Full data view for gene ADAM28

Information The variants shown are described using the NM_014265.4 transcript reference sequence.

215 entries on 3 pages. Showing entries 1 - 100.
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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.-53C>T r.(=) p.(=) g.24151610C>T Copied from the Exome Variant Server ADAM28_000001 6/4566 0/3182 6/1384 - - - - - - -
?/? c.-38C>T r.(=) p.(=) g.24151625C>T Copied from the Exome Variant Server ADAM28_000002 2/13006 1/8600 1/4406 - - - - - - -
?/? c.46+21C>G r.(=) p.(=) g.24151729C>G Copied from the Exome Variant Server ADAM28_000003 8/13006 6/8600 2/4406 - - - - - - -
?/? c.46+36G>A r.(=) p.(=) g.24151744G>A Copied from the Exome Variant Server ADAM28_000004 24/13006 0/8600 24/4406 - - - - - - -
?/? c.47-36T>C r.(=) p.(=) g.24157451T>C Copied from the Exome Variant Server ADAM28_000005 1/13004 1/8598 0/4406 - - - - - - -
?/? c.61G>T r.(?) p.(Glu21*) g.24157501G>T Copied from the Exome Variant Server ADAM28_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.105A>G r.(=) p.(=) g.24157545A>G Copied from the Exome Variant Server ADAM28_000007 1/13006 1/8600 0/4406 - - - - - - -
?/? c.114A>G r.(=) p.(=) g.24157554A>G Copied from the Exome Variant Server ADAM28_000008 2/13006 2/8600 0/4406 - - - - - - -
?/? c.129G>T r.(?) p.(Glu43Asp) g.24157569G>T Copied from the Exome Variant Server ADAM28_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.149A>G r.(?) p.(Gln50Arg) g.24157589A>G Copied from the Exome Variant Server ADAM28_000010 11/13006 11/8600 0/4406 - - - - - - -
?/? c.150+9_150+13del r.(=) p.(=) g.24157599_24157603del Copied from the Exome Variant Server ADAM28_000011 8/12518 8/8254 0/4264 - - - - - - -
?/? c.150+27C>G r.(=) p.(=) g.24157617C>G Copied from the Exome Variant Server ADAM28_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.150+30G>A r.(=) p.(=) g.24157620G>A Copied from the Exome Variant Server ADAM28_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.150+40A>G r.(=) p.(=) g.24157630A>G Copied from the Exome Variant Server ADAM28_000014 1/13006 1/8600 0/4406 - - - - - - -
?/? c.189T>C r.(=) p.(=) g.24167445T>C Copied from the Exome Variant Server ADAM28_000015 1/12976 0/8592 1/4384 - - - - - - -
?/? c.202G>A r.(?) p.(Ala68Thr) g.24167458G>A Copied from the Exome Variant Server ADAM28_000016 11/12990 0/8596 11/4394 - - - - - - -
?/? c.217del r.(?) p.(Asn75Thrfs*53) g.24167473del Copied from the Exome Variant Server ADAM28_000017 15/12500 8/8246 7/4254 - - - - - - -
?/? c.225C>A r.(?) p.(Asn75Lys) g.24167481C>A Copied from the Exome Variant Server ADAM28_000018 1/12996 1/8596 0/4400 - - - - - - -
?/? c.226_227+2del r.spl? p.? g.24167482_24167485del Copied from the Exome Variant Server ADAM28_000019 5/12504 0/8248 5/4256 - - - - - - -
?/? c.227+9C>A r.(=) p.(=) g.24167492C>A Copied from the Exome Variant Server ADAM28_000020 22/13000 0/8596 22/4404 - - - - - - -
?/? c.227+50A>G r.(=) p.(=) g.24167533A>G Copied from the Exome Variant Server ADAM28_000021 3/13006 2/8600 1/4406 - - - - - - -
?/? c.227+59G>A r.(=) p.(=) g.24167542G>A Copied from the Exome Variant Server ADAM28_000022 4/4566 4/3182 0/1384 - - - - - - -
?/? c.228-29C>G r.(=) p.(=) g.24167647C>G Copied from the Exome Variant Server ADAM28_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.245G>A r.(?) p.(Gly82Asp) g.24167693G>A Copied from the Exome Variant Server ADAM28_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.251C>T r.(?) p.(Thr84Met) g.24167699C>T Copied from the Exome Variant Server ADAM28_000027 2/13006 2/8600 0/4406 - - - - - - -
