbSNP ExAC |
| X | g.30308585G>C | CA412547902 | NR0B1 | c.779C>G (p.Ala260Gly) | |
| X | g.30308585G= | CA2422039893 | NR0B1 | c.779C= (p.Ala260=) | |
| X | g.30308585G>T | CA10376352 | NR0B1 | c.779C>A (p.Ala260Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308586C>A | CA412547903 | NR0B1 | c.778G>T (p.Ala260Ser) | |
| X | g.30308586C>G | CA412547904 | NR0B1 | c.778G>C (p.Ala260Pro) | |
| X | g.30308586C>T | CA412547905 | NR0B1 | c.778G>A (p.Ala260Thr) | |
| X | g.30308587T>A | CA515946080 | NR0B1 | c.777A>T (p.Ser259=) | |
| X | g.30308587T>C | CA10376353 | NR0B1 | c.777A>G (p.Ser259=) | ClinVar dbSNP ExAC gnomAD v4 |
| X | g.30308587T>G | CA515946081 | NR0B1 | c.777A>C (p.Ser259=) | |
| X | g.30308587T= | CA2422039894 | NR0B1 | c.777A= (p.Ser259=) | |
| X | g.30308588G>A | CA412547906 | NR0B1 | c.776C>T (p.Ser259Leu) | |
| X | g.30308588G>C | CA412547907 | NR0B1 | c.776C>G (p.Ser259Ter) | |
| X | g.30308588G>T | CA412547908 | NR0B1 | c.776C>A (p.Ser259Ter) | |
| X | g.30308589A>C | CA412547909 | NR0B1 | c.775T>G (p.Ser259Ala) | |
| X | g.30308589A>G | CA412547910 | NR0B1 | c.775T>C (p.Ser259Pro) | |
| X | g.30308589A>T | CA412547911 | NR0B1 | c.775T>A (p.Ser259Thr) | |
| X | g.30308590G>A | CA515946091 | NR0B1 | c.774C>T (p.Ala258=) | ClinVar |
| X | g.30308590G>C | CA515946092 | NR0B1 | c.774C>G (p.Ala258=) | |
| X | g.30308590G>T | CA515946093 | NR0B1 | c.774C>A (p.Ala258=) | |
| X | g.30308590_30308591dup | CA2695232196 | NR0B1 | c.773_774dup (p.Ser259ProfsTer6) | |
| X | g.30308591G>A | CA412547913 | NR0B1 | c.773C>T (p.Ala258Val) | gnomAD v4 |
| X | g.30308591G>C | CA412547914 | NR0B1 | c.773C>G (p.Ala258Gly) | |
| X | g.30308591G= | CA2422039895 | NR0B1 | c.773C= (p.Ala258=) | |
| X | g.30308591G>T | CA412547912 | NR0B1 | c.773C>A (p.Ala258Asp) | ClinVar dbSNP |
| X | g.30308591_30308592insGCCCGCTGAGGGT | CA2695232197 | NR0B1 | c.772_773insACCCTCAGCGGGC (p.Ala258AspfsTer?) | |
| X | g.30308592C>A | CA412547915 | NR0B1 | c.772G>T (p.Ala258Ser) | |
| X | g.30308592C= | CA2422039896 | NR0B1 | c.772G= (p.Ala258=) | |
| X | g.30308592C>G | CA412547916 | NR0B1 | c.772G>C (p.Ala258Pro) | |
| X | g.30308592C>T | CA412547917 | NR0B1 | c.772G>A (p.Ala258Thr) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308593T>A | CA515946104 | NR0B1 | c.771A>T (p.Ala257=) | |
| X | g.30308593T>C | CA515946105 | NR0B1 | c.771A>G (p.Ala257=) | |
| X | g.30308593T>G | CA515946107 | NR0B1 | c.771A>C (p.Ala257=) | |
| X | g.30308594G>A | CA412547918 | NR0B1 | c.770C>T (p.Ala257Val) | |
| X | g.30308594G>C | CA412547919 | NR0B1 | c.770C>G (p.Ala257Gly) | |
| X | g.30308594G>T | CA412547920 | NR0B1 | c.770C>A (p.Ala257Glu) | |
| X | g.30308595C>A | CA412547923 | NR0B1 | c.769G>T (p.Ala257Ser) | |
| X | g.30308595C= | CA2422039897 | NR0B1 | c.769G= (p.Ala257=) | |
| X | g.30308595C>G | CA412547921 | NR0B1 | c.769G>C (p.Ala257Pro) | gnomAD v4 |
| X | g.30308595C>T | CA412547922 | NR0B1 | c.769G>A (p.Ala257Thr) | dbSNP |
| X | g.30308596C>A | CA412547924 | NR0B1 | c.768G>T (p.Glu256Asp) | |
| X | g.30308596C>G | CA412547925 | NR0B1 | c.768G>C (p.Glu256Asp) | |
