Full data view for gene C1GALT1C1

Information The variants shown are described using the NM_152692.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.57T>C r.(=) p.(=) g.119760965A>G Copied from the Exome Variant Server C1GALT1C1_000021 1/10560 1/6727 0/3833 - - - - - - -
?/? c.65T>A r.(?) p.(Ile22Asn) g.119760957A>T Copied from the Exome Variant Server C1GALT1C1_000020 2/10560 2/6727 0/3833 - - - - - - -
?/? c.86G>T r.(?) p.(Arg29Met) g.119760936C>A Copied from the Exome Variant Server C1GALT1C1_000019 3/10563 0/6728 3/3835 - - - - - - -
?/? c.136G>A r.(?) p.(Ala46Thr) g.119760886C>T Copied from the Exome Variant Server C1GALT1C1_000018 1/10563 1/6728 0/3835 - - - - - - -
?/? c.152A>G r.(?) p.(Asp51Gly) g.119760870T>C Copied from the Exome Variant Server C1GALT1C1_000017 1/10563 0/6728 1/3835 - - - - - - -
?/? c.220C>A r.(?) p.(Leu74Ile) g.119760802G>T Copied from the Exome Variant Server C1GALT1C1_000016 1/10563 1/6728 0/3835 - - - - - - -
?/? c.302G>A r.(?) p.(Ser101Asn) g.119760720C>T Copied from the Exome Variant Server C1GALT1C1_000015 60/10563 57/6728 3/3835 - - - - - - -
?/? c.351C>A r.(?) p.(Asp117Glu) g.119760671G>T Copied from the Exome Variant Server C1GALT1C1_000014 1/10563 0/6728 1/3835 - - - - - - -
?/? c.393T>A r.(?) p.(Asp131Glu) g.119760629A>T Copied from the Exome Variant Server C1GALT1C1_000013 1688/10561 1532/6726 156/3835 - - - - - - -
?/? c.428C>T r.(?) p.(Ala143Val) g.119760594G>A Copied from the Exome Variant Server C1GALT1C1_000012 185/10561 167/6726 18/3835 - - - - - - -
?/? c.440C>T r.(?) p.(Thr147Met) g.119760582G>A Copied from the Exome Variant Server C1GALT1C1_000011 1/10562 1/6727 0/3835 - - - - - - -
?/? c.513C>A r.(?) p.(His171Gln) g.119760509G>T Copied from the Exome Variant Server C1GALT1C1_000010 2/10563 2/6728 0/3835 - - - - - - -
?/? c.573A>G r.(=) p.(=) g.119760449T>C Copied from the Exome Variant Server C1GALT1C1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.594C>T r.(=) p.(=) g.119760428G>A Copied from the Exome Variant Server C1GALT1C1_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.666G>C r.(?) p.(Gln222His) g.119760356C>G Copied from the Exome Variant Server C1GALT1C1_000007 1/10563 1/6728 0/3835 - - - - - - -
?/? c.755G>A r.(?) p.(Gly252Glu) g.119760267C>T Copied from the Exome Variant Server C1GALT1C1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.827T>C r.(?) p.(Val276Ala) g.119760195A>G Copied from the Exome Variant Server C1GALT1C1_000005 1/10563 1/6728 0/3835 - - - - - - -
?/? c.852T>C r.(=) p.(=) g.119760170A>G Copied from the Exome Variant Server C1GALT1C1_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.*23A>G r.(=) p.(=) g.119760042T>C Copied from the Exome Variant Server C1GALT1C1_000003 391/10560 354/6727 37/3833 - - - - - - -
?/? c.*34A>G r.(=) p.(=) g.119760031T>C Copied from the Exome Variant Server C1GALT1C1_000002 306/10555 30/6722 276/3833 - - - - - - -
?/? c.*39A>G r.(=) p.(=) g.119760026T>C Copied from the Exome Variant Server C1GALT1C1_000001 2/10554 1/6721 1/3833 - - - - - - -
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