Unique variants in gene SLC2A12

Information The variants shown are described using the NM_145176.2 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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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.-22C>A r.(=) p.(=) g.134373640G>T Copied from the Exome Variant Server SLC2A12_000088 153/13006 5/8600 148/4406
1 c.4G>A r.(?) p.(Val2Ile) g.134373615C>T Copied from the Exome Variant Server SLC2A12_000086 1/13006 1/8600 0/4406
1 c.32G>A r.(?) p.(Ser11Asn) g.134373587C>T Copied from the Exome Variant Server SLC2A12_000084 1/13006 0/8600 1/4406
1 c.37C>T r.(=) p.(=) g.134373582G>A Copied from the Exome Variant Server SLC2A12_000097 7/13006 1/8600 6/4406
1 c.97G>A r.(?) p.(Ala33Thr) g.134373522C>T Copied from the Exome Variant Server SLC2A12_000096 1/13006 1/8600 0/4406
1 c.101G>C r.(?) p.(Arg34Thr) g.134373518C>G Copied from the Exome Variant Server SLC2A12_000095 1/13006 1/8600 0/4406
1 c.103+14G>T r.(=) p.(=) g.134373502C>A Copied from the Exome Variant Server SLC2A12_000094 3/13006 3/8600 0/4406
1 c.104-35G>A r.(=) p.(=) g.134350894C>T Copied from the Exome Variant Server SLC2A12_000093 1/12790 1/8444 0/4346
1 c.104-12C>T r.(=) p.(=) g.134350871G>A Copied from the Exome Variant Server SLC2A12_000092 15/12918 3/8542 12/4376
1 c.108C>T r.(=) p.(=) g.134350855G>A Copied from the Exome Variant Server SLC2A12_000091 1/12968 0/8572 1/4396
1 c.137C>T r.(?) p.(Thr46Ile) g.134350826G>A Copied from the Exome Variant Server SLC2A12_000090 1/13006 1/8600 0/4406
1 c.186T>C r.(=) p.(=) g.134350777A>G Copied from the Exome Variant Server SLC2A12_000089 1/13006 0/8600 1/4406
1 c.219C>T r.(=) p.(=) g.134350744G>A Copied from the Exome Variant Server SLC2A12_000087 1/13006 0/8600 1/4406
1 c.256C>T r.(?) p.(Leu86Phe) g.134350707G>A Copied from the Exome Variant Server SLC2A12_000085 1/13006 1/8600 0/4406
1 c.259G>A r.(?) p.(Val87Ile) g.134350704C>T Copied from the Exome Variant Server SLC2A12_000083 2/13006 0/8600 2/4406
1 c.274C>T r.(?) p.(Leu92Phe) g.134350689G>A Copied from the Exome Variant Server SLC2A12_000082 1/13006 0/8600 1/4406
1 c.307A>G r.(?) p.(Arg103Gly) g.134350656T>C Copied from the Exome Variant Server SLC2A12_000081 173/13006 6/8600 167/4406
1 c.310T>C r.(?) p.(Tyr104His) g.134350653A>G Copied from the Exome Variant Server SLC2A12_000080 1/13006 1/8600 0/4406
1 c.316A>C r.(=) p.(=) g.134350647T>G Copied from the Exome Variant Server SLC2A12_000079 109/13006 0/8600 109/4406
1 c.390C>T r.(=) p.(=) g.134350573G>A Copied from the Exome Variant Server SLC2A12_000078 9/13006 0/8600 9/4406
1 c.430A>G r.(?) p.(Ile144Val) g.134350533T>C Copied from the Exome Variant Server SLC2A12_000077 1/13006 0/8600 1/4406
1 c.432C>T r.(=) p.(=) g.134350531G>A Copied from the Exome Variant Server SLC2A12_000074 6/13006 0/8600 6/4406
1 c.465C>T r.(=) p.(=) g.134350498G>A Copied from the Exome Variant Server SLC2A12_000073 1/13006 0/8600 1/4406
