Unique variants in gene COPZ2

Information The variants shown are described using the NM_016429.2 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.17_18insC r.(?) p.(Trp7Leufs*48) g.46115122_46115123insG Copied from the Exome Variant Server COPZ2_000043 98/100 50/52 48/48
1 c.107+23del r.(=) p.(=) g.46115010del Copied from the Exome Variant Server COPZ2_000042 45/1974 43/1290 2/684
1 c.108-329G>A r.(=) p.(=) g.46114620C>T Copied from the Exome Variant Server COPZ2_000041 2568/10154 1991/7090 577/3064
1 c.108-313_108-312insC r.(=) p.(=) g.46114603_46114604insG Copied from the Exome Variant Server COPZ2_000040 12/11530 2/7606 10/3924
1 c.108-281G>C r.(=) p.(=) g.46114572C>G Copied from the Exome Variant Server COPZ2_000039 32/10298 28/7164 4/3134
1 c.108-254del r.(=) p.(=) g.46114545del Copied from the Exome Variant Server COPZ2_000038 43/12462 30/8210 13/4252
1 c.108-203G>A r.(=) p.(=) g.46114494C>T Copied from the Exome Variant Server COPZ2_000037 1/10300 1/7164 0/3136
1 c.108-45C>A r.(=) p.(=) g.46114336G>T Copied from the Exome Variant Server COPZ2_000036 1/12944 0/8576 1/4368
1 c.108-8G>A r.(=) p.(=) g.46114299C>T Copied from the Exome Variant Server COPZ2_000035 1/12818 0/8516 1/4302
1 c.250C>T N/A N/A g.46111243G>A Copied from the Exome Variant Server COPZ2_000034 2/12456 2/8392 0/4064
1 c.264+13C>G r.(=) p.(=) g.46111216G>C Copied from the Exome Variant Server COPZ2_000033 1/12536 1/8412 0/4124
1 c.264+15C>G r.(=) p.(=) g.46111214G>C Copied from the Exome Variant Server COPZ2_000032 1/12542 1/8414 0/4128
1 c.264+30_264+31insT r.(=) p.(=) g.46111198_46111199insA Copied from the Exome Variant Server COPZ2_000031 1/12058 1/8058 0/4000
1 c.264+57A>G r.(=) p.(=) g.46111172T>C Copied from the Exome Variant Server COPZ2_000030 394/4566 334/3182 60/1384
1 c.265-26G>T r.(=) p.(=) g.46110694C>A Copied from the Exome Variant Server COPZ2_000029 1/12340 0/8338 1/4002
1 c.286G>A r.(?) p.(Gly96Arg) g.46110647C>T Copied from the Exome Variant Server COPZ2_000028 1/12312 1/8324 0/3988
1 c.329C>T N/A N/A g.46110604G>A Copied from the Exome Variant Server COPZ2_000027 2/12224 2/8290 0/3934
1 c.330G>A N/A N/A g.46110603C>T Copied from the Exome Variant Server COPZ2_000026 2/12212 0/8288 2/3924
1 c.347C>T r.(?) p.(Ser116Phe) g.46110586G>A Copied from the Exome Variant Server COPZ2_000025 1/12158 1/8274 0/3884
1 c.357-42C>T r.(=) p.(=) g.46110149G>A Copied from the Exome Variant Server COPZ2_000024 2/12418 0/8342 2/4076
1 c.357-17G>A r.(=) p.(=) g.46110124C>T Copied from the Exome Variant Server COPZ2_000023 1/12462 1/8386 0/4076
1 c.412+6T>C r.(=) p.(=) g.46110046A>G Copied from the Exome Variant Server COPZ2_000022 1/12398 1/8350 0/4048
1 c.412+8A>G r.(=) p.(=) g.46110044T>C Copied from the Exome Variant Server COPZ2_000021 351/12398 12/8352 339/4046
1 c.413-56del r.(=) p.(=) g.46109655del Copied from the Exome Variant Server COPZ2_000020 1/11982 1/8010 0/3972
1 c.413-31_413-30insAG r.(=) p.(=) g.46109629_46109630insCT Copied from the Exome Variant Server COPZ2_000019 1/12034 1/8052 0/3982
1 c.429C>T N/A N/A g.46109583G>A Copied from the Exome Variant Server COPZ2_000018 1/12728 1/8472 0/4256
1 c.452C>T N/A N/A g.46109560G>A Copied from the Exome Variant Server COPZ2_000017 2/12776 1/8480 1/4296
1 c.478T>C N/A N/A g.46109534A>G Copied from the Exome Variant Server COPZ2_000016 11/12792 11/8498 0/4294
1 c.480G>A r.(=) p.(=) g.46109532C>T Copied from the Exome Variant Server COPZ2_000015 7/12782 6/8490 1/4292
1 c.490+33A>G r.(=) p.(=) g.46109489T>C Copied from the Exome Variant Server COPZ2_000014 1/12740 0/8470 1/4270
1 c.491-35T>G r.(=) p.(=) g.46106577A>C Copied from the Exome Variant Server COPZ2_000013 6/12232 6/8262 0/3970
1 c.491-22G>A r.(=) p.(=) g.46106564C>T Copied from the Exome Variant Server COPZ2_000012 1/12260 1/8294 0/3966
1 c.491-1G>A r.spl? p.? g.46106543C>T Copied from the Exome Variant Server COPZ2_000011 1/12222 1/8292 0/3930
1 c.542+18C>T r.(=) p.(=) g.46106473G>A Copied from the Exome Variant Server COPZ2_000010 30/12132 0/8280 30/3852
1 c.542+26C>T r.(=) p.(=) g.46106465G>A Copied from the Exome Variant Server COPZ2_000009 9/12110 8/8272 1/3838
1 c.543-52C>T r.(=) p.(=) g.46105928G>A Copied from the Exome Variant Server COPZ2_000008 1/6634 1/4358 0/2276
1 c.543-26C>T r.(=) p.(=) g.46105902G>A Copied from the Exome Variant Server COPZ2_000007 1/12304 1/8304 0/4000
1 c.543-16C>T r.(=) p.(=) g.46105892G>A Copied from the Exome Variant Server COPZ2_000006 1/12256 0/8288 1/3968
1 c.554C>T N/A N/A g.46105865G>A Copied from the Exome Variant Server COPZ2_000005 1/12202 0/8270 1/3932
1 c.555G>A N/A N/A g.46105864C>T Copied from the Exome Variant Server COPZ2_000004 1/12184 1/8260 0/3924
1 c.581+11_581+12insC r.(=) p.(=) g.46105826_46105827insG Copied from the Exome Variant Server COPZ2_000003 4/11538 4/7878 0/3660
1 c.593_594insCT r.(?) p.(Gln198Hisfs*13) g.46103829_46103830insAG Copied from the Exome Variant Server COPZ2_000002 1/11494 1/7856 0/3638
1 c.*34T>C r.(=) p.(=) g.46103760A>G Copied from the Exome Variant Server COPZ2_000001 4147/11880 3178/8192 969/3688
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