Full data view for gene MCM8

Information The variants shown are described using the NM_032485.4 transcript reference sequence.

196 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.-5-40T>C r.(=) p.(=) g.5932617T>C Copied from the Exome Variant Server MCM8_000001 1/12988 1/8594 0/4394 - - - - - - -
?/? c.-5-15A>G r.(=) p.(=) g.5932642A>G Copied from the Exome Variant Server MCM8_000002 1/13004 0/8600 1/4404 - - - - - - -
?/? c.-5-8T>C r.(=) p.(=) g.5932649T>C Copied from the Exome Variant Server MCM8_000003 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-5-7C>T r.(=) p.(=) g.5932650C>T Copied from the Exome Variant Server MCM8_000004 171/13006 152/8600 19/4406 - - - - - - -
?/? c.-3G>A r.(=) p.(=) g.5932659G>A Copied from the Exome Variant Server MCM8_000005 1/13006 1/8600 0/4406 - - - - - - -
?/? c.70G>A r.(?) p.(Gly24Ser) g.5932731G>A Copied from the Exome Variant Server MCM8_000006 1/13006 0/8600 1/4406 - - - - - - -
?/? c.128C>G r.(?) p.(Thr43Ser) g.5932789C>G Copied from the Exome Variant Server MCM8_000007 3/13006 3/8600 0/4406 - - - - - - -
?/? c.148+18_148+20del r.(=) p.(=) g.5932827_5932829del Copied from the Exome Variant Server MCM8_000008 2/12516 2/8252 0/4264 - - - - - - -
?/? c.148+25A>G r.(=) p.(=) g.5932834A>G Copied from the Exome Variant Server MCM8_000009 1/13006 1/8600 0/4406 - - - - - - -
?/? c.148+26T>C r.(=) p.(=) g.5932835T>C Copied from the Exome Variant Server MCM8_000010 1/13006 1/8600 0/4406 - - - - - - -
?/? c.148+37_148+38insAATG r.(=) p.(=) g.5932846_5932847insAATG Copied from the Exome Variant Server MCM8_000011 435/12516 27/8252 408/4264 - - - - - - -
?/? c.148+52C>T r.(=) p.(=) g.5932861C>T Copied from the Exome Variant Server MCM8_000012 1/7272 1/4618 0/2654 - - - - - - -
?/? c.149-37_149-36del r.(=) p.(=) g.5933033_5933034del Copied from the Exome Variant Server MCM8_000013 362/12506 24/8250 338/4256 - - - - - - -
?/? c.149-25T>C r.(=) p.(=) g.5933045T>C Copied from the Exome Variant Server MCM8_000014 1/13002 0/8598 1/4404 - - - - - - -
?/? c.173C>T r.(?) p.(Ser58Leu) g.5933094C>T Copied from the Exome Variant Server MCM8_000015 1/13006 1/8600 0/4406 - - - - - - -
?/? c.182C>T r.(?) p.(Thr61Ile) g.5933103C>T Copied from the Exome Variant Server MCM8_000016 1/13006 1/8600 0/4406 - - - - - - -
?/? c.187C>A r.(?) p.(Gln63Lys) g.5933108C>A Copied from the Exome Variant Server MCM8_000017 2969/13006 1014/8600 1955/4406 - - - - - - -
?/? c.193A>G r.(?) p.(Met65Val) g.5933114A>G Copied from the Exome Variant Server MCM8_000018 1/13006 0/8600 1/4406 - - - - - - -
?/? c.198G>A r.(=) p.(=) g.5933119G>A Copied from the Exome Variant Server MCM8_000019 10/13004 10/8598 0/4406 - - - - - - -
?/? c.205T>C r.(=) p.(=) g.5933126T>C Copied from the Exome Variant Server MCM8_000020 3/13004 2/8598 1/4406 - - - - - - -
?/? c.209A>G r.(?) p.(Asp70Gly) g.5933130A>G Copied from the Exome Variant Server MCM8_000021 1/13004 0/8598 1/4406 - - - - - - -
?/? c.248C>T r.(?) p.(Ser83Phe) g.5933169C>T Copied from the Exome Variant Server MCM8_000022 1/13004 0/8598 1/4406 - - - - - - -
?/? c.253+6G>A r.(=) p.(=) g.5933180G>A Copied from the Exome Variant Server MCM8_000023 1/13004 1/8598 0/4406 - - - - - - -
?/? c.253+28C>T r.(=) p.(=) g.5933202C>T Copied from the Exome Variant Server MCM8_000024 1/13004 1/8598 0/4406 - - - - - - -
