Full data view for gene PPIL4

Information The variants shown are described using the NM_139126.3 transcript reference sequence.

83 entries on 1 page. Showing entries 1 - 83.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-57G>T r.(=) p.(=) g.149867198C>A Copied from the Exome Variant Server PPIL4_000083 11/4564 1/3180 10/1384 - - - - - - -
?/? c.-47G>T r.(=) p.(=) g.149867188C>A Copied from the Exome Variant Server PPIL4_000082 1/12606 0/8312 1/4294 - - - - - - -
?/? c.-40C>T r.(=) p.(=) g.149867181G>A Copied from the Exome Variant Server PPIL4_000081 1/12688 1/8364 0/4324 - - - - - - -
?/? c.-38_-37insC r.(=) p.(=) g.149867178_149867179insG Copied from the Exome Variant Server PPIL4_000080 110/11828 71/7788 39/4040 - - - - - - -
?/? c.12A>G r.(=) p.(=) g.149867130T>C Copied from the Exome Variant Server PPIL4_000079 1/12930 1/8546 0/4384 - - - - - - -
?/? c.21C>T r.(=) p.(=) g.149867121G>A Copied from the Exome Variant Server PPIL4_000078 5/12956 0/8568 5/4388 - - - - - - -
?/? c.27A>G r.(=) p.(=) g.149867115T>C Copied from the Exome Variant Server PPIL4_000077 1/12970 0/8576 1/4394 - - - - - - -
?/? c.70+34del r.(=) p.(=) g.149867038del Copied from the Exome Variant Server PPIL4_000076 49/12356 32/8148 17/4208 - - - - - - -
?/? c.71-47T>C r.(=) p.(=) g.149862769A>G Copied from the Exome Variant Server PPIL4_000075 1/12974 1/8578 0/4396 - - - - - - -
?/? c.72C>T r.(=) p.(=) g.149862721G>A Copied from the Exome Variant Server PPIL4_000074 6/13006 6/8600 0/4406 - - - - - - -
?/? c.139-36A>T r.(=) p.(=) g.149862603T>A Copied from the Exome Variant Server PPIL4_000073 2/13006 0/8600 2/4406 - - - - - - -
?/? c.139-11A>G r.(=) p.(=) g.149862578T>C Copied from the Exome Variant Server PPIL4_000072 90/13006 3/8600 87/4406 - - - - - - -
?/? c.168T>G r.(=) p.(=) g.149862538A>C Copied from the Exome Variant Server PPIL4_000071 27/13006 27/8600 0/4406 - - - - - - -
?/? c.192G>T r.(?) p.(Glu64Asp) g.149862514C>A Copied from the Exome Variant Server PPIL4_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.196A>G r.(?) p.(Ile66Val) g.149862510T>C Copied from the Exome Variant Server PPIL4_000069 49/13006 0/8600 49/4406 - - - - - - -
?/? c.203+34_203+37del r.(=) p.(=) g.149862466_149862469del Copied from the Exome Variant Server PPIL4_000067 803/7820 210/5480 593/2340 - - - - - - -
?/? c.203+34_203+37dup r.(=) p.(=) g.149862466_149862469dup Copied from the Exome Variant Server PPIL4_000068 492/7820 208/5480 284/2340 - - - - - - -
?/? c.203+34_203+41del r.(=) p.(=) g.149862462_149862469del Copied from the Exome Variant Server PPIL4_000066 37/7820 20/5480 17/2340 - - - - - - -
?/? c.203+34_203+49del r.(=) p.(=) g.149862454_149862469del Copied from the Exome Variant Server PPIL4_000065 10/7820 4/5480 6/2340 - - - - - - -
?/? c.203+50_203+51del r.(=) p.(=) g.149862452_149862453del Copied from the Exome Variant Server PPIL4_000064 147/8330 58/5780 89/2550 - - - - - - -
?/? c.204-32A>G r.(=) p.(=) g.149862227T>C Copied from the Exome Variant Server PPIL4_000063 4/13006 4/8600 0/4406 - - - - - - -
?/? c.204-4_204-3insT r.spl? p.? g.149862198_149862199insA Copied from the Exome Variant Server PPIL4_000062 90/12518 1/8254 89/4264 - - - - - - -
?/? c.275G>A r.(?) p.(Gly92Asp) g.149862124C>T Copied from the Exome Variant Server PPIL4_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.301A>G r.(?) p.(Ser101Gly) g.149862098T>C Copied from the Exome Variant Server PPIL4_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.321+21A>G r.(=) p.(=) g.149862057T>C Copied from the Exome Variant Server PPIL4_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.322-5del r.spl? p.? g.149856879del Copied from the Exome Variant Server PPIL4_000058 1/12516 0/8252 1/4264 - - - - - - -
?/? c.371C>T r.(?) p.(Thr124Met) g.149856825G>A Copied from the Exome Variant Server PPIL4_000056 1/13004 1/8598 0/4406 - - - - - - -
