Unique variants in gene NR0B1

Information The variants shown are described using the NM_000475.4 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.39_40insCTC r.(?) p.(Leu13dup) g.30327441_30327442insGAG Copied from the Exome Variant Server NR0B1_000043 7/9086 5/5807 2/3279
1 c.114C>T r.(=) p.(=) g.30327367G>A Copied from the Exome Variant Server NR0B1_000042 1479/10382 1325/6621 154/3761
1 c.138G>A r.(=) p.(=) g.30327343C>T Copied from the Exome Variant Server NR0B1_000041 1/10499 0/6694 1/3805
1 c.142G>C r.(?) p.(Gly48Arg) g.30327339C>G Copied from the Exome Variant Server NR0B1_000040 1/10499 1/6696 0/3803
1 c.174G>A r.(=) p.(=) g.30327307C>T Copied from the Exome Variant Server NR0B1_000039 1/10537 1/6713 0/3824
1 c.216C>T r.(=) p.(=) g.30327265G>A Copied from the Exome Variant Server NR0B1_000038 1/10546 1/6718 0/3828
1 c.219C>T r.(=) p.(=) g.30327262G>A Copied from the Exome Variant Server NR0B1_000037 1/10537 0/6711 1/3826
1 c.229G>A r.(?) p.(Gly77Ser) g.30327252C>T Copied from the Exome Variant Server NR0B1_000036 1/10535 0/6710 1/3825
1 c.290C>T r.(?) p.(Pro97Leu) g.30327191G>A Copied from the Exome Variant Server NR0B1_000035 2/10539 0/6715 2/3824
1 c.307C>T r.(?) p.(Pro103Ser) g.30327174G>A Copied from the Exome Variant Server NR0B1_000034 1/10533 1/6712 0/3821
1 c.308C>T r.(?) p.(Pro103Leu) g.30327173G>A Copied from the Exome Variant Server NR0B1_000033 1/10534 1/6713 0/3821
1 c.324G>A r.(=) p.(=) g.30327157C>T Copied from the Exome Variant Server NR0B1_000032 2/10539 0/6712 2/3827
1 c.498G>A r.(=) p.(=) g.30326983C>T Copied from the Exome Variant Server NR0B1_000031 2977/10527 1320/6708 1657/3819
1 c.521G>C r.(?) p.(Arg174Pro) g.30326960C>G Copied from the Exome Variant Server NR0B1_000030 1/10535 0/6709 1/3826
1 c.525C>T r.(=) p.(=) g.30326956G>A Copied from the Exome Variant Server NR0B1_000029 1/10533 0/6709 1/3824
1 c.572G>A r.(?) p.(Arg191Gln) g.30326909C>T Copied from the Exome Variant Server NR0B1_000028 1/10451 1/6649 0/3802
1 c.588G>A r.(=) p.(=) g.30326893C>T Copied from the Exome Variant Server NR0B1_000027 29/10435 0/6647 29/3788
1 c.606C>T r.(=) p.(=) g.30326875G>A Copied from the Exome Variant Server NR0B1_000026 2/10432 2/6641 0/3791
1 c.753A>G r.(=) p.(=) g.30326728T>C Copied from the Exome Variant Server NR0B1_000025 1/10398 1/6624 0/3774
1 c.762C>G r.(=) p.(=) g.30326719G>C Copied from the Exome Variant Server NR0B1_000024 1/10385 0/6622 1/3763
1 c.798G>C r.(=) p.(=) g.30326683C>G Copied from the Exome Variant Server NR0B1_000023 1/10470 1/6666 0/3804
1 c.805G>C r.(?) p.(Val269Leu) g.30326676C>G Copied from the Exome Variant Server NR0B1_000022 1/10484 1/6667 0/3817
1 c.870C>T r.(=) p.(=) g.30326611G>A Copied from the Exome Variant Server NR0B1_000021 12/10504 0/6695 12/3809
1 c.912G>A r.(=) p.(=) g.30326569C>T Copied from the Exome Variant Server NR0B1_000020 1/10520 1/6703 0/3817
1 c.939G>C r.(?) p.(Glu313Asp) g.30326542C>G Copied from the Exome Variant Server NR0B1_000019 1/10543 0/6719 1/3824
1 c.973C>T r.(?) p.(Arg325Trp) g.30326508G>A Copied from the Exome Variant Server NR0B1_000018 1/10551 1/6723 0/3828
1 c.979G>A r.(?) p.(Glu327Lys) g.30326502C>T Copied from the Exome Variant Server NR0B1_000017 1/10551 1/6726 0/3825
1 c.1004C>A r.(?) p.(Pro335His) g.30326477G>T Copied from the Exome Variant Server NR0B1_000016 1/10549 1/6721 0/3828
1 c.1029G>A r.(=) p.(=) g.30326452C>T Copied from the Exome Variant Server NR0B1_000015 54/10560 2/6727 52/3833
1 c.1033C>A r.(?) p.(Pro345Thr) g.30326448G>T Copied from the Exome Variant Server NR0B1_000014 1/10560 0/6727 1/3833
1 c.1062C>A r.(=) p.(=) g.30326419G>T Copied from the Exome Variant Server NR0B1_000013 1/10561 1/6728 0/3833
1 c.1168+6G>A r.(=) p.(=) g.30326307C>T Copied from the Exome Variant Server NR0B1_000012 1/10561 0/6728 1/3833
1 c.1168+22G>C r.(=) p.(=) g.30326291C>G Copied from the Exome Variant Server NR0B1_000011 1/10561 1/6728 0/3833
1 c.1168+51G>A r.(=) p.(=) g.30326262C>T Copied from the Exome Variant Server NR0B1_000010 1/10561 1/6728 0/3833
1 c.1169-1008A>C r.(=) p.(=) g.30323948T>G Copied from the Exome Variant Server NR0B1_000009 996/4510 765/3095 231/1415
1 c.1169-976A>C r.(=) p.(=) g.30323916T>G Copied from the Exome Variant Server NR0B1_000008 1438/4510 570/3097 868/1413
1 c.1198A>G r.(?) p.(Ile400Val) g.30322911T>C Copied from the Exome Variant Server NR0B1_000007 1/10561 1/6728 0/3833
1 c.1234A>G r.(?) p.(Ser412Gly) g.30322875T>C Copied from the Exome Variant Server NR0B1_000006 1/10561 1/6728 0/3833
1 c.1245C>G r.(=) p.(=) g.30322864G>C Copied from the Exome Variant Server NR0B1_000005 3/10561 0/6728 3/3833
1 c.1253C>T r.(?) p.(Thr418Met) g.30322856G>A Copied from the Exome Variant Server NR0B1_000004 3/10561 2/6728 1/3833
1 c.1410A>G r.(?) p.(Ile470Met) g.30322699T>C Copied from the Exome Variant Server NR0B1_000003 8/10561 8/6728 0/3833
1 c.*34T>A r.(=) p.(=) g.30322662A>T Copied from the Exome Variant Server NR0B1_000002 1/10561 1/6728 0/3833
1 c.*40A>G r.(=) p.(=) g.30322656T>C Copied from the Exome Variant Server NR0B1_000001 31/10561 0/6728 31/3833
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