Unique variants in gene UACA

Information The variants shown are described using the NM_001008224.1 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-1287T>C r.(=) p.(=) g.70995541A>G - UACA_000068 rs138664735 0.007752 4 516 4963 - - Admin
./. 1 - c.-1268_-1266del r.(=) p.(=) g.70995520_70995522del - UACA_000067 rs113551614 0.002193 1 456 700 1 - Admin
./. 1 - c.-29C>T r.(=) p.(=) g.70994283G>A - UACA_000066 rs6494889 0.149 77 516 4793 - - Admin
./. 1 - c.39+19T>C r.(=) p.(=) g.70994197A>G - UACA_000065 rs117448690 0.005814 3 516 4027 - - Admin
./. 1 - c.39+29A>G r.(=) p.(=) g.70994187T>C - UACA_000064 rs144911546 0.001938 1 516 3622 - - Admin
./. 1 - c.40-74_40-71del r.(=) p.(=) g.70992070_70992073del - UACA_000063 rs982250752 0.002193 1 456 700 1 - Admin
./. 1 - c.40-29A>G r.(=) p.(=) g.70992028T>C - UACA_000062 rs78588389 0.025 13 516 3463 - - Admin
./. 1 - c.40-6T>C r.(=) p.(=) g.70992005A>G - UACA_000061 rs1424400 0.095 49 516 5078 - - Admin
./. 1 - c.114C>G r.(=) p.(=) g.70991925G>C - UACA_000060 rs4776525 0.857 442 516 11403 - - Admin
./. 1 - c.262+38T>C r.(=) p.(=) g.70987318A>G - UACA_000059 rs74021839 0.014 7 516 1598 - - Admin
./. 1 - c.262+58T>C r.(=) p.(=) g.70987298A>G - UACA_000058 rs77869548 0.001946 1 514 1296 - - Admin
./. 1 - c.263-107_263-104del r.(=) p.(=) g.70983806_70983809del - UACA_000057 rs570306823 0.001938 1 516 5725 - - Admin
./. 1 - c.285T>C r.(=) p.(=) g.70983680A>G - UACA_000056 rs575121985 0.001938 1 516 5725 - - Admin
./. 1 - c.328-123A>G r.(=) p.(=) g.70982973T>C - UACA_000055 - 0.002193 1 456 700 1 - Admin
./. 1 - c.386-39A>T r.(=) p.(=) g.70980198T>A - UACA_000054 rs118122813 0.003876 2 516 4442 - - Admin
./. 1 - c.431G>A r.(?) p.(Gly144Glu) g.70980114C>T - UACA_000053 rs148128872 0.003876 2 516 7519 - - Admin
./. 1 - c.561C>T r.(=) p.(=) g.70979881G>A - UACA_000052 rs928634952 0.001938 1 516 8112 1 - Admin
./. 1 - c.563+47A>G r.(=) p.(=) g.70979832T>C - UACA_000051 rs117280349 0.025 13 516 5309 - - Admin
./. 1 - c.563+102T>C r.(=) p.(=) g.70979777A>G - UACA_000050 rs113584474 0.005814 3 516 2675 - - Admin
./. 1 - c.726A>G r.(=) p.(=) g.70976623T>C - UACA_000049 rs150361297 0.001938 1 516 8920 - - Admin
./. 1 - c.745+46G>A r.(=) p.(=) g.70976558C>T - UACA_000048 rs112062539 0.005814 3 516 5303 - - Admin
./. 1 - c.783+5A>G r.spl? p.? g.70975092T>C - UACA_000047 rs62016913 0.025 13 514 2205 - - Admin
./. 1 - c.784-55T>C r.(=) p.(=) g.70972070A>G - UACA_000046 rs112780181 0.003891 2 514 2314 - - Admin
./. 1 - c.784-24G>A r.(=) p.(=) g.70972039C>T - UACA_000045 rs747550279 0.003876 2 516 3501 - - Admin
./. 1 - c.852+108A>G r.(=) p.(=) g.70971839T>C - UACA_000044 rs111701801 0.005814 3 516 3286 - - Admin
./. 1 - c.852+154del r.(=) p.(=) g.70971793del - UACA_000043 rs113009669 0.004237 2 472 783 - - Admin
./. 1 - c.852+171T>C r.(=) p.(=) g.70971776A>G - UACA_000042 rs143815435 0.004237 2 472 783 - - Admin
./. 1 - c.852+201_852+202insTTTATTTA r.(=) p.(=) g.70971745_70971746insTAAATAAA - UACA_000040 rs67256203 - - - - - - Admin
./. 1 - c.852+201_852+202insTTTATTTATTTA r.(=) p.(=) g.70971745_70971746insTAAATAAATAAA - UACA_000041 rs67256203 - - - - - - Admin
./. 1 - c.852+202_852+205del r.(=) p.(=) g.70971742_70971745del - UACA_000039 rs67256203 - - - - - - Admin
./. 1 - c.933C>T r.(=) p.(=) g.70970465G>A - UACA_000038 rs61746369 0.007752 4 516 3595 - - Admin
./. 1 - c.935A>G r.(?) p.(Asn312Ser) g.70970463T>C - UACA_000037 rs61746365 0.017 9 516 3561 - - Admin
./. 1 - c.988A>G r.(?) p.(Ser330Gly) g.70969452T>C - UACA_000036 rs142271497 0.003876 2 516 3815 - - Admin
