All transcript variants in gene GMPR

Information The variants shown are described using the NM_006877.3 transcript reference sequence.

104 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     
?/? c.24C>G r.(=) p.(=) g.16238948C>G Copied from the Exome Variant Server GMPR_000003 13/12412 0/8214 13/4198
?/? c.87+35del r.(=) p.(=) g.16239046del Copied from the Exome Variant Server GMPR_000006 150/11406 98/7546 52/3860
?/? c.87+35dup r.(=) p.(=) g.16239046dup Copied from the Exome Variant Server GMPR_000005 183/11406 112/7546 71/3860
?/? c.88-45G>A r.(=) p.(=) g.16247028G>A Copied from the Exome Variant Server GMPR_000001 1/13006 1/8600 0/4406
?/? c.88-29C>G r.(=) p.(=) g.16247044C>G Copied from the Exome Variant Server GMPR_000002 1/13006 1/8600 0/4406
?/? c.100C>T r.(?) p.(Arg34Cys) g.16247085C>T Copied from the Exome Variant Server GMPR_000004 5/13006 1/8600 4/4406
?/? c.110C>T r.(?) p.(Thr37Met) g.16247095C>T Copied from the Exome Variant Server GMPR_000007 2/13006 1/8600 1/4406
?/? c.116G>A r.(?) p.(Arg39Gln) g.16247101G>A Copied from the Exome Variant Server GMPR_000008 1/13006 1/8600 0/4406
?/? c.196G>A r.(?) p.(Val66Met) g.16247181G>A Copied from the Exome Variant Server GMPR_000009 6/13006 5/8600 1/4406
?/? c.207+34T>G r.(=) p.(=) g.16247226T>G Copied from the Exome Variant Server GMPR_000010 1/13006 0/8600 1/4406
?/? c.207+41A>T r.(=) p.(=) g.16247233A>T Copied from the Exome Variant Server GMPR_000011 1/13006 0/8600 1/4406
?/? c.207+53del r.(=) p.(=) g.16247245del Copied from the Exome Variant Server GMPR_000012 1/12516 1/8252 0/4264
?/? c.208-47G>C r.(=) p.(=) g.16250468G>C Copied from the Exome Variant Server GMPR_000013 1/13006 0/8600 1/4406
?/? c.258G>A r.(=) p.(=) g.16250565G>A Copied from the Exome Variant Server GMPR_000014 1/13006 1/8600 0/4406
?/? c.266C>T r.(?) p.(Ala89Val) g.16250573C>T Copied from the Exome Variant Server GMPR_000015 2/13006 0/8600 2/4406
?/? c.269C>G r.(?) p.(Thr90Arg) g.16250576C>G Copied from the Exome Variant Server GMPR_000016 3/13006 2/8600 1/4406
?/? c.291+4C>G r.spl? p.? g.16250602C>G Copied from the Exome Variant Server GMPR_000017 13/13006 0/8600 13/4406
?/? c.291+5G>A r.spl? p.? g.16250603G>A Copied from the Exome Variant Server GMPR_000018 3/13006 2/8600 1/4406
?/? c.291+23A>G r.(=) p.(=) g.16250621A>G Copied from the Exome Variant Server GMPR_000019 1/13006 1/8600 0/4406
?/? c.292-49G>A r.(=) p.(=) g.16254744G>A Copied from the Exome Variant Server GMPR_000020 1/13006 1/8600 0/4406
?/? c.292-25G>A r.(=) p.(=) g.16254768G>A Copied from the Exome Variant Server GMPR_000021 14/13006 0/8600 14/4406
?/? c.292-17G>C r.(=) p.(=) g.16254776G>C Copied from the Exome Variant Server GMPR_000022 2/13006 0/8600 2/4406
?/? c.301G>A r.(?) p.(Val101Met) g.16254802G>A Copied from the Exome Variant Server GMPR_000023 1/13006 0/8600 1/4406
?/? c.317G>A r.(?) p.(Gly106Glu) g.16254818G>A Copied from the Exome Variant Server GMPR_000024 1/13006 1/8600 0/4406
