Full data view for gene PASD1

Information The variants shown are described using the NM_173493.2 transcript reference sequence.

144 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.-15G>A r.(=) p.(=) g.150770011G>A Copied from the Exome Variant Server PASD1_000144 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-5A>G r.(=) p.(=) g.150770021A>G Copied from the Exome Variant Server PASD1_000141 1/10563 0/6728 1/3835 - - - - - - -
?/? c.28+15C>T r.(=) p.(=) g.150770068C>T Copied from the Exome Variant Server PASD1_000142 5/10563 5/6728 0/3835 - - - - - - -
?/? c.28+48G>A r.(=) p.(=) g.150770101G>A Copied from the Exome Variant Server PASD1_000143 1/10563 1/6728 0/3835 - - - - - - -
?/? c.28+61G>A r.(=) p.(=) g.150770114G>A Copied from the Exome Variant Server PASD1_000138 5/3600 4/2391 1/1209 - - - - - - -
?/? c.28+88C>A r.(=) p.(=) g.150770141C>A Copied from the Exome Variant Server PASD1_000139 23/3600 1/2391 22/1209 - - - - - - -
?/? c.29-35A>G r.(=) p.(=) g.150773083A>G Copied from the Exome Variant Server PASD1_000140 1/10554 1/6720 0/3834 - - - - - - -
?/? c.30C>T r.(=) p.(=) g.150773119C>T Copied from the Exome Variant Server PASD1_000129 1/10561 1/6728 0/3833 - - - - - - -
?/? c.34G>C r.(?) p.(Val12Leu) g.150773123G>C Copied from the Exome Variant Server PASD1_000130 1/10561 1/6728 0/3833 - - - - - - -
?/? c.39T>A r.(?) p.(Asn13Lys) g.150773128T>A Copied from the Exome Variant Server PASD1_000131 62/10561 1/6728 61/3833 - - - - - - -
?/? c.56G>A r.(?) p.(Arg19Lys) g.150773145G>A Copied from the Exome Variant Server PASD1_000132 1/10563 1/6728 0/3835 - - - - - - -
?/? c.89A>G r.(?) p.(Tyr30Cys) g.150773178A>G Copied from the Exome Variant Server PASD1_000133 1/10563 0/6728 1/3835 - - - - - - -
?/? c.110C>T r.(?) p.(Thr37Met) g.150773199C>T Copied from the Exome Variant Server PASD1_000134 1/10563 0/6728 1/3835 - - - - - - -
?/? c.111G>A r.(=) p.(=) g.150773200G>A Copied from the Exome Variant Server PASD1_000135 1/10563 1/6728 0/3835 - - - - - - -
?/? c.118-45T>C r.(=) p.(=) g.150780091T>C Copied from the Exome Variant Server PASD1_000136 1/10562 1/6727 0/3835 - - - - - - -
?/? c.118-41T>C r.(=) p.(=) g.150780095T>C Copied from the Exome Variant Server PASD1_000137 248/10563 3/6728 245/3835 - - - - - - -
?/? c.118-23C>T r.(=) p.(=) g.150780113C>T Copied from the Exome Variant Server PASD1_000125 2/10562 2/6727 0/3835 - - - - - - -
?/? c.180C>T r.(=) p.(=) g.150780198C>T Copied from the Exome Variant Server PASD1_000126 2/10563 1/6728 1/3835 - - - - - - -
?/? c.208-49C>A r.(=) p.(=) g.150789353C>A Copied from the Exome Variant Server PASD1_000100 11/10560 11/6726 0/3834 - - - - - - -
?/? c.208-22T>A r.(=) p.(=) g.150789380T>A Copied from the Exome Variant Server PASD1_000101 1/10563 1/6728 0/3835 - - - - - - -
?/? c.208-7C>T r.(=) p.(=) g.150789395C>T Copied from the Exome Variant Server PASD1_000075 23/10563 0/6728 23/3835 - - - - - - -
?/? c.304T>G r.(?) p.(Ser102Ala) g.150789498T>G Copied from the Exome Variant Server PASD1_000076 2/10562 2/6727 0/3835 - - - - - - -
?/? c.307+30T>C r.(=) p.(=) g.150789531T>C Copied from the Exome Variant Server PASD1_000051 74/10529 69/6713 5/3816 - - - - - - -
?/? c.308-51A>G r.(=) p.(=) g.150789903A>G Copied from the Exome Variant Server PASD1_000052 1/10530 0/6706 1/3824 - - - - - - -
?/? c.308-4C>T r.spl? p.? g.150789950C>T Copied from the Exome Variant Server PASD1_000053 7510/10556 6210/6723 1300/3833 - - - - - - -
