All transcript variants in gene PLAUR

Information The variants shown are described using the NM_002659.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-36T>G r.(=) p.(=) g.44174308A>C Copied from the Exome Variant Server PLAUR_000084 5/12996 0/8598 5/4398
?/? c.24G>A r.(=) p.(=) g.44174249C>T Copied from the Exome Variant Server PLAUR_000083 94/13006 88/8600 6/4406
?/? c.55+6G>T r.(=) p.(=) g.44174212C>A Copied from the Exome Variant Server PLAUR_000082 35/13006 27/8600 8/4406
?/? c.55+36A>G r.(=) p.(=) g.44174182T>C Copied from the Exome Variant Server PLAUR_000081 4/13006 0/8600 4/4406
?/? c.55+37G>A r.(=) p.(=) g.44174181C>T Copied from the Exome Variant Server PLAUR_000080 3/13006 0/8600 3/4406
?/? c.55+69G>A r.(=) p.(=) g.44174149C>T Copied from the Exome Variant Server PLAUR_000079 30/4566 0/3182 30/1384
?/? c.56-22C>G r.(=) p.(=) g.44171865G>C Copied from the Exome Variant Server PLAUR_000078 1/13006 1/8600 0/4406
?/? c.56-5C>T r.spl? p.? g.44171848G>A Copied from the Exome Variant Server PLAUR_000077 7/13006 5/8600 2/4406
?/? c.67C>T r.(=) p.(=) g.44171832G>A Copied from the Exome Variant Server PLAUR_000076 1/13006 1/8600 0/4406
?/? c.136T>C r.(?) p.(Cys46Arg) g.44171763A>G Copied from the Exome Variant Server PLAUR_000075 1/13006 0/8600 1/4406
?/? c.163G>T r.(?) p.(Glu55*) g.44171736C>A Copied from the Exome Variant Server PLAUR_000074 1/13006 0/8600 1/4406
?/? c.166+14C>T r.(=) p.(=) g.44171719G>A Copied from the Exome Variant Server PLAUR_000073 1/13006 0/8600 1/4406
?/? c.166+18C>A r.(=) p.(=) g.44171715G>T Copied from the Exome Variant Server PLAUR_000072 95/13006 1/8600 94/4406
?/? c.167-26G>A r.(=) p.(=) g.44169637C>T Copied from the Exome Variant Server PLAUR_000071 2/13006 1/8600 1/4406
?/? c.167-17A>C r.(=) p.(=) g.44169628T>G Copied from the Exome Variant Server PLAUR_000070 1/13006 1/8600 0/4406
?/? c.176A>T r.(?) p.(Glu59Val) g.44169602T>A Copied from the Exome Variant Server PLAUR_000069 2/13006 2/8600 0/4406
?/? c.192G>A r.(=) p.(=) g.44169586C>T Copied from the Exome Variant Server PLAUR_000068 9/13006 0/8600 9/4406
?/? c.256A>G r.(?) p.(Thr86Ala) g.44169522T>C Copied from the Exome Variant Server PLAUR_000067 465/13006 4/8600 461/4406
?/? c.261C>A r.(?) p.(Ser87Arg) g.44169517G>T Copied from the Exome Variant Server PLAUR_000066 1/13006 0/8600 1/4406
?/? c.267C>T r.(=) p.(=) g.44169511G>A Copied from the Exome Variant Server PLAUR_000065 1/13006 1/8600 0/4406
?/? c.281G>A r.(?) p.(Gly94Glu) g.44169497C>T Copied from the Exome Variant Server PLAUR_000064 21/13006 17/8600 4/4406
?/? c.303C>T r.(=) p.(=) g.44169475G>A Copied from the Exome Variant Server PLAUR_000063 1/13006 0/8600 1/4406
?/? c.310+3G>A r.spl? p.? g.44169465C>T Copied from the Exome Variant Server PLAUR_000062 239/13006 220/8600 19/4406
?/? c.310+9G>A r.(=) p.(=) g.44169459C>T Copied from the Exome Variant Server PLAUR_000061 1/13006 1/8600 0/4406
?/? c.310+35_310+36insA r.(=) p.(=) g.44169432_44169433insT Copied from the Exome Variant Server PLAUR_000060 1/12518 1/8254 0/4264
?/? c.310+36G>A r.(=) p.(=) g.44169432C>T Copied from the Exome Variant Server PLAUR_000059 1/13006 0/8600 1/4406
?/? c.310+37C>T r.(=) p.(=) g.44169431G>A Copied from the Exome Variant Server PLAUR_000058 48/13006 0/8600 48/4406
