Unique variants in gene FGF13

Information The variants shown are described using the NM_004114.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-7C>T r.(=) p.(=) g.137793172G>A Copied from the Exome Variant Server FGF13_000016 2/10559 2/6724 0/3835
1 c.75C>T r.(=) p.(=) g.137793091G>A Copied from the Exome Variant Server FGF13_000015 1/10563 1/6728 0/3835
1 c.143G>A r.(?) p.(Arg48Gln) g.137793023C>T Copied from the Exome Variant Server FGF13_000014 1/10563 0/6728 1/3835
1 c.159C>A r.(=) p.(=) g.137793007G>T Copied from the Exome Variant Server FGF13_000013 2/10563 0/6728 2/3835
1 c.187+12C>T r.(=) p.(=) g.137792967G>A Copied from the Exome Variant Server FGF13_000012 631/10563 6/6728 625/3835
1 c.187+23T>A r.(=) p.(=) g.137792956A>T Copied from the Exome Variant Server FGF13_000011 1/10563 1/6728 0/3835
1 c.187+43T>G r.(=) p.(=) g.137792936A>C Copied from the Exome Variant Server FGF13_000010 1/10563 0/6728 1/3835
1 c.188-40A>G r.(=) p.(=) g.137791130T>C Copied from the Exome Variant Server FGF13_000009 72/10563 2/6728 70/3835
1 c.188-18T>G r.(=) p.(=) g.137791108A>C Copied from the Exome Variant Server FGF13_000008 2/10563 0/6728 2/3835
1 c.207A>T r.(=) p.(=) g.137791071T>A Copied from the Exome Variant Server FGF13_000007 1/10563 1/6728 0/3835
1 c.217C>A r.(?) p.(Leu73Ile) g.137791061G>T Copied from the Exome Variant Server FGF13_000006 1/10563 1/6728 0/3835
1 c.246G>A r.(=) p.(=) g.137791032C>T Copied from the Exome Variant Server FGF13_000005 1/10563 1/6728 0/3835
1 c.279A>G r.(=) p.(=) g.137790999T>C Copied from the Exome Variant Server FGF13_000004 1/10563 1/6728 0/3835
1 c.293C>T r.(?) p.(Thr98Ile) g.137790985G>A Copied from the Exome Variant Server FGF13_000003 1/10563 1/6728 0/3835
1 c.298+29G>T r.(=) p.(=) g.137790951C>A Copied from the Exome Variant Server FGF13_000002 3/10563 0/6728 3/3835
1 c.298+49_298+50del r.(=) p.(=) g.137790930_137790931del Copied from the Exome Variant Server FGF13_000001 11/10205 8/6484 3/3721
1 c.363G>T r.(=) p.(=) g.137785185C>A Copied from the Exome Variant Server FGF13_000025 1/10563 1/6728 0/3835
1 c.403-32170A>G r.(=) p.(=) g.137749986T>C Copied from the Exome Variant Server FGF13_000024 1/8120 1/5497 0/2623
1 c.403-32040A>G r.(=) p.(=) g.137749856T>C Copied from the Exome Variant Server FGF13_000023 1/8118 1/5496 0/2622
1 c.403-44A>G r.(=) p.(=) g.137717860T>C Copied from the Exome Variant Server FGF13_000022 1/10545 1/6714 0/3831
1 c.403-42A>G r.(=) p.(=) g.137717858T>C Copied from the Exome Variant Server FGF13_000021 2/10547 1/6716 1/3831
1 c.404A>C r.(?) p.(Glu135Ala) g.137717815T>G Copied from the Exome Variant Server FGF13_000020 1/10563 1/6728 0/3835
1 c.589A>C r.(?) p.(Lys197Gln) g.137717630T>G Copied from the Exome Variant Server FGF13_000019 3/10563 0/6728 3/3835
1 c.595C>T r.(=) p.(=) g.137717624G>A Copied from the Exome Variant Server FGF13_000018 1/10563 1/6728 0/3835
1 c.597G>A r.(=) p.(=) g.137717622C>T Copied from the Exome Variant Server FGF13_000017 1/10563 1/6728 0/3835
1 c.601+24A>G r.(=) p.(=) g.137717594T>C Copied from the Exome Variant Server FGF13_000028 1/10563 1/6728 0/3835
1 c.601+43A>G r.(=) p.(=) g.137717575T>C Copied from the Exome Variant Server FGF13_000027 1/10561 1/6728 0/3833
1 c.693C>T r.(=) p.(=) g.137715056G>A Copied from the Exome Variant Server FGF13_000026 1/10563 1/6728 0/3835
1 c.702C>T r.(=) p.(=) g.137715047G>A Copied from the Exome Variant Server FGF13_000029 2/10563 2/6728 0/3835
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