Unique variants in gene ABCG5

Information The variants shown are described using the NM_022436.2 transcript reference sequence.

164 entries on 2 pages. Showing entries 1 - 100.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 c.-41C>T r.(=) p.(=) g.44065859G>A Copied from the Exome Variant Server ABCG5_000164 3/12990 0/8594 3/4396
1 c.-38C>A r.(=) p.(=) g.44065856G>T Copied from the Exome Variant Server ABCG5_000163 1/12988 0/8596 1/4392
1 c.43C>G r.(?) p.(Leu15Val) g.44065776G>C Copied from the Exome Variant Server ABCG5_000162 2/13004 2/8600 0/4404
1 c.50T>G r.(?) p.(Val17Gly) g.44065769A>C Copied from the Exome Variant Server ABCG5_000161 18/13006 0/8600 18/4406
1 c.78G>T r.(?) p.(Glu26Asp) g.44065741C>A Copied from the Exome Variant Server ABCG5_000160 3/13002 3/8596 0/4406
1 c.80G>C r.(?) p.(Gly27Ala) g.44065739C>G Copied from the Exome Variant Server ABCG5_000159 49/12998 46/8596 3/4402
1 c.93C>T r.(=) p.(=) g.44065726G>A Copied from the Exome Variant Server ABCG5_000158 1/12992 1/8586 0/4406
1 c.99G>A r.(=) p.(=) g.44065720C>T Copied from the Exome Variant Server ABCG5_000157 5/12968 2/8570 3/4398
1 c.112C>G r.(?) p.(Leu38Val) g.44065707G>C Copied from the Exome Variant Server ABCG5_000156 1/12966 0/8568 1/4398
1 c.116G>A r.(?) p.(Gly39Asp) g.44065703C>T Copied from the Exome Variant Server ABCG5_000155 3/12976 3/8578 0/4398
1 c.139G>T r.(?) p.(Val47Phe) g.44065680C>A Copied from the Exome Variant Server ABCG5_000154 44/12984 0/8588 44/4396
1 c.143+11G>A r.(=) p.(=) g.44065665C>T Copied from the Exome Variant Server ABCG5_000153 1/12970 0/8584 1/4386
1 c.143+26_143+28del r.(=) p.(=) g.44065648_44065650del Copied from the Exome Variant Server ABCG5_000152 298/12346 202/8148 96/4198
1 c.143+34del r.(=) p.(=) g.44065642del Copied from the Exome Variant Server ABCG5_000151 2/12376 1/8178 1/4198
1 c.143+51C>T r.(=) p.(=) g.44065625G>A Copied from the Exome Variant Server ABCG5_000150 11/12628 10/8378 1/4250
1 c.144-45C>A r.(=) p.(=) g.44065139G>T Copied from the Exome Variant Server ABCG5_000149 64/13006 61/8600 3/4406
1 c.148C>T r.(?) p.(Arg50Cys) g.44065090G>A Copied from the Exome Variant Server ABCG5_000148 867/13006 548/8600 319/4406
1 c.157C>T r.(?) p.(Pro53Ser) g.44065081G>A Copied from the Exome Variant Server ABCG5_000147 1/13006 0/8600 1/4406
1 c.169A>G r.(?) p.(Ile57Val) g.44065069T>C Copied from the Exome Variant Server ABCG5_000146 1/13006 1/8600 0/4406
1 c.182G>A r.(?) p.(Arg61Gln) g.44065056C>T Copied from the Exome Variant Server ABCG5_000145 1/13006 1/8600 0/4406
1 c.226G>A r.(?) p.(Val76Met) g.44065012C>T Copied from the Exome Variant Server ABCG5_000144 2/13006 0/8600 2/4406
1 c.235G>A r.(?) p.(Gly79Arg) g.44065003C>T Copied from the Exome Variant Server ABCG5_000143 9/13006 9/8600 0/4406
1 c.238C>A r.(?) p.(Gln80Lys) g.44065000G>T Copied from the Exome Variant Server ABCG5_000142 1/13006 0/8600 1/4406
1 c.265+10G>A r.(=) p.(=) g.44064963C>T Copied from the Exome Variant Server ABCG5_000141 5/13006 0/8600 5/4406
