Full data view for gene CEP192

Information The variants shown are described using the NM_032142.3 transcript reference sequence.

358 entries on 4 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.110G>T r.(?) p.(Gly37Val) g.12999533G>T Copied from the Exome Variant Server CEP192_000001 1/4566 1/3182 0/1384 - - - - - - -
?/? c.165-46T>A r.(=) p.(=) g.13001410T>A Copied from the Exome Variant Server CEP192_000002 21/4566 0/3182 21/1384 - - - - - - -
?/? c.199G>A r.(?) p.(Gly67Arg) g.13001490G>A Copied from the Exome Variant Server CEP192_000003 50/4566 0/3182 50/1384 - - - - - - -
?/? c.283_285del r.(?) p.(Asp97del) g.13001574_13001576del Copied from the Exome Variant Server CEP192_000004 1/6358 0/4214 1/2144 - - - - - - -
?/? c.286G>A r.(?) p.(Asp96Asn) g.13001577G>A Copied from the Exome Variant Server CEP192_000005 1/4566 1/3182 0/1384 - - - - - - -
?/? c.290+11A>G r.(=) p.(=) g.13001592A>G Copied from the Exome Variant Server CEP192_000006 11/4566 0/3182 11/1384 - - - - - - -
?/? c.363A>C r.(?) p.(Leu121Phe) g.13008527A>C Copied from the Exome Variant Server CEP192_000007 1/4566 1/3182 0/1384 - - - - - - -
?/? c.413C>G r.(?) p.(Ser138Cys) g.13008577C>G Copied from the Exome Variant Server CEP192_000008 6/4566 0/3182 6/1384 - - - - - - -
?/? c.519+76_519+77del r.(=) p.(=) g.13013100_13013101del Copied from the Exome Variant Server CEP192_000009 2/5730 0/3850 2/1880 - - - - - - -
?/? c.520-36A>G r.(=) p.(=) g.13015291A>G Copied from the Exome Variant Server CEP192_000010 259/4566 152/3182 107/1384 - - - - - - -
?/? c.520-3T>C r.spl? p.? g.13015324T>C Copied from the Exome Variant Server CEP192_000011 5/4566 5/3182 0/1384 - - - - - - -
?/? c.520A>C r.(?) p.(Ile174Leu) g.13015327A>C Copied from the Exome Variant Server CEP192_000012 8/4566 0/3182 8/1384 - - - - - - -
?/? c.582C>G r.(?) p.(His194Gln) g.13015389C>G Copied from the Exome Variant Server CEP192_000013 29/4566 28/3182 1/1384 - - - - - - -
?/? c.640+43A>C r.(=) p.(=) g.13015490A>C Copied from the Exome Variant Server CEP192_000014 48/4566 0/3182 48/1384 - - - - - - -
?/? c.820T>C r.(?) p.(Phe274Leu) g.13018509T>C Copied from the Exome Variant Server CEP192_000015 28/4566 1/3182 27/1384 - - - - - - -
?/? c.925+53del r.(=) p.(=) g.13018667del Copied from the Exome Variant Server CEP192_000016 496/5160 370/3514 126/1646 - - - - - - -
?/? c.1050T>C r.(=) p.(=) g.13019205T>C Copied from the Exome Variant Server CEP192_000017 34/4556 1/3172 33/1384 - - - - - - -
?/? c.1050+46del r.(=) p.(=) g.13019251del Copied from the Exome Variant Server CEP192_000018 1/5424 0/3698 1/1726 - - - - - - -
?/? c.1390+21_1390+22insTT r.(=) p.(=) g.13030022_13030023insTT Copied from the Exome Variant Server CEP192_000019 1/5884 1/3960 0/1924 - - - - - - -
?/? c.1534+10T>C r.(=) p.(=) g.13030617T>C Copied from the Exome Variant Server CEP192_000020 492/13000 6/8594 486/4406 - - - - - - -
?/? c.1535-49del r.(=) p.(=) g.13037187del Copied from the Exome Variant Server CEP192_000021 20/5834 4/3934 16/1900 - - - - - - -
?/? c.1535-28del r.(=) p.(=) g.13037208del Copied from the Exome Variant Server CEP192_000022 1/5766 0/3904 1/1862 - - - - - - -
?/? c.1564_1566del r.(?) p.(Glu524del) g.13037265_13037267del Copied from the Exome Variant Server CEP192_000023 2/5442 2/3686 0/1756 - - - - - - -
?/? c.1662A>G r.(=) p.(=) g.13038431A>G Copied from the Exome Variant Server CEP192_000024 180/4566 117/3182 63/1384 - - - - - - -
