All transcript variants in gene SREK1

Information The variants shown are described using the NM_001077199.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-15G>C r.(=) p.(=) g.65440190G>C Copied from the Exome Variant Server SREK1_000001 5/10774 3/7330 2/3444
?/? c.135C>T r.(=) p.(=) g.65440339C>T Copied from the Exome Variant Server SREK1_000002 64/11386 1/7854 63/3532
?/? c.162-27T>C r.(=) p.(=) g.65449264T>C Copied from the Exome Variant Server SREK1_000003 1/11840 1/8172 0/3668
?/? c.162-24A>C r.(=) p.(=) g.65449267A>C Copied from the Exome Variant Server SREK1_000004 128/11862 1/8186 127/3676
?/? c.162-23T>C r.(=) p.(=) g.65449268T>C Copied from the Exome Variant Server SREK1_000005 1/11866 0/8186 1/3680
?/? c.198T>C r.(=) p.(=) g.65449327T>C Copied from the Exome Variant Server SREK1_000006 1/12002 0/8230 1/3772
?/? c.216A>G r.(=) p.(=) g.65449345A>G Copied from the Exome Variant Server SREK1_000007 1/11996 0/8230 1/3766
?/? c.229G>A r.(?) p.(Val77Met) g.65449358G>A Copied from the Exome Variant Server SREK1_000008 1/12016 0/8238 1/3778
?/? c.251C>T r.(?) p.(Thr84Met) g.65449380C>T Copied from the Exome Variant Server SREK1_000009 1/11984 0/8236 1/3748
?/? c.295+14T>C r.(=) p.(=) g.65449438T>C Copied from the Exome Variant Server SREK1_000010 1/11886 0/8210 1/3676
?/? c.296-20T>C r.(=) p.(=) g.65455027T>C Copied from the Exome Variant Server SREK1_000011 4/13006 4/8600 0/4406
?/? c.296-3C>T r.spl? p.? g.65455044C>T Copied from the Exome Variant Server SREK1_000012 1/13006 1/8600 0/4406
?/? c.352A>T r.(?) p.(Thr118Ser) g.65455103A>T Copied from the Exome Variant Server SREK1_000013 1/13006 1/8600 0/4406
?/? c.390G>A r.(=) p.(=) g.65455141G>A Copied from the Exome Variant Server SREK1_000014 141/13006 122/8600 19/4406
?/? c.411+45G>C r.(=) p.(=) g.65455207G>C Copied from the Exome Variant Server SREK1_000015 85/13006 79/8600 6/4406
?/? c.412-5G>A r.spl? p.? g.65457932G>A Copied from the Exome Variant Server SREK1_000016 2/13006 2/8600 0/4406
?/? c.577-52T>C r.(=) p.(=) g.65458190T>C Copied from the Exome Variant Server SREK1_000017 28/5734 0/3982 28/1752
?/? c.577-6C>T r.(=) p.(=) g.65458236C>T Copied from the Exome Variant Server SREK1_000019 2/13006 0/8600 2/4406
?/? c.624A>G r.(=) p.(=) g.65458289A>G Copied from the Exome Variant Server SREK1_000021 1/13006 1/8600 0/4406
?/? c.702T>G r.(=) p.(=) g.65458367T>G Copied from the Exome Variant Server SREK1_000023 1/13006 1/8600 0/4406
?/? c.755+46A>G r.(=) p.(=) g.65458466A>G Copied from the Exome Variant Server SREK1_000026 1/12866 1/8536 0/4330
?/? c.756-48T>G r.(=) p.(=) g.65459572T>G Copied from the Exome Variant Server SREK1_000028 3/12976 0/8584 3/4392
?/? c.792T>A r.(=) p.(=) g.65459656T>A Copied from the Exome Variant Server SREK1_000029 1/13006 1/8600 0/4406
?/? c.795G>A r.(=) p.(=) g.65459659G>A Copied from the Exome Variant Server SREK1_000018 2/13006 0/8600 2/4406
?/? c.886+13C>T r.(=) p.(=) g.65459763C>T Copied from the Exome Variant Server SREK1_000020 1/13006 1/8600 0/4406