1 c.265+42G>A r.(=) p.(=) g.44064931C>T Copied from the Exome Variant Server ABCG5_000140 22/13006 1/8600 21/4406
1 c.266-37A>T r.(=) p.(=) g.44059259T>A Copied from the Exome Variant Server ABCG5_000139 3/12862 0/8520 3/4342
1 c.266-3C>T r.spl? p.? g.44059225G>A Copied from the Exome Variant Server ABCG5_000138 1/12956 1/8572 0/4384
1 c.293C>G r.(?) p.(Ala98Gly) g.44059195G>C Copied from the Exome Variant Server ABCG5_000137 22/12948 20/8562 2/4386
1 c.325T>C r.(?) p.(Phe109Leu) g.44059163A>G Copied from the Exome Variant Server ABCG5_000136 11/12870 2/8520 9/4350
1 c.336G>T r.(?) p.(Glu112Asp) g.44059152C>A Copied from the Exome Variant Server ABCG5_000135 1/12844 0/8514 1/4330
1 c.364C>T r.(?) p.(Arg122Trp) g.44059124G>A Copied from the Exome Variant Server ABCG5_000134 1/12592 1/8350 0/4242
1 c.403-39C>T r.(=) p.(=) g.44059045G>A Copied from the Exome Variant Server ABCG5_000133 6/10676 0/7196 6/3480
1 c.403-27C>T r.(=) p.(=) g.44059033G>A Copied from the Exome Variant Server ABCG5_000132 4/12656 4/8382 0/4274
1 c.408C>T r.(=) p.(=) g.44059001G>A Copied from the Exome Variant Server ABCG5_000131 2/12950 0/8560 2/4390
1 c.431T>C r.(?) p.(Val144Ala) g.44058978A>G Copied from the Exome Variant Server ABCG5_000130 1/12968 0/8570 1/4398
1 c.442C>T r.(=) p.(=) g.44058967G>A Copied from the Exome Variant Server ABCG5_000129 4/12976 3/8578 1/4398
1 c.499_501del r.(?) p.(Lys167del) g.44058908_44058910del Copied from the Exome Variant Server ABCG5_000128 6/12434 5/8210 1/4224
1 c.501+16del r.(=) p.(=) g.44058892del Copied from the Exome Variant Server ABCG5_000127 18/12306 7/8134 11/4172
1 c.501+16dup r.(=) p.(=) g.44058892dup Copied from the Exome Variant Server ABCG5_000125 112/12306 6/8134 106/4172
1 c.509C>A r.(?) p.(Ala170Asp) g.44055247G>T Copied from the Exome Variant Server ABCG5_000123 1/13006 0/8600 1/4406
1 c.510C>T r.(=) p.(=) g.44055246G>A Copied from the Exome Variant Server ABCG5_000121 6/13006 0/8600 6/4406
1 c.523C>A r.(?) p.(Leu175Met) g.44055233G>T Copied from the Exome Variant Server ABCG5_000119 1/13006 0/8600 1/4406
1 c.547C>T r.(?) p.(Arg183*) g.44055209G>A Copied from the Exome Variant Server ABCG5_000117 1/13006 0/8600 1/4406
1 c.593G>A r.(?) p.(Arg198Gln) g.44055163C>T Copied from the Exome Variant Server ABCG5_000115 14/13006 14/8600 0/4406
1 c.596_597del r.(?) p.(Arg199Profs*13) g.44055159_44055160del Copied from the Exome Variant Server ABCG5_000113 15/12520 8/8254 7/4266
1 c.621G>A r.(=) p.(=) g.44055135C>T Copied from the Exome Variant Server ABCG5_000126 1/13006 0/8600 1/4406
1 c.634+1G>C r.spl? p.? g.44055121C>G Copied from the Exome Variant Server ABCG5_000124 1/13006 1/8600 0/4406
1 c.634+3A>G r.spl? p.? g.44055119T>C Copied from the Exome Variant Server ABCG5_000122 3/13006 0/8600 3/4406
1 c.634+25T>G r.(=) p.(=) g.44055097A>C Copied from the Exome Variant Server ABCG5_000120 4/13006 0/8600 4/4406
