All transcript variants in gene PRF1

Information The variants shown are described using the NM_005041.4 transcript reference sequence.

103 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.10C>T r.(?) p.(Arg4Cys) g.72360649G>A Copied from the Exome Variant Server PRF1_000103 13/12892 1/8530 12/4362
?/? c.11G>A r.(?) p.(Arg4His) g.72360648C>T Copied from the Exome Variant Server PRF1_000102 346/12914 2/8540 344/4374
?/? c.50del r.(?) p.(Leu17Argfs*34) g.72360609del Copied from the Exome Variant Server PRF1_000101 13/12426 0/8192 13/4234
?/? c.79G>A r.(?) p.(Ala27Thr) g.72360580C>T Copied from the Exome Variant Server PRF1_000100 2/12960 1/8570 1/4390
?/? c.82C>T r.(?) p.(Arg28Cys) g.72360577G>A Copied from the Exome Variant Server PRF1_000099 7/12960 6/8570 1/4390
?/? c.96G>A r.(=) p.(=) g.72360563C>T Copied from the Exome Variant Server PRF1_000098 60/12986 3/8590 57/4396
?/? c.112G>A r.(?) p.(Val38Met) g.72360547C>T Copied from the Exome Variant Server PRF1_000097 1/12998 0/8594 1/4404
?/? c.161G>A r.(?) p.(Arg54His) g.72360498C>T Copied from the Exome Variant Server PRF1_000096 5/13006 1/8600 4/4406
?/? c.164G>A r.(?) p.(Arg55His) g.72360495C>T Copied from the Exome Variant Server PRF1_000095 1/13006 0/8600 1/4406
?/? c.202C>T r.(?) p.(Arg68Trp) g.72360457G>A Copied from the Exome Variant Server PRF1_000094 1/13006 0/8600 1/4406
?/? c.211G>A r.(?) p.(Gly71Ser) g.72360448C>T Copied from the Exome Variant Server PRF1_000093 3/13006 3/8600 0/4406
?/? c.240A>T r.(=) p.(=) g.72360419T>A Copied from the Exome Variant Server PRF1_000092 12/13006 0/8600 12/4406
?/? c.272C>T r.(?) p.(Ala91Val) g.72360387G>A Copied from the Exome Variant Server PRF1_000091 439/13006 398/8600 41/4406
?/? c.286C>A r.(=) p.(=) g.72360373G>T Copied from the Exome Variant Server PRF1_000090 10/13004 0/8598 10/4406
?/? c.311G>A r.(?) p.(Arg104His) g.72360348C>T Copied from the Exome Variant Server PRF1_000089 1/13006 1/8600 0/4406
?/? c.363G>A r.(=) p.(=) g.72360296C>T Copied from the Exome Variant Server PRF1_000088 2/13006 1/8600 1/4406
?/? c.368G>A r.(?) p.(Arg123His) g.72360291C>T Copied from the Exome Variant Server PRF1_000087 12/13004 10/8598 2/4406
?/? c.393C>A r.(=) p.(=) g.72360266G>T Copied from the Exome Variant Server PRF1_000086 1/13006 0/8600 1/4406
?/? c.403G>A r.(?) p.(Val135Met) g.72360256C>T Copied from the Exome Variant Server PRF1_000085 37/13006 1/8600 36/4406
?/? c.435G>A r.(=) p.(=) g.72360224C>T Copied from the Exome Variant Server PRF1_000084 159/13006 71/8600 88/4406
?/? c.444C>T r.(=) p.(=) g.72360215G>A Copied from the Exome Variant Server PRF1_000083 53/13006 0/8600 53/4406
?/? c.445G>A r.(?) p.(Gly149Ser) g.72360214C>T Copied from the Exome Variant Server PRF1_000082 1/13006 1/8600 0/4406
?/? c.462A>G r.(=) p.(=) g.72360197T>C Copied from the Exome Variant Server PRF1_000081 206/13006 71/8600 135/4406
?/? c.465C>T r.(=) p.(=) g.72360194G>A Copied from the Exome Variant Server PRF1_000080 1/13006 0/8600 1/4406
