Full data view for gene CHRDL1

Information The variants shown are described using the NM_145234.3 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.-34-17T>C r.(=) p.(=) g.110035460A>G Copied from the Exome Variant Server CHRDL1_000065 1/10558 1/6725 0/3833 - - - - - - -
?/? c.-34-6C>T r.(=) p.(=) g.110035449G>A Copied from the Exome Variant Server CHRDL1_000064 1/10562 1/6728 0/3834 - - - - - - -
?/? c.19A>G r.(?) p.(Met7Val) g.110035391T>C Copied from the Exome Variant Server CHRDL1_000063 3/10563 2/6728 1/3835 - - - - - - -
?/? c.45G>A r.(=) p.(=) g.110035365C>T Copied from the Exome Variant Server CHRDL1_000062 1/10563 0/6728 1/3835 - - - - - - -
?/? c.94+43del r.(=) p.(=) g.110035273del Copied from the Exome Variant Server CHRDL1_000061 25/10198 14/6479 11/3719 - - - - - - -
?/? c.174G>A r.(=) p.(=) g.110005956C>T Copied from the Exome Variant Server CHRDL1_000060 7/10563 7/6728 0/3835 - - - - - - -
?/? c.186C>T r.(=) p.(=) g.110005944G>A Copied from the Exome Variant Server CHRDL1_000059 17/10563 0/6728 17/3835 - - - - - - -
?/? c.187G>A r.(?) p.(Val63Met) g.110005943C>T Copied from the Exome Variant Server CHRDL1_000058 4/10563 0/6728 4/3835 - - - - - - -
?/? c.208-48C>T r.(=) p.(=) g.110003030G>A Copied from the Exome Variant Server CHRDL1_000057 1/10563 0/6728 1/3835 - - - - - - -
?/? c.228C>T r.(=) p.(=) g.110002962G>A Copied from the Exome Variant Server CHRDL1_000056 1/10563 1/6728 0/3835 - - - - - - -
?/? c.230G>A r.(?) p.(Arg77Gln) g.110002960C>T Copied from the Exome Variant Server CHRDL1_000055 1/10563 1/6728 0/3835 - - - - - - -
?/? c.301+41C>A r.(=) p.(=) g.110002848G>T Copied from the Exome Variant Server CHRDL1_000054 2/10563 2/6728 0/3835 - - - - - - -
?/? c.302-40C>T r.(=) p.(=) g.109964795G>A Copied from the Exome Variant Server CHRDL1_000053 1/10563 0/6728 1/3835 - - - - - - -
?/? c.312C>A r.(=) p.(=) g.109964745G>T Copied from the Exome Variant Server CHRDL1_000052 2/10563 2/6728 0/3835 - - - - - - -
?/? c.384C>T r.(=) p.(=) g.109964673G>A Copied from the Exome Variant Server CHRDL1_000051 2/10563 0/6728 2/3835 - - - - - - -
?/? c.396G>C r.(=) p.(=) g.109964661C>G Copied from the Exome Variant Server CHRDL1_000050 1/10563 0/6728 1/3835 - - - - - - -
?/? c.426C>T r.(=) p.(=) g.109964631G>A Copied from the Exome Variant Server CHRDL1_000049 7/10563 0/6728 7/3835 - - - - - - -
?/? c.444+11A>G r.(=) p.(=) g.109964602T>C Copied from the Exome Variant Server CHRDL1_000048 4/10563 0/6728 4/3835 - - - - - - -
?/? c.445-40C>G r.(=) p.(=) g.109963196G>C Copied from the Exome Variant Server CHRDL1_000047 2/10561 2/6726 0/3835 - - - - - - -
?/? c.479C>A r.(?) p.(Pro160His) g.109963122G>T Copied from the Exome Variant Server CHRDL1_000046 1/10563 1/6728 0/3835 - - - - - - -
?/? c.527G>A r.(?) p.(Arg176Gln) g.109963074C>T Copied from the Exome Variant Server CHRDL1_000045 1/10563 1/6728 0/3835 - - - - - - -
