Unique variants in gene COL13A1

Information The variants shown are described using the NM_001130103.1 transcript reference sequence.

110 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.294+2026A>G - - g.69804743A>G dbSNP COL13A1_000001 0.790 Admin
./. 1 - c.294+4492C>T - - g.69807209C>T dbSNP COL13A1_000002 0.044 Admin
./. 1 - c.294+5287C>T r.(=) p.(=) g.69808004C>T dbSNP COL13A1_000003 0.343 Admin
./. 1 - c.294+6104A>G r.(=) p.(=) g.69808821A>G dbSNP COL13A1_000004 0.718 Admin
./. 1 - c.294+9047C>T r.(=) p.(=) g.69811764C>T dbSNP COL13A1_000005 0.852 Admin
./. 1 - c.294+9121C>T r.(=) p.(=) g.69811838C>T dbSNP COL13A1_000006 0.386 Admin
./. 1 - c.295-8861C>G - - g.69813508C>G dbSNP COL13A1_000007 0.231 Admin
./. 1 - c.295-6575A>G - - g.69815794A>G dbSNP COL13A1_000008 0.438 Admin
./. 1 - c.295-4807C>T r.(=) p.(=) g.69817562C>T dbSNP COL13A1_000009 0.383 Admin
./. 1 - c.295-4224C>T - - g.69818145C>T dbSNP COL13A1_000010 0.663 Admin
./. 1 - c.295-2611C>T - - g.69819758C>T dbSNP COL13A1_000011 0.089 Admin
./. 1 - c.295-2149A>G - - g.69820220A>G dbSNP COL13A1_000012 0.210 Admin
./. 1 - c.295-2006A>G - - g.69820363A>G dbSNP COL13A1_000013 0.186 Admin
./. 1 - c.295-995A>G - - g.69821374A>G dbSNP COL13A1_000014 0.477 Admin
./. 1 - c.295-343A>G - - g.69822026A>G dbSNP COL13A1_000015 0.231 Admin
./. 1 - c.364+260C>T r.(=) p.(=) g.69822698C>T dbSNP COL13A1_000016 0.761 Admin
./. 1 - c.364+1562C>T r.(=) p.(=) g.69824000C>T dbSNP COL13A1_000017 0.348 Admin
./. 1 - c.364+3743A>G - - g.69826181A>G dbSNP COL13A1_000018 0.966 Admin
./. 1 - c.364+5692C>T - - g.69828130C>T dbSNP COL13A1_000019 0.545 Admin
./. 1 - c.364+5743A>G - - g.69828181A>G dbSNP COL13A1_000020 0.975 Admin
./. 1 - c.364+6154C>T - - g.69828592C>T dbSNP COL13A1_000021 0.263 Admin
./. 1 - c.364+9979C>G - - g.69832417C>G dbSNP COL13A1_000022 0.157 Admin
./. 1 - c.364+10945C>T - - g.69833383C>T dbSNP COL13A1_000023 0.695 Admin
./. 1 - c.364+11062G>T - - g.69833500G>T dbSNP COL13A1_000024 0.805 Admin
./. 1 - c.364+11863A>G - - g.69834301A>G dbSNP COL13A1_000025 0.087 Admin
./. 1 - c.364+12106A>C - - g.69834544A>C dbSNP COL13A1_000026 0.926 Admin
./. 1 - c.364+12892C>G - - g.69835330C>G dbSNP COL13A1_000027 0.731 Admin
./. 1 - c.364+16040C>T - - g.69838478C>T dbSNP COL13A1_000028 0.708 Admin
./. 1 - c.364+16432G>T r.(=) p.(=) g.69838870G>T dbSNP COL13A1_000029 0.850 Admin
./. 1 - c.364+21197C>T - - g.69843635C>T dbSNP COL13A1_000030 0.919 Admin
./. 1 - c.364+21466A>T r.(=) p.(=) g.69843904A>T dbSNP COL13A1_000031 0.822 Admin
./. 1 - c.365-18242C>G r.(=) p.(=) g.69849556C>G dbSNP COL13A1_000032 0.746 Admin