?/? c.1740T>C r.(=) p.(=) g.13038509T>C Copied from the Exome Variant Server CEP192_000025 1/4566 0/3182 1/1384 - - - - - - -
?/? c.1810-33C>T r.(=) p.(=) g.13040796C>T Copied from the Exome Variant Server CEP192_000026 1/12912 0/8552 1/4360 - - - - - - -
?/? c.1839A>G r.(=) p.(=) g.13040858A>G Copied from the Exome Variant Server CEP192_000027 159/13000 1/8594 158/4406 - - - - - - -
?/? c.1869A>G r.(=) p.(=) g.13040888A>G Copied from the Exome Variant Server CEP192_000028 3/13000 3/8594 0/4406 - - - - - - -
?/? c.1895T>C r.(?) p.(Leu632Ser) g.13040914T>C Copied from the Exome Variant Server CEP192_000029 1/13000 0/8594 1/4406 - - - - - - -
?/? c.1913A>G r.(?) p.(His638Arg) g.13040932A>G Copied from the Exome Variant Server CEP192_000030 1/12996 0/8590 1/4406 - - - - - - -
?/? c.1922A>G r.(?) p.(His641Arg) g.13040941A>G Copied from the Exome Variant Server CEP192_000031 1/12994 1/8588 0/4406 - - - - - - -
?/? c.1929A>G r.(=) p.(=) g.13040948A>G Copied from the Exome Variant Server CEP192_000032 1/12994 0/8588 1/4406 - - - - - - -
?/? c.1936+33_1936+34insT r.(=) p.(=) g.13040988_13040989insT Copied from the Exome Variant Server CEP192_000033 5/12496 2/8234 3/4262 - - - - - - -
?/? c.1981A>G r.(?) p.(Ile661Val) g.13042247A>G Copied from the Exome Variant Server CEP192_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2001A>G r.(=) p.(=) g.13042267A>G Copied from the Exome Variant Server CEP192_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2045C>T r.(?) p.(Thr682Met) g.13042311C>T Copied from the Exome Variant Server CEP192_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2067+16C>T r.(=) p.(=) g.13042349C>T Copied from the Exome Variant Server CEP192_000037 3/13006 3/8600 0/4406 - - - - - - -
?/? c.2068-48C>T r.(=) p.(=) g.13048810C>T Copied from the Exome Variant Server CEP192_000038 2/13002 0/8598 2/4404 - - - - - - -
?/? c.2075T>G r.(?) p.(Phe692Cys) g.13048865T>G Copied from the Exome Variant Server CEP192_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2092C>T r.(?) p.(Pro698Ser) g.13048882C>T Copied from the Exome Variant Server CEP192_000040 3/13006 0/8600 3/4406 - - - - - - -
?/? c.2151_2152insATTG r.(?) p.(Ala719Aspfs*11) g.13048941_13048942insATTG Copied from the Exome Variant Server CEP192_000041 2/12518 2/8254 0/4264 - - - - - - -
?/? c.2219C>G r.(?) p.(Ala740Gly) g.13049009C>G Copied from the Exome Variant Server CEP192_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2230A>G r.(?) p.(Lys744Glu) g.13049020A>G Copied from the Exome Variant Server CEP192_000043 7/13006 7/8600 0/4406 - - - - - - -
?/? c.2235C>T r.(=) p.(=) g.13049025C>T Copied from the Exome Variant Server CEP192_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2276A>G r.(?) p.(Tyr759Cys) g.13049066A>G Copied from the Exome Variant Server CEP192_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2324G>A r.(?) p.(Gly775Glu) g.13049114G>A Copied from the Exome Variant Server CEP192_000046 6/13006 0/8600 6/4406 - - - - - - -
?/? c.2328C>T r.(=) p.(=) g.13049118C>T Copied from the Exome Variant Server CEP192_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2360A>G r.(?) p.(Lys787Arg) g.13049150A>G Copied from the Exome Variant Server CEP192_000048 10/13006 1/8600 9/4406 - - - - - - -
?/? c.2389T>C r.(=) p.(=) g.13049179T>C Copied from the Exome Variant Server CEP192_000049 9/13006 0/8600 9/4406 - - - - - - -
?/? c.2423C>T r.(?) p.(Thr808Ile) g.13049213C>T Copied from the Exome Variant Server CEP192_000050 7/13006 5/8600 2/4406 - - - - - - -
