Full data view for gene MIB1

Information The variants shown are described using the NM_020774.2 transcript reference sequence.

173 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.37G>C r.(?) p.(Gly13Arg) g.19321581G>C Copied from the Exome Variant Server MIB1_000001 1/12966 1/8586 0/4380 - - - - - - -
?/? c.46G>T r.(?) p.(Ala16Ser) g.19321590G>T Copied from the Exome Variant Server MIB1_000002 1/12984 1/8590 0/4394 - - - - - - -
?/? c.51G>T r.(=) p.(=) g.19321595G>T Copied from the Exome Variant Server MIB1_000003 2/12974 0/8584 2/4390 - - - - - - -
?/? c.60C>T r.(=) p.(=) g.19321604C>T Copied from the Exome Variant Server MIB1_000004 7/12970 6/8578 1/4392 - - - - - - -
?/? c.105T>C r.(=) p.(=) g.19321649T>C Copied from the Exome Variant Server MIB1_000005 2/12972 0/8586 2/4386 - - - - - - -
?/? c.138G>A r.(=) p.(=) g.19321682G>A Copied from the Exome Variant Server MIB1_000006 1/12994 1/8592 0/4402 - - - - - - -
?/? c.141_143del r.(?) p.(Val51del) g.19321685_19321687del Copied from the Exome Variant Server MIB1_000007 54/12504 37/8248 17/4256 - - - - - - -
?/? c.180C>T r.(=) p.(=) g.19321724C>T Copied from the Exome Variant Server MIB1_000008 3/12996 2/8596 1/4400 - - - - - - -
?/? c.187_188insC r.(?) p.(Gly64Argfs*18) g.19321731_19321732insC Copied from the Exome Variant Server MIB1_000009 1/12496 1/8242 0/4254 - - - - - - -
?/? c.229+3A>G r.spl? p.? g.19321776A>G Copied from the Exome Variant Server MIB1_000010 2/12630 0/8376 2/4254 - - - - - - -
?/? c.229+14A>G r.(=) p.(=) g.19321787A>G Copied from the Exome Variant Server MIB1_000011 3/12578 0/8352 3/4226 - - - - - - -
?/? c.229+37G>T r.(=) p.(=) g.19321810G>T Copied from the Exome Variant Server MIB1_000012 2/12116 0/8004 2/4112 - - - - - - -
?/? c.229+42G>T r.(=) p.(=) g.19321815G>T Copied from the Exome Variant Server MIB1_000013 4/12052 4/7968 0/4084 - - - - - - -
?/? c.230-29A>C r.(=) p.(=) g.19345704A>C Copied from the Exome Variant Server MIB1_000014 498/13004 1/8598 497/4406 - - - - - - -
?/? c.230-18G>C r.(=) p.(=) g.19345715G>C Copied from the Exome Variant Server MIB1_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.230-13C>A r.(=) p.(=) g.19345720C>A Copied from the Exome Variant Server MIB1_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.281T>A r.(?) p.(Ile94Asn) g.19345784T>A Copied from the Exome Variant Server MIB1_000017 1/13006 0/8600 1/4406 - - - - - - -
?/? c.289C>T r.(?) p.(Arg97*) g.19345792C>T Copied from the Exome Variant Server MIB1_000018 1/13006 1/8600 0/4406 - - - - - - -
?/? c.401+23T>A r.(=) p.(=) g.19345927T>A Copied from the Exome Variant Server MIB1_000019 2/13006 2/8600 0/4406 - - - - - - -
?/? c.401+28C>T r.(=) p.(=) g.19345932C>T Copied from the Exome Variant Server MIB1_000020 498/13006 1/8600 497/4406 - - - - - - -
?/? c.401+29G>A r.(=) p.(=) g.19345933G>A Copied from the Exome Variant Server MIB1_000021 1/13006 1/8600 0/4406 - - - - - - -
?/? c.442G>T r.(?) p.(Ala148Ser) g.19348624G>T Copied from the Exome Variant Server MIB1_000022 2/13004 0/8598 2/4406 - - - - - - -
?/? c.476G>A r.(?) p.(Arg159Gln) g.19348658G>A Copied from the Exome Variant Server MIB1_000023 2/13004 2/8598 0/4406 - - - - - - -
?/? c.496G>T r.(?) p.(Glu166*) g.19348678G>T Copied from the Exome Variant Server MIB1_000024 1/13006 0/8600 1/4406 - - - - - - -