?/? c.252G>A r.(=) p.(=) g.24167700G>A Copied from the Exome Variant Server ADAM28_000024 2/13006 1/8600 1/4406 - - - - - - -
?/? c.300A>T r.(?) p.(Gln100His) g.24167748A>T Copied from the Exome Variant Server ADAM28_000026 1/13006 0/8600 1/4406 - - - - - - -
?/? c.303T>C r.(=) p.(=) g.24167751T>C Copied from the Exome Variant Server ADAM28_000028 43/13006 0/8600 43/4406 - - - - - - -
?/? c.306+5A>T r.spl? p.? g.24167759A>T Copied from the Exome Variant Server ADAM28_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.306+7C>T r.(=) p.(=) g.24167761C>T Copied from the Exome Variant Server ADAM28_000030 3/13006 2/8600 1/4406 - - - - - - -
?/? c.306+12T>C r.(=) p.(=) g.24167766T>C Copied from the Exome Variant Server ADAM28_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.306+33G>A r.(=) p.(=) g.24167787G>A Copied from the Exome Variant Server ADAM28_000032 8/13002 0/8596 8/4406 - - - - - - -
?/? c.306+62del r.(=) p.(=) g.24167816del Copied from the Exome Variant Server ADAM28_000033 1/12514 1/8250 0/4264 - - - - - - -
?/? c.307-51C>T r.(=) p.(=) g.24168823C>T Copied from the Exome Variant Server ADAM28_000034 17/13006 14/8600 3/4406 - - - - - - -
?/? c.307-50G>A r.(=) p.(=) g.24168824G>A Copied from the Exome Variant Server ADAM28_000035 39/13006 35/8600 4/4406 - - - - - - -
?/? c.307G>A r.(?) p.(Asp103Asn) g.24168874G>A Copied from the Exome Variant Server ADAM28_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.313T>A r.(?) p.(Cys105Ser) g.24168880T>A Copied from the Exome Variant Server ADAM28_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.315T>C r.(=) p.(=) g.24168882T>C Copied from the Exome Variant Server ADAM28_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.318T>G r.(?) p.(Tyr106*) g.24168885T>G Copied from the Exome Variant Server ADAM28_000039 2/13006 2/8600 0/4406 - - - - - - -
?/? c.319T>A r.(?) p.(Tyr107Asn) g.24168886T>A Copied from the Exome Variant Server ADAM28_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.338A>G r.(?) p.(Asn113Ser) g.24168905A>G Copied from the Exome Variant Server ADAM28_000041 1/13006 0/8600 1/4406 - - - - - - -
?/? c.354C>T r.(=) p.(=) g.24168921C>T Copied from the Exome Variant Server ADAM28_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.376G>C r.(?) p.(Gly126Arg) g.24168943G>C Copied from the Exome Variant Server ADAM28_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.383+51A>T r.(=) p.(=) g.24169001A>T Copied from the Exome Variant Server ADAM28_000044 2/13006 0/8600 2/4406 - - - - - - -
?/? c.383+54T>C r.(=) p.(=) g.24169004T>C Copied from the Exome Variant Server ADAM28_000045 1/4566 0/3182 1/1384 - - - - - - -
?/? c.439C>A r.(?) p.(His147Asn) g.24170956C>A Copied from the Exome Variant Server ADAM28_000046 20/13006 18/8600 2/4406 - - - - - - -
?/? c.443G>T r.(?) p.(Arg148Leu) g.24170960G>T Copied from the Exome Variant Server ADAM28_000047 158/13006 0/8600 158/4406 - - - - - - -
?/? c.445G>A r.(?) p.(Asp149Asn) g.24170962G>A Copied from the Exome Variant Server ADAM28_000048 2/13006 0/8600 2/4406 - - - - - - -
?/? c.477C>A r.(?) p.(Asn159Lys) g.24170994C>A Copied from the Exome Variant Server ADAM28_000049 7/13006 0/8600 7/4406 - - - - - - -