?/? c.2474T>C r.(?) p.(Val825Ala) g.13049264T>C Copied from the Exome Variant Server CEP192_000051 4/13006 4/8600 0/4406 - - - - - - -
?/? c.2489C>T r.(?) p.(Thr830Ile) g.13049279C>T Copied from the Exome Variant Server CEP192_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2492G>T r.(?) p.(Ser831Ile) g.13049282G>T Copied from the Exome Variant Server CEP192_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2494G>A r.(?) p.(Val832Ile) g.13049284G>A Copied from the Exome Variant Server CEP192_000054 6/13006 0/8600 6/4406 - - - - - - -
?/? c.2498G>A r.(?) p.(Ser833Asn) g.13049288G>A Copied from the Exome Variant Server CEP192_000055 5/13006 0/8600 5/4406 - - - - - - -
?/? c.2528C>T r.(?) p.(Ala843Val) g.13049318C>T Copied from the Exome Variant Server CEP192_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2530A>G r.(?) p.(Ile844Val) g.13049320A>G Copied from the Exome Variant Server CEP192_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2543A>G r.(?) p.(Glu848Gly) g.13049333A>G Copied from the Exome Variant Server CEP192_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2548_2551del r.(?) p.(Gly850Argfs*11) g.13049338_13049341del Copied from the Exome Variant Server CEP192_000059 1/12518 0/8254 1/4264 - - - - - - -
?/? c.2573T>C r.(?) p.(Phe858Ser) g.13049363T>C Copied from the Exome Variant Server CEP192_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2634T>C r.(=) p.(=) g.13049424T>C Copied from the Exome Variant Server CEP192_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.2682T>C r.(=) p.(=) g.13049472T>C Copied from the Exome Variant Server CEP192_000062 1/13006 0/8600 1/4406 - - - - - - -
?/? c.2707C>T r.(?) p.(Pro903Ser) g.13049497C>T Copied from the Exome Variant Server CEP192_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2721T>C r.(=) p.(=) g.13049511T>C Copied from the Exome Variant Server CEP192_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2728G>A r.(?) p.(Val910Met) g.13049518G>A Copied from the Exome Variant Server CEP192_000065 6/13006 5/8600 1/4406 - - - - - - -
?/? c.2791_2792del r.(?) p.(Glu932Lysfs*6) g.13049581_13049582del Copied from the Exome Variant Server CEP192_000066 7/12510 1/8250 6/4260 - - - - - - -
?/? c.2829A>G r.(?) p.(Ile943Met) g.13049619A>G Copied from the Exome Variant Server CEP192_000067 1/12964 0/8588 1/4376 - - - - - - -
?/? c.2890+1_2890+4del r.spl? p.? g.13049681_13049684del Copied from the Exome Variant Server CEP192_000068 6/12498 6/8248 0/4250 - - - - - - -
?/? c.2890+15C>T r.(=) p.(=) g.13049695C>T Copied from the Exome Variant Server CEP192_000069 1/13004 1/8598 0/4406 - - - - - - -
?/? c.2890+16G>A r.(=) p.(=) g.13049696G>A Copied from the Exome Variant Server CEP192_000070 1/13004 0/8598 1/4406 - - - - - - -
?/? c.2911G>C r.(?) p.(Glu971Gln) g.13049784G>C Copied from the Exome Variant Server CEP192_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.2923C>T r.(?) p.(Arg975Cys) g.13049796C>T Copied from the Exome Variant Server CEP192_000072 2/13006 2/8600 0/4406 - - - - - - -
?/? c.2924G>A r.(?) p.(Arg975His) g.13049797G>A Copied from the Exome Variant Server CEP192_000073 4/13006 2/8600 2/4406 - - - - - - -
?/? c.2939_2942del r.(?) p.(Glu980Glyfs*11) g.13049812_13049815del Copied from the Exome Variant Server CEP192_000074 42/12518 1/8254 41/4264 - - - - - - -
?/? c.2940_2942del r.(?) p.(Gln981del) g.13049813_13049815del Copied from the Exome Variant Server CEP192_000075 153/12518 35/8254 118/4264 - - - - - - -
