Unique variants in gene OTC

Information The variants shown are described using the NM_000531.5 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-48G>T r.(=) p.(=) g.38211902G>T Copied from the Exome Variant Server OTC_000001 3/10561 3/6728 0/3833
1 c.68G>A r.(?) p.(Arg23Gln) g.38212017G>A Copied from the Exome Variant Server OTC_000002 1/10561 1/6728 0/3833
1 c.77+34G>A r.(=) p.(=) g.38212060G>A Copied from the Exome Variant Server OTC_000003 1/10561 1/6728 0/3833
1 c.78G>A r.(=) p.(=) g.38226544G>A Copied from the Exome Variant Server OTC_000004 1/10561 0/6728 1/3833
1 c.83G>A r.(?) p.(Gly28Glu) g.38226549G>A Copied from the Exome Variant Server OTC_000005 1/10561 1/6728 0/3833
1 c.127C>A r.(?) p.(Leu43Ile) g.38226593C>A Copied from the Exome Variant Server OTC_000006 1/10560 0/6727 1/3833
1 c.137A>G r.(?) p.(Lys46Arg) g.38226603A>G Copied from the Exome Variant Server OTC_000007 3066/10560 1623/6727 1443/3833
1 c.140A>C r.(?) p.(Asn47Thr) g.38226606A>C Copied from the Exome Variant Server OTC_000008 1/10560 1/6727 0/3833
1 c.147C>T r.(=) p.(=) g.38226613C>T Copied from the Exome Variant Server OTC_000009 1/10560 1/6727 0/3833
1 c.196A>C r.(=) p.(=) g.38226662A>C Copied from the Exome Variant Server OTC_000010 2/10559 0/6726 2/3833
1 c.216+23G>A r.(=) p.(=) g.38226705G>A Copied from the Exome Variant Server OTC_000011 1/10557 1/6724 0/3833
1 c.216+44del r.(=) p.(=) g.38226726del Copied from the Exome Variant Server OTC_000012 7/10136 6/6441 1/3695
1 c.216+44T>C r.(=) p.(=) g.38226726T>C Copied from the Exome Variant Server OTC_000013 1/10528 0/6707 1/3821
1 c.272C>T r.(?) p.(Thr91Ile) g.38229104C>T Copied from the Exome Variant Server OTC_000014 1/10561 1/6728 0/3833
1 c.298+9A>G r.(=) p.(=) g.38229139A>G Copied from the Exome Variant Server OTC_000015 1/10561 1/6728 0/3833
1 c.298+24C>G r.(=) p.(=) g.38229154C>G Copied from the Exome Variant Server OTC_000016 1/10561 0/6728 1/3833
1 c.299-40_299-39insT r.(=) p.(=) g.38240555_38240556insT Copied from the Exome Variant Server OTC_000017 1664/10167 1523/6466 141/3701
1 c.299-8T>A r.(=) p.(=) g.38240587T>A Copied from the Exome Variant Server OTC_000018 1652/10558 1518/6725 134/3833
1 c.299-5T>C r.spl? p.? g.38240590T>C Copied from the Exome Variant Server OTC_000019 1/10559 1/6726 0/3833
1 c.374C>T r.(?) p.(Thr125Met) g.38240670C>T Copied from the Exome Variant Server OTC_000020 1/10561 1/6728 0/3833
1 c.375G>A r.(=) p.(=) g.38240671G>A Copied from the Exome Variant Server OTC_000021 1/10561 0/6728 1/3833
1 c.385C>T r.(?) p.(Arg129Cys) g.38240681C>T Copied from the Exome Variant Server OTC_000022 2/10561 1/6728 1/3833
1 c.386+54T>C r.(=) p.(=) g.38240736T>C Copied from the Exome Variant Server OTC_000023 3/3600 3/2391 0/1209
1 c.387-49A>G r.(=) p.(=) g.38260479A>G Copied from the Exome Variant Server OTC_000024 1/10559 1/6726 0/3833
1 c.387-32T>A r.(=) p.(=) g.38260496T>A Copied from the Exome Variant Server OTC_000025 5/10561 5/6728 0/3833
1 c.387-25T>C r.(=) p.(=) g.38260503T>C Copied from the Exome Variant Server OTC_000026 1/10561 1/6728 0/3833
1 c.390A>G r.(=) p.(=) g.38260531A>G Copied from the Exome Variant Server OTC_000027 2/10561 2/6728 0/3833
1 c.420_421insCC r.(?) p.(Arg141Profs*47) g.38260561_38260562insCC Copied from the Exome Variant Server OTC_000028 38/10205 22/6484 16/3721
1 c.429T>C r.(=) p.(=) g.38260570T>C Copied from the Exome Variant Server OTC_000029 45/10561 0/6728 45/3833
1 c.529C>T r.(?) p.(Leu177Phe) g.38260670C>T Copied from the Exome Variant Server OTC_000030 1/10561 0/6728 1/3833
1 c.541-36G>A r.(=) p.(=) g.38262835G>A Copied from the Exome Variant Server OTC_000031 1/10561 1/6728 0/3833
1 c.541-11G>A r.(=) p.(=) g.38262860G>A Copied from the Exome Variant Server OTC_000032 1/10561 0/6728 1/3833
