All transcript variants in gene C1orf52

Information The variants shown are described using the NM_198077.3 transcript reference sequence.

26 entries on 1 page. Showing entries 1 - 26.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-44_-38del r.(=) p.(=) g.85725354_85725360del Copied from the Exome Variant Server C1orf52_000018 3492/9568 2245/6354 1247/3214
?/? c.-17T>C r.(=) p.(=) g.85725333A>G Copied from the Exome Variant Server C1orf52_000017 20/12506 0/8258 20/4248
?/? c.6A>G r.(=) p.(=) g.85725311T>C Copied from the Exome Variant Server C1orf52_000015 1/12906 1/8524 0/4382
?/? c.15G>A r.(=) p.(=) g.85725302C>T Copied from the Exome Variant Server C1orf52_000014 3/12978 0/8580 3/4398
?/? c.25C>T r.(=) p.(=) g.85725292G>A Copied from the Exome Variant Server C1orf52_000013 1/12994 1/8592 0/4402
?/? c.52A>C r.(?) p.(Ser18Arg) g.85725265T>G Copied from the Exome Variant Server C1orf52_000012 1/13006 1/8600 0/4406
?/? c.72C>A r.(?) p.(Asp24Glu) g.85725245G>T Copied from the Exome Variant Server C1orf52_000011 1/13006 0/8600 1/4406
?/? c.107G>T r.(?) p.(Arg36Leu) g.85725210C>A Copied from the Exome Variant Server C1orf52_000010 1/13006 1/8600 0/4406
?/? c.156G>A r.(=) p.(=) g.85725161C>T Copied from the Exome Variant Server C1orf52_000009 2/13006 1/8600 1/4406
?/? c.199A>G r.(?) p.(Thr67Ala) g.85725118T>C Copied from the Exome Variant Server C1orf52_000008 7/13006 0/8600 7/4406
?/? c.276+5G>A r.spl? p.? g.85725036C>T Copied from the Exome Variant Server C1orf52_000007 1/13006 0/8600 1/4406
?/? c.276+6G>A r.(=) p.(=) g.85725035C>T Copied from the Exome Variant Server C1orf52_000006 1/13006 0/8600 1/4406
?/? c.276+9C>A r.(=) p.(=) g.85725032G>T Copied from the Exome Variant Server C1orf52_000005 542/13006 484/8600 58/4406
?/? c.276+48C>G r.(=) p.(=) g.85724993G>C Copied from the Exome Variant Server C1orf52_000004 1/12996 1/8594 0/4402
?/? c.277-22T>G r.(=) p.(=) g.85724427A>C Copied from the Exome Variant Server C1orf52_000003 9/13004 7/8600 2/4404
?/? c.354G>A r.(=) p.(=) g.85724328C>T Copied from the Exome Variant Server C1orf52_000002 2345/13006 1747/8600 598/4406
?/? c.357T>C r.(=) p.(=) g.85724325A>G Copied from the Exome Variant Server C1orf52_000001 3/13006 3/8600 0/4406
?/? c.366T>G r.(=) p.(=) g.85724316A>C Copied from the Exome Variant Server C1orf52_000026 1/13006 1/8600 0/4406
?/? c.393A>G r.(?) p.(Ile131Met) g.85724289T>C Copied from the Exome Variant Server C1orf52_000025 4/13006 0/8600 4/4406
?/? c.399G>A r.(=) p.(=) g.85724283C>T Copied from the Exome Variant Server C1orf52_000024 264/13006 246/8600 18/4406
?/? c.411T>C r.(=) p.(=) g.85724271A>G Copied from the Exome Variant Server C1orf52_000023 1/13006 1/8600 0/4406
?/? c.465G>T r.(=) p.(=) g.85724217C>A Copied from the Exome Variant Server C1orf52_000022 1/13006 0/8600 1/4406
?/? c.475+14G>A r.(=) p.(=) g.85724193C>T Copied from the Exome Variant Server C1orf52_000021 1/13006 1/8600 0/4406
?/? c.475+29C>G r.(=) p.(=) g.85724178G>C Copied from the Exome Variant Server C1orf52_000020 2/13006 1/8600 1/4406
?/? c.475+31A>G r.(=) p.(=) g.85724176T>C Copied from the Exome Variant Server C1orf52_000019 1/13006 1/8600 0/4406
?/? c.521C>T r.(?) p.(Pro174Leu) g.85718340G>A Copied from the Exome Variant Server C1orf52_000016 2/12998 2/8594 0/4404
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