All transcript variants in gene CFP

Information The variants shown are described using the NM_002621.2 transcript reference sequence.

59 entries on 1 page. Showing entries 1 - 59.
Legend  

Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.17C>T r.(?) p.(Ala6Val) g.47489227G>A Copied from the Exome Variant Server CFP_000059 1/10094 1/6382 0/3712
?/? c.42G>A r.(=) p.(=) g.47489202C>T Copied from the Exome Variant Server CFP_000058 1/10066 0/6370 1/3696
?/? c.77-9C>G r.(=) p.(=) g.47489082G>C Copied from the Exome Variant Server CFP_000057 1/10177 1/6477 0/3700
?/? c.88G>A r.(?) p.(Val30Met) g.47489062C>T Copied from the Exome Variant Server CFP_000056 3/10356 2/6597 1/3759
?/? c.104A>G r.(?) p.(Gln35Arg) g.47489046T>C Copied from the Exome Variant Server CFP_000055 1/10409 1/6635 0/3774
?/? c.121G>A r.(?) p.(Gly41Ser) g.47489029C>T Copied from the Exome Variant Server CFP_000054 4/10452 4/6661 0/3791
?/? c.157G>A r.(?) p.(Val53Met) g.47488993C>T Copied from the Exome Variant Server CFP_000053 39/10445 2/6661 37/3784
?/? c.200G>A r.(?) p.(Arg67His) g.47488950C>T Copied from the Exome Variant Server CFP_000052 1/10394 1/6615 0/3779
?/? c.227+33del r.(=) p.(=) g.47488890del Copied from the Exome Variant Server CFP_000051 40/5912 22/3811 18/2101
?/? c.228-50C>T r.(=) p.(=) g.47487726G>A Copied from the Exome Variant Server CFP_000050 16/10534 0/6709 16/3825
?/? c.228-33G>A r.(=) p.(=) g.47487709C>T Copied from the Exome Variant Server CFP_000049 55/10550 53/6721 2/3829
?/? c.270G>A r.(=) p.(=) g.47487634C>T Copied from the Exome Variant Server CFP_000048 2/10562 0/6727 2/3835
?/? c.294G>C r.(?) p.(Gln98His) g.47487610C>G Copied from the Exome Variant Server CFP_000047 1/10563 0/6728 1/3835
?/? c.391C>G r.(?) p.(Gln131Glu) g.47487513G>C Copied from the Exome Variant Server CFP_000046 1/10563 0/6728 1/3835
?/? c.403+9G>A r.(=) p.(=) g.47487492C>T Copied from the Exome Variant Server CFP_000045 38/10563 0/6728 38/3835
?/? c.403+21G>A r.(=) p.(=) g.47487480C>T Copied from the Exome Variant Server CFP_000044 1/10562 1/6727 0/3835
?/? c.403+40C>T r.(=) p.(=) g.47487461G>A Copied from the Exome Variant Server CFP_000043 1/10559 1/6726 0/3833
?/? c.404-45A>T r.(=) p.(=) g.47487085T>A Copied from the Exome Variant Server CFP_000042 3/10513 2/6696 1/3817
?/? c.404-6C>G r.(=) p.(=) g.47487046G>C Copied from the Exome Variant Server CFP_000041 1/10543 0/6716 1/3827
?/? c.470G>A r.(?) p.(Arg157Gln) g.47486974C>T Copied from the Exome Variant Server CFP_000040 1/10563 0/6728 1/3835
?/? c.482G>A r.(?) p.(Arg161Gln) g.47486962C>T Copied from the Exome Variant Server CFP_000039 1/10562 0/6727 1/3835
?/? c.530A>G r.(?) p.(Gln177Arg) g.47486914T>C Copied from the Exome Variant Server CFP_000038 1/10562 0/6727 1/3835
?/? c.574+41G>T r.(=) p.(=) g.47486829C>A Copied from the Exome Variant Server CFP_000037 1/10563 1/6728 0/3835
?/? c.574+43G>A r.(=) p.(=) g.47486827C>T Copied from the Exome Variant Server CFP_000036 4/10563 2/6728 2/3835
?/? c.575-41A>G r.(=) p.(=) g.47486772T>C Copied from the Exome Variant Server CFP_000035 7/10559 0/6725 7/3834
?/? c.611C>T r.(?) p.(Pro204Leu) g.47486695G>A Copied from the Exome Variant Server CFP_000034 88/10557 0/6725 88/3832
?/? c.630C>T r.(=) p.(=) g.47486676G>A Copied from the Exome Variant Server CFP_000033 1/10562 0/6728 1/3834
?/? c.658C>A r.(=) p.(=) g.47486648G>T Copied from the Exome Variant Server CFP_000032 1/10563 1/6728 0/3835