?/? c.329T>C r.(?) p.(Leu110Pro) g.16254830T>C Copied from the Exome Variant Server GMPR_000025 1/13006 1/8600 0/4406
?/? c.358G>C r.(?) p.(Val120Leu) g.16254859G>C Copied from the Exome Variant Server GMPR_000026 1/13006 1/8600 0/4406
?/? c.424G>C r.(?) p.(Val142Leu) g.16254925G>C Copied from the Exome Variant Server GMPR_000027 1/13006 1/8600 0/4406
?/? c.437G>A r.(?) p.(Arg146His) g.16254938G>A Copied from the Exome Variant Server GMPR_000028 1/13006 0/8600 1/4406
?/? c.440C>G r.(?) p.(Ala147Gly) g.16254941C>G Copied from the Exome Variant Server GMPR_000029 1/13006 0/8600 1/4406
?/? c.454C>A r.(?) p.(His152Asn) g.16254955C>A Copied from the Exome Variant Server GMPR_000030 1/13006 1/8600 0/4406
?/? c.460A>G r.(?) p.(Ile154Val) g.16254961A>G Copied from the Exome Variant Server GMPR_000031 3/13006 0/8600 3/4406
?/? c.465+8C>T r.(=) p.(=) g.16254974C>T Copied from the Exome Variant Server GMPR_000032 1/13006 1/8600 0/4406
?/? c.465+9G>A r.(=) p.(=) g.16254975G>A Copied from the Exome Variant Server GMPR_000033 1/13006 1/8600 0/4406
?/? c.465+22G>A r.(=) p.(=) g.16254988G>A Copied from the Exome Variant Server GMPR_000034 1/13006 0/8600 1/4406
?/? c.465+24T>C r.(=) p.(=) g.16254990T>C Copied from the Exome Variant Server GMPR_000035 64/13006 2/8600 62/4406
?/? c.466-46C>T r.(=) p.(=) g.16274600C>T Copied from the Exome Variant Server GMPR_000036 108/13006 99/8600 9/4406
?/? c.466-43C>T r.(=) p.(=) g.16274603C>T Copied from the Exome Variant Server GMPR_000037 1/13006 1/8600 0/4406
?/? c.466-39A>C r.(=) p.(=) g.16274607A>C Copied from the Exome Variant Server GMPR_000038 1/13006 1/8600 0/4406
?/? c.466-20C>G r.(=) p.(=) g.16274626C>G Copied from the Exome Variant Server GMPR_000039 1075/13006 794/8600 281/4406
?/? c.474C>T r.(=) p.(=) g.16274654C>T Copied from the Exome Variant Server GMPR_000040 116/13006 1/8600 115/4406
?/? c.480G>A r.(=) p.(=) g.16274660G>A Copied from the Exome Variant Server GMPR_000041 1/13006 0/8600 1/4406
?/? c.514G>A r.(?) p.(Gly172Arg) g.16274694G>A Copied from the Exome Variant Server GMPR_000042 1/13006 0/8600 1/4406
?/? c.516A>G r.(=) p.(=) g.16274696A>G Copied from the Exome Variant Server GMPR_000043 1/13006 0/8600 1/4406
?/? c.547+1G>A r.spl? p.? g.16274728G>A Copied from the Exome Variant Server GMPR_000044 1/13006 0/8600 1/4406
?/? c.547+12T>G r.(=) p.(=) g.16274739T>G Copied from the Exome Variant Server GMPR_000045 115/13006 101/8600 14/4406
?/? c.547+30C>T r.(=) p.(=) g.16274757C>T Copied from the Exome Variant Server GMPR_000046 1/13006 0/8600 1/4406
?/? c.547+33G>T r.(=) p.(=) g.16274760G>T Copied from the Exome Variant Server GMPR_000047 1/13006 1/8600 0/4406
?/? c.547+37G>A r.(=) p.(=) g.16274764G>A Copied from the Exome Variant Server GMPR_000048 4/13006 0/8600 4/4406
?/? c.547+52C>A r.(=) p.(=) g.16274779C>A Copied from the Exome Variant Server GMPR_000050 58/7272 52/4618 6/2654
?/? c.548-43A>G r.(=) p.(=) g.16278972A>G Copied from the Exome Variant Server GMPR_000052 125/13006 1/8600 124/4406
