Unique variants in gene FSIP1

Information The variants shown are described using the NM_152597.4 transcript reference sequence.

141 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.-8+2382T>C r.(=) p.(=) g.40072447A>G Copied from the Exome Variant Server FSIP1_000141 185/4566 3/3182 182/1384
1 c.-8+2433C>T r.(=) p.(=) g.40072396G>A Copied from the Exome Variant Server FSIP1_000140 13/4566 11/3182 2/1384
1 c.-8+2452G>T r.(=) p.(=) g.40072377C>A Copied from the Exome Variant Server FSIP1_000139 32/4566 0/3182 32/1384
1 c.-8+2473A>G r.(=) p.(=) g.40072356T>C Copied from the Exome Variant Server FSIP1_000138 1/4566 0/3182 1/1384
1 c.-8+2493A>G r.(=) p.(=) g.40072336T>C Copied from the Exome Variant Server FSIP1_000137 27/4566 24/3182 3/1384
1 c.-8+2518A>G r.(=) p.(=) g.40072311T>C Copied from the Exome Variant Server FSIP1_000136 2635/4566 1654/3182 981/1384
1 c.-8+2603_-8+2604insT r.(=) p.(=) g.40072225_40072226insA Copied from the Exome Variant Server FSIP1_000135 1/5584 0/3784 1/1800
1 c.-8+2631A>G r.(=) p.(=) g.40072198T>C Copied from the Exome Variant Server FSIP1_000134 115/4560 0/3176 115/1384
1 c.-7-923G>A r.(=) p.(=) g.40069655C>T Copied from the Exome Variant Server FSIP1_000133 1/4566 0/3182 1/1384
1 c.-7-917C>T r.(=) p.(=) g.40069649G>A Copied from the Exome Variant Server FSIP1_000132 1/4566 1/3182 0/1384
1 c.-7-243T>C r.(=) p.(=) g.40068975A>G Copied from the Exome Variant Server FSIP1_000131 2/4566 1/3182 1/1384
1 c.-7-167A>G r.(=) p.(=) g.40068899T>C Copied from the Exome Variant Server FSIP1_000130 1/4566 1/3182 0/1384
1 c.-7-39C>T r.(=) p.(=) g.40068771G>A Copied from the Exome Variant Server FSIP1_000129 1/12988 1/8594 0/4394
1 c.1A>G r.? p.? g.40068725T>C Copied from the Exome Variant Server FSIP1_000128 6/13006 6/8600 0/4406
1 c.21C>G r.(?) p.(Asn7Lys) g.40068705G>C Copied from the Exome Variant Server FSIP1_000127 1/13006 0/8600 1/4406
1 c.26A>G r.(?) p.(Asp9Gly) g.40068700T>C Copied from the Exome Variant Server FSIP1_000126 2/13006 2/8600 0/4406
1 c.62G>T r.(?) p.(Arg21Leu) g.40068664C>A Copied from the Exome Variant Server FSIP1_000125 2/13006 0/8600 2/4406
1 c.104C>T r.(?) p.(Ser35Leu) g.40068622G>A Copied from the Exome Variant Server FSIP1_000124 1/13006 1/8600 0/4406
1 c.126+28C>T r.(=) p.(=) g.40068572G>A Copied from the Exome Variant Server FSIP1_000123 129/13006 2/8600 127/4406
1 c.126+36C>A r.(=) p.(=) g.40068564G>T Copied from the Exome Variant Server FSIP1_000122 1/13006 1/8600 0/4406
1 c.126+41C>T r.(=) p.(=) g.40068559G>A Copied from the Exome Variant Server FSIP1_000121 1/13006 1/8600 0/4406
1 c.126+905del r.(=) p.(=) g.40067695del Copied from the Exome Variant Server FSIP1_000120 1596/5274 1391/3550 205/1724
1 c.126+1054del r.(=) p.(=) g.40067546del Copied from the Exome Variant Server FSIP1_000119 288/5448 191/3676 97/1772
1 c.126+1054dup r.(=) p.(=) g.40067546dup Copied from the Exome Variant Server FSIP1_000118 142/5448 99/3676 43/1772