| X | g.30308596C>T | CA515946114 | NR0B1 | c.768G>A (p.Glu256=) | |
| X | g.30308597T>A | CA412547926 | NR0B1 | c.767A>T (p.Glu256Val) | |
| X | g.30308597T>C | CA412547927 | NR0B1 | c.767A>G (p.Glu256Gly) | gnomAD v4 COSMIC COSMIC |
| X | g.30308597T>G | CA412547928 | NR0B1 | c.767A>C (p.Glu256Ala) | |
| X | g.30308598C>A | CA412547929 | NR0B1 | c.766G>T (p.Glu256Ter) | |
| X | g.30308598C= | CA2422039900 | NR0B1 | c.766G= (p.Glu256=) | |
| X | g.30308598C>G | CA412547931 | NR0B1 | c.766G>C (p.Glu256Gln) | |
| X | g.30308598C>T | CA412547930 | NR0B1 | c.766G>A (p.Glu256Lys) | dbSNP |
| X | g.30308599del | CA2580100540 | NR0B1 | c.765del (p.Cys255TrpfsTer9) | ClinVar |
| X | g.30308599G>A | CA515946118 | NR0B1 | c.765C>T (p.Cys255=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308599G>C | CA412547932 | NR0B1 | c.765C>G (p.Cys255Trp) | |
| X | g.30308599G= | CA2422039907 | NR0B1 | c.765C= (p.Cys255=) | |
| X | g.30308599G>T | CA412547933 | NR0B1 | c.765C>A (p.Cys255Ter) | ClinVar dbSNP |
| X | g.30308600C>A | CA327976030 | NR0B1 | c.764G>T (p.Cys255Phe) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308600C= | CA2422039913 | NR0B1 | c.764G= (p.Cys255=) | |
| X | g.30308600C>G | CA412547934 | NR0B1 | c.764G>C (p.Cys255Ser) | |
| X | g.30308600C>T | CA412547935 | NR0B1 | c.764G>A (p.Cys255Tyr) | |
| X | g.30308601A>C | CA412547936 | NR0B1 | c.763T>G (p.Cys255Gly) | |
| X | g.30308601A>G | CA412547937 | NR0B1 | c.763T>C (p.Cys255Arg) | |
| X | g.30308601A>T | CA412547938 | NR0B1 | c.763T>A (p.Cys255Ser) | |
| X | g.30308602G>A | CA515946127 | NR0B1 | c.762C>T (p.Val254=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308602G>C | CA327976031 | NR0B1 | c.762C>G (p.Val254=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308602G= | CA2422039915 | NR0B1 | c.762C= (p.Val254=) | |
| X | g.30308602G>T | CA515946133 | NR0B1 | c.762C>A (p.Val254=) | |
| X | g.30308605_30308615del | CA2695232198 | NR0B1 | c.752_762del (p.Pro251LeufsTer?) | |
| X | g.30308603A>C | CA412547939 | NR0B1 | c.761T>G (p.Val254Gly) | |
| X | g.30308603A>G | CA412547940 | NR0B1 | c.761T>C (p.Val254Ala) | |
| X | g.30308603A>T | CA412547941 | NR0B1 | c.761T>A (p.Val254Asp) | |
| X | g.30308604C>A | CA412547943 | NR0B1 | c.760G>T (p.Val254Phe) | |
| X | g.30308604C>G | CA412547944 | NR0B1 | c.760G>C (p.Val254Leu) | gnomAD v4 |
| X | g.30308604C>T | CA412547942 | NR0B1 | c.760G>A (p.Val254Ile) | gnomAD v4 |
| X | g.30308605C>A | CA10376354 | NR0B1 | c.759G>T (p.Val253=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.30308605C= | CA2422039918 | NR0B1 | c.759G= (p.Val253=) | |
| X | g.30308605C>G | CA10376355 | NR0B1 | c.759G>C (p.Val253=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308605C>T | CA515946138 | NR0B1 | c.759G>A (p.Val253=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308606A>C | CA412547945 | NR0B1 | c.758T>G (p.Val253Gly) | |
| X | g.30308606A>G | CA412547947 | NR0B1 | c.758T>C (p.Val253Ala) | |
| X | g.30308606A>T | CA412547946 | NR0B1 | c.758T>A (p.Val253Glu) | |
| X | g.30308607C>A | CA412547948 | NR0B1 | c.757G>T (p.Val253Leu) | COSMIC COSMIC |
