All transcript variants in gene CFI

Information The variants shown are described using the NM_000204.3 transcript reference sequence.

118 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-34C>A r.(=) p.(=) g.110723161G>T Copied from the Exome Variant Server CFI_000117 1/13006 1/8600 0/4406
?/? c.-13G>A r.(=) p.(=) g.110723140C>T Copied from the Exome Variant Server CFI_000116 263/13006 243/8600 20/4406
?/? c.-4C>T r.(=) p.(=) g.110723131G>A Copied from the Exome Variant Server CFI_000115 1/13006 1/8600 0/4406
?/? c.11T>A r.(?) p.(Leu4His) g.110723117A>T Copied from the Exome Variant Server CFI_000114 3/13006 0/8600 3/4406
?/? c.57+20T>G r.(=) p.(=) g.110723051A>C Copied from the Exome Variant Server CFI_000113 1/13006 1/8600 0/4406
?/? c.57+54A>G r.(=) p.(=) g.110723017T>C Copied from the Exome Variant Server CFI_000112 126/4564 11/3180 115/1384
?/? c.58-48G>A r.(=) p.(=) g.110688028C>T Copied from the Exome Variant Server CFI_000111 20/12990 0/8598 20/4392
?/? c.58-35T>C r.(=) p.(=) g.110688015A>G Copied from the Exome Variant Server CFI_000110 1/12998 0/8594 1/4404
?/? c.65A>G r.(?) p.(Tyr22Cys) g.110687973T>C Copied from the Exome Variant Server CFI_000109 4/13006 0/8600 4/4406
?/? c.68C>T r.(?) p.(Thr23Ile) g.110687970G>A Copied from the Exome Variant Server CFI_000108 1/13006 0/8600 1/4406
?/? c.70T>A r.(?) p.(Ser24Thr) g.110687968A>T Copied from the Exome Variant Server CFI_000107 1/13006 1/8600 0/4406
?/? c.91A>C r.(?) p.(Lys31Gln) g.110687947T>G Copied from the Exome Variant Server CFI_000106 1/13006 1/8600 0/4406
?/? c.129C>T r.(=) p.(=) g.110687909G>A Copied from the Exome Variant Server CFI_000105 1/13006 1/8600 0/4406
?/? c.130G>A r.(?) p.(Asp44Asn) g.110687908C>T Copied from the Exome Variant Server CFI_000104 2/13006 1/8600 1/4406
?/? c.148C>G r.(?) p.(Pro50Ala) g.110687890G>C Copied from the Exome Variant Server CFI_000103 1/13006 1/8600 0/4406
?/? c.163A>G r.(?) p.(Ile55Val) g.110687875T>C Copied from the Exome Variant Server CFI_000102 1/13006 0/8600 1/4406
?/? c.215C>G r.(?) p.(Thr72Ser) g.110687823G>C Copied from the Exome Variant Server CFI_000101 1/13006 1/8600 0/4406
?/? c.219A>C r.(=) p.(=) g.110687819T>G Copied from the Exome Variant Server CFI_000100 2/13006 0/8600 2/4406
?/? c.244T>C r.(?) p.(Phe82Leu) g.110687794A>G Copied from the Exome Variant Server CFI_000099 1/13006 0/8600 1/4406
?/? c.288A>G r.(=) p.(=) g.110687750T>C Copied from the Exome Variant Server CFI_000098 1/13006 0/8600 1/4406
?/? c.315A>T r.(=) p.(=) g.110687723T>A Copied from the Exome Variant Server CFI_000097 75/13006 0/8600 75/4406
?/? c.319A>G r.(?) p.(Thr107Ala) g.110687719T>C Copied from the Exome Variant Server CFI_000095 2/13006 1/8600 1/4406
?/? c.328+52A>G r.(=) p.(=) g.110687658T>C Copied from the Exome Variant Server CFI_000093 7/5734 7/3982 0/1752
?/? c.329-8_329-7insT r.(=) p.(=) g.110685853_110685854insA Copied from the Exome Variant Server CFI_000091 3/12518 0/8254 3/4264
