Full data view for gene IQCC

Information The variants shown are described using the NM_018134.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
Legend  

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.-26G>C r.(=) p.(=) g.32671257G>C Copied from the Exome Variant Server IQCC_000001 10/12928 0/8556 10/4372 - - - - - - -
?/? c.1A>G r.? p.? g.32671283A>G Copied from the Exome Variant Server IQCC_000002 2/12956 0/8580 2/4376 - - - - - - -
?/? c.7C>T r.(?) p.(Pro3Ser) g.32671289C>T Copied from the Exome Variant Server IQCC_000003 2/12964 0/8582 2/4382 - - - - - - -
?/? c.32C>G r.(?) p.(Ser11Cys) g.32671314C>G Copied from the Exome Variant Server IQCC_000005 1/12982 1/8584 0/4398 - - - - - - -
?/? c.36A>T r.(=) p.(=) g.32671318A>T Copied from the Exome Variant Server IQCC_000008 1/12980 1/8582 0/4398 - - - - - - -
?/? c.42+23C>G r.(=) p.(=) g.32671347C>G Copied from the Exome Variant Server IQCC_000010 1/13000 1/8596 0/4404 - - - - - - -
?/? c.43-191G>C r.(=) p.(=) g.32671564G>C Copied from the Exome Variant Server IQCC_000012 77/4530 0/3154 77/1376 - - - - - - -
?/? c.43-28A>T r.(=) p.(=) g.32671727A>T Copied from the Exome Variant Server IQCC_000015 1/13004 0/8600 1/4404 - - - - - - -
?/? c.43-15C>G r.(=) p.(=) g.32671740C>G Copied from the Exome Variant Server IQCC_000017 2/13004 0/8600 2/4404 - - - - - - -
?/? c.89G>T r.(?) p.(Arg30Leu) g.32671801G>T Copied from the Exome Variant Server IQCC_000019 7/13006 0/8600 7/4406 - - - - - - -
?/? c.99T>G r.(?) p.(Tyr33*) g.32671811T>G Copied from the Exome Variant Server IQCC_000021 1/13006 0/8600 1/4406 - - - - - - -
?/? c.113G>A r.(?) p.(Arg38Gln) g.32671825G>A Copied from the Exome Variant Server IQCC_000004 1/13006 1/8600 0/4406 - - - - - - -
?/? c.116A>C r.(?) p.(Glu39Ala) g.32671828A>C Copied from the Exome Variant Server IQCC_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.117G>A r.(=) p.(=) g.32671829G>A Copied from the Exome Variant Server IQCC_000007 1/13006 0/8600 1/4406 - - - - - - -
?/? c.123del r.(?) p.(Gly42Alafs*35) g.32671835del Copied from the Exome Variant Server IQCC_000009 4/12520 2/8254 2/4266 - - - - - - -
?/? c.186+9C>T r.(=) p.(=) g.32671907C>T Copied from the Exome Variant Server IQCC_000011 1/13006 1/8600 0/4406 - - - - - - -
?/? c.186+11C>T r.(=) p.(=) g.32671909C>T Copied from the Exome Variant Server IQCC_000013 1/13006 0/8600 1/4406 - - - - - - -
?/? c.186+21A>C r.(=) p.(=) g.32671919A>C Copied from the Exome Variant Server IQCC_000014 6/13006 0/8600 6/4406 - - - - - - -
?/? c.186+42del r.(=) p.(=) g.32671940del Copied from the Exome Variant Server IQCC_000016 1/12520 0/8254 1/4266 - - - - - - -
?/? c.187-41G>C r.(=) p.(=) g.32672069G>C Copied from the Exome Variant Server IQCC_000018 3/12986 0/8594 3/4392 - - - - - - -
?/? c.187-33C>T r.(=) p.(=) g.32672077C>T Copied from the Exome Variant Server IQCC_000020 1/12994 0/8596 1/4398 - - - - - - -
?/? c.187-11_187-10del r.(=) p.(=) g.32672099_32672100del Copied from the Exome Variant Server IQCC_000022 1/12520 1/8254 0/4266 - - - - - - -
?/? c.220G>A r.(?) p.(Asp74Asn) g.32672143G>A Copied from the Exome Variant Server IQCC_000023 59/13006 0/8600 59/4406 - - - - - - -
?/? c.224G>A r.(?) p.(Arg75Lys) g.32672147G>A Copied from the Exome Variant Server IQCC_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.247C>T r.(=) p.(=) g.32672170C>T Copied from the Exome Variant Server IQCC_000025 5/13006 5/8600 0/4406 - - - - - - -
?/? c.266G>A r.(?) p.(Cys89Tyr) g.32672189G>A Copied from the Exome Variant Server IQCC_000026 10/13006 8/8600 2/4406 - - - - - - -
