Full data view for gene MSR1

Information The variants shown are described using the NM_002445.3 transcript reference sequence.

110 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.-4-42A>G r.(=) p.(=) g.16035543T>C Copied from the Exome Variant Server MSR1_000110 1/13002 1/8598 0/4404 - - - - - - -
?/? c.-4-25T>C r.(=) p.(=) g.16035526A>G Copied from the Exome Variant Server MSR1_000109 1/13006 1/8600 0/4406 - - - - - - -
?/? c.-4-1G>A r.spl? p.? g.16035502C>T Copied from the Exome Variant Server MSR1_000108 8/13006 7/8600 1/4406 - - - - - - -
?/? c.-4A>G r.(=) p.(=) g.16035501T>C Copied from the Exome Variant Server MSR1_000107 1/13006 1/8600 0/4406 - - - - - - -
?/? c.77G>A r.(?) p.(Arg26His) g.16035421C>T Copied from the Exome Variant Server MSR1_000106 2/13006 2/8600 0/4406 - - - - - - -
?/? c.88G>A r.(?) p.(Ala30Thr) g.16035410C>T Copied from the Exome Variant Server MSR1_000105 3/13006 2/8600 1/4406 - - - - - - -
?/? c.102G>A r.(=) p.(=) g.16035396C>T Copied from the Exome Variant Server MSR1_000104 13/13006 1/8600 12/4406 - - - - - - -
?/? c.103+1G>T r.spl? p.? g.16035394C>A Copied from the Exome Variant Server MSR1_000103 9/13006 0/8600 9/4406 - - - - - - -
?/? c.103+14G>T r.(=) p.(=) g.16035381C>A Copied from the Exome Variant Server MSR1_000102 5/13006 4/8600 1/4406 - - - - - - -
?/? c.103+22G>T r.(=) p.(=) g.16035373C>A Copied from the Exome Variant Server MSR1_000101 2/13006 0/8600 2/4406 - - - - - - -
?/? c.103+32G>A r.(=) p.(=) g.16035363C>T Copied from the Exome Variant Server MSR1_000100 1/13006 1/8600 0/4406 - - - - - - -
?/? c.103+44G>C r.(=) p.(=) g.16035351C>G Copied from the Exome Variant Server MSR1_000099 7/13006 0/8600 7/4406 - - - - - - -
?/? c.104-47G>A r.(=) p.(=) g.16032856C>T Copied from the Exome Variant Server MSR1_000098 7/13006 0/8600 7/4406 - - - - - - -
?/? c.104-23G>A r.(=) p.(=) g.16032832C>T Copied from the Exome Variant Server MSR1_000097 29/13006 0/8600 29/4406 - - - - - - -
?/? c.105T>A r.(?) p.(Asn35Lys) g.16032808A>T Copied from the Exome Variant Server MSR1_000096 8/13006 0/8600 8/4406 - - - - - - -
?/? c.109A>G r.(?) p.(Lys37Glu) g.16032804T>C Copied from the Exome Variant Server MSR1_000095 5/13006 0/8600 5/4406 - - - - - - -
?/? c.115A>G r.(?) p.(Ser39Gly) g.16032798T>C Copied from the Exome Variant Server MSR1_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.122C>A r.(?) p.(Ser41Tyr) g.16032791G>T Copied from the Exome Variant Server MSR1_000093 8/13006 0/8600 8/4406 - - - - - - -
?/? c.129A>G r.(=) p.(=) g.16032784T>C Copied from the Exome Variant Server MSR1_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.160A>G r.(?) p.(Ile54Val) g.16032753T>C Copied from the Exome Variant Server MSR1_000091 8/13006 7/8600 1/4406 - - - - - - -
?/? c.171C>T r.(=) p.(=) g.16032742G>A Copied from the Exome Variant Server MSR1_000090 28/13006 0/8600 28/4406 - - - - - - -
?/? c.186A>G r.(=) p.(=) g.16032727T>C Copied from the Exome Variant Server MSR1_000089 1/13006 0/8600 1/4406 - - - - - - -
?/? c.190C>G r.(?) p.(Leu64Val) g.16032723G>C Copied from the Exome Variant Server MSR1_000088 1/13006 0/8600 1/4406 - - - - - - -
?/? c.198T>C r.(=) p.(=) g.16032715A>G Copied from the Exome Variant Server MSR1_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.199C>G r.(?) p.(Leu67Val) g.16032714G>C Copied from the Exome Variant Server MSR1_000086 1/13006 1/8600 0/4406 - - - - - - -
