Full data view for gene PTGIS

Information The variants shown are described using the NM_000961.3 transcript reference sequence.

135 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-44_-42del r.(=) p.(=) g.48184695_48184697del Copied from the Exome Variant Server PTGIS_000135 217/800 169/634 48/166 - - - - - - -
?/? c.-40_-39insCC r.(=) p.(=) g.48184692_48184693insGG Copied from the Exome Variant Server PTGIS_000134 324/870 265/698 59/172 - - - - - - -
?/? c.49C>T r.(=) p.(=) g.48184605G>A Copied from the Exome Variant Server PTGIS_000133 18/8534 1/5788 17/2746 - - - - - - -
?/? c.74+20C>A r.(=) p.(=) g.48184560G>T Copied from the Exome Variant Server PTGIS_000132 426/8254 348/5630 78/2624 - - - - - - -
?/? c.74+23C>T r.(=) p.(=) g.48184557G>A Copied from the Exome Variant Server PTGIS_000131 73/8176 1/5578 72/2598 - - - - - - -
?/? c.74+5035C>A r.(=) p.(=) g.48179545G>T Copied from the Exome Variant Server PTGIS_000130 36/4566 1/3182 35/1384 - - - - - - -
?/? c.74+5172T>A r.(=) p.(=) g.48179408A>T Copied from the Exome Variant Server PTGIS_000129 21/4566 0/3182 21/1384 - - - - - - -
?/? c.74+6412C>A r.(=) p.(=) g.48178168G>T Copied from the Exome Variant Server PTGIS_000128 1/4566 1/3182 0/1384 - - - - - - -
?/? c.74+6546G>A r.(=) p.(=) g.48178034C>T Copied from the Exome Variant Server PTGIS_000127 62/4566 1/3182 61/1384 - - - - - - -
?/? c.74+6606C>A r.(=) p.(=) g.48177974G>T Copied from the Exome Variant Server PTGIS_000126 1403/4566 739/3182 664/1384 - - - - - - -
?/? c.75-36C>G r.(=) p.(=) g.48166762G>C Copied from the Exome Variant Server PTGIS_000125 2/13006 0/8600 2/4406 - - - - - - -
?/? c.75-18G>A r.(=) p.(=) g.48166744C>T Copied from the Exome Variant Server PTGIS_000124 563/13006 23/8600 540/4406 - - - - - - -
?/? c.75-15C>T r.(=) p.(=) g.48166741G>A Copied from the Exome Variant Server PTGIS_000123 1/13006 1/8600 0/4406 - - - - - - -
?/? c.76C>A r.(=) p.(=) g.48166725G>T Copied from the Exome Variant Server PTGIS_000122 16/13006 0/8600 16/4406 - - - - - - -
?/? c.77G>A r.(?) p.(Arg26Gln) g.48166724C>T Copied from the Exome Variant Server PTGIS_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.144A>G r.(=) p.(=) g.48166657T>C Copied from the Exome Variant Server PTGIS_000120 1/13006 1/8600 0/4406 - - - - - - -
?/? c.157T>C r.(?) p.(Phe53Leu) g.48166644A>G Copied from the Exome Variant Server PTGIS_000119 1/13006 0/8600 1/4406 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.48166624C>T Copied from the Exome Variant Server PTGIS_000118 1/13006 1/8600 0/4406 - - - - - - -
?/? c.198+20C>T r.(=) p.(=) g.48166583G>A Copied from the Exome Variant Server PTGIS_000117 1/13006 0/8600 1/4406 - - - - - - -
?/? c.199-50C>T r.(=) p.(=) g.48164606G>A Copied from the Exome Variant Server PTGIS_000116 1/13006 1/8600 0/4406 - - - - - - -
?/? c.199-21A>G r.(=) p.(=) g.48164577T>C Copied from the Exome Variant Server PTGIS_000115 5/13006 0/8600 5/4406 - - - - - - -
?/? c.208G>T r.(?) p.(Gly70Trp) g.48164547C>A Copied from the Exome Variant Server PTGIS_000114 1/13006 1/8600 0/4406 - - - - - - -
?/? c.215G>A r.(?) p.(Arg72Lys) g.48164540C>T Copied from the Exome Variant Server PTGIS_000113 1/13006 1/8600 0/4406 - - - - - - -
?/? c.225C>T r.(=) p.(=) g.48164530G>A Copied from the Exome Variant Server PTGIS_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.226G>A r.(?) p.(Val76Ile) g.48164529C>T Copied from the Exome Variant Server PTGIS_000111 1/13006 1/8600 0/4406 - - - - - - -
