Full data view for gene PTAR1

Information The variants shown are described using the NM_001099666.1 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
Legend  

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.69C>T r.(=) p.(=) g.72374786G>A Copied from the Exome Variant Server PTAR1_000057 2/12226 2/8228 0/3998 - - - - - - -
?/? c.86+11C>A r.(=) p.(=) g.72374758G>T Copied from the Exome Variant Server PTAR1_000056 1/11554 1/7822 0/3732 - - - - - - -
?/? c.89A>G r.(?) p.(Asp30Gly) g.72365864T>C Copied from the Exome Variant Server PTAR1_000055 4/11872 3/8168 1/3704 - - - - - - -
?/? c.134G>A r.(?) p.(Ser45Asn) g.72365819C>T Copied from the Exome Variant Server PTAR1_000054 1/12062 1/8238 0/3824 - - - - - - -
?/? c.144C>T r.(=) p.(=) g.72365809G>A Copied from the Exome Variant Server PTAR1_000058 2/12072 2/8242 0/3830 - - - - - - -
?/? c.155A>G r.(?) p.(Asn52Ser) g.72365798T>C Copied from the Exome Variant Server PTAR1_000052 1/12072 1/8246 0/3826 - - - - - - -
?/? c.198A>G r.(=) p.(=) g.72365755T>C Copied from the Exome Variant Server PTAR1_000050 1/12096 1/8258 0/3838 - - - - - - -
?/? c.256+42G>A r.(=) p.(=) g.72365655C>T Copied from the Exome Variant Server PTAR1_000048 1/11950 1/8216 0/3734 - - - - - - -
?/? c.257-48T>C r.(=) p.(=) g.72356822A>G Copied from the Exome Variant Server PTAR1_000053 56/11714 0/8096 56/3618 - - - - - - -
?/? c.257-43del r.(=) p.(=) g.72356817del Copied from the Exome Variant Server PTAR1_000051 10/11276 0/7776 10/3500 - - - - - - -
?/? c.257-36A>G r.(=) p.(=) g.72356810T>C Copied from the Exome Variant Server PTAR1_000049 2/11768 0/8138 2/3630 - - - - - - -
?/? c.257-11C>G r.(=) p.(=) g.72356785G>C Copied from the Exome Variant Server PTAR1_000047 1/11830 0/8166 1/3664 - - - - - - -
?/? c.306C>G r.(=) p.(=) g.72356725G>C Copied from the Exome Variant Server PTAR1_000046 2/11980 2/8226 0/3754 - - - - - - -
?/? c.308C>T r.(?) p.(Thr103Ile) g.72356723G>A Copied from the Exome Variant Server PTAR1_000045 1/11990 1/8234 0/3756 - - - - - - -
?/? c.318C>T r.(=) p.(=) g.72356713G>A Copied from the Exome Variant Server PTAR1_000044 1/11984 1/8232 0/3752 - - - - - - -
?/? c.319G>A r.(?) p.(Val107Met) g.72356712C>T Copied from the Exome Variant Server PTAR1_000043 1/11978 1/8232 0/3746 - - - - - - -
?/? c.323+27T>C r.(=) p.(=) g.72356681A>G Copied from the Exome Variant Server PTAR1_000042 1/11928 1/8214 0/3714 - - - - - - -
?/? c.323+30_323+31insA r.(=) p.(=) g.72356677_72356678insT Copied from the Exome Variant Server PTAR1_000041 3/11456 3/7864 0/3592 - - - - - - -
?/? c.323+35G>A r.(=) p.(=) g.72356673C>T Copied from the Exome Variant Server PTAR1_000040 2/11898 1/8198 1/3700 - - - - - - -
?/? c.324-7_324-6insTTT r.(=) p.(=) g.72349176_72349177insAAA Copied from the Exome Variant Server PTAR1_000039 2876/8134 1968/5632 908/2502 - - - - - - -
?/? c.324-6del r.(=) p.(=) g.72349176del Copied from the Exome Variant Server PTAR1_000038 295/8134 227/5632 68/2502 - - - - - - -
?/? c.324-6_324-5del r.spl? p.? g.72349175_72349176del Copied from the Exome Variant Server PTAR1_000037 332/8134 230/5632 102/2502 - - - - - - -
?/? c.390A>C r.(?) p.(Leu130Phe) g.72349104T>G Copied from the Exome Variant Server PTAR1_000036 36/11798 34/8152 2/3646 - - - - - - -
?/? c.428+50G>A r.(=) p.(=) g.72349016C>T Copied from the Exome Variant Server PTAR1_000035 1/11914 1/8212 0/3702 - - - - - - -
?/? c.455A>G r.(?) p.(Gln152Arg) g.72347242T>C Copied from the Exome Variant Server PTAR1_000034 189/12102 2/8268 187/3834 - - - - - - -
?/? c.553G>A r.(?) p.(Gly185Ser) g.72347144C>T Copied from the Exome Variant Server PTAR1_000033 1/12256 0/8320 1/3936 - - - - - - -
?/? c.626C>T r.(?) p.(Ala209Val) g.72347071G>A Copied from the Exome Variant Server PTAR1_000032 1/12162 0/8270 1/3892 - - - - - - -
?/? c.636T>C r.(=) p.(=) g.72347061A>G Copied from the Exome Variant Server PTAR1_000031 2/12140 0/8254 2/3886 - - - - - - -
