All transcript variants in gene UBA6

Information The variants shown are described using the NM_018227.5 transcript reference sequence.

90 entries on 1 page. Showing entries 1 - 90.
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Effect     

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     
./. - c.-42_-41insC r.(=) p.(=) g.68566878_68566879insG - UBA6_000090 rs386400379 - - - - - - Admin
./. - c.71+78C>T r.(=) p.(=) g.68566689G>A - UBA6_000089 rs78578320 0.157 81 516 5300 - - Admin
./. - c.71+94G>T r.(=) p.(=) g.68566673C>A - UBA6_000088 rs371590959 0.001938 1 516 4431 - - Admin
./. - c.71+162C>T r.(=) p.(=) g.68566605G>A - UBA6_000087 rs1354203105 0.003906 2 512 1615 2 0 Admin
./. - c.72-50A>G r.(=) p.(=) g.68562475T>C - UBA6_000086 rs192684790 0.001946 1 514 2341 - - Admin
./. - c.132T>C r.(=) p.(=) g.68562365A>G - UBA6_000085 rs17572160 0.178 92 516 8185 - - Admin
./. - c.134+121G>A r.(=) p.(=) g.68562242C>T - UBA6_000084 rs202170642 0.005814 3 516 5990 - - Admin
./. - c.134+123_134+124del r.(=) p.(=) g.68562239_68562240del - UBA6_000082 rs1257107364 0.002294 1 436 1140 1 0 Admin
./. - c.134+123_134+124dup r.(=) p.(=) g.68562239_68562240dup - UBA6_000083 rs1257107364 0.002294 1 436 1140 1 0 Admin
./. - c.134+123_134+126del r.(=) p.(=) g.68562237_68562240del - UBA6_000080 rs1257107364 0.002294 1 436 1140 1 0 Admin
./. - c.134+123_134+126dup r.(=) p.(=) g.68562237_68562240dup - UBA6_000081 rs1257107364 0.002294 1 436 1140 1 0 Admin
./. - c.134+138T>C r.(=) p.(=) g.68562225A>G - UBA6_000079 rs150721497 0.001938 1 516 4644 - - Admin
./. - c.134+154_134+155insAT r.(=) p.(=) g.68562208_68562209insAT - UBA6_000078 rs200504164 - - - - - - Admin
./. - c.134+186_134+187insGTGT r.(=) p.(=) g.68562176_68562177insACAC - UBA6_000077 rs10660788 - - - - - - Admin
./. - c.134+201A>G r.(=) p.(=) g.68562162T>C - UBA6_000076 - 0.002294 1 436 1140 1 0 Admin
./. - c.135-76A>C r.(=) p.(=) g.68548007T>G - UBA6_000075 rs191588132 0.004425 2 452 631 - - Admin
./. - c.229+27_229+28insGTA r.(=) p.(=) g.68547809_68547810insTAC - UBA6_000074 rs34482936 - - - - - - Admin
./. - c.229+63T>G r.(=) p.(=) g.68547774A>C - UBA6_000073 rs2627256 0.115 59 512 1818 - - Admin
./. - c.230-111G>A r.(=) p.(=) g.68547420C>T - UBA6_000072 rs111706810 0.005814 3 516 1998 - - Admin
./. - c.230-103A>G r.(=) p.(=) g.68547412T>C - UBA6_000071 rs116167813 0.005814 3 516 2303 - - Admin
./. - c.230-39C>T r.(=) p.(=) g.68547348G>A - UBA6_000070 rs74384913 0.001938 1 516 4434 - - Admin
./. - c.258+48del r.(=) p.(=) g.68547233del - UBA6_000069 rs773630018 - - - - - - Admin
./. - c.258+115_258+116insT r.(=) p.(=) g.68547165_68547166insA - UBA6_000068 rs11394457 - - - - - - Admin
./. - c.258+123_258+124insA r.(=) p.(=) g.68547157_68547158insT - UBA6_000067 rs200361645 - - - - - - Admin
./. - c.259-95A>C r.(=) p.(=) g.68544346T>G - UBA6_000066 rs141046859 0.003876 2 516 1966 - - Admin
./. - c.259-67G>A r.(=) p.(=) g.68544318C>T - UBA6_000065 rs28483797 0.351 181 516 2833 - - Admin
./. - c.465+64A>G r.(=) p.(=) g.68543265T>C - UBA6_000064 rs114614906 0.007782 4 514 3097 - - Admin
./. - c.465+89G>A r.(=) p.(=) g.68543240C>T - UBA6_000063 rs17571825 0.169 86 510 1973 - - Admin
