All transcript variants in gene MAP7

Information The variants shown are described using the NM_003980.4 transcript reference sequence.

170 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.-1C>T r.(=) p.(=) g.136871547G>A Copied from the Exome Variant Server MAP7_000170 1/12746 1/8446 0/4300
?/? c.5C>A r.(?) p.(Ala2Glu) g.136871542G>T Copied from the Exome Variant Server MAP7_000169 1/12730 1/8438 0/4292
?/? c.6G>A r.(=) p.(=) g.136871541C>T Copied from the Exome Variant Server MAP7_000168 2/12728 2/8442 0/4286
?/? c.68-43A>G r.(=) p.(=) g.136742980T>C Copied from the Exome Variant Server MAP7_000167 1/13002 1/8600 0/4402
?/? c.68-33A>G r.(=) p.(=) g.136742970T>C Copied from the Exome Variant Server MAP7_000166 114/13006 0/8600 114/4406
?/? c.112C>T r.(?) p.(Arg38Cys) g.136742893G>A Copied from the Exome Variant Server MAP7_000165 1/13006 1/8600 0/4406
?/? c.126A>G r.(=) p.(=) g.136742879T>C Copied from the Exome Variant Server MAP7_000164 1/13006 1/8600 0/4406
?/? c.129T>G r.(?) p.(Ile43Met) g.136742876A>C Copied from the Exome Variant Server MAP7_000163 2/13006 2/8600 0/4406
?/? c.166+38T>A r.(=) p.(=) g.136742801A>T Copied from the Exome Variant Server MAP7_000162 6/13006 0/8600 6/4406
?/? c.166+45T>A r.(=) p.(=) g.136742794A>T Copied from the Exome Variant Server MAP7_000161 2/13006 2/8600 0/4406
?/? c.167-50T>C r.(=) p.(=) g.136732885A>G Copied from the Exome Variant Server MAP7_000160 251/12428 4/8218 247/4210
?/? c.167-43del r.(=) p.(=) g.136732878del Copied from the Exome Variant Server MAP7_000159 327/11742 218/7750 109/3992
?/? c.167-43dup r.(=) p.(=) g.136732878dup Copied from the Exome Variant Server MAP7_000158 207/11742 136/7750 71/3992
?/? c.167-8G>A r.(=) p.(=) g.136732843C>T Copied from the Exome Variant Server MAP7_000157 9/12950 9/8564 0/4386
?/? c.169C>T r.(?) p.(Pro57Ser) g.136732833G>A Copied from the Exome Variant Server MAP7_000156 1/12966 1/8572 0/4394
?/? c.173C>T r.(?) p.(Pro58Leu) g.136732829G>A Copied from the Exome Variant Server MAP7_000155 1/12974 1/8576 0/4398
?/? c.176C>T r.(?) p.(Pro59Leu) g.136732826G>A Copied from the Exome Variant Server MAP7_000154 1/12976 0/8578 1/4398
?/? c.203G>A r.(?) p.(Arg68Gln) g.136732799C>T Copied from the Exome Variant Server MAP7_000153 1/12966 1/8572 0/4394
?/? c.211C>T r.(?) p.(Arg71Trp) g.136732791G>A Copied from the Exome Variant Server MAP7_000152 3/12930 3/8548 0/4382
?/? c.214G>A r.(?) p.(Glu72Lys) g.136732788C>T Copied from the Exome Variant Server MAP7_000151 1/12930 0/8546 1/4384
?/? c.230G>A r.(?) p.(Arg77Gln) g.136732772C>T Copied from the Exome Variant Server MAP7_000150 5/12956 4/8572 1/4384
?/? c.242T>A r.(?) p.(Leu81Gln) g.136732760A>T Copied from the Exome Variant Server MAP7_000149 1/12946 1/8564 0/4382
?/? c.244+7C>G r.(=) p.(=) g.136732751G>C Copied from the Exome Variant Server MAP7_000148 1/12942 1/8558 0/4384
?/? c.244+14C>T r.(=) p.(=) g.136732744G>A Copied from the Exome Variant Server MAP7_000146 1/12942 1/8558 0/4384