?/? c.477C>G r.(=) p.(=) g.72360182G>C Copied from the Exome Variant Server PRF1_000079 1/13006 0/8600 1/4406
?/? c.489C>T r.(=) p.(=) g.72360170G>A Copied from the Exome Variant Server PRF1_000078 2/13006 0/8600 2/4406
?/? c.519G>A r.(=) p.(=) g.72360140C>T Copied from the Exome Variant Server PRF1_000077 14/13006 12/8600 2/4406
?/? c.528C>T r.(=) p.(=) g.72360131G>A Copied from the Exome Variant Server PRF1_000076 9/13006 9/8600 0/4406
?/? c.539+4A>G r.spl? p.? g.72360116T>C Copied from the Exome Variant Server PRF1_000075 1/13006 0/8600 1/4406
?/? c.539+5G>A r.spl? p.? g.72360115C>T Copied from the Exome Variant Server PRF1_000074 1/13006 1/8600 0/4406
?/? c.539+22G>C r.(=) p.(=) g.72360098C>G Copied from the Exome Variant Server PRF1_000073 332/13006 5/8600 327/4406
?/? c.539+39G>A r.(=) p.(=) g.72360081C>T Copied from the Exome Variant Server PRF1_000072 309/13006 116/8600 193/4406
?/? c.539+46A>G r.(=) p.(=) g.72360074T>C Copied from the Exome Variant Server PRF1_000071 1/13006 1/8600 0/4406
?/? c.540-28C>A r.(=) p.(=) g.72358965G>T Copied from the Exome Variant Server PRF1_000070 5/12994 3/8600 2/4394
?/? c.540-11T>C r.(=) p.(=) g.72358948A>G Copied from the Exome Variant Server PRF1_000068 1/13002 0/8598 1/4404
?/? c.540-5C>T r.spl? p.? g.72358942G>A Copied from the Exome Variant Server PRF1_000066 1/13002 0/8598 1/4404
?/? c.545A>G r.(?) p.(His182Arg) g.72358932T>C Copied from the Exome Variant Server PRF1_000064 1/13004 0/8598 1/4406
?/? c.563C>T r.(?) p.(Pro188Leu) g.72358914G>A Copied from the Exome Variant Server PRF1_000062 5/13004 0/8600 5/4404
?/? c.615C>T r.(=) p.(=) g.72358862G>A Copied from the Exome Variant Server PRF1_000060 11/13006 0/8600 11/4406
?/? c.624C>T r.(=) p.(=) g.72358853G>A Copied from the Exome Variant Server PRF1_000058 1/13006 1/8600 0/4406
?/? c.626A>C r.(?) p.(Gln209Pro) g.72358851T>G Copied from the Exome Variant Server PRF1_000056 1/13006 0/8600 1/4406
?/? c.630C>T r.(=) p.(=) g.72358847G>A Copied from the Exome Variant Server PRF1_000055 1/13006 0/8600 1/4406
?/? c.674G>A r.(?) p.(Arg225Gln) g.72358803C>T Copied from the Exome Variant Server PRF1_000053 3/13006 3/8600 0/4406
?/? c.702G>A r.(=) p.(=) g.72358775C>T Copied from the Exome Variant Server PRF1_000051 127/13006 1/8600 126/4406
?/? c.704C>T r.(?) p.(Ala235Val) g.72358773G>A Copied from the Exome Variant Server PRF1_000049 2/13006 2/8600 0/4406
?/? c.726C>T r.(=) p.(=) g.72358751G>A Copied from the Exome Variant Server PRF1_000047 174/13006 2/8600 172/4406
?/? c.755A>G r.(?) p.(Asn252Ser) g.72358722T>C Copied from the Exome Variant Server PRF1_000069 110/13006 70/8600 40/4406
?/? c.756C>T r.(=) p.(=) g.72358721G>A Copied from the Exome Variant Server PRF1_000067 2/13006 2/8600 0/4406
?/? c.790G>A r.(?) p.(Val264Ile) g.72358687C>T Copied from the Exome Variant Server PRF1_000065 1/13006 0/8600 1/4406
?/? c.807C>T r.(=) p.(=) g.72358670G>A Copied from the Exome Variant Server PRF1_000063 5/13006 5/8600 0/4406
