Full data view for gene PLAU

Information The variants shown are described using the NM_002658.3 transcript reference sequence.

94 entries on 1 page. Showing entries 1 - 94.
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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.-31-40G>A r.(=) p.(=) g.75671243G>A Copied from the Exome Variant Server C10orf55_000001 14/4566 12/3182 2/1384 - - - - - - -
?/? c.-25C>T r.(=) p.(=) g.75671289C>T Copied from the Exome Variant Server C10orf55_000002 102/13004 94/8600 8/4404 - - - - - - -
?/? c.-20A>G r.(=) p.(=) g.75671294A>G Copied from the Exome Variant Server C10orf55_000003 35/13004 33/8600 2/4404 - - - - - - -
?/? c.-18C>A r.(=) p.(=) g.75671296C>A Copied from the Exome Variant Server C10orf55_000004 111/13004 0/8600 111/4404 - - - - - - -
?/? c.17C>A r.(?) p.(Ala6Glu) g.75671330C>A Copied from the Exome Variant Server C10orf55_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.43G>T r.(?) p.(Val15Leu) g.75671356G>T Copied from the Exome Variant Server C10orf55_000006 101/13006 99/8600 2/4406 - - - - - - -
?/? c.57+28C>A r.(=) p.(=) g.75671398C>A Copied from the Exome Variant Server C10orf55_000007 347/13006 3/8600 344/4406 - - - - - - -
?/? c.57+65del r.(=) p.(=) g.75671435del Copied from the Exome Variant Server C10orf55_000008 9/12510 5/8252 4/4258 - - - - - - -
?/? c.57+111G>A r.(?) p.(Pro140Ser) g.75671481G>A Copied from the Exome Variant Server C10orf55_000009 9/7268 0/4616 9/2652 - - - - - - -
?/? c.57+201C>T r.(?) p.(Gly110Ser) g.75671571C>T Copied from the Exome Variant Server C10orf55_000010 56/6954 0/4492 56/2462 - - - - - - -
?/? c.58-141C>A r.(?) p.(Glu81*) g.75671658C>A Copied from the Exome Variant Server C10orf55_000011 2/7272 0/4618 2/2654 - - - - - - -
?/? c.58-123C>G r.(?) p.(Val75Leu) g.75671676C>G Copied from the Exome Variant Server C10orf55_000012 1/7272 0/4618 1/2654 - - - - - - -
?/? c.58-114T>C r.(?) p.(Thr72Ala) g.75671685T>C Copied from the Exome Variant Server C10orf55_000013 1/7272 1/4618 0/2654 - - - - - - -
?/? c.58-96G>A r.(?) p.(Pro66Ser) g.75671703G>A Copied from the Exome Variant Server C10orf55_000014 38/7272 2/4618 36/2654 - - - - - - -
?/? c.58-78T>C r.(?) p.(Ile60Val) g.75671721T>C Copied from the Exome Variant Server C10orf55_000015 1/7272 0/4618 1/2654 - - - - - - -
?/? c.58-71C>G r.(=) p.(=) g.75671728C>G Copied from the Exome Variant Server C10orf55_000016 1/7272 0/4618 1/2654 - - - - - - -
?/? c.58-22_58-20del r.(?) p.(Gly41del) g.75671777_75671779del Copied from the Exome Variant Server C10orf55_000017 1/12518 1/8254 0/4264 - - - - - - -
?/? c.58-14C>T r.(=) p.(=) g.75671785C>T Copied from the Exome Variant Server C10orf55_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.58-13G>A r.(?) p.(Ser38Leu) g.75671786G>A Copied from the Exome Variant Server C10orf55_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.85+40G>A r.(=) p.(=) g.75671866G>A Copied from the Exome Variant Server C10orf55_000020 29/13006 0/8600 29/4406 - - - - - - -
?/? c.85+49G>A r.(=) p.(=) g.75671875G>A Copied from the Exome Variant Server C10orf55_000021 845/13006 759/8600 86/4406 - - - - - - -
?/? c.86-56C>T r.(=) p.(=) g.75671917C>T Copied from the Exome Variant Server C10orf55_000022 8/4566 0/3182 8/1384 - - - - - - -
