Unique variants in gene NFIC

Information The variants shown are described using the NM_005597.3 transcript reference sequence.

124 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-31del r.(=) p.(=) g.3366604del Copied from the Exome Variant Server NFIC_000001 7/11100 6/7456 1/3644
1 c.-25C>T r.(=) p.(=) g.3366610C>T Copied from the Exome Variant Server NFIC_000002 6/11176 6/7504 0/3672
1 c.-19G>T r.(=) p.(=) g.3366616G>T Copied from the Exome Variant Server NFIC_000003 1/10732 0/7242 1/3490
1 c.-9G>A r.(=) p.(=) g.3366626G>A Copied from the Exome Variant Server NFIC_000004 1/11230 1/7562 0/3668
1 c.31-50C>G r.(=) p.(=) g.3381660C>G Copied from the Exome Variant Server NFIC_000005 2/12984 2/8590 0/4394
1 c.81C>T r.(=) p.(=) g.3381760C>T Copied from the Exome Variant Server NFIC_000006 1/13006 0/8600 1/4406
1 c.108G>C r.(=) p.(=) g.3381787G>C Copied from the Exome Variant Server NFIC_000007 1/13006 1/8600 0/4406
1 c.110G>A r.(?) p.(Arg37Gln) g.3381789G>A Copied from the Exome Variant Server NFIC_000008 4/13006 0/8600 4/4406
1 c.120G>A r.(=) p.(=) g.3381799G>A Copied from the Exome Variant Server NFIC_000009 1/13006 1/8600 0/4406
1 c.126C>A r.(?) p.(Phe42Leu) g.3381805C>A Copied from the Exome Variant Server NFIC_000010 20/13006 0/8600 20/4406
1 c.145A>C r.(?) p.(Met49Leu) g.3381824A>C Copied from the Exome Variant Server NFIC_000011 1/13006 0/8600 1/4406
1 c.228G>T r.(=) p.(=) g.3381907G>T Copied from the Exome Variant Server NFIC_000012 16/13006 16/8600 0/4406
1 c.292G>A r.(?) p.(Gly98Ser) g.3381971G>A Copied from the Exome Variant Server NFIC_000013 8/13004 5/8598 3/4406
1 c.303G>A r.(=) p.(=) g.3381982G>A Copied from the Exome Variant Server NFIC_000014 1/13006 1/8600 0/4406
1 c.306G>A r.(=) p.(=) g.3381985G>A Copied from the Exome Variant Server NFIC_000015 1/13006 1/8600 0/4406
1 c.441C>T r.(=) p.(=) g.3382120C>T Copied from the Exome Variant Server NFIC_000016 1/13002 1/8596 0/4406
1 c.468G>A r.(=) p.(=) g.3382147G>A Copied from the Exome Variant Server NFIC_000017 1/12996 0/8592 1/4404
1 c.492G>T r.(=) p.(=) g.3382171G>T Copied from the Exome Variant Server NFIC_000018 15/12990 0/8588 15/4402
1 c.497C>T r.(?) p.(Pro166Leu) g.3382176C>T Copied from the Exome Variant Server NFIC_000019 10/12984 9/8584 1/4400
1 c.549C>T r.(=) p.(=) g.3382228C>T Copied from the Exome Variant Server NFIC_000020 1/12862 1/8498 0/4364
1 c.550G>C r.(?) p.(Val184Leu) g.3382229G>C Copied from the Exome Variant Server NFIC_000021 3/12852 3/8490 0/4362
1 c.553C>T r.(?) p.(Arg185Cys) g.3382232C>T Copied from the Exome Variant Server NFIC_000022 2/12848 0/8488 2/4360
1 c.560G>A r.(?) p.(Arg187Gln) g.3382239G>A Copied from the Exome Variant Server NFIC_000023 1/12790 1/8442 0/4348
1 c.562+12T>G r.(=) p.(=) g.3382253T>G Copied from the Exome Variant Server NFIC_000024 2/12734 0/8398 2/4336
