Full data view for gene ABCG2

Information The variants shown are described using the NM_004827.2 transcript reference sequence.

139 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.-19-8G>C r.(=) p.(=) g.89061174C>G Copied from the Exome Variant Server ABCG2_000139 4/13002 0/8600 4/4402 - - - - - - -
?/? c.-5T>C r.(=) p.(=) g.89061152A>G Copied from the Exome Variant Server ABCG2_000138 1/13006 0/8600 1/4406 - - - - - - -
?/? c.14A>G r.(?) p.(Asn5Ser) g.89061134T>C Copied from the Exome Variant Server ABCG2_000137 1/13006 1/8600 0/4406 - - - - - - -
?/? c.18C>T r.(=) p.(=) g.89061130G>A Copied from the Exome Variant Server ABCG2_000136 1/13006 1/8600 0/4406 - - - - - - -
?/? c.23T>C r.(?) p.(Val8Ala) g.89061125A>G Copied from the Exome Variant Server ABCG2_000135 1/13006 1/8600 0/4406 - - - - - - -
?/? c.34G>A r.(?) p.(Val12Met) g.89061114C>T Copied from the Exome Variant Server ABCG2_000134 592/13006 325/8600 267/4406 - - - - - - -
?/? c.42A>G r.(=) p.(=) g.89061106T>C Copied from the Exome Variant Server ABCG2_000133 1/13006 1/8600 0/4406 - - - - - - -
?/? c.64G>A r.(?) p.(Ala22Thr) g.89061084C>T Copied from the Exome Variant Server ABCG2_000132 1/13006 0/8600 1/4406 - - - - - - -
?/? c.65C>T r.(?) p.(Ala22Val) g.89061083G>A Copied from the Exome Variant Server ABCG2_000131 2/13006 1/8600 1/4406 - - - - - - -
?/? c.77A>G r.(?) p.(Asn26Ser) g.89061071T>C Copied from the Exome Variant Server ABCG2_000130 1/13006 1/8600 0/4406 - - - - - - -
?/? c.107T>G r.(?) p.(Val36Gly) g.89061041A>C Copied from the Exome Variant Server ABCG2_000129 1/13006 1/8600 0/4406 - - - - - - -
?/? c.134G>A r.(?) p.(Arg45Gln) g.89061014C>T Copied from the Exome Variant Server ABCG2_000128 3/13006 3/8600 0/4406 - - - - - - -
?/? c.195G>A r.(=) p.(=) g.89060953C>T Copied from the Exome Variant Server ABCG2_000127 1/13004 1/8600 0/4404 - - - - - - -
?/? c.187_197del r.(?) p.(Ile63Tyrfs*54) g.89060951_89060961del Copied from the Exome Variant Server ABCG2_000126 6/12518 5/8254 1/4264 - - - - - - -
?/? c.203+36A>G r.(=) p.(=) g.89060909T>C Copied from the Exome Variant Server ABCG2_000125 546/13004 326/8600 220/4404 - - - - - - -
?/? c.204-28G>A r.(=) p.(=) g.89053815C>T Copied from the Exome Variant Server ABCG2_000124 1/13006 1/8600 0/4406 - - - - - - -
?/? c.204-3C>T r.spl? p.? g.89053790G>A Copied from the Exome Variant Server ABCG2_000123 117/13006 2/8600 115/4406 - - - - - - -
?/? c.211A>G r.(?) p.(Met71Val) g.89053780T>C Copied from the Exome Variant Server ABCG2_000122 10/13006 9/8600 1/4406 - - - - - - -
?/? c.242C>T r.(?) p.(Pro81Leu) g.89053749G>A Copied from the Exome Variant Server ABCG2_000121 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263C>T r.(?) p.(Ser88Leu) g.89053728G>A Copied from the Exome Variant Server ABCG2_000120 3/13006 3/8600 0/4406 - - - - - - -
?/? c.263+10A>G r.(=) p.(=) g.89053718T>C Copied from the Exome Variant Server ABCG2_000119 409/13006 227/8600 182/4406 - - - - - - -
?/? c.263+11G>A r.(=) p.(=) g.89053717C>T Copied from the Exome Variant Server ABCG2_000118 1/13006 0/8600 1/4406 - - - - - - -
?/? c.263+27G>A r.(=) p.(=) g.89053701C>T Copied from the Exome Variant Server ABCG2_000117 1/13006 1/8600 0/4406 - - - - - - -
?/? c.263+34G>C r.(=) p.(=) g.89053694C>G Copied from the Exome Variant Server ABCG2_000116 1/13006 0/8600 1/4406 - - - - - - -
