Unique variants in gene NCAPG2

Information The variants shown are described using the NM_017760.5 transcript reference sequence.

190 entries on 2 pages. Showing entries 1 - 100.
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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.-27A>C r.(=) p.(=) g.158494617T>G Copied from the Exome Variant Server NCAPG2_000189 2/11846 0/8176 2/3670
1 c.-14C>T r.(=) p.(=) g.158494604G>A Copied from the Exome Variant Server NCAPG2_000188 1/11862 1/8184 0/3678
1 c.-13A>G r.(=) p.(=) g.158494603T>C Copied from the Exome Variant Server NCAPG2_000187 1/11872 1/8188 0/3684
1 c.16A>T r.(?) p.(Thr6Ser) g.158494575T>A Copied from the Exome Variant Server NCAPG2_000186 1/11868 1/8178 0/3690
1 c.44T>C r.(?) p.(Leu15Pro) g.158494547A>G Copied from the Exome Variant Server NCAPG2_000185 3/11874 2/8186 1/3688
1 c.46G>A r.(?) p.(Val16Ile) g.158494545C>T Copied from the Exome Variant Server NCAPG2_000184 1/11884 0/8192 1/3692
1 c.79-27A>T r.(=) p.(=) g.158486216T>A Copied from the Exome Variant Server NCAPG2_000183 2/11782 2/8160 0/3622
1 c.79-22A>T r.(=) p.(=) g.158486211T>A Copied from the Exome Variant Server NCAPG2_000182 1/11786 1/8164 0/3622
1 c.79-4A>G r.spl? p.? g.158486193T>C Copied from the Exome Variant Server NCAPG2_000181 9/11780 8/8158 1/3622
1 c.130A>G r.(?) p.(Arg44Gly) g.158486138T>C Copied from the Exome Variant Server NCAPG2_000180 39/11876 2/8188 37/3688
1 c.176C>T r.(?) p.(Thr59Ile) g.158486092G>A Copied from the Exome Variant Server NCAPG2_000179 1/11958 0/8234 1/3724
1 c.182T>C r.(?) p.(Val61Ala) g.158486086A>G Copied from the Exome Variant Server NCAPG2_000178 20/11964 19/8234 1/3730
1 c.206G>A r.(?) p.(Gly69Glu) g.158486062C>T Copied from the Exome Variant Server NCAPG2_000177 1/11982 0/8230 1/3752
1 c.250G>A r.(?) p.(Glu84Lys) g.158486018C>T Copied from the Exome Variant Server NCAPG2_000176 80/11934 75/8210 5/3724
1 c.267+29C>T r.(=) p.(=) g.158485972G>A Copied from the Exome Variant Server NCAPG2_000175 2/11806 0/8162 2/3644
1 c.267+38_267+39del r.(=) p.(=) g.158485962_158485963del Copied from the Exome Variant Server NCAPG2_000174 3/11316 1/7822 2/3494
1 c.267+46_267+47insT r.(=) p.(=) g.158485954_158485955insA Copied from the Exome Variant Server NCAPG2_000173 33/11294 26/7814 7/3480
1 c.268-53_268-52insT r.(=) p.(=) g.158485700_158485701insA Copied from the Exome Variant Server NCAPG2_000172 7/11180 0/7720 7/3460
1 c.329T>G r.(?) p.(Ile110Arg) g.158485587A>C Copied from the Exome Variant Server NCAPG2_000171 1/11774 1/8144 0/3630
1 c.382+38G>A r.(=) p.(=) g.158485496C>T Copied from the Exome Variant Server NCAPG2_000170 117/11738 1/8128 116/3610
1 c.430A>G r.(?) p.(Ile144Val) g.158483367T>C Copied from the Exome Variant Server NCAPG2_000169 1/11978 0/8218 1/3760
1 c.537+4T>C r.spl? p.? g.158483256A>G Copied from the Exome Variant Server NCAPG2_000168 201/12026 3/8228 198/3798
1 c.537+33G>T r.(=) p.(=) g.158483227C>A Copied from the Exome Variant Server NCAPG2_000167 25/11990 23/8236 2/3754
