Unique variants in gene CCDC73

Information The variants shown are described using the NM_001008391.2 transcript reference sequence.

155 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.-7T>C r.(=) p.(=) g.32781796A>G Copied from the Exome Variant Server CCDC73_000155 2/11660 0/8096 2/3564
1 c.17A>G r.(?) p.(Asn6Ser) g.32781773T>C Copied from the Exome Variant Server CCDC73_000154 75/11702 68/8110 7/3592
1 c.24G>C r.(?) p.(Glu8Asp) g.32781766C>G Copied from the Exome Variant Server CCDC73_000153 1/11716 1/8116 0/3600
1 c.78G>A r.(=) p.(=) g.32781712C>T Copied from the Exome Variant Server CCDC73_000152 1/11728 1/8126 0/3602
1 c.83T>C r.(?) p.(Leu28Ser) g.32781707A>G Copied from the Exome Variant Server CCDC73_000151 2/11720 0/8126 2/3594
1 c.101T>C r.(?) p.(Leu34Ser) g.32781689A>G Copied from the Exome Variant Server CCDC73_000150 1/11720 1/8120 0/3600
1 c.123G>A r.(=) p.(=) g.32781667C>T Copied from the Exome Variant Server CCDC73_000149 2/11698 0/8114 2/3584
1 c.125G>A r.(?) p.(Arg42His) g.32781665C>T Copied from the Exome Variant Server CCDC73_000148 1/11698 1/8114 0/3584
1 c.135+31_135+34del r.(=) p.(=) g.32781621_32781624del Copied from the Exome Variant Server CCDC73_000147 2789/11220 1954/7756 835/3464
1 c.135+39A>G r.(=) p.(=) g.32781616T>C Copied from the Exome Variant Server CCDC73_000146 3/11646 3/8080 0/3566
1 c.135+44_135+49del r.(=) p.(=) g.32781606_32781611del Copied from the Exome Variant Server CCDC73_000145 544/11194 341/7746 203/3448
1 c.136-50G>T r.(=) p.(=) g.32739743C>A Copied from the Exome Variant Server CCDC73_000144 70/11704 1/8122 69/3582
1 c.136-18T>G r.(=) p.(=) g.32739711A>C Copied from the Exome Variant Server CCDC73_000143 39/11708 0/8124 39/3584
1 c.136-6A>C r.(=) p.(=) g.32739699T>G Copied from the Exome Variant Server CCDC73_000142 1/11746 0/8136 1/3610
1 c.207+42A>G r.(=) p.(=) g.32739580T>C Copied from the Exome Variant Server CCDC73_000141 2/11976 2/8214 0/3762
1 c.207+61G>A r.(=) p.(=) g.32739561C>T Copied from the Exome Variant Server CCDC73_000140 140/4566 0/3182 140/1384
1 c.214_215del r.(?) p.(Leu72Serfs*19) g.32724483_32724484del Copied from the Exome Variant Server CCDC73_000139 1/11314 0/7818 1/3496
1 c.279+8C>T r.(=) p.(=) g.32724411G>A Copied from the Exome Variant Server CCDC73_000138 2/11830 2/8166 0/3664
1 c.282G>A r.(=) p.(=) g.32722370C>T Copied from the Exome Variant Server CCDC73_000137 1/5894 0/4074 1/1820
1 c.315+17T>A r.(=) p.(=) g.32722320A>T Copied from the Exome Variant Server CCDC73_000136 1055/5580 765/3852 290/1728
1 c.316-16A>G r.(=) p.(=) g.32720887T>C Copied from the Exome Variant Server CCDC73_000135 877/11594 618/8060 259/3534
1 c.390+14C>T r.(=) p.(=) g.32720783G>A Copied from the Exome Variant Server CCDC73_000134 59/11654 1/8096 58/3558
1 c.390+20G>A r.(=) p.(=) g.32720777C>T Copied from the Exome Variant Server CCDC73_000133 1/11648 1/8094 0/3554
1 c.390+29G>A r.(=) p.(=) g.32720768C>T Copied from the Exome Variant Server CCDC73_000132 156/11636 4/8094 152/3542
