Unique variants in gene SLC35B3

Information The variants shown are described using the NM_015948.3 transcript reference sequence.

96 entries on 1 page. Showing entries 1 - 96.
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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.-38G>A r.(=) p.(=) g.8434658C>T Copied from the Exome Variant Server SLC35B3_000096 481/13006 4/8600 477/4406
1 c.-33A>C r.(=) p.(=) g.8434653T>G Copied from the Exome Variant Server SLC35B3_000095 481/13006 4/8600 477/4406
1 c.-30C>G r.(=) p.(=) g.8434650G>C Copied from the Exome Variant Server SLC35B3_000094 1/13006 1/8600 0/4406
1 c.-16_-15del r.(=) p.(=) g.8434635_8434636del Copied from the Exome Variant Server SLC35B3_000093 8/12518 8/8254 0/4264
1 c.-9C>T r.(=) p.(=) g.8434629G>A Copied from the Exome Variant Server SLC35B3_000092 1/13006 1/8600 0/4406
1 c.3+26G>T r.(=) p.(=) g.8434592C>A Copied from the Exome Variant Server SLC35B3_000091 481/13006 4/8600 477/4406
1 c.3+40A>G r.(=) p.(=) g.8434578T>C Copied from the Exome Variant Server SLC35B3_000090 1/13006 0/8600 1/4406
1 c.3+49del r.(=) p.(=) g.8434569del Copied from the Exome Variant Server SLC35B3_000089 185/12518 128/8254 57/4264
1 c.4-6C>T r.(=) p.(=) g.8430396G>A Copied from the Exome Variant Server SLC35B3_000088 118/13006 100/8600 18/4406
1 c.4-3T>C r.spl? p.? g.8430393A>G Copied from the Exome Variant Server SLC35B3_000087 3/13006 0/8600 3/4406
1 c.20C>T r.(?) p.(Ala7Val) g.8430374G>A Copied from the Exome Variant Server SLC35B3_000086 7/13006 7/8600 0/4406
1 c.56A>G r.(?) p.(Asn19Ser) g.8430338T>C Copied from the Exome Variant Server SLC35B3_000085 129/13006 2/8600 127/4406
1 c.68_69del r.(?) p.(Ser23*) g.8430325_8430326del Copied from the Exome Variant Server SLC35B3_000084 2/12518 0/8254 2/4264
1 c.80A>C r.(?) p.(Glu27Ala) g.8430314T>G Copied from the Exome Variant Server SLC35B3_000083 6/13006 6/8600 0/4406
1 c.159A>C r.(?) p.(Gln53His) g.8430235T>G Copied from the Exome Variant Server SLC35B3_000082 3/13006 0/8600 3/4406
1 c.190G>A r.(?) p.(Asp64Asn) g.8430204C>T Copied from the Exome Variant Server SLC35B3_000081 1/13006 0/8600 1/4406
1 c.193G>A r.(?) p.(Val65Ile) g.8430201C>T Copied from the Exome Variant Server SLC35B3_000080 5/13006 0/8600 5/4406
1 c.218G>T r.(?) p.(Ser73Ile) g.8430176C>A Copied from the Exome Variant Server SLC35B3_000079 1/13006 1/8600 0/4406
1 c.261A>C r.(=) p.(=) g.8430133T>G Copied from the Exome Variant Server SLC35B3_000078 9/13006 8/8600 1/4406
1 c.291T>C r.(=) p.(=) g.8430103A>G Copied from the Exome Variant Server SLC35B3_000077 1/12998 1/8594 0/4404
1 c.297+8_297+9insA r.(=) p.(=) g.8430088_8430089insT Copied from the Exome Variant Server SLC35B3_000076 5/12444 4/8218 1/4226
1 c.297+20G>A r.(=) p.(=) g.8430077C>T Copied from the Exome Variant Server SLC35B3_000075 1/12790 1/8498 0/4292
1 c.297+22A>C r.(=) p.(=) g.8430075T>G Copied from the Exome Variant Server SLC35B3_000074 3/12748 1/8474 2/4274
