Full data view for gene NUMB

Information The variants shown are described using the NM_001005743.1 transcript reference sequence.

125 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.-16+709A>T r.(=) p.(=) g.73832896T>A Copied from the Exome Variant Server NUMB_000125 247/4566 2/3182 245/1384 - - - - - - -
?/? c.-16+766C>T r.(=) p.(=) g.73832839G>A Copied from the Exome Variant Server NUMB_000124 57/4566 3/3182 54/1384 - - - - - - -
?/? c.-16+786C>T r.(=) p.(=) g.73832819G>A Copied from the Exome Variant Server NUMB_000123 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-16+805A>G r.(=) p.(=) g.73832800T>C Copied from the Exome Variant Server NUMB_000122 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-16+1135_-16+1140del r.(=) p.(=) g.73832465_73832470del Copied from the Exome Variant Server NUMB_000121 7/5444 0/3698 7/1746 - - - - - - -
?/? c.-16+1199A>G r.(=) p.(=) g.73832406T>C Copied from the Exome Variant Server NUMB_000120 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-16+1213A>G r.(=) p.(=) g.73832392T>C Copied from the Exome Variant Server NUMB_000119 1/4566 0/3182 1/1384 - - - - - - -
?/? c.-16+1286_-16+1287insT r.(=) p.(=) g.73832318_73832319insA Copied from the Exome Variant Server NUMB_000118 1349/5104 711/3520 638/1584 - - - - - - -
?/? c.-16+1954C>T r.(=) p.(=) g.73831651G>A Copied from the Exome Variant Server NUMB_000117 2/4566 2/3182 0/1384 - - - - - - -
?/? c.-16+4508_-16+4509insTCT r.(=) p.(=) g.73829096_73829097insAGA Copied from the Exome Variant Server NUMB_000116 3502/6566 2079/4412 1423/2154 - - - - - - -
?/? c.-16+4640del r.(=) p.(=) g.73828965del Copied from the Exome Variant Server NUMB_000115 79/5938 56/3980 23/1958 - - - - - - -
?/? c.-16+4640dup r.(=) p.(=) g.73828965dup Copied from the Exome Variant Server NUMB_000113 93/5938 57/3980 36/1958 - - - - - - -
?/? c.-15-4108del r.(=) p.(=) g.73826582del Copied from the Exome Variant Server NUMB_000114 225/6312 2/4250 223/2062 - - - - - - -
?/? c.-15-4107del r.(=) p.(=) g.73826581del Copied from the Exome Variant Server NUMB_000112 223/6454 10/4324 213/2130 - - - - - - -
?/? c.-15-4013del r.(=) p.(=) g.73826487del Copied from the Exome Variant Server NUMB_000111 2/6806 2/4560 0/2246 - - - - - - -
?/? c.-15-3988_-15-3987insATTT r.(=) p.(=) g.73826461_73826462insAAAT Copied from the Exome Variant Server NUMB_000110 5/6822 0/4578 5/2244 - - - - - - -
?/? c.-15-3966del r.(=) p.(=) g.73826440del Copied from the Exome Variant Server NUMB_000109 3/7300 3/4874 0/2426 - - - - - - -
?/? c.-15-2777A>G r.(=) p.(=) g.73825251T>C Copied from the Exome Variant Server NUMB_000108 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-15-2767G>A r.(=) p.(=) g.73825241C>T Copied from the Exome Variant Server NUMB_000107 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-15-2723A>G r.(=) p.(=) g.73825197T>C Copied from the Exome Variant Server NUMB_000106 1/4566 1/3182 0/1384 - - - - - - -
?/? c.-15-2314C>G r.(=) p.(=) g.73824788G>C Copied from the Exome Variant Server NUMB_000105 15/4566 0/3182 15/1384 - - - - - - -
?/? c.-15-2231G>A r.(=) p.(=) g.73824705C>T Copied from the Exome Variant Server NUMB_000104 3582/4566 2314/3182 1268/1384 - - - - - - -
?/? c.-15-2210T>C r.(=) p.(=) g.73824684A>G Copied from the Exome Variant Server NUMB_000103 15/4566 0/3182 15/1384 - - - - - - -
?/? c.-15-2123_-15-2122insT r.(=) p.(=) g.73824596_73824597insA Copied from the Exome Variant Server NUMB_000102 916/5434 839/3668 77/1766 - - - - - - -