1 c.495C>G r.(=) p.(=) g.134350468G>C Copied from the Exome Variant Server SLC2A12_000071 3/13006 3/8600 0/4406
1 c.510G>T r.(=) p.(=) g.134350453C>A Copied from the Exome Variant Server SLC2A12_000069 1/13006 1/8600 0/4406
1 c.511A>T r.(?) p.(Asn171Tyr) g.134350452T>A Copied from the Exome Variant Server SLC2A12_000067 1/13006 1/8600 0/4406
1 c.531C>T r.(=) p.(=) g.134350432G>A Copied from the Exome Variant Server SLC2A12_000065 2/13006 1/8600 1/4406
1 c.538del r.(?) p.(Leu180Phefs*24) g.134350425del Copied from the Exome Variant Server SLC2A12_000063 1/12518 1/8254 0/4264
1 c.549T>C r.(=) p.(=) g.134350414A>G Copied from the Exome Variant Server SLC2A12_000076 1/13006 1/8600 0/4406
1 c.561C>T r.(=) p.(=) g.134350402G>A Copied from the Exome Variant Server SLC2A12_000075 5/13006 0/8600 5/4406
1 c.562G>A r.(?) p.(Ala188Thr) g.134350401C>T Copied from the Exome Variant Server SLC2A12_000072 1/13006 0/8600 1/4406
1 c.598T>C r.(?) p.(Phe200Leu) g.134350365A>G Copied from the Exome Variant Server SLC2A12_000070 1/13006 0/8600 1/4406
1 c.615C>G r.(=) p.(=) g.134350348G>C Copied from the Exome Variant Server SLC2A12_000068 1/13006 0/8600 1/4406
1 c.623T>C r.(?) p.(Val208Ala) g.134350340A>G Copied from the Exome Variant Server SLC2A12_000066 1/13006 1/8600 0/4406
1 c.664C>T r.(?) p.(Arg222Trp) g.134350299G>A Copied from the Exome Variant Server SLC2A12_000064 1/13006 1/8600 0/4406
1 c.673G>T r.(?) p.(Val225Leu) g.134350290C>A Copied from the Exome Variant Server SLC2A12_000062 1/13006 1/8600 0/4406
1 c.684A>G r.(=) p.(=) g.134350279T>C Copied from the Exome Variant Server SLC2A12_000061 1/13006 1/8600 0/4406
1 c.690G>A r.(=) p.(=) g.134350273C>T Copied from the Exome Variant Server SLC2A12_000060 1/13006 1/8600 0/4406
1 c.752C>T r.(?) p.(Thr251Ile) g.134350211G>A Copied from the Exome Variant Server SLC2A12_000059 1/13006 1/8600 0/4406
1 c.780A>G r.(=) p.(=) g.134350183T>C Copied from the Exome Variant Server SLC2A12_000058 1/13006 0/8600 1/4406
1 c.824T>C r.(?) p.(Met275Thr) g.134350139A>G Copied from the Exome Variant Server SLC2A12_000057 1/13006 1/8600 0/4406
1 c.826C>T r.(?) p.(Arg276Trp) g.134350137G>A Copied from the Exome Variant Server SLC2A12_000056 1/13006 1/8600 0/4406
1 c.827G>A r.(?) p.(Arg276Gln) g.134350136C>T Copied from the Exome Variant Server SLC2A12_000055 1/13006 0/8600 1/4406
1 c.864T>C r.(=) p.(=) g.134350099A>G Copied from the Exome Variant Server SLC2A12_000054 1/13006 1/8600 0/4406
1 c.888C>T r.(=) p.(=) g.134350075G>A Copied from the Exome Variant Server SLC2A12_000053 2/13006 0/8600 2/4406
1 c.900T>C r.(=) p.(=) g.134350063A>G Copied from the Exome Variant Server SLC2A12_000052 1/13006 0/8600 1/4406
1 c.942G>A r.(=) p.(=) g.134350021C>T Copied from the Exome Variant Server SLC2A12_000051 2/13006 0/8600 2/4406
1 c.976G>A r.(?) p.(Val326Ile) g.134349987C>T Copied from the Exome Variant Server SLC2A12_000050 1/13006 1/8600 0/4406
