Full data view for gene COLEC10

Information The variants shown are described using the NM_006438.3 transcript reference sequence.

70 entries on 1 page. Showing entries 1 - 70.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-33T>C r.(=) p.(=) g.120079488T>C Copied from the Exome Variant Server COLEC10_000001 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-25G>A r.(=) p.(=) g.120079496G>A Copied from the Exome Variant Server COLEC10_000002 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14C>A r.(?) p.(Ala5Glu) g.120079534C>A Copied from the Exome Variant Server COLEC10_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.25C>T r.(?) p.(Arg9*) g.120079545C>T Copied from the Exome Variant Server COLEC10_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.28A>G r.(?) p.(Arg10Gly) g.120079548A>G Copied from the Exome Variant Server COLEC10_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.30A>C r.(?) p.(Arg10Ser) g.120079550A>C Copied from the Exome Variant Server COLEC10_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.49G>C r.(?) p.(Val17Leu) g.120079569G>C Copied from the Exome Variant Server COLEC10_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.79G>A r.(?) p.(Gly27Ser) g.120079599G>A Copied from the Exome Variant Server COLEC10_000008 1/13006 0/8600 1/4406 - - - - - - -
?/? c.97C>T r.(?) p.(Arg33Cys) g.120079617C>T Copied from the Exome Variant Server COLEC10_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.98G>A r.(?) p.(Arg33His) g.120079618G>A Copied from the Exome Variant Server COLEC10_000010 6/13006 5/8600 1/4406 - - - - - - -
?/? c.106G>A r.(?) p.(Ala36Thr) g.120079626G>A Copied from the Exome Variant Server COLEC10_000011 2/13006 2/8600 0/4406 - - - - - - -
?/? c.149-42T>G r.(=) p.(=) g.120101877T>G Copied from the Exome Variant Server COLEC10_000012 2/13006 1/8600 1/4406 - - - - - - -
?/? c.168A>G r.(=) p.(=) g.120101938A>G Copied from the Exome Variant Server COLEC10_000013 546/13006 264/8600 282/4406 - - - - - - -
?/? c.184G>C r.(?) p.(Gly62Arg) g.120101954G>C Copied from the Exome Variant Server COLEC10_000014 1/13006 0/8600 1/4406 - - - - - - -
?/? c.203G>A r.(?) p.(Gly68Glu) g.120101973G>A Copied from the Exome Variant Server COLEC10_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.216G>A r.(=) p.(=) g.120101986G>A Copied from the Exome Variant Server COLEC10_000016 76/13006 0/8600 76/4406 - - - - - - -
?/? c.220+63C>T r.(=) p.(=) g.120102053C>T Copied from the Exome Variant Server COLEC10_000017 2/4566 0/3182 2/1384 - - - - - - -
?/? c.221-31A>G r.(=) p.(=) g.120103357A>G Copied from the Exome Variant Server COLEC10_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.221-26A>T r.(=) p.(=) g.120103362A>T Copied from the Exome Variant Server COLEC10_000019 1/13006 0/8600 1/4406 - - - - - - -
?/? c.221-15A>G r.(=) p.(=) g.120103373A>G Copied from the Exome Variant Server COLEC10_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.234A>C r.(?) p.(Glu78Asp) g.120103401A>C Copied from the Exome Variant Server COLEC10_000021 18/13006 18/8600 0/4406 - - - - - - -
?/? c.292+22T>C r.(=) p.(=) g.120103481T>C Copied from the Exome Variant Server COLEC10_000022 1/13006 1/8600 0/4406 - - - - - - -
?/? c.292+57C>T r.(=) p.(=) g.120103516C>T Copied from the Exome Variant Server COLEC10_000023 2/4566 2/3182 0/1384 - - - - - - -
?/? c.292+59A>T r.(=) p.(=) g.120103518A>T Copied from the Exome Variant Server COLEC10_000024 501/4566 108/3182 393/1384 - - - - - - -
?/? c.292+65C>T r.(=) p.(=) g.120103524C>T Copied from the Exome Variant Server COLEC10_000025 1/4566 1/3182 0/1384 - - - - - - -
?/? c.293-67_293-66insT r.(=) p.(=) g.120114520_120114521insT Copied from the Exome Variant Server COLEC10_000026 17/12140 6/8114 11/4026 - - - - - - -
?/? c.293-48_293-47insTTTTATTTTAA r.(=) p.(=) g.120114539_120114540insTTTTATTTTAA Copied from the Exome Variant Server COLEC10_000027 731/12204 600/8176 131/4028 - - - - - - -
?/? c.293-44T>G r.(=) p.(=) g.120114543T>G Copied from the Exome Variant Server COLEC10_000028 15/12850 0/8566 15/4284 - - - - - - -
?/? c.293-43A>T r.(=) p.(=) g.120114544A>T Copied from the Exome Variant Server COLEC10_000029 33/12860 20/8568 13/4292 - - - - - - -
?/? c.293-38_293-37del r.(=) p.(=) g.120114549_120114550del Copied from the Exome Variant Server COLEC10_000030 89/12368 49/8222 40/4146 - - - - - - -
?/? c.293-33T>A r.(=) p.(=) g.120114554T>A Copied from the Exome Variant Server COLEC10_000031 4/12932 4/8580 0/4352 - - - - - - -
?/? c.293-32A>G r.(=) p.(=) g.120114555A>G Copied from the Exome Variant Server COLEC10_000032 1/12966 0/8588 1/4378 - - - - - - -
?/? c.326C>G r.(?) p.(Pro109Arg) g.120114620C>G Copied from the Exome Variant Server COLEC10_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.345A>C r.(=) p.(=) g.120114639A>C Copied from the Exome Variant Server COLEC10_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.346G>A r.(?) p.(Gly116Ser) g.120114640G>A Copied from the Exome Variant Server COLEC10_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.346+5G>A r.spl? p.? g.120114645G>A Copied from the Exome Variant Server COLEC10_000036 383/13006 1/8600 382/4406 - - - - - - -
