Unique variants in gene FTHL17

Information The variants shown are described using the NM_031894.2 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.-51G>A r.(=) p.(=) g.31090121C>T Copied from the Exome Variant Server FTHL17_000024 1/10295 1/6539 0/3756
1 c.-41C>T r.(=) p.(=) g.31090111G>A Copied from the Exome Variant Server FTHL17_000023 1/10349 1/6575 0/3774
1 c.-11C>A r.(=) p.(=) g.31090081G>T Copied from the Exome Variant Server FTHL17_000022 1/10431 1/6633 0/3798
1 c.139G>A r.(?) p.(Val47Met) g.31089932C>T Copied from the Exome Variant Server FTHL17_000021 1/10561 0/6728 1/3833
1 c.141G>A r.(=) p.(=) g.31089930C>T Copied from the Exome Variant Server FTHL17_000020 2633/10561 974/6728 1659/3833
1 c.143C>T r.(?) p.(Ala48Val) g.31089928G>A Copied from the Exome Variant Server FTHL17_000019 18/10561 15/6728 3/3833
1 c.193G>A r.(?) p.(Glu65Lys) g.31089878C>T Copied from the Exome Variant Server FTHL17_000018 1/10561 1/6728 0/3833
1 c.198T>A r.(?) p.(His66Gln) g.31089873A>T Copied from the Exome Variant Server FTHL17_000017 31/10561 0/6728 31/3833
1 c.229C>T r.(?) p.(Arg77Cys) g.31089842G>A Copied from the Exome Variant Server FTHL17_000016 9/10561 7/6728 2/3833
1 c.230G>A r.(?) p.(Arg77His) g.31089841C>T Copied from the Exome Variant Server FTHL17_000015 113/10561 0/6728 113/3833
1 c.268G>C r.(?) p.(Glu90Gln) g.31089803C>G Copied from the Exome Variant Server FTHL17_000014 1/10561 1/6728 0/3833
1 c.288C>T r.(=) p.(=) g.31089783G>A Copied from the Exome Variant Server FTHL17_000013 1/10561 1/6728 0/3833
1 c.294C>T r.(=) p.(=) g.31089777G>A Copied from the Exome Variant Server FTHL17_000012 1/10561 1/6728 0/3833
1 c.301A>G r.(?) p.(Met101Val) g.31089770T>C Copied from the Exome Variant Server FTHL17_000011 1/10561 1/6728 0/3833
1 c.309C>T r.(=) p.(=) g.31089762G>A Copied from the Exome Variant Server FTHL17_000010 1/10561 0/6728 1/3833
1 c.360G>C r.(?) p.(Gln120His) g.31089711C>G Copied from the Exome Variant Server FTHL17_000009 161/10561 4/6728 157/3833
1 c.361C>A r.(?) p.(Leu121Met) g.31089710G>T Copied from the Exome Variant Server FTHL17_000008 2/10561 0/6728 2/3833
1 c.369G>A r.(=) p.(=) g.31089702C>T Copied from the Exome Variant Server FTHL17_000007 1/10561 1/6728 0/3833
1 c.442G>T r.(?) p.(Glu148*) g.31089629C>A Copied from the Exome Variant Server FTHL17_000006 70/10561 4/6728 66/3833
1 c.443A>T r.(?) p.(Glu148Val) g.31089628T>A Copied from the Exome Variant Server FTHL17_000005 69/10561 4/6728 65/3833
1 c.456C>T r.(=) p.(=) g.31089615G>A Copied from the Exome Variant Server FTHL17_000004 1/10561 1/6728 0/3833
1 c.522C>T r.(=) p.(=) g.31089549G>A Copied from the Exome Variant Server FTHL17_000003 1/10561 1/6728 0/3833
1 c.*6G>A r.(=) p.(=) g.31089513C>T Copied from the Exome Variant Server FTHL17_000002 1/10560 0/6727 1/3833
1 c.*8T>A r.(=) p.(=) g.31089511A>T Copied from the Exome Variant Server FTHL17_000001 2/10560 0/6727 2/3833
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