?/? c.86-21C>A r.(=) p.(=) g.75671952C>A Copied from the Exome Variant Server C10orf55_000023 3/13006 0/8600 3/4406 - - - - - - -
?/? c.86C>T r.(?) p.(Ser29Leu) g.75671973C>T Copied from the Exome Variant Server C10orf55_000024 1/13006 1/8600 0/4406 - - - - - - -
?/? c.131A>G r.(?) p.(Tyr44Cys) g.75672018A>G Copied from the Exome Variant Server C10orf55_000025 1/13006 1/8600 0/4406 - - - - - - -
?/? c.162A>G r.(=) p.(=) g.75672049A>G Copied from the Exome Variant Server C10orf55_000026 25/13006 21/8600 4/4406 - - - - - - -
?/? c.163A>G r.(?) p.(Lys55Glu) g.75672050A>G Copied from the Exome Variant Server C10orf55_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.171C>T r.(=) p.(=) g.75672058C>T Copied from the Exome Variant Server C10orf55_000028 1/13006 0/8600 1/4406 - - - - - - -
?/? c.172G>A r.(?) p.(Gly58Arg) g.75672059G>A Copied from the Exome Variant Server C10orf55_000029 84/13006 77/8600 7/4406 - - - - - - -
?/? c.194-46T>C r.(=) p.(=) g.75672636T>C Copied from the Exome Variant Server C10orf55_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.194-34_194-33del r.(=) p.(=) g.75672648_75672649del Copied from the Exome Variant Server C10orf55_000031 3/12518 3/8254 0/4264 - - - - - - -
?/? c.194-7C>G r.(=) p.(=) g.75672675C>G Copied from the Exome Variant Server C10orf55_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.236G>A r.(?) p.(Arg79Gln) g.75672724G>A Copied from the Exome Variant Server C10orf55_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.266G>T r.(?) p.(Arg89Leu) g.75672754G>T Copied from the Exome Variant Server C10orf55_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.304C>G r.(?) p.(Gln102Glu) g.75672792C>G Copied from the Exome Variant Server C10orf55_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.308C>T r.(?) p.(Thr103Met) g.75672796C>T Copied from the Exome Variant Server C10orf55_000036 2/13006 1/8600 1/4406 - - - - - - -
?/? c.332C>G r.(?) p.(Ala111Gly) g.75672820C>G Copied from the Exome Variant Server C10orf55_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.351G>A r.(=) p.(=) g.75672839G>A Copied from the Exome Variant Server C10orf55_000038 7/13006 7/8600 0/4406 - - - - - - -
?/? c.369-36G>A r.(=) p.(=) g.75673012G>A Copied from the Exome Variant Server C10orf55_000039 2/13006 0/8600 2/4406 - - - - - - -
?/? c.369-20C>T r.(=) p.(=) g.75673028C>T Copied from the Exome Variant Server C10orf55_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.383G>A r.(?) p.(Arg128Gln) g.75673062G>A Copied from the Exome Variant Server C10orf55_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.388C>T r.(?) p.(Arg130*) g.75673067C>T Copied from the Exome Variant Server C10orf55_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.411G>A r.(=) p.(=) g.75673090G>A Copied from the Exome Variant Server C10orf55_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.422T>C N/A N/A g.75673101T>C Copied from the Exome Variant Server C10orf55_000044 10908/13006 6699/8600 4209/4406 - - - - - - -
?/? c.445C>T r.(?) p.(His149Tyr) g.75673124C>T Copied from the Exome Variant Server C10orf55_000045 9/13006 9/8600 0/4406 - - - - - - -
?/? c.453C>T r.(=) p.(=) g.75673132C>T Copied from the Exome Variant Server C10orf55_000046 1/13006 1/8600 0/4406 - - - - - - -