?/? c.808G>A r.(?) p.(Gly270Ser) g.72358669C>T Copied from the Exome Variant Server PRF1_000061 1/13006 0/8600 1/4406
?/? c.822C>T r.(=) p.(=) g.72358655G>A Copied from the Exome Variant Server PRF1_000059 1923/13006 1555/8600 368/4406
?/? c.866C>T r.(?) p.(Thr289Met) g.72358611G>A Copied from the Exome Variant Server PRF1_000057 4/13006 0/8600 4/4406
?/? c.870C>G r.(=) p.(=) g.72358607G>C Copied from the Exome Variant Server PRF1_000054 1/13006 0/8600 1/4406
?/? c.873C>T r.(=) p.(=) g.72358604G>A Copied from the Exome Variant Server PRF1_000052 11/13006 0/8600 11/4406
?/? c.886T>C r.(?) p.(Tyr296His) g.72358591A>G Copied from the Exome Variant Server PRF1_000050 1/13006 1/8600 0/4406
?/? c.900C>T r.(=) p.(=) g.72358577G>A Copied from the Exome Variant Server PRF1_000048 8615/13006 5111/8600 3504/4406
?/? c.927C>T r.(=) p.(=) g.72358550G>A Copied from the Exome Variant Server PRF1_000046 2/13006 0/8600 2/4406
?/? c.945G>A r.(=) p.(=) g.72358532C>T Copied from the Exome Variant Server PRF1_000045 2/13006 0/8600 2/4406
?/? c.961G>A r.(?) p.(Gly321Arg) g.72358516C>T Copied from the Exome Variant Server PRF1_000044 1/13006 0/8600 1/4406
?/? c.990C>T r.(=) p.(=) g.72358487G>A Copied from the Exome Variant Server PRF1_000043 1/13006 1/8600 0/4406
?/? c.999C>T r.(=) p.(=) g.72358478G>A Copied from the Exome Variant Server PRF1_000042 3/13006 2/8600 1/4406
?/? c.1000G>A r.(?) p.(Gly334Ser) g.72358477C>T Copied from the Exome Variant Server PRF1_000041 6/13006 6/8600 0/4406
?/? c.1036C>T r.(=) p.(=) g.72358441G>A Copied from the Exome Variant Server PRF1_000040 1/13004 0/8598 1/4406
?/? c.1041C>T r.(=) p.(=) g.72358436G>A Copied from the Exome Variant Server PRF1_000039 18/13002 0/8596 18/4406
?/? c.1070G>A r.(?) p.(Arg357Gln) g.72358407C>T Copied from the Exome Variant Server PRF1_000037 7/12994 2/8590 5/4404
?/? c.1078C>T r.(=) p.(=) g.72358399G>A Copied from the Exome Variant Server PRF1_000035 3/13000 0/8596 3/4404
?/? c.1106C>T r.(?) p.(Thr369Met) g.72358371G>A Copied from the Exome Variant Server PRF1_000033 2/13002 0/8598 2/4404
?/? c.1107G>A r.(=) p.(=) g.72358370C>T Copied from the Exome Variant Server PRF1_000031 1/13002 0/8598 1/4404
?/? c.1117C>T r.(?) p.(Arg373Cys) g.72358360G>A Copied from the Exome Variant Server PRF1_000029 3/13002 3/8598 0/4404
?/? c.1118G>A r.(?) p.(Arg373His) g.72358359C>T Copied from the Exome Variant Server PRF1_000027 1/13000 0/8598 1/4402
?/? c.1119C>A r.(=) p.(=) g.72358358G>T Copied from the Exome Variant Server PRF1_000038 1/13000 0/8598 1/4402
?/? c.1140G>A r.(=) p.(=) g.72358337C>T Copied from the Exome Variant Server PRF1_000036 3/12976 0/8588 3/4388
?/? c.1144C>T r.(?) p.(Pro382Ser) g.72358333G>A Copied from the Exome Variant Server PRF1_000034 3/12984 3/8592 0/4392
?/? c.1165C>T r.(?) p.(Pro389Ser) g.72358312G>A Copied from the Exome Variant Server PRF1_000032 1/12988 1/8590 0/4398