?/? c.642+40C>A r.(=) p.(=) g.72347015G>T Copied from the Exome Variant Server PTAR1_000030 1/11858 1/8170 0/3688 - - - - - - -
?/? c.645T>A r.(=) p.(=) g.72338544A>T Copied from the Exome Variant Server PTAR1_000029 1/11812 1/8174 0/3638 - - - - - - -
?/? c.675T>C r.(=) p.(=) g.72338514A>G Copied from the Exome Variant Server PTAR1_000028 140/11870 0/8204 140/3666 - - - - - - -
?/? c.682T>C r.(?) p.(Ser228Pro) g.72338507A>G Copied from the Exome Variant Server PTAR1_000027 1/11894 0/8222 1/3672 - - - - - - -
?/? c.718C>T r.(?) p.(Arg240Cys) g.72338471G>A Copied from the Exome Variant Server PTAR1_000026 1/11922 1/8226 0/3696 - - - - - - -
?/? c.733A>G r.(?) p.(Lys245Glu) g.72338456T>C Copied from the Exome Variant Server PTAR1_000025 1/11938 1/8228 0/3710 - - - - - - -
?/? c.830C>T r.(?) p.(Ala277Val) g.72338359G>A Copied from the Exome Variant Server PTAR1_000024 1/11968 0/8218 1/3750 - - - - - - -
?/? c.865C>G r.(?) p.(Pro289Ala) g.72338324G>C Copied from the Exome Variant Server PTAR1_000023 1/11920 1/8198 0/3722 - - - - - - -
?/? c.896G>C r.(?) p.(Ser299Thr) g.72338293C>G Copied from the Exome Variant Server PTAR1_000022 9/11940 9/8212 0/3728 - - - - - - -
?/? c.947+46C>T r.(=) p.(=) g.72338196G>A Copied from the Exome Variant Server PTAR1_000021 1/12160 1/8304 0/3856 - - - - - - -
?/? c.948-7A>G r.(=) p.(=) g.72333607T>C Copied from the Exome Variant Server PTAR1_000020 1/11952 1/8200 0/3752 - - - - - - -
?/? c.948-5C>T r.spl? p.? g.72333605G>A Copied from the Exome Variant Server PTAR1_000019 1/11954 0/8202 1/3752 - - - - - - -
?/? c.949C>T r.(?) p.(Arg317Trp) g.72333599G>A Copied from the Exome Variant Server PTAR1_000018 2/11980 2/8212 0/3768 - - - - - - -
?/? c.982+10C>T r.(=) p.(=) g.72333556G>A Copied from the Exome Variant Server PTAR1_000017 2/12088 2/8258 0/3830 - - - - - - -
?/? c.982+29G>A r.(=) p.(=) g.72333537C>T Copied from the Exome Variant Server PTAR1_000016 1/12140 1/8278 0/3862 - - - - - - -
?/? c.982+38A>T r.(=) p.(=) g.72333528T>A Copied from the Exome Variant Server PTAR1_000015 1/12142 0/8276 1/3866 - - - - - - -
?/? c.983-21_983-18del r.(=) p.(=) g.72333502_72333505del Copied from the Exome Variant Server PTAR1_000014 45/11728 34/7950 11/3778 - - - - - - -
?/? c.983-11C>G r.(=) p.(=) g.72333495G>C Copied from the Exome Variant Server PTAR1_000013 1/12272 0/8326 1/3946 - - - - - - -
?/? c.983-9T>C r.(=) p.(=) g.72333493A>G Copied from the Exome Variant Server PTAR1_000012 2/12260 2/8324 0/3936 - - - - - - -
?/? c.992A>G r.(?) p.(Gln331Arg) g.72333475T>C Copied from the Exome Variant Server PTAR1_000011 1/12240 1/8328 0/3912 - - - - - - -
?/? c.1006A>G r.(?) p.(Met336Val) g.72333461T>C Copied from the Exome Variant Server PTAR1_000010 7/12270 7/8352 0/3918 - - - - - - -
?/? c.1059C>T r.(=) p.(=) g.72333408G>A Copied from the Exome Variant Server PTAR1_000009 2/12198 0/8300 2/3898 - - - - - - -
?/? c.1076C>T r.(?) p.(Thr359Met) g.72333391G>A Copied from the Exome Variant Server PTAR1_000008 2/12202 2/8306 0/3896 - - - - - - -
?/? c.1149C>T r.(=) p.(=) g.72333318G>A Copied from the Exome Variant Server PTAR1_000007 1/12130 1/8290 0/3840 - - - - - - -
?/? c.1185A>G r.(=) p.(=) g.72333282T>C Copied from the Exome Variant Server PTAR1_000006 1/12018 0/8244 1/3774 - - - - - - -
?/? c.1202G>A r.(?) p.(Ser401Asn) g.72333265C>T Copied from the Exome Variant Server PTAR1_000005 3/11972 3/8228 0/3744 - - - - - - -
?/? c.1207T>C r.(?) p.(*403Argext*3) g.72333260A>G Copied from the Exome Variant Server PTAR1_000004 7/11960 0/8220 7/3740 - - - - - - -
?/? c.*16C>T r.(=) p.(=) g.72333242G>A Copied from the Exome Variant Server PTAR1_000003 2/11930 2/8206 0/3724 - - - - - - -
?/? c.*23G>T r.(=) p.(=) g.72333235C>A Copied from the Exome Variant Server PTAR1_000002 1/11910 0/8198 1/3712 - - - - - - -
?/? c.*49T>G r.(=) p.(=) g.72333209A>C Copied from the Exome Variant Server PTAR1_000001 1/11848 1/8168 0/3680 - - - - - - -
Legend