./. - c.465+108A>C r.(=) p.(=) g.68543221T>G - UBA6_000062 rs75698186 0.007874 4 508 1481 - - Admin
./. - c.466-102A>T r.(=) p.(=) g.68539597T>A - UBA6_000061 rs113320248 0.002212 1 452 650 - - Admin
./. - c.466-45del r.(=) p.(=) g.68539540del - UBA6_000060 rs112890671 0.001938 1 516 3008 - - Admin
./. - c.466-7T>C r.(=) p.(=) g.68539502A>G - UBA6_000059 rs1216733032 0.001938 1 516 3008 1 0 Admin
./. - c.546+12A>G r.(=) p.(=) g.68539403T>C - UBA6_000058 rs62303093 0.079 41 516 4242 - - Admin
./. - c.670-50_670-48del r.(=) p.(=) g.68534440_68534442del - UBA6_000057 rs111235920 0.178 92 516 5792 - - Admin
./. - c.670G>A r.(?) p.(Ala224Thr) g.68534392C>T - UBA6_000056 rs10010188 0.178 92 516 5792 - - Admin
./. - c.794-131_794-129del r.(=) p.(=) g.68531139_68531141del - UBA6_000055 rs1387295983 0.001938 1 516 2167 1 0 Admin
./. - c.794-19T>A r.(=) p.(=) g.68531029A>T - UBA6_000054 rs188527412 0.001938 1 516 2140 - - Admin
./. - c.897+28del r.(=) p.(=) g.68530879del - UBA6_000053 rs201525498 0.023 12 516 2589 - - Admin
./. - c.898-77G>A r.(=) p.(=) g.68529742C>T - UBA6_000052 rs75235695 0.023 12 516 2589 - - Admin
./. - c.960+28G>C r.(=) p.(=) g.68529575C>G - UBA6_000051 rs115780751 0.003876 2 516 8597 - - Admin
./. - c.960+200del r.(=) p.(=) g.68529403del - UBA6_000050 rs369329408 0.007752 4 516 4094 - - Admin
./. - c.961-23C>T r.(=) p.(=) g.68528956G>A - UBA6_000049 rs17571190 0.007752 4 516 4094 - - Admin
./. - c.1038-88A>G r.(=) p.(=) g.68528061T>C - UBA6_000048 rs111605195 0.004 2 500 1048 - - Admin
./. - c.1038-51T>C r.(=) p.(=) g.68528024A>G - UBA6_000047 rs979031961 0.001938 1 516 2167 1 0 Admin
./. - c.1038-43A>C r.(=) p.(=) g.68528016T>G - UBA6_000046 rs367723525 0.001938 1 516 2446 - - Admin
./. - c.1104+130G>T r.(=) p.(=) g.68527777C>A - UBA6_000045 rs75982882 0.007782 4 514 1682 - - Admin
./. - c.1105-125T>C r.(=) p.(=) g.68515054A>G - UBA6_000044 rs6840867 0.118 47 398 670 - - Admin
./. - c.1105-92T>C r.(=) p.(=) g.68515021A>G - UBA6_000043 rs778680155 0.006148 3 488 1075 - - Admin
./. - c.1248+37G>A r.(=) p.(=) g.68514749C>T - UBA6_000042 rs371294558 0.001938 1 516 2667 - - Admin
./. - c.1248+47A>G r.(=) p.(=) g.68514739T>C - UBA6_000041 rs3849642 0.154 79 514 2273 - - Admin
./. - c.1316+190A>G r.(=) p.(=) g.68512252T>C - UBA6_000040 rs17633426 0.079 34 430 727 - - Admin
./. - c.1395+45G>A r.(=) p.(=) g.68511611C>T - UBA6_000039 rs143114196 0.001938 1 516 2548 - - Admin
./. - c.1396-102del r.(=) p.(=) g.68510598del - UBA6_000038 rs143223029 0.001938 1 516 3656 - - Admin
./. - c.1470A>G r.(=) p.(=) g.68510422T>C - UBA6_000037 rs111297978 0.001938 1 516 3656 - - Admin
./. - c.1471_1472insAAAG r.(?) p.(Gly491Glufs*10) g.68510420_68510421insCTTT - UBA6_000036 - - - - - - - Admin
./. - c.1554+52T>C r.(=) p.(=) g.68506817A>G - UBA6_000035 rs372411666 0.003876 2 516 3085 - - Admin
./. - c.1737-96del r.(=) p.(=) g.68501372del - UBA6_000034 rs34759035 0.007752 4 516 2589 - - Admin
./. - c.1737-43A>T r.(=) p.(=) g.68501319T>A - UBA6_000033 rs74755123 0.007752 4 516 2589 - - Admin
./. - c.1908T>C r.(=) p.(=) g.68500171A>G - UBA6_000032 rs10008910 0.18 93 516 3397 - - Admin