?/? c.578G>A r.(?) p.(Gly193Glu) g.16279045G>A Copied from the Exome Variant Server GMPR_000054 1/13006 1/8600 0/4406
?/? c.584G>A r.(?) p.(Gly195Glu) g.16279051G>A Copied from the Exome Variant Server GMPR_000056 1/13006 1/8600 0/4406
?/? c.618C>T r.(=) p.(=) g.16279085C>T Copied from the Exome Variant Server GMPR_000058 2/13006 2/8600 0/4406
?/? c.630T>C r.(=) p.(=) g.16279097T>C Copied from the Exome Variant Server GMPR_000049 911/13006 154/8600 757/4406
?/? c.654+9del r.(=) p.(=) g.16279130del Copied from the Exome Variant Server GMPR_000051 1/12518 1/8254 0/4264
?/? c.654+21G>T r.(=) p.(=) g.16279142G>T Copied from the Exome Variant Server GMPR_000053 1/13006 1/8600 0/4406
?/? c.655-48del r.(=) p.(=) g.16285976del Copied from the Exome Variant Server GMPR_000055 1/12518 1/8254 0/4264
?/? c.685G>A r.(?) p.(Ala229Thr) g.16286054G>A Copied from the Exome Variant Server GMPR_000057 1/13006 0/8600 1/4406
?/? c.692C>A r.(?) p.(Ala231Asp) g.16286061C>A Copied from the Exome Variant Server GMPR_000059 16/13006 15/8600 1/4406
?/? c.697+28_697+29insGGAA r.(=) p.(=) g.16286094_16286095insGGAA Copied from the Exome Variant Server GMPR_000060 8/12516 8/8252 0/4264
?/? c.698-52C>T r.(=) p.(=) g.16290641C>T Copied from the Exome Variant Server GMPR_000061 14/5734 14/3982 0/1752
?/? c.698-33_698-32insT r.(=) p.(=) g.16290660_16290661insT Copied from the Exome Variant Server GMPR_000062 1/12518 1/8254 0/4264
?/? c.698-20T>C r.(=) p.(=) g.16290673T>C Copied from the Exome Variant Server GMPR_000063 1/13006 1/8600 0/4406
?/? c.698-12G>A r.(=) p.(=) g.16290681G>A Copied from the Exome Variant Server GMPR_000064 7/13006 0/8600 7/4406
?/? c.698-11T>C r.(=) p.(=) g.16290682T>C Copied from the Exome Variant Server GMPR_000065 2/13006 0/8600 2/4406
?/? c.698G>C r.(?) p.(Gly233Ala) g.16290693G>C Copied from the Exome Variant Server GMPR_000066 4/13006 0/8600 4/4406
?/? c.701C>T r.(?) p.(Ala234Val) g.16290696C>T Copied from the Exome Variant Server GMPR_000067 2/13006 2/8600 0/4406
?/? c.704G>A r.(?) p.(Gly235Glu) g.16290699G>A Copied from the Exome Variant Server GMPR_000068 1/13006 0/8600 1/4406
?/? c.738G>A r.(=) p.(=) g.16290733G>A Copied from the Exome Variant Server GMPR_000069 1/13006 0/8600 1/4406
?/? c.747G>A r.(=) p.(=) g.16290742G>A Copied from the Exome Variant Server GMPR_000070 37/13006 0/8600 37/4406
?/? c.766T>A r.(?) p.(Phe256Ile) g.16290761T>A Copied from the Exome Variant Server GMPR_000071 6989/13006 3366/8600 3623/4406
?/? c.781C>T r.(?) p.(Arg261Trp) g.16290776C>T Copied from the Exome Variant Server GMPR_000072 1/13006 1/8600 0/4406
?/? c.798C>A r.(?) p.(Phe266Leu) g.16290793C>A Copied from the Exome Variant Server GMPR_000073 2/13006 0/8600 2/4406
?/? c.823A>G r.(?) p.(Met275Val) g.16290818A>G Copied from the Exome Variant Server GMPR_000074 1/13006 0/8600 1/4406
?/? c.824T>G r.(?) p.(Met275Arg) g.16290819T>G Copied from the Exome Variant Server GMPR_000075 1/13006 0/8600 1/4406