?/? c.203T>C r.(?) p.(Ile68Thr) g.16032710A>G Copied from the Exome Variant Server MSR1_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.217+5C>T r.spl? p.? g.16032691G>A Copied from the Exome Variant Server MSR1_000084 1/13006 1/8600 0/4406 - - - - - - -
?/? c.217+35C>T r.(=) p.(=) g.16032661G>A Copied from the Exome Variant Server MSR1_000083 3/13006 0/8600 3/4406 - - - - - - -
?/? c.217+36G>A r.(=) p.(=) g.16032660C>T Copied from the Exome Variant Server MSR1_000082 1/13006 1/8600 0/4406 - - - - - - -
?/? c.217+40C>T r.(=) p.(=) g.16032656G>A Copied from the Exome Variant Server MSR1_000081 4/13006 4/8600 0/4406 - - - - - - -
?/? c.217+41G>A r.(=) p.(=) g.16032655C>T Copied from the Exome Variant Server MSR1_000080 1/13006 0/8600 1/4406 - - - - - - -
?/? c.218-4A>G r.spl? p.? g.16026383T>C Copied from the Exome Variant Server MSR1_000079 20/13006 15/8600 5/4406 - - - - - - -
?/? c.279_280del r.(?) p.(Thr94Serfs*9) g.16026317_16026318del Copied from the Exome Variant Server MSR1_000078 3/12518 0/8254 3/4264 - - - - - - -
?/? c.291C>G r.(=) p.(=) g.16026306G>C Copied from the Exome Variant Server MSR1_000077 29/13006 0/8600 29/4406 - - - - - - -
?/? c.338T>C r.(?) p.(Val113Ala) g.16026259A>G Copied from the Exome Variant Server MSR1_000076 29/13006 26/8600 3/4406 - - - - - - -
?/? c.347A>C r.(?) p.(Glu116Ala) g.16026250T>G Copied from the Exome Variant Server MSR1_000074 1/13006 1/8600 0/4406 - - - - - - -
?/? c.354G>A r.(?) p.(Met118Ile) g.16026243C>T Copied from the Exome Variant Server MSR1_000072 8/13006 1/8600 7/4406 - - - - - - -
?/? c.357C>T r.(=) p.(=) g.16026240G>A Copied from the Exome Variant Server MSR1_000070 3/13006 3/8600 0/4406 - - - - - - -
?/? c.394G>A r.(?) p.(Glu132Lys) g.16026203C>T Copied from the Exome Variant Server MSR1_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.406A>T r.(?) p.(Met136Leu) g.16026191T>A Copied from the Exome Variant Server MSR1_000075 2/13006 2/8600 0/4406 - - - - - - -
?/? c.410A>G r.(?) p.(Asp137Gly) g.16026187T>C Copied from the Exome Variant Server MSR1_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.440C>A r.(?) p.(Thr147Lys) g.16026157G>T Copied from the Exome Variant Server MSR1_000071 1/13006 0/8600 1/4406 - - - - - - -
?/? c.462C>T r.(=) p.(=) g.16026135G>A Copied from the Exome Variant Server MSR1_000069 2/13006 0/8600 2/4406 - - - - - - -
?/? c.466C>T r.(?) p.(Leu156Phe) g.16026131G>A Copied from the Exome Variant Server MSR1_000067 1/13006 0/8600 1/4406 - - - - - - -
?/? c.482C>A r.(?) p.(Thr161Asn) g.16026115G>T Copied from the Exome Variant Server MSR1_000066 4/13006 4/8600 0/4406 - - - - - - -
?/? c.520G>T r.(?) p.(Asp174Tyr) g.16026077C>A Copied from the Exome Variant Server MSR1_000065 79/13006 2/8600 77/4406 - - - - - - -
?/? c.541A>G r.(?) p.(Ile181Val) g.16026056T>C Copied from the Exome Variant Server MSR1_000064 9/13006 1/8600 8/4406 - - - - - - -
?/? c.542T>G r.(?) p.(Ile181Arg) g.16026055A>C Copied from the Exome Variant Server MSR1_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.591G>C r.(=) p.(=) g.16026006C>G Copied from the Exome Variant Server MSR1_000062 22/13006 0/8600 22/4406 - - - - - - -