1 c.996C>T r.(=) p.(=) g.134349967G>A Copied from the Exome Variant Server SLC2A12_000049 23/13006 0/8600 23/4406
1 c.1024G>A r.(?) p.(Gly342Ser) g.134349939C>T Copied from the Exome Variant Server SLC2A12_000048 1/13006 1/8600 0/4406
1 c.1026C>T r.(=) p.(=) g.134349937G>A Copied from the Exome Variant Server SLC2A12_000047 1/13006 1/8600 0/4406
1 c.1049del r.(?) p.(Gly350Alafs*4) g.134349914del Copied from the Exome Variant Server SLC2A12_000046 2/12518 2/8254 0/4264
1 c.1066G>T r.(?) p.(Ala356Ser) g.134349897C>A Copied from the Exome Variant Server SLC2A12_000045 1/13006 1/8600 0/4406
1 c.1071G>A r.(=) p.(=) g.134349892C>T Copied from the Exome Variant Server SLC2A12_000044 1/13006 1/8600 0/4406
1 c.1087A>C r.(?) p.(Ile363Leu) g.134349876T>G Copied from the Exome Variant Server SLC2A12_000043 1/13006 0/8600 1/4406
1 c.1089C>T r.(=) p.(=) g.134349874G>A Copied from the Exome Variant Server SLC2A12_000042 1/13006 1/8600 0/4406
1 c.1090G>A r.(?) p.(Val364Ile) g.134349873C>T Copied from the Exome Variant Server SLC2A12_000041 2/13006 2/8600 0/4406
1 c.1106A>G r.(?) p.(His369Arg) g.134349857T>C Copied from the Exome Variant Server SLC2A12_000040 2/13006 0/8600 2/4406
1 c.1158G>T r.(?) p.(Leu386Phe) g.134349805C>A Copied from the Exome Variant Server SLC2A12_000039 1/13006 0/8600 1/4406
1 c.1169T>C r.(?) p.(Val390Ala) g.134349794A>G Copied from the Exome Variant Server SLC2A12_000038 2/13006 0/8600 2/4406
1 c.1224C>T r.(=) p.(=) g.134349739G>A Copied from the Exome Variant Server SLC2A12_000037 1/13006 0/8600 1/4406
1 c.1240C>T r.(?) p.(His414Tyr) g.134349723G>A Copied from the Exome Variant Server SLC2A12_000036 1/13006 0/8600 1/4406
1 c.1268G>T r.(?) p.(Arg423Ile) g.134349695C>A Copied from the Exome Variant Server SLC2A12_000035 1/13006 1/8600 0/4406
1 c.1295C>T r.(?) p.(Thr432Met) g.134349668G>A Copied from the Exome Variant Server SLC2A12_000034 1/13006 1/8600 0/4406
1 c.1296G>A r.(=) p.(=) g.134349667C>T Copied from the Exome Variant Server SLC2A12_000032 1/13006 1/8600 0/4406
1 c.1334C>G r.(?) p.(Thr445Ser) g.134349629G>C Copied from the Exome Variant Server SLC2A12_000031 1/13006 1/8600 0/4406
1 c.1390T>C r.(?) p.(Ser464Pro) g.134349573A>G Copied from the Exome Variant Server SLC2A12_000029 1/13006 0/8600 1/4406
1 c.1408G>A r.(?) p.(Val470Ile) g.134349555C>T Copied from the Exome Variant Server SLC2A12_000027 1/13006 1/8600 0/4406
1 c.1430T>C r.(?) p.(Ile477Thr) g.134349533A>G Copied from the Exome Variant Server SLC2A12_000025 2/13006 1/8600 1/4406
1 c.1444+25T>C r.(=) p.(=) g.134349494A>G Copied from the Exome Variant Server SLC2A12_000023 2/13006 0/8600 2/4406
1 c.1444+37A>G r.(=) p.(=) g.134349482T>C Copied from the Exome Variant Server SLC2A12_000021 2/13006 2/8600 0/4406
1 c.1444+45C>T r.(=) p.(=) g.134349474G>A Copied from the Exome Variant Server SLC2A12_000019 4/13006 0/8600 4/4406
1 c.1444+48C>T r.(=) p.(=) g.134349471G>A Copied from the Exome Variant Server SLC2A12_000017 1/13006 1/8600 0/4406
