All transcript variants in gene COLQ

Information The variants shown are described using the NM_005677.3 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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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.-96C>T r.(=) p.(=) g.15563228G>A - COLQ_000078 rs151131743 0.002058 1 486 1351 - - Admin
./. - c.-46G>A r.(=) p.(=) g.15563178C>T - COLQ_000077 rs73033051 0.085 44 516 2310 - - Admin
./. - c.106+196G>A r.(=) p.(=) g.15562831C>T - COLQ_000076 rs17041264 0.048 24 502 1211 - - Admin
./. - c.107-9014G>A r.(=) p.(=) g.15540158C>T - COLQ_000075 rs182865456 0.003876 2 516 4799 - - Admin
./. - c.107-9012C>T r.(=) p.(=) g.15540156G>A - COLQ_000074 rs56934790 0.007752 4 516 4885 - - Admin
./. - c.107-9004A>C r.(=) p.(=) g.15540148T>G - COLQ_000073 rs58156300 0.083 43 516 5267 - - Admin
./. - c.107-8889C>T r.(=) p.(=) g.15540033G>A - COLQ_000072 rs370032148 0.001938 1 516 8926 - - Admin
./. - c.107-8849G>A r.(=) p.(=) g.15539993C>T - COLQ_000071 rs759001023 0.001938 1 516 7831 - - Admin
./. - c.107-8835_107-8834insTGTG r.(=) p.(=) g.15539978_15539979insCACA - COLQ_000070 rs758194277 - - - - - - Admin
./. - c.107-8835_107-8834insTGTGTG r.(=) p.(=) g.15539978_15539979insCACACA - COLQ_000069 rs758194277 - - - - - - Admin
./. - c.107-8835_107-8834insTGTGTGTG r.(=) p.(=) g.15539978_15539979insCACACACA - COLQ_000068 rs758194277 - - - - - - Admin
./. - c.107-8834_107-8833del r.(=) p.(=) g.15539977_15539978del - COLQ_000066 rs758194277 - - - - - - Admin
./. - c.107-8834_107-8833dup r.(=) p.(=) g.15539977_15539978dup - COLQ_000067 rs758194277 - - - - - - Admin
./. - c.107-6848T>C r.(=) p.(=) g.15537992A>G - COLQ_000065 rs9847828 0.3 155 516 2340 - - Admin
./. - c.107-6847A>G r.(=) p.(=) g.15537991T>C - COLQ_000064 rs61558503 0.141 73 516 2380 - - Admin
./. - c.107-6812G>A r.(=) p.(=) g.15537956C>T - COLQ_000063 rs528869483 0.001938 1 516 3761 - - Admin
./. - c.107-6580A>T r.(=) p.(=) g.15537724T>A - COLQ_000062 rs111329177 0.007752 4 516 3256 - - Admin
./. - c.219+59G>A r.(=) p.(=) g.15530973C>T - COLQ_000061 rs116453305 0.003876 2 516 6934 - - Admin
./. - c.219+118C>T r.(=) p.(=) g.15530914G>A - COLQ_000060 rs139040714 0.001938 1 516 3359 - - Admin
./. - c.291G>A r.(=) p.(=) g.15529743C>T - COLQ_000059 rs115201284 0.003876 2 516 6974 - - Admin
./. - c.321+27C>T r.(=) p.(=) g.15529686G>A - COLQ_000058 rs73146167 0.007752 4 516 6972 - - Admin
./. - c.321+170A>G r.(=) p.(=) g.15529543T>C - COLQ_000057 rs1983085 0.516 266 516 5119 - - Admin
./. - c.321+208A>G r.(=) p.(=) g.15529505T>C - COLQ_000056 rs144961978 0.012 6 516 4080 - - Admin
./. - c.366+7A>G r.(=) p.(=) g.15520838T>C - COLQ_000055 rs750387 0.056 29 516 7469 - - Admin