1 c.562+26C>T r.(=) p.(=) g.3382267C>T Copied from the Exome Variant Server NFIC_000025 2/12650 2/8336 0/4314
1 c.562+33C>T r.(=) p.(=) g.3382274C>T Copied from the Exome Variant Server NFIC_000026 3238/12590 1880/8296 1358/4294
1 c.563-49G>C r.(=) p.(=) g.3425055G>C Copied from the Exome Variant Server NFIC_000027 1/13004 1/8600 0/4404
1 c.563-33G>A r.(=) p.(=) g.3425071G>A Copied from the Exome Variant Server NFIC_000028 1/13004 1/8600 0/4404
1 c.563-23G>A r.(=) p.(=) g.3425081G>A Copied from the Exome Variant Server NFIC_000029 789/13004 8/8600 781/4404
1 c.566C>A r.(?) p.(Ala189Glu) g.3425107C>A Copied from the Exome Variant Server NFIC_000030 10/13004 7/8600 3/4404
1 c.570G>A r.(=) p.(=) g.3425111G>A Copied from the Exome Variant Server NFIC_000031 1/13004 1/8600 0/4404
1 c.630G>T r.(=) p.(=) g.3425171G>T Copied from the Exome Variant Server NFIC_000032 1/13004 0/8600 1/4404
1 c.634+23G>A r.(=) p.(=) g.3425198G>A Copied from the Exome Variant Server NFIC_000033 2/13002 0/8600 2/4402
1 c.635-44C>T r.(=) p.(=) g.3433472C>T Copied from the Exome Variant Server NFIC_000034 310/13006 1/8600 309/4406
1 c.635-33C>T r.(=) p.(=) g.3433483C>T Copied from the Exome Variant Server NFIC_000035 1/13006 0/8600 1/4406
1 c.635-27A>C r.(=) p.(=) g.3433489A>C Copied from the Exome Variant Server NFIC_000036 1/13006 1/8600 0/4406
1 c.639G>A r.(=) p.(=) g.3433520G>A Copied from the Exome Variant Server NFIC_000037 1/13006 1/8600 0/4406
1 c.669C>T r.(=) p.(=) g.3433550C>T Copied from the Exome Variant Server NFIC_000038 1/13006 0/8600 1/4406
1 c.670G>A r.(?) p.(Gly224Ser) g.3433551G>A Copied from the Exome Variant Server NFIC_000039 2/13006 1/8600 1/4406
1 c.681C>T r.(=) p.(=) g.3433562C>T Copied from the Exome Variant Server NFIC_000040 3/13006 3/8600 0/4406
1 c.709+18C>T r.(=) p.(=) g.3433608C>T Copied from the Exome Variant Server NFIC_000041 1/13006 0/8600 1/4406
1 c.709+26T>C r.(=) p.(=) g.3433616T>C Copied from the Exome Variant Server NFIC_000042 1/13006 0/8600 1/4406
1 c.710-51G>A r.(=) p.(=) g.3434224G>A Copied from the Exome Variant Server NFIC_000043 1244/13006 701/8600 543/4406
1 c.710-18C>T r.(=) p.(=) g.3434257C>T Copied from the Exome Variant Server NFIC_000044 1/13006 1/8600 0/4406
1 c.714C>T r.(=) p.(=) g.3434279C>T Copied from the Exome Variant Server NFIC_000045 1/13006 0/8600 1/4406
1 c.738C>T r.(=) p.(=) g.3434303C>T Copied from the Exome Variant Server NFIC_000046 1/13006 0/8600 1/4406
1 c.794C>G r.(?) p.(Thr265Ser) g.3434359C>G Copied from the Exome Variant Server NFIC_000047 11/13006 10/8600 1/4406
1 c.815C>G r.(?) p.(Pro272Arg) g.3434380C>G Copied from the Exome Variant Server NFIC_000048 1/13006 0/8600 1/4406
1 c.833+15C>G r.(=) p.(=) g.3434413C>G Copied from the Exome Variant Server NFIC_000049 3179/13006 2426/8600 753/4406
1 c.833+28C>T r.(=) p.(=) g.3434426C>T Copied from the Exome Variant Server NFIC_000050 3/13006 3/8600 0/4406