?/? c.479C>G r.(?) p.(Pro160Arg) g.24170996C>G Copied from the Exome Variant Server ADAM28_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.528G>T r.(?) p.(Trp176Cys) g.24171045G>T Copied from the Exome Variant Server ADAM28_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.534C>T r.(=) p.(=) g.24171051C>T Copied from the Exome Variant Server ADAM28_000052 2069/13006 1315/8600 754/4406 - - - - - - -
?/? c.549C>G r.(?) p.(Asn183Lys) g.24171066C>G Copied from the Exome Variant Server ADAM28_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.576+28G>A r.(=) p.(=) g.24171121G>A Copied from the Exome Variant Server ADAM28_000054 2/13006 0/8600 2/4406 - - - - - - -
?/? c.576+29C>T r.(=) p.(=) g.24171122C>T Copied from the Exome Variant Server ADAM28_000055 4/13006 0/8600 4/4406 - - - - - - -
?/? c.576+31C>G r.(=) p.(=) g.24171124C>G Copied from the Exome Variant Server ADAM28_000056 4/13006 2/8600 2/4406 - - - - - - -
?/? c.577-9A>G r.(=) p.(=) g.24177740A>G Copied from the Exome Variant Server ADAM28_000057 2/12994 2/8590 0/4404 - - - - - - -
?/? c.603A>C r.(?) p.(Glu201Asp) g.24177775A>C Copied from the Exome Variant Server ADAM28_000058 1/12996 1/8590 0/4406 - - - - - - -
?/? c.616A>G r.(?) p.(Ile206Val) g.24177788A>G Copied from the Exome Variant Server ADAM28_000059 4/12988 4/8582 0/4406 - - - - - - -
?/? c.648+15T>C r.(=) p.(=) g.24177835T>C Copied from the Exome Variant Server ADAM28_000060 89/12988 76/8586 13/4402 - - - - - - -
?/? c.649-42A>G r.(=) p.(=) g.24178689A>G Copied from the Exome Variant Server ADAM28_000061 9/12980 0/8578 9/4402 - - - - - - -
?/? c.656G>T r.(?) p.(Arg219Met) g.24178738G>T Copied from the Exome Variant Server ADAM28_000062 557/13000 8/8594 549/4406 - - - - - - -
?/? c.657G>T r.(?) p.(Arg219Ser) g.24178739G>T Copied from the Exome Variant Server ADAM28_000063 6/13000 4/8594 2/4406 - - - - - - -
?/? c.683G>T r.(?) p.(Arg228Ile) g.24178765G>T Copied from the Exome Variant Server ADAM28_000064 1/13004 0/8598 1/4406 - - - - - - -
?/? c.720+58T>A r.(=) p.(=) g.24178860T>A Copied from the Exome Variant Server ADAM28_000065 2/4566 0/3182 2/1384 - - - - - - -
?/? c.720+67del r.(=) p.(=) g.24178869del Copied from the Exome Variant Server ADAM28_000066 1/12512 0/8252 1/4260 - - - - - - -
?/? c.721-48A>G r.(=) p.(=) g.24181299A>G Copied from the Exome Variant Server ADAM28_000067 3/12990 0/8590 3/4400 - - - - - - -
?/? c.721-40del r.(=) p.(=) g.24181307del Copied from the Exome Variant Server ADAM28_000068 1/12508 0/8246 1/4262 - - - - - - -
?/? c.721-31A>C r.(=) p.(=) g.24181316A>C Copied from the Exome Variant Server ADAM28_000069 1/12998 1/8594 0/4404 - - - - - - -
?/? c.721-10C>A r.(=) p.(=) g.24181337C>A Copied from the Exome Variant Server ADAM28_000070 1/13004 0/8598 1/4406 - - - - - - -
?/? c.721-3C>T r.spl? p.? g.24181344C>T Copied from the Exome Variant Server ADAM28_000071 1/13004 1/8598 0/4406 - - - - - - -
?/? c.734T>C r.(?) p.(Leu245Pro) g.24181360T>C Copied from the Exome Variant Server ADAM28_000073 1/13004 1/8598 0/4406 - - - - - - -
?/? c.749C>T r.(?) p.(Ala250Val) g.24181375C>T Copied from the Exome Variant Server ADAM28_000075 1/13004 1/8598 0/4406 - - - - - - -
?/? c.813C>T r.(=) p.(=) g.24181439C>T Copied from the Exome Variant Server ADAM28_000077 11/13004 9/8598 2/4406 - - - - - - -
?/? c.865C>T r.(?) p.(Arg289Cys) g.24181491C>T Copied from the Exome Variant Server ADAM28_000079 1/13002 0/8598 1/4404 - - - - - - -