?/? c.310A>G r.(?) p.(Thr104Ala) g.150789956A>G Copied from the Exome Variant Server PASD1_000054 2/10556 2/6723 0/3833 - - - - - - -
?/? c.356A>G r.(?) p.(His119Arg) g.150790002A>G Copied from the Exome Variant Server PASD1_000055 2/10562 2/6727 0/3835 - - - - - - -
?/? c.397A>C r.(?) p.(Asn133His) g.150790043A>C Copied from the Exome Variant Server PASD1_000056 1/10561 1/6726 0/3835 - - - - - - -
?/? c.418+50C>G r.(=) p.(=) g.150790114C>G Copied from the Exome Variant Server PASD1_000057 12/10549 0/6717 12/3832 - - - - - - -
?/? c.419-11A>G r.(=) p.(=) g.150791398A>G Copied from the Exome Variant Server PASD1_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.513A>G r.(=) p.(=) g.150791503A>G Copied from the Exome Variant Server PASD1_000059 1524/10563 1129/6728 395/3835 - - - - - - -
?/? c.522C>T r.(=) p.(=) g.150791512C>T Copied from the Exome Variant Server PASD1_000060 1408/10563 1027/6728 381/3835 - - - - - - -
?/? c.536A>G r.(?) p.(Gln179Arg) g.150791526A>G Copied from the Exome Variant Server PASD1_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.546+5G>T r.spl? p.? g.150791541G>T Copied from the Exome Variant Server PASD1_000062 3/10563 2/6728 1/3835 - - - - - - -
?/? c.546+28C>T r.(=) p.(=) g.150791564C>T Copied from the Exome Variant Server PASD1_000063 4/10563 1/6728 3/3835 - - - - - - -
?/? c.546+49C>G r.(=) p.(=) g.150791585C>G Copied from the Exome Variant Server PASD1_000064 1/10563 0/6728 1/3835 - - - - - - -
?/? c.547-20A>G r.(=) p.(=) g.150793900A>G Copied from the Exome Variant Server PASD1_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.547-18A>G r.(=) p.(=) g.150793902A>G Copied from the Exome Variant Server PASD1_000066 1/10563 1/6728 0/3835 - - - - - - -
?/? c.560C>T r.(?) p.(Ser187Leu) g.150793933C>T Copied from the Exome Variant Server PASD1_000067 4/10563 0/6728 4/3835 - - - - - - -
?/? c.606G>A r.(=) p.(=) g.150793979G>A Copied from the Exome Variant Server PASD1_000068 143/10563 131/6728 12/3835 - - - - - - -
?/? c.610C>T r.(?) p.(Pro204Ser) g.150793983C>T Copied from the Exome Variant Server PASD1_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.620G>T r.(?) p.(Gly207Val) g.150793993G>T Copied from the Exome Variant Server PASD1_000070 1/10563 1/6728 0/3835 - - - - - - -
?/? c.629+13A>G r.(=) p.(=) g.150794015A>G Copied from the Exome Variant Server PASD1_000071 1/10563 0/6728 1/3835 - - - - - - -
?/? c.629+14T>C r.(=) p.(=) g.150794016T>C Copied from the Exome Variant Server PASD1_000072 1/10563 1/6728 0/3835 - - - - - - -
?/? c.629+26A>G r.(=) p.(=) g.150794028A>G Copied from the Exome Variant Server PASD1_000073 1/10563 1/6728 0/3835 - - - - - - -
?/? c.629+34C>G r.(=) p.(=) g.150794036C>G Copied from the Exome Variant Server PASD1_000074 1/10563 1/6728 0/3835 - - - - - - -
?/? c.629+44A>G r.(=) p.(=) g.150794046A>G Copied from the Exome Variant Server PASD1_000077 1/10563 1/6728 0/3835 - - - - - - -
?/? c.629+55C>T r.(=) p.(=) g.150794057C>T Copied from the Exome Variant Server PASD1_000078 9/3600 8/2391 1/1209 - - - - - - -
?/? c.630-44G>T r.(=) p.(=) g.150817043G>T Copied from the Exome Variant Server PASD1_000079 1/10563 1/6728 0/3835 - - - - - - -
?/? c.630-29T>A r.(=) p.(=) g.150817058T>A Copied from the Exome Variant Server PASD1_000080 1/10563 1/6728 0/3835 - - - - - - -
?/? c.630-4A>G r.spl? p.? g.150817083A>G Copied from the Exome Variant Server PASD1_000081 3/10563 2/6728 1/3835 - - - - - - -
