All transcript variants in gene SIRT5

Information The variants shown are described using the NM_001193267.2 transcript reference sequence.

93 entries on 1 page. Showing entries 1 - 93.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-35-12_-35-11insT r.(=) p.(=) g.13584296_13584297insT Copied from the Exome Variant Server SIRT5_000001 1/12518 0/8254 1/4264
?/? c.5G>A r.(?) p.(Arg2Gln) g.13584347G>A Copied from the Exome Variant Server SIRT5_000002 8/13006 1/8600 7/4406
?/? c.14A>G r.(?) p.(Gln5Arg) g.13584356A>G Copied from the Exome Variant Server SIRT5_000003 4/13006 0/8600 4/4406
?/? c.28C>A r.(=) p.(=) g.13584370C>A Copied from the Exome Variant Server SIRT5_000004 18/13006 2/8600 16/4406
?/? c.31T>A r.(?) p.(Leu11Met) g.13584373T>A Copied from the Exome Variant Server SIRT5_000005 1/13006 1/8600 0/4406
?/? c.45A>G r.(=) p.(=) g.13584387A>G Copied from the Exome Variant Server SIRT5_000006 2/13006 1/8600 1/4406
?/? c.69G>A r.(=) p.(=) g.13584411G>A Copied from the Exome Variant Server SIRT5_000007 1/13006 1/8600 0/4406
?/? c.103C>T r.(?) p.(Arg35Trp) g.13584445C>T Copied from the Exome Variant Server SIRT5_000008 1/13006 0/8600 1/4406
?/? c.115+36A>G r.(=) p.(=) g.13584493A>G Copied from the Exome Variant Server SIRT5_000009 1/13006 0/8600 1/4406
?/? c.116-31A>G r.(=) p.(=) g.13588532A>G Copied from the Exome Variant Server SIRT5_000010 1/13006 1/8600 0/4406
?/? c.189A>G r.(=) p.(=) g.13588636A>G Copied from the Exome Variant Server SIRT5_000011 1/13006 1/8600 0/4406
?/? c.198T>C r.(=) p.(=) g.13588645T>C Copied from the Exome Variant Server SIRT5_000012 1/13006 0/8600 1/4406
?/? c.199G>C r.(?) p.(Val67Leu) g.13588646G>C Copied from the Exome Variant Server SIRT5_000013 1/13006 0/8600 1/4406
?/? c.249+3T>G r.spl? p.? g.13588699T>G Copied from the Exome Variant Server SIRT5_000014 1/13006 1/8600 0/4406
?/? c.249+24del r.(=) p.(=) g.13588720del Copied from the Exome Variant Server SIRT5_000015 495/12518 451/8254 44/4264
?/? c.249+36C>T r.(=) p.(=) g.13588732C>T Copied from the Exome Variant Server SIRT5_000016 35/13006 0/8600 35/4406
?/? c.249+51C>T r.(=) p.(=) g.13588747C>T Copied from the Exome Variant Server SIRT5_000017 2/13002 0/8596 2/4406
?/? c.250-18C>T r.(=) p.(=) g.13591883C>T Copied from the Exome Variant Server SIRT5_000018 3/12934 0/8568 3/4366
?/? c.251A>G r.(?) p.(Asp84Gly) g.13591902A>G Copied from the Exome Variant Server SIRT5_000019 2/12982 2/8592 0/4390
?/? c.257C>T r.(?) p.(Ala86Val) g.13591908C>T Copied from the Exome Variant Server SIRT5_000020 2/12986 1/8592 1/4394
?/? c.285G>A r.(=) p.(=) g.13591936G>A Copied from the Exome Variant Server SIRT5_000021 1/12998 1/8596 0/4402
?/? c.287C>T r.(?) p.(Ser96Phe) g.13591938C>T Copied from the Exome Variant Server SIRT5_000022 1/12998 0/8596 1/4402