?/? c.317C>T r.(?) p.(Ser106Leu) g.32672240C>T Copied from the Exome Variant Server IQCC_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.354A>C r.(?) p.(Arg118Ser) g.32672277A>C Copied from the Exome Variant Server IQCC_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.384G>C r.(?) p.(Gln128His) g.32672307G>C Copied from the Exome Variant Server IQCC_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.385A>G r.(?) p.(Asn129Asp) g.32672308A>G Copied from the Exome Variant Server IQCC_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.388A>G r.(?) p.(Arg130Gly) g.32672311A>G Copied from the Exome Variant Server IQCC_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.410C>T r.(?) p.(Thr137Ile) g.32672333C>T Copied from the Exome Variant Server IQCC_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.438A>C r.(=) p.(=) g.32672361A>C Copied from the Exome Variant Server IQCC_000033 1/13006 1/8600 0/4406 - - - - - - -
?/? c.523C>T r.(=) p.(=) g.32672686C>T Copied from the Exome Variant Server IQCC_000034 1/13006 1/8600 0/4406 - - - - - - -
?/? c.550C>T r.(?) p.(Arg184Cys) g.32672713C>T Copied from the Exome Variant Server IQCC_000035 2/13006 1/8600 1/4406 - - - - - - -
?/? c.558+14G>A r.(=) p.(=) g.32672735G>A Copied from the Exome Variant Server IQCC_000036 29/13006 26/8600 3/4406 - - - - - - -
?/? c.559-25C>T r.(=) p.(=) g.32672816C>T Copied from the Exome Variant Server IQCC_000037 8/13006 7/8600 1/4406 - - - - - - -
?/? c.559-17G>A r.(=) p.(=) g.32672824G>A Copied from the Exome Variant Server IQCC_000039 1/13006 1/8600 0/4406 - - - - - - -
?/? c.559-15T>G r.(=) p.(=) g.32672826T>G Copied from the Exome Variant Server IQCC_000041 2/13006 2/8600 0/4406 - - - - - - -
?/? c.603G>A r.(=) p.(=) g.32672885G>A Copied from the Exome Variant Server IQCC_000043 2/13006 0/8600 2/4406 - - - - - - -
?/? c.611A>G r.(?) p.(Glu204Gly) g.32672893A>G Copied from the Exome Variant Server IQCC_000045 1/13006 0/8600 1/4406 - - - - - - -
?/? c.617C>T r.(?) p.(Pro206Leu) g.32672899C>T Copied from the Exome Variant Server IQCC_000047 1/13006 1/8600 0/4406 - - - - - - -
?/? c.619C>G r.(?) p.(Arg207Gly) g.32672901C>G Copied from the Exome Variant Server IQCC_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.621C>T r.(=) p.(=) g.32672903C>T Copied from the Exome Variant Server IQCC_000051 1/13006 0/8600 1/4406 - - - - - - -
?/? c.622G>A r.(?) p.(Val208Met) g.32672904G>A Copied from the Exome Variant Server IQCC_000053 3/13006 2/8600 1/4406 - - - - - - -
?/? c.626T>G r.(?) p.(Phe209Cys) g.32672908T>G Copied from the Exome Variant Server IQCC_000056 1845/13006 560/8600 1285/4406 - - - - - - -
?/? c.650G>A r.(?) p.(Cys217Tyr) g.32672932G>A Copied from the Exome Variant Server IQCC_000057 516/13006 460/8600 56/4406 - - - - - - -
?/? c.663G>A r.(=) p.(=) g.32672945G>A Copied from the Exome Variant Server IQCC_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.676G>A r.(?) p.(Ala226Thr) g.32672958G>A Copied from the Exome Variant Server IQCC_000061 7/13006 7/8600 0/4406 - - - - - - -
?/? c.761C>G r.(?) p.(Pro254Arg) g.32673043C>G Copied from the Exome Variant Server IQCC_000063 1/13006 1/8600 0/4406 - - - - - - -
?/? c.803T>C r.(?) p.(Ile268Thr) g.32673085T>C Copied from the Exome Variant Server IQCC_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.806C>T r.(?) p.(Ala269Val) g.32673088C>T Copied from the Exome Variant Server IQCC_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.854C>T r.(?) p.(Ser285Leu) g.32673136C>T Copied from the Exome Variant Server IQCC_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.877G>A r.(?) p.(Ala293Thr) g.32673159G>A Copied from the Exome Variant Server IQCC_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.902G>A r.(?) p.(Gly301Glu) g.32673184G>A Copied from the Exome Variant Server IQCC_000073 11/13006 10/8600 1/4406 - - - - - - -