?/? c.637C>G r.(?) p.(Gln213Glu) g.150817094C>G Copied from the Exome Variant Server PASD1_000082 2020/10563 1861/6728 159/3835 - - - - - - -
?/? c.644A>G r.(?) p.(Gln215Arg) g.150817101A>G Copied from the Exome Variant Server PASD1_000083 34/10563 31/6728 3/3835 - - - - - - -
?/? c.659G>A r.(?) p.(Ser220Asn) g.150817116G>A Copied from the Exome Variant Server PASD1_000084 1/10563 1/6728 0/3835 - - - - - - -
?/? c.684C>T r.(=) p.(=) g.150817141C>T Copied from the Exome Variant Server PASD1_000085 8/10562 8/6727 0/3835 - - - - - - -
?/? c.698C>T r.(?) p.(Ala233Val) g.150817155C>T Copied from the Exome Variant Server PASD1_000086 1/10562 1/6727 0/3835 - - - - - - -
?/? c.713C>T r.(?) p.(Ser238Leu) g.150817170C>T Copied from the Exome Variant Server PASD1_000087 5/10563 4/6728 1/3835 - - - - - - -
?/? c.717+6T>C r.(=) p.(=) g.150817180T>C Copied from the Exome Variant Server PASD1_000088 2/10563 0/6728 2/3835 - - - - - - -
?/? c.717+19A>G r.(=) p.(=) g.150817193A>G Copied from the Exome Variant Server PASD1_000089 2/10563 2/6728 0/3835 - - - - - - -
?/? c.717+46G>A r.(=) p.(=) g.150817220G>A Copied from the Exome Variant Server PASD1_000090 595/10559 366/6724 229/3835 - - - - - - -
?/? c.765C>T r.(=) p.(=) g.150828232C>T Copied from the Exome Variant Server PASD1_000091 2/10563 2/6728 0/3835 - - - - - - -
?/? c.772A>G r.(?) p.(Met258Val) g.150828239A>G Copied from the Exome Variant Server PASD1_000092 40/10563 1/6728 39/3835 - - - - - - -
?/? c.841+22G>T r.(=) p.(=) g.150828330G>T Copied from the Exome Variant Server PASD1_000093 1/10563 1/6728 0/3835 - - - - - - -
?/? c.841+43A>G r.(=) p.(=) g.150828351A>G Copied from the Exome Variant Server PASD1_000094 3/10563 3/6728 0/3835 - - - - - - -
?/? c.842-7_842-6insC r.(=) p.(=) g.150832584_150832585insC Copied from the Exome Variant Server PASD1_000095 1/10205 1/6484 0/3721 - - - - - - -
?/? c.877G>A r.(?) p.(Val293Met) g.150832626G>A Copied from the Exome Variant Server PASD1_000096 57/10563 0/6728 57/3835 - - - - - - -
?/? c.887T>C r.(?) p.(Leu296Ser) g.150832636T>C Copied from the Exome Variant Server PASD1_000097 1/10563 0/6728 1/3835 - - - - - - -
?/? c.915G>A r.(=) p.(=) g.150832664G>A Copied from the Exome Variant Server PASD1_000098 106/10563 96/6728 10/3835 - - - - - - -
?/? c.918C>T r.(=) p.(=) g.150832667C>T Copied from the Exome Variant Server PASD1_000099 1/10563 0/6728 1/3835 - - - - - - -
?/? c.954_971del r.(?) p.(Met320_Pro325del) g.150832703_150832720del Copied from the Exome Variant Server PASD1_000102 65/10205 48/6484 17/3721 - - - - - - -
?/? c.957A>G r.(=) p.(=) g.150832706A>G Copied from the Exome Variant Server PASD1_000103 1/10563 0/6728 1/3835 - - - - - - -
?/? c.983C>A r.(?) p.(Pro328Gln) g.150832732C>A Copied from the Exome Variant Server PASD1_000104 4/10563 0/6728 4/3835 - - - - - - -
?/? c.993G>A r.(=) p.(=) g.150832742G>A Copied from the Exome Variant Server PASD1_000105 257/10563 2/6728 255/3835 - - - - - - -
?/? c.1013_1021del r.(?) p.(Val341_Pro343del) g.150832762_150832770del Copied from the Exome Variant Server PASD1_000026 2/10205 1/6484 1/3721 - - - - - - -
?/? c.1071+23C>G r.(=) p.(=) g.150832843C>G Copied from the Exome Variant Server PASD1_000027 1/10559 1/6727 0/3832 - - - - - - -
?/? c.1072-51_1072-50del r.(=) p.(=) g.150839459_150839460del Copied from the Exome Variant Server PASD1_000028 1/10205 1/6484 0/3721 - - - - - - -
