Unique variants in gene CENPI

Information The variants shown are described using the NM_006733.2 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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.-13-25_-13-21del r.(=) p.(=) g.100356022_100356026del Copied from the Exome Variant Server CENPI_000001 1666/10189 1319/6471 347/3718
1 c.18A>G r.(=) p.(=) g.100356077A>G Copied from the Exome Variant Server CENPI_000002 1/10563 1/6728 0/3835
1 c.33G>A r.(=) p.(=) g.100356092G>A Copied from the Exome Variant Server CENPI_000003 1/10563 1/6728 0/3835
1 c.116C>G r.(?) p.(Ser39Trp) g.100356175C>G Copied from the Exome Variant Server CENPI_000004 1/10563 0/6728 1/3835
1 c.134A>G r.(?) p.(His45Arg) g.100356193A>G Copied from the Exome Variant Server CENPI_000005 24/10563 0/6728 24/3835
1 c.167A>G r.(?) p.(His56Arg) g.100356226A>G Copied from the Exome Variant Server CENPI_000006 1/10563 1/6728 0/3835
1 c.177T>A r.(?) p.(Asp59Glu) g.100356236T>A Copied from the Exome Variant Server CENPI_000007 1/10563 1/6728 0/3835
1 c.208G>C r.(?) p.(Val70Leu) g.100356267G>C Copied from the Exome Variant Server CENPI_000008 1/10563 1/6728 0/3835
1 c.226+21T>G r.(=) p.(=) g.100356306T>G Copied from the Exome Variant Server CENPI_000009 3/10563 0/6728 3/3835
1 c.226+25G>T r.(=) p.(=) g.100356310G>T Copied from the Exome Variant Server CENPI_000010 56/10563 53/6728 3/3835
1 c.227-10C>A r.(=) p.(=) g.100357253C>A Copied from the Exome Variant Server CENPI_000011 1/10558 1/6727 0/3831
1 c.255T>C r.(=) p.(=) g.100357291T>C Copied from the Exome Variant Server CENPI_000012 1/10562 1/6727 0/3835
1 c.344T>C r.(?) p.(Ile115Thr) g.100357380T>C Copied from the Exome Variant Server CENPI_000013 7/10562 0/6727 7/3835
1 c.364+18del r.(=) p.(=) g.100357418del Copied from the Exome Variant Server CENPI_000014 4746/10202 3110/6483 1636/3719
1 c.365G>C r.(?) p.(Gly122Ala) g.100364462G>C Copied from the Exome Variant Server CENPI_000015 1/10563 0/6728 1/3835
1 c.383G>A r.(?) p.(Arg128Gln) g.100364480G>A Copied from the Exome Variant Server CENPI_000017 1/10563 0/6728 1/3835
1 c.444C>T r.(=) p.(=) g.100364541C>T Copied from the Exome Variant Server CENPI_000019 1/10563 1/6728 0/3835
1 c.484-49C>T r.(=) p.(=) g.100364831C>T Copied from the Exome Variant Server CENPI_000021 1/10557 1/6723 0/3834
1 c.484-38A>G r.(=) p.(=) g.100364842A>G Copied from the Exome Variant Server CENPI_000023 1/10559 1/6725 0/3834
1 c.496C>T r.(?) p.(Arg166Cys) g.100364892C>T Copied from the Exome Variant Server CENPI_000016 1/10561 1/6728 0/3833
1 c.497G>A r.(?) p.(Arg166His) g.100364893G>A Copied from the Exome Variant Server CENPI_000018 1/10561 1/6728 0/3833
1 c.520T>A r.(?) p.(Phe174Ile) g.100364916T>A Copied from the Exome Variant Server CENPI_000020 1/10561 0/6728 1/3833
1 c.580G>C r.(?) p.(Asp194His) g.100364976G>C Copied from the Exome Variant Server CENPI_000022 1/10563 0/6728 1/3835