?/? c.244+21A>G r.(=) p.(=) g.136732737T>C Copied from the Exome Variant Server MAP7_000144 1/12928 1/8544 0/4384
?/? c.244+56G>A r.(=) p.(=) g.136732702C>T Copied from the Exome Variant Server MAP7_000142 2/4566 1/3182 1/1384
?/? c.245-13del r.(=) p.(=) g.136710668del Copied from the Exome Variant Server MAP7_000140 153/12518 24/8254 129/4264
?/? c.245-5C>T r.spl? p.? g.136710660G>A Copied from the Exome Variant Server MAP7_000138 4/13006 0/8600 4/4406
?/? c.256A>G r.(?) p.(Ile86Val) g.136710644T>C Copied from the Exome Variant Server MAP7_000136 1/13006 1/8600 0/4406
?/? c.281G>A r.(?) p.(Arg94Gln) g.136710619C>T Copied from the Exome Variant Server MAP7_000147 2/13006 2/8600 0/4406
?/? c.288G>A r.(=) p.(=) g.136710612C>T Copied from the Exome Variant Server MAP7_000145 3/13006 3/8600 0/4406
?/? c.294C>T r.(=) p.(=) g.136710606G>A Copied from the Exome Variant Server MAP7_000143 2/13006 0/8600 2/4406
?/? c.298G>A r.(?) p.(Glu100Lys) g.136710602C>T Copied from the Exome Variant Server MAP7_000141 1/13006 0/8600 1/4406
?/? c.310G>A r.(?) p.(Glu104Lys) g.136710590C>T Copied from the Exome Variant Server MAP7_000139 1/13006 1/8600 0/4406
?/? c.318G>A r.(=) p.(=) g.136710582C>T Copied from the Exome Variant Server MAP7_000137 80/13006 75/8600 5/4406
?/? c.333G>A r.(=) p.(=) g.136710567C>T Copied from the Exome Variant Server MAP7_000135 1/13006 1/8600 0/4406
?/? c.359G>C r.(?) p.(Arg120Thr) g.136710541C>G Copied from the Exome Variant Server MAP7_000134 1/13006 1/8600 0/4406
?/? c.383G>A r.(?) p.(Arg128Gln) g.136710517C>T Copied from the Exome Variant Server MAP7_000133 8/13006 1/8600 7/4406
?/? c.399G>A r.(=) p.(=) g.136710501C>T Copied from the Exome Variant Server MAP7_000132 1/13006 1/8600 0/4406
?/? c.408+8G>A r.(=) p.(=) g.136710484C>T Copied from the Exome Variant Server MAP7_000131 3/13006 3/8600 0/4406
?/? c.408+14C>T r.(=) p.(=) g.136710478G>A Copied from the Exome Variant Server MAP7_000130 592/13006 82/8600 510/4406
?/? c.409-13T>C r.(=) p.(=) g.136709661A>G Copied from the Exome Variant Server MAP7_000129 1/13006 0/8600 1/4406
?/? c.412C>T r.(?) p.(Arg138Cys) g.136709645G>A Copied from the Exome Variant Server MAP7_000128 1/13006 1/8600 0/4406
?/? c.417C>T r.(=) p.(=) g.136709640G>A Copied from the Exome Variant Server MAP7_000127 2/13006 1/8600 1/4406
?/? c.418G>A r.(?) p.(Glu140Lys) g.136709639C>T Copied from the Exome Variant Server MAP7_000126 1/13006 1/8600 0/4406
?/? c.430C>T r.(?) p.(Arg144Trp) g.136709627G>A Copied from the Exome Variant Server MAP7_000125 2/13006 0/8600 2/4406
?/? c.439A>G r.(?) p.(Met147Val) g.136709618T>C Copied from the Exome Variant Server MAP7_000124 1/13006 1/8600 0/4406
?/? c.459A>G r.(=) p.(=) g.136709598T>C Copied from the Exome Variant Server MAP7_000123 1/13006 1/8600 0/4406
?/? c.464A>G r.(?) p.(Gln155Arg) g.136709593T>C Copied from the Exome Variant Server MAP7_000122 1/13006 1/8600 0/4406
?/? c.469C>G r.(?) p.(His157Asp) g.136709588G>C Copied from the Exome Variant Server MAP7_000121 2/13006 2/8600 0/4406
