Unique variants in gene SLC25A5

Information The variants shown are described using the NM_001152.4 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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.-48G>A r.(=) p.(=) g.118602431G>A Copied from the Exome Variant Server SLC25A5_000001 3/10512 0/6700 3/3812
1 c.112-34A>G r.(=) p.(=) g.118603590A>G Copied from the Exome Variant Server SLC25A5_000002 2/10562 0/6727 2/3835
1 c.164T>C r.(?) p.(Ile55Thr) g.118603676T>C Copied from the Exome Variant Server SLC25A5_000003 1/10563 1/6728 0/3835
1 c.357G>T r.(=) p.(=) g.118603869G>T Copied from the Exome Variant Server SLC25A5_000004 1/10563 1/6728 0/3835
1 c.366C>T r.(=) p.(=) g.118603878C>T Copied from the Exome Variant Server SLC25A5_000005 1/10563 0/6728 1/3835
1 c.498A>G r.(=) p.(=) g.118604010A>G Copied from the Exome Variant Server SLC25A5_000006 1/10561 0/6726 1/3835
1 c.598+13T>G r.(=) p.(=) g.118604123T>G Copied from the Exome Variant Server SLC25A5_000007 2/10526 2/6698 0/3828
1 c.598+24G>A r.(=) p.(=) g.118604134G>A Copied from the Exome Variant Server SLC25A5_000008 1/10530 1/6698 0/3832
1 c.599-39_599-38del r.(=) p.(=) g.118604297_118604298del Copied from the Exome Variant Server SLC25A5_000009 10/10122 0/6423 10/3699
1 c.599-25A>G r.(=) p.(=) g.118604311A>G Copied from the Exome Variant Server SLC25A5_000010 1/10563 1/6728 0/3835
1 c.699T>C r.(=) p.(=) g.118604436T>C Copied from the Exome Variant Server SLC25A5_000011 8758/10563 5093/6728 3665/3835
1 c.707G>A r.(?) p.(Arg236His) g.118604444G>A Copied from the Exome Variant Server SLC25A5_000012 1/10563 1/6728 0/3835
1 c.739+36C>T r.(=) p.(=) g.118604512C>T Copied from the Exome Variant Server SLC25A5_000013 12/10562 0/6727 12/3835
1 c.740-39G>A r.(=) p.(=) g.118604825G>A Copied from the Exome Variant Server SLC25A5_000014 1/10563 1/6728 0/3835
1 c.753C>T r.(=) p.(=) g.118604877C>T Copied from the Exome Variant Server SLC25A5_000015 1/10563 1/6728 0/3835
1 c.776G>A r.(?) p.(Arg259Gln) g.118604900G>A Copied from the Exome Variant Server SLC25A5_000016 1/10563 0/6728 1/3835
1 c.894A>C r.(=) p.(=) g.118605018A>C Copied from the Exome Variant Server SLC25A5_000017 18/10561 0/6726 18/3835
1 c.*1G>T r.(=) p.(=) g.118605022G>T Copied from the Exome Variant Server SLC25A5_000018 1/10559 0/6724 1/3835
1 c.*14_*15insT r.(=) p.(=) g.118605035_118605036insT Copied from the Exome Variant Server SLC25A5_000019 2/10194 1/6474 1/3720
1 c.*23C>A r.(=) p.(=) g.118605044C>A Copied from the Exome Variant Server SLC25A5_000020 25/10541 1/6707 24/3834
1 c.*25del r.(=) p.(=) g.118605046del Copied from the Exome Variant Server SLC25A5_000021 1/10184 0/6464 1/3720
1 c.*41G>A r.(=) p.(=) g.118605062G>A Copied from the Exome Variant Server SLC25A5_000022 1/10477 1/6658 0/3819
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