Full data view for gene CEP57

Information The variants shown are described using the NM_014679.4 transcript reference sequence.

111 entries on 2 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.-53A>G r.(=) p.(=) g.95523810A>G Copied from the Exome Variant Server CEP57_000001 294/4566 152/3182 142/1384 - - - - - - -
?/? c.-51G>C r.(=) p.(=) g.95523812G>C Copied from the Exome Variant Server CEP57_000002 1/12964 0/8576 1/4388 - - - - - - -
?/? c.-28T>C r.(=) p.(=) g.95523835T>C Copied from the Exome Variant Server CEP57_000003 108/12994 103/8596 5/4398 - - - - - - -
?/? c.-15T>G r.(=) p.(=) g.95523848T>G Copied from the Exome Variant Server CEP57_000004 13/12996 0/8596 13/4400 - - - - - - -
?/? c.25G>A r.(?) p.(Ala9Thr) g.95523887G>A Copied from the Exome Variant Server CEP57_000005 7/12998 6/8596 1/4402 - - - - - - -
?/? c.45+16C>T r.(=) p.(=) g.95523923C>T Copied from the Exome Variant Server CEP57_000006 1/12998 1/8596 0/4402 - - - - - - -
?/? c.45+50_45+51del r.(=) p.(=) g.95523957_95523958del Copied from the Exome Variant Server CEP57_000007 73/12518 63/8254 10/4264 - - - - - - -
?/? c.45+65G>A r.(=) p.(=) g.95523972G>A Copied from the Exome Variant Server CEP57_000008 1/4566 0/3182 1/1384 - - - - - - -
?/? c.46-41G>C r.(=) p.(=) g.95532355G>C Copied from the Exome Variant Server CEP57_000009 1/12998 1/8596 0/4402 - - - - - - -
?/? c.182A>G r.(?) p.(Tyr61Cys) g.95532532A>G Copied from the Exome Variant Server CEP57_000010 1/12998 0/8596 1/4402 - - - - - - -
?/? c.195C>T r.(=) p.(=) g.95532545C>T Copied from the Exome Variant Server CEP57_000011 1/12998 0/8596 1/4402 - - - - - - -
?/? c.202+35del r.(=) p.(=) g.95532587del Copied from the Exome Variant Server CEP57_000012 232/12518 217/8254 15/4264 - - - - - - -
?/? c.202+42G>T r.(=) p.(=) g.95532594G>T Copied from the Exome Variant Server CEP57_000013 27/12998 26/8596 1/4402 - - - - - - -
?/? c.203-45C>T r.(=) p.(=) g.95546051C>T Copied from the Exome Variant Server CEP57_000014 1/12998 1/8596 0/4402 - - - - - - -
?/? c.203-35G>A r.(=) p.(=) g.95546061G>A Copied from the Exome Variant Server CEP57_000015 1/12998 0/8596 1/4402 - - - - - - -
?/? c.226C>G r.(?) p.(Leu76Val) g.95546119C>G Copied from the Exome Variant Server CEP57_000017 1/12998 1/8596 0/4402 - - - - - - -
?/? c.244C>T r.(?) p.(Arg82Cys) g.95546137C>T Copied from the Exome Variant Server CEP57_000019 1/12998 1/8596 0/4402 - - - - - - -
?/? c.245G>A r.(?) p.(Arg82His) g.95546138G>A Copied from the Exome Variant Server CEP57_000021 1/12998 1/8596 0/4402 - - - - - - -
?/? c.333G>C r.(?) p.(Gln111His) g.95546226G>C Copied from the Exome Variant Server CEP57_000024 76/12998 73/8596 3/4402 - - - - - - -
?/? c.366A>C r.(?) p.(Glu122Asp) g.95546259A>C Copied from the Exome Variant Server CEP57_000026 2/12998 2/8596 0/4402 - - - - - - -
?/? c.382+7_382+9del r.(=) p.(=) g.95546282_95546284del Copied from the Exome Variant Server CEP57_000028 1/12512 1/8252 0/4260 - - - - - - -
?/? c.382+29del r.(=) p.(=) g.95546304del Copied from the Exome Variant Server CEP57_000030 25/12458 14/8226 11/4232 - - - - - - -
?/? c.382+35A>G r.(=) p.(=) g.95546310A>G Copied from the Exome Variant Server CEP57_000032 1/12938 0/8566 1/4372 - - - - - - -
?/? c.382+40_382+42del r.(=) p.(=) g.95546315_95546317del Copied from the Exome Variant Server CEP57_000034 10/12416 1/8208 9/4208 - - - - - - -