?/? c.338G>T r.(?) p.(Ser113Ile) g.110685837C>A Copied from the Exome Variant Server CFI_000089 1/13006 0/8600 1/4406
?/? c.354T>C r.(=) p.(=) g.110685821A>G Copied from the Exome Variant Server CFI_000087 1/13006 0/8600 1/4406
?/? c.355G>A r.(?) p.(Gly119Arg) g.110685820C>T Copied from the Exome Variant Server CFI_000085 11/13006 11/8600 0/4406
?/? c.405T>C r.(=) p.(=) g.110685770A>G Copied from the Exome Variant Server CFI_000096 1/13006 1/8600 0/4406
?/? c.429C>T r.(=) p.(=) g.110685746G>A Copied from the Exome Variant Server CFI_000094 6/13006 0/8600 6/4406
?/? c.444G>A r.(=) p.(=) g.110685731C>T Copied from the Exome Variant Server CFI_000092 1/13006 1/8600 0/4406
?/? c.454G>A r.(?) p.(Val152Met) g.110685721C>T Copied from the Exome Variant Server CFI_000090 1/13006 1/8600 0/4406
?/? c.482+6C>T r.(=) p.(=) g.110685687G>A Copied from the Exome Variant Server CFI_000088 465/13006 29/8600 436/4406
?/? c.482+8C>T r.(=) p.(=) g.110685685G>A Copied from the Exome Variant Server CFI_000086 8/13006 2/8600 6/4406
?/? c.482+14T>A r.(=) p.(=) g.110685679A>T Copied from the Exome Variant Server CFI_000084 191/13006 20/8600 171/4406
?/? c.483-28C>T r.(=) p.(=) g.110682876G>A Copied from the Exome Variant Server CFI_000083 18/13004 0/8600 18/4404
?/? c.502A>G r.(?) p.(Arg168Gly) g.110682829T>C Copied from the Exome Variant Server CFI_000082 1/13006 0/8600 1/4406
?/? c.504G>T r.(?) p.(Arg168Ser) g.110682827C>A Copied from the Exome Variant Server CFI_000081 1/13006 0/8600 1/4406
?/? c.534C>T r.(=) p.(=) g.110682797G>A Copied from the Exome Variant Server CFI_000080 1/13006 0/8600 1/4406
?/? c.548A>G r.(?) p.(His183Arg) g.110682783T>C Copied from the Exome Variant Server CFI_000079 26/13006 0/8600 26/4406
?/? c.559C>T r.(?) p.(Arg187*) g.110682772G>A Copied from the Exome Variant Server CFI_000078 1/13006 1/8600 0/4406
?/? c.560G>A r.(?) p.(Arg187Gln) g.110682771C>T Copied from the Exome Variant Server CFI_000077 3/13006 3/8600 0/4406
?/? c.589A>G r.(?) p.(Thr197Ala) g.110682742T>C Copied from the Exome Variant Server CFI_000076 1/13006 1/8600 0/4406
?/? c.605G>A r.(?) p.(Arg202Lys) g.110682726C>T Copied from the Exome Variant Server CFI_000075 1/13006 0/8600 1/4406
?/? c.608C>T r.(?) p.(Thr203Ile) g.110682723G>A Copied from the Exome Variant Server CFI_000074 7/13006 7/8600 0/4406
?/? c.612G>A r.(?) p.(Met204Ile) g.110682719C>T Copied from the Exome Variant Server CFI_000073 1/13006 0/8600 1/4406
?/? c.616T>A r.(?) p.(Tyr206Asn) g.110682715A>T Copied from the Exome Variant Server CFI_000072 1/13006 1/8600 0/4406
?/? c.645T>C r.(=) p.(=) g.110682686A>G Copied from the Exome Variant Server CFI_000071 1/13006 1/8600 0/4406
?/? c.658+17C>A r.(=) p.(=) g.110682656G>T Copied from the Exome Variant Server CFI_000070 1/13006 1/8600 0/4406
?/? c.659-35A>G r.(=) p.(=) g.110681827T>C Copied from the Exome Variant Server CFI_000069 1/12998 1/8598 0/4400
?/? c.662C>A r.(?) p.(Ser221Tyr) g.110681789G>T Copied from the Exome Variant Server CFI_000068 1/13006 1/8600 0/4406