./. - c.366+25C>T r.(=) p.(=) g.15520820G>A - COLQ_000054 rs147114462 0.001938 1 516 7438 - - Admin
./. - c.367-167C>A r.(=) p.(=) g.15520677G>T - COLQ_000053 rs2255897 0.424 219 516 4099 - - Admin
./. - c.367-140C>G r.(=) p.(=) g.15520650G>C - COLQ_000052 rs17484530 0.012 6 516 4129 - - Admin
./. - c.367-129A>C r.(=) p.(=) g.15520639T>G - COLQ_000051 rs2290538 0.269 139 516 4465 - - Admin
./. - c.367-50G>A r.(=) p.(=) g.15520560C>T - COLQ_000050 rs56085664 0.033 17 516 7698 - - Admin
./. - c.391A>G r.(?) p.(Lys131Glu) g.15520486T>C - COLQ_000049 rs142980906 0.003876 2 516 8945 - - Admin
./. - c.393+37G>A r.(=) p.(=) g.15520447C>T - COLQ_000048 rs200865113 0.003876 2 516 8896 - - Admin
./. - c.393+152A>G r.(=) p.(=) g.15520332T>C - COLQ_000047 rs141812091 0.003876 2 516 7013 - - Admin
./. - c.394-185A>G r.(=) p.(=) g.15518889T>C - COLQ_000046 rs13074638 0.457 233 510 2244 - - Admin
./. - c.394-137C>T r.(=) p.(=) g.15518841G>A - COLQ_000045 rs13095087 0.533 275 516 3944 - - Admin
./. - c.394-34C>T r.(=) p.(=) g.15518738G>A - COLQ_000044 rs144158633 0.005814 3 516 7372 - - Admin
./. - c.394-27C>G r.(=) p.(=) g.15518731G>C - COLQ_000043 rs2305612 0.45 232 516 7655 - - Admin
./. - c.465+31G>A r.(=) p.(=) g.15518602C>T - COLQ_000042 rs2305613 0.001938 1 516 3147 - - Admin
./. - c.465+52A>G r.(=) p.(=) g.15518581T>C - COLQ_000041 rs79479403 0.009728 5 514 2487 - - Admin
./. - c.466-214G>A r.(=) p.(=) g.15517208C>T - COLQ_000040 rs75395973 0.047 22 470 966 - - Admin
./. - c.466-165G>A r.(=) p.(=) g.15517159C>T - COLQ_000039 rs76346770 0.005837 3 514 1958 - - Admin
./. - c.466-31C>T r.(=) p.(=) g.15517025G>A - COLQ_000038 rs2305615 0.533 275 516 5310 - - Admin
./. - c.528+22A>G r.(=) p.(=) g.15516910T>C - COLQ_000037 rs3816526 0.412 212 514 2465 - - Admin
./. - c.529-23A>G r.(=) p.(=) g.15516481T>C - COLQ_000036 rs924812 0.43 222 516 6171 - - Admin
./. - c.556-139G>C r.(=) p.(=) g.15515918C>G - COLQ_000035 rs28632773 0.498 244 490 1457 - - Admin
./. - c.556-15A>G r.(=) p.(=) g.15515794T>C - COLQ_000034 rs57376327 0.021 11 516 5216 - - Admin
./. - c.561C>T r.(=) p.(=) g.15515774G>A - COLQ_000033 rs149370622 0.001938 1 516 5437 - - Admin
./. - c.600+22T>C r.(=) p.(=) g.15515713A>G - COLQ_000032 rs113512775 0.003876 2 516 4849 - - Admin
./. - c.600+40G>A r.(=) p.(=) g.15515695C>T - COLQ_000031 rs2305616 0.527 272 516 4910 - - Admin
./. - c.600+52G>A r.(=) p.(=) g.15515683C>T - COLQ_000030 rs147070802 0.001938 1 516 4986 - - Admin
./. - c.637-153C>A r.(=) p.(=) g.15512276G>T - COLQ_000029 rs2305618 0.085 44 516 6488 - - Admin
./. - c.637-119G>A r.(=) p.(=) g.15512242C>T - COLQ_000028 rs905647 0.095 49 516 8712 - - Admin