?/? c.253+36C>T r.(=) p.(=) g.5933210C>T Copied from the Exome Variant Server MCM8_000025 18/13004 0/8598 18/4406 - - - - - - -
?/? c.254-48C>T r.(=) p.(=) g.5935206C>T Copied from the Exome Variant Server MCM8_000026 1/13004 1/8600 0/4404 - - - - - - -
?/? c.254-45G>A r.(=) p.(=) g.5935209G>A Copied from the Exome Variant Server MCM8_000027 1/13004 0/8600 1/4404 - - - - - - -
?/? c.254-16A>G r.(=) p.(=) g.5935238A>G Copied from the Exome Variant Server MCM8_000028 50/13006 0/8600 50/4406 - - - - - - -
?/? c.262G>A r.(?) p.(Asp88Asn) g.5935262G>A Copied from the Exome Variant Server MCM8_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.281A>G r.(?) p.(Glu94Gly) g.5935281A>G Copied from the Exome Variant Server MCM8_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.292G>C r.(?) p.(Ala98Pro) g.5935292G>C Copied from the Exome Variant Server MCM8_000031 62/13002 0/8600 62/4402 - - - - - - -
?/? c.303A>C r.(?) p.(Lys101Asn) g.5935303A>C Copied from the Exome Variant Server MCM8_000032 835/13002 183/8600 652/4402 - - - - - - -
?/? c.312A>G r.(=) p.(=) g.5935312A>G Copied from the Exome Variant Server MCM8_000033 1/13002 0/8600 1/4402 - - - - - - -
?/? c.325T>G r.(?) p.(Leu109Val) g.5935325T>G Copied from the Exome Variant Server MCM8_000034 53/13002 0/8600 53/4402 - - - - - - -
?/? c.336+6A>G r.(=) p.(=) g.5935342A>G Copied from the Exome Variant Server MCM8_000035 1/13004 0/8600 1/4404 - - - - - - -
?/? c.336+36G>A r.(=) p.(=) g.5935372G>A Copied from the Exome Variant Server MCM8_000036 3/13002 0/8598 3/4404 - - - - - - -
?/? c.336+49del r.(=) p.(=) g.5935385del Copied from the Exome Variant Server MCM8_000037 3/12516 0/8254 3/4262 - - - - - - -
?/? c.336+49T>C r.(=) p.(=) g.5935385T>C Copied from the Exome Variant Server MCM8_000038 10777/13006 6758/8600 4019/4406 - - - - - - -
?/? c.336+55C>T r.(=) p.(=) g.5935391C>T Copied from the Exome Variant Server MCM8_000039 21/4566 0/3182 21/1384 - - - - - - -
?/? c.337-15_337-9del r.(=) p.(=) g.5935733_5935739del Copied from the Exome Variant Server MCM8_000040 6/12474 4/8244 2/4230 - - - - - - -
?/? c.345_348del r.(?) p.(Lys118Glufs*5) g.5935756_5935759del Copied from the Exome Variant Server MCM8_000041 8/12514 5/8252 3/4262 - - - - - - -
?/? c.392G>A r.(?) p.(Gly131Asp) g.5935803G>A Copied from the Exome Variant Server MCM8_000042 1/13006 0/8600 1/4406 - - - - - - -
?/? c.408C>T r.(=) p.(=) g.5935819C>T Copied from the Exome Variant Server MCM8_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.411G>A r.(=) p.(=) g.5935822G>A Copied from the Exome Variant Server MCM8_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.414A>G r.(?) p.(Ile138Met) g.5935825A>G Copied from the Exome Variant Server MCM8_000045 43/13006 39/8600 4/4406 - - - - - - -
?/? c.417A>G r.(=) p.(=) g.5935828A>G Copied from the Exome Variant Server MCM8_000046 3/13006 2/8600 1/4406 - - - - - - -
?/? c.421A>G r.(?) p.(Ile141Val) g.5935832A>G Copied from the Exome Variant Server MCM8_000047 11/13006 11/8600 0/4406 - - - - - - -
?/? c.461C>T r.(?) p.(Ala154Val) g.5935872C>T Copied from the Exome Variant Server MCM8_000048 1/13006 0/8600 1/4406 - - - - - - -
?/? c.464G>A r.(?) p.(Cys155Tyr) g.5935875G>A Copied from the Exome Variant Server MCM8_000049 151/13006 12/8600 139/4406 - - - - - - -
?/? c.478A>C r.(?) p.(Ile160Leu) g.5935889A>C Copied from the Exome Variant Server MCM8_000050 1/13006 0/8600 1/4406 - - - - - - -