?/? c.705T>C r.(=) p.(=) g.110681746A>G Copied from the Exome Variant Server CFI_000067 2/13006 0/8600 2/4406
?/? c.719C>G r.(?) p.(Ala240Gly) g.110681732G>C Copied from the Exome Variant Server CFI_000066 5/13006 5/8600 0/4406
?/? c.726T>C r.(=) p.(=) g.110681725A>G Copied from the Exome Variant Server CFI_000065 1/13006 1/8600 0/4406
?/? c.772G>A r.(?) p.(Ala258Thr) g.110681679C>T Copied from the Exome Variant Server CFI_000064 4/13006 4/8600 0/4406
?/? c.772+37A>G r.(=) p.(=) g.110681642T>C Copied from the Exome Variant Server CFI_000063 1/13006 1/8600 0/4406
?/? c.773-42T>C r.(=) p.(=) g.110681578A>G Copied from the Exome Variant Server CFI_000062 1/13006 1/8600 0/4406
?/? c.773-23C>T r.(=) p.(=) g.110681559G>A Copied from the Exome Variant Server CFI_000061 1/13006 1/8600 0/4406
?/? c.773-12_773-11del r.(=) p.(=) g.110681547_110681548del Copied from the Exome Variant Server CFI_000060 1/12520 0/8254 1/4266
?/? c.773-10G>A r.(=) p.(=) g.110681546C>T Copied from the Exome Variant Server CFI_000059 1/13006 0/8600 1/4406
?/? c.773-3C>T r.spl? p.? g.110681539G>A Copied from the Exome Variant Server CFI_000058 1/13006 1/8600 0/4406
?/? c.782G>A r.(?) p.(Gly261Asp) g.110681527C>T Copied from the Exome Variant Server CFI_000057 22/13006 17/8600 5/4406
?/? c.804G>A r.(=) p.(=) g.110681505C>T Copied from the Exome Variant Server CFI_000056 3826/13006 2195/8600 1631/4406
?/? c.859G>A r.(?) p.(Gly287Arg) g.110681450C>T Copied from the Exome Variant Server CFI_000055 1/13006 1/8600 0/4406
?/? c.884-41_884-40insTTAAA r.(=) p.(=) g.110678979_110678980insTTTAA Copied from the Exome Variant Server CFI_000054 9667/10174 6813/6866 2854/3308
?/? c.898A>G N/A N/A g.110678925T>C Copied from the Exome Variant Server CFI_000053 12178/12620 8486/8494 3692/4126
?/? c.905-26C>T r.(=) p.(=) g.110673685G>A Copied from the Exome Variant Server CFI_000052 1/13000 0/8598 1/4402
?/? c.916A>G r.(?) p.(Ile306Val) g.110673648T>C Copied from the Exome Variant Server CFI_000051 20/13002 0/8596 20/4406
?/? c.941-49C>G r.(=) p.(=) g.110670807G>C Copied from the Exome Variant Server CFI_000050 12564/13004 8593/8598 3971/4406
?/? c.941-44A>G r.(=) p.(=) g.110670802T>C Copied from the Exome Variant Server CFI_000049 2/13004 2/8598 0/4406
?/? c.941-41G>C r.(=) p.(=) g.110670799C>G Copied from the Exome Variant Server CFI_000048 1/13006 0/8600 1/4406
?/? c.949C>T r.(?) p.(Arg317Trp) g.110670750G>A Copied from the Exome Variant Server CFI_000046 2/13002 2/8600 0/4402
?/? c.982G>A r.(?) p.(Gly328Arg) g.110670717C>T Copied from the Exome Variant Server CFI_000118 1/13004 1/8600 0/4404
?/? c.993del r.(?) p.(Asn331Lysfs*46) g.110670706del Copied from the Exome Variant Server CFI_000044 1/12518 0/8254 1/4264
?/? c.1012A>C r.(?) p.(Lys338Gln) g.110670687T>G Copied from the Exome Variant Server CFI_000042 1/13006 1/8600 0/4406
?/? c.1044+14A>T r.(=) p.(=) g.110670641T>A Copied from the Exome Variant Server CFI_000039 3/13006 0/8600 3/4406