?/? c.290G>A r.(?) p.(Arg97Gln) g.13591941G>A Copied from the Exome Variant Server SIRT5_000023 1/13000 1/8598 0/4402
?/? c.316C>T r.(?) p.(Arg106Trp) g.13591967C>T Copied from the Exome Variant Server SIRT5_000024 1/13004 1/8600 0/4404
?/? c.335A>C r.(?) p.(Lys112Thr) g.13591986A>C Copied from the Exome Variant Server SIRT5_000025 1/13004 1/8600 0/4404
?/? c.339G>T r.(?) p.(Glu113Asp) g.13591990G>T Copied from the Exome Variant Server SIRT5_000026 1/13004 0/8600 1/4404
?/? c.346G>T r.(?) p.(Ala116Ser) g.13591997G>T Copied from the Exome Variant Server SIRT5_000027 1/13000 1/8596 0/4404
?/? c.349G>A r.(?) p.(Gly117Arg) g.13592000G>A Copied from the Exome Variant Server SIRT5_000028 2/13000 2/8596 0/4404
?/? c.357C>T r.(=) p.(=) g.13592008C>T Copied from the Exome Variant Server SIRT5_000029 2/13002 2/8596 0/4406
?/? c.366C>T r.(=) p.(=) g.13592017C>T Copied from the Exome Variant Server SIRT5_000030 1/13002 1/8596 0/4406
?/? c.367G>C r.(?) p.(Glu123Gln) g.13592018G>C Copied from the Exome Variant Server SIRT5_000031 2/13002 2/8596 0/4406
?/? c.379C>T r.(?) p.(Arg127Trp) g.13592030C>T Copied from the Exome Variant Server SIRT5_000032 1/13006 1/8600 0/4406
?/? c.380G>A r.(?) p.(Arg127Gln) g.13592031G>A Copied from the Exome Variant Server SIRT5_000033 1/13006 0/8600 1/4406
?/? c.402A>C r.(=) p.(=) g.13592053A>C Copied from the Exome Variant Server SIRT5_000034 1/13006 1/8600 0/4406
?/? c.406G>A r.(?) p.(Val136Met) g.13592057G>A Copied from the Exome Variant Server SIRT5_000035 2/13006 2/8600 0/4406
?/? c.439C>T r.(?) p.(Arg147Cys) g.13592090C>T Copied from the Exome Variant Server SIRT5_000036 1/13006 1/8600 0/4406
?/? c.473A>G r.(?) p.(His158Arg) g.13592124A>G Copied from the Exome Variant Server SIRT5_000037 1/13006 0/8600 1/4406
?/? c.475+9C>T r.(=) p.(=) g.13592135C>T Copied from the Exome Variant Server SIRT5_000038 3363/13006 2767/8600 596/4406
?/? c.475+10_475+11insCCCA r.(=) p.(=) g.13592136_13592137insCCCA Copied from the Exome Variant Server SIRT5_000039 2/12518 0/8254 2/4264
?/? c.475+41A>G r.(=) p.(=) g.13592167A>G Copied from the Exome Variant Server SIRT5_000040 15/13004 11/8600 4/4404
?/? c.476-38A>G r.(=) p.(=) g.13595671A>G Copied from the Exome Variant Server SIRT5_000041 12/13006 10/8600 2/4406
?/? c.476-28C>T r.(=) p.(=) g.13595681C>T Copied from the Exome Variant Server SIRT5_000042 1/13006 0/8600 1/4406
?/? c.511G>A r.(?) p.(Val171Ile) g.13595744G>A Copied from the Exome Variant Server SIRT5_000043 2/13006 2/8600 0/4406
?/? c.517G>A r.(?) p.(Ala173Thr) g.13595750G>A Copied from the Exome Variant Server SIRT5_000044 16/13006 2/8600 14/4406
?/? c.528C>T r.(=) p.(=) g.13595761C>T Copied from the Exome Variant Server SIRT5_000045 1/13006 1/8600 0/4406
?/? c.532A>C r.(?) p.(Ser178Arg) g.13595765A>C Copied from the Exome Variant Server SIRT5_000046 38/13006 0/8600 38/4406