?/? c.482A>G r.(?) p.(His161Arg) g.5935893A>G Copied from the Exome Variant Server MCM8_000051 15/13006 13/8600 2/4406 - - - - - - -
?/? c.484del r.(?) p.(Gln162Argfs*3) g.5935895del Copied from the Exome Variant Server MCM8_000052 1/12516 1/8252 0/4264 - - - - - - -
?/? c.486+7A>G r.(=) p.(=) g.5935904A>G Copied from the Exome Variant Server MCM8_000053 1/13006 0/8600 1/4406 - - - - - - -
?/? c.486+27T>C r.(=) p.(=) g.5935924T>C Copied from the Exome Variant Server MCM8_000054 3/13006 3/8600 0/4406 - - - - - - -
?/? c.487-28C>T r.(=) p.(=) g.5937744C>T Copied from the Exome Variant Server MCM8_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.510G>A r.(=) p.(=) g.5937795G>A Copied from the Exome Variant Server MCM8_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.519T>G r.(=) p.(=) g.5937804T>G Copied from the Exome Variant Server MCM8_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.548A>G r.(?) p.(Asn183Ser) g.5937833A>G Copied from the Exome Variant Server MCM8_000058 349/13006 19/8600 330/4406 - - - - - - -
?/? c.585T>C r.(=) p.(=) g.5937870T>C Copied from the Exome Variant Server MCM8_000059 3/13006 1/8600 2/4406 - - - - - - -
?/? c.590+30T>G r.(=) p.(=) g.5937905T>G Copied from the Exome Variant Server MCM8_000060 2/13006 1/8600 1/4406 - - - - - - -
?/? c.591-46T>C r.(=) p.(=) g.5939128T>C Copied from the Exome Variant Server MCM8_000061 22/13004 0/8600 22/4404 - - - - - - -
?/? c.591-16del r.(=) p.(=) g.5939158del Copied from the Exome Variant Server MCM8_000062 6/12518 4/8254 2/4264 - - - - - - -
?/? c.594G>A r.(=) p.(=) g.5939177G>A Copied from the Exome Variant Server MCM8_000063 3/13006 3/8600 0/4406 - - - - - - -
?/? c.615A>G r.(=) p.(=) g.5939198A>G Copied from the Exome Variant Server MCM8_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631A>C r.(=) p.(=) g.5939214A>C Copied from the Exome Variant Server MCM8_000065 913/13006 456/8600 457/4406 - - - - - - -
?/? c.638A>T r.(?) p.(Asn213Ile) g.5939221A>T Copied from the Exome Variant Server MCM8_000066 1/13006 1/8600 0/4406 - - - - - - -
?/? c.645T>C r.(=) p.(=) g.5939228T>C Copied from the Exome Variant Server MCM8_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.660T>C r.(=) p.(=) g.5939243T>C Copied from the Exome Variant Server MCM8_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.680G>A r.(?) p.(Arg227His) g.5939263G>A Copied from the Exome Variant Server MCM8_000069 1/13006 1/8600 0/4406 - - - - - - -
?/? c.729T>A r.(=) p.(=) g.5939312T>A Copied from the Exome Variant Server MCM8_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.731C>T r.(?) p.(Ala244Val) g.5939314C>T Copied from the Exome Variant Server MCM8_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.773A>G r.(?) p.(Tyr258Cys) g.5939356A>G Copied from the Exome Variant Server MCM8_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.790-51G>C r.(=) p.(=) g.5943869G>C Copied from the Exome Variant Server MCM8_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.790-14T>G r.(=) p.(=) g.5943906T>G Copied from the Exome Variant Server MCM8_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.794C>G r.(?) p.(Pro265Arg) g.5943924C>G Copied from the Exome Variant Server MCM8_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.808C>T r.(?) p.(Arg270*) g.5943938C>T Copied from the Exome Variant Server MCM8_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.826G>C r.(?) p.(Ala276Pro) g.5943956G>C Copied from the Exome Variant Server MCM8_000077 59/13006 6/8600 53/4406 - - - - - - -