?/? c.263+59G>C r.(=) p.(=) g.89053669C>G Copied from the Exome Variant Server ABCG2_000115 1/4566 0/3182 1/1384 - - - - - - -
?/? c.263+70T>G r.(=) p.(=) g.89053658A>C Copied from the Exome Variant Server ABCG2_000114 4/4566 1/3182 3/1384 - - - - - - -
?/? c.263+70_263+71insG r.(=) p.(=) g.89053657_89053658insC Copied from the Exome Variant Server ABCG2_000113 34/12520 4/8254 30/4266 - - - - - - -
?/? c.264-36G>T r.(=) p.(=) g.89053105C>A Copied from the Exome Variant Server ABCG2_000112 1/13006 0/8600 1/4406 - - - - - - -
?/? c.286A>G r.(?) p.(Arg96Gly) g.89053047T>C Copied from the Exome Variant Server ABCG2_000111 1/13006 0/8600 1/4406 - - - - - - -
?/? c.329G>A r.(?) p.(Gly110Glu) g.89053004C>T Copied from the Exome Variant Server ABCG2_000110 1/13006 1/8600 0/4406 - - - - - - -
?/? c.335C>A r.(?) p.(Pro112Gln) g.89052998G>T Copied from the Exome Variant Server ABCG2_000109 5/13006 5/8600 0/4406 - - - - - - -
?/? c.369C>T r.(=) p.(=) g.89052964G>A Copied from the Exome Variant Server ABCG2_000108 315/13006 3/8600 312/4406 - - - - - - -
?/? c.378+35C>T r.(=) p.(=) g.89052920G>A Copied from the Exome Variant Server ABCG2_000107 1/13006 0/8600 1/4406 - - - - - - -
?/? c.378+49G>T r.(=) p.(=) g.89052906C>A Copied from the Exome Variant Server ABCG2_000106 1/13006 0/8600 1/4406 - - - - - - -
?/? c.379-36A>G r.(=) p.(=) g.89052401T>C Copied from the Exome Variant Server ABCG2_000105 1/13006 0/8600 1/4406 - - - - - - -
?/? c.379-17A>G r.(=) p.(=) g.89052382T>C Copied from the Exome Variant Server ABCG2_000104 1/13006 1/8600 0/4406 - - - - - - -
?/? c.384T>G r.(?) p.(Asp128Glu) g.89052360A>C Copied from the Exome Variant Server ABCG2_000103 1/13006 0/8600 1/4406 - - - - - - -
?/? c.396C>T r.(=) p.(=) g.89052348G>A Copied from the Exome Variant Server ABCG2_000102 1/13006 1/8600 0/4406 - - - - - - -
?/? c.405G>A r.(=) p.(=) g.89052339C>T Copied from the Exome Variant Server ABCG2_000101 1/13006 0/8600 1/4406 - - - - - - -
?/? c.421C>A r.(?) p.(Gln141Lys) g.89052323G>T Copied from the Exome Variant Server ABCG2_000099 1099/13006 957/8600 142/4406 - - - - - - -
?/? c.439C>T r.(?) p.(Arg147Trp) g.89052305G>A Copied from the Exome Variant Server ABCG2_000097 1/13006 1/8600 0/4406 - - - - - - -
?/? c.473A>C r.(?) p.(Asn158Thr) g.89052271T>G Copied from the Exome Variant Server ABCG2_000095 2/13006 2/8600 0/4406 - - - - - - -
?/? c.474C>T r.(=) p.(=) g.89052270G>A Copied from the Exome Variant Server ABCG2_000093 4/13006 3/8600 1/4406 - - - - - - -
?/? c.531+14A>T r.(=) p.(=) g.89052199T>A Copied from the Exome Variant Server ABCG2_000091 9/13006 0/8600 9/4406 - - - - - - -
?/? c.531+35A>G r.(=) p.(=) g.89052178T>C Copied from the Exome Variant Server ABCG2_000089 1/13006 1/8600 0/4406 - - - - - - -
?/? c.532-16A>G r.(=) p.(=) g.89042960T>C Copied from the Exome Variant Server ABCG2_000100 1570/13006 179/8600 1391/4406 - - - - - - -
?/? c.550C>T r.(?) p.(Arg184Cys) g.89042926G>A Copied from the Exome Variant Server ABCG2_000098 1/13006 1/8600 0/4406 - - - - - - -
?/? c.600T>G r.(=) p.(=) g.89042876A>C Copied from the Exome Variant Server ABCG2_000096 1/13006 1/8600 0/4406 - - - - - - -
?/? c.603C>T r.(=) p.(=) g.89042873G>A Copied from the Exome Variant Server ABCG2_000094 1/13006 0/8600 1/4406 - - - - - - -
?/? c.616A>C r.(?) p.(Ile206Leu) g.89042860T>G Copied from the Exome Variant Server ABCG2_000092 5/13006 5/8600 0/4406 - - - - - - -
