Full data view for gene DNASE1L1

Information The variants shown are described using the NM_001009932.1 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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.-609G>A r.(=) p.(=) g.153640406C>T Copied from the Exome Variant Server TAZ_000016 1805/10551 1666/6726 139/3825 - - - - - - -
?/? c.-575G>A r.(=) p.(=) g.153640372C>T Copied from the Exome Variant Server TAZ_000015 1/10533 1/6716 0/3817 - - - - - - -
?/? c.-44A>G r.(=) p.(=) g.153633953T>C Copied from the Exome Variant Server DNASE1L1_000044 9179/10445 5925/6642 3254/3803 - - - - - - -
?/? c.-40G>A r.(=) p.(=) g.153633949C>T Copied from the Exome Variant Server DNASE1L1_000043 201/10473 1/6664 200/3809 - - - - - - -
?/? c.-18C>T r.(=) p.(=) g.153633927G>A Copied from the Exome Variant Server DNASE1L1_000042 1/10531 1/6707 0/3824 - - - - - - -
?/? c.-17G>A r.(=) p.(=) g.153633926C>T Copied from the Exome Variant Server DNASE1L1_000041 7/10538 3/6713 4/3825 - - - - - - -
?/? c.14C>T r.(?) p.(Thr5Ile) g.153633896G>A Copied from the Exome Variant Server DNASE1L1_000025 3/10557 3/6723 0/3834 - - - - - - -
?/? c.41A>G r.(?) p.(Asn14Ser) g.153633869T>C Copied from the Exome Variant Server DNASE1L1_000024 9/10561 0/6726 9/3835 - - - - - - -
?/? c.88A>T r.(?) p.(Thr30Ser) g.153633822T>A Copied from the Exome Variant Server DNASE1L1_000023 1/10562 0/6728 1/3834 - - - - - - -
?/? c.94G>A r.(?) p.(Ala32Thr) g.153633816C>T Copied from the Exome Variant Server DNASE1L1_000022 1/10562 1/6728 0/3834 - - - - - - -
?/? c.135+27T>A r.(=) p.(=) g.153633748A>T Copied from the Exome Variant Server DNASE1L1_000021 18/10562 0/6727 18/3835 - - - - - - -
?/? c.135+51del r.(=) p.(=) g.153633724del Copied from the Exome Variant Server DNASE1L1_000020 16/10203 0/6482 16/3721 - - - - - - -
?/? c.162G>A r.(=) p.(=) g.153633398C>T Copied from the Exome Variant Server DNASE1L1_000019 2/10563 0/6728 2/3835 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.153633383C>T Copied from the Exome Variant Server DNASE1L1_000018 18/10562 0/6727 18/3835 - - - - - - -
?/? c.192C>T r.(=) p.(=) g.153633368G>A Copied from the Exome Variant Server DNASE1L1_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.201C>G r.(=) p.(=) g.153633359G>C Copied from the Exome Variant Server DNASE1L1_000016 7191/10563 5986/6728 1205/3835 - - - - - - -
?/? c.212G>A r.(?) p.(Arg71Gln) g.153633348C>T Copied from the Exome Variant Server DNASE1L1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.224G>A r.(?) p.(Arg75Gln) g.153633336C>T Copied from the Exome Variant Server DNASE1L1_000014 2/10563 1/6728 1/3835 - - - - - - -
?/? c.224+18G>C r.(=) p.(=) g.153633318C>G Copied from the Exome Variant Server DNASE1L1_000013 6/10563 6/6728 0/3835 - - - - - - -
?/? c.239G>A r.(?) p.(Gly80Glu) g.153633241C>T Copied from the Exome Variant Server DNASE1L1_000012 1/10562 1/6728 0/3834 - - - - - - -
?/? c.293C>T r.(?) p.(Thr98Met) g.153633187G>A Copied from the Exome Variant Server DNASE1L1_000011 8/10562 7/6728 1/3834 - - - - - - -
?/? c.294G>A r.(=) p.(=) g.153633186C>T Copied from the Exome Variant Server DNASE1L1_000010 1/10561 1/6727 0/3834 - - - - - - -
?/? c.311+30_311+31insC r.(=) p.(=) g.153633138_153633139insG Copied from the Exome Variant Server DNASE1L1_000009 550/10194 5/6475 545/3719 - - - - - - -
?/? c.311+36del r.(=) p.(=) g.153633133del Copied from the Exome Variant Server DNASE1L1_000008 22/10186 17/6471 5/3715 - - - - - - -
?/? c.312-31G>A r.(=) p.(=) g.153631994C>T Copied from the Exome Variant Server DNASE1L1_000007 1/10558 1/6725 0/3833 - - - - - - -
?/? c.312-13T>C r.(=) p.(=) g.153631976A>G Copied from the Exome Variant Server DNASE1L1_000006 1/10562 1/6728 0/3834 - - - - - - -
?/? c.325C>G r.(?) p.(Gln109Glu) g.153631950G>C Copied from the Exome Variant Server DNASE1L1_000005 2/10562 0/6728 2/3834 - - - - - - -
?/? c.342C>T r.(=) p.(=) g.153631933G>A Copied from the Exome Variant Server DNASE1L1_000004 1/10562 0/6728 1/3834 - - - - - - -