?/? c.382+48A>T r.(=) p.(=) g.95546323A>T Copied from the Exome Variant Server CEP57_000037 2/12866 1/8538 1/4328 - - - - - - -
?/? c.383-33T>A r.(=) p.(=) g.95546599T>A Copied from the Exome Variant Server CEP57_000040 1/12998 1/8596 0/4402 - - - - - - -
?/? c.410A>C r.(?) p.(Glu137Ala) g.95546659A>C Copied from the Exome Variant Server CEP57_000042 7/12998 0/8596 7/4402 - - - - - - -
?/? c.422A>G r.(?) p.(Asn141Ser) g.95546671A>G Copied from the Exome Variant Server CEP57_000045 1/12998 1/8596 0/4402 - - - - - - -
?/? c.473A>G r.(?) p.(Glu158Gly) g.95546722A>G Copied from the Exome Variant Server CEP57_000016 1/12998 1/8596 0/4402 - - - - - - -
?/? c.501A>G r.(=) p.(=) g.95546750A>G Copied from the Exome Variant Server CEP57_000018 5/12998 5/8596 0/4402 - - - - - - -
?/? c.504+22T>C r.(=) p.(=) g.95546775T>C Copied from the Exome Variant Server CEP57_000020 5/12996 2/8594 3/4402 - - - - - - -
?/? c.504+31A>G r.(=) p.(=) g.95546784A>G Copied from the Exome Variant Server CEP57_000022 1/12996 0/8594 1/4402 - - - - - - -
?/? c.504+39T>C r.(=) p.(=) g.95546792T>C Copied from the Exome Variant Server CEP57_000023 87/12996 3/8594 84/4402 - - - - - - -
?/? c.505-21G>A r.(=) p.(=) g.95550930G>A Copied from the Exome Variant Server CEP57_000025 1/12998 1/8596 0/4402 - - - - - - -
?/? c.534T>C r.(=) p.(=) g.95550980T>C Copied from the Exome Variant Server CEP57_000027 1/12998 0/8596 1/4402 - - - - - - -
?/? c.540A>G r.(=) p.(=) g.95550986A>G Copied from the Exome Variant Server CEP57_000029 1/12998 0/8596 1/4402 - - - - - - -
?/? c.572T>A r.(?) p.(Leu191His) g.95551018T>A Copied from the Exome Variant Server CEP57_000031 7/12998 6/8596 1/4402 - - - - - - -
?/? c.622-38del r.(=) p.(=) g.95551953del Copied from the Exome Variant Server CEP57_000033 101/12518 29/8254 72/4264 - - - - - - -
?/? c.622-6_622-5del N/A N/A g.95551985_95551986del Copied from the Exome Variant Server CEP57_000036 53/12518 46/8254 7/4264 - - - - - - -
?/? c.624A>C r.(?) p.(Lys208Asn) g.95551993A>C Copied from the Exome Variant Server CEP57_000039 1/12998 0/8596 1/4402 - - - - - - -
?/? c.628A>G r.(?) p.(Met210Val) g.95551997A>G Copied from the Exome Variant Server CEP57_000043 1/12998 1/8596 0/4402 - - - - - - -
?/? c.632A>G r.(?) p.(Gln211Arg) g.95552001A>G Copied from the Exome Variant Server CEP57_000046 1/12998 0/8596 1/4402 - - - - - - -
?/? c.657A>G r.(=) p.(=) g.95552026A>G Copied from the Exome Variant Server CEP57_000048 1/12998 0/8596 1/4402 - - - - - - -
?/? c.676C>T r.(?) p.(Arg226Cys) g.95552045C>T Copied from the Exome Variant Server CEP57_000050 1/12998 1/8596 0/4402 - - - - - - -
?/? c.677G>A r.(?) p.(Arg226His) g.95552046G>A Copied from the Exome Variant Server CEP57_000052 28/12998 1/8596 27/4402 - - - - - - -
?/? c.699+28C>T r.(=) p.(=) g.95552096C>T Copied from the Exome Variant Server CEP57_000054 1/12998 1/8596 0/4402 - - - - - - -
?/? c.699+42C>T r.(=) p.(=) g.95552110C>T Copied from the Exome Variant Server CEP57_000056 1/12998 1/8596 0/4402 - - - - - - -
?/? c.699+44G>A r.(=) p.(=) g.95552112G>A Copied from the Exome Variant Server CEP57_000058 37/12998 32/8596 5/4402 - - - - - - -
?/? c.699+46del r.(=) p.(=) g.95552114del Copied from the Exome Variant Server CEP57_000060 2/12518 2/8254 0/4264 - - - - - - -
?/? c.700-51_700-50insT r.(=) p.(=) g.95554984_95554985insT Copied from the Exome Variant Server CEP57_000062 1/12514 1/8254 0/4260 - - - - - - -
