Unique variants in gene C8orf82

Information The variants shown are described using the NM_001001795.1 transcript reference sequence.

32 entries on 1 page. Showing entries 1 - 32.
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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.-25T>G r.(=) p.(=) g.145754325A>C Copied from the Exome Variant Server C8orf82_000024 5/10062 0/6704 5/3358
1 c.-6A>C r.(=) p.(=) g.145754306T>G Copied from the Exome Variant Server C8orf82_000022 11/10786 0/7134 11/3652
1 c.29C>T r.(?) p.(Thr10Ile) g.145754272G>A Copied from the Exome Variant Server C8orf82_000020 681/11460 26/7604 655/3856
1 c.113C>T r.(?) p.(Pro38Leu) g.145754188G>A Copied from the Exome Variant Server C8orf82_000018 1/12628 1/8426 0/4202
1 c.114G>C r.(=) p.(=) g.145754187C>G Copied from the Exome Variant Server C8orf82_000032 1640/12618 49/8420 1591/4198
1 c.156+18C>T r.(=) p.(=) g.145754127G>A Copied from the Exome Variant Server C8orf82_000031 1273/12290 51/8228 1222/4062
1 c.157-19C>A r.(=) p.(=) g.145753475G>T Copied from the Exome Variant Server C8orf82_000030 357/13002 4/8596 353/4406
1 c.157-17_157-3del r.spl? p.? g.145753459_145753473del Copied from the Exome Variant Server C8orf82_000029 2/12516 2/8252 0/4264
1 c.157-1G>A r.spl? p.? g.145753457C>T Copied from the Exome Variant Server C8orf82_000028 1/13004 1/8598 0/4406
1 c.169G>A r.(?) p.(Asp57Asn) g.145753444C>T Copied from the Exome Variant Server C8orf82_000027 1/13006 0/8600 1/4406
1 c.182del r.(?) p.(Lys61Argfs*20) g.145753431del Copied from the Exome Variant Server C8orf82_000026 1/12518 0/8254 1/4264
1 c.205+7C>T r.(=) p.(=) g.145753401G>A Copied from the Exome Variant Server C8orf82_000025 1/13006 1/8600 0/4406
1 c.205+25C>T r.(=) p.(=) g.145753383G>A Copied from the Exome Variant Server C8orf82_000023 1/13004 1/8598 0/4406
1 c.205+27C>T r.(=) p.(=) g.145753381G>A Copied from the Exome Variant Server C8orf82_000021 1/13004 0/8598 1/4406
1 c.205+30T>C r.(=) p.(=) g.145753378A>G Copied from the Exome Variant Server C8orf82_000019 4/13004 4/8598 0/4406
1 c.205+39C>T r.(=) p.(=) g.145753369G>A Copied from the Exome Variant Server C8orf82_000017 1/13002 0/8596 1/4406
1 c.205+43C>T r.(=) p.(=) g.145753365G>A Copied from the Exome Variant Server C8orf82_000016 1/13002 1/8596 0/4406
1 c.205+46G>A r.(=) p.(=) g.145753362C>T Copied from the Exome Variant Server C8orf82_000015 8/13002 2/8596 6/4406
1 c.205+50C>A r.(=) p.(=) g.145753358G>T Copied from the Exome Variant Server C8orf82_000014 13/13000 11/8596 2/4404
1 c.206-19C>T r.(=) p.(=) g.145753190G>A Copied from the Exome Variant Server C8orf82_000013 2/12914 0/8554 2/4360
1 c.206-9A>G r.(=) p.(=) g.145753180T>C Copied from the Exome Variant Server C8orf82_000012 1/12930 1/8560 0/4370
1 c.210G>A r.(=) p.(=) g.145753167C>T Copied from the Exome Variant Server C8orf82_000011 1/12922 0/8552 1/4370
1 c.216C>A r.(?) p.(Phe72Leu) g.145753161G>T Copied from the Exome Variant Server C8orf82_000010 6/12922 5/8552 1/4370
1 c.217C>G r.(?) p.(Leu73Val) g.145753160G>C Copied from the Exome Variant Server C8orf82_000009 1/12924 1/8556 0/4368
1 c.222C>T r.(=) p.(=) g.145753155G>A Copied from the Exome Variant Server C8orf82_000008 6/12926 6/8554 0/4372
1 c.227T>C r.(?) p.(Phe76Ser) g.145753150A>G Copied from the Exome Variant Server C8orf82_000007 1/12932 1/8556 0/4376
1 c.245C>G r.(?) p.(Pro82Arg) g.145753132G>C Copied from the Exome Variant Server C8orf82_000006 53/12932 0/8558 53/4374
1 c.253A>T r.(?) p.(Ser85Cys) g.145753124T>A Copied from the Exome Variant Server C8orf82_000005 5/12938 1/8570 4/4368
1 c.272C>G r.(?) p.(Ala91Gly) g.145753105G>C Copied from the Exome Variant Server C8orf82_000004 1/12926 0/8576 1/4350
1 c.279C>T r.(=) p.(=) g.145753098G>A Copied from the Exome Variant Server C8orf82_000003 1/12926 0/8576 1/4350
1 c.309C>T r.(=) p.(=) g.145753068G>A Copied from the Exome Variant Server C8orf82_000002 1/12906 0/8570 1/4336
1 c.404C>T r.(?) p.(Ala135Val) g.145752973G>A Copied from the Exome Variant Server C8orf82_000001 5/9966 0/6610 5/3356
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