Unique variants in gene GEMIN8

Information The variants shown are described using the NM_017856.2 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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.15+30del r.(=) p.(=) g.14039553del Copied from the Exome Variant Server GEMIN8_000039 207/10170 142/6473 65/3697
1 c.15+30dup r.(=) p.(=) g.14039553dup Copied from the Exome Variant Server GEMIN8_000038 296/10170 204/6473 92/3697
1 c.15+36C>T r.(=) p.(=) g.14039547G>A Copied from the Exome Variant Server GEMIN8_000037 2/10528 2/6716 0/3812
1 c.15+37G>A r.(=) p.(=) g.14039546C>T Copied from the Exome Variant Server GEMIN8_000036 1/10521 1/6711 0/3810
1 c.15+71del r.(=) p.(=) g.14039512del Copied from the Exome Variant Server GEMIN8_000035 348/9870 253/6321 95/3549
1 c.57G>C r.(=) p.(=) g.14038612C>G Copied from the Exome Variant Server GEMIN8_000034 1/10563 1/6728 0/3835
1 c.80A>G r.(?) p.(His27Arg) g.14038589T>C Copied from the Exome Variant Server GEMIN8_000033 1/10563 1/6728 0/3835
1 c.91G>T r.(?) p.(Ala31Ser) g.14038578C>A Copied from the Exome Variant Server GEMIN8_000032 74/10563 73/6728 1/3835
1 c.129G>T r.(?) p.(Arg43Ser) g.14038540C>A Copied from the Exome Variant Server GEMIN8_000031 1/10563 0/6728 1/3835
1 c.132G>A r.(=) p.(=) g.14038537C>T Copied from the Exome Variant Server GEMIN8_000030 5/10563 0/6728 5/3835
1 c.135C>G r.(=) p.(=) g.14038534G>C Copied from the Exome Variant Server GEMIN8_000029 96/10563 1/6728 95/3835
1 c.136G>A r.(?) p.(Val46Met) g.14038533C>T Copied from the Exome Variant Server GEMIN8_000028 1/10563 0/6728 1/3835
1 c.192C>T r.(=) p.(=) g.14038477G>A Copied from the Exome Variant Server GEMIN8_000027 2/10563 2/6728 0/3835
1 c.199G>A r.(?) p.(Asp67Asn) g.14038470C>T Copied from the Exome Variant Server GEMIN8_000026 1/10563 0/6728 1/3835
1 c.204T>C r.(=) p.(=) g.14038465A>G Copied from the Exome Variant Server GEMIN8_000025 1/10563 1/6728 0/3835
1 c.213G>A r.(=) p.(=) g.14038456C>T Copied from the Exome Variant Server GEMIN8_000024 1/10563 0/6728 1/3835
1 c.222G>T r.(?) p.(Gln74His) g.14038447C>A Copied from the Exome Variant Server GEMIN8_000023 1/10563 1/6728 0/3835
1 c.301C>T r.(?) p.(Arg101Cys) g.14038368G>A Copied from the Exome Variant Server GEMIN8_000022 1/10563 1/6728 0/3835
1 c.350C>G r.(?) p.(Ser117Cys) g.14038319G>C Copied from the Exome Variant Server GEMIN8_000021 1/10563 1/6728 0/3835
1 c.450C>T r.(=) p.(=) g.14038219G>A Copied from the Exome Variant Server GEMIN8_000020 1/10563 1/6728 0/3835
1 c.472+15C>T r.(=) p.(=) g.14038182G>A Copied from the Exome Variant Server GEMIN8_000019 1/10563 1/6728 0/3835
1 c.473-41C>T r.(=) p.(=) g.14027329G>A Copied from the Exome Variant Server GEMIN8_000018 2/10562 2/6728 0/3834
1 c.473-30G>C r.(=) p.(=) g.14027318C>G Copied from the Exome Variant Server GEMIN8_000017 4/10563 4/6728 0/3835
1 c.473-14G>A r.(=) p.(=) g.14027302C>T Copied from the Exome Variant Server GEMIN8_000016 10/10563 8/6728 2/3835
1 c.473-11T>G r.(=) p.(=) g.14027299A>C Copied from the Exome Variant Server GEMIN8_000015 1/10562 0/6728 1/3834
1 c.513T>C r.(=) p.(=) g.14027248A>G Copied from the Exome Variant Server GEMIN8_000014 1/10563 1/6728 0/3835
1 c.514G>A r.(?) p.(Val172Met) g.14027247C>T Copied from the Exome Variant Server GEMIN8_000013 9/10563 8/6728 1/3835
1 c.546C>G r.(=) p.(=) g.14027215G>C Copied from the Exome Variant Server GEMIN8_000012 5/10563 0/6728 5/3835
1 c.548G>A r.(?) p.(Arg183His) g.14027213C>T Copied from the Exome Variant Server GEMIN8_000011 1/10563 0/6728 1/3835
1 c.555G>A r.(=) p.(=) g.14027206C>T Copied from the Exome Variant Server GEMIN8_000010 1/10563 1/6728 0/3835
1 c.584A>T r.(?) p.(Glu195Val) g.14027177T>A Copied from the Exome Variant Server GEMIN8_000009 15/10563 8/6728 7/3835
1 c.643A>G r.(?) p.(Met215Val) g.14027118T>C Copied from the Exome Variant Server GEMIN8_000008 3/10563 0/6728 3/3835
1 c.654G>A r.(=) p.(=) g.14027107C>T Copied from the Exome Variant Server GEMIN8_000007 1/10563 0/6728 1/3835
1 c.672C>T r.(=) p.(=) g.14027089G>A Copied from the Exome Variant Server GEMIN8_000006 5/10563 3/6728 2/3835
1 c.681T>C r.(=) p.(=) g.14027080A>G Copied from the Exome Variant Server GEMIN8_000005 2/10563 2/6728 0/3835
1 c.*33_*35del r.(=) p.(=) g.14026997_14026999del Copied from the Exome Variant Server GEMIN8_000004 8/10202 3/6482 5/3720
1 c.*44T>C r.(=) p.(=) g.14026988A>G Copied from the Exome Variant Server GEMIN8_000003 11/10560 9/6727 2/3833
1 c.*47A>G r.(=) p.(=) g.14026985T>C Copied from the Exome Variant Server GEMIN8_000002 1/10561 0/6727 1/3834
1 c.*49G>A r.(=) p.(=) g.14026983C>T Copied from the Exome Variant Server GEMIN8_000001 1/10557 0/6723 1/3834
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