?/? c.634C>G r.(?) p.(Pro212Ala) g.89042842G>C Copied from the Exome Variant Server ABCG2_000090 1/13006 1/8600 0/4406 - - - - - - -
?/? c.659C>G r.(?) p.(Thr220Arg) g.89042817G>C Copied from the Exome Variant Server ABCG2_000088 1/13006 1/8600 0/4406 - - - - - - -
?/? c.689+24C>A r.(=) p.(=) g.89042763G>T Copied from the Exome Variant Server ABCG2_000087 1/13006 1/8600 0/4406 - - - - - - -
?/? c.690-26T>C r.(=) p.(=) g.89039438A>G Copied from the Exome Variant Server ABCG2_000086 1/13006 0/8600 1/4406 - - - - - - -
?/? c.690-23G>T r.(=) p.(=) g.89039435C>A Copied from the Exome Variant Server ABCG2_000085 2/13006 0/8600 2/4406 - - - - - - -
?/? c.690-22T>A r.(=) p.(=) g.89039434A>T Copied from the Exome Variant Server ABCG2_000084 12/13006 0/8600 12/4406 - - - - - - -
?/? c.706C>T r.(?) p.(Arg236*) g.89039396G>A Copied from the Exome Variant Server ABCG2_000083 5/13006 4/8600 1/4406 - - - - - - -
?/? c.707G>A r.(?) p.(Arg236Gln) g.89039395C>T Copied from the Exome Variant Server ABCG2_000082 1/13006 0/8600 1/4406 - - - - - - -
?/? c.722C>T r.(?) p.(Ser241Phe) g.89039380G>A Copied from the Exome Variant Server ABCG2_000081 1/13006 1/8600 0/4406 - - - - - - -
?/? c.736C>T r.(?) p.(Arg246*) g.89039366G>A Copied from the Exome Variant Server ABCG2_000080 1/13006 1/8600 0/4406 - - - - - - -
?/? c.770C>A r.(?) p.(Thr257Asn) g.89039332G>T Copied from the Exome Variant Server ABCG2_000079 1/13006 1/8600 0/4406 - - - - - - -
?/? c.791_792del r.(?) p.(Leu264Hisfs*14) g.89039310_89039311del Copied from the Exome Variant Server ABCG2_000078 1/12520 0/8254 1/4266 - - - - - - -
?/? c.801C>T r.(=) p.(=) g.89039301G>A Copied from the Exome Variant Server ABCG2_000077 1/13006 1/8600 0/4406 - - - - - - -
?/? c.831T>C r.(=) p.(=) g.89039271A>G Copied from the Exome Variant Server ABCG2_000076 1/13006 1/8600 0/4406 - - - - - - -
?/? c.841+18A>G r.(=) p.(=) g.89039243T>C Copied from the Exome Variant Server ABCG2_000075 803/13006 24/8600 779/4406 - - - - - - -
?/? c.841+47C>A r.(=) p.(=) g.89039214G>T Copied from the Exome Variant Server ABCG2_000074 4/13004 0/8600 4/4404 - - - - - - -
?/? c.842-12C>T r.(=) p.(=) g.89036222G>A Copied from the Exome Variant Server ABCG2_000073 1/13006 1/8600 0/4406 - - - - - - -
?/? c.842-3T>C r.spl? p.? g.89036213A>G Copied from the Exome Variant Server ABCG2_000072 1/13006 0/8600 1/4406 - - - - - - -
?/? c.842G>T r.(?) p.(Gly281Val) g.89036210C>A Copied from the Exome Variant Server ABCG2_000071 1/13006 1/8600 0/4406 - - - - - - -
?/? c.876C>T r.(=) p.(=) g.89036176G>A Copied from the Exome Variant Server ABCG2_000070 1/13006 1/8600 0/4406 - - - - - - -
?/? c.891C>G r.(?) p.(Ile297Met) g.89036161G>C Copied from the Exome Variant Server ABCG2_000069 2/13006 2/8600 0/4406 - - - - - - -
?/? c.936C>T r.(=) p.(=) g.89036116G>A Copied from the Exome Variant Server ABCG2_000068 1/13006 1/8600 0/4406 - - - - - - -
?/? c.937T>G r.(?) p.(Phe313Val) g.89036115A>C Copied from the Exome Variant Server ABCG2_000067 3/13006 0/8600 3/4406 - - - - - - -
?/? c.943+8A>G r.(=) p.(=) g.89036101T>C Copied from the Exome Variant Server ABCG2_000066 2/13006 0/8600 2/4406 - - - - - - -
?/? c.943+38T>C r.(=) p.(=) g.89036071A>G Copied from the Exome Variant Server ABCG2_000065 2/13006 2/8600 0/4406 - - - - - - -
?/? c.944-28G>A r.(=) p.(=) g.89034733C>T Copied from the Exome Variant Server ABCG2_000064 1/13006 1/8600 0/4406 - - - - - - -
