Unique variants in gene SEPT6

Information The variants shown are described using the NM_145802.3 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
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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.-45C>A r.(=) p.(=) g.118827113G>T Copied from the Exome Variant Server SEPT6_000076 2/9966 1/6327 1/3639
1 c.-41T>C r.(=) p.(=) g.118827109A>G Copied from the Exome Variant Server SEPT6_000075 1/9812 1/6247 0/3565
1 c.6A>G r.(=) p.(=) g.118827063T>C Copied from the Exome Variant Server SEPT6_000074 1/10232 0/6498 1/3734
1 c.30+32G>A r.(=) p.(=) g.118827007C>T Copied from the Exome Variant Server SEPT6_000073 1/10126 0/6440 1/3686
1 c.30+72_30+73insC r.(=) p.(=) g.118826966_118826967insG Copied from the Exome Variant Server SEPT6_000072 133/7277 74/4609 59/2668
1 c.31-40A>G r.(=) p.(=) g.118809671T>C Copied from the Exome Variant Server SEPT6_000071 3/10543 3/6712 0/3831
1 c.52C>T r.(?) p.(Pro18Ser) g.118809610G>A Copied from the Exome Variant Server SEPT6_000070 5/10563 5/6728 0/3835
1 c.145+14T>C r.(=) p.(=) g.118809503A>G Copied from the Exome Variant Server SEPT6_000069 1/10562 0/6728 1/3834
1 c.145+28A>G r.(=) p.(=) g.118809489T>C Copied from the Exome Variant Server SEPT6_000068 36/10563 0/6728 36/3835
1 c.145+37T>C r.(=) p.(=) g.118809480A>G Copied from the Exome Variant Server SEPT6_000067 1/10563 0/6728 1/3835
1 c.146-17A>G r.(=) p.(=) g.118797657T>C Copied from the Exome Variant Server SEPT6_000066 1/10563 1/6728 0/3835
1 c.298G>A r.(?) p.(Val100Ile) g.118797488C>T Copied from the Exome Variant Server SEPT6_000065 3/10563 0/6728 3/3835
1 c.341+23G>C r.(=) p.(=) g.118797422C>G Copied from the Exome Variant Server SEPT6_000064 75/10553 0/6723 75/3830
1 c.341+25del r.(=) p.(=) g.118797420del Copied from the Exome Variant Server SEPT6_000063 106/10171 1/6461 105/3710
1 c.341+35G>A r.(=) p.(=) g.118797410C>T Copied from the Exome Variant Server SEPT6_000062 5/10481 0/6688 5/3793
1 c.342-34C>T r.(=) p.(=) g.118787037G>A Copied from the Exome Variant Server SEPT6_000061 2/10563 2/6728 0/3835
1 c.342-26G>A r.(=) p.(=) g.118787029C>T Copied from the Exome Variant Server SEPT6_000060 1/10563 1/6728 0/3835
1 c.342-19T>A r.(=) p.(=) g.118787022A>T Copied from the Exome Variant Server SEPT6_000059 2264/10563 961/6728 1303/3835
1 c.342-7C>T r.(=) p.(=) g.118787010G>A Copied from the Exome Variant Server SEPT6_000058 34/10563 0/6728 34/3835
1 c.420A>C r.(=) p.(=) g.118786925T>G Copied from the Exome Variant Server SEPT6_000057 1/10563 1/6728 0/3835
1 c.422A>G r.(?) p.(His141Arg) g.118786923T>C Copied from the Exome Variant Server SEPT6_000056 1/10563 1/6728 0/3835
1 c.473C>T r.(?) p.(Thr158Met) g.118786872G>A Copied from the Exome Variant Server SEPT6_000055 1/10563 1/6728 0/3835
1 c.528+11C>G r.(=) p.(=) g.118786806G>C Copied from the Exome Variant Server SEPT6_000054 16/10563 16/6728 0/3835
1 c.528+18G>A r.(=) p.(=) g.118786799C>T Copied from the Exome Variant Server SEPT6_000053 3/10563 0/6728 3/3835
