All transcript variants in gene FAM199X

Information The variants shown are described using the NM_207318.3 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-14G>A r.(=) p.(=) g.103411453G>A Copied from the Exome Variant Server FAM199X_000004 7/10535 6/6709 1/3826
?/? c.18G>C r.(=) p.(=) g.103411484G>C Copied from the Exome Variant Server FAM199X_000001 8/10555 0/6721 8/3834
?/? c.74G>C r.(?) p.(Gly25Ala) g.103411540G>C Copied from the Exome Variant Server FAM199X_000002 1/10559 1/6726 0/3833
?/? c.153C>A r.(=) p.(=) g.103411619C>A Copied from the Exome Variant Server FAM199X_000003 1/10561 0/6727 1/3834
?/? c.198-27G>T r.(=) p.(=) g.103420277G>T Copied from the Exome Variant Server FAM199X_000005 3/10563 3/6728 0/3835
?/? c.417+38C>T r.(=) p.(=) g.103420561C>T Copied from the Exome Variant Server FAM199X_000006 1/10561 0/6726 1/3835
?/? c.417+39G>A r.(=) p.(=) g.103420562G>A Copied from the Exome Variant Server FAM199X_000007 271/10561 249/6726 22/3835
?/? c.418-22C>T r.(=) p.(=) g.103430725C>T Copied from the Exome Variant Server FAM199X_000008 1/10563 1/6728 0/3835
?/? c.418-15_418-13del r.(=) p.(=) g.103430732_103430734del Copied from the Exome Variant Server FAM199X_000009 1/10205 0/6484 1/3721
?/? c.418-9T>G r.(=) p.(=) g.103430738T>G Copied from the Exome Variant Server FAM199X_000010 5/10563 0/6728 5/3835
?/? c.510A>T r.(?) p.(Lys170Asn) g.103430839A>T Copied from the Exome Variant Server FAM199X_000011 1/10563 0/6728 1/3835
?/? c.521G>A r.(?) p.(Arg174Gln) g.103430850G>A Copied from the Exome Variant Server FAM199X_000012 1/10563 1/6728 0/3835
?/? c.567+15A>G r.(=) p.(=) g.103430911A>G Copied from the Exome Variant Server FAM199X_000013 16/10563 14/6728 2/3835
?/? c.567+44C>G r.(=) p.(=) g.103430940C>G Copied from the Exome Variant Server FAM199X_000014 2/10559 0/6726 2/3833
?/? c.709A>G r.(?) p.(Thr237Ala) g.103431282A>G Copied from the Exome Variant Server FAM199X_000015 1/10563 0/6728 1/3835
?/? c.1068C>G r.(=) p.(=) g.103434360C>G Copied from the Exome Variant Server FAM199X_000016 2/10563 0/6728 2/3835
?/? c.1107G>A r.(=) p.(=) g.103434399G>A Copied from the Exome Variant Server FAM199X_000017 68/10563 0/6728 68/3835
?/? c.*43T>G r.(=) p.(=) g.103434502T>G Copied from the Exome Variant Server FAM199X_000018 1/10563 1/6728 0/3835
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