?/? c.832C>T r.(?) p.(Arg278Cys) g.5943962C>T Copied from the Exome Variant Server MCM8_000078 4/13006 3/8600 1/4406 - - - - - - -
?/? c.844C>T r.(?) p.(Leu282Phe) g.5943974C>T Copied from the Exome Variant Server MCM8_000079 62/13006 0/8600 62/4406 - - - - - - -
?/? c.854C>T r.(?) p.(Thr285Met) g.5943984C>T Copied from the Exome Variant Server MCM8_000080 8/13006 0/8600 8/4406 - - - - - - -
?/? c.855G>A r.(=) p.(=) g.5943985G>A Copied from the Exome Variant Server MCM8_000081 87/13006 0/8600 87/4406 - - - - - - -
?/? c.875+7G>A r.(=) p.(=) g.5944012G>A Copied from the Exome Variant Server MCM8_000082 6/13006 6/8600 0/4406 - - - - - - -
?/? c.875+14C>T r.(=) p.(=) g.5944019C>T Copied from the Exome Variant Server MCM8_000083 2/13006 2/8600 0/4406 - - - - - - -
?/? c.875+28G>T r.(=) p.(=) g.5944033G>T Copied from the Exome Variant Server MCM8_000084 11/13006 0/8600 11/4406 - - - - - - -
?/? c.876-33del r.(=) p.(=) g.5948049del Copied from the Exome Variant Server MCM8_000085 4/12518 0/8254 4/4264 - - - - - - -
?/? c.876-25A>G r.(=) p.(=) g.5948057A>G Copied from the Exome Variant Server MCM8_000086 282/13006 254/8600 28/4406 - - - - - - -
?/? c.917G>A r.(?) p.(Arg306Gln) g.5948123G>A Copied from the Exome Variant Server MCM8_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.950A>C r.(?) p.(His317Pro) g.5948156A>C Copied from the Exome Variant Server MCM8_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.954T>C r.(=) p.(=) g.5948160T>C Copied from the Exome Variant Server MCM8_000089 34/13006 0/8600 34/4406 - - - - - - -
?/? c.965_981del r.(?) p.(Ser322Asnfs*20) g.5948171_5948187del Copied from the Exome Variant Server MCM8_000090 2284/12518 1442/8254 842/4264 - - - - - - -
?/? c.1021G>A r.(?) p.(Glu341Lys) g.5948227G>A Copied from the Exome Variant Server MCM8_000091 648/13006 595/8600 53/4406 - - - - - - -
?/? c.1027+20A>G r.(=) p.(=) g.5948253A>G Copied from the Exome Variant Server MCM8_000092 65/13006 0/8600 65/4406 - - - - - - -
?/? c.1027+24T>C r.(=) p.(=) g.5948257T>C Copied from the Exome Variant Server MCM8_000093 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1027+35A>G r.(=) p.(=) g.5948268A>G Copied from the Exome Variant Server MCM8_000094 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1027+38A>G r.(=) p.(=) g.5948271A>G Copied from the Exome Variant Server MCM8_000095 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1027+51G>A r.(=) p.(=) g.5948284G>A Copied from the Exome Variant Server MCM8_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1028-36A>C r.(=) p.(=) g.5948440A>C Copied from the Exome Variant Server MCM8_000097 39/12934 0/8574 39/4360 - - - - - - -
?/? c.1028-11T>C r.(=) p.(=) g.5948465T>C Copied from the Exome Variant Server MCM8_000098 2/12984 2/8590 0/4394 - - - - - - -
?/? c.1084A>G r.(?) p.(Ile362Val) g.5948532A>G Copied from the Exome Variant Server MCM8_000099 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1092T>C r.(=) p.(=) g.5948540T>C Copied from the Exome Variant Server MCM8_000100 66/13006 57/8600 9/4406 - - - - - - -
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