All transcript variants in gene SLC25A14

Information The variants shown are described using the NM_022810.1 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.4G>A r.(?) p.(Gly2Ser) g.129474256G>A Copied from the Exome Variant Server SLC25A14_000001 1/10563 1/6728 0/3835
?/? c.39G>A r.(=) p.(=) g.129474291G>A Copied from the Exome Variant Server SLC25A14_000002 1/10563 0/6728 1/3835
?/? c.53C>T r.(?) p.(Thr18Met) g.129474305C>T Copied from the Exome Variant Server SLC25A14_000003 1/10563 1/6728 0/3835
?/? c.54G>A r.(=) p.(=) g.129474306G>A Copied from the Exome Variant Server SLC25A14_000004 5/10563 2/6728 3/3835
?/? c.66+31A>G r.(=) p.(=) g.129474349A>G Copied from the Exome Variant Server SLC25A14_000005 1/10563 0/6728 1/3835
?/? c.66+35G>A r.(=) p.(=) g.129474353G>A Copied from the Exome Variant Server SLC25A14_000006 1/10563 1/6728 0/3835
?/? c.67-3T>C r.spl? p.? g.129479153T>C Copied from the Exome Variant Server SLC25A14_000007 1/10563 0/6728 1/3835
?/? c.147C>T r.(=) p.(=) g.129479236C>T Copied from the Exome Variant Server SLC25A14_000008 1/10563 1/6728 0/3835
?/? c.148G>A r.(?) p.(Val50Met) g.129479237G>A Copied from the Exome Variant Server SLC25A14_000009 2/10563 2/6728 0/3835
?/? c.160+35C>T r.(=) p.(=) g.129479284C>T Copied from the Exome Variant Server SLC25A14_000010 1/10563 0/6728 1/3835
?/? c.160+43A>G r.(=) p.(=) g.129479292A>G Copied from the Exome Variant Server SLC25A14_000011 6/10563 0/6728 6/3835
?/? c.161-51C>T r.(=) p.(=) g.129480467C>T Copied from the Exome Variant Server SLC25A14_000012 19/10560 0/6725 19/3835
?/? c.234G>A r.(=) p.(=) g.129480591G>A Copied from the Exome Variant Server SLC25A14_000013 1/10561 0/6726 1/3835
?/? c.243T>C r.(=) p.(=) g.129480600T>C Copied from the Exome Variant Server SLC25A14_000014 1/10561 0/6726 1/3835
?/? c.268C>T r.(?) p.(Arg90Cys) g.129480625C>T Copied from the Exome Variant Server SLC25A14_000015 1/10561 1/6726 0/3835
?/? c.309-15_309-13del r.(=) p.(=) g.129483210_129483212del Copied from the Exome Variant Server SLC25A14_000016 5/10202 2/6481 3/3721
?/? c.309-14_309-13del r.(=) p.(=) g.129483211_129483212del Copied from the Exome Variant Server SLC25A14_000031 59/10202 37/6481 22/3721
?/? c.309-13del r.(=) p.(=) g.129483212del Copied from the Exome Variant Server SLC25A14_000018 2111/10202 1361/6481 750/3721
?/? c.309-13dup r.(=) p.(=) g.129483212dup Copied from the Exome Variant Server SLC25A14_000017 516/10202 361/6481 155/3721
?/? c.403+40G>A r.(=) p.(=) g.129483359G>A Copied from the Exome Variant Server SLC25A14_000019 2/10559 0/6726 2/3833
?/? c.412C>T r.(?) p.(Leu138Phe) g.129484628C>T Copied from the Exome Variant Server SLC25A14_000020 1/10563 1/6728 0/3835
?/? c.415T>C r.(=) p.(=) g.129484631T>C Copied from the Exome Variant Server SLC25A14_000021 27/10563 0/6728 27/3835
?/? c.435G>A r.(=) p.(=) g.129484651G>A Copied from the Exome Variant Server SLC25A14_000022 24/10563 21/6728 3/3835
?/? c.477C>T r.(=) p.(=) g.129484693C>T Copied from the Exome Variant Server SLC25A14_000023 35/10563 33/6728 2/3835
?/? c.489+31G>A r.(=) p.(=) g.129484736G>A Copied from the Exome Variant Server SLC25A14_000024 1/10563 1/6728 0/3835
?/? c.585+27C>G r.(=) p.(=) g.129492736C>G Copied from the Exome Variant Server SLC25A14_000025 1/10563 1/6728 0/3835
?/? c.585+42C>G r.(=) p.(=) g.129492751C>G Copied from the Exome Variant Server SLC25A14_000026 1/10563 1/6728 0/3835
?/? c.586-4G>T r.spl? p.? g.129498598G>T Copied from the Exome Variant Server SLC25A14_000027 1/10563 1/6728 0/3835
?/? c.692C>A r.(?) p.(Thr231Lys) g.129498708C>A Copied from the Exome Variant Server SLC25A14_000028 2/10563 2/6728 0/3835
?/? c.798C>T r.(=) p.(=) g.129499602C>T Copied from the Exome Variant Server SLC25A14_000029 1/10563 1/6728 0/3835
?/? c.928-25T>C r.(=) p.(=) g.129506858T>C Copied from the Exome Variant Server SLC25A14_000030 3/10563 0/6728 3/3835
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