?/? c.343G>A r.(?) p.(Val115Met) g.153631932C>T Copied from the Exome Variant Server DNASE1L1_000003 1/10562 0/6728 1/3834 - - - - - - -
?/? c.351C>T r.(=) p.(=) g.153631924G>A Copied from the Exome Variant Server DNASE1L1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.357G>A r.(=) p.(=) g.153631918C>T Copied from the Exome Variant Server DNASE1L1_000001 1/10563 0/6728 1/3835 - - - - - - -
?/? c.364G>A r.(?) p.(Val122Ile) g.153631911C>T Copied from the Exome Variant Server DNASE1L1_000040 340/10563 317/6728 23/3835 - - - - - - -
?/? c.424C>T r.(=) p.(=) g.153631711G>A Copied from the Exome Variant Server DNASE1L1_000039 1/10562 1/6727 0/3835 - - - - - - -
?/? c.459C>T r.(=) p.(=) g.153631676G>A Copied from the Exome Variant Server DNASE1L1_000038 3/10562 0/6727 3/3835 - - - - - - -
?/? c.460G>A r.(?) p.(Val154Ile) g.153631675C>T Copied from the Exome Variant Server DNASE1L1_000037 1/10562 1/6727 0/3835 - - - - - - -
?/? c.486C>T r.(=) p.(=) g.153631649G>A Copied from the Exome Variant Server DNASE1L1_000036 2/10562 2/6727 0/3835 - - - - - - -
?/? c.525+24G>A r.(=) p.(=) g.153631586C>T Copied from the Exome Variant Server DNASE1L1_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.526-39G>A r.(=) p.(=) g.153631570C>T Copied from the Exome Variant Server DNASE1L1_000034 55/10563 0/6728 55/3835 - - - - - - -
?/? c.526-10G>T r.(=) p.(=) g.153631541C>A Copied from the Exome Variant Server DNASE1L1_000033 7/10563 6/6728 1/3835 - - - - - - -
?/? c.526-9T>C r.(=) p.(=) g.153631540A>G Copied from the Exome Variant Server DNASE1L1_000032 2/10563 0/6728 2/3835 - - - - - - -
?/? c.526-8_526-7del r.(=) p.(=) g.153631538_153631539del Copied from the Exome Variant Server DNASE1L1_000031 17/10205 11/6484 6/3721 - - - - - - -
?/? c.526-3T>C r.spl? p.? g.153631534A>G Copied from the Exome Variant Server DNASE1L1_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.528C>T r.(=) p.(=) g.153631529G>A Copied from the Exome Variant Server DNASE1L1_000029 2/10563 0/6728 2/3835 - - - - - - -
?/? c.597G>C r.(?) p.(Glu199Asp) g.153631460C>G Copied from the Exome Variant Server DNASE1L1_000028 2/10563 2/6728 0/3835 - - - - - - -
?/? c.627G>A r.(=) p.(=) g.153631430C>T Copied from the Exome Variant Server DNASE1L1_000027 1/10563 1/6728 0/3835 - - - - - - -
?/? c.715C>T r.(=) p.(=) g.153631342G>A Copied from the Exome Variant Server DNASE1L1_000026 1/10561 1/6726 0/3835 - - - - - - -
?/? c.774+13G>A r.(=) p.(=) g.153631270C>T Copied from the Exome Variant Server DNASE1L1_000056 1/10561 0/6727 1/3834 - - - - - - -
?/? c.775-39G>A r.(=) p.(=) g.153631221C>T Copied from the Exome Variant Server DNASE1L1_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.775-32G>C r.(=) p.(=) g.153631214C>G Copied from the Exome Variant Server DNASE1L1_000054 2/10563 2/6728 0/3835 - - - - - - -
?/? c.775-15A>C r.(=) p.(=) g.153631197T>G Copied from the Exome Variant Server DNASE1L1_000053 11/10563 0/6728 11/3835 - - - - - - -
?/? c.801C>T r.(=) p.(=) g.153631156G>A Copied from the Exome Variant Server DNASE1L1_000052 1/10563 0/6728 1/3835 - - - - - - -
?/? c.827A>G r.(?) p.(Gln276Arg) g.153631130T>C Copied from the Exome Variant Server DNASE1L1_000051 10/10563 0/6728 10/3835 - - - - - - -
?/? c.831G>A r.(=) p.(=) g.153631126C>T Copied from the Exome Variant Server DNASE1L1_000050 543/10563 3/6728 540/3835 - - - - - - -
?/? c.838G>A r.(?) p.(Val280Ile) g.153631119C>T Copied from the Exome Variant Server DNASE1L1_000049 55/10563 0/6728 55/3835 - - - - - - -
?/? c.898C>T r.(?) p.(Pro300Ser) g.153631059G>A Copied from the Exome Variant Server DNASE1L1_000048 1/10561 1/6728 0/3833 - - - - - - -
?/? c.*3G>A r.(=) p.(=) g.153631045C>T Copied from the Exome Variant Server DNASE1L1_000047 212/10560 0/6728 212/3832 - - - - - - -
?/? c.*6_*7insGTCC r.(=) p.(=) g.153631041_153631042insGGAC Copied from the Exome Variant Server DNASE1L1_000046 1/10198 1/6482 0/3716 - - - - - - -
?/? c.*18C>A r.(=) p.(=) g.153631030G>T Copied from the Exome Variant Server DNASE1L1_000045 9/10551 0/6724 9/3827 - - - - - - -
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