?/? c.944-10G>A r.(=) p.(=) g.89034715C>T Copied from the Exome Variant Server ABCG2_000063 1/13006 0/8600 1/4406 - - - - - - -
?/? c.952A>G r.(?) p.(Ile318Val) g.89034697T>C Copied from the Exome Variant Server ABCG2_000062 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1013A>G r.(?) p.(Asn338Ser) g.89034636T>C Copied from the Exome Variant Server ABCG2_000061 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1060G>A r.(?) p.(Gly354Arg) g.89034589C>T Copied from the Exome Variant Server ABCG2_000060 50/13006 43/8600 7/4406 - - - - - - -
?/? c.1064del r.(?) p.(Gly355Valfs*42) g.89034585del Copied from the Exome Variant Server ABCG2_000059 65/12518 36/8254 29/4264 - - - - - - -
?/? c.1079_1081del r.(?) p.(Lys360del) g.89034568_89034570del Copied from the Exome Variant Server ABCG2_000058 81/12518 59/8254 22/4264 - - - - - - -
?/? c.1098G>A r.(=) p.(=) g.89034551C>T Copied from the Exome Variant Server ABCG2_000057 8/13006 6/8600 2/4406 - - - - - - -
?/? c.1134A>G r.(=) p.(=) g.89034515T>C Copied from the Exome Variant Server ABCG2_000056 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1148G>A r.(?) p.(Arg383His) g.89034501C>T Copied from the Exome Variant Server ABCG2_000055 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1164G>T r.(?) p.(Leu388Phe) g.89034485C>A Copied from the Exome Variant Server ABCG2_000054 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1194+45G>T r.(=) p.(=) g.89034410C>A Copied from the Exome Variant Server ABCG2_000053 6/13006 0/8600 6/4406 - - - - - - -
?/? c.1195-60A>T r.(=) p.(=) g.89028478T>A Copied from the Exome Variant Server ABCG2_000052 1266/4562 1165/3178 101/1384 - - - - - - -
?/? c.1195-21del r.(=) p.(=) g.89028439del Copied from the Exome Variant Server ABCG2_000050 14/12510 12/8250 2/4260 - - - - - - -
?/? c.1195-20_1195-18del r.(=) p.(=) g.89028436_89028438del Copied from the Exome Variant Server ABCG2_000048 22/12516 9/8250 13/4266 - - - - - - -
?/? c.1209C>T r.(=) p.(=) g.89028404G>A Copied from the Exome Variant Server ABCG2_000046 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1225A>G r.(?) p.(Ile409Val) g.89028388T>C Copied from the Exome Variant Server ABCG2_000044 1/13004 0/8598 1/4406 - - - - - - -
?/? c.1277+43T>G r.(=) p.(=) g.89028293A>C Copied from the Exome Variant Server ABCG2_000042 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1277+52C>T r.(=) p.(=) g.89028284G>A Copied from the Exome Variant Server ABCG2_000040 1/10294 0/7164 1/3130 - - - - - - -
?/? c.1278-29C>T r.(=) p.(=) g.89022500G>A Copied from the Exome Variant Server ABCG2_000038 30/13006 0/8600 30/4406 - - - - - - -
?/? c.1278-7A>G r.(=) p.(=) g.89022478T>C Copied from the Exome Variant Server ABCG2_000051 15/13006 14/8600 1/4406 - - - - - - -
?/? c.1332C>T r.(=) p.(=) g.89022417G>A Copied from the Exome Variant Server ABCG2_000049 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1367+15G>T r.(=) p.(=) g.89022367C>A Copied from the Exome Variant Server ABCG2_000047 120/13006 1/8600 119/4406 - - - - - - -
?/? c.1367+20G>A r.(=) p.(=) g.89022362C>T Copied from the Exome Variant Server ABCG2_000045 9816/13006 8245/8600 1571/4406 - - - - - - -
?/? c.1367+24A>G r.(=) p.(=) g.89022358T>C Copied from the Exome Variant Server ABCG2_000043 9/13006 8/8600 1/4406 - - - - - - -
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