Full data view for gene CPXCR1

Information The variants shown are described using the NM_033048.5 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.-8-21_-8-20del r.(=) p.(=) g.88008387_88008388del Copied from the Exome Variant Server CPXCR1_000001 3/10067 1/6394 2/3673 - - - - - - -
?/? c.8A>C N/A N/A g.88008423A>C Copied from the Exome Variant Server CPXCR1_000002 9553/10549 5854/6719 3699/3830 - - - - - - -
?/? c.84T>C r.(=) p.(=) g.88008499T>C Copied from the Exome Variant Server CPXCR1_000003 1/10563 1/6728 0/3835 - - - - - - -
?/? c.86C>T r.(?) p.(Thr29Ile) g.88008501C>T Copied from the Exome Variant Server CPXCR1_000004 1/10563 0/6728 1/3835 - - - - - - -
?/? c.240A>G r.(=) p.(=) g.88008655A>G Copied from the Exome Variant Server CPXCR1_000005 2/10563 1/6728 1/3835 - - - - - - -
?/? c.263A>G r.(?) p.(Glu88Gly) g.88008678A>G Copied from the Exome Variant Server CPXCR1_000006 1/10563 1/6728 0/3835 - - - - - - -
?/? c.265_267del r.(?) p.(Leu92del) g.88008680_88008682del Copied from the Exome Variant Server CPXCR1_000007 3/10205 1/6484 2/3721 - - - - - - -
?/? c.298T>C r.(=) p.(=) g.88008713T>C Copied from the Exome Variant Server CPXCR1_000008 665/10563 10/6728 655/3835 - - - - - - -
?/? c.305C>A r.(?) p.(Ser102Tyr) g.88008720C>A Copied from the Exome Variant Server CPXCR1_000009 90/10563 1/6728 89/3835 - - - - - - -
?/? c.370T>A r.(?) p.(Phe124Ile) g.88008785T>A Copied from the Exome Variant Server CPXCR1_000010 23/10562 0/6727 23/3835 - - - - - - -
?/? c.389C>T r.(?) p.(Thr130Ile) g.88008804C>T Copied from the Exome Variant Server CPXCR1_000011 1/10563 1/6728 0/3835 - - - - - - -
?/? c.392G>A r.(?) p.(Arg131His) g.88008807G>A Copied from the Exome Variant Server CPXCR1_000012 3478/10563 2782/6728 696/3835 - - - - - - -
?/? c.420C>T r.(=) p.(=) g.88008835C>T Copied from the Exome Variant Server CPXCR1_000013 1/10563 0/6728 1/3835 - - - - - - -
?/? c.442A>T r.(?) p.(Ile148Leu) g.88008857A>T Copied from the Exome Variant Server CPXCR1_000014 1/10563 1/6728 0/3835 - - - - - - -
?/? c.530A>G r.(?) p.(Tyr177Cys) g.88008945A>G Copied from the Exome Variant Server CPXCR1_000015 4/10563 0/6728 4/3835 - - - - - - -
?/? c.536C>G r.(?) p.(Ala179Gly) g.88008951C>G Copied from the Exome Variant Server CPXCR1_000016 1/10563 0/6728 1/3835 - - - - - - -
?/? c.571G>A r.(?) p.(Glu191Lys) g.88008986G>A Copied from the Exome Variant Server CPXCR1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.592A>G r.(?) p.(Arg198Gly) g.88009007A>G Copied from the Exome Variant Server CPXCR1_000018 1/10563 0/6728 1/3835 - - - - - - -
?/? c.599C>T r.(?) p.(Ser200Leu) g.88009014C>T Copied from the Exome Variant Server CPXCR1_000019 1/10563 0/6728 1/3835 - - - - - - -
?/? c.617G>A r.(?) p.(Arg206His) g.88009032G>A Copied from the Exome Variant Server CPXCR1_000020 2/10563 2/6728 0/3835 - - - - - - -
?/? c.689G>A r.(?) p.(Arg230His) g.88009104G>A Copied from the Exome Variant Server CPXCR1_000022 1/10563 0/6728 1/3835 - - - - - - -
?/? c.715G>A r.(?) p.(Val239Met) g.88009130G>A Copied from the Exome Variant Server CPXCR1_000024 1/10563 0/6728 1/3835 - - - - - - -
?/? c.755G>C r.(?) p.(Gly252Ala) g.88009170G>C Copied from the Exome Variant Server CPXCR1_000025 96/10555 92/6721 4/3834 - - - - - - -
?/? c.788T>C r.(?) p.(Met263Thr) g.88009203T>C Copied from the Exome Variant Server CPXCR1_000026 8/10558 8/6725 0/3833 - - - - - - -
?/? c.832T>C r.(?) p.(Cys278Arg) g.88009247T>C Copied from the Exome Variant Server CPXCR1_000027 9/10553 0/6723 9/3830 - - - - - - -
?/? c.*1A>G r.(=) p.(=) g.88009322A>G Copied from the Exome Variant Server CPXCR1_000021 9442/10411 5825/6674 3617/3737 - - - - - - -
?/? c.*34C>G r.(=) p.(=) g.88009355C>G Copied from the Exome Variant Server CPXCR1_000023 12/9784 0/6443 12/3341 - - - - - - -
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