Unique variants in gene CBX3

Information The variants shown are described using the NM_007276.4 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-28-45T>C r.(=) p.(=) g.26242546T>C Copied from the Exome Variant Server CBX3_000002 9/4566 8/3182 1/1384
1 c.-28-14A>T r.(=) p.(=) g.26242577A>T Copied from the Exome Variant Server CBX3_000004 3/13004 1/8598 2/4406
1 c.-26A>G r.(=) p.(=) g.26242593A>G Copied from the Exome Variant Server CBX3_000006 1/13004 0/8598 1/4406
1 c.-17C>A r.(=) p.(=) g.26242602C>A Copied from the Exome Variant Server CBX3_000007 1/13004 1/8598 0/4406
1 c.-13del r.(=) p.(=) g.26242606del Copied from the Exome Variant Server CBX3_000001 1/12516 0/8252 1/4264
1 c.-9C>T r.(=) p.(=) g.26242610C>T Copied from the Exome Variant Server CBX3_000003 1/13004 1/8598 0/4406
1 c.24+19A>G r.(=) p.(=) g.26242661A>G Copied from the Exome Variant Server CBX3_000005 1/13000 1/8596 0/4404
1 c.24+27T>G r.(=) p.(=) g.26242669T>G Copied from the Exome Variant Server CBX3_000008 2/13000 0/8596 2/4404
1 c.24+41_24+42del r.(=) p.(=) g.26242683_26242684del Copied from the Exome Variant Server CBX3_000009 1/12508 1/8246 0/4262
1 c.24+44del r.(=) p.(=) g.26242686del Copied from the Exome Variant Server CBX3_000010 8/12508 4/8244 4/4264
1 c.24+59G>C r.(=) p.(=) g.26242701G>C Copied from the Exome Variant Server CBX3_000011 1/4562 1/3178 0/1384
1 c.24+76_24+77del r.(=) p.(=) g.26242718_26242719del Copied from the Exome Variant Server CBX3_000012 2/12484 0/8238 2/4246
1 c.25-49T>C r.(=) p.(=) g.26245939T>C Copied from the Exome Variant Server CBX3_000013 1/12782 1/8508 0/4274
1 c.64G>A r.(?) p.(Val22Ile) g.26246027G>A Copied from the Exome Variant Server CBX3_000014 2/13006 2/8600 0/4406
1 c.167+12T>C r.(=) p.(=) g.26246142T>C Copied from the Exome Variant Server CBX3_000015 6/13006 0/8600 6/4406
1 c.167+13A>T r.(=) p.(=) g.26246143A>T Copied from the Exome Variant Server CBX3_000016 2/13006 0/8600 2/4406
1 c.167+21T>C r.(=) p.(=) g.26246151T>C Copied from the Exome Variant Server CBX3_000017 1/13006 1/8600 0/4406
1 c.167+27A>G r.(=) p.(=) g.26246157A>G Copied from the Exome Variant Server CBX3_000018 1/13006 1/8600 0/4406
1 c.167+49G>T r.(=) p.(=) g.26246179G>T Copied from the Exome Variant Server CBX3_000019 2/13006 0/8600 2/4406
1 c.168-51G>T r.(=) p.(=) g.26247962G>T Copied from the Exome Variant Server CBX3_000020 1/12732 1/8490 0/4242
1 c.168-37T>G r.(=) p.(=) g.26247976T>G Copied from the Exome Variant Server CBX3_000021 2/12846 2/8540 0/4306
1 c.168-34A>G r.(=) p.(=) g.26247979A>G Copied from the Exome Variant Server CBX3_000022 1/12864 1/8546 0/4318
1 c.168-30del r.(=) p.(=) g.26247983del Copied from the Exome Variant Server CBX3_000023 10/12368 4/8196 6/4172
1 c.168-29_168-27del r.(=) p.(=) g.26247984_26247986del Copied from the Exome Variant Server CBX3_000024 3/12374 0/8198 3/4176
1 c.261T>C r.(=) p.(=) g.26248106T>C Copied from the Exome Variant Server CBX3_000025 1/13002 0/8598 1/4404
1 c.294A>G r.(=) p.(=) g.26248139A>G Copied from the Exome Variant Server CBX3_000026 9/12998 9/8598 0/4400
1 c.303C>T r.(=) p.(=) g.26248148C>T Copied from the Exome Variant Server CBX3_000027 1/12994 0/8596 1/4398
1 c.330+46T>G r.(=) p.(=) g.26248221T>G Copied from the Exome Variant Server CBX3_000028 1/12806 1/8526 0/4280
1 c.331-50A>C r.(=) p.(=) g.26251232A>C Copied from the Exome Variant Server CBX3_000029 2/13006 2/8600 0/4406
1 c.331-42A>G r.(=) p.(=) g.26251240A>G Copied from the Exome Variant Server CBX3_000030 1/13006 1/8600 0/4406
1 c.331-36_331-35insTT r.(=) p.(=) g.26251246_26251247insTT Copied from the Exome Variant Server CBX3_000031 4/12518 0/8254 4/4264
1 c.425+7A>G r.(=) p.(=) g.26251383A>G Copied from the Exome Variant Server CBX3_000032 1/13006 1/8600 0/4406
1 c.425+22C>T r.(=) p.(=) g.26251398C>T Copied from the Exome Variant Server CBX3_000033 1/13006 0/8600 1/4406
1 c.425+47T>C r.(=) p.(=) g.26251423T>C Copied from the Exome Variant Server CBX3_000034 6/13006 0/8600 6/4406
1 c.426-20_426-2del r.spl? p.? g.26251682_26251700del Copied from the Exome Variant Server CBX3_000035 32/12516 19/8252 13/4264
1 c.472A>G r.(?) p.(Met158Val) g.26251748A>G Copied from the Exome Variant Server CBX3_000036 1/13006 1/8600 0/4406
1 c.502T>A r.(?) p.(Tyr168Asn) g.26251778T>A Copied from the Exome Variant Server CBX3_000037 1/13004 0/8598 1/4406
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