?/? c.311-29T>A r.(=) p.(=) g.44160821A>T Copied from the Exome Variant Server PLAUR_000057 78/13006 0/8600 78/4406
?/? c.311-14C>G r.(=) p.(=) g.44160806G>C Copied from the Exome Variant Server PLAUR_000056 4/13006 0/8600 4/4406
?/? c.311-13C>G r.(=) p.(=) g.44160805G>C Copied from the Exome Variant Server PLAUR_000055 2/13006 2/8600 0/4406
?/? c.311-3C>T r.spl? p.? g.44160795G>A Copied from the Exome Variant Server PLAUR_000054 1/13006 1/8600 0/4406
?/? c.313C>T r.(?) p.(Arg105Trp) g.44160790G>A Copied from the Exome Variant Server PLAUR_000053 1/13006 1/8600 0/4406
?/? c.314G>A r.(?) p.(Arg105Gln) g.44160789C>T Copied from the Exome Variant Server PLAUR_000052 15/13006 0/8600 15/4406
?/? c.327T>C r.(=) p.(=) g.44160776A>G Copied from the Exome Variant Server PLAUR_000051 1/13006 0/8600 1/4406
?/? c.367T>A r.(?) p.(Ser123Thr) g.44160736A>T Copied from the Exome Variant Server PLAUR_000050 1/13006 1/8600 0/4406
?/? c.399G>A r.(=) p.(=) g.44160704C>T Copied from the Exome Variant Server PLAUR_000049 1/13006 1/8600 0/4406
?/? c.401G>A r.(?) p.(Ser134Asn) g.44160702C>T Copied from the Exome Variant Server PLAUR_000048 1/13006 1/8600 0/4406
?/? c.412C>T r.(?) p.(Arg138Cys) g.44160691G>A Copied from the Exome Variant Server PLAUR_000047 2/13006 2/8600 0/4406
?/? c.472+17T>C r.(=) p.(=) g.44160614A>G Copied from the Exome Variant Server PLAUR_000046 2/13006 2/8600 0/4406
?/? c.476G>A r.(?) p.(Arg159His) g.44159722C>T Copied from the Exome Variant Server PLAUR_000045 15/13006 14/8600 1/4406
?/? c.478C>T r.(?) p.(Pro160Ser) g.44159720G>A Copied from the Exome Variant Server PLAUR_000044 1/13006 1/8600 0/4406
?/? c.496C>T r.(?) p.(Leu166Phe) g.44159702G>A Copied from the Exome Variant Server PLAUR_000043 2/13006 0/8600 2/4406
?/? c.508G>A r.(?) p.(Gly170Ser) g.44159690C>T Copied from the Exome Variant Server PLAUR_000042 1/13006 1/8600 0/4406
?/? c.527C>T r.(?) p.(Pro176Leu) g.44159671G>A Copied from the Exome Variant Server PLAUR_000041 1/13006 1/8600 0/4406
?/? c.528G>A r.(=) p.(=) g.44159670C>T Copied from the Exome Variant Server PLAUR_000040 1/13006 1/8600 0/4406
?/? c.536A>G r.(?) p.(Asn179Ser) g.44159662T>C Copied from the Exome Variant Server PLAUR_000039 19/13006 0/8600 19/4406
?/? c.607+9C>T r.(=) p.(=) g.44159582G>A Copied from the Exome Variant Server PLAUR_000038 1/13006 0/8600 1/4406
?/? c.607+22C>A r.(=) p.(=) g.44159569G>T Copied from the Exome Variant Server PLAUR_000037 3/13006 0/8600 3/4406
?/? c.607+35C>T r.(=) p.(=) g.44159556G>A Copied from the Exome Variant Server PLAUR_000036 1/13006 1/8600 0/4406
?/? c.607+36G>A r.(=) p.(=) g.44159555C>T Copied from the Exome Variant Server PLAUR_000035 4/13006 1/8600 3/4406
?/? c.608-24C>T r.(=) p.(=) g.44156547G>A Copied from the Exome Variant Server PLAUR_000034 12/13006 12/8600 0/4406
?/? c.608-21T>C r.(=) p.(=) g.44156544A>G Copied from the Exome Variant Server PLAUR_000033 1/13006 1/8600 0/4406
?/? c.608-12T>A r.(=) p.(=) g.44156535A>T Copied from the Exome Variant Server PLAUR_000032 1/13006 1/8600 0/4406
?/? c.608-10T>C r.(=) p.(=) g.44156533A>G Copied from the Exome Variant Server PLAUR_000031 1/13006 1/8600 0/4406
?/? c.611T>C r.(?) p.(Leu204Pro) g.44156520A>G Copied from the Exome Variant Server PLAUR_000030 1/13006 0/8600 1/4406
?/? c.629C>T r.(?) p.(Pro210Leu) g.44156502G>A Copied from the Exome Variant Server PLAUR_000029 7/13006 7/8600 0/4406