./. 1 - c.365-13951C>T - - g.69853847C>T dbSNP COL13A1_000033 0.862 Admin
./. 1 - c.365-13545C>G - - g.69854253C>G dbSNP COL13A1_000034 0.193 Admin
./. 1 - c.365-13218A>G - - g.69854580A>G dbSNP COL13A1_000035 0.248 Admin
./. 1 - c.365-12868A>G - - g.69854930A>G dbSNP COL13A1_000036 0.254 Admin
./. 1 - c.365-12734A>G - - g.69855064A>G dbSNP COL13A1_000037 0.945 Admin
./. 1 - c.365-9317C>G - - g.69858481C>G dbSNP COL13A1_000038 0.042 Admin
./. 1 - c.365-9168C>T r.(=) p.(=) g.69858630C>T dbSNP COL13A1_000039 0.805 Admin
./. 1 - c.365-7023A>G - - g.69860775A>G dbSNP COL13A1_000040 0.794 Admin
./. 1 - c.365-6373C>T r.(=) p.(=) g.69861425C>T dbSNP COL13A1_000041 0.686 Admin
./. 1 - c.365-4761C>T - - g.69863037C>T dbSNP COL13A1_000042 0.045 Admin
./. 1 - c.372+392C>T r.(=) p.(=) g.69868197C>T dbSNP COL13A1_000043 0.814 Admin
./. 1 - c.372+1085C>T r.(=) p.(=) g.69868890C>T dbSNP COL13A1_000044 0.750 Admin
./. 1 - c.399+443C>T - - g.69872653C>T dbSNP COL13A1_000045 0.223 Admin
./. 1 - c.399+992C>T - - g.69873202C>T dbSNP COL13A1_000046 0.188 Admin
./. 1 - c.399+1289A>G - - g.69873499A>G dbSNP COL13A1_000047 0.174 Admin
./. 1 - c.400-893C>T r.(=) p.(=) g.69874235C>T dbSNP COL13A1_000048 0.288 Admin
./. 1 - c.400-792C>T r.(=) p.(=) g.69874336C>T dbSNP COL13A1_000049 0.430 Admin
./. 1 - c.400-778C>T - - g.69874350C>T dbSNP COL13A1_000050 0.267 Admin
./. 1 - c.400-246C>T r.(=) p.(=) g.69874882C>T dbSNP COL13A1_000051 0.049 Admin
./. 1 - c.435+1268A>G - - g.69876431A>G dbSNP COL13A1_000052 0.737 Admin
./. 1 - c.436-2274C>T r.(=) p.(=) g.69878229C>T dbSNP COL13A1_000053 0.830 Admin
./. 1 - c.436-1266C>T r.(=) p.(=) g.69879237C>T dbSNP COL13A1_000054 0.917 Admin
./. 1 - c.486+181A>G - - g.69880734A>G dbSNP COL13A1_000055 0.777 Admin
./. 1 - c.486+557A>G r.(=) p.(=) g.69881110A>G dbSNP COL13A1_000056 0.892 Admin
./. 1 - c.486+930C>T - - g.69881483C>T dbSNP COL13A1_000057 0.390 Admin
./. 1 - c.487-2253C>T - - g.69885203C>T dbSNP COL13A1_000058 0.667 Admin
./. 1 - c.487-1574A>T - - g.69885882A>T dbSNP COL13A1_000059 0.241 Admin
./. 1 - c.487-991A>C - - g.69886465A>C dbSNP COL13A1_000060 0.769 Admin
./. 1 - c.487-44A>G - - g.69887412A>G dbSNP COL13A1_000061 0.890 Admin
./. 1 - c.522+50C>T - - g.69887541C>T dbSNP COL13A1_000062 0.265 Admin
./. 1 - c.576+112C>T r.(=) p.(=) g.69889552C>T dbSNP COL13A1_000063 0.208 Admin
./. 1 - c.576+1640A>C - - g.69891080A>C dbSNP COL13A1_000064 0.515 Admin
./. 1 - c.577-1808C>T - - g.69892744C>T dbSNP COL13A1_000065 0.237 Admin
./. 1 - c.630+144C>T r.(=) p.(=) g.69894845C>T dbSNP COL13A1_000066 0.106 Admin