1 c.390+51T>C r.(=) p.(=) g.32720746A>G Copied from the Exome Variant Server CCDC73_000131 2/11586 2/8062 0/3524
1 c.391-47A>G r.(=) p.(=) g.32705167T>C Copied from the Exome Variant Server CCDC73_000130 2/11686 0/8086 2/3600
1 c.391-41_391-38del r.(=) p.(=) g.32705158_32705161del Copied from the Exome Variant Server CCDC73_000129 2/11226 0/7746 2/3480
1 c.391-18_391-17insT r.(=) p.(=) g.32705137_32705138insA Copied from the Exome Variant Server CCDC73_000128 561/11210 370/7744 191/3466
1 c.429+6G>A r.(=) p.(=) g.32705076C>T Copied from the Exome Variant Server CCDC73_000127 793/11696 728/8100 65/3596
1 c.429+19A>G r.(=) p.(=) g.32705063T>C Copied from the Exome Variant Server CCDC73_000126 2/11700 0/8104 2/3596
1 c.429+25T>C r.(=) p.(=) g.32705057A>G Copied from the Exome Variant Server CCDC73_000125 42/11700 0/8102 42/3598
1 c.429+29C>T r.(=) p.(=) g.32705053G>A Copied from the Exome Variant Server CCDC73_000124 1/11698 1/8102 0/3596
1 c.429+48G>C r.(=) p.(=) g.32705034C>G Copied from the Exome Variant Server CCDC73_000123 2/11702 2/8102 0/3600
1 c.430-52_430-51insTG r.(=) p.(=) g.32697618_32697619insCA Copied from the Exome Variant Server CCDC73_000122 9/11408 7/7838 2/3570
1 c.430-31G>A r.(=) p.(=) g.32697598C>T Copied from the Exome Variant Server CCDC73_000121 1016/11892 624/8178 392/3714
1 c.441C>G r.(=) p.(=) g.32697556G>C Copied from the Exome Variant Server CCDC73_000120 10/11890 0/8172 10/3718
1 c.465A>C r.(?) p.(Glu155Asp) g.32697532T>G Copied from the Exome Variant Server CCDC73_000119 1/11848 1/8150 0/3698
1 c.471T>C r.(=) p.(=) g.32697526A>G Copied from the Exome Variant Server CCDC73_000118 10/11842 0/8148 10/3694
1 c.491T>C r.(?) p.(Ile164Thr) g.32697506A>G Copied from the Exome Variant Server CCDC73_000117 2/11838 2/8148 0/3690
1 c.516A>T r.(=) p.(=) g.32697481T>A Copied from the Exome Variant Server CCDC73_000116 1/11806 0/8156 1/3650
1 c.548A>G r.(?) p.(Glu183Gly) g.32697449T>C Copied from the Exome Variant Server CCDC73_000115 1/11772 0/8140 1/3632
1 c.565+16T>G r.(=) p.(=) g.32697416A>C Copied from the Exome Variant Server CCDC73_000114 1/11716 1/8124 0/3592
1 c.566-40A>T r.(=) p.(=) g.32697230T>A Copied from the Exome Variant Server CCDC73_000113 1/11642 1/8060 0/3582
1 c.568C>T r.(?) p.(Arg190Trp) g.32697188G>A Copied from the Exome Variant Server CCDC73_000112 20/11694 0/8098 20/3596
1 c.597T>A r.(=) p.(=) g.32697159A>T Copied from the Exome Variant Server CCDC73_000111 4/11662 0/8084 4/3578
1 c.605del r.(?) p.(Leu202*) g.32697151del Copied from the Exome Variant Server CCDC73_000109 1/11196 0/7728 1/3468
1 c.631T>C r.(?) p.(Cys211Arg) g.32697125A>G Copied from the Exome Variant Server CCDC73_000107 1/11632 1/8060 0/3572
1 c.632G>T r.(?) p.(Cys211Phe) g.32697124C>A Copied from the Exome Variant Server CCDC73_000105 1/11634 0/8062 1/3572
1 c.645+30G>C r.(=) p.(=) g.32697081C>G Copied from the Exome Variant Server CCDC73_000103 1/11500 1/7982 0/3518
