Unique variants in gene QPRT

Information The variants shown are described using the NM_014298.3 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-114G>A r.(=) p.(=) g.29690405G>A - QPRT_000012 rs371033269 0.003876 2 516 4863 - - Admin
./. 1 - c.-60G>A r.(=) p.(=) g.29690459G>A - QPRT_000001 rs765332740 0.001938 1 516 8171 - - Admin
./. 1 - c.13+87del r.(=) p.(=) g.29690618del - QPRT_000002 rs1045730045 0.001938 1 516 9719 1 - Admin
./. 1 - c.14-131C>T r.(=) p.(=) g.29705854C>T - QPRT_000003 rs9936468 0.989 465 470 1261 - - Admin
./. 1 - c.14-11_14-10insT r.(=) p.(=) g.29705974_29705975insT - QPRT_000004 rs140872647 - - - - - - Admin
./. 1 - c.400G>A r.(?) p.(Val134Met) g.29706371G>A - QPRT_000005 rs114534146 0.001938 1 516 8714 - - Admin
./. 1 - c.408C>T r.(=) p.(=) g.29706379C>T - QPRT_000006 rs113148463 0.007752 4 516 8864 - - Admin
./. 1 - c.471C>T r.(=) p.(=) g.29706442C>T - QPRT_000007 rs200392225 0.003876 2 516 9265 - - Admin
./. 1 - c.473C>T r.(?) p.(Ala158Val) g.29706444C>T - QPRT_000008 rs2303255 0.13 67 516 10039 - - Admin
./. 1 - c.583A>G r.(?) p.(Thr195Ala) g.29708350A>G - QPRT_000009 rs9932770 1 516 516 4369 - - Admin
./. 1 - c.774G>C r.(?) p.(Gln258His) g.29708612G>C - QPRT_000010 rs145579996 0.001938 1 516 9409 - - Admin
./. 1 - c.839del r.(?) p.(Asp280Valfs*44) g.29708677del - QPRT_000011 - 0.001938 1 516 9719 1 - Admin
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