1 c.537+39_537+42del r.(=) p.(=) g.158483218_158483221del Copied from the Exome Variant Server NCAPG2_000166 2/11516 2/7880 0/3636
1 c.537+43A>C r.(=) p.(=) g.158483217T>G Copied from the Exome Variant Server NCAPG2_000165 1/11990 0/8226 1/3764
1 c.538-24T>C r.(=) p.(=) g.158482669A>G Copied from the Exome Variant Server NCAPG2_000164 49/11794 0/8164 49/3630
1 c.545A>G r.(?) p.(Asp182Gly) g.158482638T>C Copied from the Exome Variant Server NCAPG2_000163 10/11844 8/8182 2/3662
1 c.553C>T r.(?) p.(Arg185Trp) g.158482630G>A Copied from the Exome Variant Server NCAPG2_000162 2/11834 2/8174 0/3660
1 c.554G>A r.(?) p.(Arg185Gln) g.158482629C>T Copied from the Exome Variant Server NCAPG2_000161 1/11838 1/8174 0/3664
1 c.563G>A r.(?) p.(Arg188His) g.158482620C>T Copied from the Exome Variant Server NCAPG2_000160 1/11834 0/8168 1/3666
1 c.573A>G r.(=) p.(=) g.158482610T>C Copied from the Exome Variant Server NCAPG2_000159 1/11842 0/8180 1/3662
1 c.606A>G r.(=) p.(=) g.158482577T>C Copied from the Exome Variant Server NCAPG2_000158 2/11810 0/8176 2/3634
1 c.669A>C r.(?) p.(Glu223Asp) g.158482514T>G Copied from the Exome Variant Server NCAPG2_000157 1/11836 1/8170 0/3666
1 c.673-40T>C r.(=) p.(=) g.158480174A>G Copied from the Exome Variant Server NCAPG2_000156 6/11958 0/8190 6/3768
1 c.673-21_673-20insT r.(=) p.(=) g.158480154_158480155insA Copied from the Exome Variant Server NCAPG2_000155 34/11394 0/7818 34/3576
1 c.684T>C r.(=) p.(=) g.158480123A>G Copied from the Exome Variant Server NCAPG2_000153 1/11764 1/8138 0/3626
1 c.709A>G r.(?) p.(Ile237Val) g.158480098T>C Copied from the Exome Variant Server NCAPG2_000151 1/11770 1/8148 0/3622
1 c.722A>G r.(?) p.(Lys241Arg) g.158480085T>C Copied from the Exome Variant Server NCAPG2_000149 1/11770 0/8152 1/3618
1 c.732C>T r.(=) p.(=) g.158480075G>A Copied from the Exome Variant Server NCAPG2_000147 7/11770 1/8156 6/3614
1 c.767+6T>A r.(=) p.(=) g.158480034A>T Copied from the Exome Variant Server NCAPG2_000145 2/11788 0/8162 2/3626
1 c.767+14G>A r.(=) p.(=) g.158480026C>T Copied from the Exome Variant Server NCAPG2_000154 2/11802 2/8168 0/3634
1 c.767+18T>C r.(=) p.(=) g.158480022A>G Copied from the Exome Variant Server NCAPG2_000152 1/11806 1/8168 0/3638
1 c.767+38A>T r.(=) p.(=) g.158480002T>A Copied from the Exome Variant Server NCAPG2_000150 1/11810 1/8162 0/3648
1 c.768-20A>G r.(=) p.(=) g.158478953T>C Copied from the Exome Variant Server NCAPG2_000148 6/11644 0/8060 6/3584
1 c.768-17T>C r.(=) p.(=) g.158478950A>G Copied from the Exome Variant Server NCAPG2_000146 2/11648 0/8064 2/3584
1 c.837+16T>A r.(=) p.(=) g.158478848A>T Copied from the Exome Variant Server NCAPG2_000144 43/11526 0/7994 43/3532
1 c.838-52G>A r.(=) p.(=) g.158476130C>T Copied from the Exome Variant Server NCAPG2_000143 1/6490 1/4306 0/2184
1 c.838-41A>T r.(=) p.(=) g.158476119T>A Copied from the Exome Variant Server NCAPG2_000142 1/12248 1/8300 0/3948
1 c.838-26G>A r.(=) p.(=) g.158476104C>T Copied from the Exome Variant Server NCAPG2_000141 7/12224 0/8290 7/3934
