Unique variants in gene CENPQ

Information The variants shown are described using the NM_018132.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.34G>A r.(?) p.(Ala12Thr) g.49437923G>A Copied from the Exome Variant Server CENPQ_000001 2/13004 0/8600 2/4404
1 c.102del r.(?) p.(Val35Leufs*5) g.49437991del Copied from the Exome Variant Server CENPQ_000003 1/12516 1/8254 0/4262
1 c.102+14C>T r.(=) p.(=) g.49438005C>T Copied from the Exome Variant Server CENPQ_000005 1/13004 0/8600 1/4404
1 c.102+39A>G r.(=) p.(=) g.49438030A>G Copied from the Exome Variant Server CENPQ_000007 1/12994 1/8600 0/4394
1 c.102+42G>T r.(=) p.(=) g.49438033G>T Copied from the Exome Variant Server CENPQ_000009 8/12984 0/8600 8/4384
1 c.103-21del r.(=) p.(=) g.49438666del Copied from the Exome Variant Server CENPQ_000011 1/12472 1/8216 0/4256
1 c.157+7del r.(=) p.(=) g.49438748del Copied from the Exome Variant Server CENPQ_000013 1/12484 1/8234 0/4250
1 c.158-27C>G r.(=) p.(=) g.49439749C>G Copied from the Exome Variant Server CENPQ_000002 2/13006 2/8600 0/4406
1 c.158-20T>C r.(=) p.(=) g.49439756T>C Copied from the Exome Variant Server CENPQ_000004 1/13006 1/8600 0/4406
1 c.158-6C>T r.(=) p.(=) g.49439770C>T Copied from the Exome Variant Server CENPQ_000006 2/13006 2/8600 0/4406
1 c.172A>G r.(?) p.(Thr58Ala) g.49439790A>G Copied from the Exome Variant Server CENPQ_000008 49/13006 0/8600 49/4406
1 c.187G>A r.(?) p.(Gly63Arg) g.49439805G>A Copied from the Exome Variant Server CENPQ_000010 4882/13006 3158/8600 1724/4406
1 c.192G>C r.(?) p.(Lys64Asn) g.49439810G>C Copied from the Exome Variant Server CENPQ_000012 1/13006 1/8600 0/4406
1 c.223C>G r.(?) p.(Pro75Ala) g.49439841C>G Copied from the Exome Variant Server CENPQ_000014 2/13006 0/8600 2/4406
1 c.290G>A r.(?) p.(Ser97Asn) g.49440514G>A Copied from the Exome Variant Server CENPQ_000015 1/12460 1/8298 0/4162
1 c.347+14A>G r.(=) p.(=) g.49440585A>G Copied from the Exome Variant Server CENPQ_000016 1/12596 0/8370 1/4226
1 c.347+28T>A r.(=) p.(=) g.49440599T>A Copied from the Exome Variant Server CENPQ_000017 2413/12342 1830/8190 583/4152
1 c.347+43A>T r.(=) p.(=) g.49440614A>T Copied from the Exome Variant Server CENPQ_000018 4036/12000 2635/7968 1401/4032
1 c.347+56_347+57insT r.(=) p.(=) g.49440627_49440628insT Copied from the Exome Variant Server CENPQ_000019 7/11086 6/7356 1/3730
1 c.392T>A r.(?) p.(Met131Lys) g.49448708T>A Copied from the Exome Variant Server CENPQ_000020 1/13006 0/8600 1/4406
1 c.411A>G r.(=) p.(=) g.49448727A>G Copied from the Exome Variant Server CENPQ_000021 7/13006 0/8600 7/4406
1 c.478-23del r.(=) p.(=) g.49456042del Copied from the Exome Variant Server CENPQ_000022 14/12460 14/8236 0/4224
1 c.591A>C r.(=) p.(=) g.49456178A>C Copied from the Exome Variant Server CENPQ_000023 1/13000 0/8594 1/4406
1 c.597+7A>G r.(=) p.(=) g.49456191A>G Copied from the Exome Variant Server CENPQ_000024 1/13000 0/8594 1/4406
1 c.597+23T>C r.(=) p.(=) g.49456207T>C Copied from the Exome Variant Server CENPQ_000025 1/13000 1/8594 0/4406
1 c.598-51G>A r.(=) p.(=) g.49456269G>A Copied from the Exome Variant Server CENPQ_000026 1/13006 0/8600 1/4406
1 c.598-13T>G r.(=) p.(=) g.49456307T>G Copied from the Exome Variant Server CENPQ_000027 1/13006 1/8600 0/4406
1 c.620G>C r.(?) p.(Gly207Ala) g.49456342G>C Copied from the Exome Variant Server CENPQ_000028 1/13006 0/8600 1/4406
1 c.647A>C r.(?) p.(Gln216Pro) g.49456369A>C Copied from the Exome Variant Server CENPQ_000029 4/13006 0/8600 4/4406
1 c.675+21T>C r.(=) p.(=) g.49456418T>C Copied from the Exome Variant Server CENPQ_000030 1/13006 1/8600 0/4406
1 c.675+51del r.(=) p.(=) g.49456448del Copied from the Exome Variant Server CENPQ_000031 1/12516 0/8254 1/4262
1 c.676-12T>C r.(=) p.(=) g.49459845T>C Copied from the Exome Variant Server CENPQ_000032 1/13004 1/8600 0/4404
1 c.689C>T r.(?) p.(Ala230Val) g.49459870C>T Copied from the Exome Variant Server CENPQ_000033 94/13006 8/8600 86/4406
1 c.690G>A r.(=) p.(=) g.49459871G>A Copied from the Exome Variant Server CENPQ_000034 3/13006 0/8600 3/4406
1 c.708T>G r.(?) p.(Asn236Lys) g.49459889T>G Copied from the Exome Variant Server CENPQ_000035 1/13006 0/8600 1/4406
1 c.727G>A r.(?) p.(Asp243Asn) g.49459908G>A Copied from the Exome Variant Server CENPQ_000036 2/13004 0/8598 2/4406
1 c.736C>G r.(?) p.(His246Asp) g.49459917C>G Copied from the Exome Variant Server CENPQ_000037 1/13002 1/8596 0/4406
1 c.740A>G r.(?) p.(Asn247Ser) g.49459921A>G Copied from the Exome Variant Server CENPQ_000038 1/13000 1/8594 0/4406
1 c.746C>G r.(?) p.(Ser249*) g.49459927C>G Copied from the Exome Variant Server CENPQ_000039 8/13000 7/8594 1/4406
1 c.770T>G r.(?) p.(Phe257Cys) g.49459951T>G Copied from the Exome Variant Server CENPQ_000040 1/13004 1/8598 0/4406
1 c.785A>G r.(?) p.(Tyr262Cys) g.49459966A>G Copied from the Exome Variant Server CENPQ_000041 1/13004 0/8598 1/4406
1 c.797A>G r.(?) p.(Asp266Gly) g.49459978A>G Copied from the Exome Variant Server CENPQ_000042 5334/13006 3511/8600 1823/4406
1 c.*38A>G r.(=) p.(=) g.49460026A>G Copied from the Exome Variant Server CENPQ_000043 13/13000 0/8596 13/4404
1 c.*43del r.(=) p.(=) g.49460031del Copied from the Exome Variant Server CENPQ_000044 1/12510 1/8248 0/4262
1 c.*44G>A r.(=) p.(=) g.49460032G>A Copied from the Exome Variant Server CENPQ_000045 1/12998 0/8594 1/4404
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