?/? c.719C>A r.(?) p.(Thr240Lys) g.95555054C>A Copied from the Exome Variant Server CEP57_000064 1/12998 1/8596 0/4402 - - - - - - -
?/? c.751C>T r.(?) p.(Pro251Ser) g.95555086C>T Copied from the Exome Variant Server CEP57_000066 1/12998 1/8596 0/4402 - - - - - - -
?/? c.753G>A r.(=) p.(=) g.95555088G>A Copied from the Exome Variant Server CEP57_000068 476/12998 435/8596 41/4402 - - - - - - -
?/? c.775A>G r.(?) p.(Ile259Val) g.95555110A>G Copied from the Exome Variant Server CEP57_000035 1/12996 1/8594 0/4402 - - - - - - -
?/? c.791C>G r.(?) p.(Ser264*) g.95555126C>G Copied from the Exome Variant Server CEP57_000038 1/12998 0/8596 1/4402 - - - - - - -
?/? c.798A>G r.(=) p.(=) g.95555133A>G Copied from the Exome Variant Server CEP57_000041 390/12998 355/8596 35/4402 - - - - - - -
?/? c.807+3G>A r.spl? p.? g.95555145G>A Copied from the Exome Variant Server CEP57_000044 99/12998 2/8596 97/4402 - - - - - - -
?/? c.807+22del r.(=) p.(=) g.95555164del Copied from the Exome Variant Server CEP57_000047 1/12518 0/8254 1/4264 - - - - - - -
?/? c.807+23G>A r.(=) p.(=) g.95555165G>A Copied from the Exome Variant Server CEP57_000049 4/12998 0/8596 4/4402 - - - - - - -
?/? c.807+48G>C r.(=) p.(=) g.95555190G>C Copied from the Exome Variant Server CEP57_000051 2/12998 0/8596 2/4402 - - - - - - -
?/? c.807+51_807+52del r.(=) p.(=) g.95555193_95555194del Copied from the Exome Variant Server CEP57_000053 1/12512 1/8248 0/4264 - - - - - - -
?/? c.808-22T>C r.(=) p.(=) g.95555641T>C Copied from the Exome Variant Server CEP57_000055 1/12998 1/8596 0/4402 - - - - - - -
?/? c.808-16T>G r.(=) p.(=) g.95555647T>G Copied from the Exome Variant Server CEP57_000057 1/12998 1/8596 0/4402 - - - - - - -
?/? c.808-6A>T r.(=) p.(=) g.95555657A>T Copied from the Exome Variant Server CEP57_000059 1/12998 0/8596 1/4402 - - - - - - -
?/? c.811A>C r.(?) p.(Ser271Arg) g.95555666A>C Copied from the Exome Variant Server CEP57_000061 1/12998 0/8596 1/4402 - - - - - - -
?/? c.818G>T r.(?) p.(Arg273Met) g.95555673G>T Copied from the Exome Variant Server CEP57_000063 1/12998 0/8596 1/4402 - - - - - - -
?/? c.885+37A>G r.(=) p.(=) g.95555777A>G Copied from the Exome Variant Server CEP57_000065 45/12998 0/8596 45/4402 - - - - - - -
?/? c.885+49A>C r.(=) p.(=) g.95555789A>C Copied from the Exome Variant Server CEP57_000067 1/12998 0/8596 1/4402 - - - - - - -
?/? c.886-40A>G r.(=) p.(=) g.95560910A>G Copied from the Exome Variant Server CEP57_000069 1/12998 1/8596 0/4402 - - - - - - -
?/? c.886-27C>T r.(=) p.(=) g.95560923C>T Copied from the Exome Variant Server CEP57_000070 1/12998 1/8596 0/4402 - - - - - - -
?/? c.886-10C>T r.(=) p.(=) g.95560940C>T Copied from the Exome Variant Server CEP57_000071 1/12998 0/8596 1/4402 - - - - - - -
?/? c.886-10_886-7del r.(=) p.(=) g.95560940_95560943del Copied from the Exome Variant Server CEP57_000072 3/12518 2/8254 1/4264 - - - - - - -
?/? c.886-7C>A r.(=) p.(=) g.95560943C>A Copied from the Exome Variant Server CEP57_000073 10/12998 0/8596 10/4402 - - - - - - -
?/? c.907G>A r.(?) p.(Val303Met) g.95560971G>A Copied from the Exome Variant Server CEP57_000074 1/12998 0/8596 1/4402 - - - - - - -
?/? c.915C>G r.(=) p.(=) g.95560979C>G Copied from the Exome Variant Server CEP57_000075 1/12998 0/8596 1/4402 - - - - - - -
?/? c.935A>T r.(?) p.(His312Leu) g.95560999A>T Copied from the Exome Variant Server CEP57_000076 1/12998 1/8596 0/4402 - - - - - - -