?/? c.871del r.(?) p.(Asp291Ilefs*5) g.24181497del Copied from the Exome Variant Server ADAM28_000072 1/12516 0/8252 1/4264 - - - - - - -
?/? c.890+1G>A r.spl? p.? g.24181517G>A Copied from the Exome Variant Server ADAM28_000074 1/13000 1/8596 0/4404 - - - - - - -
?/? c.890+4T>G r.spl? p.? g.24181520T>G Copied from the Exome Variant Server ADAM28_000076 1/13000 0/8596 1/4404 - - - - - - -
?/? c.890+18C>G r.(=) p.(=) g.24181534C>G Copied from the Exome Variant Server ADAM28_000078 2/13000 2/8596 0/4404 - - - - - - -
?/? c.890+29C>G r.(=) p.(=) g.24181545C>G Copied from the Exome Variant Server ADAM28_000080 1/13000 1/8596 0/4404 - - - - - - -
?/? c.891-34T>C r.(=) p.(=) g.24184033T>C Copied from the Exome Variant Server ADAM28_000081 56/13006 51/8600 5/4406 - - - - - - -
?/? c.891-22T>G r.(=) p.(=) g.24184045T>G Copied from the Exome Variant Server ADAM28_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.891-11C>T r.(=) p.(=) g.24184056C>T Copied from the Exome Variant Server ADAM28_000083 558/13006 7/8600 551/4406 - - - - - - -
?/? c.911C>T r.(?) p.(Thr304Met) g.24184087C>T Copied from the Exome Variant Server ADAM28_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.912G>T r.(=) p.(=) g.24184088G>T Copied from the Exome Variant Server ADAM28_000085 20/13006 0/8600 20/4406 - - - - - - -
?/? c.952_953insATC r.(?) p.(Tyr318_Ser319insHis) g.24184128_24184129insATC Copied from the Exome Variant Server ADAM28_000086 20/12516 0/8252 20/4264 - - - - - - -
?/? c.954T>C r.(=) p.(=) g.24184130T>C Copied from the Exome Variant Server ADAM28_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.963C>T r.(=) p.(=) g.24184139C>T Copied from the Exome Variant Server ADAM28_000088 9/13006 1/8600 8/4406 - - - - - - -
?/? c.964G>A r.(?) p.(Val322Ile) g.24184140G>A Copied from the Exome Variant Server ADAM28_000089 14/13006 0/8600 14/4406 - - - - - - -
?/? c.972+7A>T r.(=) p.(=) g.24184155A>T Copied from the Exome Variant Server ADAM28_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.972+17A>G r.(=) p.(=) g.24184165A>G Copied from the Exome Variant Server ADAM28_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.973-39C>A r.(=) p.(=) g.24187459C>A Copied from the Exome Variant Server ADAM28_000092 2/13006 2/8600 0/4406 - - - - - - -
?/? c.973-36A>T r.(=) p.(=) g.24187462A>T Copied from the Exome Variant Server ADAM28_000093 4/13006 0/8600 4/4406 - - - - - - -
?/? c.981C>T r.(=) p.(=) g.24187506C>T Copied from the Exome Variant Server ADAM28_000094 4/13006 0/8600 4/4406 - - - - - - -
?/? c.987_989del r.(?) p.(Leu331del) g.24187512_24187514del Copied from the Exome Variant Server ADAM28_000095 18/12518 14/8254 4/4264 - - - - - - -
?/? c.994A>G r.(?) p.(Arg332Gly) g.24187519A>G Copied from the Exome Variant Server ADAM28_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1010T>C r.(?) p.(Met337Thr) g.24187535T>C Copied from the Exome Variant Server ADAM28_000097 4/13006 4/8600 0/4406 - - - - - - -
?/? c.1031A>G r.(?) p.(Asn344Ser) g.24187556A>G Copied from the Exome Variant Server ADAM28_000098 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1046A>C r.(?) p.(His349Pro) g.24187571A>C Copied from the Exome Variant Server ADAM28_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1050C>T r.(=) p.(=) g.24187575C>T Copied from the Exome Variant Server ADAM28_000100 23/13006 22/8600 1/4406 - - - - - - -
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