?/? c.461-23A>G r.(=) p.(=) g.75673274A>G Copied from the Exome Variant Server C10orf55_000047 3/13006 0/8600 3/4406 - - - - - - -
?/? c.538A>T r.(?) p.(Ile180Phe) g.75673374A>T Copied from the Exome Variant Server C10orf55_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.601C>T r.(?) p.(Arg201Trp) g.75673437C>T Copied from the Exome Variant Server C10orf55_000049 4/13006 3/8600 1/4406 - - - - - - -
?/? c.602del r.(?) p.(Gly203Alafs*17) g.75673438del Copied from the Exome Variant Server C10orf55_000050 44/12516 27/8254 17/4262 - - - - - - -
?/? c.661A>T r.(?) p.(Ser221Cys) g.75673497A>T Copied from the Exome Variant Server C10orf55_000051 1/13004 1/8598 0/4406 - - - - - - -
?/? c.663C>T r.(=) p.(=) g.75673499C>T Copied from the Exome Variant Server C10orf55_000052 1/13004 0/8598 1/4406 - - - - - - -
?/? c.664G>A r.(?) p.(Ala222Thr) g.75673500G>A Copied from the Exome Variant Server C10orf55_000053 1/13004 1/8598 0/4406 - - - - - - -
?/? c.680+5G>T r.spl? p.? g.75673521G>T Copied from the Exome Variant Server C10orf55_000054 1/13000 1/8594 0/4406 - - - - - - -
?/? c.680+25C>T r.(=) p.(=) g.75673541C>T Copied from the Exome Variant Server C10orf55_000055 1/13000 1/8594 0/4406 - - - - - - -
?/? c.681-7C>T r.(=) p.(=) g.75673731C>T Copied from the Exome Variant Server C10orf55_000056 7019/13006 4956/8600 2063/4406 - - - - - - -
?/? c.691A>C r.(?) p.(Lys231Gln) g.75673748A>C Copied from the Exome Variant Server C10orf55_000057 664/13006 7/8600 657/4406 - - - - - - -
?/? c.706A>G r.(?) p.(Ile236Val) g.75673763A>G Copied from the Exome Variant Server C10orf55_000058 6/13006 5/8600 1/4406 - - - - - - -
?/? c.733del r.(?) p.(Asn245Thrfs*8) g.75673790del Copied from the Exome Variant Server C10orf55_000059 1/12518 0/8254 1/4264 - - - - - - -
?/? c.743C>T r.(?) p.(Thr248Met) g.75673800C>T Copied from the Exome Variant Server C10orf55_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.744G>A r.(=) p.(=) g.75673801G>A Copied from the Exome Variant Server C10orf55_000061 2/13006 0/8600 2/4406 - - - - - - -
?/? c.785A>C r.(?) p.(His262Pro) g.75673842A>C Copied from the Exome Variant Server C10orf55_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.822C>T r.(=) p.(=) g.75673879C>T Copied from the Exome Variant Server C10orf55_000063 1738/13006 1403/8600 335/4406 - - - - - - -
?/? c.829+12C>A r.(=) p.(=) g.75673898C>A Copied from the Exome Variant Server C10orf55_000064 2/13006 0/8600 2/4406 - - - - - - -
?/? c.829+15C>T r.(=) p.(=) g.75673901C>T Copied from the Exome Variant Server C10orf55_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.830-49C>T r.(=) p.(=) g.75674485C>T Copied from the Exome Variant Server C10orf55_000066 4/13006 2/8600 2/4406 - - - - - - -
?/? c.830-41C>T r.(=) p.(=) g.75674493C>T Copied from the Exome Variant Server C10orf55_000067 3/13006 3/8600 0/4406 - - - - - - -
?/? c.830-22C>T r.(=) p.(=) g.75674512C>T Copied from the Exome Variant Server C10orf55_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.884T>C r.(?) p.(Ile295Thr) g.75674588T>C Copied from the Exome Variant Server C10orf55_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.902C>T r.(?) p.(Pro301Leu) g.75674606C>T Copied from the Exome Variant Server C10orf55_000073 1/13006 0/8600 1/4406 - - - - - - -