?/? c.835G>A r.(?) p.(Ala279Thr) g.16290830G>A Copied from the Exome Variant Server GMPR_000076 11/13006 0/8600 11/4406
?/? c.842G>T r.(?) p.(Gly281Val) g.16290837G>T Copied from the Exome Variant Server GMPR_000077 1/13006 1/8600 0/4406
?/? c.853_854insAC r.(?) p.(Arg286Thrfs*28) g.16290848_16290849insAC Copied from the Exome Variant Server GMPR_000078 35/12518 25/8254 10/4264
?/? c.857+6G>A r.(=) p.(=) g.16290858G>A Copied from the Exome Variant Server GMPR_000079 1/13006 1/8600 0/4406
?/? c.857+10T>C r.(=) p.(=) g.16290862T>C Copied from the Exome Variant Server GMPR_000080 3692/13006 1821/8600 1871/4406
?/? c.857+17G>A r.(=) p.(=) g.16290869G>A Copied from the Exome Variant Server GMPR_000081 1/13006 0/8600 1/4406
?/? c.857+21C>T r.(=) p.(=) g.16290873C>T Copied from the Exome Variant Server GMPR_000082 4/13006 0/8600 4/4406
?/? c.857+25C>T r.(=) p.(=) g.16290877C>T Copied from the Exome Variant Server GMPR_000083 9/13006 9/8600 0/4406
?/? c.857+29C>T r.(=) p.(=) g.16290881C>T Copied from the Exome Variant Server GMPR_000084 1/13006 1/8600 0/4406
?/? c.857+30G>A r.(=) p.(=) g.16290882G>A Copied from the Exome Variant Server GMPR_000085 50/13006 41/8600 9/4406
?/? c.857+31A>T r.(=) p.(=) g.16290883A>T Copied from the Exome Variant Server GMPR_000086 1/13006 1/8600 0/4406
?/? c.857+35C>T r.(=) p.(=) g.16290887C>T Copied from the Exome Variant Server GMPR_000087 39/13006 0/8600 39/4406
?/? c.857+42T>C r.(=) p.(=) g.16290894T>C Copied from the Exome Variant Server GMPR_000088 7/13004 7/8600 0/4404
?/? c.858-44G>A r.(=) p.(=) g.16295193G>A Copied from the Exome Variant Server GMPR_000089 18/13006 0/8600 18/4406
?/? c.858-39G>A r.(=) p.(=) g.16295198G>A Copied from the Exome Variant Server GMPR_000090 1/13006 1/8600 0/4406
?/? c.858-9G>A r.(=) p.(=) g.16295228G>A Copied from the Exome Variant Server GMPR_000091 2/13006 1/8600 1/4406
?/? c.883G>T r.(?) p.(Val295Phe) g.16295262G>T Copied from the Exome Variant Server GMPR_000092 1/13006 1/8600 0/4406
?/? c.945G>A r.(=) p.(=) g.16295324G>A Copied from the Exome Variant Server GMPR_000093 2/13006 2/8600 0/4406
?/? c.954C>T r.(=) p.(=) g.16295333C>T Copied from the Exome Variant Server GMPR_000094 30/13006 1/8600 29/4406
?/? c.963C>T r.(=) p.(=) g.16295342C>T Copied from the Exome Variant Server GMPR_000095 1/13006 1/8600 0/4406
?/? c.1011C>G r.(=) p.(=) g.16295390C>G Copied from the Exome Variant Server GMPR_000096 1/13006 0/8600 1/4406
?/? c.1022A>G r.(?) p.(Asn341Ser) g.16295401A>G Copied from the Exome Variant Server GMPR_000097 11/13006 0/8600 11/4406
?/? c.1038_*1insC r.(=) p.(=) g.16295417_16295418insC Copied from the Exome Variant Server GMPR_000098 104/12518 2/8254 102/4264
?/? c.*13A>C r.(=) p.(=) g.16295430A>C Copied from the Exome Variant Server GMPR_000100 1/13006 0/8600 1/4406
?/? c.*16A>G r.(=) p.(=) g.16295433A>G Copied from the Exome Variant Server GMPR_000101 2/13006 0/8600 2/4406
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