?/? c.476G>A r.(?) p.(Arg159His) g.136709581C>T Copied from the Exome Variant Server MAP7_000120 3/13006 3/8600 0/4406
?/? c.527-38T>C r.(=) p.(=) g.136704957A>G Copied from the Exome Variant Server MAP7_000119 1/13006 0/8600 1/4406
?/? c.563C>T r.(?) p.(Ser188Leu) g.136704883G>A Copied from the Exome Variant Server MAP7_000118 1/13006 1/8600 0/4406
?/? c.577C>G r.(?) p.(Pro193Ala) g.136704869G>C Copied from the Exome Variant Server MAP7_000117 1/13006 0/8600 1/4406
?/? c.580G>A r.(?) p.(Val194Ile) g.136704866C>T Copied from the Exome Variant Server MAP7_000116 1/13006 1/8600 0/4406
?/? c.592C>T r.(?) p.(Arg198Trp) g.136704854G>A Copied from the Exome Variant Server MAP7_000115 1/13006 0/8600 1/4406
?/? c.599C>G r.(?) p.(Ser200Cys) g.136704847G>C Copied from the Exome Variant Server MAP7_000114 4/13006 4/8600 0/4406
?/? c.637+23_637+25del r.(=) p.(=) g.136704784_136704786del Copied from the Exome Variant Server MAP7_000113 36/12518 25/8254 11/4264
?/? c.637+26G>C r.(=) p.(=) g.136704783C>G Copied from the Exome Variant Server MAP7_000112 1/13006 1/8600 0/4406
?/? c.637+35A>T r.(=) p.(=) g.136704774T>A Copied from the Exome Variant Server MAP7_000111 4/13006 0/8600 4/4406
?/? c.638-33C>G r.(=) p.(=) g.136699039G>C Copied from the Exome Variant Server MAP7_000110 2/13006 0/8600 2/4406
?/? c.638-8A>G r.(=) p.(=) g.136699014T>C Copied from the Exome Variant Server MAP7_000109 6/13006 6/8600 0/4406
?/? c.641G>A r.(?) p.(Arg214His) g.136699003C>T Copied from the Exome Variant Server MAP7_000108 3/13006 3/8600 0/4406
?/? c.692C>T r.(?) p.(Thr231Met) g.136698952G>A Copied from the Exome Variant Server MAP7_000107 2/13006 1/8600 1/4406
?/? c.705G>A r.(=) p.(=) g.136698939C>T Copied from the Exome Variant Server MAP7_000106 2/13006 2/8600 0/4406
?/? c.712G>A r.(?) p.(Ala238Thr) g.136698932C>T Copied from the Exome Variant Server MAP7_000105 1/13006 0/8600 1/4406
?/? c.752-36C>T r.(=) p.(=) g.136693799G>A Copied from the Exome Variant Server MAP7_000104 1/13006 1/8600 0/4406
?/? c.752-7C>T r.(=) p.(=) g.136693770G>A Copied from the Exome Variant Server MAP7_000103 4/13006 4/8600 0/4406
?/? c.770T>A r.(?) p.(Ile257Asn) g.136693745A>T Copied from the Exome Variant Server MAP7_000102 7/13006 7/8600 0/4406
?/? c.832C>G r.(?) p.(Pro278Ala) g.136693683G>C Copied from the Exome Variant Server MAP7_000101 1/13006 0/8600 1/4406
?/? c.835C>A r.(?) p.(Pro279Thr) g.136693680G>T Copied from the Exome Variant Server MAP7_000100 20/13006 0/8600 20/4406
?/? c.850C>T r.(?) p.(Arg284Cys) g.136693665G>A Copied from the Exome Variant Server MAP7_000099 1/13006 0/8600 1/4406
?/? c.851G>A r.(?) p.(Arg284His) g.136693664C>T Copied from the Exome Variant Server MAP7_000098 1/13006 1/8600 0/4406
?/? c.876G>A r.(=) p.(=) g.136693639C>T Copied from the Exome Variant Server MAP7_000097 1/13006 0/8600 1/4406
?/? c.877-41G>A r.(=) p.(=) g.136687618C>T Copied from the Exome Variant Server MAP7_000096 1/13006 1/8600 0/4406