1 c.591+14G>A r.(=) p.(=) g.100365001G>A Copied from the Exome Variant Server CENPI_000024 1/10563 0/6728 1/3835
1 c.591+26G>A r.(=) p.(=) g.100365013G>A Copied from the Exome Variant Server CENPI_000025 1/10563 0/6728 1/3835
1 c.592-27T>C r.(=) p.(=) g.100375364T>C Copied from the Exome Variant Server CENPI_000026 1/10510 1/6700 0/3810
1 c.592-20del r.(=) p.(=) g.100375371del Copied from the Exome Variant Server CENPI_000027 2647/10167 1726/6462 921/3705
1 c.622C>G r.(?) p.(Leu208Val) g.100375421C>G Copied from the Exome Variant Server CENPI_000028 1/10543 0/6716 1/3827
1 c.640+17C>A r.(=) p.(=) g.100375456C>A Copied from the Exome Variant Server CENPI_000029 1/10530 1/6708 0/3822
1 c.640+27A>G r.(=) p.(=) g.100375466A>G Copied from the Exome Variant Server CENPI_000030 1/10520 1/6706 0/3814
1 c.641-30C>T r.(=) p.(=) g.100375697C>T Copied from the Exome Variant Server CENPI_000031 1/10563 1/6728 0/3835
1 c.641-28T>G r.(=) p.(=) g.100375699T>G Copied from the Exome Variant Server CENPI_000032 1/10563 0/6728 1/3835
1 c.687+6T>C r.(=) p.(=) g.100375779T>C Copied from the Exome Variant Server CENPI_000033 1/10563 1/6728 0/3835
1 c.687+47G>T r.(=) p.(=) g.100375820G>T Copied from the Exome Variant Server CENPI_000034 1/10563 1/6728 0/3835
1 c.688-38G>A r.(=) p.(=) g.100381660G>A Copied from the Exome Variant Server CENPI_000035 10/10563 9/6728 1/3835
1 c.699T>A r.(=) p.(=) g.100381709T>A Copied from the Exome Variant Server CENPI_000036 2/10563 0/6728 2/3835
1 c.712T>C r.(=) p.(=) g.100381722T>C Copied from the Exome Variant Server CENPI_000037 2/10563 2/6728 0/3835
1 c.715T>C r.(=) p.(=) g.100381725T>C Copied from the Exome Variant Server CENPI_000038 1/10563 1/6728 0/3835
1 c.777+29T>A r.(=) p.(=) g.100381816T>A Copied from the Exome Variant Server CENPI_000039 2/10563 0/6728 2/3835
1 c.777+42A>G r.(=) p.(=) g.100381829A>G Copied from the Exome Variant Server CENPI_000040 1/10561 0/6726 1/3835
1 c.777+48del r.(=) p.(=) g.100381835del Copied from the Exome Variant Server CENPI_000041 1/10202 0/6481 1/3721
1 c.777+48T>C r.(=) p.(=) g.100381835T>C Copied from the Exome Variant Server CENPI_000042 24/10561 0/6726 24/3835
1 c.825C>T r.(=) p.(=) g.100382174C>T Copied from the Exome Variant Server CENPI_000043 4/10563 1/6728 3/3835
1 c.826G>A r.(?) p.(Val276Met) g.100382175G>A Copied from the Exome Variant Server CENPI_000044 58/10563 0/6728 58/3835
1 c.1074+10T>C r.(=) p.(=) g.100382664T>C Copied from the Exome Variant Server CENPI_000045 1/10563 1/6728 0/3835
1 c.1075-21T>A r.(=) p.(=) g.100383684T>A Copied from the Exome Variant Server CENPI_000046 3/10563 0/6728 3/3835
1 c.1075-20C>T r.(=) p.(=) g.100383685C>T Copied from the Exome Variant Server CENPI_000047 1/10563 0/6728 1/3835
1 c.1137C>G r.(=) p.(=) g.100383767C>G Copied from the Exome Variant Server CENPI_000048 1/10563 0/6728 1/3835