?/? c.645G>A r.(=) p.(=) g.44156486C>T Copied from the Exome Variant Server PLAUR_000028 2/13006 0/8600 2/4406
?/? c.659A>G r.(?) p.(Lys220Arg) g.44156472T>C Copied from the Exome Variant Server PLAUR_000027 2302/13006 1432/8600 870/4406
?/? c.670A>G r.(?) p.(Thr224Ala) g.44156461T>C Copied from the Exome Variant Server PLAUR_000026 1/13006 1/8600 0/4406
?/? c.679T>C r.(?) p.(Cys227Arg) g.44156452A>G Copied from the Exome Variant Server PLAUR_000025 1/13006 0/8600 1/4406
?/? c.693G>C r.(?) p.(Glu231Asp) g.44156438C>G Copied from the Exome Variant Server PLAUR_000024 1/13006 1/8600 0/4406
?/? c.744C>T r.(=) p.(=) g.44156387G>A Copied from the Exome Variant Server PLAUR_000023 43/13006 0/8600 43/4406
?/? c.753C>T r.(=) p.(=) g.44156378G>A Copied from the Exome Variant Server PLAUR_000021 40/13006 32/8600 8/4406
?/? c.754+25G>A r.(=) p.(=) g.44156352C>T Copied from the Exome Variant Server PLAUR_000019 39/13006 0/8600 39/4406
?/? c.754+43T>C r.(=) p.(=) g.44156334A>G Copied from the Exome Variant Server PLAUR_000017 5/13006 0/8600 5/4406
?/? c.755-18C>T r.(=) p.(=) g.44153313G>A Copied from the Exome Variant Server PLAUR_000015 100/13006 2/8600 98/4406
?/? c.755-17G>A r.(=) p.(=) g.44153312C>T Copied from the Exome Variant Server PLAUR_000013 2/13006 1/8600 1/4406
?/? c.755-6C>G r.(=) p.(=) g.44153301G>C Copied from the Exome Variant Server PLAUR_000011 1/13006 0/8600 1/4406
?/? c.795C>T r.(=) p.(=) g.44153255G>A Copied from the Exome Variant Server PLAUR_000022 175/13006 154/8600 21/4406
?/? c.802A>G r.(?) p.(Met268Val) g.44153248T>C Copied from the Exome Variant Server PLAUR_000020 58/13006 53/8600 5/4406
?/? c.843C>A r.(?) p.(Asn281Lys) g.44153207G>T Copied from the Exome Variant Server PLAUR_000018 47/13006 0/8600 47/4406
?/? c.846C>G r.(?) p.(His282Gln) g.44153204G>C Copied from the Exome Variant Server PLAUR_000016 1/13006 1/8600 0/4406
?/? c.915G>T r.(=) p.(=) g.44153135C>A Copied from the Exome Variant Server PLAUR_000014 1/13006 1/8600 0/4406
?/? c.950T>C r.(?) p.(Leu317Pro) g.44153100A>G Copied from the Exome Variant Server PLAUR_000012 1459/13006 1327/8600 132/4406
?/? c.996C>A r.(=) p.(=) g.44153054G>T Copied from the Exome Variant Server PLAUR_000010 1/13006 1/8600 0/4406
?/? c.1006T>C r.(?) p.(*336Glnext*2) g.44153044A>G Copied from the Exome Variant Server PLAUR_000009 3/13006 2/8600 1/4406
?/? c.*21C>T r.(=) p.(=) g.44153021G>A Copied from the Exome Variant Server PLAUR_000008 1/13006 0/8600 1/4406
?/? c.*35G>A r.(=) p.(=) g.44153007C>T Copied from the Exome Variant Server PLAUR_000007 2/13002 2/8598 0/4404
?/? c.*39G>A r.(=) p.(=) g.44153003C>T Copied from the Exome Variant Server PLAUR_000006 1446/13000 359/8596 1087/4404
?/? c.*2344C>T r.(=) p.(=) g.44150698G>A Copied from the Exome Variant Server PLAUR_000005 1/7272 1/4618 0/2654
?/? c.*2345G>A r.(=) p.(=) g.44150697C>T Copied from the Exome Variant Server PLAUR_000004 2/7272 2/4618 0/2654
?/? c.*2365T>C r.(=) p.(=) g.44150677A>G Copied from the Exome Variant Server PLAUR_000003 2/7272 0/4618 2/2654
?/? c.*2441G>A r.(=) p.(=) g.44150601C>T Copied from the Exome Variant Server PLAUR_000002 1/7272 1/4618 0/2654
?/? c.*2479C>T r.(=) p.(=) g.44150563G>A Copied from the Exome Variant Server PLAUR_000001 3/7272 0/4618 3/2654
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