?/? c.538+9G>A r.(=) p.(=) g.109963054C>T Copied from the Exome Variant Server CHRDL1_000044 23/10563 0/6728 23/3835 - - - - - - -
?/? c.538+17C>A r.(=) p.(=) g.109963046G>T Copied from the Exome Variant Server CHRDL1_000043 1/10563 0/6728 1/3835 - - - - - - -
?/? c.538+40C>A r.(=) p.(=) g.109963023G>T Copied from the Exome Variant Server CHRDL1_000042 1/10563 0/6728 1/3835 - - - - - - -
?/? c.539-41A>G r.(=) p.(=) g.109943990T>C Copied from the Exome Variant Server CHRDL1_000041 107/10563 1/6728 106/3835 - - - - - - -
?/? c.584G>A r.(?) p.(Arg195Gln) g.109943904C>T Copied from the Exome Variant Server CHRDL1_000040 3/10563 3/6728 0/3835 - - - - - - -
?/? c.588A>G r.(=) p.(=) g.109943900T>C Copied from the Exome Variant Server CHRDL1_000039 10/10563 0/6728 10/3835 - - - - - - -
?/? c.606+50G>C r.(=) p.(=) g.109943832C>G Copied from the Exome Variant Server CHRDL1_000038 4/10563 4/6728 0/3835 - - - - - - -
?/? c.607-41T>G r.(=) p.(=) g.109937600A>C Copied from the Exome Variant Server CHRDL1_000037 1/10563 1/6728 0/3835 - - - - - - -
?/? c.607-40T>A r.(=) p.(=) g.109937599A>T Copied from the Exome Variant Server CHRDL1_000036 1/10563 1/6728 0/3835 - - - - - - -
?/? c.607-28G>A r.(=) p.(=) g.109937587C>T Copied from the Exome Variant Server CHRDL1_000035 2/10563 2/6728 0/3835 - - - - - - -
?/? c.607-13del r.(=) p.(=) g.109937572del Copied from the Exome Variant Server CHRDL1_000034 1/10205 0/6484 1/3721 - - - - - - -
?/? c.623G>A r.(?) p.(Arg208His) g.109937543C>T Copied from the Exome Variant Server CHRDL1_000033 122/10563 2/6728 120/3835 - - - - - - -
?/? c.626C>G r.(?) p.(Ser209Cys) g.109937540G>C Copied from the Exome Variant Server CHRDL1_000032 5/10563 5/6728 0/3835 - - - - - - -
?/? c.669C>A r.(=) p.(=) g.109937497G>T Copied from the Exome Variant Server CHRDL1_000031 1/10563 0/6728 1/3835 - - - - - - -
?/? c.671G>A r.(?) p.(Arg224His) g.109937495C>T Copied from the Exome Variant Server CHRDL1_000030 6/10563 5/6728 1/3835 - - - - - - -
?/? c.683C>T r.(?) p.(Ala228Val) g.109937483G>A Copied from the Exome Variant Server CHRDL1_000029 1/10563 0/6728 1/3835 - - - - - - -
?/? c.695G>A r.(?) p.(Arg232Gln) g.109937471C>T Copied from the Exome Variant Server CHRDL1_000028 2/10563 0/6728 2/3835 - - - - - - -
?/? c.775+20T>A r.(=) p.(=) g.109937371A>T Copied from the Exome Variant Server CHRDL1_000027 14/10563 0/6728 14/3835 - - - - - - -
?/? c.775+29C>T r.(=) p.(=) g.109937362G>A Copied from the Exome Variant Server CHRDL1_000026 5/10563 5/6728 0/3835 - - - - - - -
?/? c.775+34A>G r.(=) p.(=) g.109937357T>C Copied from the Exome Variant Server CHRDL1_000025 418/10563 1/6728 417/3835 - - - - - - -
?/? c.775+45G>A r.(=) p.(=) g.109937346C>T Copied from the Exome Variant Server CHRDL1_000024 2/10563 2/6728 0/3835 - - - - - - -
?/? c.776-9C>T r.(=) p.(=) g.109932040G>A Copied from the Exome Variant Server CHRDL1_000023 5/10563 0/6728 5/3835 - - - - - - -
?/? c.832C>A r.(=) p.(=) g.109931975G>T Copied from the Exome Variant Server CHRDL1_000022 1/10563 1/6728 0/3835 - - - - - - -