1 c.528+47C>G r.(=) p.(=) g.118786770G>C Copied from the Exome Variant Server SEPT6_000052 2/10561 0/6726 2/3835
1 c.529-13C>T r.(=) p.(=) g.118784074G>A Copied from the Exome Variant Server SEPT6_000051 2/10563 0/6728 2/3835
1 c.609C>T r.(=) p.(=) g.118783981G>A Copied from the Exome Variant Server SEPT6_000050 1/10563 0/6728 1/3835
1 c.618C>T r.(=) p.(=) g.118783972G>A Copied from the Exome Variant Server SEPT6_000049 1/10563 1/6728 0/3835
1 c.652G>A r.(?) p.(Asp218Asn) g.118783938C>T Copied from the Exome Variant Server SEPT6_000048 1/10563 0/6728 1/3835
1 c.690+19C>T r.(=) p.(=) g.118783881G>A Copied from the Exome Variant Server SEPT6_000047 3273/10563 956/6728 2317/3835
1 c.690+51A>C r.(=) p.(=) g.118783849T>G Copied from the Exome Variant Server SEPT6_000046 6/10563 6/6728 0/3835
1 c.690+3012T>C r.(=) p.(=) g.118780888A>G Copied from the Exome Variant Server SEPT6_000045 15/3600 14/2391 1/1209
1 c.690+3072C>G r.(=) p.(=) g.118780828G>C Copied from the Exome Variant Server SEPT6_000044 1/8105 1/5485 0/2620
1 c.690+3110G>T N/A N/A g.118780790C>A Copied from the Exome Variant Server SEPT6_000043 2/8120 0/5494 2/2626
1 c.690+3119G>A N/A N/A g.118780781C>T Copied from the Exome Variant Server SEPT6_000042 1/8124 1/5497 0/2627
1 c.690+3177C>T N/A N/A g.118780723G>A Copied from the Exome Variant Server SEPT6_000041 1/8124 1/5498 0/2626
1 c.690+3187T>C N/A N/A g.118780713A>G Copied from the Exome Variant Server SEPT6_000040 2/8124 0/5498 2/2626
1 c.690+3213del r.(=) p.(=) g.118780687del Copied from the Exome Variant Server SEPT6_000039 194/9375 167/5868 27/3507
1 c.690+3215G>A r.(=) p.(=) g.118780685C>T Copied from the Exome Variant Server SEPT6_000038 1/8116 0/5491 1/2625
1 c.691-35T>C r.(=) p.(=) g.118774786A>G Copied from the Exome Variant Server SEPT6_000037 1/10563 1/6728 0/3835
1 c.732G>A r.(=) p.(=) g.118774710C>T Copied from the Exome Variant Server SEPT6_000036 1/10563 1/6728 0/3835
1 c.759G>A r.(=) p.(=) g.118774683C>T Copied from the Exome Variant Server SEPT6_000035 1/10563 0/6728 1/3835
1 c.769C>A r.(?) p.(Pro257Thr) g.118774673G>T Copied from the Exome Variant Server SEPT6_000033 1/10563 1/6728 0/3835
1 c.777C>T r.(=) p.(=) g.118774665G>A Copied from the Exome Variant Server SEPT6_000031 3/10563 3/6728 0/3835
1 c.787+11C>T r.(=) p.(=) g.118774644G>A Copied from the Exome Variant Server SEPT6_000029 1/10563 0/6728 1/3835
1 c.787+14C>T r.(=) p.(=) g.118774641G>A Copied from the Exome Variant Server SEPT6_000034 1/10563 0/6728 1/3835
1 c.787+15G>A r.(=) p.(=) g.118774640C>T Copied from the Exome Variant Server SEPT6_000032 1/10563 1/6728 0/3835
1 c.787+21G>A r.(=) p.(=) g.118774634C>T Copied from the Exome Variant Server SEPT6_000030 140/10563 132/6728 8/3835
1 c.787+29A>C r.(=) p.(=) g.118774626T>G Copied from the Exome Variant Server SEPT6_000028 1/10563 1/6728 0/3835
1 c.787+37C>T r.(=) p.(=) g.118774618G>A Copied from the Exome Variant Server SEPT6_000027 1/10563 0/6728 1/3835