1 c.1191A>G r.(=) p.(=) g.100383821A>G Copied from the Exome Variant Server CENPI_000049 1/10563 1/6728 0/3835
1 c.1195+15A>C r.(=) p.(=) g.100383840A>C Copied from the Exome Variant Server CENPI_000050 1544/10563 946/6728 598/3835
1 c.1195+52A>G r.(=) p.(=) g.100383877A>G Copied from the Exome Variant Server CENPI_000051 49/6038 0/3621 49/2417
1 c.1196-50del r.(=) p.(=) g.100384921del Copied from the Exome Variant Server CENPI_000052 16/10204 6/6483 10/3721
1 c.1232G>C r.(?) p.(Gly411Ala) g.100385007G>C Copied from the Exome Variant Server CENPI_000053 1/10563 1/6728 0/3835
1 c.1305T>C r.(=) p.(=) g.100387196T>C Copied from the Exome Variant Server CENPI_000054 15/10563 0/6728 15/3835
1 c.1379G>C r.(?) p.(Ser460Thr) g.100387270G>C Copied from the Exome Variant Server CENPI_000055 1/10563 0/6728 1/3835
1 c.1405+17T>A r.(=) p.(=) g.100387313T>A Copied from the Exome Variant Server CENPI_000056 82/10563 0/6728 82/3835
1 c.1405+38G>A r.(=) p.(=) g.100387334G>A Copied from the Exome Variant Server CENPI_000057 6/10563 4/6728 2/3835
1 c.1405+41C>T r.(=) p.(=) g.100387337C>T Copied from the Exome Variant Server CENPI_000058 2155/10563 1759/6728 396/3835
1 c.1406-14T>C r.(=) p.(=) g.100387367T>C Copied from the Exome Variant Server CENPI_000059 1/10563 1/6728 0/3835
1 c.1436C>T r.(?) p.(Ala479Val) g.100387411C>T Copied from the Exome Variant Server CENPI_000060 1/10563 0/6728 1/3835
1 c.1471-6C>T r.(=) p.(=) g.100395649C>T Copied from the Exome Variant Server CENPI_000061 1/10563 0/6728 1/3835
1 c.1476T>C r.(=) p.(=) g.100395660T>C Copied from the Exome Variant Server CENPI_000062 1/10563 1/6728 0/3835
1 c.1479G>T r.(=) p.(=) g.100395663G>T Copied from the Exome Variant Server CENPI_000063 3243/10563 1659/6728 1584/3835
1 c.1485G>A r.(=) p.(=) g.100395669G>A Copied from the Exome Variant Server CENPI_000064 14/10563 12/6728 2/3835
1 c.1487G>C r.(?) p.(Ser496Thr) g.100395671G>C Copied from the Exome Variant Server CENPI_000065 1/10563 1/6728 0/3835
1 c.1540A>G r.(?) p.(Met514Val) g.100395724A>G Copied from the Exome Variant Server CENPI_000066 1/10563 1/6728 0/3835
1 c.1565+14C>T r.(=) p.(=) g.100395763C>T Copied from the Exome Variant Server CENPI_000067 2/10563 0/6728 2/3835
1 c.1565+30A>G r.(=) p.(=) g.100395779A>G Copied from the Exome Variant Server CENPI_000068 1/10563 0/6728 1/3835
1 c.1565+33A>G r.(=) p.(=) g.100395782A>G Copied from the Exome Variant Server CENPI_000069 1/10563 1/6728 0/3835
1 c.1565+42C>A r.(=) p.(=) g.100395791C>A Copied from the Exome Variant Server CENPI_000070 1/10563 1/6728 0/3835
1 c.1566-30A>G r.(=) p.(=) g.100400023A>G Copied from the Exome Variant Server CENPI_000071 8581/10563 5040/6728 3541/3835
1 c.1642A>C r.(?) p.(Met548Leu) g.100400129A>C Copied from the Exome Variant Server CENPI_000072 5/10563 0/6728 5/3835