1 c.126+1826A>G r.(=) p.(=) g.40066774T>C Copied from the Exome Variant Server FSIP1_000117 87/4566 1/3182 86/1384
1 c.127-2681A>G r.(=) p.(=) g.40065492T>C Copied from the Exome Variant Server FSIP1_000116 1/4560 1/3176 0/1384
1 c.127-2607G>A r.(=) p.(=) g.40065418C>T Copied from the Exome Variant Server FSIP1_000115 62/4562 1/3178 61/1384
1 c.127-2544_127-2543insT r.(=) p.(=) g.40065354_40065355insA Copied from the Exome Variant Server FSIP1_000114 1/5336 1/3622 0/1714
1 c.127-2499T>C r.(=) p.(=) g.40065310A>G Copied from the Exome Variant Server FSIP1_000113 32/4548 1/3164 31/1384
1 c.127-1329G>C r.(=) p.(=) g.40064140C>G Copied from the Exome Variant Server FSIP1_000112 2705/4566 1713/3182 992/1384
1 c.127-1270A>G r.(=) p.(=) g.40064081T>C Copied from the Exome Variant Server FSIP1_000111 1/4566 0/3182 1/1384
1 c.127-1232A>G r.(=) p.(=) g.40064043T>C Copied from the Exome Variant Server FSIP1_000110 1/4566 0/3182 1/1384
1 c.127-1184G>A r.(=) p.(=) g.40063995C>T Copied from the Exome Variant Server FSIP1_000109 30/4566 0/3182 30/1384
1 c.127-1156T>C r.(=) p.(=) g.40063967A>G Copied from the Exome Variant Server FSIP1_000108 2827/4566 1716/3182 1111/1384
1 c.127-1086G>T r.(=) p.(=) g.40063897C>A Copied from the Exome Variant Server FSIP1_000107 31/4566 0/3182 31/1384
1 c.127-1083C>T r.(=) p.(=) g.40063894G>A Copied from the Exome Variant Server FSIP1_000106 10/4566 9/3182 1/1384
1 c.127-470A>G r.(=) p.(=) g.40063281T>C Copied from the Exome Variant Server FSIP1_000105 2/4566 2/3182 0/1384
1 c.127-44G>A r.(=) p.(=) g.40062855C>T Copied from the Exome Variant Server FSIP1_000104 4677/12902 3670/8524 1007/4378
1 c.127-27C>T r.(=) p.(=) g.40062838G>A Copied from the Exome Variant Server FSIP1_000103 5275/12994 4107/8596 1168/4398
1 c.128T>G r.(?) p.(Val43Gly) g.40062810A>C Copied from the Exome Variant Server FSIP1_000102 1/13006 0/8600 1/4406
1 c.130G>A r.(?) p.(Asp44Asn) g.40062808C>T Copied from the Exome Variant Server FSIP1_000101 6/13006 6/8600 0/4406
1 c.134C>A r.(?) p.(Thr45Asn) g.40062804G>T Copied from the Exome Variant Server FSIP1_000100 16/13006 0/8600 16/4406
1 c.155G>C r.(?) p.(Gly52Ala) g.40062783C>G Copied from the Exome Variant Server FSIP1_000098 1/13006 0/8600 1/4406
1 c.160G>C r.(?) p.(Glu54Gln) g.40062778C>G Copied from the Exome Variant Server FSIP1_000096 82/13006 1/8600 81/4406
1 c.190A>G r.(?) p.(Asn64Asp) g.40062748T>C Copied from the Exome Variant Server FSIP1_000099 88/13006 0/8600 88/4406
1 c.261A>G r.(=) p.(=) g.40062677T>C Copied from the Exome Variant Server FSIP1_000097 1/13006 1/8600 0/4406
1 c.274G>C r.(?) p.(Asp92His) g.40062664C>G Copied from the Exome Variant Server FSIP1_000095 1/13006 0/8600 1/4406
1 c.275A>C r.(?) p.(Asp92Ala) g.40062663T>G Copied from the Exome Variant Server FSIP1_000094 1/13006 0/8600 1/4406
1 c.310+23G>A r.(=) p.(=) g.40062605C>T Copied from the Exome Variant Server FSIP1_000093 1/13006 0/8600 1/4406
1 c.311-49T>C r.(=) p.(=) g.40057996A>G Copied from the Exome Variant Server FSIP1_000092 3/12782 2/8488 1/4294
