Full data view for gene DISC1

Information The variants shown are described using the NM_018662.2 transcript reference sequence.

192 entries on 2 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.68-42A>G r.(=) p.(=) g.231829530A>G Copied from the Exome Variant Server DISC1_000001 1/13002 1/8598 0/4404 - - - - - - -
?/? c.72C>A r.(?) p.(Ser24Arg) g.231829576C>A Copied from the Exome Variant Server DISC1_000002 1/13006 1/8600 0/4406 - - - - - - -
?/? c.74G>A r.(?) p.(Arg25Gln) g.231829578G>A Copied from the Exome Variant Server DISC1_000003 6/13006 6/8600 0/4406 - - - - - - -
?/? c.91G>A r.(?) p.(Ala31Thr) g.231829595G>A Copied from the Exome Variant Server DISC1_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.96G>A r.(=) p.(=) g.231829600G>A Copied from the Exome Variant Server DISC1_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103C>T r.(?) p.(Arg35Trp) g.231829607C>T Copied from the Exome Variant Server DISC1_000006 1/13006 1/8600 0/4406 - - - - - - -
?/? c.112C>T r.(?) p.(Arg38Trp) g.231829616C>T Copied from the Exome Variant Server DISC1_000007 5/13006 0/8600 5/4406 - - - - - - -
?/? c.136A>G r.(?) p.(Met46Val) g.231829640A>G Copied from the Exome Variant Server DISC1_000008 1/13006 1/8600 0/4406 - - - - - - -
?/? c.146C>T r.(?) p.(Ser49Leu) g.231829650C>T Copied from the Exome Variant Server DISC1_000009 1/13006 0/8600 1/4406 - - - - - - -
?/? c.154C>T r.(?) p.(Pro52Ser) g.231829658C>T Copied from the Exome Variant Server DISC1_000010 1/13006 0/8600 1/4406 - - - - - - -
?/? c.163G>A r.(?) p.(Gly55Arg) g.231829667G>A Copied from the Exome Variant Server DISC1_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.196C>T r.(?) p.(Arg66Trp) g.231829700C>T Copied from the Exome Variant Server DISC1_000012 39/13006 0/8600 39/4406 - - - - - - -
?/? c.211G>T r.(?) p.(Val71Leu) g.231829715G>T Copied from the Exome Variant Server DISC1_000013 56/13006 1/8600 55/4406 - - - - - - -
?/? c.236C>T r.(?) p.(Ser79Leu) g.231829740C>T Copied from the Exome Variant Server DISC1_000014 4/13006 0/8600 4/4406 - - - - - - -
?/? c.248C>T r.(?) p.(Ala83Val) g.231829752C>T Copied from the Exome Variant Server DISC1_000015 9/13006 9/8600 0/4406 - - - - - - -
?/? c.265_269del r.(?) p.(Asp89Glufs*40) g.231829769_231829773del Copied from the Exome Variant Server DISC1_000016 3/12520 1/8254 2/4266 - - - - - - -
?/? c.269C>T r.(?) p.(Ser90Leu) g.231829773C>T Copied from the Exome Variant Server DISC1_000017 1/13006 1/8600 0/4406 - - - - - - -
?/? c.290G>C r.(?) p.(Ser97Thr) g.231829794G>C Copied from the Exome Variant Server DISC1_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.291C>T r.(=) p.(=) g.231829795C>T Copied from the Exome Variant Server DISC1_000019 1/13006 1/8600 0/4406 - - - - - - -
?/? c.316C>A r.(?) p.(Pro106Thr) g.231829820C>A Copied from the Exome Variant Server DISC1_000020 11/13006 0/8600 11/4406 - - - - - - -
?/? c.366C>A r.(=) p.(=) g.231829870C>A Copied from the Exome Variant Server DISC1_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.389A>G r.(?) p.(Asp130Gly) g.231829893A>G Copied from the Exome Variant Server DISC1_000022 2/13006 2/8600 0/4406 - - - - - - -
?/? c.433C>T r.(?) p.(Gln145*) g.231829937C>T Copied from the Exome Variant Server DISC1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.466C>A r.(?) p.(Leu156Met) g.231829970C>A Copied from the Exome Variant Server DISC1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.479G>T r.(?) p.(Trp160Leu) g.231829983G>T Copied from the Exome Variant Server DISC1_000025 11/13006 11/8600 0/4406 - - - - - - -
?/? c.482A>G r.(?) p.(Glu161Gly) g.231829986A>G Copied from the Exome Variant Server DISC1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.555C>T r.(=) p.(=) g.231830059C>T Copied from the Exome Variant Server DISC1_000028 33/13006 0/8600 33/4406 - - - - - - -
?/? c.589C>G r.(?) p.(Pro197Ala) g.231830093C>G Copied from the Exome Variant Server DISC1_000030 3/13006 0/8600 3/4406 - - - - - - -
?/? c.595C>A r.(?) p.(Pro199Thr) g.231830099C>A Copied from the Exome Variant Server DISC1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.627C>G r.(?) p.(Ser209Arg) g.231830131C>G Copied from the Exome Variant Server DISC1_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.647C>T r.(?) p.(Ser216Leu) g.231830151C>T Copied from the Exome Variant Server DISC1_000035 3/13006 0/8600 3/4406 - - - - - - -
?/? c.668G>A r.(?) p.(Arg223His) g.231830172G>A Copied from the Exome Variant Server DISC1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.682G>A r.(?) p.(Gly228Ser) g.231830186G>A Copied from the Exome Variant Server DISC1_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.698G>A r.(?) p.(Arg233Lys) g.231830202G>A Copied from the Exome Variant Server DISC1_000041 1/13006 1/8600 0/4406 - - - - - - -