?/? c.886+23T>C r.(=) p.(=) g.65459773T>C Copied from the Exome Variant Server SREK1_000022 1475/13006 1099/8600 376/4406
?/? c.886+28C>A r.(=) p.(=) g.65459778C>A Copied from the Exome Variant Server SREK1_000024 1/13006 1/8600 0/4406
?/? c.887-4C>T r.spl? p.? g.65460607C>T Copied from the Exome Variant Server SREK1_000025 1/13006 0/8600 1/4406
?/? c.926G>A r.(?) p.(Arg309His) g.65460650G>A Copied from the Exome Variant Server SREK1_000027 1/13006 1/8600 0/4406
?/? c.937C>T r.(?) p.(Arg313Cys) g.65460661C>T Copied from the Exome Variant Server SREK1_000030 1/13006 1/8600 0/4406
?/? c.963A>G r.(=) p.(=) g.65460687A>G Copied from the Exome Variant Server SREK1_000031 1/13006 0/8600 1/4406
?/? c.1002-17C>G r.(=) p.(=) g.65465862C>G Copied from the Exome Variant Server SREK1_000032 1/12990 0/8596 1/4394
?/? c.1032A>G r.(=) p.(=) g.65465909A>G Copied from the Exome Variant Server SREK1_000033 2/13006 0/8600 2/4406
?/? c.1094G>A r.(?) p.(Arg365Gln) g.65465971G>A Copied from the Exome Variant Server SREK1_000034 8/13006 0/8600 8/4406
?/? c.1109G>A r.(?) p.(Arg370His) g.65465986G>A Copied from the Exome Variant Server SREK1_000035 17/13006 1/8600 16/4406
?/? c.1120C>A r.(=) p.(=) g.65465997C>A Copied from the Exome Variant Server SREK1_000036 3/13006 0/8600 3/4406
?/? c.1121+26_1121+27insT r.(=) p.(=) g.65466024_65466025insT Copied from the Exome Variant Server SREK1_000037 38/12450 24/8244 14/4206
?/? c.1121+29_1121+30insC r.(=) p.(=) g.65466027_65466028insC Copied from the Exome Variant Server SREK1_000038 1/12470 1/8248 0/4222
?/? c.1121+47T>C r.(=) p.(=) g.65466045T>C Copied from the Exome Variant Server SREK1_000039 250/12838 224/8554 26/4284
?/? c.1121+49del r.(=) p.(=) g.65466047del Copied from the Exome Variant Server SREK1_000040 1/12290 1/8200 0/4090
?/? c.1122-43A>G r.(=) p.(=) g.65466370A>G Copied from the Exome Variant Server SREK1_000041 3/12170 3/8184 0/3986
?/? c.1122-24_1122-21del r.(=) p.(=) g.65466389_65466392del Copied from the Exome Variant Server SREK1_000042 19/11788 11/7888 8/3900
?/? c.1152C>G r.(?) p.(Ile384Met) g.65466443C>G Copied from the Exome Variant Server SREK1_000043 2/13000 0/8598 2/4402
?/? c.1199A>G r.(?) p.(Glu400Gly) g.65466490A>G Copied from the Exome Variant Server SREK1_000044 1/13006 1/8600 0/4406
?/? c.1235G>A r.(?) p.(Gly412Asp) g.65466526G>A Copied from the Exome Variant Server SREK1_000045 2/13004 1/8598 1/4406
?/? c.1283_1284insT r.(?) p.(Lys429Glnfs*14) g.65466574_65466575insT Copied from the Exome Variant Server SREK1_000046 110/12508 71/8246 39/4262
?/? c.1288G>T r.(?) p.(Glu430*) g.65466579G>T Copied from the Exome Variant Server SREK1_000047 1/13000 1/8596 0/4404
?/? c.1289A>T r.(?) p.(Glu430Val) g.65466580A>T Copied from the Exome Variant Server SREK1_000048 1/13002 1/8598 0/4404
?/? c.1296C>A r.(?) p.(Asp432Glu) g.65466587C>A Copied from the Exome Variant Server SREK1_000049 9/13000 9/8596 0/4404