?/? c.970+30G>C r.(=) p.(=) g.75674704G>C Copied from the Exome Variant Server C10orf55_000074 2/13006 0/8600 2/4406 - - - - - - -
?/? c.970+47G>C r.(=) p.(=) g.75674721G>C Copied from the Exome Variant Server C10orf55_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.971-23G>A r.(=) p.(=) g.75674986G>A Copied from the Exome Variant Server C10orf55_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.972C>T r.(=) p.(=) g.75675010C>T Copied from the Exome Variant Server C10orf55_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.973G>A r.(?) p.(Asp325Asn) g.75675011G>A Copied from the Exome Variant Server C10orf55_000082 2/13006 0/8600 2/4406 - - - - - - -
?/? c.986C>T r.(?) p.(Pro329Leu) g.75675024C>T Copied from the Exome Variant Server C10orf55_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1007T>C r.(?) p.(Val336Ala) g.75675045T>C Copied from the Exome Variant Server C10orf55_000070 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1047del r.(?) p.(Tyr350Thrfs*39) g.75675085del Copied from the Exome Variant Server C10orf55_000072 1/12516 0/8254 1/4262 - - - - - - -
?/? c.1048T>C r.(?) p.(Tyr350His) g.75675086T>C Copied from the Exome Variant Server C10orf55_000075 54/13006 50/8600 4/4406 - - - - - - -
?/? c.1062A>C r.(?) p.(Glu354Asp) g.75675100A>C Copied from the Exome Variant Server C10orf55_000077 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1092C>T r.(=) p.(=) g.75675130C>T Copied from the Exome Variant Server C10orf55_000079 50/13006 0/8600 50/4406 - - - - - - -
?/? c.1119+30C>T r.(=) p.(=) g.75675187C>T Copied from the Exome Variant Server C10orf55_000081 34/13006 0/8600 34/4406 - - - - - - -
?/? c.1119+32T>C r.(=) p.(=) g.75675189T>C Copied from the Exome Variant Server C10orf55_000083 14/13006 0/8600 14/4406 - - - - - - -
?/? c.1120-32A>G r.(=) p.(=) g.75676115A>G Copied from the Exome Variant Server C10orf55_000084 1/13004 0/8600 1/4404 - - - - - - -
?/? c.1120-10G>A r.(=) p.(=) g.75676137G>A Copied from the Exome Variant Server C10orf55_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1120-8C>T r.(=) p.(=) g.75676139C>T Copied from the Exome Variant Server C10orf55_000086 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1130G>A r.(?) p.(Gly377Glu) g.75676157G>A Copied from the Exome Variant Server C10orf55_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1141G>C r.(?) p.(Val381Leu) g.75676168G>C Copied from the Exome Variant Server C10orf55_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1152C>T r.(=) p.(=) g.75676179C>T Copied from the Exome Variant Server C10orf55_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1159C>T r.(?) p.(Arg387Cys) g.75676186C>T Copied from the Exome Variant Server C10orf55_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1234G>A r.(?) p.(Val412Ile) g.75676261G>A Copied from the Exome Variant Server C10orf55_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1259G>A r.(?) p.(Arg420His) g.75676286G>A Copied from the Exome Variant Server C10orf55_000092 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1285C>T r.(=) p.(=) g.75676312C>T Copied from the Exome Variant Server C10orf55_000093 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*20G>A r.(=) p.(=) g.75676343G>A Copied from the Exome Variant Server C10orf55_000094 1/13006 0/8600 1/4406 - - - - - - -
Legend