1 c.833+30T>G r.(=) p.(=) g.3434428T>G Copied from the Exome Variant Server NFIC_000051 3/13006 0/8600 3/4406
1 c.834-26G>A r.(=) p.(=) g.3435055G>A Copied from the Exome Variant Server NFIC_000052 1/12986 0/8590 1/4396
1 c.849A>G r.(=) p.(=) g.3435096A>G Copied from the Exome Variant Server NFIC_000053 1/13002 1/8598 0/4404
1 c.852G>A r.(=) p.(=) g.3435099G>A Copied from the Exome Variant Server NFIC_000054 1/13002 1/8598 0/4404
1 c.853G>C r.(?) p.(Gly285Arg) g.3435100G>C Copied from the Exome Variant Server NFIC_000055 1/13002 1/8598 0/4404
1 c.858G>T r.(=) p.(=) g.3435105G>T Copied from the Exome Variant Server NFIC_000056 1/13002 1/8598 0/4404
1 c.890G>A r.(?) p.(Gly297Asp) g.3435137G>A Copied from the Exome Variant Server NFIC_000057 1/13002 0/8598 1/4404
1 c.942G>T r.(=) p.(=) g.3435189G>T Copied from the Exome Variant Server NFIC_000058 2/12992 2/8594 0/4398
1 c.948C>T r.(=) p.(=) g.3435195C>T Copied from the Exome Variant Server NFIC_000059 1/12992 0/8598 1/4394
1 c.958+30C>T r.(=) p.(=) g.3435235C>T Copied from the Exome Variant Server NFIC_000060 1/12940 0/8566 1/4374
1 c.958+47C>T r.(=) p.(=) g.3435252C>T Copied from the Exome Variant Server NFIC_000061 6/12828 6/8506 0/4322
1 c.958+49T>C r.(=) p.(=) g.3435254T>C Copied from the Exome Variant Server NFIC_000062 5251/12774 2842/8474 2409/4300
1 c.1029T>A r.(=) p.(=) g.3449082T>A Copied from the Exome Variant Server NFIC_000063 10/13006 10/8600 0/4406
1 c.1034G>A r.(?) p.(Arg345His) g.3449087G>A Copied from the Exome Variant Server NFIC_000064 1/13006 1/8600 0/4406
1 c.1071C>T r.(=) p.(=) g.3449124C>T Copied from the Exome Variant Server NFIC_000065 6/13006 5/8600 1/4406
1 c.1084+6C>T r.(=) p.(=) g.3449143C>T Copied from the Exome Variant Server NFIC_000066 1/13000 1/8596 0/4404
1 c.1084+11C>T r.(=) p.(=) g.3449148C>T Copied from the Exome Variant Server NFIC_000067 115/12998 0/8596 115/4402
1 c.1084+15C>T r.(=) p.(=) g.3449152C>T Copied from the Exome Variant Server NFIC_000068 1/12992 1/8594 0/4398
1 c.1084+22C>T r.(=) p.(=) g.3449159C>T Copied from the Exome Variant Server NFIC_000069 2/12982 1/8588 1/4394
1 c.1084+45T>G r.(=) p.(=) g.3449182T>G Copied from the Exome Variant Server NFIC_000070 2270/12940 274/8560 1996/4380
1 c.1084+48C>G r.(=) p.(=) g.3449185C>G Copied from the Exome Variant Server NFIC_000071 1109/12938 14/8556 1095/4382
1 c.1085-44G>A r.(=) p.(=) g.3452436G>A Copied from the Exome Variant Server NFIC_000072 42/13006 0/8600 42/4406
1 c.1085-25del r.(=) p.(=) g.3452455del Copied from the Exome Variant Server NFIC_000073 16/12518 12/8254 4/4264
1 c.1085-21C>T r.(=) p.(=) g.3452459C>T Copied from the Exome Variant Server NFIC_000074 7/13006 0/8600 7/4406
1 c.1085-5C>T r.spl? p.? g.3452475C>T Copied from the Exome Variant Server NFIC_000075 1/13006 1/8600 0/4406
