Full data view for gene DCAF12L1

Information The variants shown are described using the NM_178470.4 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-25C>T r.(=) p.(=) g.125686616G>A Copied from the Exome Variant Server DCAF12L1_000037 1/9610 1/6139 0/3471 - - - - - - -
?/? c.49G>C r.(?) p.(Glu17Gln) g.125686543C>G Copied from the Exome Variant Server DCAF12L1_000036 4/10091 0/6455 4/3636 - - - - - - -
?/? c.56A>G r.(?) p.(Asp19Gly) g.125686536T>C Copied from the Exome Variant Server DCAF12L1_000035 606/10051 173/6439 433/3612 - - - - - - -
?/? c.161A>C r.(?) p.(Tyr54Ser) g.125686431T>G Copied from the Exome Variant Server DCAF12L1_000034 1/10502 0/6679 1/3823 - - - - - - -
?/? c.209G>A r.(?) p.(Gly70Asp) g.125686383C>T Copied from the Exome Variant Server DCAF12L1_000033 2/10558 0/6724 2/3834 - - - - - - -
?/? c.237G>C r.(=) p.(=) g.125686355C>G Copied from the Exome Variant Server DCAF12L1_000032 19/10556 0/6722 19/3834 - - - - - - -
?/? c.240A>C r.(=) p.(=) g.125686352T>G Copied from the Exome Variant Server DCAF12L1_000031 21/10552 0/6721 21/3831 - - - - - - -
?/? c.269G>A r.(?) p.(Arg90His) g.125686323C>T Copied from the Exome Variant Server DCAF12L1_000030 1/10563 0/6728 1/3835 - - - - - - -
?/? c.286A>G r.(?) p.(Thr96Ala) g.125686306T>C Copied from the Exome Variant Server DCAF12L1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.125686301G>A Copied from the Exome Variant Server DCAF12L1_000028 5/10563 0/6728 5/3835 - - - - - - -
?/? c.383G>A r.(?) p.(Gly128Asp) g.125686209C>T Copied from the Exome Variant Server DCAF12L1_000027 2/10563 1/6728 1/3835 - - - - - - -
?/? c.392C>G r.(?) p.(Ala131Gly) g.125686200G>C Copied from the Exome Variant Server DCAF12L1_000026 7/10563 6/6728 1/3835 - - - - - - -
?/? c.403C>G r.(?) p.(Leu135Val) g.125686189G>C Copied from the Exome Variant Server DCAF12L1_000025 2/10563 2/6728 0/3835 - - - - - - -
?/? c.409C>T r.(?) p.(Arg137Trp) g.125686183G>A Copied from the Exome Variant Server DCAF12L1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.424A>G r.(?) p.(Arg142Gly) g.125686168T>C Copied from the Exome Variant Server DCAF12L1_000023 2/10563 0/6728 2/3835 - - - - - - -
?/? c.429G>C r.(=) p.(=) g.125686163C>G Copied from the Exome Variant Server DCAF12L1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.468G>A r.(=) p.(=) g.125686124C>T Copied from the Exome Variant Server DCAF12L1_000021 1/10563 1/6728 0/3835 - - - - - - -
?/? c.477C>T r.(=) p.(=) g.125686115G>A Copied from the Exome Variant Server DCAF12L1_000020 3/10563 3/6728 0/3835 - - - - - - -
?/? c.511C>G r.(?) p.(Pro171Ala) g.125686081G>C Copied from the Exome Variant Server DCAF12L1_000019 1/10562 0/6728 1/3834 - - - - - - -
?/? c.549T>C r.(=) p.(=) g.125686043A>G Copied from the Exome Variant Server DCAF12L1_000018 79/10563 0/6728 79/3835 - - - - - - -
?/? c.561G>A r.(=) p.(=) g.125686031C>T Copied from the Exome Variant Server DCAF12L1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.597C>A r.(=) p.(=) g.125685995G>T Copied from the Exome Variant Server DCAF12L1_000016 1/10560 1/6725 0/3835 - - - - - - -
?/? c.639C>T r.(=) p.(=) g.125685953G>A Copied from the Exome Variant Server DCAF12L1_000015 1/10542 0/6710 1/3832 - - - - - - -
?/? c.880G>A r.(?) p.(Ala294Thr) g.125685712C>T Copied from the Exome Variant Server DCAF12L1_000014 2/10563 0/6728 2/3835 - - - - - - -
?/? c.892C>G r.(?) p.(Leu298Val) g.125685700G>C Copied from the Exome Variant Server DCAF12L1_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.950A>G r.(?) p.(Asp317Gly) g.125685642T>C Copied from the Exome Variant Server DCAF12L1_000012 1/10563 0/6728 1/3835 - - - - - - -
?/? c.984C>T r.(=) p.(=) g.125685608G>A Copied from the Exome Variant Server DCAF12L1_000011 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1035T>C r.(=) p.(=) g.125685557A>G Copied from the Exome Variant Server DCAF12L1_000010 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1040G>A r.(?) p.(Arg347Gln) g.125685552C>T Copied from the Exome Variant Server DCAF12L1_000009 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1062G>T r.(=) p.(=) g.125685530C>A Copied from the Exome Variant Server DCAF12L1_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.125685503G>A Copied from the Exome Variant Server DCAF12L1_000007 65/10562 0/6727 65/3835 - - - - - - -
?/? c.1101C>T r.(=) p.(=) g.125685491G>A Copied from the Exome Variant Server DCAF12L1_000006 5/10563 0/6728 5/3835 - - - - - - -
?/? c.1137C>T r.(=) p.(=) g.125685455G>A Copied from the Exome Variant Server DCAF12L1_000005 63/10563 61/6728 2/3835 - - - - - - -
?/? c.1187G>C r.(?) p.(Gly396Ala) g.125685405C>G Copied from the Exome Variant Server DCAF12L1_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1299C>T r.(=) p.(=) g.125685293G>A Copied from the Exome Variant Server DCAF12L1_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1363C>T r.(?) p.(His455Tyr) g.125685229G>A Copied from the Exome Variant Server DCAF12L1_000002 6/10563 0/6728 6/3835 - - - - - - -
?/? c.*8C>T r.(=) p.(=) g.125685192G>A Copied from the Exome Variant Server DCAF12L1_000001 2/10563 2/6728 0/3835 - - - - - - -
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