?/? c.939A>G r.(=) p.(=) g.95561003A>G Copied from the Exome Variant Server CEP57_000077 1/12998 1/8596 0/4402 - - - - - - -
?/? c.949C>T r.(?) p.(His317Tyr) g.95561013C>T Copied from the Exome Variant Server CEP57_000078 7/12998 6/8596 1/4402 - - - - - - -
?/? c.952A>G r.(?) p.(Ser318Gly) g.95561016A>G Copied from the Exome Variant Server CEP57_000079 1/12998 0/8596 1/4402 - - - - - - -
?/? c.979A>G r.(?) p.(Ile327Val) g.95561043A>G Copied from the Exome Variant Server CEP57_000080 65/12998 0/8596 65/4402 - - - - - - -
?/? c.1016G>T r.(?) p.(Arg339Leu) g.95561080G>T Copied from the Exome Variant Server CEP57_000081 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1033A>C r.(?) p.(Lys345Gln) g.95561097A>C Copied from the Exome Variant Server CEP57_000082 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1036T>C r.(=) p.(=) g.95561100T>C Copied from the Exome Variant Server CEP57_000083 41/12998 0/8596 41/4402 - - - - - - -
?/? c.1062C>T r.(=) p.(=) g.95561126C>T Copied from the Exome Variant Server CEP57_000084 2/12998 0/8596 2/4402 - - - - - - -
?/? c.1064G>A r.(?) p.(Gly355Asp) g.95561128G>A Copied from the Exome Variant Server CEP57_000085 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1123A>C r.(?) p.(Ser375Arg) g.95561187A>C Copied from the Exome Variant Server CEP57_000086 2/12996 0/8594 2/4402 - - - - - - -
?/? c.1127+8T>G r.(=) p.(=) g.95561199T>G Copied from the Exome Variant Server CEP57_000087 2/12946 1/8584 1/4362 - - - - - - -
?/? c.1127+12del r.(=) p.(=) g.95561203del Copied from the Exome Variant Server CEP57_000089 322/12306 213/8198 109/4108 - - - - - - -
?/? c.1127+12dup r.(=) p.(=) g.95561203dup Copied from the Exome Variant Server CEP57_000088 115/12306 62/8198 53/4108 - - - - - - -
?/? c.1127+22T>A r.(=) p.(=) g.95561213T>A Copied from the Exome Variant Server CEP57_000090 7/12828 1/8554 6/4274 - - - - - - -
?/? c.1128-40C>T r.(=) p.(=) g.95562311C>T Copied from the Exome Variant Server CEP57_000091 56/12998 53/8596 3/4402 - - - - - - -
?/? c.1128-24G>A r.(=) p.(=) g.95562327G>A Copied from the Exome Variant Server CEP57_000092 3821/12998 3290/8596 531/4402 - - - - - - -
?/? c.1147A>G r.(?) p.(Lys383Glu) g.95562370A>G Copied from the Exome Variant Server CEP57_000093 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1172T>C r.(?) p.(Val391Ala) g.95562395T>C Copied from the Exome Variant Server CEP57_000094 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1189T>C r.(=) p.(=) g.95562412T>C Copied from the Exome Variant Server CEP57_000095 1/12998 1/8596 0/4402 - - - - - - -
?/? c.1198G>A r.(?) p.(Glu400Lys) g.95562421G>A Copied from the Exome Variant Server CEP57_000096 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1206G>A r.(=) p.(=) g.95562429G>A Copied from the Exome Variant Server CEP57_000097 1/12998 0/8596 1/4402 - - - - - - -
?/? c.1272+7_1272+8del r.(=) p.(=) g.95562502_95562503del Copied from the Exome Variant Server CEP57_000098 13/12518 0/8254 13/4264 - - - - - - -
?/? c.1272+40_1272+41insA r.(=) p.(=) g.95562535_95562536insA Copied from the Exome Variant Server CEP57_000099 3604/12512 3027/8254 577/4258 - - - - - - -
?/? c.1272+40_1272+41insAA r.(=) p.(=) g.95562535_95562536insAA Copied from the Exome Variant Server CEP57_000100 130/12512 106/8254 24/4258 - - - - - - -
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