Full data view for gene OGT

Information The variants shown are described using the NM_181672.2 transcript reference sequence.

71 entries on 1 page. Showing entries 1 - 71.
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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.-50C>T r.(=) p.(=) g.70753100C>T Copied from the Exome Variant Server OGT_000001 1/10529 1/6699 0/3830 - - - - - - -
?/? c.-29C>A r.(=) p.(=) g.70753121C>A Copied from the Exome Variant Server OGT_000002 7/10552 0/6720 7/3832 - - - - - - -
?/? c.-12G>A r.(=) p.(=) g.70753138G>A Copied from the Exome Variant Server OGT_000003 1/10553 1/6720 0/3833 - - - - - - -
?/? c.-2A>G r.(=) p.(=) g.70753148A>G Copied from the Exome Variant Server OGT_000004 1/10558 0/6723 1/3835 - - - - - - -
?/? c.37+36C>T r.(=) p.(=) g.70753222C>T Copied from the Exome Variant Server OGT_000005 1/10538 1/6709 0/3829 - - - - - - -
?/? c.44C>T r.(?) p.(Thr15Met) g.70756034C>T Copied from the Exome Variant Server OGT_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.218+26G>A r.(=) p.(=) g.70756234G>A Copied from the Exome Variant Server OGT_000007 3/10563 1/6728 2/3835 - - - - - - -
?/? c.219-39C>T r.(=) p.(=) g.70757640C>T Copied from the Exome Variant Server OGT_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.313T>C r.(=) p.(=) g.70757773T>C Copied from the Exome Variant Server OGT_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.338G>A r.(?) p.(Arg113Gln) g.70757798G>A Copied from the Exome Variant Server OGT_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.439G>A r.(?) p.(Val147Ile) g.70757899G>A Copied from the Exome Variant Server OGT_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.458A>G r.(?) p.(Asn153Ser) g.70757918A>G Copied from the Exome Variant Server OGT_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.462+16A>G r.(=) p.(=) g.70757938A>G Copied from the Exome Variant Server OGT_000013 2/10563 2/6728 0/3835 - - - - - - -
?/? c.463-8G>A r.(=) p.(=) g.70764409G>A Copied from the Exome Variant Server OGT_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.531+64C>G r.(=) p.(=) g.70764549C>G Copied from the Exome Variant Server OGT_000015 1/3600 1/2391 0/1209 - - - - - - -
?/? c.532-10C>T r.(=) p.(=) g.70767747C>T Copied from the Exome Variant Server OGT_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.552T>C r.(=) p.(=) g.70767777T>C Copied from the Exome Variant Server OGT_000017 30/10563 1/6728 29/3835 - - - - - - -
?/? c.648+21T>C r.(=) p.(=) g.70767894T>C Copied from the Exome Variant Server OGT_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.648+42C>T r.(=) p.(=) g.70767915C>T Copied from the Exome Variant Server OGT_000019 2/10561 1/6728 1/3833 - - - - - - -
?/? c.728+33G>A r.(=) p.(=) g.70774475G>A Copied from the Exome Variant Server OGT_000020 1/10563 0/6728 1/3835 - - - - - - -
?/? c.780G>C r.(=) p.(=) g.70775091G>C Copied from the Exome Variant Server OGT_000021 1/10563 0/6728 1/3835 - - - - - - -
?/? c.948T>C r.(=) p.(=) g.70775827T>C Copied from the Exome Variant Server OGT_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1065+24G>A r.(=) p.(=) g.70775968G>A Copied from the Exome Variant Server OGT_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1166+7G>T r.(=) p.(=) g.70776637G>T Copied from the Exome Variant Server OGT_000024 62/10563 0/6728 62/3835 - - - - - - -
?/? c.1167-6del r.(=) p.(=) g.70776796del Copied from the Exome Variant Server OGT_000025 55/10203 45/6482 10/3721 - - - - - - -
?/? c.1215A>G r.(=) p.(=) g.70776850A>G Copied from the Exome Variant Server OGT_000026 1/10561 1/6726 0/3835 - - - - - - -
?/? c.1281A>C r.(=) p.(=) g.70776916A>C Copied from the Exome Variant Server OGT_000027 122/10563 0/6728 122/3835 - - - - - - -
?/? c.1422+4_1422+9del r.spl? p.? g.70777150_70777155del Copied from the Exome Variant Server OGT_000028 1/10201 1/6481 0/3720 - - - - - - -
?/? c.1422+22A>T r.(=) p.(=) g.70777168A>T Copied from the Exome Variant Server OGT_000029 2/10562 2/6727 0/3835 - - - - - - -
?/? c.1423-34del r.(=) p.(=) g.70777309del Copied from the Exome Variant Server OGT_000031 5/10205 0/6484 5/3721 - - - - - - -
?/? c.1500T>C r.(=) p.(=) g.70777420T>C Copied from the Exome Variant Server OGT_000033 8/10563 8/6728 0/3835 - - - - - - -
?/? c.1515G>A r.(=) p.(=) g.70777435G>A Copied from the Exome Variant Server OGT_000035 535/10563 2/6728 533/3835 - - - - - - -
?/? c.1536A>G r.(=) p.(=) g.70777456A>G Copied from the Exome Variant Server OGT_000037 3/10563 3/6728 0/3835 - - - - - - -
?/? c.1602+41_1602+42del r.(=) p.(=) g.70777563_70777564del Copied from the Exome Variant Server OGT_000039 197/10191 2/6472 195/3719 - - - - - - -
?/? c.1603-51A>G r.(=) p.(=) g.70779066A>G Copied from the Exome Variant Server OGT_000041 1/10562 1/6727 0/3835 - - - - - - -