?/? c.711C>A r.(=) p.(=) g.231830215C>A Copied from the Exome Variant Server DISC1_000044 1/13006 1/8600 0/4406 - - - - - - -
?/? c.759C>T r.(=) p.(=) g.231830263C>T Copied from the Exome Variant Server DISC1_000046 2/13006 0/8600 2/4406 - - - - - - -
?/? c.766C>G r.(?) p.(His256Asp) g.231830270C>G Copied from the Exome Variant Server DISC1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.776C>T r.(?) p.(Pro259Leu) g.231830280C>T Copied from the Exome Variant Server DISC1_000050 1/13006 1/8600 0/4406 - - - - - - -
?/? c.777G>A r.(=) p.(=) g.231830281G>A Copied from the Exome Variant Server DISC1_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.779G>A r.(?) p.(Arg260Gln) g.231830283G>A Copied from the Exome Variant Server DISC1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.790C>T r.(?) p.(Arg264Trp) g.231830294C>T Copied from the Exome Variant Server DISC1_000057 2/13006 2/8600 0/4406 - - - - - - -
?/? c.791G>A r.(?) p.(Arg264Gln) g.231830295G>A Copied from the Exome Variant Server DISC1_000060 3382/13006 2734/8600 648/4406 - - - - - - -
?/? c.815G>A r.(?) p.(Arg272Gln) g.231830319G>A Copied from the Exome Variant Server DISC1_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.840C>T r.(=) p.(=) g.231830344C>T Copied from the Exome Variant Server DISC1_000066 2/13006 2/8600 0/4406 - - - - - - -
?/? c.860C>T r.(?) p.(Pro287Leu) g.231830364C>T Copied from the Exome Variant Server DISC1_000069 13/13006 11/8600 2/4406 - - - - - - -
?/? c.988C>T r.(?) p.(Leu330Phe) g.231830492C>T Copied from the Exome Variant Server DISC1_000073 122/13006 0/8600 122/4406 - - - - - - -
?/? c.1034G>A r.(?) p.(Arg345Gln) g.231830538G>A Copied from the Exome Variant Server DISC1_000075 2/12986 0/8590 2/4396 - - - - - - -
?/? c.1105G>A r.(?) p.(Asp369Asn) g.231837758G>A Copied from the Exome Variant Server DISC1_000078 1/13000 1/8596 0/4404 - - - - - - -
?/? c.1117+5G>A r.spl? p.? g.231837775G>A Copied from the Exome Variant Server DISC1_000081 1/12994 0/8590 1/4404 - - - - - - -
?/? c.1117+37A>G r.(=) p.(=) g.231837807A>G Copied from the Exome Variant Server DISC1_000083 1/12990 1/8586 0/4404 - - - - - - -
?/? c.1117+45A>T r.(=) p.(=) g.231837815A>T Copied from the Exome Variant Server DISC1_000027 2/12988 0/8584 2/4404 - - - - - - -
?/? c.1117+70C>T r.(=) p.(=) g.231837840C>T Copied from the Exome Variant Server DISC1_000029 2/4552 0/3168 2/1384 - - - - - - -
?/? c.1117+18786A>G r.(=) p.(=) g.231856556A>G Copied from the Exome Variant Server DISC1_000031 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1117+18803G>A r.(=) p.(=) g.231856573G>A Copied from the Exome Variant Server DISC1_000033 2/4566 2/3182 0/1384 - - - - - - -
?/? c.1117+18811G>A r.(=) p.(=) g.231856581G>A Copied from the Exome Variant Server DISC1_000036 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1117+18815C>T r.(=) p.(=) g.231856585C>T Copied from the Exome Variant Server DISC1_000038 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1117+18828G>A r.(=) p.(=) g.231856598G>A Copied from the Exome Variant Server DISC1_000040 2/4566 2/3182 0/1384 - - - - - - -
?/? c.1117+18895C>T r.(=) p.(=) g.231856665C>T Copied from the Exome Variant Server DISC1_000042 1/4566 1/3182 0/1384 - - - - - - -
?/? c.1117+20521C>T r.(=) p.(=) g.231858291C>T Copied from the Exome Variant Server DISC1_000043 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1117+20538A>G r.(=) p.(=) g.231858308A>G Copied from the Exome Variant Server DISC1_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1117+20541A>G r.(=) p.(=) g.231858311A>G Copied from the Exome Variant Server DISC1_000047 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1117+20544G>A r.(=) p.(=) g.231858314G>A Copied from the Exome Variant Server DISC1_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1117+20593T>G r.(=) p.(=) g.231858363T>G Copied from the Exome Variant Server DISC1_000052 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1117+20612T>C r.(=) p.(=) g.231858382T>C Copied from the Exome Variant Server DISC1_000054 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1117+20623A>G r.(=) p.(=) g.231858393A>G Copied from the Exome Variant Server DISC1_000058 8/13006 0/8600 8/4406 - - - - - - -