1 c.311-37A>G r.(=) p.(=) g.40057984T>C Copied from the Exome Variant Server FSIP1_000091 1/12918 0/8562 1/4356
1 c.311-9A>G r.(=) p.(=) g.40057956T>C Copied from the Exome Variant Server FSIP1_000090 1/12986 1/8588 0/4398
1 c.318del r.(?) p.(Lys107Asnfs*2) g.40057940del Copied from the Exome Variant Server FSIP1_000089 1/12502 1/8244 0/4258
1 c.326A>G r.(?) p.(Lys109Arg) g.40057932T>C Copied from the Exome Variant Server FSIP1_000088 5/12998 0/8594 5/4404
1 c.465+4A>C r.spl? p.? g.40057789T>G Copied from the Exome Variant Server FSIP1_000087 2/13004 2/8598 0/4406
1 c.465+29T>C r.(=) p.(=) g.40057764A>G Copied from the Exome Variant Server FSIP1_000086 2/13004 1/8598 1/4406
1 c.476A>G r.(?) p.(Tyr159Cys) g.40056105T>C Copied from the Exome Variant Server FSIP1_000085 1/12972 1/8580 0/4392
1 c.523T>A r.(?) p.(Phe175Ile) g.40056058A>T Copied from the Exome Variant Server FSIP1_000084 2/12996 0/8592 2/4404
1 c.527T>C r.(?) p.(Leu176Ser) g.40056054A>G Copied from the Exome Variant Server FSIP1_000083 1/12998 1/8592 0/4406
1 c.555T>C r.(=) p.(=) g.40056026A>G Copied from the Exome Variant Server FSIP1_000082 1/13006 0/8600 1/4406
1 c.559+18T>C r.(=) p.(=) g.40056004A>G Copied from the Exome Variant Server FSIP1_000081 1/13006 0/8600 1/4406
1 c.560-48_560-46del r.(=) p.(=) g.40034147_40034149del Copied from the Exome Variant Server FSIP1_000080 174/12496 124/8242 50/4254
1 c.560-41_560-40insT r.(=) p.(=) g.40034141_40034142insA Copied from the Exome Variant Server FSIP1_000079 1/12496 1/8242 0/4254
1 c.579A>G r.(=) p.(=) g.40034082T>C Copied from the Exome Variant Server FSIP1_000078 1/13002 1/8596 0/4406
1 c.654A>C r.(?) p.(Lys218Asn) g.40034007T>G Copied from the Exome Variant Server FSIP1_000077 1/13002 1/8596 0/4406
1 c.655+29A>G r.(=) p.(=) g.40033977T>C Copied from the Exome Variant Server FSIP1_000076 22/12998 19/8594 3/4404
1 c.668A>G r.(?) p.(Asp223Gly) g.40031978T>C Copied from the Exome Variant Server FSIP1_000075 1/12998 1/8594 0/4404
1 c.670G>A r.(?) p.(Val224Met) g.40031976C>T Copied from the Exome Variant Server FSIP1_000074 1/12998 1/8594 0/4404
1 c.676A>G r.(?) p.(Arg226Gly) g.40031970T>C Copied from the Exome Variant Server FSIP1_000073 1/12998 0/8594 1/4404
1 c.693C>G r.(?) p.(Ile231Met) g.40031953G>C Copied from the Exome Variant Server FSIP1_000072 1/13002 1/8598 0/4404
1 c.702A>G r.(=) p.(=) g.40031944T>C Copied from the Exome Variant Server FSIP1_000071 2/13002 1/8598 1/4404
1 c.717G>A r.(=) p.(=) g.40031929C>T Copied from the Exome Variant Server FSIP1_000070 1/13000 0/8596 1/4404
1 c.780+31T>A r.(=) p.(=) g.40031835A>T Copied from the Exome Variant Server FSIP1_000069 1/13000 0/8594 1/4406
1 c.781-38C>T r.(=) p.(=) g.40030440G>A Copied from the Exome Variant Server FSIP1_000068 7338/13006 4446/8600 2892/4406
1 c.781-24A>G r.(=) p.(=) g.40030426T>C Copied from the Exome Variant Server FSIP1_000067 122/13006 3/8600 119/4406