?/? c.604C>G r.(?) p.(Gln202Glu) g.16025993G>C Copied from the Exome Variant Server MSR1_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.618C>G r.(?) p.(Phe206Leu) g.16025979G>C Copied from the Exome Variant Server MSR1_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630G>A r.(=) p.(=) g.16025967C>T Copied from the Exome Variant Server MSR1_000059 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630+3A>G r.spl? p.? g.16025964T>C Copied from the Exome Variant Server MSR1_000058 3/13006 0/8600 3/4406 - - - - - - -
?/? c.630+14G>T r.(=) p.(=) g.16025953C>A Copied from the Exome Variant Server MSR1_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630+25C>G r.(=) p.(=) g.16025942G>C Copied from the Exome Variant Server MSR1_000056 1/13006 0/8600 1/4406 - - - - - - -
?/? c.630+34G>A r.(=) p.(=) g.16025933C>T Copied from the Exome Variant Server MSR1_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.631-50G>C r.(=) p.(=) g.16021810C>G Copied from the Exome Variant Server MSR1_000054 1/12990 1/8590 0/4400 - - - - - - -
?/? c.631-46del r.(=) p.(=) g.16021806del Copied from the Exome Variant Server MSR1_000053 3/12502 3/8244 0/4258 - - - - - - -
?/? c.649G>A r.(?) p.(Glu217Lys) g.16021742C>T Copied from the Exome Variant Server MSR1_000052 1/13002 1/8598 0/4404 - - - - - - -
?/? c.703C>T r.(?) p.(His235Tyr) g.16021688G>A Copied from the Exome Variant Server MSR1_000051 1/13000 1/8596 0/4404 - - - - - - -
?/? c.725G>T r.(?) p.(Gly242Val) g.16021666C>A Copied from the Exome Variant Server MSR1_000050 1/13002 0/8596 1/4406 - - - - - - -
?/? c.754A>G r.(?) p.(Asn252Asp) g.16021637T>C Copied from the Exome Variant Server MSR1_000049 2/13004 0/8598 2/4406 - - - - - - -
?/? c.773A>C r.(?) p.(Asp258Ala) g.16021618T>G Copied from the Exome Variant Server MSR1_000048 1/13004 1/8598 0/4406 - - - - - - -
?/? c.784T>A r.(?) p.(Ser262Thr) g.16021607A>T Copied from the Exome Variant Server MSR1_000047 1/13002 1/8598 0/4404 - - - - - - -
?/? c.791C>T r.(?) p.(Thr264Ile) g.16021600G>A Copied from the Exome Variant Server MSR1_000046 1/12998 0/8594 1/4404 - - - - - - -
?/? c.817+13G>C r.(=) p.(=) g.16021561C>G Copied from the Exome Variant Server MSR1_000045 1/12994 1/8594 0/4400 - - - - - - -
?/? c.817+40A>G r.(=) p.(=) g.16021534T>C Copied from the Exome Variant Server MSR1_000044 2/12866 0/8534 2/4332 - - - - - - -
?/? c.818-57C>A r.(=) p.(=) g.16012710G>T Copied from the Exome Variant Server MSR1_000043 149/4562 137/3178 12/1384 - - - - - - -
?/? c.818-41A>G r.(=) p.(=) g.16012694T>C Copied from the Exome Variant Server MSR1_000042 75/12996 1/8592 74/4404 - - - - - - -
?/? c.818-11T>C r.(=) p.(=) g.16012664A>G Copied from the Exome Variant Server MSR1_000041 1/13002 1/8596 0/4406 - - - - - - -
?/? c.818-5_818-4insT r.spl? p.? g.16012657_16012658insA Copied from the Exome Variant Server MSR1_000040 1/12514 1/8250 0/4264 - - - - - - -
?/? c.823C>G r.(?) p.(Pro275Ala) g.16012648G>C Copied from the Exome Variant Server MSR1_000039 907/13004 524/8598 383/4406 - - - - - - -
?/? c.834G>T r.(=) p.(=) g.16012637C>A Copied from the Exome Variant Server MSR1_000038 8/13006 0/8600 8/4406 - - - - - - -
?/? c.847G>C r.(?) p.(Asp283His) g.16012624C>G Copied from the Exome Variant Server MSR1_000037 8/13006 0/8600 8/4406 - - - - - - -
?/? c.851G>A r.(?) p.(Arg284Gln) g.16012620C>T Copied from the Exome Variant Server MSR1_000036 1/13006 1/8600 0/4406 - - - - - - -