?/? c.-15-2117_-15-2116insG r.(=) p.(=) g.73824590_73824591insC Copied from the Exome Variant Server NUMB_000101 2274/5276 1643/3568 631/1708 - - - - - - -
?/? c.-15-2117_-15-2116insGG r.(=) p.(=) g.73824590_73824591insCC Copied from the Exome Variant Server NUMB_000100 32/5276 13/3568 19/1708 - - - - - - -
?/? c.-15-14del r.(=) p.(=) g.73822488del Copied from the Exome Variant Server NUMB_000099 21/12514 7/8252 14/4262 - - - - - - -
?/? c.-15-13C>T r.(=) p.(=) g.73822487G>A Copied from the Exome Variant Server NUMB_000098 30/13004 0/8600 30/4404 - - - - - - -
?/? c.57C>T r.(=) p.(=) g.73822403G>A Copied from the Exome Variant Server NUMB_000097 2/13006 2/8600 0/4406 - - - - - - -
?/? c.102C>T r.(=) p.(=) g.73822358G>A Copied from the Exome Variant Server NUMB_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.126+3A>C r.spl? p.? g.73822331T>G Copied from the Exome Variant Server NUMB_000095 13/13006 0/8600 13/4406 - - - - - - -
?/? c.126+29A>G r.(=) p.(=) g.73822305T>C Copied from the Exome Variant Server NUMB_000094 32/13006 30/8600 2/4406 - - - - - - -
?/? c.126+43T>G r.(=) p.(=) g.73822291A>C Copied from the Exome Variant Server NUMB_000093 2/13006 2/8600 0/4406 - - - - - - -
?/? c.127-29A>G r.(=) p.(=) g.73789941T>C Copied from the Exome Variant Server NUMB_000092 1/13006 1/8600 0/4406 - - - - - - -
?/? c.127-27A>G r.(=) p.(=) g.73789939T>C Copied from the Exome Variant Server NUMB_000091 1/13006 1/8600 0/4406 - - - - - - -
?/? c.127-22T>C r.(=) p.(=) g.73789934A>G Copied from the Exome Variant Server NUMB_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.127-17T>C r.(=) p.(=) g.73789929A>G Copied from the Exome Variant Server NUMB_000089 20/13006 0/8600 20/4406 - - - - - - -
?/? c.201+34A>G r.(=) p.(=) g.73789804T>C Copied from the Exome Variant Server NUMB_000088 884/13006 63/8600 821/4406 - - - - - - -
?/? c.201+36G>A r.(=) p.(=) g.73789802C>T Copied from the Exome Variant Server NUMB_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.202-52G>A r.(=) p.(=) g.73783182C>T Copied from the Exome Variant Server NUMB_000086 2/7272 2/4618 0/2654 - - - - - - -
?/? c.202-24C>T r.(=) p.(=) g.73783154G>A Copied from the Exome Variant Server NUMB_000085 2/13006 2/8600 0/4406 - - - - - - -
?/? c.234+56G>A r.(=) p.(=) g.73783042C>T Copied from the Exome Variant Server NUMB_000084 1/4566 1/3182 0/1384 - - - - - - -
?/? c.235-58A>T r.(=) p.(=) g.73764051T>A Copied from the Exome Variant Server NUMB_000083 5/4566 5/3182 0/1384 - - - - - - -
?/? c.235-21_235-20insC r.(=) p.(=) g.73764013_73764014insG Copied from the Exome Variant Server NUMB_000081 363/12514 156/8252 207/4262 - - - - - - -
?/? c.235-21_235-20insCCTT r.(=) p.(=) g.73764013_73764014insAAGG Copied from the Exome Variant Server NUMB_000082 92/12514 30/8252 62/4262 - - - - - - -
?/? c.235-20dup r.(=) p.(=) g.73764013dup Copied from the Exome Variant Server NUMB_000080 34/12514 17/8252 17/4262 - - - - - - -
?/? c.245A>G r.(?) p.(Lys82Arg) g.73763983T>C Copied from the Exome Variant Server NUMB_000079 1/13006 0/8600 1/4406 - - - - - - -
?/? c.264G>A r.(=) p.(=) g.73763964C>T Copied from the Exome Variant Server NUMB_000078 1/13006 1/8600 0/4406 - - - - - - -
?/? c.309+42del r.(=) p.(=) g.73763877del Copied from the Exome Variant Server NUMB_000077 56/12468 34/8242 22/4226 - - - - - - -
