All transcript variants in gene HCCS

Information The variants shown are described using the NM_001122608.2 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.5G>A r.(?) p.(Gly2Asp) g.11130185G>A Copied from the Exome Variant Server HCCS_000001 23/10563 22/6728 1/3835
?/? c.49G>T r.(?) p.(Ala17Ser) g.11130229G>T Copied from the Exome Variant Server HCCS_000002 1/10563 1/6728 0/3835
?/? c.78G>A r.(=) p.(=) g.11130258G>A Copied from the Exome Variant Server HCCS_000003 1/10563 1/6728 0/3835
?/? c.100+8G>A r.(=) p.(=) g.11130288G>A Copied from the Exome Variant Server HCCS_000004 2/10563 0/6728 2/3835
?/? c.100+9C>T r.(=) p.(=) g.11130289C>T Copied from the Exome Variant Server HCCS_000005 1/10563 0/6728 1/3835
?/? c.100+30A>G r.(=) p.(=) g.11130310A>G Copied from the Exome Variant Server HCCS_000006 3/10563 3/6728 0/3835
?/? c.101-11G>C r.(=) p.(=) g.11132944G>C Copied from the Exome Variant Server HCCS_000007 1/10563 1/6728 0/3835
?/? c.176G>A r.(?) p.(Arg59His) g.11133030G>A Copied from the Exome Variant Server HCCS_000008 1/10563 1/6728 0/3835
?/? c.177C>T r.(=) p.(=) g.11133031C>T Copied from the Exome Variant Server HCCS_000009 1/10563 1/6728 0/3835
?/? c.189C>T r.(=) p.(=) g.11133043C>T Copied from the Exome Variant Server HCCS_000010 18/10563 0/6728 18/3835
?/? c.215C>T r.(?) p.(Ala72Val) g.11133069C>T Copied from the Exome Variant Server HCCS_000011 230/10563 216/6728 14/3835
?/? c.216G>C r.(=) p.(=) g.11133070G>C Copied from the Exome Variant Server HCCS_000012 12/10563 12/6728 0/3835
?/? c.244T>C r.(?) p.(Ser82Pro) g.11133098T>C Copied from the Exome Variant Server HCCS_000013 1/10563 1/6728 0/3835
?/? c.252+23T>C r.(=) p.(=) g.11133129T>C Copied from the Exome Variant Server HCCS_000014 12/10563 0/6728 12/3835
?/? c.252+48C>T r.(=) p.(=) g.11133154C>T Copied from the Exome Variant Server HCCS_000015 1/10552 1/6720 0/3832
?/? c.274C>A r.(?) p.(Pro92Thr) g.11135408C>A Copied from the Exome Variant Server HCCS_000016 1/10563 0/6728 1/3835
?/? c.316G>C r.(?) p.(Glu106Gln) g.11135450G>C Copied from the Exome Variant Server HCCS_000017 1/10563 1/6728 0/3835
?/? c.474C>T r.(=) p.(=) g.11136693C>T Copied from the Exome Variant Server HCCS_000018 1/10563 1/6728 0/3835
?/? c.521C>T r.(?) p.(Ala174Val) g.11136740C>T Copied from the Exome Variant Server HCCS_000019 1/10563 0/6728 1/3835
?/? c.521+7A>G r.(=) p.(=) g.11136747A>G Copied from the Exome Variant Server HCCS_000020 1/10563 1/6728 0/3835
?/? c.521+33C>A r.(=) p.(=) g.11136773C>A Copied from the Exome Variant Server HCCS_000021 4/10563 0/6728 4/3835
?/? c.522-45A>G r.(=) p.(=) g.11138982A>G Copied from the Exome Variant Server HCCS_000022 9/10563 9/6728 0/3835
?/? c.573_574insTAT r.(?) p.(Tyr192dup) g.11139078_11139079insTAT Copied from the Exome Variant Server HCCS_000023 2/10205 1/6484 1/3721
?/? c.732C>T r.(=) p.(=) g.11139855C>T Copied from the Exome Variant Server HCCS_000024 2/10563 1/6728 1/3835
?/? c.763G>A r.(?) p.(Val255Ile) g.11139886G>A Copied from the Exome Variant Server HCCS_000025 2/10563 2/6728 0/3835
?/? c.794G>A r.(?) p.(Arg265His) g.11139917G>A Copied from the Exome Variant Server HCCS_000026 1/10563 1/6728 0/3835
?/? c.*17_*18insA r.(=) p.(=) g.11139947_11139948insA Copied from the Exome Variant Server HCCS_000027 3/10205 3/6484 0/3721
?/? c.*26A>G r.(=) p.(=) g.11139956A>G Copied from the Exome Variant Server HCCS_000028 1/10563 1/6728 0/3835
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