?/? c.877-31A>G r.(=) p.(=) g.136687608T>C Copied from the Exome Variant Server MAP7_000095 5/13006 0/8600 5/4406
?/? c.912C>T r.(=) p.(=) g.136687542G>A Copied from the Exome Variant Server MAP7_000094 1/13006 1/8600 0/4406
?/? c.932G>A r.(?) p.(Arg311Gln) g.136687522C>T Copied from the Exome Variant Server MAP7_000093 3/13006 1/8600 2/4406
?/? c.952A>G r.(?) p.(Asn318Asp) g.136687502T>C Copied from the Exome Variant Server MAP7_000092 1/13006 1/8600 0/4406
?/? c.976C>T r.(?) p.(Arg326Cys) g.136687478G>A Copied from the Exome Variant Server MAP7_000091 8/13006 7/8600 1/4406
?/? c.980C>T r.(?) p.(Ser327Phe) g.136687474G>A Copied from the Exome Variant Server MAP7_000090 1/13006 1/8600 0/4406
?/? c.983G>A r.(?) p.(Arg328Gln) g.136687471C>T Copied from the Exome Variant Server MAP7_000089 142/13006 22/8600 120/4406
?/? c.989+22G>C r.(=) p.(=) g.136687443C>G Copied from the Exome Variant Server MAP7_000088 5/13006 0/8600 5/4406
?/? c.990-27T>C r.(=) p.(=) g.136687183A>G Copied from the Exome Variant Server MAP7_000087 1/13006 0/8600 1/4406
?/? c.996G>A r.(=) p.(=) g.136687150C>T Copied from the Exome Variant Server MAP7_000086 11/13006 0/8600 11/4406
?/? c.1002G>A r.(=) p.(=) g.136687144C>T Copied from the Exome Variant Server MAP7_000085 1/13006 0/8600 1/4406
?/? c.1022G>A r.(?) p.(Gly341Asp) g.136687124C>T Copied from the Exome Variant Server MAP7_000084 1/13006 0/8600 1/4406
?/? c.1035G>A r.(=) p.(=) g.136687111C>T Copied from the Exome Variant Server MAP7_000083 6/13006 0/8600 6/4406
?/? c.1053C>T r.(=) p.(=) g.136687093G>A Copied from the Exome Variant Server MAP7_000082 10/13006 0/8600 10/4406
?/? c.1054G>A r.(?) p.(Gly352Ser) g.136687092C>T Copied from the Exome Variant Server MAP7_000081 1/13006 0/8600 1/4406
?/? c.1069G>A r.(?) p.(Ala357Thr) g.136687077C>T Copied from the Exome Variant Server MAP7_000080 1/13006 1/8600 0/4406
?/? c.1071T>C r.(=) p.(=) g.136687075A>G Copied from the Exome Variant Server MAP7_000079 1/13006 1/8600 0/4406
?/? c.1073C>T r.(?) p.(Pro358Leu) g.136687073G>A Copied from the Exome Variant Server MAP7_000078 1/13006 0/8600 1/4406
?/? c.1081G>A r.(?) p.(Val361Ile) g.136687065C>T Copied from the Exome Variant Server MAP7_000077 337/13006 312/8600 25/4406
?/? c.1085G>A r.(?) p.(Arg362Gln) g.136687061C>T Copied from the Exome Variant Server MAP7_000076 3/13006 3/8600 0/4406
?/? c.1110C>T r.(=) p.(=) g.136687036G>A Copied from the Exome Variant Server MAP7_000075 1/13006 1/8600 0/4406
?/? c.1114G>A r.(?) p.(Val372Ile) g.136687032C>T Copied from the Exome Variant Server MAP7_000074 1/13006 0/8600 1/4406
?/? c.1130A>C r.(?) p.(Lys377Thr) g.136687016T>G Copied from the Exome Variant Server MAP7_000073 1/13006 1/8600 0/4406
?/? c.1162G>C r.(?) p.(Glu388Gln) g.136686984C>G Copied from the Exome Variant Server MAP7_000072 1/13006 1/8600 0/4406
?/? c.1243C>T r.(?) p.(Arg415Trp) g.136686903G>A Copied from the Exome Variant Server MAP7_000071 1/13006 1/8600 0/4406
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