?/? c.538A>G r.(?) p.(Ile180Val) g.13595771A>G Copied from the Exome Variant Server SIRT5_000047 3/13006 3/8600 0/4406
?/? c.544C>T r.(?) p.(Pro182Ser) g.13595777C>T Copied from the Exome Variant Server SIRT5_000049 1/13006 1/8600 0/4406
?/? c.551T>C r.(?) p.(Leu184Ser) g.13595784T>C Copied from the Exome Variant Server SIRT5_000051 1/13006 1/8600 0/4406
?/? c.563+15C>T r.(=) p.(=) g.13595811C>T Copied from the Exome Variant Server SIRT5_000053 1/13006 0/8600 1/4406
?/? c.563+1369A>G r.(=) p.(=) g.13597165A>G Copied from the Exome Variant Server SIRT5_000048 2/13006 2/8600 0/4406
?/? c.563+1472T>A r.(=) p.(=) g.13597268T>A Copied from the Exome Variant Server SIRT5_000050 1/13006 0/8600 1/4406
?/? c.564-30G>A r.(=) p.(=) g.13599234G>A Copied from the Exome Variant Server SIRT5_000052 1/13006 1/8600 0/4406
?/? c.564-4C>G r.spl? p.? g.13599260C>G Copied from the Exome Variant Server SIRT5_000054 1/13006 1/8600 0/4406
?/? c.568G>A r.(?) p.(Glu190Lys) g.13599268G>A Copied from the Exome Variant Server SIRT5_000055 1/13006 1/8600 0/4406
?/? c.570A>G r.(=) p.(=) g.13599270A>G Copied from the Exome Variant Server SIRT5_000056 3/13006 2/8600 1/4406
?/? c.583G>C r.(?) p.(Gly195Arg) g.13599283G>C Copied from the Exome Variant Server SIRT5_000057 1/13006 1/8600 0/4406
?/? c.603C>T r.(=) p.(=) g.13599303C>T Copied from the Exome Variant Server SIRT5_000058 2309/13006 2002/8600 307/4406
?/? c.606C>T r.(=) p.(=) g.13599306C>T Copied from the Exome Variant Server SIRT5_000059 16/13006 13/8600 3/4406
?/? c.607G>T r.(?) p.(Val203Leu) g.13599307G>T Copied from the Exome Variant Server SIRT5_000060 1/13006 0/8600 1/4406
?/? c.645G>A r.(=) p.(=) g.13599345G>A Copied from the Exome Variant Server SIRT5_000061 1/13006 1/8600 0/4406
?/? c.687+8A>G r.(=) p.(=) g.13599395A>G Copied from the Exome Variant Server SIRT5_000062 2/13006 0/8600 2/4406
?/? c.687+47_687+48insT r.(=) p.(=) g.13599434_13599435insT Copied from the Exome Variant Server SIRT5_000063 4/12516 0/8252 4/4264
?/? c.687+49T>G r.(=) p.(=) g.13599436T>G Copied from the Exome Variant Server SIRT5_000064 14/13006 12/8600 2/4406
?/? c.688-18C>T r.(=) p.(=) g.13601048C>T Copied from the Exome Variant Server SIRT5_000065 1/13006 1/8600 0/4406
?/? c.688G>T r.(?) p.(Val230Leu) g.13601066G>T Copied from the Exome Variant Server SIRT5_000066 1/13006 0/8600 1/4406
?/? c.694A>G r.(?) p.(Thr232Ala) g.13601072A>G Copied from the Exome Variant Server SIRT5_000067 1/13006 0/8600 1/4406
?/? c.728C>T r.(?) p.(Ala243Val) g.13601106C>T Copied from the Exome Variant Server SIRT5_000068 1/13006 0/8600 1/4406
?/? c.734A>C r.(?) p.(Gln245Pro) g.13601112A>C Copied from the Exome Variant Server SIRT5_000069 3/13006 2/8600 1/4406
?/? c.750C>T r.(=) p.(=) g.13601128C>T Copied from the Exome Variant Server SIRT5_000070 2/13006 1/8600 1/4406