?/? c.906C>T r.(=) p.(=) g.109931901G>A Copied from the Exome Variant Server CHRDL1_000021 4/10563 3/6728 1/3835 - - - - - - -
?/? c.945C>T r.(=) p.(=) g.109931862G>A Copied from the Exome Variant Server CHRDL1_000020 2/10563 2/6728 0/3835 - - - - - - -
?/? c.946G>A r.(?) p.(Gly316Arg) g.109931861C>T Copied from the Exome Variant Server CHRDL1_000019 1/10563 1/6728 0/3835 - - - - - - -
?/? c.951A>G r.(=) p.(=) g.109931856T>C Copied from the Exome Variant Server CHRDL1_000018 5678/10563 2670/6728 3008/3835 - - - - - - -
?/? c.985+5G>A r.spl? p.? g.109931817C>T Copied from the Exome Variant Server CHRDL1_000017 1/10563 1/6728 0/3835 - - - - - - -
?/? c.985+23T>C r.(=) p.(=) g.109931799A>G Copied from the Exome Variant Server CHRDL1_000016 5623/10563 2637/6728 2986/3835 - - - - - - -
?/? c.986-22A>G r.(=) p.(=) g.109924896T>C Copied from the Exome Variant Server CHRDL1_000015 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1145G>A r.(?) p.(Arg382Gln) g.109924715C>T Copied from the Exome Variant Server CHRDL1_000014 41/10563 0/6728 41/3835 - - - - - - -
?/? c.1150+3G>A r.spl? p.? g.109924707C>T Copied from the Exome Variant Server CHRDL1_000013 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1150+37G>A r.(=) p.(=) g.109924673C>T Copied from the Exome Variant Server CHRDL1_000012 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1151-41T>C r.(=) p.(=) g.109922694A>G Copied from the Exome Variant Server CHRDL1_000011 11/10563 0/6728 11/3835 - - - - - - -
?/? c.1151-21C>A r.(=) p.(=) g.109922674G>T Copied from the Exome Variant Server CHRDL1_000010 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1188G>A r.(=) p.(=) g.109922616C>T Copied from the Exome Variant Server CHRDL1_000009 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1240+9T>C r.(=) p.(=) g.109922555A>G Copied from the Exome Variant Server CHRDL1_000008 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1240+31A>G r.(=) p.(=) g.109922533T>C Copied from the Exome Variant Server CHRDL1_000007 12/10563 12/6728 0/3835 - - - - - - -
?/? c.1241-32T>C r.(=) p.(=) g.109919621A>G Copied from the Exome Variant Server CHRDL1_000006 1/10563 0/6728 1/3835 - - - - - - -
?/? c.1241-18C>T r.(=) p.(=) g.109919607G>A Copied from the Exome Variant Server CHRDL1_000005 95/10563 0/6728 95/3835 - - - - - - -
?/? c.1241-17G>A r.(=) p.(=) g.109919606C>T Copied from the Exome Variant Server CHRDL1_000004 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1241G>A r.(?) p.(Ser414Asn) g.109919589C>T Copied from the Exome Variant Server CHRDL1_000003 2/10563 0/6728 2/3835 - - - - - - -
?/? c.1266A>C r.(=) p.(=) g.109919564T>G Copied from the Exome Variant Server CHRDL1_000002 1/10563 1/6728 0/3835 - - - - - - -
?/? c.1298G>A r.(?) p.(Arg433His) g.109919532C>T Copied from the Exome Variant Server CHRDL1_000001 2/10563 0/6728 2/3835 - - - - - - -
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