?/? c.1117+20628G>A r.(=) p.(=) g.231858398G>A Copied from the Exome Variant Server DISC1_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1118-27C>T r.(=) p.(=) g.231885645C>T Copied from the Exome Variant Server DISC1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132C>T r.(?) p.(Gln378*) g.231885686C>T Copied from the Exome Variant Server DISC1_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1219C>T r.(?) p.(His407Tyr) g.231885773C>T Copied from the Exome Variant Server DISC1_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1253G>A r.(?) p.(Arg418His) g.231885807G>A Copied from the Exome Variant Server DISC1_000072 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1261A>G r.(?) p.(Thr421Ala) g.231885815A>G Copied from the Exome Variant Server DISC1_000192 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1268+7A>G r.(=) p.(=) g.231885829A>G Copied from the Exome Variant Server DISC1_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1268+12T>C r.(=) p.(=) g.231885834T>C Copied from the Exome Variant Server DISC1_000080 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1268+19C>T r.(=) p.(=) g.231885841C>T Copied from the Exome Variant Server DISC1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1268+27T>C r.(=) p.(=) g.231885849T>C Copied from the Exome Variant Server DISC1_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1269-36T>C r.(=) p.(=) g.231902850T>C Copied from the Exome Variant Server DISC1_000053 152/13006 139/8600 13/4406 - - - - - - -
?/? c.1276G>A r.(?) p.(Gly426Arg) g.231902893G>A Copied from the Exome Variant Server DISC1_000056 2/13006 1/8600 1/4406 - - - - - - -
?/? c.1295C>T r.(?) p.(Pro432Leu) g.231902912C>T Copied from the Exome Variant Server DISC1_000059 37/13006 34/8600 3/4406 - - - - - - -
?/? c.1310C>T r.(?) p.(Pro437Leu) g.231902927C>T Copied from the Exome Variant Server DISC1_000062 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1311G>A r.(=) p.(=) g.231902928G>A Copied from the Exome Variant Server DISC1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1347C>T r.(=) p.(=) g.231902964C>T Copied from the Exome Variant Server DISC1_000067 15/13006 0/8600 15/4406 - - - - - - -
?/? c.1348G>A r.(?) p.(Val450Met) g.231902965G>A Copied from the Exome Variant Server DISC1_000070 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1356C>T r.(=) p.(=) g.231902973C>T Copied from the Exome Variant Server DISC1_000074 32/13006 0/8600 32/4406 - - - - - - -
?/? c.1358C>T r.(?) p.(Thr453Met) g.231902975C>T Copied from the Exome Variant Server DISC1_000076 26/13006 25/8600 1/4406 - - - - - - -
?/? c.1359G>A r.(=) p.(=) g.231902976G>A Copied from the Exome Variant Server DISC1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1364G>A r.(?) p.(Arg455Gln) g.231902981G>A Copied from the Exome Variant Server DISC1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1392G>A r.(=) p.(=) g.231903009G>A Copied from the Exome Variant Server DISC1_000085 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1393C>T r.(=) p.(=) g.231903010C>T Copied from the Exome Variant Server DISC1_000087 463/13006 265/8600 198/4406 - - - - - - -
?/? c.1398+3G>A r.spl? p.? g.231903018G>A Copied from the Exome Variant Server DISC1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1407C>T r.(=) p.(=) g.231906589C>T Copied from the Exome Variant Server DISC1_000089 1885/13006 1005/8600 880/4406 - - - - - - -
?/? c.1408G>A r.(?) p.(Glu470Lys) g.231906590G>A Copied from the Exome Variant Server DISC1_000090 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1434G>T r.(=) p.(=) g.231906616G>T Copied from the Exome Variant Server DISC1_000091 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1441G>C r.(?) p.(Ala481Pro) g.231906623G>C Copied from the Exome Variant Server DISC1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1516C>T r.(?) p.(Pro506Ser) g.231906698C>T Copied from the Exome Variant Server DISC1_000093 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1518A>G r.(=) p.(=) g.231906700A>G Copied from the Exome Variant Server DISC1_000094 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1561A>T r.(?) p.(Lys521*) g.231906743A>T Copied from the Exome Variant Server DISC1_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1616C>T r.(?) p.(Pro539Leu) g.231906798C>T Copied from the Exome Variant Server DISC1_000096 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1619C>A r.(?) p.(Pro540Gln) g.231906801C>A Copied from the Exome Variant Server DISC1_000097 6/13004 6/8600 0/4404 - - - - - - -
?/? c.1620G>A r.(=) p.(=) g.231906802G>A Copied from the Exome Variant Server DISC1_000098 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1634+7C>G r.(=) p.(=) g.231906823C>G Copied from the Exome Variant Server DISC1_000099 9/12994 0/8592 9/4402 - - - - - - -
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