1 c.838-10G>A r.(=) p.(=) g.158476088C>T Copied from the Exome Variant Server NCAPG2_000140 47/12210 1/8288 46/3922
1 c.873C>T r.(=) p.(=) g.158476043G>A Copied from the Exome Variant Server NCAPG2_000139 388/12112 4/8266 384/3846
1 c.925-17C>A r.(=) p.(=) g.158473525G>T Copied from the Exome Variant Server NCAPG2_000138 2/11750 2/8136 0/3614
1 c.925-8G>T r.(=) p.(=) g.158473516C>A Copied from the Exome Variant Server NCAPG2_000137 25/11746 0/8134 25/3612
1 c.942C>T r.(=) p.(=) g.158473491G>A Copied from the Exome Variant Server NCAPG2_000136 1/11748 0/8138 1/3610
1 c.975G>A r.(=) p.(=) g.158473458C>T Copied from the Exome Variant Server NCAPG2_000135 21/11758 2/8136 19/3622
1 c.988T>C r.(=) p.(=) g.158473445A>G Copied from the Exome Variant Server NCAPG2_000134 1/11748 1/8130 0/3618
1 c.1020+20T>C r.(=) p.(=) g.158473393A>G Copied from the Exome Variant Server NCAPG2_000133 27/11752 0/8136 27/3616
1 c.1020+25G>A r.(=) p.(=) g.158473388C>T Copied from the Exome Variant Server NCAPG2_000132 3/11756 3/8140 0/3616
1 c.1020+38A>T r.(=) p.(=) g.158473375T>A Copied from the Exome Variant Server NCAPG2_000131 1/11760 1/8148 0/3612
1 c.1021-50C>T r.(=) p.(=) g.158472827G>A Copied from the Exome Variant Server NCAPG2_000130 1/11798 0/8156 1/3642
1 c.1021-49G>A r.(=) p.(=) g.158472826C>T Copied from the Exome Variant Server NCAPG2_000129 2/11804 2/8158 0/3646
1 c.1021-46T>A r.(=) p.(=) g.158472823A>T Copied from the Exome Variant Server NCAPG2_000128 11/11808 11/8160 0/3648
1 c.1021G>A r.(?) p.(Ala341Thr) g.158472777C>T Copied from the Exome Variant Server NCAPG2_000127 31/11844 0/8172 31/3672
1 c.1101T>C r.(=) p.(=) g.158472697A>G Copied from the Exome Variant Server NCAPG2_000126 1/12028 1/8236 0/3792
1 c.1143C>T r.(=) p.(=) g.158472655G>A Copied from the Exome Variant Server NCAPG2_000125 1/12274 1/8316 0/3958
1 c.1147-40A>G r.(=) p.(=) g.158468388T>C Copied from the Exome Variant Server NCAPG2_000124 1/11954 1/8220 0/3734
1 c.1147-33G>T r.(=) p.(=) g.158468381C>A Copied from the Exome Variant Server NCAPG2_000123 1/11950 1/8216 0/3734
1 c.1147-7C>T r.(=) p.(=) g.158468355G>A Copied from the Exome Variant Server NCAPG2_000122 45/11918 38/8204 7/3714
1 c.1165T>C r.(?) p.(Tyr389His) g.158468330A>G Copied from the Exome Variant Server NCAPG2_000121 52/11912 48/8198 4/3714
1 c.1227A>G r.(=) p.(=) g.158468268T>C Copied from the Exome Variant Server NCAPG2_000120 1/11920 0/8206 1/3714
1 c.1239G>A r.(=) p.(=) g.158468256C>T Copied from the Exome Variant Server NCAPG2_000119 3/11924 1/8206 2/3718
1 c.1242C>T r.(=) p.(=) g.158468253G>A Copied from the Exome Variant Server NCAPG2_000118 1/11934 1/8208 0/3726
1 c.1250T>C r.(?) p.(Ile417Thr) g.158468245A>G Copied from the Exome Variant Server NCAPG2_000117 1/11924 0/8204 1/3720
1 c.1262A>G r.(?) p.(Lys421Arg) g.158468233T>C Copied from the Exome Variant Server NCAPG2_000116 1/11952 1/8208 0/3744
1 c.1293G>A r.(=) p.(=) g.158468202C>T Copied from the Exome Variant Server NCAPG2_000115 1/11930 1/8200 0/3730
