Full data view for gene FAM9C

Information The variants shown are described using the NM_174901.5 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-41G>A r.(=) p.(=) g.13061949C>T Copied from the Exome Variant Server FAM9C_000036 1/10563 0/6728 1/3835 - - - - - - -
?/? c.-21G>A r.(=) p.(=) g.13061929C>T Copied from the Exome Variant Server FAM9C_000035 1/10563 1/6728 0/3835 - - - - - - -
?/? c.-9G>A r.(=) p.(=) g.13061917C>T Copied from the Exome Variant Server FAM9C_000034 2/10563 0/6728 2/3835 - - - - - - -
?/? c.40G>T r.(?) p.(Ala14Ser) g.13061869C>A Copied from the Exome Variant Server FAM9C_000033 1/10563 0/6728 1/3835 - - - - - - -
?/? c.55C>T r.(?) p.(Leu19Phe) g.13061854G>A Copied from the Exome Variant Server FAM9C_000032 1/10563 1/6728 0/3835 - - - - - - -
?/? c.61+1G>A r.spl? p.? g.13061847C>T Copied from the Exome Variant Server FAM9C_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.61+22C>A r.(=) p.(=) g.13061826G>T Copied from the Exome Variant Server FAM9C_000030 2/10563 0/6728 2/3835 - - - - - - -
?/? c.61+37C>G r.(=) p.(=) g.13061811G>C Copied from the Exome Variant Server FAM9C_000029 23/10563 0/6728 23/3835 - - - - - - -
?/? c.62-25G>T r.(=) p.(=) g.13061392C>A Copied from the Exome Variant Server FAM9C_000028 2/10563 2/6728 0/3835 - - - - - - -
?/? c.132T>G r.(=) p.(=) g.13061297A>C Copied from the Exome Variant Server FAM9C_000027 9/10563 0/6728 9/3835 - - - - - - -
?/? c.145G>A r.(?) p.(Glu49Lys) g.13061284C>T Copied from the Exome Variant Server FAM9C_000026 3/10563 0/6728 3/3835 - - - - - - -
?/? c.182+34A>G r.(=) p.(=) g.13061213T>C Copied from the Exome Variant Server FAM9C_000025 1/10563 1/6728 0/3835 - - - - - - -
?/? c.183-20G>T r.(=) p.(=) g.13061088C>A Copied from the Exome Variant Server FAM9C_000024 19/10563 18/6728 1/3835 - - - - - - -
?/? c.183-4A>T r.spl? p.? g.13061072T>A Copied from the Exome Variant Server FAM9C_000023 1/10563 0/6728 1/3835 - - - - - - -
?/? c.183-3C>A r.spl? p.? g.13061071G>T Copied from the Exome Variant Server FAM9C_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.193A>G r.(?) p.(Lys65Glu) g.13061058T>C Copied from the Exome Variant Server FAM9C_000021 5/10563 0/6728 5/3835 - - - - - - -
?/? c.214+65G>T r.(=) p.(=) g.13060972C>A Copied from the Exome Variant Server FAM9C_000020 15/3600 0/2391 15/1209 - - - - - - -
?/? c.217G>A r.(?) p.(Asp73Asn) g.13058989C>T Copied from the Exome Variant Server FAM9C_000019 1/10554 0/6721 1/3833 - - - - - - -
?/? c.272C>T r.(?) p.(Ala91Val) g.13058934G>A Copied from the Exome Variant Server FAM9C_000018 9/10554 8/6721 1/3833 - - - - - - -
?/? c.279C>T r.(=) p.(=) g.13058927G>A Copied from the Exome Variant Server FAM9C_000017 1/10553 0/6720 1/3833 - - - - - - -
?/? c.295A>G r.(?) p.(Ile99Val) g.13058911T>C Copied from the Exome Variant Server FAM9C_000016 1/10555 0/6722 1/3833 - - - - - - -
?/? c.319C>T r.(?) p.(Gln107*) g.13058887G>A Copied from the Exome Variant Server FAM9C_000015 2/10554 2/6721 0/3833 - - - - - - -
?/? c.330-12_330-10del r.(=) p.(=) g.13058045_13058047del Copied from the Exome Variant Server FAM9C_000014 3/10203 2/6482 1/3721 - - - - - - -
?/? c.330-10T>C r.(=) p.(=) g.13058045A>G Copied from the Exome Variant Server FAM9C_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.330-2A>G r.spl? p.? g.13058037T>C Copied from the Exome Variant Server FAM9C_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.337C>T r.(?) p.(Arg113Cys) g.13058028G>A Copied from the Exome Variant Server FAM9C_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.345T>C r.(=) p.(=) g.13058020A>G Copied from the Exome Variant Server FAM9C_000010 3/10563 0/6728 3/3835 - - - - - - -
?/? c.439-51A>G r.(=) p.(=) g.13056673T>C Copied from the Exome Variant Server FAM9C_000009 2/10536 0/6707 2/3829 - - - - - - -
?/? c.439-32A>G r.(=) p.(=) g.13056654T>C Copied from the Exome Variant Server FAM9C_000008 4136/10563 3267/6728 869/3835 - - - - - - -
?/? c.439-26A>C r.(=) p.(=) g.13056648T>G Copied from the Exome Variant Server FAM9C_000007 2/10563 2/6728 0/3835 - - - - - - -
?/? c.451G>A r.(?) p.(Glu151Lys) g.13056610C>T Copied from the Exome Variant Server FAM9C_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.453G>A r.(=) p.(=) g.13056608C>T Copied from the Exome Variant Server FAM9C_000005 10/10563 0/6728 10/3835 - - - - - - -
?/? c.457C>T r.(?) p.(Gln153*) g.13056604G>A Copied from the Exome Variant Server FAM9C_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.466T>G r.(?) p.(Trp156Gly) g.13056595A>C Copied from the Exome Variant Server FAM9C_000003 1/10563 0/6728 1/3835 - - - - - - -
?/? c.*10C>T r.(=) p.(=) g.13056550G>A Copied from the Exome Variant Server FAM9C_000002 144/10563 2/6728 142/3835 - - - - - - -
?/? c.*25+27G>A r.(=) p.(=) g.13056508C>T Copied from the Exome Variant Server FAM9C_000001 2/8125 2/5498 0/2627 - - - - - - -
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