1 c.645+51A>T r.(=) p.(=) g.32697060T>A Copied from the Exome Variant Server CCDC73_000110 2/11038 2/7688 0/3350
1 c.646-14T>C r.(=) p.(=) g.32676532A>G Copied from the Exome Variant Server CCDC73_000108 1/11712 0/8108 1/3604
1 c.697T>C r.(?) p.(Tyr233His) g.32676467A>G Copied from the Exome Variant Server CCDC73_000106 1/11700 0/8104 1/3596
1 c.772A>G r.(?) p.(Met258Val) g.32676392T>C Copied from the Exome Variant Server CCDC73_000104 2/11648 0/8102 2/3546
1 c.774G>A r.(?) p.(Met258Ile) g.32676390C>T Copied from the Exome Variant Server CCDC73_000102 1/11644 1/8104 0/3540
1 c.774+50_774+51del r.(=) p.(=) g.32676339_32676340del Copied from the Exome Variant Server CCDC73_000101 2/10722 0/7452 2/3270
1 c.808A>T r.(?) p.(Ile270Phe) g.32675550T>A Copied from the Exome Variant Server CCDC73_000100 1/11654 1/8088 0/3566
1 c.834+16C>A r.(=) p.(=) g.32675508G>T Copied from the Exome Variant Server CCDC73_000099 1/11690 1/8102 0/3588
1 c.834+27C>T r.(=) p.(=) g.32675497G>A Copied from the Exome Variant Server CCDC73_000098 2/11694 0/8106 2/3588
1 c.834+32A>G r.(=) p.(=) g.32675492T>C Copied from the Exome Variant Server CCDC73_000097 1/11680 1/8092 0/3588
1 c.834+39C>G r.(=) p.(=) g.32675485G>C Copied from the Exome Variant Server CCDC73_000096 1/11666 1/8080 0/3586
1 c.835-46del r.(=) p.(=) g.32674819del Copied from the Exome Variant Server CCDC73_000095 2/11262 2/7778 0/3484
1 c.835-42A>G r.(=) p.(=) g.32674815T>C Copied from the Exome Variant Server CCDC73_000094 1/11704 1/8114 0/3590
1 c.851T>C r.(?) p.(Phe284Ser) g.32674757A>G Copied from the Exome Variant Server CCDC73_000093 94/11840 88/8178 6/3662
1 c.874C>T r.(?) p.(Arg292Trp) g.32674734G>A Copied from the Exome Variant Server CCDC73_000092 4/11908 3/8196 1/3712
1 c.888A>G r.(=) p.(=) g.32674720T>C Copied from the Exome Variant Server CCDC73_000091 4/11932 3/8202 1/3730
1 c.903G>A r.(?) p.(Met301Ile) g.32674705C>T Copied from the Exome Variant Server CCDC73_000090 1/11942 0/8202 1/3740
1 c.917A>G r.(?) p.(Lys306Arg) g.32674691T>C Copied from the Exome Variant Server CCDC73_000089 1/11928 0/8202 1/3726
1 c.939G>A r.(=) p.(=) g.32674669C>T Copied from the Exome Variant Server CCDC73_000088 1/11916 1/8182 0/3734
1 c.939+5G>A r.spl? p.? g.32674664C>T Copied from the Exome Variant Server CCDC73_000087 1/11908 0/8182 1/3726
1 c.939+10A>G r.(=) p.(=) g.32674659T>C Copied from the Exome Variant Server CCDC73_000086 2/11908 1/8186 1/3722
1 c.939+30A>G r.(=) p.(=) g.32674639T>C Copied from the Exome Variant Server CCDC73_000085 3/11866 2/8174 1/3692
1 c.939+42T>C r.(=) p.(=) g.32674627A>G Copied from the Exome Variant Server CCDC73_000084 5191/11826 3469/8162 1722/3664
1 c.940-39T>C r.(=) p.(=) g.32663667A>G Copied from the Exome Variant Server CCDC73_000083 1/11750 1/8128 0/3622
1 c.940-5T>G r.spl? p.? g.32663633A>C Copied from the Exome Variant Server CCDC73_000082 1/11704 0/8120 1/3584
1 c.963G>A r.(=) p.(=) g.32663605C>T Copied from the Exome Variant Server CCDC73_000081 1/11690 1/8110 0/3580