1 c.1445-27C>T r.(=) p.(=) g.134328099G>A Copied from the Exome Variant Server SLC2A12_000015 34/13006 1/8600 33/4406
1 c.1445-2A>G r.spl? p.? g.134328074T>C Copied from the Exome Variant Server SLC2A12_000013 1/13006 0/8600 1/4406
1 c.1464C>T r.(=) p.(=) g.134328053G>A Copied from the Exome Variant Server SLC2A12_000011 1/13006 1/8600 0/4406
1 c.1567+26T>C r.(=) p.(=) g.134327924A>G Copied from the Exome Variant Server SLC2A12_000009 8/13006 6/8600 2/4406
1 c.1570C>T r.(?) p.(Leu524Phe) g.134323265G>A Copied from the Exome Variant Server SLC2A12_000007 2/13006 2/8600 0/4406
1 c.1578C>A r.(=) p.(=) g.134323257G>T Copied from the Exome Variant Server SLC2A12_000033 2/13006 0/8600 2/4406
1 c.1700+25T>C r.(=) p.(=) g.134323110A>G Copied from the Exome Variant Server SLC2A12_000030 1/13006 1/8600 0/4406
1 c.1700+41G>A r.(=) p.(=) g.134323094C>T Copied from the Exome Variant Server SLC2A12_000028 2/13006 2/8600 0/4406
1 c.1700+48G>A r.(=) p.(=) g.134323087C>T Copied from the Exome Variant Server SLC2A12_000026 5/13006 0/8600 5/4406
1 c.1701-49_1701-48insT r.(=) p.(=) g.134312494_134312495insA Copied from the Exome Variant Server SLC2A12_000024 2/12504 2/8252 0/4252
1 c.1701-31A>G r.(=) p.(=) g.134312477T>C Copied from the Exome Variant Server SLC2A12_000022 17/13006 0/8600 17/4406
1 c.1701-16C>T r.(=) p.(=) g.134312462G>A Copied from the Exome Variant Server SLC2A12_000020 1/13006 1/8600 0/4406
1 c.1701-11_1701-10del r.(=) p.(=) g.134312456_134312457del Copied from the Exome Variant Server SLC2A12_000018 8/12504 8/8254 0/4250
1 c.1718_1720del r.(?) p.(Asn573del) g.134312427_134312429del Copied from the Exome Variant Server SLC2A12_000016 1/12504 1/8254 0/4250
1 c.1728T>C r.(=) p.(=) g.134312419A>G Copied from the Exome Variant Server SLC2A12_000014 1/13006 1/8600 0/4406
1 c.1727_1737del r.(?) p.(Phe576Serfs*23) g.134312410_134312420del Copied from the Exome Variant Server SLC2A12_000012 1/12504 0/8254 1/4250
1 c.1756C>T r.(?) p.(Pro586Ser) g.134312391G>A Copied from the Exome Variant Server SLC2A12_000010 2/13006 2/8600 0/4406
1 c.1800G>A r.(=) p.(=) g.134312347C>T Copied from the Exome Variant Server SLC2A12_000008 1/13006 1/8600 0/4406
1 c.1805A>G r.(?) p.(Asn602Ser) g.134312342T>C Copied from the Exome Variant Server SLC2A12_000006 1/13006 0/8600 1/4406
1 c.1851C>T r.(=) p.(=) g.134312296G>A Copied from the Exome Variant Server SLC2A12_000005 1/13006 1/8600 0/4406
1 c.*22G>C r.(=) p.(=) g.134312271C>G Copied from the Exome Variant Server SLC2A12_000004 477/13006 5/8600 472/4406
1 c.*30T>C r.(=) p.(=) g.134312263A>G Copied from the Exome Variant Server SLC2A12_000003 1/13006 0/8600 1/4406
1 c.*45G>A r.(=) p.(=) g.134312248C>T Copied from the Exome Variant Server SLC2A12_000002 1/13006 0/8600 1/4406
1 c.*46A>G r.(=) p.(=) g.134312247T>C Copied from the Exome Variant Server SLC2A12_000001 9/13006 0/8600 9/4406
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