./. 1 - c.993+139G>C r.(=) p.(=) g.70969308C>G - UACA_000035 rs76682861 0.003906 2 512 1145 - - Admin
./. 1 - c.993+146A>G r.(=) p.(=) g.70969301T>C - UACA_000034 rs1234309513 0.002016 1 496 997 1 - Admin
./. 1 - c.994-23G>C r.(=) p.(=) g.70968953C>G - UACA_000033 rs878777 0.001938 1 516 3869 - - Admin
./. 1 - c.1129+30A>C r.(=) p.(=) g.70964274T>G - UACA_000032 rs62016910 0.039 20 516 3460 - - Admin
./. 1 - c.1129+56A>G r.(=) p.(=) g.70964248T>C - UACA_000031 rs77908267 0.045 23 516 2437 - - Admin
./. 1 - c.1168A>G r.(?) p.(Met390Val) g.70963392T>C - UACA_000030 rs150049035 0.003876 2 516 2409 - - Admin
./. 1 - c.1182+21del r.(=) p.(=) g.70963357del - UACA_000029 rs372164200 0.001938 1 516 2794 - - Admin
./. 1 - c.1182+79G>T r.(=) p.(=) g.70963299C>A - UACA_000028 - 0.001938 1 516 2794 1 - Admin
./. 1 - c.1183-9_1183-8insT r.(=) p.(=) g.70961809_70961810insA - UACA_000027 rs537603881 - - - - - - Admin
./. 1 - c.1262C>T r.(?) p.(Thr421Met) g.70961722G>A - UACA_000026 rs142769157 0.001938 1 516 4485 - - Admin
./. 1 - c.1318T>G r.(?) p.(Cys440Gly) g.70961666A>C - UACA_000025 rs551986241 0.001938 1 516 5675 - - Admin
./. 1 - c.1584A>G r.(=) p.(=) g.70961400T>C - UACA_000024 rs188217497 0.001938 1 516 8798 - - Admin
./. 1 - c.2299T>A r.(?) p.(Leu767Met) g.70960685A>T - UACA_000023 rs114734080 0.007752 4 516 7485 - - Admin
./. 1 - c.2419A>G r.(?) p.(Ile807Val) g.70960565T>C - UACA_000022 rs144149272 0.001938 1 516 8599 - - Admin
./. 1 - c.2562G>A r.(=) p.(=) g.70960422C>T - UACA_000021 rs61742861 0.005814 3 516 7674 - - Admin
./. 1 - c.2745C>T r.(=) p.(=) g.70960239G>A - UACA_000020 rs138757062 0.003876 2 516 6625 - - Admin
./. 1 - c.2762C>T r.(?) p.(Ser921Leu) g.70960222G>A - UACA_000019 rs142570134 0.003876 2 516 7160 - - Admin
./. 1 - c.2916C>T r.(=) p.(=) g.70960068G>A - UACA_000018 rs934005 0.707 365 516 7866 - - Admin
./. 1 - c.3159C>T r.(=) p.(=) g.70959825G>A - UACA_000017 rs151082439 0.001938 1 516 8971 - - Admin
./. 1 - c.3161A>C r.(?) p.(Glu1054Ala) g.70959823T>G - UACA_000016 rs144784600 0.001938 1 516 8967 - - Admin
./. 1 - c.3181G>T r.(?) p.(Asp1061Tyr) g.70959803C>A - UACA_000015 rs61729919 0.005814 3 516 9233 - - Admin
./. 1 - c.3273A>G r.(=) p.(=) g.70959711T>C - UACA_000014 rs60600939 0.005814 3 516 8915 - - Admin
./. 1 - c.3408G>A r.(=) p.(=) g.70959576C>T - UACA_000013 rs61746327 0.005814 3 516 7431 - - Admin
./. 1 - c.3921+119C>T r.(=) p.(=) g.70958944G>A - UACA_000012 rs62016909 0.007782 4 514 1771 - - Admin
./. 1 - c.3921+126C>T r.(=) p.(=) g.70958937G>A - UACA_000011 rs2241530 0.722 355 492 1409 - - Admin
./. 1 - c.3969T>C r.(=) p.(=) g.70957106A>G - UACA_000010 rs78551559 0.005814 3 516 3435 - - Admin
./. 1 - c.4074+87C>A r.(=) p.(=) g.70956914G>T - UACA_000009 rs76515938 0.005814 3 516 2430 - - Admin
./. 1 - c.4075-134G>T r.(=) p.(=) g.70952689C>A - UACA_000008 rs190258282 0.001938 1 516 1883 - - Admin
./. 1 - c.4140+27G>A r.(=) p.(=) g.70952463C>T - UACA_000007 rs117136117 0.007752 4 516 2273 - - Admin
./. 1 - c.4141-35A>T r.(=) p.(=) g.70949501T>A - UACA_000006 rs74021813 0.005814 3 516 4327 - - Admin
./. 1 - c.4141-4G>A r.spl? p.? g.70949470C>T - UACA_000005 rs372315286 0.001938 1 516 6271 - - Admin
./. 1 - c.4209C>T r.(=) p.(=) g.70949398G>A - UACA_000004 rs145929072 0.001938 1 516 8186 - - Admin
./. 1 - c.*3G>A r.(=) p.(=) g.70949392C>T - UACA_000003 rs141286633 0.001938 1 516 8378 - - Admin
./. 1 - c.*74T>C r.(=) p.(=) g.70949321A>G - UACA_000002 - 0.001938 1 516 7368 1 - Admin
./. 1 - c.*175C>T r.(=) p.(=) g.70949220G>A - UACA_000001 rs974792883 0.001976 1 506 1457 1 - Admin
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