1 c.1014T>C r.(=) p.(=) g.32663554A>G Copied from the Exome Variant Server CCDC73_000080 1/11670 1/8100 0/3570
1 c.1051-5A>G r.spl? p.? g.32657381T>C Copied from the Exome Variant Server CCDC73_000079 4/11480 0/7984 4/3496
1 c.1064A>G r.(?) p.(Asn355Ser) g.32657363T>C Copied from the Exome Variant Server CCDC73_000078 1/11522 0/8006 1/3516
1 c.1161A>G N/A N/A g.32657266T>C Copied from the Exome Variant Server CCDC73_000077 8642/11602 5928/8052 2714/3550
1 c.1185G>C r.(?) p.(Gln395His) g.32657242C>G Copied from the Exome Variant Server CCDC73_000076 1/11624 0/8052 1/3572
1 c.1185+33A>G r.(=) p.(=) g.32657209T>C Copied from the Exome Variant Server CCDC73_000075 1/11632 0/8054 1/3578
1 c.1185+44T>A r.(=) p.(=) g.32657198A>T Copied from the Exome Variant Server CCDC73_000074 326/11634 302/8058 24/3576
1 c.1185+45A>C r.(=) p.(=) g.32657197T>G Copied from the Exome Variant Server CCDC73_000073 623/11636 575/8058 48/3578
1 c.1186-35A>G r.(=) p.(=) g.32637710T>C Copied from the Exome Variant Server CCDC73_000072 1/11652 0/8046 1/3606
1 c.1206T>C r.(=) p.(=) g.32637655A>G Copied from the Exome Variant Server CCDC73_000071 7/11674 0/8068 7/3606
1 c.1226C>G r.(?) p.(Thr409Ser) g.32637635G>C Copied from the Exome Variant Server CCDC73_000070 39/11658 38/8072 1/3586
1 c.1246A>G r.(?) p.(Ile416Val) g.32637615T>C Copied from the Exome Variant Server CCDC73_000069 3/11684 2/8100 1/3584
1 c.1309G>A r.(?) p.(Asp437Asn) g.32637552C>T Copied from the Exome Variant Server CCDC73_000068 2/11656 2/8108 0/3548
1 c.1324G>T r.(?) p.(Glu442*) g.32637537C>A Copied from the Exome Variant Server CCDC73_000067 1/11628 1/8086 0/3542
1 c.1353T>C r.(=) p.(=) g.32637508A>G Copied from the Exome Variant Server CCDC73_000066 2/11610 0/8074 2/3536
1 c.1357G>C r.(?) p.(Glu453Gln) g.32637504C>G Copied from the Exome Variant Server CCDC73_000065 2/11596 2/8064 0/3532
1 c.1375+18T>C r.(=) p.(=) g.32637468A>G Copied from the Exome Variant Server CCDC73_000064 18/11544 0/8030 18/3514
1 c.1376-6T>C r.(=) p.(=) g.32636494A>G Copied from the Exome Variant Server CCDC73_000063 1/11672 1/8084 0/3588
1 c.1445G>T r.(?) p.(Ser482Ile) g.32636419C>A Copied from the Exome Variant Server CCDC73_000062 1/11772 1/8134 0/3638
1 c.1477G>C r.(?) p.(Asp493His) g.32636387C>G Copied from the Exome Variant Server CCDC73_000061 4/11794 0/8140 4/3654
1 c.1484_1486del r.(?) p.(Glu495del) g.32636378_32636380del Copied from the Exome Variant Server CCDC73_000060 1/11364 1/7818 0/3546
1 c.1508C>T r.(?) p.(Ser503Leu) g.32636356G>A Copied from the Exome Variant Server CCDC73_000059 4/11810 3/8158 1/3652
1 c.1519G>A r.(?) p.(Asp507Asn) g.32636345C>T Copied from the Exome Variant Server CCDC73_000058 1/11824 1/8160 0/3664
1 c.1528A>C r.(?) p.(Lys510Gln) g.32636336T>G Copied from the Exome Variant Server CCDC73_000057 1/11826 1/8164 0/3662
1 c.1600C>T r.(?) p.(Pro534Ser) g.32636264G>A Copied from the Exome Variant Server CCDC73_000056 1/11798 1/8152 0/3646
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