Unique variants in gene QPCTL

Information The variants shown are described using the NM_017659.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.29G>C r.(?) p.(Arg10Pro) g.46195990G>C - QPCTL_000001 rs922122031 0.007752 4 516 9558 4 - Admin
./. 1 - c.208-37C>G r.(=) p.(=) g.46196634C>G - QPCTL_000002 rs2302593 0.502 258 514 2511 - - Admin
./. 1 - c.219C>T r.(=) p.(=) g.46196682C>T - QPCTL_000003 rs139470804 0.001938 1 516 5020 - - Admin
./. 1 - c.351+62C>A r.(=) p.(=) g.46196876C>A - QPCTL_000004 rs113111094 0.012 6 516 4859 - - Admin
./. 1 - c.482G>A r.(?) p.(Arg161His) g.46198825G>A - QPCTL_000005 rs80339864 0.001938 1 516 9367 - - Admin
./. 1 - c.633+103C>T r.(=) p.(=) g.46199079C>T - QPCTL_000006 rs559217074 0.003968 2 504 2337 - - Admin
./. 1 - c.633+131del r.(=) p.(=) g.46199107del - QPCTL_000007 rs34362798 0.007752 4 516 9558 4 - Admin
./. 1 - c.641C>T r.(?) p.(Pro214Leu) g.46201812C>T - QPCTL_000008 rs28708996 0.00969 5 516 7484 - - Admin
./. 1 - c.682C>A r.(?) p.(Leu228Met) g.46201853C>A - QPCTL_000009 rs542234819 0.001938 1 516 7831 - - Admin
./. 1 - c.786+42G>A r.(=) p.(=) g.46201999G>A - QPCTL_000010 rs918187808 0.003876 2 516 8309 2 - Admin
./. 1 - c.787-29G>T r.(=) p.(=) g.46202030G>T - QPCTL_000011 rs1240637841 0.001938 1 516 8140 1 - Admin
./. 1 - c.787-28C>A r.(=) p.(=) g.46202031C>A - QPCTL_000012 - 0.001938 1 516 8117 1 - Admin
./. 1 - c.886+14C>T r.(=) p.(=) g.46202172C>T - QPCTL_000013 rs2287019 0.172 89 516 4344 - - Admin
./. 1 - c.886+62C>T r.(=) p.(=) g.46202220C>T - QPCTL_000014 rs115348917 0.001938 1 516 2749 - - Admin
./. 1 - c.887-178T>C r.(=) p.(=) g.46204878T>C - QPCTL_000015 rs11083779 0.051 26 514 2755 - - Admin
./. 1 - c.887-118C>T r.(=) p.(=) g.46204938C>T - QPCTL_000016 rs4803847 0.983 507 516 5984 - - Admin
./. 1 - c.887-6T>C r.(=) p.(=) g.46205050T>C - QPCTL_000017 rs4803848 0.655 338 516 12103 - - Admin
./. 1 - c.1004-64G>A r.(=) p.(=) g.46206098G>A - QPCTL_000018 rs62111730 0.293 151 516 7404 - - Admin
./. 1 - c.1032G>A r.(=) p.(=) g.46206190G>A - QPCTL_000019 rs138046208 0.001938 1 516 9579 - - Admin
./. 1 - c.1045G>A r.(?) p.(Val349Ile) g.46206203G>A - QPCTL_000020 rs75750268 0.001938 1 516 9624 - - Admin
./. 1 - c.1061C>T r.(?) p.(Ala354Val) g.46206219C>T - QPCTL_000021 rs1193036091 0.001938 1 516 9676 1 - Admin
./. 1 - c.1091C>T r.(?) p.(Thr364Met) g.46206249C>T - QPCTL_000022 rs117220573 0.001938 1 516 9712 - - Admin
./. 1 - c.1104G>A r.(=) p.(=) g.46206262G>A - QPCTL_000023 rs17850756 0.248 128 516 12037 - - Admin
./. 1 - c.*118T>C r.(=) p.(=) g.46206425T>C - QPCTL_000024 rs11672416 0.09 46 512 3079 - - Admin
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