All transcript variants in gene SLC25A43

Information The variants shown are described using the NM_145305.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.276-43T>C r.(=) p.(=) g.118540380T>C Copied from the Exome Variant Server SLC25A43_000001 1/10559 1/6725 0/3834
?/? c.276-23C>A r.(=) p.(=) g.118540400C>A Copied from the Exome Variant Server SLC25A43_000002 1/10563 0/6728 1/3835
?/? c.328A>G r.(?) p.(Ile110Val) g.118540475A>G Copied from the Exome Variant Server SLC25A43_000003 13/10563 0/6728 13/3835
?/? c.392_393insAGG r.(?) p.(Lys131_Thr132insGly) g.118540539_118540540insAGG Copied from the Exome Variant Server SLC25A43_000004 1/10205 1/6484 0/3721
?/? c.398G>A r.(?) p.(Arg133Gln) g.118540545G>A Copied from the Exome Variant Server SLC25A43_000005 1/10563 1/6728 0/3835
?/? c.491A>C r.(?) p.(Tyr164Ser) g.118540638A>C Copied from the Exome Variant Server SLC25A43_000006 1/10563 0/6728 1/3835
?/? c.493C>T r.(?) p.(Arg165*) g.118540640C>T Copied from the Exome Variant Server SLC25A43_000007 2/10563 2/6728 0/3835
?/? c.518-5T>C r.spl? p.? g.118544148T>C Copied from the Exome Variant Server SLC25A43_000008 591/10563 267/6728 324/3835
?/? c.522T>C r.(=) p.(=) g.118544157T>C Copied from the Exome Variant Server SLC25A43_000009 10/10563 0/6728 10/3835
?/? c.591T>C r.(=) p.(=) g.118544226T>C Copied from the Exome Variant Server SLC25A43_000010 1/10563 0/6728 1/3835
?/? c.603C>T r.(=) p.(=) g.118544238C>T Copied from the Exome Variant Server SLC25A43_000011 2/10563 0/6728 2/3835
?/? c.672C>G r.(=) p.(=) g.118544307C>G Copied from the Exome Variant Server SLC25A43_000012 3/10563 0/6728 3/3835
?/? c.691-29A>G r.(=) p.(=) g.118585943A>G Copied from the Exome Variant Server SLC25A43_000013 1933/10563 954/6728 979/3835
?/? c.760C>T r.(?) p.(Arg254Trp) g.118586041C>T Copied from the Exome Variant Server SLC25A43_000014 1/10563 1/6728 0/3835
?/? c.791G>A r.(?) p.(Gly264Glu) g.118586072G>A Copied from the Exome Variant Server SLC25A43_000015 1/10563 1/6728 0/3835
?/? c.809C>T r.(?) p.(Thr270Ile) g.118586090C>T Copied from the Exome Variant Server SLC25A43_000016 5/10563 0/6728 5/3835
?/? c.825+22C>T r.(=) p.(=) g.118586128C>T Copied from the Exome Variant Server SLC25A43_000017 1/10498 0/6686 1/3812
?/? c.825+23G>A r.(=) p.(=) g.118586129G>A Copied from the Exome Variant Server SLC25A43_000018 1/10457 1/6656 0/3801
?/? c.825+25T>C r.(=) p.(=) g.118586131T>C Copied from the Exome Variant Server SLC25A43_000019 24/10445 0/6654 24/3791
?/? c.864G>A r.(=) p.(=) g.118586866G>A Copied from the Exome Variant Server SLC25A43_000020 1/10563 1/6728 0/3835
?/? c.924A>G r.(=) p.(=) g.118586926A>G Copied from the Exome Variant Server SLC25A43_000021 1/10563 1/6728 0/3835
?/? c.967C>T r.(?) p.(Arg323*) g.118586969C>T Copied from the Exome Variant Server SLC25A43_000022 1/10563 1/6728 0/3835
?/? c.968G>A r.(?) p.(Arg323Gln) g.118586970G>A Copied from the Exome Variant Server SLC25A43_000023 6/10563 5/6728 1/3835
?/? c.1001C>T r.(?) p.(Pro334Leu) g.118587003C>T Copied from the Exome Variant Server SLC25A43_000024 6194/10562 3899/6727 2295/3835
?/? c.1002G>A r.(=) p.(=) g.118587004G>A Copied from the Exome Variant Server SLC25A43_000025 5/10562 0/6727 5/3835
?/? c.1018A>G r.(?) p.(Thr340Ala) g.118587020A>G Copied from the Exome Variant Server SLC25A43_000026 1/10563 1/6728 0/3835
?/? c.*29T>A r.(=) p.(=) g.118587057T>A Copied from the Exome Variant Server SLC25A43_000027 21/10559 0/6728 21/3831
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