| X | g.30308607C>G | CA412547950 | NR0B1 | c.757G>C (p.Val253Leu) | |
| X | g.30308607C>T | CA412547949 | NR0B1 | c.757G>A (p.Val253Met) | |
| X | g.30308608C>A | CA412547951 | NR0B1 | c.756G>T (p.Gln252His) | |
| X | g.30308608C= | CA2422040494 | NR0B1 | c.756G= (p.Gln252=) | |
| X | g.30308608C>G | CA412547952 | NR0B1 | c.756G>C (p.Gln252His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308608C>T | CA515946157 | NR0B1 | c.756G>A (p.Gln252=) | ClinVar |
| X | g.30308610_30308618del | CA2529980778 | NR0B1 | c.748_756del (p.Ser250_Gln252del) | |
| X | g.30308609T>A | CA412547953 | NR0B1 | c.755A>T (p.Gln252Leu) | |
| X | g.30308609T>C | CA412547954 | NR0B1 | c.755A>G (p.Gln252Arg) | gnomAD v4 |
| X | g.30308609T>G | CA412547955 | NR0B1 | c.755A>C (p.Gln252Pro) | |
| X | g.30308609_30308610delinsTG | CA2422040495 | NR0B1 | c.754_755delinsCA (p.Gln252=) | |
| X | g.30308610del | CA658684288 | NR0B1 | c.754del (p.Gln252ArgfsTer12) | ClinVar dbSNP |
| X | g.30308610G>A | CA412547956 | NR0B1 | c.754C>T (p.Gln252Ter) | ClinVar |
| X | g.30308610G>C | CA412547957 | NR0B1 | c.754C>G (p.Gln252Glu) | |
| X | g.30308610G>T | CA412547958 | NR0B1 | c.754C>A (p.Gln252Lys) | gnomAD v4 |
| X | g.30308611T>A | CA515946164 | NR0B1 | c.753A>T (p.Pro251=) | |
| X | g.30308611T>C | CA10376356 | NR0B1 | c.753A>G (p.Pro251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308611T>G | CA515946165 | NR0B1 | c.753A>C (p.Pro251=) | |
| X | g.30308611T= | CA2422040496 | NR0B1 | c.753A= (p.Pro251=) | |
| X | g.30308612G>A | CA412547959 | NR0B1 | c.752C>T (p.Pro251Leu) | |
| X | g.30308612G>C | CA412547960 | NR0B1 | c.752C>G (p.Pro251Arg) | |
| X | g.30308612G>T | CA412547961 | NR0B1 | c.752C>A (p.Pro251Gln) | |
| X | g.30308613G>A | CA412547964 | NR0B1 | c.751C>T (p.Pro251Ser) | |
| X | g.30308613G>C | CA412547962 | NR0B1 | c.751C>G (p.Pro251Ala) | |
| X | g.30308613G>T | CA412547963 | NR0B1 | c.751C>A (p.Pro251Thr) | gnomAD v4 |
| X | g.30308614A>C | CA412547965 | NR0B1 | c.750T>G (p.Ser250Arg) | |
| X | g.30308614A>G | CA515946169 | NR0B1 | c.750T>C (p.Ser250=) | |
| X | g.30308614A>T | CA412547966 | NR0B1 | c.750T>A (p.Ser250Arg) | |
| X | g.30308615C>A | CA412547967 | NR0B1 | c.749G>T (p.Ser250Ile) | gnomAD v4 |
| X | g.30308615C>G | CA412547968 | NR0B1 | c.749G>C (p.Ser250Thr) | |
| X | g.30308615C>T | CA412547969 | NR0B1 | c.749G>A (p.Ser250Asn) | |
| X | g.30308616T>A | CA412547970 | NR0B1 | c.748A>T (p.Ser250Cys) | |
| X | g.30308616T>C | CA412547971 | NR0B1 | c.748A>G (p.Ser250Gly) | dbSNP |
| X | g.30308616T>G | CA412547972 | NR0B1 | c.748A>C (p.Ser250Arg) | |
| X | g.30308616T= | CA2422040497 | NR0B1 | c.748A= (p.Ser250=) | |
| X | g.30308617C>A | CA412547973 | NR0B1 | c.747G>T (p.Lys249Asn) | gnomAD v4 |
| X | g.30308617C>G | CA412547974 | NR0B1 | c.747G>C (p.Lys249Asn) | |
| X | g.30308617C>T | CA515946179 | NR0B1 | c.747G>A (p.Lys249=) | |
| X | g.30308617_30308619delinsCTT | CA2422040498 | NR0B1 | c.745_747delinsAAG (p.Lys249=) | |
| X | g.30308618T>A | CA412547977 | NR0B1 | c.746A>T (p.Lys249Met) | |
| X | g.30308618T>C | CA412547976 | NR0B1 | c.746A>G (p.Lys249Arg) | |
