Full data view for gene DIRC2

Information The variants shown are described using the NM_032839.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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.93_95del r.(?) p.(Ala36del) g.122514132_122514134del Copied from the Exome Variant Server DIRC2_000001 31/6472 15/4546 16/1926 - - - - - - -
?/? c.177G>A r.(=) p.(=) g.122514216G>A Copied from the Exome Variant Server DIRC2_000002 1/12998 0/8596 1/4402 - - - - - - -
?/? c.209A>G r.(?) p.(Asn70Ser) g.122514248A>G Copied from the Exome Variant Server DIRC2_000003 1/13004 1/8600 0/4404 - - - - - - -
?/? c.343+5del r.spl? p.? g.122514387del Copied from the Exome Variant Server DIRC2_000004 28/12482 1/8236 27/4246 - - - - - - -
?/? c.344-2A>G r.spl? p.? g.122525702A>G Copied from the Exome Variant Server DIRC2_000005 1/13004 0/8598 1/4406 - - - - - - -
?/? c.349C>T r.(?) p.(Arg117Trp) g.122525709C>T Copied from the Exome Variant Server DIRC2_000006 1/13004 1/8598 0/4406 - - - - - - -
?/? c.351G>T r.(=) p.(=) g.122525711G>T Copied from the Exome Variant Server DIRC2_000007 1/13004 0/8598 1/4406 - - - - - - -
?/? c.394G>T r.(?) p.(Gly132Cys) g.122525754G>T Copied from the Exome Variant Server DIRC2_000008 2/13006 0/8600 2/4406 - - - - - - -
?/? c.397C>G r.(?) p.(Leu133Val) g.122525757C>G Copied from the Exome Variant Server DIRC2_000009 2/13006 2/8600 0/4406 - - - - - - -
?/? c.398T>C r.(?) p.(Leu133Pro) g.122525758T>C Copied from the Exome Variant Server DIRC2_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.412A>G r.(?) p.(Ile138Val) g.122525772A>G Copied from the Exome Variant Server DIRC2_000011 1/13006 0/8600 1/4406 - - - - - - -
?/? c.437+23C>G r.(=) p.(=) g.122525820C>G Copied from the Exome Variant Server DIRC2_000013 2/13006 2/8600 0/4406 - - - - - - -
?/? c.437+46T>C r.(=) p.(=) g.122525843T>C Copied from the Exome Variant Server DIRC2_000015 1/12998 0/8592 1/4406 - - - - - - -
?/? c.438-42C>T r.(=) p.(=) g.122545605C>T Copied from the Exome Variant Server DIRC2_000017 5/12992 4/8594 1/4398 - - - - - - -
?/? c.438-10T>C r.(=) p.(=) g.122545637T>C Copied from the Exome Variant Server DIRC2_000019 15/13006 13/8600 2/4406 - - - - - - -
?/? c.512C>T r.(?) p.(Thr171Met) g.122545721C>T Copied from the Exome Variant Server DIRC2_000021 2/13006 2/8600 0/4406 - - - - - - -
?/? c.515C>T r.(?) p.(Thr172Met) g.122545724C>T Copied from the Exome Variant Server DIRC2_000023 1/13006 1/8600 0/4406 - - - - - - -
?/? c.516G>T r.(=) p.(=) g.122545725G>T Copied from the Exome Variant Server DIRC2_000025 1/13006 0/8600 1/4406 - - - - - - -
?/? c.585A>G r.(=) p.(=) g.122545794A>G Copied from the Exome Variant Server DIRC2_000027 1/13006 0/8600 1/4406 - - - - - - -
?/? c.665C>T r.(?) p.(Ala222Val) g.122545874C>T Copied from the Exome Variant Server DIRC2_000012 1/13006 0/8600 1/4406 - - - - - - -
?/? c.676G>T r.(?) p.(Asp226Tyr) g.122545885G>T Copied from the Exome Variant Server DIRC2_000014 4/13006 3/8600 1/4406 - - - - - - -
?/? c.678T>A r.(?) p.(Asp226Glu) g.122545887T>A Copied from the Exome Variant Server DIRC2_000016 1/13006 0/8600 1/4406 - - - - - - -
?/? c.682A>G r.(?) p.(Ile228Val) g.122545891A>G Copied from the Exome Variant Server DIRC2_000018 14/13006 0/8600 14/4406 - - - - - - -
?/? c.690T>C r.(=) p.(=) g.122545899T>C Copied from the Exome Variant Server DIRC2_000020 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703+16del r.(=) p.(=) g.122545928del Copied from the Exome Variant Server DIRC2_000022 1/12520 0/8254 1/4266 - - - - - - -
?/? c.704-40del r.(=) p.(=) g.122552124del Copied from the Exome Variant Server DIRC2_000024 4/12520 3/8254 1/4266 - - - - - - -
?/? c.704-14del r.(=) p.(=) g.122552150del Copied from the Exome Variant Server DIRC2_000026 10/12520 7/8254 3/4266 - - - - - - -
?/? c.704-2A>G r.spl? p.? g.122552162A>G Copied from the Exome Variant Server DIRC2_000028 3/13006 0/8600 3/4406 - - - - - - -