?/? c.531+38T>C r.(=) p.(=) g.19348751T>C Copied from the Exome Variant Server MIB1_000025 4/13006 4/8600 0/4406 - - - - - - -
?/? c.532-25C>A r.(=) p.(=) g.19353560C>A Copied from the Exome Variant Server MIB1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.571_572insG r.(?) p.(Ser191Argfs*9) g.19353624_19353625insG Copied from the Exome Variant Server MIB1_000027 1/12518 0/8254 1/4264 - - - - - - -
?/? c.573C>T r.(=) p.(=) g.19353626C>T Copied from the Exome Variant Server MIB1_000028 2/13006 0/8600 2/4406 - - - - - - -
?/? c.603T>G r.(=) p.(=) g.19353656T>G Copied from the Exome Variant Server MIB1_000029 15/13006 0/8600 15/4406 - - - - - - -
?/? c.615C>T r.(=) p.(=) g.19353668C>T Copied from the Exome Variant Server MIB1_000030 6/13006 0/8600 6/4406 - - - - - - -
?/? c.636+25G>T r.(=) p.(=) g.19353714G>T Copied from the Exome Variant Server MIB1_000031 22/13006 0/8600 22/4406 - - - - - - -
?/? c.637-25T>G r.(=) p.(=) g.19358039T>G Copied from the Exome Variant Server MIB1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.643C>G r.(?) p.(Leu215Val) g.19358070C>G Copied from the Exome Variant Server MIB1_000033 1/13006 0/8600 1/4406 - - - - - - -
?/? c.648_649insT r.(?) p.(Cys217Leufs*20) g.19358075_19358076insT Copied from the Exome Variant Server MIB1_000034 1/12518 1/8254 0/4264 - - - - - - -
?/? c.692G>T r.(?) p.(Cys231Phe) g.19358119G>T Copied from the Exome Variant Server MIB1_000035 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703+1G>A r.spl? p.? g.19358131G>A Copied from the Exome Variant Server MIB1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.703+26A>G r.(=) p.(=) g.19358156A>G Copied from the Exome Variant Server MIB1_000037 1/13006 0/8600 1/4406 - - - - - - -
?/? c.703+50del r.(=) p.(=) g.19358180del Copied from the Exome Variant Server MIB1_000038 3/12518 0/8254 3/4264 - - - - - - -
?/? c.704-39del r.(=) p.(=) g.19359403del Copied from the Exome Variant Server MIB1_000039 144/12518 2/8254 142/4264 - - - - - - -
?/? c.704-30C>T r.(=) p.(=) g.19359412C>T Copied from the Exome Variant Server MIB1_000040 1/13006 0/8600 1/4406 - - - - - - -
?/? c.704-27T>A r.(=) p.(=) g.19359415T>A Copied from the Exome Variant Server MIB1_000041 32/13006 0/8600 32/4406 - - - - - - -
?/? c.704-19A>G r.(=) p.(=) g.19359423A>G Copied from the Exome Variant Server MIB1_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.735A>G r.(=) p.(=) g.19359473A>G Copied from the Exome Variant Server MIB1_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.736T>C r.(=) p.(=) g.19359474T>C Copied from the Exome Variant Server MIB1_000044 5/13006 5/8600 0/4406 - - - - - - -
?/? c.774C>A r.(=) p.(=) g.19359512C>A Copied from the Exome Variant Server MIB1_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.843A>T r.(=) p.(=) g.19359581A>T Copied from the Exome Variant Server MIB1_000046 32/13006 0/8600 32/4406 - - - - - - -
?/? c.908+52A>G r.(=) p.(=) g.19359698A>G Copied from the Exome Variant Server MIB1_000047 1/7270 0/4616 1/2654 - - - - - - -
?/? c.909-51A>G r.(=) p.(=) g.19371284A>G Copied from the Exome Variant Server MIB1_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.909-48A>G r.(=) p.(=) g.19371287A>G Copied from the Exome Variant Server MIB1_000049 23/13006 20/8600 3/4406 - - - - - - -
?/? c.909-39C>T r.(=) p.(=) g.19371296C>T Copied from the Exome Variant Server MIB1_000050 10/13006 0/8600 10/4406 - - - - - - -