?/? c.1044+17A>G r.(=) p.(=) g.110670638T>C Copied from the Exome Variant Server CFI_000037 5/13006 5/8600 0/4406
?/? c.1044+24A>G r.(=) p.(=) g.110670631T>C Copied from the Exome Variant Server CFI_000035 1/13006 0/8600 1/4406
?/? c.1044+26G>A r.(=) p.(=) g.110670629C>T Copied from the Exome Variant Server CFI_000047 1/13006 1/8600 0/4406
?/? c.1044+35C>G r.(=) p.(=) g.110670620G>C Copied from the Exome Variant Server CFI_000045 1/13006 0/8600 1/4406
?/? c.1045-49G>A r.(=) p.(=) g.110670526C>T Copied from the Exome Variant Server CFI_000043 2/13006 2/8600 0/4406
?/? c.1045-28G>C r.(=) p.(=) g.110670505C>G Copied from the Exome Variant Server CFI_000041 5/13006 5/8600 0/4406
?/? c.1045-10T>C r.(=) p.(=) g.110670487A>G Copied from the Exome Variant Server CFI_000040 1/13006 1/8600 0/4406
?/? c.1134T>C r.(=) p.(=) g.110670388A>G Copied from the Exome Variant Server CFI_000038 1/13006 1/8600 0/4406
?/? c.1148+8A>C r.(=) p.(=) g.110670366T>G Copied from the Exome Variant Server CFI_000036 1/13006 1/8600 0/4406
?/? c.1148+34C>T r.(=) p.(=) g.110670340G>A Copied from the Exome Variant Server CFI_000034 9/13006 7/8600 2/4406
?/? c.1148+35G>A r.(=) p.(=) g.110670339C>T Copied from the Exome Variant Server CFI_000033 26/13006 1/8600 25/4406
?/? c.1149-28T>C r.(=) p.(=) g.110667686A>G Copied from the Exome Variant Server CFI_000032 4/12948 0/8560 4/4388
?/? c.1206C>T r.(=) p.(=) g.110667601G>A Copied from the Exome Variant Server CFI_000031 80/13006 3/8600 77/4406
?/? c.1207G>A r.(?) p.(Asp403Asn) g.110667600C>T Copied from the Exome Variant Server CFI_000030 1/13006 1/8600 0/4406
?/? c.1216C>T r.(?) p.(Arg406Cys) g.110667591G>A Copied from the Exome Variant Server CFI_000029 1/13006 1/8600 0/4406
?/? c.1217G>A r.(?) p.(Arg406His) g.110667590C>T Copied from the Exome Variant Server CFI_000028 16/13006 8/8600 8/4406
?/? c.1234G>A r.(?) p.(Val412Met) g.110667573C>T Copied from the Exome Variant Server CFI_000027 1/13006 1/8600 0/4406
?/? c.1235T>A r.(?) p.(Val412Glu) g.110667572A>T Copied from the Exome Variant Server CFI_000026 1/13006 0/8600 1/4406
?/? c.1246A>C r.(?) p.(Ile416Leu) g.110667561T>G Copied from the Exome Variant Server CFI_000025 58/13006 1/8600 57/4406
?/? c.1253A>T r.(?) p.(His418Leu) g.110667554T>A Copied from the Exome Variant Server CFI_000024 1/13006 1/8600 0/4406
?/? c.1322A>G r.(?) p.(Lys441Arg) g.110667485T>C Copied from the Exome Variant Server CFI_000023 47/13006 45/8600 2/4406
?/? c.1335G>T r.(?) p.(Glu445Asp) g.110667472C>A Copied from the Exome Variant Server CFI_000022 2/13006 0/8600 2/4406
?/? c.1347C>T r.(=) p.(=) g.110667460G>A Copied from the Exome Variant Server CFI_000021 2/13006 2/8600 0/4406
?/? c.1386A>T r.(?) p.(Gln462His) g.110667421T>A Copied from the Exome Variant Server CFI_000020 2/13006 2/8600 0/4406
?/? c.1420C>T r.(?) p.(Arg474*) g.110667387G>A Copied from the Exome Variant Server CFI_000019 1/13006 1/8600 0/4406
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