?/? c.1615C>T r.(?) p.(His539Tyr) g.70779129C>T Copied from the Exome Variant Server OGT_000030 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1689C>T r.(=) p.(=) g.70779203C>T Copied from the Exome Variant Server OGT_000032 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1761+11T>C r.(=) p.(=) g.70779286T>C Copied from the Exome Variant Server OGT_000034 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1761+21G>C r.(=) p.(=) g.70779296G>C Copied from the Exome Variant Server OGT_000036 31/10563 29/6728 2/3835 - - - - - - -
?/? c.1761+33G>T r.(=) p.(=) g.70779308G>T Copied from the Exome Variant Server OGT_000038 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1762-34A>G r.(=) p.(=) g.70779404A>G Copied from the Exome Variant Server OGT_000040 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1788C>T r.(=) p.(=) g.70779464C>T Copied from the Exome Variant Server OGT_000042 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1852-50C>G r.(=) p.(=) g.70781575C>G Copied from the Exome Variant Server OGT_000043 20/10561 15/6727 5/3834 - - - - - - -
?/? c.1852-37G>T r.(=) p.(=) g.70781588G>T Copied from the Exome Variant Server OGT_000044 18/10562 0/6728 18/3834 - - - - - - -
?/? c.1953T>C r.(=) p.(=) g.70781726T>C Copied from the Exome Variant Server OGT_000045 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1977+12A>G r.(=) p.(=) g.70781762A>G Copied from the Exome Variant Server OGT_000046 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1978-28A>G r.(=) p.(=) g.70782669A>G Copied from the Exome Variant Server OGT_000047 3/10563 3/6728 0/3835 - - - - - - -
?/? c.2013G>A r.(=) p.(=) g.70782732G>A Copied from the Exome Variant Server OGT_000048 2/10563 1/6728 1/3835 - - - - - - -
?/? c.2148+5G>A r.spl? p.? g.70782872G>A Copied from the Exome Variant Server OGT_000049 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2149-38A>C r.(=) p.(=) g.70782942A>C Copied from the Exome Variant Server OGT_000050 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2149-25T>C r.(=) p.(=) g.70782955T>C Copied from the Exome Variant Server OGT_000051 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2149-5A>G r.spl? p.? g.70782975A>G Copied from the Exome Variant Server OGT_000052 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2265+16G>A r.(=) p.(=) g.70783112G>A Copied from the Exome Variant Server OGT_000053 35/10563 0/6728 35/3835 - - - - - - -
?/? c.2265+23C>T r.(=) p.(=) g.70783119C>T Copied from the Exome Variant Server OGT_000054 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2266-34C>T r.(=) p.(=) g.70783145C>T Copied from the Exome Variant Server OGT_000055 2/10563 0/6728 2/3835 - - - - - - -
?/? c.2266-13_2266-12insT r.(=) p.(=) g.70783166_70783167insT Copied from the Exome Variant Server OGT_000056 8/10205 4/6484 4/3721 - - - - - - -
?/? c.2300G>A r.(?) p.(Ser767Asn) g.70783213G>A Copied from the Exome Variant Server OGT_000057 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2430T>C r.(=) p.(=) g.70783343T>C Copied from the Exome Variant Server OGT_000058 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2436+13T>C r.(=) p.(=) g.70783362T>C Copied from the Exome Variant Server OGT_000059 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2436+17A>G r.(=) p.(=) g.70783366A>G Copied from the Exome Variant Server OGT_000060 11/10563 11/6728 0/3835 - - - - - - -
?/? c.2436+19A>G r.(=) p.(=) g.70783368A>G Copied from the Exome Variant Server OGT_000061 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2523C>T r.(=) p.(=) g.70784537C>T Copied from the Exome Variant Server OGT_000062 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2589+18del r.(=) p.(=) g.70784621del Copied from the Exome Variant Server OGT_000063 520/10205 4/6484 516/3721 - - - - - - -
?/? c.2652T>G r.(=) p.(=) g.70787412T>G Copied from the Exome Variant Server OGT_000064 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2790C>T r.(=) p.(=) g.70787550C>T Copied from the Exome Variant Server OGT_000065 1/10563 0/6728 1/3835 - - - - - - -
?/? c.2841A>G r.(=) p.(=) g.70787601A>G Copied from the Exome Variant Server OGT_000066 13/10563 13/6728 0/3835 - - - - - - -
?/? c.2842+51C>T r.(=) p.(=) g.70787653C>T Copied from the Exome Variant Server OGT_000067 1/10562 1/6727 0/3835 - - - - - - -
?/? c.2843-38C>T r.(=) p.(=) g.70787805C>T Copied from the Exome Variant Server OGT_000068 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2916C>T r.(=) p.(=) g.70787916C>T Copied from the Exome Variant Server OGT_000069 1/10563 1/6728 0/3835 - - - - - - -
?/? c.2967-46T>G r.(=) p.(=) g.70793424T>G Copied from the Exome Variant Server OGT_000070 1/10562 1/6727 0/3835 - - - - - - -
?/? c.3057C>G r.(=) p.(=) g.70793560C>G Copied from the Exome Variant Server OGT_000071 1/10563 1/6728 0/3835 - - - - - - -
Legend