?/? c.346+7T>C r.(=) p.(=) g.120114647T>C Copied from the Exome Variant Server COLEC10_000037 1/13006 1/8600 0/4406 - - - - - - -
?/? c.346+20C>T r.(=) p.(=) g.120114660C>T Copied from the Exome Variant Server COLEC10_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.346+25T>C r.(=) p.(=) g.120114665T>C Copied from the Exome Variant Server COLEC10_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.346+51T>C r.(=) p.(=) g.120114691T>C Copied from the Exome Variant Server COLEC10_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.347-40G>A r.(=) p.(=) g.120115999G>A Copied from the Exome Variant Server COLEC10_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.347-31A>G r.(=) p.(=) g.120116008A>G Copied from the Exome Variant Server COLEC10_000042 131/13006 1/8600 130/4406 - - - - - - -
?/? c.350C>T r.(?) p.(Thr117Ile) g.120116042C>T Copied from the Exome Variant Server COLEC10_000043 4/13006 0/8600 4/4406 - - - - - - -
?/? c.373C>T r.(?) p.(Arg125Trp) g.120116065C>T Copied from the Exome Variant Server COLEC10_000044 8/13006 7/8600 1/4406 - - - - - - -
?/? c.379T>C r.(?) p.(Phe127Leu) g.120116071T>C Copied from the Exome Variant Server COLEC10_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.390A>G r.(=) p.(=) g.120116082A>G Copied from the Exome Variant Server COLEC10_000046 501/13006 2/8600 499/4406 - - - - - - -
?/? c.409C>T r.(?) p.(Arg137Trp) g.120116101C>T Copied from the Exome Variant Server COLEC10_000047 4/13006 0/8600 4/4406 - - - - - - -
?/? c.410G>A r.(?) p.(Arg137Gln) g.120116102G>A Copied from the Exome Variant Server COLEC10_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442+41T>A r.(=) p.(=) g.120116175T>A Copied from the Exome Variant Server COLEC10_000051 136/13006 16/8600 120/4406 - - - - - - -
?/? c.442+45C>T r.(=) p.(=) g.120116179C>T Copied from the Exome Variant Server COLEC10_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442+51C>T r.(=) p.(=) g.120116185C>T Copied from the Exome Variant Server COLEC10_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.443-45A>G r.(=) p.(=) g.120117994A>G Copied from the Exome Variant Server COLEC10_000050 1/12856 1/8492 0/4364 - - - - - - -
?/? c.443-21C>T r.(=) p.(=) g.120118018C>T Copied from the Exome Variant Server COLEC10_000052 1/12994 1/8592 0/4402 - - - - - - -
?/? c.443-18C>A r.(=) p.(=) g.120118021C>A Copied from the Exome Variant Server COLEC10_000054 1517/12994 272/8592 1245/4402 - - - - - - -
?/? c.511G>C r.(?) p.(Glu171Gln) g.120118107G>C Copied from the Exome Variant Server COLEC10_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.535C>T r.(?) p.(Arg179Trp) g.120118131C>T Copied from the Exome Variant Server COLEC10_000056 15/13006 1/8600 14/4406 - - - - - - -
?/? c.536G>A r.(?) p.(Arg179Gln) g.120118132G>A Copied from the Exome Variant Server COLEC10_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.572C>T r.(?) p.(Ala191Val) g.120118168C>T Copied from the Exome Variant Server COLEC10_000058 3/13006 3/8600 0/4406 - - - - - - -
?/? c.657G>A r.(=) p.(=) g.120118253G>A Copied from the Exome Variant Server COLEC10_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.672C>A r.(?) p.(Asp224Glu) g.120118268C>A Copied from the Exome Variant Server COLEC10_000060 1/13006 1/8600 0/4406 - - - - - - -
?/? c.708G>A r.(=) p.(=) g.120118304G>A Copied from the Exome Variant Server COLEC10_000061 2/13006 2/8600 0/4406 - - - - - - -
?/? c.714A>C r.(?) p.(Glu238Asp) g.120118310A>C Copied from the Exome Variant Server COLEC10_000062 2/13006 2/8600 0/4406 - - - - - - -
?/? c.715C>T r.(?) p.(Pro239Ser) g.120118311C>T Copied from the Exome Variant Server COLEC10_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.778A>G r.(?) p.(Thr260Ala) g.120118374A>G Copied from the Exome Variant Server COLEC10_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.780A>G r.(=) p.(=) g.120118376A>G Copied from the Exome Variant Server COLEC10_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.814T>A r.(?) p.(Phe272Ile) g.120118410T>A Copied from the Exome Variant Server COLEC10_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.819C>G r.(?) p.(Ile273Met) g.120118415C>G Copied from the Exome Variant Server COLEC10_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.*15C>T r.(=) p.(=) g.120118445C>T Copied from the Exome Variant Server COLEC10_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.*37C>A r.(=) p.(=) g.120118467C>A Copied from the Exome Variant Server COLEC10_000069 1/12996 1/8594 0/4402 - - - - - - -
?/? c.*42A>G r.(=) p.(=) g.120118472A>G Copied from the Exome Variant Server COLEC10_000070 4/12990 4/8592 0/4398 - - - - - - -
Legend