?/? c.915A>C r.(=) p.(=) g.32673197A>C Copied from the Exome Variant Server IQCC_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.933G>A r.(=) p.(=) g.32673215G>A Copied from the Exome Variant Server IQCC_000076 3/13006 0/8600 3/4406 - - - - - - -
?/? c.966C>T r.(=) p.(=) g.32673248C>T Copied from the Exome Variant Server IQCC_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.997C>T r.(?) p.(His333Tyr) g.32673279C>T Copied from the Exome Variant Server IQCC_000078 5/13006 0/8600 5/4406 - - - - - - -
?/? c.1037A>G r.(?) p.(Tyr346Cys) g.32673319A>G Copied from the Exome Variant Server IQCC_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1099C>T r.(?) p.(Arg367*) g.32673381C>T Copied from the Exome Variant Server IQCC_000080 8/13006 6/8600 2/4406 - - - - - - -
?/? c.1100G>A r.(?) p.(Arg367Gln) g.32673382G>A Copied from the Exome Variant Server IQCC_000038 7/13006 7/8600 0/4406 - - - - - - -
?/? c.1112C>T r.(?) p.(Thr371Ile) g.32673394C>T Copied from the Exome Variant Server IQCC_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1159del r.(?) p.(Leu387Trpfs*83) g.32673441del Copied from the Exome Variant Server IQCC_000042 18/12518 12/8252 6/4266 - - - - - - -
?/? c.1159T>C r.(=) p.(=) g.32673441T>C Copied from the Exome Variant Server IQCC_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1162G>T r.(?) p.(Gly388Trp) g.32673444G>T Copied from the Exome Variant Server IQCC_000046 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1163G>C r.(?) p.(Gly388Ala) g.32673445G>C Copied from the Exome Variant Server IQCC_000048 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1178G>A r.(?) p.(Ser393Asn) g.32673460G>A Copied from the Exome Variant Server IQCC_000050 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1186G>A r.(?) p.(Asp396Asn) g.32673468G>A Copied from the Exome Variant Server IQCC_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1230T>C r.(=) p.(=) g.32673512T>C Copied from the Exome Variant Server IQCC_000054 73/13006 1/8600 72/4406 - - - - - - -
?/? c.1232G>C r.(?) p.(Arg411Thr) g.32673514G>C Copied from the Exome Variant Server IQCC_000055 21/13006 18/8600 3/4406 - - - - - - -
?/? c.1234A>C r.(?) p.(Ser412Arg) g.32673516A>C Copied from the Exome Variant Server IQCC_000058 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1258G>A r.(?) p.(Glu420Lys) g.32673540G>A Copied from the Exome Variant Server IQCC_000060 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1302G>A r.(?) p.(Trp434*) g.32673584G>A Copied from the Exome Variant Server IQCC_000062 6/13006 6/8600 0/4406 - - - - - - -
?/? c.1316C>T r.(?) p.(Pro439Leu) g.32673598C>T Copied from the Exome Variant Server IQCC_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1336A>G r.(?) p.(Lys446Glu) g.32673618A>G Copied from the Exome Variant Server IQCC_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1343G>T r.(?) p.(Gly448Val) g.32673625G>T Copied from the Exome Variant Server IQCC_000067 7/13006 0/8600 7/4406 - - - - - - -
?/? c.1346G>T r.(?) p.(Cys449Phe) g.32673628G>T Copied from the Exome Variant Server IQCC_000069 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1351G>C r.(?) p.(Gly451Arg) g.32673633G>C Copied from the Exome Variant Server IQCC_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1387G>A r.(?) p.(Glu463Lys) g.32673669G>A Copied from the Exome Variant Server IQCC_000072 1/13004 1/8600 0/4404 - - - - - - -
?/? c.1391C>T r.(?) p.(Pro464Leu) g.32673673C>T Copied from the Exome Variant Server IQCC_000074 61/13004 53/8600 8/4404 - - - - - - -
Legend