?/? c.909-37A>G r.(=) p.(=) g.19371298A>G Copied from the Exome Variant Server MIB1_000051 128/13006 0/8600 128/4406 - - - - - - -
?/? c.909-7C>G r.(=) p.(=) g.19371328C>G Copied from the Exome Variant Server MIB1_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952C>T r.(?) p.(Arg318*) g.19371378C>T Copied from the Exome Variant Server MIB1_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.993G>A r.(=) p.(=) g.19371419G>A Copied from the Exome Variant Server MIB1_000054 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1039C>T r.(?) p.(Arg347*) g.19371465C>T Copied from the Exome Variant Server MIB1_000055 3/13006 1/8600 2/4406 - - - - - - -
?/? c.1092+3A>G r.spl? p.? g.19371521A>G Copied from the Exome Variant Server MIB1_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1092+48T>C r.(=) p.(=) g.19371566T>C Copied from the Exome Variant Server MIB1_000057 3/13000 3/8596 0/4404 - - - - - - -
?/? c.1093-44A>G r.(=) p.(=) g.19378001A>G Copied from the Exome Variant Server MIB1_000058 1/12994 1/8590 0/4404 - - - - - - -
?/? c.1093-14del r.(=) p.(=) g.19378031del Copied from the Exome Variant Server MIB1_000059 4/12516 0/8252 4/4264 - - - - - - -
?/? c.1097T>C r.(?) p.(Leu366Ser) g.19378049T>C Copied from the Exome Variant Server MIB1_000060 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1111C>T r.(?) p.(Arg371*) g.19378063C>T Copied from the Exome Variant Server MIB1_000061 4/13004 3/8598 1/4406 - - - - - - -
?/? c.1112G>A r.(?) p.(Arg371Gln) g.19378064G>A Copied from the Exome Variant Server MIB1_000062 1/13004 1/8598 0/4406 - - - - - - -
?/? c.1113A>T r.(=) p.(=) g.19378065A>T Copied from the Exome Variant Server MIB1_000063 2/13004 0/8598 2/4406 - - - - - - -
?/? c.1178A>G r.(?) p.(Asn393Ser) g.19378130A>G Copied from the Exome Variant Server MIB1_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1235G>A r.(?) p.(Gly412Asp) g.19378187G>A Copied from the Exome Variant Server MIB1_000065 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1237+6T>C r.(=) p.(=) g.19378195T>C Copied from the Exome Variant Server MIB1_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1237+32A>G r.(=) p.(=) g.19378221A>G Copied from the Exome Variant Server MIB1_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1238-28A>G r.(=) p.(=) g.19379774A>G Copied from the Exome Variant Server MIB1_000068 1/13000 1/8596 0/4404 - - - - - - -
?/? c.1371+5G>A r.spl? p.? g.19379940G>A Copied from the Exome Variant Server MIB1_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1372-30_1372-27del r.(=) p.(=) g.19383838_19383841del Copied from the Exome Variant Server MIB1_000070 71/12514 46/8254 25/4260 - - - - - - -
?/? c.1372-27T>A r.(=) p.(=) g.19383841T>A Copied from the Exome Variant Server MIB1_000071 2/13004 2/8600 0/4404 - - - - - - -
?/? c.1410T>C r.(=) p.(=) g.19383906T>C Copied from the Exome Variant Server MIB1_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1435A>G r.(?) p.(Ile479Val) g.19383931A>G Copied from the Exome Variant Server MIB1_000073 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1479+18A>G r.(=) p.(=) g.19383993A>G Copied from the Exome Variant Server MIB1_000074 3/13004 3/8600 0/4404 - - - - - - -
?/? c.1480-39A>C r.(=) p.(=) g.19395538A>C Copied from the Exome Variant Server MIB1_000075 1/12984 1/8586 0/4398 - - - - - - -