?/? c.310-37A>C r.(=) p.(=) g.73759619T>G Copied from the Exome Variant Server NUMB_000076 20/13006 0/8600 20/4406 - - - - - - -
?/? c.310-16G>T r.(=) p.(=) g.73759598C>A Copied from the Exome Variant Server NUMB_000075 1/13006 0/8600 1/4406 - - - - - - -
?/? c.310-11G>A r.(=) p.(=) g.73759593C>T Copied from the Exome Variant Server NUMB_000074 1/13006 0/8600 1/4406 - - - - - - -
?/? c.345T>C r.(=) p.(=) g.73759547A>G Copied from the Exome Variant Server NUMB_000073 184/13006 7/8600 177/4406 - - - - - - -
?/? c.450+3G>C r.spl? p.? g.73759439C>G Copied from the Exome Variant Server NUMB_000072 1/13006 1/8600 0/4406 - - - - - - -
?/? c.450+23T>G r.(=) p.(=) g.73759419A>C Copied from the Exome Variant Server NUMB_000071 33/13006 31/8600 2/4406 - - - - - - -
?/? c.502C>T r.(?) p.(Arg168Cys) g.73753971G>A Copied from the Exome Variant Server NUMB_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.519G>A r.(=) p.(=) g.73753954C>T Copied from the Exome Variant Server NUMB_000069 2/13006 2/8600 0/4406 - - - - - - -
?/? c.534G>A r.(=) p.(=) g.73753939C>T Copied from the Exome Variant Server NUMB_000068 1/13006 0/8600 1/4406 - - - - - - -
?/? c.575A>T r.(?) p.(Glu192Val) g.73753898T>A Copied from the Exome Variant Server NUMB_000067 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655+13C>T r.(=) p.(=) g.73753805G>A Copied from the Exome Variant Server NUMB_000066 1/13006 0/8600 1/4406 - - - - - - -
?/? c.655+18G>A r.(=) p.(=) g.73753800C>T Copied from the Exome Variant Server NUMB_000065 1/13006 1/8600 0/4406 - - - - - - -
?/? c.655+27T>C r.(=) p.(=) g.73753791A>G Copied from the Exome Variant Server NUMB_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.655+29T>G r.(=) p.(=) g.73753789A>C Copied from the Exome Variant Server NUMB_000064 10/13006 0/8600 10/4406 - - - - - - -
?/? c.655+31G>T r.(=) p.(=) g.73753787C>A Copied from the Exome Variant Server NUMB_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656-41G>A r.(=) p.(=) g.73751123C>T Copied from the Exome Variant Server NUMB_000061 1/13006 1/8600 0/4406 - - - - - - -
?/? c.656-35A>G r.(=) p.(=) g.73751117T>C Copied from the Exome Variant Server NUMB_000060 1/13006 0/8600 1/4406 - - - - - - -
?/? c.656-11A>G r.(=) p.(=) g.73751093T>C Copied from the Exome Variant Server NUMB_000059 1/13006 1/8600 0/4406 - - - - - - -
?/? c.665A>G r.(?) p.(Asp222Gly) g.73751073T>C Copied from the Exome Variant Server NUMB_000058 1/13006 1/8600 0/4406 - - - - - - -
?/? c.676G>A r.(?) p.(Val226Ile) g.73751062C>T Copied from the Exome Variant Server NUMB_000057 1/13006 0/8600 1/4406 - - - - - - -
?/? c.770A>G r.(?) p.(Asn257Ser) g.73750968T>C Copied from the Exome Variant Server NUMB_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.818G>T r.(?) p.(Arg273Leu) g.73750920C>A Copied from the Exome Variant Server NUMB_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.823G>A r.(?) p.(Gly275Ser) g.73750915C>T Copied from the Exome Variant Server NUMB_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.833G>A r.(?) p.(Arg278Gln) g.73750905C>T Copied from the Exome Variant Server NUMB_000053 2/13006 1/8600 1/4406 - - - - - - -
?/? c.933C>A r.(?) p.(Phe311Leu) g.73750805G>T Copied from the Exome Variant Server NUMB_000052 1/13006 0/8600 1/4406 - - - - - - -
?/? c.949+17C>A r.(=) p.(=) g.73750772G>T Copied from the Exome Variant Server NUMB_000051 1/13006 1/8600 0/4406 - - - - - - -