1 c.582C>T r.(=) p.(=) g.38262912C>T Copied from the Exome Variant Server OTC_000033 1/10561 1/6728 0/3833
1 c.625G>T r.(?) p.(Ala209Ser) g.38262955G>T Copied from the Exome Variant Server OTC_000034 1/10561 1/6728 0/3833
1 c.626C>G r.(?) p.(Ala209Gly) g.38262956C>G Copied from the Exome Variant Server OTC_000035 1/10561 1/6728 0/3833
1 c.663+50A>G r.(=) p.(=) g.38263043A>G Copied from the Exome Variant Server OTC_000036 23/10561 21/6728 2/3833
1 c.663+51G>A r.(=) p.(=) g.38263044G>A Copied from the Exome Variant Server OTC_000037 1/10561 1/6728 0/3833
1 c.664-43T>C r.(=) p.(=) g.38267952T>C Copied from the Exome Variant Server OTC_000038 1/10539 0/6712 1/3827
1 c.670G>C r.(?) p.(Glu224Gln) g.38268001G>C Copied from the Exome Variant Server OTC_000039 1/10561 1/6728 0/3833
1 c.675G>A r.(=) p.(=) g.38268006G>A Copied from the Exome Variant Server OTC_000040 1/10561 1/6728 0/3833
1 c.717+13C>T r.(=) p.(=) g.38268061C>T Copied from the Exome Variant Server OTC_000041 1/10561 0/6728 1/3833
1 c.717+15T>C r.(=) p.(=) g.38268063T>C Copied from the Exome Variant Server OTC_000042 1/10561 1/6728 0/3833
1 c.717+31C>T r.(=) p.(=) g.38268079C>T Copied from the Exome Variant Server OTC_000043 4/10561 4/6728 0/3833
1 c.718-18C>T r.(=) p.(=) g.38268111C>T Copied from the Exome Variant Server OTC_000044 1/10561 1/6728 0/3833
1 c.718-17G>A r.(=) p.(=) g.38268112G>A Copied from the Exome Variant Server OTC_000045 1/10561 0/6728 1/3833
1 c.718-14T>C r.(=) p.(=) g.38268115T>C Copied from the Exome Variant Server OTC_000046 731/10561 3/6728 728/3833
1 c.718-10T>C r.(=) p.(=) g.38268119T>C Copied from the Exome Variant Server OTC_000047 1/10561 1/6728 0/3833
1 c.751T>C r.(=) p.(=) g.38268162T>C Copied from the Exome Variant Server OTC_000048 80/10561 0/6728 80/3833
1 c.773A>G r.(?) p.(Asn258Ser) g.38268184A>G Copied from the Exome Variant Server OTC_000049 1/10561 1/6728 0/3833
1 c.809A>G r.(?) p.(Gln270Arg) g.38268220A>G Copied from the Exome Variant Server OTC_000050 351/10561 329/6728 22/3833
1 c.867+27T>C r.(=) p.(=) g.38268305T>C Copied from the Exome Variant Server OTC_000051 5/10547 0/6726 5/3821
1 c.867+35T>G r.(=) p.(=) g.38268313T>G Copied from the Exome Variant Server OTC_000052 286/10534 248/6717 38/3817
1 c.868-13C>A r.(=) p.(=) g.38271102C>A Copied from the Exome Variant Server OTC_000053 2/10561 0/6728 2/3833
1 c.868-8C>T r.(=) p.(=) g.38271107C>T Copied from the Exome Variant Server OTC_000054 1/10561 0/6728 1/3833
1 c.915C>G r.(=) p.(=) g.38271162C>G Copied from the Exome Variant Server OTC_000055 1/10561 1/6728 0/3833
1 c.941A>C r.(?) p.(Glu314Ala) g.38271188A>C Copied from the Exome Variant Server OTC_000056 8/10561 0/6728 8/3833
1 c.955C>T r.(?) p.(Pro319Ser) g.38271202C>T Copied from the Exome Variant Server OTC_000057 1/10561 1/6728 0/3833
1 c.1005+11A>T r.(=) p.(=) g.38271263A>T Copied from the Exome Variant Server OTC_000058 1/10561 1/6728 0/3833
1 c.1005+26A>G r.(=) p.(=) g.38271278A>G Copied from the Exome Variant Server OTC_000059 1/10561 1/6728 0/3833
1 c.1005+47A>G r.(=) p.(=) g.38271299A>G Copied from the Exome Variant Server OTC_000060 1/10561 1/6728 0/3833
1 c.1006-70C>T r.(=) p.(=) g.38280206C>T Copied from the Exome Variant Server OTC_000061 582/3600 525/2391 57/1209
1 c.1006-70_1006-68del r.(=) p.(=) g.38280206_38280208del Copied from the Exome Variant Server OTC_000062 279/10204 258/6483 21/3721
1 c.1006-43G>A r.(=) p.(=) g.38280233G>A Copied from the Exome Variant Server OTC_000063 2/10561 2/6728 0/3833
1 c.1012A>C r.(?) p.(Met338Leu) g.38280282A>C Copied from the Exome Variant Server OTC_000064 1/10561 1/6728 0/3833
1 c.*60_*61insG r.(=) p.(=) g.38280395_38280396insG Copied from the Exome Variant Server OTC_000065 1/10205 1/6484 0/3721
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