?/? c.1306G>T r.(?) p.(Glu436*) g.65466597G>T Copied from the Exome Variant Server SREK1_000050 1/13002 1/8596 0/4406
?/? c.1309C>T r.(?) p.(Arg437Trp) g.65466600C>T Copied from the Exome Variant Server SREK1_000051 8/13004 8/8598 0/4406
?/? c.1394A>C r.(?) p.(Lys465Thr) g.65466685A>C Copied from the Exome Variant Server SREK1_000052 1/13006 0/8600 1/4406
?/? c.1400T>C r.(?) p.(Ile467Thr) g.65466691T>C Copied from the Exome Variant Server SREK1_000053 1/13006 1/8600 0/4406
?/? c.1458A>G r.(=) p.(=) g.65466749A>G Copied from the Exome Variant Server SREK1_000054 1/13004 1/8600 0/4404
?/? c.1461G>A r.(=) p.(=) g.65466752G>A Copied from the Exome Variant Server SREK1_000055 1/13004 1/8600 0/4404
?/? c.1466G>T r.(?) p.(Arg489Ile) g.65466757G>T Copied from the Exome Variant Server SREK1_000056 1/13004 1/8600 0/4404
?/? c.1471C>T r.(?) p.(Arg491Cys) g.65466762C>T Copied from the Exome Variant Server SREK1_000057 3/13004 2/8600 1/4404
?/? c.1472G>A r.(?) p.(Arg491His) g.65466763G>A Copied from the Exome Variant Server SREK1_000058 1/13004 1/8600 0/4404
?/? c.1485-19A>T r.(=) p.(=) g.65470755A>T Copied from the Exome Variant Server SREK1_000059 5/13006 4/8600 1/4406
?/? c.1524G>T r.(=) p.(=) g.65470813G>T Copied from the Exome Variant Server SREK1_000060 1/13006 1/8600 0/4406
?/? c.1580+48A>G r.(=) p.(=) g.65470917A>G Copied from the Exome Variant Server SREK1_000061 1/12976 1/8588 0/4388
?/? c.1580+49T>C r.(=) p.(=) g.65470918T>C Copied from the Exome Variant Server SREK1_000062 1/12970 1/8582 0/4388
?/? c.1581-41C>T r.(=) p.(=) g.65473301C>T Copied from the Exome Variant Server SREK1_000063 4/12774 3/8502 1/4272
?/? c.1635A>G r.(=) p.(=) g.65473396A>G Copied from the Exome Variant Server SREK1_000064 5/13006 3/8600 2/4406
?/? c.1648C>T r.(?) p.(Arg550Cys) g.65473409C>T Copied from the Exome Variant Server SREK1_000065 1/13006 0/8600 1/4406
?/? c.1656G>A r.(=) p.(=) g.65473417G>A Copied from the Exome Variant Server SREK1_000066 32/13006 0/8600 32/4406
?/? c.1684G>A r.(?) p.(Asp562Asn) g.65473445G>A Copied from the Exome Variant Server SREK1_000067 2/13006 0/8600 2/4406
?/? c.1687G>T r.(?) p.(Gly563Trp) g.65473448G>T Copied from the Exome Variant Server SREK1_000068 1/13006 1/8600 0/4406
?/? c.1720C>T r.(?) p.(Leu574Phe) g.65473481C>T Copied from the Exome Variant Server SREK1_000069 2/13006 2/8600 0/4406
?/? c.1726-40_1726-38del r.(=) p.(=) g.65474507_65474509del Copied from the Exome Variant Server SREK1_000070 9/12516 8/8250 1/4266
?/? c.1728G>T r.(?) p.(Glu576Asp) g.65474549G>T Copied from the Exome Variant Server SREK1_000071 1/13006 0/8600 1/4406
?/? c.1739A>G r.(?) p.(Asn580Ser) g.65474560A>G Copied from the Exome Variant Server SREK1_000072 119/13006 110/8600 9/4406
?/? c.1740T>C r.(=) p.(=) g.65474561T>C Copied from the Exome Variant Server SREK1_000073 1/13006 1/8600 0/4406
?/? c.1789C>T r.(?) p.(Pro597Ser) g.65474610C>T Copied from the Exome Variant Server SREK1_000074 1/13006 1/8600 0/4406
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