?/? c.735A>G r.(=) p.(=) g.122552195A>G Copied from the Exome Variant Server DIRC2_000029 1/13006 1/8600 0/4406 - - - - - - -
?/? c.758G>A r.(?) p.(Arg253Gln) g.122552218G>A Copied from the Exome Variant Server DIRC2_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.816C>T r.(=) p.(=) g.122552276C>T Copied from the Exome Variant Server DIRC2_000031 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842G>A r.(?) p.(Arg281Gln) g.122564618G>A Copied from the Exome Variant Server DIRC2_000032 2/13006 2/8600 0/4406 - - - - - - -
?/? c.942+13T>C r.(=) p.(=) g.122564731T>C Copied from the Exome Variant Server DIRC2_000033 2/13002 0/8600 2/4402 - - - - - - -
?/? c.943-22G>A r.(=) p.(=) g.122575132G>A Copied from the Exome Variant Server DIRC2_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.991G>C r.(?) p.(Val331Leu) g.122575202G>C Copied from the Exome Variant Server DIRC2_000035 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1010+68C>T r.(=) p.(=) g.122575289C>T Copied from the Exome Variant Server DIRC2_000036 42/4566 41/3182 1/1384 - - - - - - -
?/? c.1011-34C>A r.(=) p.(=) g.122578888C>A Copied from the Exome Variant Server DIRC2_000037 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1085C>T r.(?) p.(Thr362Met) g.122578996C>T Copied from the Exome Variant Server DIRC2_000038 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1086G>A r.(=) p.(=) g.122578997G>A Copied from the Exome Variant Server DIRC2_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1132A>T r.(?) p.(Thr378Ser) g.122579043A>T Copied from the Exome Variant Server DIRC2_000040 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1138+11G>A r.(=) p.(=) g.122579060G>A Copied from the Exome Variant Server DIRC2_000041 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1138+14A>G r.(=) p.(=) g.122579063A>G Copied from the Exome Variant Server DIRC2_000042 101/13006 4/8600 97/4406 - - - - - - -
?/? c.1138+53del r.(=) p.(=) g.122579102del Copied from the Exome Variant Server DIRC2_000043 1/12520 0/8254 1/4266 - - - - - - -
?/? c.1139-37C>T r.(=) p.(=) g.122591225C>T Copied from the Exome Variant Server DIRC2_000044 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1139-32G>A r.(=) p.(=) g.122591230G>A Copied from the Exome Variant Server DIRC2_000045 419/13006 389/8600 30/4406 - - - - - - -
?/? c.1143A>G r.(=) p.(=) g.122591266A>G Copied from the Exome Variant Server DIRC2_000046 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1188C>T r.(=) p.(=) g.122591311C>T Copied from the Exome Variant Server DIRC2_000047 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1267_1274del r.(?) p.(Leu423Tyrfs*43) g.122591390_122591397del Copied from the Exome Variant Server DIRC2_000048 1/12516 1/8250 0/4266 - - - - - - -
?/? c.1296A>G r.(=) p.(=) g.122591419A>G Copied from the Exome Variant Server DIRC2_000049 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1322-37_1322-36insT r.(=) p.(=) g.122598073_122598074insT Copied from the Exome Variant Server DIRC2_000050 1/12520 1/8254 0/4266 - - - - - - -
?/? c.1322-15T>C r.(=) p.(=) g.122598095T>C Copied from the Exome Variant Server DIRC2_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1349C>T r.(?) p.(Pro450Leu) g.122598137C>T Copied from the Exome Variant Server DIRC2_000052 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1350C>T r.(=) p.(=) g.122598138C>T Copied from the Exome Variant Server DIRC2_000053 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1408_1409del r.(?) p.(Tyr471Serfs*2) g.122598196_122598197del Copied from the Exome Variant Server DIRC2_000054 1/12518 1/8252 0/4266 - - - - - - -
?/? c.1420G>A r.(?) p.(Val474Met) g.122598208G>A Copied from the Exome Variant Server DIRC2_000055 1/13006 1/8600 0/4406 - - - - - - -
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