1 c.297+48C>T r.(=) p.(=) g.8430049G>A Copied from the Exome Variant Server SLC35B3_000073 5085/11526 2846/7744 2239/3782
1 c.298-48A>G r.(=) p.(=) g.8428339T>C Copied from the Exome Variant Server SLC35B3_000072 130/13006 0/8600 130/4406
1 c.298-42G>A r.(=) p.(=) g.8428333C>T Copied from the Exome Variant Server SLC35B3_000071 4/13006 0/8600 4/4406
1 c.298-23A>G r.(=) p.(=) g.8428314T>C Copied from the Exome Variant Server SLC35B3_000070 1/13006 0/8600 1/4406
1 c.323T>C r.(?) p.(Phe108Ser) g.8428266A>G Copied from the Exome Variant Server SLC35B3_000069 4/13006 4/8600 0/4406
1 c.332G>A r.(?) p.(Cys111Tyr) g.8428257C>T Copied from the Exome Variant Server SLC35B3_000068 1/13006 0/8600 1/4406
1 c.382C>T r.(=) p.(=) g.8428207G>A Copied from the Exome Variant Server SLC35B3_000067 5/13006 4/8600 1/4406
1 c.410A>G r.(?) p.(Lys137Arg) g.8428179T>C Copied from the Exome Variant Server SLC35B3_000066 12/13006 3/8600 9/4406
1 c.419+23T>G r.(=) p.(=) g.8428147A>C Copied from the Exome Variant Server SLC35B3_000065 4/13004 4/8598 0/4406
1 c.419+32_419+33insACT r.(=) p.(=) g.8428137_8428138insAGT Copied from the Exome Variant Server SLC35B3_000064 6439/12510 3436/8246 3003/4264
1 c.419+33_419+34insT r.(=) p.(=) g.8428136_8428137insA Copied from the Exome Variant Server SLC35B3_000063 6337/12506 3374/8246 2963/4260
1 c.420-49A>G r.(=) p.(=) g.8422906T>C Copied from the Exome Variant Server SLC35B3_000062 3/13002 3/8600 0/4402
1 c.420-22T>C r.(=) p.(=) g.8422879A>G Copied from the Exome Variant Server SLC35B3_000061 2/13006 1/8600 1/4406
1 c.425del r.(?) p.(Pro142Glnfs*6) g.8422852del Copied from the Exome Variant Server SLC35B3_000060 1/12518 1/8254 0/4264
1 c.489C>T r.(=) p.(=) g.8422788G>A Copied from the Exome Variant Server SLC35B3_000059 1/13006 0/8600 1/4406
1 c.553C>T r.(=) p.(=) g.8422724G>A Copied from the Exome Variant Server SLC35B3_000058 11/13006 9/8600 2/4406
1 c.574+9A>G r.(=) p.(=) g.8422694T>C Copied from the Exome Variant Server SLC35B3_000057 41/13006 38/8600 3/4406
1 c.574+31A>G r.(=) p.(=) g.8422672T>C Copied from the Exome Variant Server SLC35B3_000055 1/13002 1/8596 0/4406
1 c.574+46T>C r.(=) p.(=) g.8422657A>G Copied from the Exome Variant Server SLC35B3_000053 2/12998 2/8594 0/4404
1 c.575-49C>G r.(=) p.(=) g.8421110G>C Copied from the Exome Variant Server SLC35B3_000051 1/13006 1/8600 0/4406
1 c.575-43G>C r.(=) p.(=) g.8421104C>G Copied from the Exome Variant Server SLC35B3_000049 16/13006 0/8600 16/4406
1 c.575-37T>C r.(=) p.(=) g.8421098A>G Copied from the Exome Variant Server SLC35B3_000047 1/13006 1/8600 0/4406
1 c.575-17_575-16insA r.(=) p.(=) g.8421077_8421078insT Copied from the Exome Variant Server SLC35B3_000045 3/12518 3/8254 0/4264
1 c.575-16del r.(=) p.(=) g.8421077del Copied from the Exome Variant Server SLC35B3_000056 1/12518 1/8254 0/4264