1 c.1113C>T r.(=) p.(=) g.3452508C>T Copied from the Exome Variant Server NFIC_000076 1/13006 0/8600 1/4406
1 c.1151C>T r.(?) p.(Thr384Met) g.3452546C>T Copied from the Exome Variant Server NFIC_000077 1/13006 1/8600 0/4406
1 c.1152G>A r.(=) p.(=) g.3452547G>A Copied from the Exome Variant Server NFIC_000078 1/13006 1/8600 0/4406
1 c.1155C>G r.(=) p.(=) g.3452550C>G Copied from the Exome Variant Server NFIC_000079 3/13006 3/8600 0/4406
1 c.1164C>T r.(=) p.(=) g.3452559C>T Copied from the Exome Variant Server NFIC_000080 2/13006 2/8600 0/4406
1 c.1167C>G r.(?) p.(Phe389Leu) g.3452562C>G Copied from the Exome Variant Server NFIC_000081 1/13006 1/8600 0/4406
1 c.1176G>A r.(=) p.(=) g.3452571G>A Copied from the Exome Variant Server NFIC_000082 2/13006 2/8600 0/4406
1 c.1184G>A r.(?) p.(Arg395His) g.3452579G>A Copied from the Exome Variant Server NFIC_000083 1/13006 1/8600 0/4406
1 c.1212C>G r.(?) p.(Asp404Glu) g.3452607C>G Copied from the Exome Variant Server NFIC_000084 1/13006 0/8600 1/4406
1 c.1215G>A r.(=) p.(=) g.3452610G>A Copied from the Exome Variant Server NFIC_000085 1/13006 0/8600 1/4406
1 c.1242C>T r.(=) p.(=) g.3452637C>T Copied from the Exome Variant Server NFIC_000086 1007/13006 14/8600 993/4406
1 c.1249G>T r.(?) p.(Ala417Ser) g.3452644G>T Copied from the Exome Variant Server NFIC_000087 642/13006 9/8600 633/4406
1 c.1269G>A r.(=) p.(=) g.3452664G>A Copied from the Exome Variant Server NFIC_000088 1/13006 1/8600 0/4406
1 c.1269+11C>T r.(=) p.(=) g.3452675C>T Copied from the Exome Variant Server NFIC_000089 1/13004 0/8598 1/4406
1 c.1269+19A>G r.(=) p.(=) g.3452683A>G Copied from the Exome Variant Server NFIC_000090 8865/13004 5760/8598 3105/4406
1 c.1269+23G>A r.(=) p.(=) g.3452687G>A Copied from the Exome Variant Server NFIC_000091 4/13004 1/8598 3/4406
1 c.1269+36C>A r.(=) p.(=) g.3452700C>A Copied from the Exome Variant Server NFIC_000092 1/13004 0/8598 1/4406
1 c.1269+37G>C r.(=) p.(=) g.3452701G>C Copied from the Exome Variant Server NFIC_000093 1/13004 0/8598 1/4406
1 c.1269+1063C>T r.(=) p.(=) g.3453727C>T Copied from the Exome Variant Server NFIC_000094 1/12168 1/8248 0/3920
1 c.1269+1077G>A r.(=) p.(=) g.3453741G>A Copied from the Exome Variant Server NFIC_000095 3/12234 3/8286 0/3948
1 c.1269+1096G>C r.(=) p.(=) g.3453760G>C Copied from the Exome Variant Server NFIC_000096 1/12286 1/8308 0/3978
1 c.1269+1141T>G r.(=) p.(=) g.3453805T>G Copied from the Exome Variant Server NFIC_000097 1/12324 1/8308 0/4016
1 c.1269+1161C>T r.(=) p.(=) g.3453825C>T Copied from the Exome Variant Server NFIC_000098 3/12238 3/8270 0/3968
1 c.1269+1193C>T r.(=) p.(=) g.3453857C>T Copied from the Exome Variant Server NFIC_000099 8/11960 8/8118 0/3842
1 c.1269+1202_1269+1204del r.(=) p.(=) g.3453866_3453868del Copied from the Exome Variant Server NFIC_000100 73/11036 45/7546 28/3490
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