?/? c.1194T>G r.(?) p.(His398Gln) g.72358283A>C Copied from the Exome Variant Server PRF1_000030 1/12994 1/8592 0/4402
?/? c.1202C>T r.(?) p.(Ala401Val) g.72358275G>A Copied from the Exome Variant Server PRF1_000028 2/12996 2/8594 0/4402
?/? c.1206C>T r.(=) p.(=) g.72358271G>A Copied from the Exome Variant Server PRF1_000026 1/12992 0/8592 1/4400
?/? c.1207A>G r.(?) p.(Thr403Ala) g.72358270T>C Copied from the Exome Variant Server PRF1_000025 1/12992 0/8592 1/4400
?/? c.1228C>T r.(?) p.(Arg410Trp) g.72358249G>A Copied from the Exome Variant Server PRF1_000024 1/12988 0/8586 1/4402
?/? c.1229G>A r.(?) p.(Arg410Gln) g.72358248C>T Copied from the Exome Variant Server PRF1_000023 1/12994 0/8590 1/4404
?/? c.1262T>G r.(?) p.(Phe421Cys) g.72358215A>C Copied from the Exome Variant Server PRF1_000022 4/13004 1/8598 3/4406
?/? c.1274G>A r.(?) p.(Trp425*) g.72358203C>T Copied from the Exome Variant Server PRF1_000021 1/13006 1/8600 0/4406
?/? c.1304C>T r.(?) p.(Thr435Met) g.72358173G>A Copied from the Exome Variant Server PRF1_000020 1/13006 1/8600 0/4406
?/? c.1310C>T r.(?) p.(Ala437Val) g.72358167G>A Copied from the Exome Variant Server PRF1_000019 8/13006 8/8600 0/4406
?/? c.1339G>C r.(?) p.(Glu447Gln) g.72358138C>G Copied from the Exome Variant Server PRF1_000018 1/13006 1/8600 0/4406
?/? c.1350G>A r.(=) p.(=) g.72358127C>T Copied from the Exome Variant Server PRF1_000017 1/13006 1/8600 0/4406
?/? c.1357G>A r.(?) p.(Val453Met) g.72358120C>T Copied from the Exome Variant Server PRF1_000016 2/13006 0/8600 2/4406
?/? c.1377C>T r.(=) p.(=) g.72358100G>A Copied from the Exome Variant Server PRF1_000015 3/13006 0/8600 3/4406
?/? c.1411C>T r.(?) p.(Leu471Phe) g.72358066G>A Copied from the Exome Variant Server PRF1_000014 2/13006 0/8600 2/4406
?/? c.1427G>A r.(?) p.(Gly476Glu) g.72358050C>T Copied from the Exome Variant Server PRF1_000013 1/13006 1/8600 0/4406
?/? c.1428G>A r.(=) p.(=) g.72358049C>T Copied from the Exome Variant Server PRF1_000012 18/13006 0/8600 18/4406
?/? c.1473T>C r.(=) p.(=) g.72358004A>G Copied from the Exome Variant Server PRF1_000011 1/13006 0/8600 1/4406
?/? c.1499C>T r.(?) p.(Ala500Val) g.72357978G>A Copied from the Exome Variant Server PRF1_000010 1/13006 1/8600 0/4406
?/? c.1501C>T r.(?) p.(Pro501Ser) g.72357976G>A Copied from the Exome Variant Server PRF1_000009 1/13006 1/8600 0/4406
?/? c.1558C>T r.(?) p.(Arg520Cys) g.72357919G>A Copied from the Exome Variant Server PRF1_000008 1/13006 0/8600 1/4406
?/? c.1560C>T r.(=) p.(=) g.72357917G>A Copied from the Exome Variant Server PRF1_000007 28/13006 0/8600 28/4406
?/? c.1574G>A r.(?) p.(Cys525Tyr) g.72357903C>T Copied from the Exome Variant Server PRF1_000006 1/13006 1/8600 0/4406
?/? c.1620A>G r.(=) p.(=) g.72357857T>C Copied from the Exome Variant Server PRF1_000005 2/13006 2/8600 0/4406
?/? c.1639C>T r.(?) p.(Pro547Ser) g.72357838G>A Copied from the Exome Variant Server PRF1_000004 1/13006 0/8600 1/4406
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