1 c.576A>T r.(=) p.(=) g.8421060T>A Copied from the Exome Variant Server SLC35B3_000054 131/13006 0/8600 131/4406
1 c.681G>C r.(=) p.(=) g.8420955C>G Copied from the Exome Variant Server SLC35B3_000052 1/13006 1/8600 0/4406
1 c.682+9T>G r.(=) p.(=) g.8420945A>C Copied from the Exome Variant Server SLC35B3_000050 1/13006 1/8600 0/4406
1 c.682+7_682+10del r.(=) p.(=) g.8420944_8420947del Copied from the Exome Variant Server SLC35B3_000048 28/12518 23/8254 5/4264
1 c.683-23G>T r.(=) p.(=) g.8419933C>A Copied from the Exome Variant Server SLC35B3_000046 30/13000 0/8596 30/4404
1 c.751A>G r.(?) p.(Lys251Glu) g.8419842T>C Copied from the Exome Variant Server SLC35B3_000044 2/13004 2/8598 0/4406
1 c.780+21_780+22insT r.(=) p.(=) g.8419791_8419792insA Copied from the Exome Variant Server SLC35B3_000043 8/12510 0/8246 8/4264
1 c.781-51C>A r.(=) p.(=) g.8417778G>T Copied from the Exome Variant Server SLC35B3_000042 12/12986 0/8590 12/4396
1 c.781-36T>C r.(=) p.(=) g.8417763A>G Copied from the Exome Variant Server SLC35B3_000041 1/12994 1/8590 0/4404
1 c.781-34G>A r.(=) p.(=) g.8417761C>T Copied from the Exome Variant Server SLC35B3_000040 182/12994 1/8590 181/4404
1 c.781-8T>G r.(=) p.(=) g.8417735A>C Copied from the Exome Variant Server SLC35B3_000039 1/12994 1/8590 0/4404
1 c.789T>C r.(=) p.(=) g.8417719A>G Copied from the Exome Variant Server SLC35B3_000038 1/12996 0/8590 1/4406
1 c.813C>T r.(=) p.(=) g.8417695G>A Copied from the Exome Variant Server SLC35B3_000037 33/12998 0/8592 33/4406
1 c.821T>C r.(?) p.(Leu274Pro) g.8417687A>G Copied from the Exome Variant Server SLC35B3_000036 2/12998 2/8592 0/4406
1 c.869C>T r.(?) p.(Ala290Val) g.8417639G>A Copied from the Exome Variant Server SLC35B3_000035 1/12996 0/8592 1/4404
1 c.873+20A>T r.(=) p.(=) g.8417615T>A Copied from the Exome Variant Server SLC35B3_000034 27/12984 0/8582 27/4402
1 c.873+29del r.(=) p.(=) g.8417606del Copied from the Exome Variant Server SLC35B3_000033 822/12482 524/8230 298/4252
1 c.873+29_873+30del r.(=) p.(=) g.8417605_8417606del Copied from the Exome Variant Server SLC35B3_000032 57/12482 19/8230 38/4252
1 c.874-47C>T r.(=) p.(=) g.8417275G>A Copied from the Exome Variant Server SLC35B3_000031 1/12918 1/8548 0/4370
1 c.874-46G>T r.(=) p.(=) g.8417274C>A Copied from the Exome Variant Server SLC35B3_000030 1/12942 1/8564 0/4378
1 c.874-5_874-4insT r.spl? p.? g.8417232_8417233insA Copied from the Exome Variant Server SLC35B3_000029 14/12506 1/8248 13/4258
1 c.896A>T r.(?) p.(Tyr299Phe) g.8417206T>A Copied from the Exome Variant Server SLC35B3_000028 1/13006 1/8600 0/4406
1 c.904C>A r.(?) p.(Leu302Ile) g.8417198G>T Copied from the Exome Variant Server SLC35B3_000027 11/13006 10/8600 1/4406
1 c.924T>C r.(=) p.(=) g.8417178A>G Copied from the Exome Variant Server SLC35B3_000026 1/13004 0/8598 1/4406
1 c.951G>C r.(?) p.(Leu317Phe) g.8417151C>G Copied from the Exome Variant Server SLC35B3_000025 1/13004 0/8598 1/4406