./. - c.2014-109G>A r.(=) p.(=) g.68499300C>T - UBA6_000031 rs1487381 0.007752 4 516 2318 - - Admin
./. - c.2172G>T r.(=) p.(=) g.68497597C>A - UBA6_000030 rs77075932 0.143 74 516 2641 - - Admin
./. - c.2180G>A r.(?) p.(Arg727Gln) g.68497589C>T - UBA6_000029 rs200739751 0.001938 1 516 2654 - - Admin
./. - c.2224C>G r.(?) p.(Pro742Ala) g.68497460G>C - UBA6_000028 - 0.001938 1 516 2991 1 0 Admin
./. - c.2258+37A>T r.(=) p.(=) g.68497389T>A - UBA6_000027 rs72642357 0.15 77 514 2386 - - Admin
./. - c.2258+39A>G r.(=) p.(=) g.68497387T>C - UBA6_000026 rs116092571 0.00969 5 516 2404 - - Admin
./. - c.2258+93C>T r.(=) p.(=) g.68497333G>A - UBA6_000025 rs4146407 0.167 86 516 2839 - - Admin
./. - c.2259-31del r.(=) p.(=) g.68496284del - UBA6_000024 rs539079708 0.001938 1 516 4288 - - Admin
./. - c.2274T>G r.(=) p.(=) g.68496238A>C - UBA6_000023 rs1038450471 0.001938 1 516 4288 1 0 Admin
./. - c.2278A>C r.(?) p.(Asn760His) g.68496234T>G - UBA6_000022 rs140006149 0.001938 1 516 4450 - - Admin
./. - c.2328+104C>T r.(=) p.(=) g.68496080G>A - UBA6_000021 rs354866 0.884 456 516 3133 - - Admin
./. - c.2328+195G>A r.(=) p.(=) g.68495989C>T - UBA6_000020 rs114758459 0.004255 2 470 789 - - Admin
./. - c.2400+207T>C r.(=) p.(=) g.68494582A>G - UBA6_000019 rs12509166 0.003937 2 508 1108 - - Admin
./. - c.2401-106T>A r.(=) p.(=) g.68492301A>T - UBA6_000018 rs12506872 0.144 55 382 551 - - Admin
./. - c.2401-50_2401-49insTT r.(=) p.(=) g.68492244_68492245insAA - UBA6_000017 rs35602179 - - - - - - Admin
./. - c.2518+18T>C r.(=) p.(=) g.68492060A>G - UBA6_000016 rs34742870 0.174 90 516 2601 - - Admin
./. - c.2518+101_2518+103del r.(=) p.(=) g.68491975_68491977del - UBA6_000015 rs562743078 0.176 91 516 3453 - - Admin
./. - c.2712+62C>T r.(=) p.(=) g.68490650G>A - UBA6_000014 rs12508337 0.176 91 516 3453 - - Admin
./. - c.2712+103G>A r.(=) p.(=) g.68490609C>T - UBA6_000013 rs184306198 0.001946 1 514 2227 - - Admin
./. - c.2713-151C>T r.(=) p.(=) g.68490122G>A - UBA6_000012 rs12331690 0.132 63 476 946 - - Admin
./. - c.2713-126A>C r.(=) p.(=) g.68490097T>G - UBA6_000010 rs4860854 0.157 80 508 1543 - - Admin
./. - c.2713-126A>G r.(=) p.(=) g.68490097T>C - UBA6_000011 rs4860854 0.014 7 508 1543 - - Admin
./. - c.2713-73G>A r.(=) p.(=) g.68490044C>T - UBA6_000009 rs10454252 0.36 185 514 3688 - - Admin
./. - c.2713-48G>A r.(=) p.(=) g.68490019C>T - UBA6_000008 rs10454253 0.18 93 516 4884 - - Admin
./. - c.2841-68_2841-67insT r.(=) p.(=) g.68489007_68489008insA - UBA6_000007 rs3830312 - - - - - - Admin
./. - c.2901C>A r.(=) p.(=) g.68488880G>T - UBA6_000006 rs138614455 0.001938 1 516 3834 - - Admin
./. - c.2929-95A>G r.(=) p.(=) g.68488738T>C - UBA6_000005 rs187448770 0.003876 2 516 2419 - - Admin
./. - c.3023+45G>A r.(=) p.(=) g.68488504C>T - UBA6_000004 rs199577607 0.001938 1 516 4477 - - Admin
./. - c.3024-56C>A r.(=) p.(=) g.68484906G>T - UBA6_000003 rs28673851 0.002083 1 480 1062 - - Admin
./. - c.3037G>T r.(?) p.(Val1013Leu) g.68484837C>A - UBA6_000002 rs111757763 0.014 7 516 3278 - - Admin
./. - c.*78A>C r.(=) p.(=) g.68484637T>G - UBA6_000001 rs987353156 0.001938 1 516 4254 1 0 Admin
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