?/? c.425C>A r.(?) p.(Thr142Asn) g.149856771G>T Copied from the Exome Variant Server PPIL4_000054 1/13002 1/8596 0/4406 - - - - - - -
?/? c.441C>G r.(?) p.(Asp147Glu) g.149856755G>C Copied from the Exome Variant Server PPIL4_000052 7/13004 0/8598 7/4406 - - - - - - -
?/? c.464+18T>C r.(=) p.(=) g.149856714A>G Copied from the Exome Variant Server PPIL4_000050 53/13004 0/8598 53/4406 - - - - - - -
?/? c.464+48G>T r.(=) p.(=) g.149856684C>A Copied from the Exome Variant Server PPIL4_000048 3/13002 3/8596 0/4406 - - - - - - -
?/? c.465-30A>G r.(=) p.(=) g.149855940T>C Copied from the Exome Variant Server PPIL4_000046 1/12990 1/8588 0/4402 - - - - - - -
?/? c.494C>G r.(?) p.(Pro165Arg) g.149855881G>C Copied from the Exome Variant Server PPIL4_000044 1/13002 1/8596 0/4406 - - - - - - -
?/? c.542C>T r.(?) p.(Pro181Leu) g.149855833G>A Copied from the Exome Variant Server PPIL4_000042 1/13000 1/8594 0/4406 - - - - - - -
?/? c.549G>T r.(?) p.(Arg183Ser) g.149855826C>A Copied from the Exome Variant Server PPIL4_000040 2/13002 2/8596 0/4406 - - - - - - -
?/? c.562-48del r.(=) p.(=) g.149854758del Copied from the Exome Variant Server PPIL4_000039 1/12430 0/8212 1/4218 - - - - - - -
?/? c.562-26T>G r.(=) p.(=) g.149854736A>C Copied from the Exome Variant Server PPIL4_000037 4/12992 0/8592 4/4400 - - - - - - -
?/? c.562-4A>G r.spl? p.? g.149854714T>C Copied from the Exome Variant Server PPIL4_000034 5/13000 3/8598 2/4402 - - - - - - -
?/? c.575G>A r.(?) p.(Gly192Glu) g.149854697C>T Copied from the Exome Variant Server PPIL4_000057 1/13000 0/8598 1/4402 - - - - - - -
?/? c.611C>G r.(?) p.(Ser204*) g.149854661G>C Copied from the Exome Variant Server PPIL4_000055 1/13002 1/8598 0/4404 - - - - - - -
?/? c.679-50A>G r.(=) p.(=) g.149847962T>C Copied from the Exome Variant Server PPIL4_000053 1/13002 1/8596 0/4406 - - - - - - -
?/? c.729_730insT r.(?) p.(Val244Cysfs*3) g.149847861_149847862insA Copied from the Exome Variant Server PPIL4_000051 2/12516 2/8252 0/4264 - - - - - - -
?/? c.758A>G r.(?) p.(Asp253Gly) g.149847833T>C Copied from the Exome Variant Server PPIL4_000049 2/13002 2/8598 0/4404 - - - - - - -
?/? c.772A>G r.(?) p.(Ile258Val) g.149847819T>C Copied from the Exome Variant Server PPIL4_000047 5/13002 0/8598 5/4404 - - - - - - -
?/? c.803+17G>A r.(=) p.(=) g.149847771C>T Copied from the Exome Variant Server PPIL4_000045 94/13002 1/8598 93/4404 - - - - - - -
?/? c.803+26A>G r.(=) p.(=) g.149847762T>C Copied from the Exome Variant Server PPIL4_000043 3/13002 0/8598 3/4404 - - - - - - -
?/? c.803+45A>G r.(=) p.(=) g.149847743T>C Copied from the Exome Variant Server PPIL4_000041 1/13000 1/8596 0/4404 - - - - - - -
?/? c.804-42_804-41insC r.(=) p.(=) g.149846386_149846387insG Copied from the Exome Variant Server PPIL4_000038 20/12442 2/8212 18/4230 - - - - - - -
?/? c.804-28del r.(=) p.(=) g.149846373del Copied from the Exome Variant Server PPIL4_000036 2439/12398 1696/8200 743/4198 - - - - - - -
?/? c.804-28dup r.(=) p.(=) g.149846373dup Copied from the Exome Variant Server PPIL4_000035 625/12398 325/8200 300/4198 - - - - - - -
?/? c.804-18T>G r.(=) p.(=) g.149846363A>C Copied from the Exome Variant Server PPIL4_000033 2/12980 2/8576 0/4404 - - - - - - -
?/? c.843C>G r.(=) p.(=) g.149846306G>C Copied from the Exome Variant Server PPIL4_000032 92/12998 91/8592 1/4406 - - - - - - -
?/? c.848_849insA r.(?) p.(Tyr283*) g.149846300_149846301insT Copied from the Exome Variant Server PPIL4_000031 1/12508 1/8244 0/4264 - - - - - - -
?/? c.871-32A>T r.(=) p.(=) g.149842339T>A Copied from the Exome Variant Server PPIL4_000030 1/12998 0/8592 1/4406 - - - - - - -
?/? c.871-8A>G r.(=) p.(=) g.149842315T>C Copied from the Exome Variant Server PPIL4_000029 33/13002 2/8596 31/4406 - - - - - - -