1 c.694G>A r.(?) p.(Val232Ile) g.44053601C>T Copied from the Exome Variant Server ABCG5_000118 2/13006 0/8600 2/4406
1 c.696C>T r.(=) p.(=) g.44053599G>A Copied from the Exome Variant Server ABCG5_000116 19/13006 16/8600 3/4406
1 c.697G>A r.(?) p.(Val233Ile) g.44053598C>T Copied from the Exome Variant Server ABCG5_000114 3/13006 2/8600 1/4406
1 c.745A>G r.(?) p.(Ile249Val) g.44053550T>C Copied from the Exome Variant Server ABCG5_000112 1/13006 0/8600 1/4406
1 c.751C>T r.(?) p.(Gln251*) g.44053544G>A Copied from the Exome Variant Server ABCG5_000111 1/13006 1/8600 0/4406
1 c.755C>G r.(?) p.(Pro252Arg) g.44053540G>C Copied from the Exome Variant Server ABCG5_000110 1/13006 1/8600 0/4406
1 c.758G>A r.(?) p.(Arg253His) g.44053537C>T Copied from the Exome Variant Server ABCG5_000109 2/13006 1/8600 1/4406
1 c.761C>G r.(?) p.(Ser254Cys) g.44053534G>C Copied from the Exome Variant Server ABCG5_000108 1/13006 1/8600 0/4406
1 c.774+6A>T r.(=) p.(=) g.44053515T>A Copied from the Exome Variant Server ABCG5_000107 1/13006 1/8600 0/4406
1 c.775-50G>A r.(=) p.(=) g.44052207C>T Copied from the Exome Variant Server ABCG5_000106 1/13006 0/8600 1/4406
1 c.775-46C>T r.(=) p.(=) g.44052203G>A Copied from the Exome Variant Server ABCG5_000105 4/13006 4/8600 0/4406
1 c.775-45G>T r.(=) p.(=) g.44052202C>A Copied from the Exome Variant Server ABCG5_000104 195/13006 3/8600 192/4406
1 c.775-29C>G r.(=) p.(=) g.44052186G>C Copied from the Exome Variant Server ABCG5_000103 4/13006 0/8600 4/4406
1 c.775-18C>T r.(=) p.(=) g.44052175G>A Copied from the Exome Variant Server ABCG5_000102 13/13006 13/8600 0/4406
1 c.775-17G>A r.(=) p.(=) g.44052174C>T Copied from the Exome Variant Server ABCG5_000101 2/13006 2/8600 0/4406
1 c.775-10G>T r.(=) p.(=) g.44052167C>A Copied from the Exome Variant Server ABCG5_000100 101/13006 1/8600 100/4406
1 c.775-7T>A r.(=) p.(=) g.44052164A>T Copied from the Exome Variant Server ABCG5_000099 3/13006 2/8600 1/4406
1 c.785A>G r.(?) p.(Lys262Arg) g.44052147T>C Copied from the Exome Variant Server ABCG5_000098 250/13006 2/8600 248/4406
1 c.827C>T r.(?) p.(Thr276Met) g.44052105G>A Copied from the Exome Variant Server ABCG5_000097 1/13006 1/8600 0/4406
1 c.834G>A r.(=) p.(=) g.44052098C>T Copied from the Exome Variant Server ABCG5_000096 1/13006 0/8600 1/4406
1 c.849C>T r.(=) p.(=) g.44052083G>A Copied from the Exome Variant Server ABCG5_000095 2/13006 0/8600 2/4406
1 c.862G>A r.(?) p.(Gly288Ser) g.44052070C>T Copied from the Exome Variant Server ABCG5_000094 2/13006 0/8600 2/4406
1 c.893T>C r.(?) p.(Phe298Ser) g.44052039A>G Copied from the Exome Variant Server ABCG5_000093 1/13006 1/8600 0/4406
1 c.897C>T r.(=) p.(=) g.44052035G>A Copied from the Exome Variant Server ABCG5_000092 2/13006 2/8600 0/4406
1 c.902A>G r.(?) p.(Tyr301Cys) g.44052030T>C Copied from the Exome Variant Server ABCG5_000091 1/13006 0/8600 1/4406
1 c.904+33T>C r.(=) p.(=) g.44051995A>G Copied from the Exome Variant Server ABCG5_000090 2/13006 2/8600 0/4406
