Unique variants in gene BRS3

Information The variants shown are described using the NM_001727.1 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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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.-38G>A r.(=) p.(=) g.135570236G>A Copied from the Exome Variant Server BRS3_000001 1/10563 1/6728 0/3835
1 c.43T>A r.(?) p.(Ser15Thr) g.135570316T>A Copied from the Exome Variant Server BRS3_000002 2/10563 2/6728 0/3835
1 c.76G>T r.(?) p.(Val26Leu) g.135570349G>T Copied from the Exome Variant Server BRS3_000003 1/10563 1/6728 0/3835
1 c.87C>T r.(=) p.(=) g.135570360C>T Copied from the Exome Variant Server BRS3_000004 1/10563 1/6728 0/3835
1 c.112G>A r.(?) p.(Gly38Arg) g.135570385G>A Copied from the Exome Variant Server BRS3_000005 1/10563 0/6728 1/3835
1 c.113G>A r.(?) p.(Gly38Glu) g.135570386G>A Copied from the Exome Variant Server BRS3_000006 1/10563 1/6728 0/3835
1 c.124C>T r.(?) p.(Pro42Ser) g.135570397C>T Copied from the Exome Variant Server BRS3_000007 1/10563 0/6728 1/3835
1 c.169A>G r.(?) p.(Ile57Val) g.135570442A>G Copied from the Exome Variant Server BRS3_000008 1/10563 0/6728 1/3835
1 c.171C>A r.(=) p.(=) g.135570444C>A Copied from the Exome Variant Server BRS3_000009 9/10563 0/6728 9/3835
1 c.267G>A r.(=) p.(=) g.135570540G>A Copied from the Exome Variant Server BRS3_000027 1/10563 1/6728 0/3835
1 c.434+38A>C r.(=) p.(=) g.135570745A>C Copied from the Exome Variant Server BRS3_000028 1/10562 1/6727 0/3835
1 c.434+52G>A r.(=) p.(=) g.135570759G>A Copied from the Exome Variant Server BRS3_000029 59/6030 3/3617 56/2413
1 c.435-40A>G r.(=) p.(=) g.135572252A>G Copied from the Exome Variant Server BRS3_000030 2/10563 0/6728 2/3835
1 c.435-38A>G r.(=) p.(=) g.135572254A>G Copied from the Exome Variant Server BRS3_000031 1/10563 1/6728 0/3835
1 c.435-11_435-10del r.(=) p.(=) g.135572281_135572282del Copied from the Exome Variant Server BRS3_000032 1/10205 1/6484 0/3721
1 c.640C>G r.(?) p.(Gln214Glu) g.135572497C>G Copied from the Exome Variant Server BRS3_000033 1/10563 1/6728 0/3835
1 c.744C>T r.(=) p.(=) g.135572601C>T Copied from the Exome Variant Server BRS3_000034 1/10559 1/6724 0/3835
1 c.779G>A r.(?) p.(Arg260His) g.135572636G>A Copied from the Exome Variant Server BRS3_000035 1/10549 1/6716 0/3833
1 c.786+46G>A r.(=) p.(=) g.135572689G>A Copied from the Exome Variant Server BRS3_000036 1/10482 1/6655 0/3827
1 c.787-48_787-47insG r.(=) p.(=) g.135574073_135574074insG Copied from the Exome Variant Server BRS3_000038 336/10069 113/6398 223/3671
1 c.787-48_787-47insGTTG r.(=) p.(=) g.135574073_135574074insGTTG Copied from the Exome Variant Server BRS3_000039 20/10069 2/6398 18/3671
1 c.787-48_787-47insGTTTT r.(=) p.(=) g.135574073_135574074insGTTTT Copied from the Exome Variant Server BRS3_000037 341/10063 109/6394 232/3669
1 c.787-48_787-46del r.(=) p.(=) g.135574073_135574075del Copied from the Exome Variant Server BRS3_000040 116/10063 63/6394 53/3669
1 c.787-46_787-45insTTTTT r.(=) p.(=) g.135574075_135574076insTTTTT Copied from the Exome Variant Server BRS3_000041 6734/10063 4403/6394 2331/3669
1 c.787-20_787-19del r.(=) p.(=) g.135574101_135574102del Copied from the Exome Variant Server BRS3_000010 3/10205 1/6484 2/3721
1 c.812G>A r.(?) p.(Arg271Lys) g.135574146G>A Copied from the Exome Variant Server BRS3_000011 1/10563 1/6728 0/3835
1 c.930T>C r.(=) p.(=) g.135574264T>C Copied from the Exome Variant Server BRS3_000012 39/10563 0/6728 39/3835
1 c.936C>G r.(=) p.(=) g.135574270C>G Copied from the Exome Variant Server BRS3_000013 1/10563 1/6728 0/3835
1 c.947G>A r.(?) p.(Arg316Gln) g.135574281G>A Copied from the Exome Variant Server BRS3_000014 1/10563 0/6728 1/3835
1 c.1032G>T r.(?) p.(Gln344His) g.135574366G>T Copied from the Exome Variant Server BRS3_000015 8/10563 0/6728 8/3835
1 c.1053G>A r.(=) p.(=) g.135574387G>A Copied from the Exome Variant Server BRS3_000016 6/10563 6/6728 0/3835
1 c.1054C>T r.(?) p.(Arg352Trp) g.135574388C>T Copied from the Exome Variant Server BRS3_000017 7/10563 7/6728 0/3835
1 c.1055G>A r.(?) p.(Arg352Gln) g.135574389G>A Copied from the Exome Variant Server BRS3_000018 1/10563 0/6728 1/3835
1 c.1093C>T r.(=) p.(=) g.135574427C>T Copied from the Exome Variant Server BRS3_000019 1/10563 1/6728 0/3835
1 c.1099G>A r.(?) p.(Val367Met) g.135574433G>A Copied from the Exome Variant Server BRS3_000020 2/10563 1/6728 1/3835
1 c.1117G>A r.(?) p.(Gly373Ser) g.135574451G>A Copied from the Exome Variant Server BRS3_000021 1/10563 1/6728 0/3835
1 c.1157C>T r.(?) p.(Ser386Leu) g.135574491C>T Copied from the Exome Variant Server BRS3_000022 1/10563 0/6728 1/3835
1 c.*1C>A r.(=) p.(=) g.135574535C>A Copied from the Exome Variant Server BRS3_000023 2/10554 0/6721 2/3833
1 c.*17G>A r.(=) p.(=) g.135574551G>A Copied from the Exome Variant Server BRS3_000024 1/10541 0/6710 1/3831
1 c.*35G>A r.(=) p.(=) g.135574569G>A Copied from the Exome Variant Server BRS3_000025 4/10425 4/6622 0/3803
1 c.*45G>A r.(=) p.(=) g.135574579G>A Copied from the Exome Variant Server BRS3_000026 1/10271 1/6499 0/3772
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