All transcript variants in gene NICN1

Information The variants shown are described using the NM_032316.3 transcript reference sequence.

54 entries on 1 page. Showing entries 1 - 54.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.40G>A r.(?) p.(Val14Ile) g.49466633C>T Copied from the Exome Variant Server NICN1_000039 1/13002 0/8596 1/4406
?/? c.65G>T r.(?) p.(Arg22Leu) g.49466608C>A Copied from the Exome Variant Server NICN1_000037 1/12998 0/8596 1/4402
?/? c.108C>T r.(=) p.(=) g.49466565G>A Copied from the Exome Variant Server NICN1_000035 1/13006 1/8600 0/4406
?/? c.132+41G>T r.(=) p.(=) g.49466500C>A Copied from the Exome Variant Server NICN1_000033 3/12834 0/8488 3/4346
?/? c.132+51G>T r.(=) p.(=) g.49466490C>A Copied from the Exome Variant Server NICN1_000044 6/12820 5/8480 1/4340
?/? c.133-19T>C r.(=) p.(=) g.49463880A>G Copied from the Exome Variant Server NICN1_000043 1/13006 1/8600 0/4406
?/? c.208A>G r.(?) p.(Thr70Ala) g.49463786T>C Copied from the Exome Variant Server NICN1_000042 1/13006 1/8600 0/4406
?/? c.234G>A r.(=) p.(=) g.49463760C>T Copied from the Exome Variant Server NICN1_000041 1/13006 0/8600 1/4406
?/? c.247C>T r.(=) p.(=) g.49463747G>A Copied from the Exome Variant Server NICN1_000040 1/13006 1/8600 0/4406
?/? c.261A>G r.(=) p.(=) g.49463733T>C Copied from the Exome Variant Server NICN1_000038 6/13006 0/8600 6/4406
?/? c.270G>A r.(=) p.(=) g.49463724C>T Copied from the Exome Variant Server NICN1_000036 1/13006 1/8600 0/4406
?/? c.294G>A r.(=) p.(=) g.49463700C>T Copied from the Exome Variant Server NICN1_000034 322/13006 299/8600 23/4406
?/? c.309+11C>A r.(=) p.(=) g.49463674G>T Copied from the Exome Variant Server NICN1_000032 1/13006 0/8600 1/4406
?/? c.309+45T>C r.(=) p.(=) g.49463640A>G Copied from the Exome Variant Server NICN1_000031 5/13006 0/8600 5/4406
?/? c.310-19C>T r.(=) p.(=) g.49463448G>A Copied from the Exome Variant Server NICN1_000030 77/13006 3/8600 74/4406
?/? c.314T>C r.(?) p.(Leu105Pro) g.49463425A>G Copied from the Exome Variant Server NICN1_000029 1/13006 0/8600 1/4406
?/? c.342A>G r.(=) p.(=) g.49463397T>C Copied from the Exome Variant Server NICN1_000028 1/13006 1/8600 0/4406
?/? c.343C>T r.(?) p.(Arg115Cys) g.49463396G>A Copied from the Exome Variant Server NICN1_000027 2/13006 2/8600 0/4406
?/? c.358_359insC r.(?) p.(Gln120Profs*39) g.49463380_49463381insG Copied from the Exome Variant Server NICN1_000026 59/12520 46/8254 13/4266
?/? c.423+29C>T r.(=) p.(=) g.49463287G>A Copied from the Exome Variant Server NICN1_000025 3990/13006 2698/8600 1292/4406
?/? c.423+50A>G r.(=) p.(=) g.49463266T>C Copied from the Exome Variant Server NICN1_000024 1/13004 0/8600 1/4404
?/? c.424-16C>T r.(=) p.(=) g.49462887G>A Copied from the Exome Variant Server NICN1_000023 1/13006 1/8600 0/4406
?/? c.432C>T r.(=) p.(=) g.49462863G>A Copied from the Exome Variant Server NICN1_000022 2/13006 1/8600 1/4406
?/? c.439T>C r.(?) p.(Phe147Leu) g.49462856A>G Copied from the Exome Variant Server NICN1_000021 1/13006 1/8600 0/4406
?/? c.481G>A r.(?) p.(Ala161Thr) g.49462814C>T Copied from the Exome Variant Server NICN1_000020 1/13006 0/8600 1/4406
?/? c.483A>T r.(=) p.(=) g.49462812T>A Copied from the Exome Variant Server NICN1_000019 1/13006 0/8600 1/4406