?/? c.237C>T r.(=) p.(=) g.48164518G>A Copied from the Exome Variant Server PTGIS_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245C>T r.(?) p.(Ser82Phe) g.48164510G>A Copied from the Exome Variant Server PTGIS_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.252C>T r.(=) p.(=) g.48164503G>A Copied from the Exome Variant Server PTGIS_000108 110/13006 71/8600 39/4406 - - - - - - -
?/? c.253G>A r.(?) p.(Ala85Thr) g.48164502C>T Copied from the Exome Variant Server PTGIS_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.258G>T r.(=) p.(=) g.48164497C>A Copied from the Exome Variant Server PTGIS_000106 24/13006 0/8600 24/4406 - - - - - - -
?/? c.271C>T r.(?) p.(Arg91Cys) g.48164484G>A Copied from the Exome Variant Server PTGIS_000105 5/13006 5/8600 0/4406 - - - - - - -
?/? c.272G>A r.(?) p.(Arg91His) g.48164483C>T Copied from the Exome Variant Server PTGIS_000104 2/13006 2/8600 0/4406 - - - - - - -
?/? c.283G>A r.(?) p.(Asp95Asn) g.48164472C>T Copied from the Exome Variant Server PTGIS_000103 3/13006 2/8600 1/4406 - - - - - - -
?/? c.303C>A r.(=) p.(=) g.48164452G>T Copied from the Exome Variant Server PTGIS_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.325G>T r.(?) p.(Asp109Tyr) g.48164430C>A Copied from the Exome Variant Server PTGIS_000101 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354T>A r.(?) p.(Ser118Arg) g.48164401A>T Copied from the Exome Variant Server PTGIS_000100 117/13006 0/8600 117/4406 - - - - - - -
?/? c.377+34del r.(=) p.(=) g.48164344del Copied from the Exome Variant Server PTGIS_000099 1/12518 1/8254 0/4264 - - - - - - -
?/? c.377+43C>T r.(=) p.(=) g.48164335G>A Copied from the Exome Variant Server PTGIS_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.377+44G>A r.(=) p.(=) g.48164334C>T Copied from the Exome Variant Server PTGIS_000097 179/13006 161/8600 18/4406 - - - - - - -
?/? c.411A>C r.(=) p.(=) g.48160952T>G Copied from the Exome Variant Server PTGIS_000096 1/13006 0/8600 1/4406 - - - - - - -
?/? c.429C>T r.(=) p.(=) g.48160934G>A Copied from the Exome Variant Server PTGIS_000095 2/13006 0/8600 2/4406 - - - - - - -
?/? c.451G>A r.(?) p.(Asp151Asn) g.48160912C>T Copied from the Exome Variant Server PTGIS_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.496G>A r.(?) p.(Asp166Asn) g.48160867C>T Copied from the Exome Variant Server PTGIS_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.521+16C>T r.(=) p.(=) g.48160826G>A Copied from the Exome Variant Server PTGIS_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.521+41A>G r.(=) p.(=) g.48160801T>C Copied from the Exome Variant Server PTGIS_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.522-20C>A r.(=) p.(=) g.48156278G>T Copied from the Exome Variant Server PTGIS_000090 1368/13004 33/8600 1335/4404 - - - - - - -
?/? c.522-14_522-11del r.(=) p.(=) g.48156269_48156272del Copied from the Exome Variant Server PTGIS_000089 4/12512 0/8252 4/4260 - - - - - - -
?/? c.522-7C>G r.(=) p.(=) g.48156265G>C Copied from the Exome Variant Server PTGIS_000088 1/13004 0/8598 1/4406 - - - - - - -
?/? c.531C>T r.(=) p.(=) g.48156249G>A Copied from the Exome Variant Server PTGIS_000087 276/13004 259/8600 17/4404 - - - - - - -