?/? c.751G>A r.(?) p.(Val251Met) g.13601129G>A Copied from the Exome Variant Server SIRT5_000071 3/13006 2/8600 1/4406
?/? c.753G>T r.(=) p.(=) g.13601131G>T Copied from the Exome Variant Server SIRT5_000072 2/13006 0/8600 2/4406
?/? c.774G>A r.(=) p.(=) g.13601152G>A Copied from the Exome Variant Server SIRT5_000073 1/13006 1/8600 0/4406
?/? c.791C>T r.(?) p.(Thr264Met) g.13601169C>T Copied from the Exome Variant Server SIRT5_000074 6/13006 4/8600 2/4406
?/? c.801C>A r.(?) p.(Phe267Leu) g.13601179C>A Copied from the Exome Variant Server SIRT5_000075 132/13006 0/8600 132/4406
?/? c.803+12C>T r.(=) p.(=) g.13601193C>T Copied from the Exome Variant Server SIRT5_000076 4/13006 0/8600 4/4406
?/? c.803+3481T>A r.(=) p.(=) g.13604662T>A Copied from the Exome Variant Server SIRT5_000077 39/13006 0/8600 39/4406
?/? c.803+3484G>A r.(=) p.(=) g.13604665G>A Copied from the Exome Variant Server SIRT5_000078 1/13006 0/8600 1/4406
?/? c.803+3485C>A r.(=) p.(=) g.13604666C>A Copied from the Exome Variant Server SIRT5_000079 2/13006 2/8600 0/4406
?/? c.803+3491del r.(=) p.(=) g.13604672del Copied from the Exome Variant Server SIRT5_000080 109/12518 42/8254 67/4264
?/? c.803+3529A>T r.(=) p.(=) g.13604710A>T Copied from the Exome Variant Server SIRT5_000081 170/13006 161/8600 9/4406
?/? c.803+3533G>C r.(=) p.(=) g.13604714G>C Copied from the Exome Variant Server SIRT5_000082 2/13006 2/8600 0/4406
?/? c.803+3536C>G r.(=) p.(=) g.13604717C>G Copied from the Exome Variant Server SIRT5_000083 4/13006 3/8600 1/4406
?/? c.803+3537T>C r.(=) p.(=) g.13604718T>C Copied from the Exome Variant Server SIRT5_000084 2/13006 2/8600 0/4406
?/? c.803+3617G>A r.(=) p.(=) g.13604798G>A Copied from the Exome Variant Server SIRT5_000085 2/12968 0/8588 2/4380
?/? c.803+3631_803+3632del r.(=) p.(=) g.13604812_13604813del Copied from the Exome Variant Server SIRT5_000086 2/12448 1/8234 1/4214
?/? c.804-51A>G r.(=) p.(=) g.13611971A>G Copied from the Exome Variant Server SIRT5_000087 5/13006 1/8600 4/4406
?/? c.842A>G r.(?) p.(Glu281Gly) g.13612060A>G Copied from the Exome Variant Server SIRT5_000088 19/13006 0/8600 19/4406
?/? c.857A>G r.(?) p.(His286Arg) g.13612075A>G Copied from the Exome Variant Server SIRT5_000089 1/13006 1/8600 0/4406
?/? c.860A>G r.(?) p.(Glu287Gly) g.13612078A>G Copied from the Exome Variant Server SIRT5_000090 498/13006 444/8600 54/4406
?/? c.*18G>T r.(=) p.(=) g.13612115G>T Copied from the Exome Variant Server SIRT5_000091 47/13006 0/8600 47/4406
?/? c.*27G>C r.(=) p.(=) g.13612124G>C Copied from the Exome Variant Server SIRT5_000092 1/13006 0/8600 1/4406
?/? c.*35A>G r.(=) p.(=) g.13612132A>G Copied from the Exome Variant Server SIRT5_000093 2/13006 0/8600 2/4406
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