1 c.1326+18A>G r.(=) p.(=) g.158468151T>C Copied from the Exome Variant Server NCAPG2_000114 1/11746 0/8142 1/3604
1 c.1390C>T r.(?) p.(Leu464Phe) g.158464295G>A Copied from the Exome Variant Server NCAPG2_000113 25/12200 22/8284 3/3916
1 c.1471G>A r.(?) p.(Ala491Thr) g.158464214C>T Copied from the Exome Variant Server NCAPG2_000112 1/12116 0/8254 1/3862
1 c.1479+31_1479+35del r.(=) p.(=) g.158464171_158464175del Copied from the Exome Variant Server NCAPG2_000111 3/11506 1/7870 2/3636
1 c.1479+45_1479+46del r.(=) p.(=) g.158464160_158464161del Copied from the Exome Variant Server NCAPG2_000110 1/11504 1/7868 0/3636
1 c.1479+49G>A r.(=) p.(=) g.158464157C>T Copied from the Exome Variant Server NCAPG2_000109 1/11968 0/8216 1/3752
1 c.1480-50G>A r.(=) p.(=) g.158457492C>T Copied from the Exome Variant Server NCAPG2_000108 2/11892 0/8202 2/3690
1 c.1480-16T>C r.(=) p.(=) g.158457458A>G Copied from the Exome Variant Server NCAPG2_000107 3547/12050 2347/8254 1200/3796
1 c.1546C>T r.(?) p.(Arg516Trp) g.158457376G>A Copied from the Exome Variant Server NCAPG2_000106 2/12604 1/8452 1/4152
1 c.1572T>C r.(=) p.(=) g.158457350A>G Copied from the Exome Variant Server NCAPG2_000105 123/12740 0/8494 123/4246
1 c.1595C>T r.(?) p.(Pro532Leu) g.158457327G>A Copied from the Exome Variant Server NCAPG2_000104 1/12782 1/8510 0/4272
1 c.1630_1631insG r.(?) p.(Val544Glyfs*91) g.158457291_158457292insC Copied from the Exome Variant Server NCAPG2_000103 1/12260 1/8154 0/4106
1 c.1644C>T r.(=) p.(=) g.158457278G>A Copied from the Exome Variant Server NCAPG2_000102 2/12768 1/8510 1/4258
1 c.1647C>T r.(=) p.(=) g.158457275G>A Copied from the Exome Variant Server NCAPG2_000101 2/12742 0/8500 2/4242
1 c.1686C>T r.(=) p.(=) g.158457236G>A Copied from the Exome Variant Server NCAPG2_000100 5/12640 5/8458 0/4182
1 c.1702+31T>C r.(=) p.(=) g.158457189A>G Copied from the Exome Variant Server NCAPG2_000099 1/12394 1/8356 0/4038
1 c.1702+47A>T r.(=) p.(=) g.158457173T>A Copied from the Exome Variant Server NCAPG2_000098 3/12198 0/8306 3/3892
1 c.1723C>T r.(?) p.(Arg575Cys) g.158456968G>A Copied from the Exome Variant Server NCAPG2_000097 1/12196 0/8292 1/3904
1 c.1731C>T r.(=) p.(=) g.158456960G>A Copied from the Exome Variant Server NCAPG2_000096 1/12272 1/8318 0/3954
1 c.1777G>A r.(?) p.(Glu593Lys) g.158456914C>T Copied from the Exome Variant Server NCAPG2_000095 1/12478 1/8382 0/4096
1 c.1780_1783del r.(?) p.(Glu594Lysfs*10) g.158456908_158456911del Copied from the Exome Variant Server NCAPG2_000094 1/11964 1/8020 0/3944
1 c.1791C>T r.(=) p.(=) g.158456900G>A Copied from the Exome Variant Server NCAPG2_000093 1/12508 1/8384 0/4124
1 c.1798G>C r.(?) p.(Glu600Gln) g.158456893C>G Copied from the Exome Variant Server NCAPG2_000092 42/12524 2/8388 40/4136
1 c.1815+12A>G r.(=) p.(=) g.158456864T>C Copied from the Exome Variant Server NCAPG2_000091 1/12514 1/8390 0/4124
1 c.1815+22C>T r.(=) p.(=) g.158456854G>A Copied from the Exome Variant Server NCAPG2_000090 3/12492 3/8382 0/4110
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