| X | g.30308618T>G | CA412547975 | NR0B1 | c.746A>C (p.Lys249Thr) | |
| X | g.30308618_30308619del | CA16621356 | NR0B1 | c.745_746del (p.Lys249GlufsTer?) | ClinVar dbSNP |
| X | g.30308619T>A | CA412547978 | NR0B1 | c.745A>T (p.Lys249Ter) | |
| X | g.30308619T>C | CA412547979 | NR0B1 | c.745A>G (p.Lys249Glu) | gnomAD v4 |
| X | g.30308619T>G | CA412547980 | NR0B1 | c.745A>C (p.Lys249Gln) | |
| X | g.30308620G>A | CA515946182 | NR0B1 | c.744C>T (p.Leu248=) | |
| X | g.30308620G>C | CA515946183 | NR0B1 | c.744C>G (p.Leu248=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308620G= | CA2422040499 | NR0B1 | c.744C= (p.Leu248=) | |
| X | g.30308620G>T | CA515946184 | NR0B1 | c.744C>A (p.Leu248=) | |
| X | g.30308621A= | CA2422040500 | NR0B1 | c.743T= (p.Leu248=) | |
| X | g.30308621A>C | CA412547981 | NR0B1 | c.743T>G (p.Leu248Arg) | gnomAD v4 |
| X | g.30308621A>G | CA412547982 | NR0B1 | c.743T>C (p.Leu248Pro) | dbSNP |
| X | g.30308621A>T | CA412547983 | NR0B1 | c.743T>A (p.Leu248His) | |
| X | g.30308622G>A | CA412547984 | NR0B1 | c.742C>T (p.Leu248Phe) | |
| X | g.30308622G>C | CA412547985 | NR0B1 | c.742C>G (p.Leu248Val) | |
| X | g.30308622G>T | CA412547986 | NR0B1 | c.742C>A (p.Leu248Ile) | |
| X | g.30308623C>A | CA515946189 | NR0B1 | c.741G>T (p.Ala247=) | |
| X | g.30308623C>G | CA515946190 | NR0B1 | c.741G>C (p.Ala247=) | |
| X | g.30308623C>T | CA515946193 | NR0B1 | c.741G>A (p.Ala247=) | |
| X | g.30308624G>A | CA10376357 | NR0B1 | c.740C>T (p.Ala247Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.30308624G>C | CA412547987 | NR0B1 | c.740C>G (p.Ala247Gly) | |
| X | g.30308624G= | CA2422040501 | NR0B1 | c.740C= (p.Ala247=) | |
| X | g.30308624G>T | CA412547988 | NR0B1 | c.740C>A (p.Ala247Glu) | ClinVar gnomAD v4 |
| X | g.30308627_30308633del | CA2695232199 | NR0B1 | c.734_740del (p.Pro245ArgfsTer17) | |
| X | g.30308625C>A | CA412547991 | NR0B1 | c.739G>T (p.Ala247Ser) | |
| X | g.30308625C>G | CA412547989 | NR0B1 | c.739G>C (p.Ala247Pro) | |
| X | g.30308625C>T | CA412547990 | NR0B1 | c.739G>A (p.Ala247Thr) | |
| X | g.30308626C>A | CA515946201 | NR0B1 | c.738G>T (p.Val246=) | |
| X | g.30308626C= | CA2422040502 | NR0B1 | c.738G= (p.Val246=) | |
| X | g.30308626C>G | CA515946196 | NR0B1 | c.738G>C (p.Val246=) | |
| X | g.30308626C>T | CA515946195 | NR0B1 | c.738G>A (p.Val246=) | dbSNP gnomAD v2 gnomAD v4 |
| X | g.30308627A>C | CA412547992 | NR0B1 | c.737T>G (p.Val246Gly) | |
| X | g.30308627A>G | CA412547993 | NR0B1 | c.737T>C (p.Val246Ala) | |
| X | g.30308627A>T | CA412547994 | NR0B1 | c.737T>A (p.Val246Glu) | |
| X | g.30308628C>A | CA412547995 | NR0B1 | c.736G>T (p.Val246Leu) | |
| X | g.30308628C>G | CA412547996 | NR0B1 | c.736G>C (p.Val246Leu) | |
| X | g.30308628C>T | CA412547997 | NR0B1 | c.736G>A (p.Val246Met) | |
| X | g.30308629C>A | CA515946207 | NR0B1 | c.735G>T (p.Pro245=) | gnomAD v4 |
| X | g.30308629C= | CA2422040503 | NR0B1 | c.735G= (p.Pro245=) | |
| X | g.30308629C>G | CA327976047 | NR0B1 | c.735G>C (p.Pro245=) | dbSNP gnomAD v3 gnomAD v4 |
| X | g.30308629C>T | CA515946206 | NR0B1 | c.735G>A (p.Pro245=) | ClinVar gnomAD v4 COSMIC COSMIC |