Unique variants in gene FHL1

Information The variants shown are described using the NM_001449.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-26-9323G>A r.(=) p.(=) g.135279243G>A Copied from the Exome Variant Server FHL1_000029 1/8125 0/5498 1/2627
1 c.-26-9273G>A r.(=) p.(=) g.135279293G>A Copied from the Exome Variant Server FHL1_000030 1/8125 0/5498 1/2627
1 c.-26-5C>T r.(=) p.(=) g.135288561C>T Copied from the Exome Variant Server FHL1_000031 1/10563 1/6728 0/3835
1 c.5C>T r.(?) p.(Ala2Val) g.135288596C>T Copied from the Exome Variant Server FHL1_000032 3/10563 2/6728 1/3835
1 c.66G>A r.(=) p.(=) g.135288657G>A Copied from the Exome Variant Server FHL1_000033 6/10563 0/6728 6/3835
1 c.108T>C r.(=) p.(=) g.135288699T>C Copied from the Exome Variant Server FHL1_000034 1/10563 1/6728 0/3835
1 c.146C>T r.(?) p.(Ala49Val) g.135288737C>T Copied from the Exome Variant Server FHL1_000035 1/10563 0/6728 1/3835
1 c.156+5C>T r.spl? p.? g.135288752C>T Copied from the Exome Variant Server FHL1_000036 70/10563 0/6728 70/3835
1 c.157-47C>T r.(=) p.(=) g.135289128C>T Copied from the Exome Variant Server FHL1_000037 1/10561 0/6726 1/3835
1 c.157-42A>G r.(=) p.(=) g.135289133A>G Copied from the Exome Variant Server FHL1_000038 1/10559 1/6724 0/3835
1 c.157-39A>G r.(=) p.(=) g.135289136A>G Copied from the Exome Variant Server FHL1_000039 50/10562 0/6727 50/3835
1 c.157-23C>T r.(=) p.(=) g.135289152C>T Copied from the Exome Variant Server FHL1_000040 1/10562 1/6727 0/3835
1 c.177C>A r.(=) p.(=) g.135289195C>A Copied from the Exome Variant Server FHL1_000041 3/10563 0/6728 3/3835
1 c.222_235del r.(?) p.(Ala76Cysfs*50) g.135289240_135289253del Copied from the Exome Variant Server FHL1_000042 51/10201 33/6482 18/3719
1 c.261C>T r.(=) p.(=) g.135289279C>T Copied from the Exome Variant Server FHL1_000043 1/10563 1/6728 0/3835
1 c.283C>T r.(?) p.(Arg95Trp) g.135289301C>T Copied from the Exome Variant Server FHL1_000044 6/10563 6/6728 0/3835
1 c.331+26T>A r.(=) p.(=) g.135289375T>A Copied from the Exome Variant Server FHL1_000045 1/10563 1/6728 0/3835
1 c.332-49C>T r.(=) p.(=) g.135289902C>T Copied from the Exome Variant Server FHL1_000020 360/10563 5/6728 355/3835
1 c.343G>T r.(?) p.(Val115Leu) g.135289962G>T Copied from the Exome Variant Server FHL1_000021 1/10563 1/6728 0/3835
1 c.361G>A r.(?) p.(Val121Ile) g.135289980G>A Copied from the Exome Variant Server FHL1_000022 1/10563 0/6728 1/3835
1 c.441C>T r.(=) p.(=) g.135290060C>T Copied from the Exome Variant Server FHL1_000023 17/10563 16/6728 1/3835
1 c.450C>T r.(=) p.(=) g.135290069C>T Copied from the Exome Variant Server FHL1_000024 6/10563 0/6728 6/3835
1 c.486C>T r.(=) p.(=) g.135290105C>T Copied from the Exome Variant Server FHL1_000025 1/10563 1/6728 0/3835
1 c.502-23C>T r.(=) p.(=) g.135290591C>T Copied from the Exome Variant Server FHL1_000026 1/10563 1/6728 0/3835
1 c.502-13C>T r.(=) p.(=) g.135290601C>T Copied from the Exome Variant Server FHL1_000027 1/10563 0/6728 1/3835
1 c.502-10C>T r.(=) p.(=) g.135290604C>T Copied from the Exome Variant Server FHL1_000028 1/10563 1/6728 0/3835
1 c.603C>T r.(=) p.(=) g.135290715C>T Copied from the Exome Variant Server FHL1_000016 1/10563 1/6728 0/3835
1 c.688+4G>T r.spl? p.? g.135290804G>T Copied from the Exome Variant Server FHL1_000017 1/10563 1/6728 0/3835
1 c.688+8A>G r.(=) p.(=) g.135290808A>G Copied from the Exome Variant Server FHL1_000018 1/10563 0/6728 1/3835
1 c.688+27T>G r.(=) p.(=) g.135290827T>G Copied from the Exome Variant Server FHL1_000019 1/10562 0/6727 1/3835
1 c.688+44C>T r.(=) p.(=) g.135290844C>T Copied from the Exome Variant Server FHL1_000001 1/10561 0/6726 1/3835
1 c.688+45G>A r.(=) p.(=) g.135290845G>A Copied from the Exome Variant Server FHL1_000002 10/10561 1/6726 9/3835
1 c.689-594C>G r.(=) p.(=) g.135291436C>G Copied from the Exome Variant Server FHL1_000003 1/8125 1/5498 0/2627
1 c.689-572G>A r.(=) p.(=) g.135291458G>A Copied from the Exome Variant Server FHL1_000004 1/8125 1/5498 0/2627
1 c.689-557C>T r.(=) p.(=) g.135291473C>T Copied from the Exome Variant Server FHL1_000005 3/8125 1/5498 2/2627
1 c.689-483G>A r.(=) p.(=) g.135291547G>A Copied from the Exome Variant Server FHL1_000006 1/8125 1/5498 0/2627
1 c.689-32T>C r.(=) p.(=) g.135291998T>C Copied from the Exome Variant Server FHL1_000007 1/10555 1/6722 0/3833
1 c.689-30_689-28del r.(=) p.(=) g.135292000_135292002del Copied from the Exome Variant Server FHL1_000008 3/10197 3/6478 0/3719
1 c.689-13T>C r.(=) p.(=) g.135292017T>C Copied from the Exome Variant Server FHL1_000009 25/10563 24/6728 1/3835
1 c.689-8C>T r.(=) p.(=) g.135292022C>T Copied from the Exome Variant Server FHL1_000010 4065/10563 2958/6728 1107/3835
1 c.738C>T r.(=) p.(=) g.135292079C>T Copied from the Exome Variant Server FHL1_000011 10/10563 0/6728 10/3835
1 c.788G>A r.(?) p.(Arg263His) g.135292129G>A Copied from the Exome Variant Server FHL1_000012 1/10563 1/6728 0/3835
1 c.823G>A r.(?) p.(Asp275Asn) g.135292164G>A Copied from the Exome Variant Server FHL1_000013 138/10563 125/6728 13/3835
1 c.*16T>G r.(=) p.(=) g.135292200T>G Copied from the Exome Variant Server FHL1_000014 1/10563 1/6728 0/3835
1 c.*43G>A r.(=) p.(=) g.135292227G>A Copied from the Exome Variant Server FHL1_000015 21/10563 0/6728 21/3835
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