1 c.985+37C>T r.(=) p.(=) g.8417080G>A Copied from the Exome Variant Server SLC35B3_000024 1/13000 1/8596 0/4404
1 c.985+44A>G r.(=) p.(=) g.8417073T>C Copied from the Exome Variant Server SLC35B3_000023 1/12996 1/8596 0/4400
1 c.986-19T>C r.(=) p.(=) g.8415229A>G Copied from the Exome Variant Server SLC35B3_000022 1/13002 1/8598 0/4404
1 c.986-15T>A r.(=) p.(=) g.8415225A>T Copied from the Exome Variant Server SLC35B3_000021 1/13002 1/8598 0/4404
1 c.998G>T r.(?) p.(Arg333Ile) g.8415198C>A Copied from the Exome Variant Server SLC35B3_000020 1/13002 1/8598 0/4404
1 c.1015G>A r.(?) p.(Val339Ile) g.8415181C>T Copied from the Exome Variant Server SLC35B3_000019 1/13002 1/8598 0/4404
1 c.1017A>C r.(=) p.(=) g.8415179T>G Copied from the Exome Variant Server SLC35B3_000018 2/13002 0/8598 2/4404
1 c.1022C>T r.(?) p.(Ser341Leu) g.8415174G>A Copied from the Exome Variant Server SLC35B3_000017 1/13002 1/8598 0/4404
1 c.1023G>A r.(=) p.(=) g.8415173C>T Copied from the Exome Variant Server SLC35B3_000016 1/13002 1/8598 0/4404
1 c.1050G>A r.(=) p.(=) g.8415146C>T Copied from the Exome Variant Server SLC35B3_000015 1/13000 0/8598 1/4402
1 c.1055+12T>C r.(=) p.(=) g.8415129A>G Copied from the Exome Variant Server SLC35B3_000014 1/13002 0/8600 1/4402
1 c.1055+16_1055+19del r.(=) p.(=) g.8415122_8415125del Copied from the Exome Variant Server SLC35B3_000013 40/12508 28/8250 12/4258
1 c.1056-3T>C r.spl? p.? g.8413935A>G Copied from the Exome Variant Server SLC35B3_000012 22/12982 0/8582 22/4400
1 c.1074G>C r.(?) p.(Leu358Phe) g.8413914C>G Copied from the Exome Variant Server SLC35B3_000011 2/12992 0/8590 2/4402
1 c.1098T>C r.(=) p.(=) g.8413890A>G Copied from the Exome Variant Server SLC35B3_000010 4958/13000 2071/8596 2887/4404
1 c.1128A>G r.(?) p.(Ile376Met) g.8413860T>C Copied from the Exome Variant Server SLC35B3_000009 1/13000 1/8596 0/4404
1 c.1135C>T r.(?) p.(Pro379Ser) g.8413853G>A Copied from the Exome Variant Server SLC35B3_000008 9/13006 8/8600 1/4406
1 c.1138T>C r.(?) p.(Ser380Pro) g.8413850A>G Copied from the Exome Variant Server SLC35B3_000007 88/13006 0/8600 88/4406
1 c.1152G>C r.(?) p.(Leu384Phe) g.8413836C>G Copied from the Exome Variant Server SLC35B3_000006 6/13006 6/8600 0/4406
1 c.1160A>C r.(?) p.(Lys387Thr) g.8413828T>G Copied from the Exome Variant Server SLC35B3_000005 1/13006 1/8600 0/4406
1 c.1181C>T r.(?) p.(Ser394Leu) g.8413807G>A Copied from the Exome Variant Server SLC35B3_000004 1/13004 1/8598 0/4406
1 c.*3A>G r.(=) p.(=) g.8413779T>C Copied from the Exome Variant Server SLC35B3_000003 130/13004 0/8598 130/4406
1 c.*19A>C r.(=) p.(=) g.8413763T>G Copied from the Exome Variant Server SLC35B3_000002 1/12998 0/8596 1/4402
1 c.*41A>G r.(=) p.(=) g.8413741T>C Copied from the Exome Variant Server SLC35B3_000001 1/13000 0/8598 1/4402
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