Full data view for gene RCOR1

Information The variants shown are described using the NM_015156.3 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.-25T>A r.(=) p.(=) g.103059199T>A Copied from the Exome Variant Server RCOR1_000001 46/5360 0/3846 46/1514 - - - - - - -
?/? c.181_183del r.(?) p.(Ala64del) g.103059404_103059406del Copied from the Exome Variant Server RCOR1_000002 17/3356 12/2422 5/934 - - - - - - -
?/? c.219_221del r.(?) p.(Ala77del) g.103059442_103059444del Copied from the Exome Variant Server RCOR1_000003 27/5956 18/4096 9/1860 - - - - - - -
?/? c.301+37G>T r.(=) p.(=) g.103059561G>T Copied from the Exome Variant Server RCOR1_000004 1/10250 1/6850 0/3400 - - - - - - -
?/? c.361+10_361+11del r.(=) p.(=) g.103059672_103059673del Copied from the Exome Variant Server RCOR1_000005 44/11342 13/7504 31/3838 - - - - - - -
?/? c.362C>T r.(?) p.(Ala121Val) g.103148232C>T Copied from the Exome Variant Server RCOR1_000006 2/13006 0/8600 2/4406 - - - - - - -
?/? c.422A>G r.(?) p.(Asn141Ser) g.103148292A>G Copied from the Exome Variant Server RCOR1_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.432G>C r.(=) p.(=) g.103148302G>C Copied from the Exome Variant Server RCOR1_000008 18/13006 14/8600 4/4406 - - - - - - -
?/? c.439G>A r.(?) p.(Ala147Thr) g.103148309G>A Copied from the Exome Variant Server RCOR1_000009 2/13006 0/8600 2/4406 - - - - - - -
?/? c.446-46A>G r.(=) p.(=) g.103167569A>G Copied from the Exome Variant Server RCOR1_000010 341/13006 28/8600 313/4406 - - - - - - -
?/? c.446-21G>T r.(=) p.(=) g.103167594G>T Copied from the Exome Variant Server RCOR1_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.446-13T>G r.(=) p.(=) g.103167602T>G Copied from the Exome Variant Server RCOR1_000012 2/13006 0/8600 2/4406 - - - - - - -
?/? c.498+4A>G r.spl? p.? g.103167671A>G Copied from the Exome Variant Server RCOR1_000013 1/13006 1/8600 0/4406 - - - - - - -
?/? c.498+9A>G r.(=) p.(=) g.103167676A>G Copied from the Exome Variant Server RCOR1_000014 342/13006 28/8600 314/4406 - - - - - - -
?/? c.498+22T>A r.(=) p.(=) g.103167689T>A Copied from the Exome Variant Server RCOR1_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.498+44del r.(=) p.(=) g.103167711del Copied from the Exome Variant Server RCOR1_000016 1/12518 1/8254 0/4264 - - - - - - -
?/? c.499-12T>C r.(=) p.(=) g.103173676T>C Copied from the Exome Variant Server RCOR1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.567C>A r.(=) p.(=) g.103173756C>A Copied from the Exome Variant Server RCOR1_000018 110/13006 96/8600 14/4406 - - - - - - -
?/? c.617C>G r.(?) p.(Ala206Gly) g.103173806C>G Copied from the Exome Variant Server RCOR1_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.651C>A r.(=) p.(=) g.103173840C>A Copied from the Exome Variant Server RCOR1_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.660+9A>G r.(=) p.(=) g.103173858A>G Copied from the Exome Variant Server RCOR1_000021 2/13004 0/8600 2/4404 - - - - - - -
?/? c.660+27A>G r.(=) p.(=) g.103173876A>G Copied from the Exome Variant Server RCOR1_000022 2/12992 0/8598 2/4394 - - - - - - -
?/? c.660+28del r.(=) p.(=) g.103173877del Copied from the Exome Variant Server RCOR1_000023 46/12474 28/8240 18/4234 - - - - - - -
?/? c.660+49C>T r.(=) p.(=) g.103173898C>T Copied from the Exome Variant Server RCOR1_000024 2/12916 2/8568 0/4348 - - - - - - -
?/? c.681A>G r.(=) p.(=) g.103174822A>G Copied from the Exome Variant Server RCOR1_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.717G>A r.(=) p.(=) g.103174858G>A Copied from the Exome Variant Server RCOR1_000026 2/13006 0/8600 2/4406 - - - - - - -
?/? c.775G>A r.(?) p.(Glu259Lys) g.103174916G>A Copied from the Exome Variant Server RCOR1_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.779+36G>A r.(=) p.(=) g.103174956G>A Copied from the Exome Variant Server RCOR1_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.780-50C>T r.(=) p.(=) g.103177222C>T Copied from the Exome Variant Server RCOR1_000029 2/13006 0/8600 2/4406 - - - - - - -
?/? c.780-49G>A r.(=) p.(=) g.103177223G>A Copied from the Exome Variant Server RCOR1_000031 106/13006 29/8600 77/4406 - - - - - - -
?/? c.780-40G>A r.(=) p.(=) g.103177232G>A Copied from the Exome Variant Server RCOR1_000030 126/13006 1/8600 125/4406 - - - - - - -
