Unique variants in gene COLQ

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

35 entries on 1 page. Showing entries 1 - 35.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.106+3859T>C - - g.15517661A>G dbSNP COLQ_000020 0.165 Admin
./. 1 - c.106+7758G>A r.(=) p.(=) g.15513762C>T dbSNP COLQ_000019 0.165 Admin
./. 1 - c.106+15718T>C r.(=) p.(=) g.15505802A>G dbSNP COLQ_000017 0.684 Admin
./. 1 - c.107-11628G>A - - g.15501265C>T dbSNP COLQ_000016 0.278 Admin
./. 1 - c.107-9892T>G r.(=) p.(=) g.15499529A>C dbSNP COLQ_000014 0.439 Admin
./. 1 - c.107-9328C>A r.(=) p.(=) g.15498965G>T dbSNP COLQ_000013 0.566 Admin
./. 1 - c.107-7095T>A r.(=) p.(=) g.15496732A>T dbSNP COLQ_000011 0.847 Admin
./. 1 - c.107-1711G>C r.(=) p.(=) g.15491348C>G dbSNP COLQ_000008 0.953 Admin
./. 1 - c.321+171G>A r.(=) p.(=) g.15488035C>T dbSNP COLQ_000006 0.468 Admin
./. 1 - c.321+309C>A - - g.15487897G>T dbSNP COLQ_000004 0.455 Admin
./. 1 - c.321+1138T>G - - g.15487068A>C dbSNP COLQ_000002 0.176 Admin
./. 1 - c.366+8T>C - - g.15479330A>G dbSNP COLQ_000035 0.078 Admin
./. 1 - c.367-166T>G - - g.15479169A>C dbSNP COLQ_000034 0.561 Admin
./. 1 - c.367-128C>A - - g.15479131G>T dbSNP COLQ_000033 0.693 Admin
./. 1 - c.393+466C>A - - g.15478511G>T dbSNP COLQ_000032 0.513 Admin
./. 1 - c.393+551T>C - - g.15478426A>G dbSNP COLQ_000031 0.953 Admin
./. 1 - c.394-557T>C - - g.15477754A>G dbSNP COLQ_000030 0.477 Admin
./. 1 - c.394-136T>C - - g.15477333A>G dbSNP COLQ_000029 0.464 Admin
./. 1 - c.394-26G>C - - g.15477223C>G dbSNP COLQ_000028 0.451 Admin
./. 1 - c.600+41G>A - - g.15474187C>T dbSNP COLQ_000027 0.530 Admin
./. 1 - c.636+1211T>A - - g.15472789A>T dbSNP COLQ_000026 0.485 Admin
./. 1 - c.636+1445T>G r.(=) p.(=) g.15472555A>C dbSNP COLQ_000025 0.068 Admin
./. 1 - c.637-552T>C r.(=) p.(=) g.15471168A>G dbSNP COLQ_000024 0.036 Admin
./. 1 - c.637-152C>A - - g.15470768G>T dbSNP COLQ_000023 0.189 Admin
./. 1 - c.637-118G>A - - g.15470734C>T dbSNP COLQ_000022 0.087 Admin
./. 1 - c.815-2297G>A - - g.15460622C>T dbSNP COLQ_000021 0.445 Admin
./. 1 - c.815-1975G>A r.(=) p.(=) g.15460300C>T dbSNP COLQ_000018 0.388 Admin
./. 1 - c.815-1853T>C - - g.15460178A>G dbSNP COLQ_000015 0.862 Admin
./. 1 - c.815-1100T>C r.(=) p.(=) g.15459425A>G dbSNP COLQ_000012 0.496 Admin
./. 1 - c.815-1063T>C r.(=) p.(=) g.15459388A>G dbSNP COLQ_000010 0.468 Admin
./. 1 - c.815-462G>A - - g.15458787C>T dbSNP COLQ_000009 0.527 Admin
./. 1 - c.1196-401T>C - - g.15454332A>G dbSNP COLQ_000007 0.477 Admin
./. 1 - c.1299-781G>A r.(=) p.(=) g.15452494C>T dbSNP COLQ_000005 0.439 Admin
./. 1 - c.*366T>A - - g.15451278A>T dbSNP COLQ_000003 0.509 Admin
./. 1 - c.*516T>C - - g.15451128A>G dbSNP COLQ_000001 0.873 Admin
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