?/? c.543C>T r.(=) p.(=) g.48156237G>A Copied from the Exome Variant Server PTGIS_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.544G>A r.(?) p.(Gly182Arg) g.48156236C>T Copied from the Exome Variant Server PTGIS_000085 17/13006 16/8600 1/4406 - - - - - - -
?/? c.562C>T r.(?) p.(Arg188Cys) g.48156218G>A Copied from the Exome Variant Server PTGIS_000084 2/13006 0/8600 2/4406 - - - - - - -
?/? c.589C>T r.(?) p.(Arg197Cys) g.48156191G>A Copied from the Exome Variant Server PTGIS_000083 8/13006 0/8600 8/4406 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.48156189G>A Copied from the Exome Variant Server PTGIS_000082 152/13006 3/8600 149/4406 - - - - - - -
?/? c.623G>A r.(?) p.(Arg208His) g.48156157C>T Copied from the Exome Variant Server PTGIS_000081 7/13006 7/8600 0/4406 - - - - - - -
?/? c.631G>A r.(?) p.(Asp211Asn) g.48156149C>T Copied from the Exome Variant Server PTGIS_000080 13/13006 0/8600 13/4406 - - - - - - -
?/? c.634C>T r.(?) p.(Arg212Trp) g.48156146G>A Copied from the Exome Variant Server PTGIS_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.635G>A r.(?) p.(Arg212Gln) g.48156145C>T Copied from the Exome Variant Server PTGIS_000078 2/13006 1/8600 1/4406 - - - - - - -
?/? c.655C>T r.(?) p.(Arg219Cys) g.48156125G>A Copied from the Exome Variant Server PTGIS_000077 13/13006 0/8600 13/4406 - - - - - - -
?/? c.673+14G>A r.(=) p.(=) g.48156093C>T Copied from the Exome Variant Server PTGIS_000076 7/13004 0/8598 7/4406 - - - - - - -
?/? c.673+28G>C r.(=) p.(=) g.48156079C>G Copied from the Exome Variant Server PTGIS_000075 1/12988 0/8592 1/4396 - - - - - - -
?/? c.673+34_673+35insG r.(=) p.(=) g.48156072_48156073insC Copied from the Exome Variant Server PTGIS_000074 41/12478 17/8230 24/4248 - - - - - - -
?/? c.673+36G>A r.(=) p.(=) g.48156071C>T Copied from the Exome Variant Server PTGIS_000073 4/12996 4/8594 0/4402 - - - - - - -
?/? c.674-5806_674-5805insA r.(=) p.(=) g.48146581_48146582insT Copied from the Exome Variant Server PTGIS_000072 30/5618 22/3692 8/1926 - - - - - - -
?/? c.674-5803del r.(=) p.(=) g.48146579del Copied from the Exome Variant Server PTGIS_000071 29/5586 21/3662 8/1924 - - - - - - -
?/? c.674-24_674-23insA r.(=) p.(=) g.48140799_48140800insT Copied from the Exome Variant Server PTGIS_000070 139/12518 3/8254 136/4264 - - - - - - -
?/? c.674-14C>T r.(=) p.(=) g.48140790G>A Copied from the Exome Variant Server PTGIS_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.685C>G r.(?) p.(His229Asp) g.48140765G>C Copied from the Exome Variant Server PTGIS_000068 4/13006 0/8600 4/4406 - - - - - - -
?/? c.706C>T r.(?) p.(Arg236Cys) g.48140744G>A Copied from the Exome Variant Server PTGIS_000067 126/13006 1/8600 125/4406 - - - - - - -
?/? c.707G>A r.(?) p.(Arg236His) g.48140743C>T Copied from the Exome Variant Server PTGIS_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.719T>A r.(?) p.(Leu240Gln) g.48140731A>T Copied from the Exome Variant Server PTGIS_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.721del r.(?) p.(Leu241Tyrfs*95) g.48140729del Copied from the Exome Variant Server PTGIS_000064 2/12518 0/8254 2/4264 - - - - - - -
?/? c.723A>G r.(=) p.(=) g.48140727T>C Copied from the Exome Variant Server PTGIS_000063 356/13006 6/8600 350/4406 - - - - - - -
?/? c.725C>T r.(?) p.(Ser242Phe) g.48140725G>A Copied from the Exome Variant Server PTGIS_000062 9/13006 9/8600 0/4406 - - - - - - -
?/? c.728_729insC r.(?) p.(Ala244Serfs*61) g.48140721_48140722insG Copied from the Exome Variant Server PTGIS_000061 3/12518 3/8254 0/4264 - - - - - - -