./. 1 - c.698A>G r.(?) p.(Gln233Arg) g.69897515A>G dbSNP COL13A1_000067 0.970 Admin
./. 1 - c.714+315C>T - - g.69897846C>T dbSNP COL13A1_000068 0.818 Admin
./. 1 - c.714+333A>C - - g.69897864A>C dbSNP COL13A1_000069 0.205 Admin
./. 1 - c.714+423A>G - - g.69897954A>G dbSNP COL13A1_000070 0.070 Admin
./. 1 - c.888+171A>C - - g.69903026A>C dbSNP COL13A1_000071 0.669 Admin
./. 1 - c.888+613A>G - - g.69903468A>G dbSNP COL13A1_000072 0.244 Admin
./. 1 - c.888+938A>G - - g.69903793A>G dbSNP COL13A1_000073 0.903 Admin
./. 1 - c.915+338A>G - - g.69905297A>G dbSNP COL13A1_000074 0.116 Admin
./. 1 - c.951+1665A>G - - g.69907487A>G dbSNP COL13A1_000075 0.188 Admin
./. 1 - c.951+4374G>T - - g.69910196G>T dbSNP COL13A1_000076 0.121 Admin
./. 1 - c.951+4705G>T - - g.69910527G>T dbSNP COL13A1_000077 0.036 Admin
./. 1 - c.952-4167C>T r.(=) p.(=) g.69913122C>T dbSNP COL13A1_000078 0.267 Admin
./. 1 - c.952-1761A>C - - g.69915528A>C dbSNP COL13A1_000079 0.828 Admin
./. 1 - c.952-1170C>G r.(=) p.(=) g.69916119C>G dbSNP COL13A1_000080 0.152 Admin
./. 1 - c.952-646A>G - - g.69916643A>G dbSNP COL13A1_000081 0.527 Admin
./. 1 - c.1056+432C>T r.(=) p.(=) g.69919520C>T dbSNP COL13A1_000082 0.578 Admin
./. 1 - c.1198-326C>T - - g.69923476C>T dbSNP COL13A1_000083 0.047 Admin
./. 1 - c.1366-429A>G r.(=) p.(=) g.69926658A>G dbSNP COL13A1_000084 0.093 Admin
./. 1 - c.1650+166C>G - - g.69930718C>G dbSNP COL13A1_000085 0.366 Admin
./. 1 - c.1650+275A>C r.(=) p.(=) g.69930827A>C dbSNP COL13A1_000086 0.028 Admin
./. 1 - c.1650+335A>T - - g.69930887A>T dbSNP COL13A1_000087 0.951 Admin
./. 1 - c.1651-732C>T - - g.69931828C>T dbSNP COL13A1_000088 0.176 Admin
./. 1 - c.1695+1082A>T r.(=) p.(=) g.69933686A>T dbSNP COL13A1_000089 0.888 Admin
./. 1 - c.1765-366A>G - - g.69937269A>G dbSNP COL13A1_000090 0.688 Admin
./. 1 - c.1845+751C>T r.(=) p.(=) g.69938466C>T dbSNP COL13A1_000091 0.360 Admin
./. 1 - c.1845+920A>G r.(=) p.(=) g.69938635A>G dbSNP COL13A1_000092 0.837 Admin
./. 1 - c.1881+731A>G - - g.69941754A>G dbSNP COL13A1_000093 0.282 Admin
./. 1 - c.1935+297A>G - - g.69944475A>G dbSNP COL13A1_000094 0.892 Admin
./. 1 - c.1935+721C>G - - g.69944899C>G dbSNP COL13A1_000095 0.818 Admin
./. 1 - c.2025+2770C>T r.(=) p.(=) g.69950112C>T dbSNP COL13A1_000096 0.218 Admin
./. 1 - c.2026-2377A>G - - g.69950505A>G dbSNP COL13A1_000097 0.578 Admin
./. 1 - c.2026-2253A>G r.(=) p.(=) g.69950629A>G dbSNP COL13A1_000098 0.146 Admin
./. 1 - c.2026-2056A>G r.(=) p.(=) g.69950826A>G dbSNP COL13A1_000099 0.449 Admin
./. 1 - c.2026-1668A>G - - g.69951214A>G dbSNP COL13A1_000100 0.066 Admin
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