1 c.1667T>C r.(?) p.(Phe556Ser) g.100400154T>C Copied from the Exome Variant Server CENPI_000073 24/10563 21/6728 3/3835
1 c.1701+9C>G r.(=) p.(=) g.100400197C>G Copied from the Exome Variant Server CENPI_000074 1/10563 1/6728 0/3835
1 c.1702-25C>T r.(=) p.(=) g.100401117C>T Copied from the Exome Variant Server CENPI_000075 1/10563 1/6728 0/3835
1 c.1797C>T r.(=) p.(=) g.100401237C>T Copied from the Exome Variant Server CENPI_000076 2/10563 2/6728 0/3835
1 c.1817T>C r.(?) p.(Ile606Thr) g.100401257T>C Copied from the Exome Variant Server CENPI_000077 1/10563 1/6728 0/3835
1 c.1826+8G>A r.(=) p.(=) g.100401274G>A Copied from the Exome Variant Server CENPI_000078 1/10563 1/6728 0/3835
1 c.1826+26G>A r.(=) p.(=) g.100401292G>A Copied from the Exome Variant Server CENPI_000079 1/10563 1/6728 0/3835
1 c.1826+28A>C r.(=) p.(=) g.100401294A>C Copied from the Exome Variant Server CENPI_000080 1/10563 1/6728 0/3835
1 c.1826+34G>A r.(=) p.(=) g.100401300G>A Copied from the Exome Variant Server CENPI_000081 5/10563 4/6728 1/3835
1 c.1827-73del r.(=) p.(=) g.100402679del Copied from the Exome Variant Server CENPI_000082 22/10161 12/6450 10/3711
1 c.1827-49A>G r.(=) p.(=) g.100402703A>G Copied from the Exome Variant Server CENPI_000083 1/10551 0/6719 1/3832
1 c.1848C>T r.(=) p.(=) g.100402773C>T Copied from the Exome Variant Server CENPI_000084 7/10558 0/6723 7/3835
1 c.1876-16A>C r.(=) p.(=) g.100402916A>C Copied from the Exome Variant Server CENPI_000085 1/10559 1/6728 0/3831
1 c.1917A>C r.(?) p.(Glu639Asp) g.100402973A>C Copied from the Exome Variant Server CENPI_000086 2/10563 0/6728 2/3835
1 c.2025A>G r.(=) p.(=) g.100403081A>G Copied from the Exome Variant Server CENPI_000087 1/10563 0/6728 1/3835
1 c.2094+42C>T r.(=) p.(=) g.100403192C>T Copied from the Exome Variant Server CENPI_000088 459/10560 426/6725 33/3835
1 c.2095-50A>G r.(=) p.(=) g.100416467A>G Copied from the Exome Variant Server CENPI_000089 1/10559 1/6724 0/3835
1 c.2136+37A>G r.(=) p.(=) g.100416595A>G Copied from the Exome Variant Server CENPI_000090 1/10561 1/6726 0/3835
1 c.2136+49T>G r.(=) p.(=) g.100416607T>G Copied from the Exome Variant Server CENPI_000092 2/10561 0/6726 2/3835
1 c.2136+64T>C r.(=) p.(=) g.100416622T>C Copied from the Exome Variant Server CENPI_000094 152/3598 144/2389 8/1209
1 c.2136+65A>T r.(=) p.(=) g.100416623A>T Copied from the Exome Variant Server CENPI_000095 854/3598 604/2389 250/1209
1 c.2170T>C r.(?) p.(Phe724Leu) g.100417855T>C Copied from the Exome Variant Server CENPI_000096 2/10563 2/6728 0/3835
1 c.2233del r.(?) p.(Arg746Glufs*5) g.100417918del Copied from the Exome Variant Server CENPI_000091 2/10203 2/6482 0/3721
1 c.*18C>T r.(=) p.(=) g.100417974C>T Copied from the Exome Variant Server CENPI_000093 4/10563 3/6728 1/3835
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