?/? c.938T>C r.(?) p.(Val313Ala) g.149842240A>G Copied from the Exome Variant Server PPIL4_000028 1/13002 1/8598 0/4404 - - - - - - -
?/? c.968A>G r.(?) p.(Lys323Arg) g.149842210T>C Copied from the Exome Variant Server PPIL4_000027 1/13002 0/8598 1/4404 - - - - - - -
?/? c.982+50G>C r.(=) p.(=) g.149842146C>G Copied from the Exome Variant Server PPIL4_000026 1/12998 0/8594 1/4404 - - - - - - -
?/? c.983-34_983-33insT r.(=) p.(=) g.149838619_149838620insA Copied from the Exome Variant Server PPIL4_000025 12/12446 3/8204 9/4242 - - - - - - -
?/? c.1080-40A>G r.(=) p.(=) g.149833478T>C Copied from the Exome Variant Server PPIL4_000024 25/13006 0/8600 25/4406 - - - - - - -
?/? c.1080-32_1080-29del r.(=) p.(=) g.149833467_149833470del Copied from the Exome Variant Server PPIL4_000023 1/12516 1/8254 0/4262 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.149833429G>A Copied from the Exome Variant Server PPIL4_000022 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1094T>C r.(?) p.(Leu365Pro) g.149833424A>G Copied from the Exome Variant Server PPIL4_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1096_1101del r.(?) p.(Ile366_Leu367del) g.149833417_149833422del Copied from the Exome Variant Server PPIL4_000020 8/12518 8/8254 0/4264 - - - - - - -
?/? c.1113C>T r.(=) p.(=) g.149833405G>A Copied from the Exome Variant Server PPIL4_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1127C>T r.(?) p.(Ser376Leu) g.149833391G>A Copied from the Exome Variant Server PPIL4_000018 105/13006 3/8600 102/4406 - - - - - - -
?/? c.1139A>G r.(?) p.(His380Arg) g.149833379T>C Copied from the Exome Variant Server PPIL4_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1164A>G r.(=) p.(=) g.149833354T>C Copied from the Exome Variant Server PPIL4_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1167C>G r.(=) p.(=) g.149833351G>C Copied from the Exome Variant Server PPIL4_000015 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1197G>A r.(=) p.(=) g.149833321C>T Copied from the Exome Variant Server PPIL4_000014 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1200C>T r.(=) p.(=) g.149833318G>A Copied from the Exome Variant Server PPIL4_000013 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1227+25T>C r.(=) p.(=) g.149833266A>G Copied from the Exome Variant Server PPIL4_000012 190/13006 3/8600 187/4406 - - - - - - -
?/? c.1227+37A>C r.(=) p.(=) g.149833254T>G Copied from the Exome Variant Server PPIL4_000011 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1227+48C>T r.(=) p.(=) g.149833243G>A Copied from the Exome Variant Server PPIL4_000010 56/13004 52/8600 4/4404 - - - - - - -
?/? c.1228-4A>G r.spl? p.? g.149826844T>C Copied from the Exome Variant Server PPIL4_000009 30/13006 24/8600 6/4406 - - - - - - -
?/? c.1259A>T r.(?) p.(Tyr420Phe) g.149826809T>A Copied from the Exome Variant Server PPIL4_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1297G>T r.(?) p.(Glu433*) g.149826771C>A Copied from the Exome Variant Server PPIL4_000007 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1328G>A r.(?) p.(Arg443His) g.149826740C>T Copied from the Exome Variant Server PPIL4_000006 6/13006 5/8600 1/4406 - - - - - - -
?/? c.1339C>T r.(?) p.(Arg447*) g.149826729G>A Copied from the Exome Variant Server PPIL4_000005 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1340G>A r.(?) p.(Arg447Gln) g.149826728C>T Copied from the Exome Variant Server PPIL4_000004 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1355A>G r.(?) p.(His452Arg) g.149826713T>C Copied from the Exome Variant Server PPIL4_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1446G>T r.(?) p.(Lys482Asn) g.149826622C>A Copied from the Exome Variant Server PPIL4_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*3G>A r.(=) p.(=) g.149826586C>T Copied from the Exome Variant Server PPIL4_000001 2/13006 0/8600 2/4406 - - - - - - -
Legend