1 c.788-47G>A r.(=) p.(=) g.118771205C>T Copied from the Exome Variant Server SEPT6_000026 1/10563 0/6728 1/3835
1 c.824G>A r.(?) p.(Arg275Gln) g.118771122C>T Copied from the Exome Variant Server SEPT6_000025 2/10563 2/6728 0/3835
1 c.838C>G r.(?) p.(Arg280Gly) g.118771108G>C Copied from the Exome Variant Server SEPT6_000024 2/10563 0/6728 2/3835
1 c.891G>A r.(=) p.(=) g.118771055C>T Copied from the Exome Variant Server SEPT6_000023 1/10563 1/6728 0/3835
1 c.930C>T r.(=) p.(=) g.118771016G>A Copied from the Exome Variant Server SEPT6_000022 1/10563 1/6728 0/3835
1 c.956+47C>G r.(=) p.(=) g.118770943G>C Copied from the Exome Variant Server SEPT6_000021 33/10563 0/6728 33/3835
1 c.957-1657G>T r.(=) p.(=) g.118769112C>A Copied from the Exome Variant Server SEPT6_000020 3/4522 0/3104 3/1418
1 c.1065G>A r.(=) p.(=) g.118767347C>T Copied from the Exome Variant Server SEPT6_000019 2/10563 1/6728 1/3835
1 c.1089+52T>C r.(=) p.(=) g.118767271A>G Copied from the Exome Variant Server SEPT6_000018 38/4525 0/3107 38/1418
1 c.1090-23A>G r.(=) p.(=) g.118763494T>C Copied from the Exome Variant Server SEPT6_000017 4/10563 0/6728 4/3835
1 c.1108C>T r.(?) p.(Arg370Cys) g.118763453G>A Copied from the Exome Variant Server SEPT6_000016 6/10563 6/6728 0/3835
1 c.1131C>T r.(=) p.(=) g.118763430G>A Copied from the Exome Variant Server SEPT6_000015 5/10563 0/6728 5/3835
1 c.1155G>A r.(=) p.(=) g.118763406C>T Copied from the Exome Variant Server SEPT6_000014 1090/10563 333/6728 757/3835
1 c.1280+39C>G r.(=) p.(=) g.118763242G>C Copied from the Exome Variant Server SEPT6_000013 1/10563 0/6728 1/3835
1 c.1280+5221G>T r.(=) p.(=) g.118758060C>A Copied from the Exome Variant Server SEPT6_000012 1/4513 0/3100 1/1413
1 c.1280+5282G>T r.(=) p.(=) g.118757999C>A Copied from the Exome Variant Server SEPT6_000011 1/4523 0/3105 1/1418
1 c.1280+5284del r.(=) p.(=) g.118757997del Copied from the Exome Variant Server SEPT6_000010 1/5349 1/3503 0/1846
1 c.1281-3280G>A r.(=) p.(=) g.118753985C>T Copied from the Exome Variant Server SEPT6_000009 1/4525 0/3107 1/1418
1 c.1281-3279C>T r.(=) p.(=) g.118753984G>A Copied from the Exome Variant Server SEPT6_000008 1/4525 1/3107 0/1418
1 c.1281-2068C>G r.(=) p.(=) g.118752773G>C Copied from the Exome Variant Server SEPT6_000007 11/10563 0/6728 11/3835
1 c.1281-2016T>G r.(=) p.(=) g.118752721A>C Copied from the Exome Variant Server SEPT6_000006 19/10563 18/6728 1/3835
1 c.1281-2012C>T r.(=) p.(=) g.118752717G>A Copied from the Exome Variant Server SEPT6_000005 3/10563 1/6728 2/3835
1 c.1281-2011G>A r.(=) p.(=) g.118752716C>T Copied from the Exome Variant Server SEPT6_000004 1/10563 0/6728 1/3835
1 c.1281-71_1281-70del r.(=) p.(=) g.118750775_118750776del Copied from the Exome Variant Server SEPT6_000003 1/10147 0/6457 1/3690
1 c.1281-36T>C r.(=) p.(=) g.118750741A>G Copied from the Exome Variant Server SEPT6_000002 26/10561 0/6727 26/3834
1 c.*239C>T r.(=) p.(=) g.118750457G>A Copied from the Exome Variant Server SEPT6_000001 14/4518 14/3101 0/1417
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