?/? c.663C>T r.(=) p.(=) g.47486643G>A Copied from the Exome Variant Server CFP_000031 2/10562 2/6727 0/3835
?/? c.665G>A r.(?) p.(Arg222His) g.47486641C>T Copied from the Exome Variant Server CFP_000030 1/10563 1/6728 0/3835
?/? c.729C>T r.(=) p.(=) g.47486577G>A Copied from the Exome Variant Server CFP_000029 1/10562 1/6727 0/3835
?/? c.738G>A r.(=) p.(=) g.47486568C>T Copied from the Exome Variant Server CFP_000028 1/10561 1/6726 0/3835
?/? c.748G>A r.(?) p.(Gly250Ser) g.47486558C>T Copied from the Exome Variant Server CFP_000027 42/10562 1/6727 41/3835
?/? c.835A>G r.(?) p.(Met279Val) g.47486277T>C Copied from the Exome Variant Server CFP_000026 1/10560 0/6725 1/3835
?/? c.895G>A r.(?) p.(Asp299Asn) g.47486217C>T Copied from the Exome Variant Server CFP_000025 15/10561 13/6726 2/3835
?/? c.940+7A>G r.(=) p.(=) g.47486165T>C Copied from the Exome Variant Server CFP_000024 3/10562 0/6727 3/3835
?/? c.940+51C>G r.(=) p.(=) g.47486121G>C Copied from the Exome Variant Server CFP_000023 1/10561 0/6726 1/3835
?/? c.960G>A r.(=) p.(=) g.47485899C>T Copied from the Exome Variant Server CFP_000022 1/10563 1/6728 0/3835
?/? c.977C>T r.(?) p.(Pro326Leu) g.47485882G>A Copied from the Exome Variant Server CFP_000021 2/10563 0/6728 2/3835
?/? c.1011T>C r.(=) p.(=) g.47485848A>G Copied from the Exome Variant Server CFP_000020 1/10563 0/6728 1/3835
?/? c.1023G>A r.(=) p.(=) g.47485836C>T Copied from the Exome Variant Server CFP_000019 1/10563 1/6728 0/3835
?/? c.1058G>A r.(?) p.(Arg353His) g.47485801C>T Copied from the Exome Variant Server CFP_000018 1/10563 1/6728 0/3835
?/? c.1132+30G>A r.(=) p.(=) g.47485697C>T Copied from the Exome Variant Server CFP_000017 59/10562 0/6727 59/3835
?/? c.1132+47G>A r.(=) p.(=) g.47485680C>T Copied from the Exome Variant Server CFP_000016 2/10562 0/6727 2/3835
?/? c.1133-45C>T r.(=) p.(=) g.47485613G>A Copied from the Exome Variant Server CFP_000015 7/10485 7/6680 0/3805
?/? c.1182C>A r.(=) p.(=) g.47485519G>T Copied from the Exome Variant Server CFP_000014 1/10527 0/6705 1/3822
?/? c.1198A>G r.(?) p.(Thr400Ala) g.47485503T>C Copied from the Exome Variant Server CFP_000013 1/10516 1/6694 0/3822
?/? c.1223C>T r.(?) p.(Thr408Ile) g.47485478G>A Copied from the Exome Variant Server CFP_000012 1/10499 0/6684 1/3815
?/? c.1245-50G>A r.(=) p.(=) g.47483889C>T Copied from the Exome Variant Server CFP_000011 5/10563 0/6728 5/3835
?/? c.1245-11del r.(=) p.(=) g.47483850del Copied from the Exome Variant Server CFP_000010 1/10205 1/6484 0/3721
?/? c.1259T>C r.(?) p.(Met420Thr) g.47483825A>G Copied from the Exome Variant Server CFP_000009 1/10563 1/6728 0/3835
?/? c.1269T>A r.(=) p.(=) g.47483815A>T Copied from the Exome Variant Server CFP_000008 1/10563 0/6728 1/3835
?/? c.1284C>T r.(=) p.(=) g.47483800G>A Copied from the Exome Variant Server CFP_000007 2516/10563 1624/6728 892/3835
?/? c.1332G>T r.(=) p.(=) g.47483752C>A Copied from the Exome Variant Server CFP_000006 8/10563 0/6728 8/3835
?/? c.1374G>A r.(=) p.(=) g.47483710C>T Copied from the Exome Variant Server CFP_000005 2/10563 0/6728 2/3835
?/? c.*2A>T r.(=) p.(=) g.47483672T>A Copied from the Exome Variant Server CFP_000004 45/10563 0/6728 45/3835
?/? c.*7T>C r.(=) p.(=) g.47483667A>G Copied from the Exome Variant Server CFP_000003 1/10563 0/6728 1/3835
?/? c.*13C>T r.(=) p.(=) g.47483661G>A Copied from the Exome Variant Server CFP_000002 1/10563 1/6728 0/3835
?/? c.*24C>T r.(=) p.(=) g.47483650G>A Copied from the Exome Variant Server CFP_000001 2/10563 1/6728 1/3835
Legend