?/? c.510C>T r.(=) p.(=) g.49462472G>A Copied from the Exome Variant Server NICN1_000018 1/13006 0/8600 1/4406
?/? c.524C>A r.(?) p.(Ser175Tyr) g.49462458G>T Copied from the Exome Variant Server NICN1_000017 2/13006 2/8600 0/4406
?/? c.525C>T r.(=) p.(=) g.49462457G>A Copied from the Exome Variant Server NICN1_000016 1/13006 1/8600 0/4406
?/? c.553G>C r.(?) p.(Glu185Gln) g.49462429C>G Copied from the Exome Variant Server NICN1_000015 1/13006 1/8600 0/4406
?/? c.562C>T r.(?) p.(Arg188Trp) g.49462420G>A Copied from the Exome Variant Server NICN1_000014 1/13006 1/8600 0/4406
?/? c.572A>G r.(?) p.(His191Arg) g.49462410T>C Copied from the Exome Variant Server NICN1_000013 150/13006 142/8600 8/4406
?/? c.588C>T r.(=) p.(=) g.49462394G>A Copied from the Exome Variant Server NICN1_000012 1/13006 1/8600 0/4406
?/? c.593G>A r.(?) p.(Arg198His) g.49462389C>T Copied from the Exome Variant Server NICN1_000011 1/13006 1/8600 0/4406
?/? c.600T>C r.(=) p.(=) g.49462382A>G Copied from the Exome Variant Server NICN1_000010 1/13006 1/8600 0/4406
?/? c.600+5G>A r.spl? p.? g.49462377C>T Copied from the Exome Variant Server NICN1_000009 1/13006 0/8600 1/4406
?/? c.600+10C>T r.(=) p.(=) g.49462372G>A Copied from the Exome Variant Server NICN1_000008 2/13006 0/8600 2/4406
?/? c.600+23T>C r.(=) p.(=) g.49462359A>G Copied from the Exome Variant Server NICN1_000007 1/13006 1/8600 0/4406
?/? c.633C>G r.(=) p.(=) g.49462275G>C Copied from the Exome Variant Server NICN1_000006 1/13006 1/8600 0/4406
?/? c.*1A>G r.(=) p.(=) g.49462265T>C Copied from the Exome Variant Server NICN1_000005 1/13006 1/8600 0/4406
?/? c.*22G>T r.(=) p.(=) g.49462244C>A Copied from the Exome Variant Server NICN1_000004 1/13006 1/8600 0/4406
?/? c.*23T>G r.(=) p.(=) g.49462243A>C Copied from the Exome Variant Server NICN1_000003 10/13006 10/8600 0/4406
?/? c.*36G>A r.(=) p.(=) g.49462230C>T Copied from the Exome Variant Server NICN1_000002 2/13006 0/8600 2/4406
?/? c.*52T>C r.(=) p.(=) g.49462214A>G Copied from the Exome Variant Server NICN1_000001 2/10300 0/7164 2/3136
?/? c.*2355G>A r.(=) p.(=) g.49459911C>T Copied from the Exome Variant Server AMT_000090 1/12988 1/8594 0/4394
?/? c.*2356C>T r.(=) p.(=) g.49459910G>A Copied from the Exome Variant Server AMT_000089 1/12990 0/8594 1/4396
?/? c.*2382G>A r.(=) p.(=) g.49459884C>T Copied from the Exome Variant Server AMT_000087 43/13004 0/8598 43/4406
?/? c.*2396_*2397insT r.(=) p.(=) g.49459869_49459870insA Copied from the Exome Variant Server AMT_000085 1/12520 0/8254 1/4266
?/? c.*2411G>A r.(=) p.(=) g.49459855C>T Copied from the Exome Variant Server AMT_000083 1/13006 0/8600 1/4406
?/? c.*2417G>A r.(=) p.(=) g.49459849C>T Copied from the Exome Variant Server AMT_000081 1/13006 0/8600 1/4406
?/? c.*2422C>T r.(?) p.(Arg14Cys) g.49459844G>A Copied from the Exome Variant Server AMT_000078 1/13006 1/8600 0/4406
?/? c.*2442G>A r.(=) p.(=) g.49459824C>T Copied from the Exome Variant Server AMT_000076 1/13006 1/8600 0/4406
?/? c.*2452C>T r.(?) p.(Arg24Cys) g.49459814G>A Copied from the Exome Variant Server AMT_000074 1/13006 1/8600 0/4406
?/? c.*2453G>A r.(?) p.(Arg24His) g.49459813C>T Copied from the Exome Variant Server AMT_000072 2/13006 1/8600 1/4406
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