?/? c.1074A>G r.(=) p.(=) g.150839512A>G Copied from the Exome Variant Server PASD1_000001 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1156G>A r.(?) p.(Glu386Lys) g.150839594G>A Copied from the Exome Variant Server PASD1_000002 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1161G>C r.(?) p.(Arg387Ser) g.150839599G>C Copied from the Exome Variant Server PASD1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1163C>T r.(?) p.(Thr388Ile) g.150839601C>T Copied from the Exome Variant Server PASD1_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1202C>A r.(?) p.(Ala401Glu) g.150839640C>A Copied from the Exome Variant Server PASD1_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1211_1213del r.(?) p.(Met406del) g.150839649_150839651del Copied from the Exome Variant Server PASD1_000006 1/10199 0/6480 1/3719 - - - - - - -
?/? c.1224C>T r.(=) p.(=) g.150839662C>T Copied from the Exome Variant Server PASD1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1230+16A>G r.(=) p.(=) g.150839684A>G Copied from the Exome Variant Server PASD1_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1230+48T>C r.(=) p.(=) g.150839716T>C Copied from the Exome Variant Server PASD1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1231-14C>T r.(=) p.(=) g.150840031C>T Copied from the Exome Variant Server PASD1_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1249C>T r.(?) p.(Arg417Cys) g.150840063C>T Copied from the Exome Variant Server PASD1_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1275A>G r.(=) p.(=) g.150840089A>G Copied from the Exome Variant Server PASD1_000012 2/10563 2/6728 0/3835 - - - - - - -
?/? c.1314C>T r.(=) p.(=) g.150840128C>T Copied from the Exome Variant Server PASD1_000013 3/10563 0/6728 3/3835 - - - - - - -
?/? c.1315G>A r.(?) p.(Ala439Thr) g.150840129G>A Copied from the Exome Variant Server PASD1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1331G>A r.(?) p.(Arg444Gln) g.150840145G>A Copied from the Exome Variant Server PASD1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1354G>A r.(?) p.(Val452Ile) g.150840168G>A Copied from the Exome Variant Server PASD1_000016 8/10563 0/6728 8/3835 - - - - - - -
?/? c.1371T>C r.(=) p.(=) g.150840185T>C Copied from the Exome Variant Server PASD1_000017 1900/10563 1495/6728 405/3835 - - - - - - -
?/? c.1417C>T r.(?) p.(Pro473Ser) g.150840231C>T Copied from the Exome Variant Server PASD1_000018 2/10563 1/6728 1/3835 - - - - - - -
?/? c.1425T>G r.(=) p.(=) g.150840239T>G Copied from the Exome Variant Server PASD1_000019 5/10563 3/6728 2/3835 - - - - - - -
?/? c.1438-8C>T r.(=) p.(=) g.150840647C>T Copied from the Exome Variant Server PASD1_000020 1/8918 1/5591 0/3327 - - - - - - -
?/? c.1470_1490del r.(?) p.(Gln493_Gln499del) g.150840687_150840707del Copied from the Exome Variant Server PASD1_000021 98/8716 71/5470 27/3246 - - - - - - -
?/? c.1473G>T r.(?) p.(Glu491Asp) g.150840690G>T Copied from the Exome Variant Server PASD1_000022 36/9252 1/5851 35/3401 - - - - - - -
?/? c.1478_1492del r.(?) p.(Arg494_Glu498del) g.150840695_150840709del Copied from the Exome Variant Server PASD1_000023 116/8652 87/5466 29/3186 - - - - - - -
?/? c.1479_1499del r.(?) p.(Arg494_Leu500del) g.150840696_150840716del Copied from the Exome Variant Server PASD1_000024 98/8680 71/5486 27/3194 - - - - - - -
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