?/? c.856C>A r.(?) p.(Pro286Thr) g.16012615G>T Copied from the Exome Variant Server MSR1_000035 12/13006 0/8600 12/4406 - - - - - - -
?/? c.873T>A r.(=) p.(=) g.16012598A>T Copied from the Exome Variant Server MSR1_000034 2/13006 0/8600 2/4406 - - - - - - -
?/? c.877C>T r.(?) p.(Arg293*) g.16012594G>A Copied from the Exome Variant Server MSR1_000033 96/13006 84/8600 12/4406 - - - - - - -
?/? c.878G>A r.(?) p.(Arg293Gln) g.16012593C>T Copied from the Exome Variant Server MSR1_000032 1/13006 1/8600 0/4406 - - - - - - -
?/? c.881G>A r.(?) p.(Gly294Glu) g.16012590C>T Copied from the Exome Variant Server MSR1_000031 9/13006 7/8600 2/4406 - - - - - - -
?/? c.889G>A r.(?) p.(Gly297Ser) g.16012582C>T Copied from the Exome Variant Server MSR1_000030 1/13006 1/8600 0/4406 - - - - - - -
?/? c.898+21T>G r.(=) p.(=) g.16012552A>C Copied from the Exome Variant Server MSR1_000029 1/13006 0/8600 1/4406 - - - - - - -
?/? c.898+31C>G r.(=) p.(=) g.16012542G>C Copied from the Exome Variant Server MSR1_000028 1/13006 1/8600 0/4406 - - - - - - -
?/? c.898+40T>C r.(=) p.(=) g.16012533A>G Copied from the Exome Variant Server MSR1_000027 1/13006 1/8600 0/4406 - - - - - - -
?/? c.898+43A>G r.(=) p.(=) g.16012530T>C Copied from the Exome Variant Server MSR1_000026 1/13006 1/8600 0/4406 - - - - - - -
?/? c.898+45G>T r.(=) p.(=) g.16012528C>A Copied from the Exome Variant Server MSR1_000024 12/13006 11/8600 1/4406 - - - - - - -
?/? c.898+50A>G r.(=) p.(=) g.16012523T>C Copied from the Exome Variant Server MSR1_000022 7/13002 1/8596 6/4406 - - - - - - -
?/? c.898+52A>G r.(=) p.(=) g.16012521T>C Copied from the Exome Variant Server MSR1_000020 1/10298 1/7162 0/3136 - - - - - - -
?/? c.899-50C>T r.(=) p.(=) g.16007870G>A Copied from the Exome Variant Server MSR1_000018 159/13004 1/8600 158/4404 - - - - - - -
?/? c.919G>T r.(?) p.(Asp307Tyr) g.16007800C>A Copied from the Exome Variant Server MSR1_000025 5/13006 5/8600 0/4406 - - - - - - -
?/? c.932T>C r.(?) p.(Ile311Thr) g.16007787A>G Copied from the Exome Variant Server MSR1_000023 1/13006 0/8600 1/4406 - - - - - - -
?/? c.970G>A r.(?) p.(Gly324Arg) g.16007749C>T Copied from the Exome Variant Server MSR1_000021 1/13002 1/8596 0/4406 - - - - - - -
?/? c.979+18A>G r.(=) p.(=) g.16007722T>C Copied from the Exome Variant Server MSR1_000019 1/12992 1/8588 0/4404 - - - - - - -
?/? c.979+28T>C r.(=) p.(=) g.16007712A>G Copied from the Exome Variant Server MSR1_000017 103/12972 0/8576 103/4396 - - - - - - -
?/? c.979+32A>C r.(=) p.(=) g.16007708T>G Copied from the Exome Variant Server MSR1_000016 1/12964 0/8568 1/4396 - - - - - - -
?/? c.979+49C>T r.(=) p.(=) g.16007691G>A Copied from the Exome Variant Server MSR1_000015 238/12826 210/8500 28/4326 - - - - - - -
?/? c.980-26A>C r.(=) p.(=) g.16001146T>G Copied from the Exome Variant Server MSR1_000014 7/13002 0/8598 7/4404 - - - - - - -
?/? c.980-4C>T r.spl? p.? g.16001124G>A Copied from the Exome Variant Server MSR1_000013 1/13004 1/8598 0/4406 - - - - - - -
?/? c.999C>T r.(=) p.(=) g.16001101G>A Copied from the Exome Variant Server MSR1_000012 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1005A>G r.(=) p.(=) g.16001095T>C Copied from the Exome Variant Server MSR1_000011 1/13006 0/8600 1/4406 - - - - - - -
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