?/? c.949+52C>T r.(=) p.(=) g.73750737G>A Copied from the Exome Variant Server NUMB_000050 1/5734 1/3982 0/1752 - - - - - - -
?/? c.950-27T>A r.(=) p.(=) g.73749240A>T Copied from the Exome Variant Server NUMB_000049 3/13006 3/8600 0/4406 - - - - - - -
?/? c.962A>T r.(?) p.(Glu321Val) g.73749201T>A Copied from the Exome Variant Server NUMB_000048 1/13006 1/8600 0/4406 - - - - - - -
?/? c.977G>A r.(?) p.(Ser326Asn) g.73749186C>T Copied from the Exome Variant Server NUMB_000047 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1007A>G r.(?) p.(Asn336Ser) g.73749156T>C Copied from the Exome Variant Server NUMB_000046 11/13006 0/8600 11/4406 - - - - - - -
?/? c.1019C>T r.(?) p.(Thr340Ile) g.73749144G>A Copied from the Exome Variant Server NUMB_000045 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1027G>A r.(?) p.(Asp343Asn) g.73749136C>T Copied from the Exome Variant Server NUMB_000044 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1045C>T r.(?) p.(Pro349Ser) g.73749118G>A Copied from the Exome Variant Server NUMB_000043 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1087A>G r.(?) p.(Thr363Ala) g.73749076T>C Copied from the Exome Variant Server NUMB_000042 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1089C>T r.(=) p.(=) g.73749074G>A Copied from the Exome Variant Server NUMB_000041 457/13006 5/8600 452/4406 - - - - - - -
?/? c.1096+32C>G r.(=) p.(=) g.73749035G>C Copied from the Exome Variant Server NUMB_000040 2/13006 2/8600 0/4406 - - - - - - -
?/? c.1097-37G>A r.(=) p.(=) g.73746169C>T Copied from the Exome Variant Server NUMB_000039 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1097-28C>G r.(=) p.(=) g.73746160G>C Copied from the Exome Variant Server NUMB_000038 38/13006 0/8600 38/4406 - - - - - - -
?/? c.1097-8C>T r.(=) p.(=) g.73746140G>A Copied from the Exome Variant Server NUMB_000037 4/13006 0/8600 4/4406 - - - - - - -
?/? c.1130C>A r.(?) p.(Ala377Asp) g.73746099G>T Copied from the Exome Variant Server NUMB_000036 3/13006 3/8600 0/4406 - - - - - - -
?/? c.1159G>A r.(?) p.(Val387Ile) g.73746070C>T Copied from the Exome Variant Server NUMB_000035 33/13006 33/8600 0/4406 - - - - - - -
?/? c.1168C>G r.(?) p.(Pro390Ala) g.73746061G>C Copied from the Exome Variant Server NUMB_000034 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1175G>A r.(?) p.(Arg392His) g.73746054C>T Copied from the Exome Variant Server NUMB_000033 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1203T>C r.(=) p.(=) g.73746026A>G Copied from the Exome Variant Server NUMB_000032 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1239G>A r.(=) p.(=) g.73745990C>T Copied from the Exome Variant Server NUMB_000031 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1240+51C>G r.(=) p.(=) g.73745938G>C Copied from the Exome Variant Server NUMB_000030 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1241-41C>T r.(=) p.(=) g.73744042G>A Copied from the Exome Variant Server NUMB_000029 72/12248 0/8148 72/4100 - - - - - - -
?/? c.1252G>T r.(?) p.(Gly418Cys) g.73743990C>A Copied from the Exome Variant Server NUMB_000028 1/12926 1/8534 0/4392 - - - - - - -
?/? c.1294G>A r.(?) p.(Gly432Ser) g.73743948C>T Copied from the Exome Variant Server NUMB_000027 1/13002 0/8598 1/4404 - - - - - - -
?/? c.1357G>A r.(?) p.(Ala453Thr) g.73743885C>T Copied from the Exome Variant Server NUMB_000026 1/13006 0/8600 1/4406 - - - - - - -
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