?/? c.2941_2942del r.(?) p.(Gln981Glyfs*16) g.13049814_13049815del Copied from the Exome Variant Server CEP192_000076 159/12518 4/8254 155/4264 - - - - - - -
?/? c.3005C>T r.(?) p.(Thr1002Met) g.13049878C>T Copied from the Exome Variant Server CEP192_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3006G>A r.(=) p.(=) g.13049879G>A Copied from the Exome Variant Server CEP192_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3017+31A>G r.(=) p.(=) g.13049921A>G Copied from the Exome Variant Server CEP192_000080 15/13006 0/8600 15/4406 - - - - - - -
?/? c.3017+38G>A r.(=) p.(=) g.13049928G>A Copied from the Exome Variant Server CEP192_000082 22/13006 19/8600 3/4406 - - - - - - -
?/? c.3018-51G>T r.(=) p.(=) g.13052867G>T Copied from the Exome Variant Server CEP192_000084 108/13006 23/8600 85/4406 - - - - - - -
?/? c.3018-28C>A r.(=) p.(=) g.13052890C>A Copied from the Exome Variant Server CEP192_000086 1/13002 0/8596 1/4406 - - - - - - -
?/? c.3018-9C>T r.(=) p.(=) g.13052909C>T Copied from the Exome Variant Server CEP192_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3024G>A r.(=) p.(=) g.13052924G>A Copied from the Exome Variant Server CEP192_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3027A>G r.(=) p.(=) g.13052927A>G Copied from the Exome Variant Server CEP192_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3041C>T r.(?) p.(Ser1014Leu) g.13052941C>T Copied from the Exome Variant Server CEP192_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3098C>T r.(?) p.(Ser1033Leu) g.13052998C>T Copied from the Exome Variant Server CEP192_000083 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3099G>A r.(=) p.(=) g.13052999G>A Copied from the Exome Variant Server CEP192_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3130T>A r.(?) p.(Ser1044Thr) g.13053030T>A Copied from the Exome Variant Server CEP192_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.3157A>G r.(?) p.(Thr1053Ala) g.13053057A>G Copied from the Exome Variant Server CEP192_000089 106/13006 0/8600 106/4406 - - - - - - -
?/? c.3166G>T r.(?) p.(Asp1056Tyr) g.13053066G>T Copied from the Exome Variant Server CEP192_000091 10/13006 0/8600 10/4406 - - - - - - -
?/? c.3189+40A>G r.(=) p.(=) g.13053129A>G Copied from the Exome Variant Server CEP192_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3190-14T>G r.(=) p.(=) g.13055765T>G Copied from the Exome Variant Server CEP192_000093 45/12998 0/8596 45/4402 - - - - - - -
?/? c.3194A>G r.(?) p.(Asp1065Gly) g.13055783A>G Copied from the Exome Variant Server CEP192_000094 2/13006 2/8600 0/4406 - - - - - - -
?/? c.3253C>T r.(?) p.(Arg1085Trp) g.13055842C>T Copied from the Exome Variant Server CEP192_000095 8/13006 7/8600 1/4406 - - - - - - -
?/? c.3326A>C r.(?) p.(Gln1109Pro) g.13055915A>C Copied from the Exome Variant Server CEP192_000096 298/13006 276/8600 22/4406 - - - - - - -
?/? c.3433G>A r.(?) p.(Gly1145Arg) g.13056022G>A Copied from the Exome Variant Server CEP192_000097 17/13006 0/8600 17/4406 - - - - - - -
?/? c.3457G>A r.(?) p.(Val1153Ile) g.13056046G>A Copied from the Exome Variant Server CEP192_000098 13/13006 13/8600 0/4406 - - - - - - -
?/? c.3468A>G r.(=) p.(=) g.13056057A>G Copied from the Exome Variant Server CEP192_000099 1/13006 0/8600 1/4406 - - - - - - -
?/? c.3476C>G r.(?) p.(Pro1159Arg) g.13056065C>G Copied from the Exome Variant Server CEP192_000100 164/13006 1/8600 163/4406 - - - - - - -
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