1 c.904+52T>A r.(=) p.(=) g.44051976A>T Copied from the Exome Variant Server ABCG5_000089 1/5734 0/3982 1/1752
1 c.905-50T>C r.(=) p.(=) g.44051621A>G Copied from the Exome Variant Server ABCG5_000088 1/12988 0/8596 1/4392
1 c.914C>T r.(?) p.(Thr305Met) g.44051562G>A Copied from the Exome Variant Server ABCG5_000087 2/13006 0/8600 2/4406
1 c.920T>C r.(?) p.(Val307Ala) g.44051556A>G Copied from the Exome Variant Server ABCG5_000086 1/13006 0/8600 1/4406
1 c.957C>T r.(=) p.(=) g.44051519G>A Copied from the Exome Variant Server ABCG5_000085 15/13006 0/8600 15/4406
1 c.969G>T r.(?) p.(Gln323His) g.44051507C>A Copied from the Exome Variant Server ABCG5_000084 2/13002 2/8598 0/4404
1 c.1043T>G r.(?) p.(Leu348Arg) g.44051433A>C Copied from the Exome Variant Server ABCG5_000083 2/13006 2/8600 0/4406
1 c.1044G>T r.(=) p.(=) g.44051432C>A Copied from the Exome Variant Server ABCG5_000082 1/13006 0/8600 1/4406
1 c.1045A>T r.(?) p.(Lys349*) g.44051431T>A Copied from the Exome Variant Server ABCG5_000081 1/13006 0/8600 1/4406
1 c.1049C>T r.(?) p.(Thr350Met) g.44051427G>A Copied from the Exome Variant Server ABCG5_000080 1/13006 1/8600 0/4406
1 c.1066T>C r.(?) p.(Phe356Leu) g.44051410A>G Copied from the Exome Variant Server ABCG5_000079 1/13006 1/8600 0/4406
1 c.1118+13C>G r.(=) p.(=) g.44051345G>C Copied from the Exome Variant Server ABCG5_000078 6/13006 0/8600 6/4406
1 c.1118+17T>C r.(=) p.(=) g.44051341A>G Copied from the Exome Variant Server ABCG5_000077 1/13006 0/8600 1/4406
1 c.1118+32T>C r.(=) p.(=) g.44051326A>G Copied from the Exome Variant Server ABCG5_000076 1/13006 0/8600 1/4406
1 c.1118+39T>G r.(=) p.(=) g.44051319A>C Copied from the Exome Variant Server ABCG5_000075 1/13004 1/8598 0/4406
1 c.1118+46C>A r.(=) p.(=) g.44051312G>T Copied from the Exome Variant Server ABCG5_000074 6/13004 0/8598 6/4406
1 c.1119-45A>G r.(=) p.(=) g.44051302T>C Copied from the Exome Variant Server ABCG5_000073 1/13002 0/8598 1/4404
1 c.1119-30A>G r.(=) p.(=) g.44051287T>C Copied from the Exome Variant Server ABCG5_000071 117/13000 0/8598 117/4402
1 c.1119-16G>C r.(=) p.(=) g.44051273C>G Copied from the Exome Variant Server ABCG5_000069 1/13006 1/8600 0/4406
1 c.1119-15del r.(=) p.(=) g.44051272del Copied from the Exome Variant Server ABCG5_000067 1/12516 0/8254 1/4262
1 c.1151T>C r.(?) p.(Leu384Pro) g.44051225A>G Copied from the Exome Variant Server ABCG5_000072 1/13006 0/8600 1/4406
1 c.1163C>T r.(?) p.(Thr388Met) g.44051213G>A Copied from the Exome Variant Server ABCG5_000070 4/13006 4/8600 0/4406
1 c.1164G>A r.(=) p.(=) g.44051212C>T Copied from the Exome Variant Server ABCG5_000068 2/13006 0/8600 2/4406
1 c.1171C>T r.(?) p.(Leu391Phe) g.44051205G>A Copied from the Exome Variant Server ABCG5_000066 8/13006 0/8600 8/4406
1 c.1210G>A r.(?) p.(Val404Ile) g.44051166C>T Copied from the Exome Variant Server ABCG5_000065 1/13006 0/8600 1/4406
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