?/? c.1480-7_1480-4del r.spl? p.? g.19395570_19395573del Copied from the Exome Variant Server MIB1_000076 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1514C>G r.(?) p.(Ala505Gly) g.19395611C>G Copied from the Exome Variant Server MIB1_000077 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1530C>T r.(=) p.(=) g.19395627C>T Copied from the Exome Variant Server MIB1_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1531G>A r.(?) p.(Ala511Thr) g.19395628G>A Copied from the Exome Variant Server MIB1_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1545A>T r.(=) p.(=) g.19395642A>T Copied from the Exome Variant Server MIB1_000080 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1559del r.(?) p.(Ser520Metfs*4) g.19395656del Copied from the Exome Variant Server MIB1_000081 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1654del r.(?) p.(Phe552Leufs*20) g.19395751del Copied from the Exome Variant Server MIB1_000082 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1677+16A>T r.(=) p.(=) g.19395790A>T Copied from the Exome Variant Server MIB1_000083 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1677+19del r.(=) p.(=) g.19395793del Copied from the Exome Variant Server MIB1_000084 1/12518 1/8254 0/4264 - - - - - - -
?/? c.1677+20A>T r.(=) p.(=) g.19395794A>T Copied from the Exome Variant Server MIB1_000085 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1678-21del r.(=) p.(=) g.19399435del Copied from the Exome Variant Server MIB1_000086 3/12518 1/8254 2/4264 - - - - - - -
?/? c.1704T>C r.(=) p.(=) g.19399482T>C Copied from the Exome Variant Server MIB1_000087 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1736T>C r.(?) p.(Leu579Pro) g.19399514T>C Copied from the Exome Variant Server MIB1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1771A>T r.(?) p.(Ile591Phe) g.19399549A>T Copied from the Exome Variant Server MIB1_000089 4/13006 3/8600 1/4406 - - - - - - -
?/? c.1829+1G>T r.spl? p.? g.19399608G>T Copied from the Exome Variant Server MIB1_000090 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1829+6005C>G r.(=) p.(=) g.19405612C>G Copied from the Exome Variant Server MIB1_000091 17/10298 0/7164 17/3134 - - - - - - -
?/? c.1829+6033G>A r.(=) p.(=) g.19405640G>A Copied from the Exome Variant Server MIB1_000092 5/10300 0/7164 5/3136 - - - - - - -
?/? c.1829+6034T>G r.(=) p.(=) g.19405641T>G Copied from the Exome Variant Server MIB1_000093 1/10300 1/7164 0/3136 - - - - - - -
?/? c.1829+6065A>G r.(=) p.(=) g.19405672A>G Copied from the Exome Variant Server MIB1_000094 4/10300 0/7164 4/3136 - - - - - - -
?/? c.1829+6069C>T r.(=) p.(=) g.19405676C>T Copied from the Exome Variant Server MIB1_000095 1/10300 1/7164 0/3136 - - - - - - -
?/? c.1829+6128G>T r.(=) p.(=) g.19405735G>T Copied from the Exome Variant Server MIB1_000096 1/10298 1/7164 0/3134 - - - - - - -
?/? c.1829+6136T>C r.(=) p.(=) g.19405743T>C Copied from the Exome Variant Server MIB1_000097 1/10298 1/7164 0/3134 - - - - - - -
?/? c.1829+6210A>G r.(=) p.(=) g.19405817A>G Copied from the Exome Variant Server MIB1_000098 2/4566 0/3182 2/1384 - - - - - - -
?/? c.1829+9284A>G r.(=) p.(=) g.19408891A>G Copied from the Exome Variant Server MIB1_000099 458/4566 276/3182 182/1384 - - - - - - -
?/? c.1829+9306A>G r.(=) p.(=) g.19408913A>G Copied from the Exome Variant Server MIB1_000100 6/4560 0/3176 6/1384 - - - - - - -
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