?/? c.735G>T r.(?) p.(Arg245Ser) g.48140715C>A Copied from the Exome Variant Server PTGIS_000060 2/13006 0/8600 2/4406 - - - - - - -
?/? c.746G>T r.(?) p.(Arg249Leu) g.48140704C>A Copied from the Exome Variant Server PTGIS_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.750C>T r.(=) p.(=) g.48140700G>A Copied from the Exome Variant Server PTGIS_000058 4/13006 4/8600 0/4406 - - - - - - -
?/? c.754C>T r.(?) p.(Arg252Trp) g.48140696G>A Copied from the Exome Variant Server PTGIS_000057 27/13006 1/8600 26/4406 - - - - - - -
?/? c.768G>A r.(=) p.(=) g.48140682C>T Copied from the Exome Variant Server PTGIS_000056 1204/13006 525/8600 679/4406 - - - - - - -
?/? c.786C>T r.(=) p.(=) g.48140664G>A Copied from the Exome Variant Server PTGIS_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.823C>T r.(?) p.(Arg275Trp) g.48140627G>A Copied from the Exome Variant Server PTGIS_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.824G>A r.(?) p.(Arg275Gln) g.48140626C>T Copied from the Exome Variant Server PTGIS_000053 13/13006 12/8600 1/4406 - - - - - - -
?/? c.855+5G>C r.spl? p.? g.48140590C>G Copied from the Exome Variant Server PTGIS_000052 1/13006 1/8600 0/4406 - - - - - - -
?/? c.855+13G>A r.(=) p.(=) g.48140582C>T Copied from the Exome Variant Server PTGIS_000051 13/13006 0/8600 13/4406 - - - - - - -
?/? c.855+50C>T r.(=) p.(=) g.48140545G>A Copied from the Exome Variant Server PTGIS_000050 6/13006 1/8600 5/4406 - - - - - - -
?/? c.855+51G>A r.(=) p.(=) g.48140544C>T Copied from the Exome Variant Server PTGIS_000049 5/13006 5/8600 0/4406 - - - - - - -
?/? c.856-3292G>A r.(=) p.(=) g.48134224C>T Copied from the Exome Variant Server PTGIS_000048 1/4566 0/3182 1/1384 - - - - - - -
?/? c.856-3248del r.(=) p.(=) g.48134180del Copied from the Exome Variant Server PTGIS_000047 1/7410 0/4778 1/2632 - - - - - - -
?/? c.856-1864G>A r.(=) p.(=) g.48132796C>T Copied from the Exome Variant Server PTGIS_000046 3/4566 0/3182 3/1384 - - - - - - -
?/? c.856-1824C>T r.(=) p.(=) g.48132756G>A Copied from the Exome Variant Server PTGIS_000045 2/4566 1/3182 1/1384 - - - - - - -
?/? c.856-50G>A r.(=) p.(=) g.48130982C>T Copied from the Exome Variant Server PTGIS_000044 2775/12998 2208/8594 567/4404 - - - - - - -
?/? c.856-44G>T r.(=) p.(=) g.48130976C>A Copied from the Exome Variant Server PTGIS_000043 1/12998 1/8596 0/4402 - - - - - - -
?/? c.862A>G r.(?) p.(Met288Val) g.48130926T>C Copied from the Exome Variant Server PTGIS_000042 2/13004 2/8598 0/4406 - - - - - - -
?/? c.894C>T r.(=) p.(=) g.48130894G>A Copied from the Exome Variant Server PTGIS_000041 17/13006 0/8600 17/4406 - - - - - - -
?/? c.914C>T r.(?) p.(Ala305Val) g.48130874G>A Copied from the Exome Variant Server PTGIS_000040 6/13006 6/8600 0/4406 - - - - - - -
?/? c.929G>T r.(?) p.(Arg310Leu) g.48130859C>A Copied from the Exome Variant Server PTGIS_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.932G>A r.(?) p.(Gly311Glu) g.48130856C>T Copied from the Exome Variant Server PTGIS_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.980C>T r.(?) p.(Thr327Met) g.48130808G>A Copied from the Exome Variant Server PTGIS_000037 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1024+9G>A r.(=) p.(=) g.48130755C>T Copied from the Exome Variant Server PTGIS_000036 1/13006 0/8600 1/4406 - - - - - - -
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