./. - c.717+28C>T r.(=) p.(=) g.15512015G>A - COLQ_000027 rs140934148 0.001938 1 516 3608 - - Admin
./. - c.718-1609G>A r.(=) p.(=) g.15509553C>T - COLQ_000026 rs955408709 0.001938 1 516 4364 1 0 Admin
./. - c.718-1575C>G r.(=) p.(=) g.15509519G>C - COLQ_000025 rs138467334 0.001938 1 516 5778 - - Admin
./. - c.718-1383G>C r.(=) p.(=) g.15509327C>G - COLQ_000024 rs878945 0.558 288 516 9072 - - Admin
./. - c.718-1368C>T r.(=) p.(=) g.15509312G>A - COLQ_000023 rs553941847 0.001938 1 516 7953 - - Admin
./. - c.718-1310G>A r.(=) p.(=) g.15509254C>T - COLQ_000022 rs144623840 0.001938 1 516 5064 - - Admin
./. - c.718-1268A>G r.(=) p.(=) g.15509212T>C - COLQ_000021 rs878946 0.538 272 506 3177 - - Admin
./. - c.814+87C>T r.(=) p.(=) g.15507761G>A - COLQ_000020 rs3732722 0.51 263 516 3342 - - Admin
./. - c.815-188G>A r.(=) p.(=) g.15500020C>T - COLQ_000019 rs534822916 0.003968 2 504 1419 - - Admin
./. - c.815-71G>A r.(=) p.(=) g.15499903C>T - COLQ_000018 rs912264700 0.001938 1 516 6302 1 0 Admin
./. - c.934A>G r.(?) p.(Ser312Gly) g.15499713T>C - COLQ_000017 rs6782980 0.045 23 516 4579 - - Admin
./. - c.955-186C>T r.(=) p.(=) g.15498272G>A - COLQ_000016 rs12494919 0.494 250 506 2118 - - Admin
./. - c.955-175A>G r.(=) p.(=) g.15498261T>C - COLQ_000015 rs11128745 0.537 274 510 2359 - - Admin
./. - c.955-140G>A r.(=) p.(=) g.15498226C>T - COLQ_000014 - 0.001938 1 516 3230 1 0 Admin
./. - c.955-77_955-76del r.(=) p.(=) g.15498162_15498163del - COLQ_000013 rs1023169531 0.001938 1 516 7124 1 0 Admin
./. - c.1074+54T>A r.(=) p.(=) g.15497913A>T - COLQ_000012 rs77027767 0.001938 1 516 1936 - - Admin
./. - c.1075-82T>C r.(=) p.(=) g.15497608A>G - COLQ_000011 rs28538922 0.099 51 516 6807 - - Admin
./. - c.1081C>T r.(?) p.(Pro361Ser) g.15497520G>A - COLQ_000010 rs116828761 0.001938 1 516 7909 - - Admin
./. - c.1195+81G>T r.(=) p.(=) g.15497325C>A - COLQ_000009 rs73818509 0.014 7 512 2088 - - Admin
./. - c.1196-85C>T r.(=) p.(=) g.15495523G>A - COLQ_000008 rs142726065 0.005976 3 502 1411 - - Admin
./. - c.1196-45C>T r.(=) p.(=) g.15495483G>A - COLQ_000007 rs75838637 0.005814 3 516 2633 - - Admin
./. - c.1248C>T r.(=) p.(=) g.15495386G>A - COLQ_000006 rs55866379 0.039 20 516 5653 - - Admin
./. - c.1281C>T r.(=) p.(=) g.15495353G>A - COLQ_000005 rs185829251 0.001938 1 516 6142 - - Admin
./. - c.1298+35C>A r.(=) p.(=) g.15495301G>T - COLQ_000004 rs1077827 0.118 61 516 5888 - - Admin
./. - c.1299-31G>A r.(=) p.(=) g.15493251C>T - COLQ_000003 rs111284326 0.003876 2 516 3058 - - Admin
./. - c.1338C>A r.(=) p.(=) g.15493181G>T - COLQ_000002 rs73818504 0.017 9 516 6121 - - Admin
./. - c.*5C>T r.(=) p.(=) g.15493146G>A - COLQ_000001 rs753583108 0.005814 3 516 7585 - - Admin
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