?/? c.817A>G r.(?) p.(Ile273Val) g.103177309A>G Copied from the Exome Variant Server RCOR1_000032 2/13006 0/8600 2/4406 - - - - - - -
?/? c.823A>G r.(?) p.(Ile275Val) g.103177315A>G Copied from the Exome Variant Server RCOR1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.843G>C r.(?) p.(Lys281Asn) g.103177335G>C Copied from the Exome Variant Server RCOR1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.858+4del r.spl? p.? g.103177354del Copied from the Exome Variant Server RCOR1_000035 2/12518 0/8254 2/4264 - - - - - - -
?/? c.858+9_858+10insC r.(=) p.(=) g.103177359_103177360insC Copied from the Exome Variant Server RCOR1_000036 2/12518 2/8254 0/4264 - - - - - - -
?/? c.859-30T>C r.(=) p.(=) g.103180730T>C Copied from the Exome Variant Server RCOR1_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1029G>A r.(?) p.(Met343Ile) g.103180930G>A Copied from the Exome Variant Server RCOR1_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1053+19T>G r.(=) p.(=) g.103180973T>G Copied from the Exome Variant Server RCOR1_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1082C>A r.(?) p.(Ala361Asp) g.103187372C>A Copied from the Exome Variant Server RCOR1_000040 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1121G>A r.(?) p.(Arg374Gln) g.103187411G>A Copied from the Exome Variant Server RCOR1_000041 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1131+27A>G r.(=) p.(=) g.103187448A>G Copied from the Exome Variant Server RCOR1_000042 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1131+44_1131+45insA r.(=) p.(=) g.103187465_103187466insA Copied from the Exome Variant Server RCOR1_000043 1/12516 0/8252 1/4264 - - - - - - -
?/? c.1131+45A>G r.(=) p.(=) g.103187466A>G Copied from the Exome Variant Server RCOR1_000044 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1132-67G>A r.(=) p.(=) g.103187590G>A Copied from the Exome Variant Server RCOR1_000045 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1132-50A>G r.(=) p.(=) g.103187607A>G Copied from the Exome Variant Server RCOR1_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132-44A>G r.(=) p.(=) g.103187613A>G Copied from the Exome Variant Server RCOR1_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1132-31A>G r.(=) p.(=) g.103187626A>G Copied from the Exome Variant Server RCOR1_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132-27G>A r.(=) p.(=) g.103187630G>A Copied from the Exome Variant Server RCOR1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1189+27T>G r.(=) p.(=) g.103187741T>G Copied from the Exome Variant Server RCOR1_000050 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1189+35C>T r.(=) p.(=) g.103187749C>T Copied from the Exome Variant Server RCOR1_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189+36G>C r.(=) p.(=) g.103187750G>C Copied from the Exome Variant Server RCOR1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1189+53C>T r.(=) p.(=) g.103187767C>T Copied from the Exome Variant Server RCOR1_000053 49/4566 0/3182 49/1384 - - - - - - -
?/? c.1189+67A>G r.(=) p.(=) g.103187781A>G Copied from the Exome Variant Server RCOR1_000054 4/4566 4/3182 0/1384 - - - - - - -
?/? c.1190-9C>T r.(=) p.(=) g.103188515C>T Copied from the Exome Variant Server RCOR1_000055 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1215T>C r.(=) p.(=) g.103188549T>C Copied from the Exome Variant Server RCOR1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1323G>A r.(=) p.(=) g.103188657G>A Copied from the Exome Variant Server RCOR1_000057 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1349A>G r.(?) p.(Asn450Ser) g.103188683A>G Copied from the Exome Variant Server RCOR1_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1404C>T r.(=) p.(=) g.103188738C>T Copied from the Exome Variant Server RCOR1_000059 919/13006 840/8600 79/4406 - - - - - - -
?/? c.1420-49_1420-38del r.(=) p.(=) g.103192756_103192767del Copied from the Exome Variant Server RCOR1_000060 522/12518 353/8254 169/4264 - - - - - - -
?/? c.*46G>A r.(=) p.(=) g.103192889G>A Copied from the Exome Variant Server RCOR1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*66A>G r.(=) p.(=) g.103192909A>G Copied from the Exome Variant Server RCOR1_000062 1/4566 1/3182 0/1384 - - - - - - -
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