1 c.781-15T>G r.(=) p.(=) g.40030417A>C Copied from the Exome Variant Server FSIP1_000066 285/13006 255/8600 30/4406
1 c.783G>A r.(=) p.(=) g.40030400C>T Copied from the Exome Variant Server FSIP1_000065 1/13006 1/8600 0/4406
1 c.803C>G r.(?) p.(Pro268Arg) g.40030380G>C Copied from the Exome Variant Server FSIP1_000064 1/13006 0/8600 1/4406
1 c.808G>A r.(?) p.(Val270Ile) g.40030375C>T Copied from the Exome Variant Server FSIP1_000063 1/13006 1/8600 0/4406
1 c.829A>G r.(?) p.(Lys277Glu) g.40030354T>C Copied from the Exome Variant Server FSIP1_000062 76/13006 0/8600 76/4406
1 c.834G>T r.(?) p.(Arg278Ser) g.40030349C>A Copied from the Exome Variant Server FSIP1_000061 1/13006 1/8600 0/4406
1 c.873C>T r.(=) p.(=) g.40030310G>A Copied from the Exome Variant Server FSIP1_000060 3/13006 0/8600 3/4406
1 c.891+28C>G r.(=) p.(=) g.40030264G>C Copied from the Exome Variant Server FSIP1_000059 1/13006 0/8600 1/4406
1 c.892-42_892-41insA r.(=) p.(=) g.40018989_40018990insT Copied from the Exome Variant Server FSIP1_000058 2/12518 0/8254 2/4264
1 c.892-40A>G r.(=) p.(=) g.40018988T>C Copied from the Exome Variant Server FSIP1_000057 1/13006 0/8600 1/4406
1 c.926G>C r.(?) p.(Gly309Ala) g.40018914C>G Copied from the Exome Variant Server FSIP1_000056 1/13006 1/8600 0/4406
1 c.968T>C r.(?) p.(Ile323Thr) g.40018872A>G Copied from the Exome Variant Server FSIP1_000055 1/13006 0/8600 1/4406
1 c.970G>A r.(?) p.(Asp324Asn) g.40018870C>T Copied from the Exome Variant Server FSIP1_000054 18/13006 17/8600 1/4406
1 c.971A>T r.(?) p.(Asp324Val) g.40018869T>A Copied from the Exome Variant Server FSIP1_000053 2/13006 2/8600 0/4406
1 c.1002C>G r.(=) p.(=) g.40018838G>C Copied from the Exome Variant Server FSIP1_000052 1/13006 1/8600 0/4406
1 c.1032_1033insT r.(?) p.(Glu345*) g.40018807_40018808insA Copied from the Exome Variant Server FSIP1_000051 16/12518 12/8254 4/4264
1 c.1033G>A r.(?) p.(Glu345Lys) g.40018807C>T Copied from the Exome Variant Server FSIP1_000050 1/13006 0/8600 1/4406
1 c.1050+10G>A r.(=) p.(=) g.40018780C>T Copied from the Exome Variant Server FSIP1_000049 125/13006 0/8600 125/4406
1 c.1050+38_1050+39del r.(=) p.(=) g.40018751_40018752del Copied from the Exome Variant Server FSIP1_000048 157/12516 138/8252 19/4264
1 c.1051-45C>T r.(=) p.(=) g.40005827G>A Copied from the Exome Variant Server FSIP1_000047 2/13006 2/8600 0/4406
1 c.1051-22T>G r.(=) p.(=) g.40005804A>C Copied from the Exome Variant Server FSIP1_000046 62/13004 1/8598 61/4406
1 c.1051-13del r.(=) p.(=) g.40005795del Copied from the Exome Variant Server FSIP1_000045 2703/12516 1427/8252 1276/4264
1 c.1051-13dup r.(=) p.(=) g.40005795dup Copied from the Exome Variant Server FSIP1_000044 1077/12516 812/8252 265/4264
1 c.1051-13_1051-12del r.(=) p.(=) g.40005794_40005795del Copied from the Exome Variant Server FSIP1_000043 19/12516 3/8252 16/4264
1 c.1061G>A r.(?) p.(Arg354His) g.40005772C>T Copied from the Exome Variant Server FSIP1_000042 1820/13006 924/8600 896/4406
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