All transcript variants in gene ABCB4

Information The variants shown are described using the NM_000443.3 transcript reference sequence.

211 entries on 3 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.-6-43C>T r.(=) p.(=) g.87104830G>A Copied from the Exome Variant Server ABCB4_000211 3/12994 2/8596 1/4398
?/? c.-6-40A>G r.(=) p.(=) g.87104827T>C Copied from the Exome Variant Server ABCB4_000210 4/13004 3/8598 1/4406
?/? c.-6-28T>G r.(=) p.(=) g.87104815A>C Copied from the Exome Variant Server ABCB4_000209 2/13006 2/8600 0/4406
?/? c.-6-4T>C r.spl? p.? g.87104791A>G Copied from the Exome Variant Server ABCB4_000208 173/13004 2/8600 171/4404
?/? c.-1G>A r.(=) p.(=) g.87104782C>T Copied from the Exome Variant Server ABCB4_000207 5/13006 1/8600 4/4406
?/? c.1A>G r.? p.? g.87104781T>C Copied from the Exome Variant Server ABCB4_000206 1/13006 0/8600 1/4406
?/? c.54G>A r.(=) p.(=) g.87104728C>T Copied from the Exome Variant Server ABCB4_000205 1/13006 1/8600 0/4406
?/? c.80+5A>C r.spl? p.? g.87104697T>G Copied from the Exome Variant Server ABCB4_000204 5/13006 0/8600 5/4406
?/? c.80+41A>G r.(=) p.(=) g.87104661T>C Copied from the Exome Variant Server ABCB4_000203 1/13006 0/8600 1/4406
?/? c.81-16A>G r.(=) p.(=) g.87102007T>C Copied from the Exome Variant Server ABCB4_000202 87/12996 2/8594 85/4402
?/? c.101C>T r.(?) p.(Thr34Met) g.87101971G>A Copied from the Exome Variant Server ABCB4_000201 20/13002 0/8600 20/4402
?/? c.139C>T r.(?) p.(Arg47*) g.87092221G>A Copied from the Exome Variant Server ABCB4_000200 1/13006 0/8600 1/4406
?/? c.140G>A r.(?) p.(Arg47Gln) g.87092220C>T Copied from the Exome Variant Server ABCB4_000199 1/13006 0/8600 1/4406
?/? c.147C>T r.(=) p.(=) g.87092213G>A Copied from the Exome Variant Server ABCB4_000198 236/13006 1/8600 235/4406
?/? c.173C>T r.(?) p.(Ser58Leu) g.87092187G>A Copied from the Exome Variant Server ABCB4_000197 1/13006 1/8600 0/4406
?/? c.175C>T r.(=) p.(=) g.87092185G>A Copied from the Exome Variant Server ABCB4_000196 3148/13006 1264/8600 1884/4406
?/? c.217C>G r.(?) p.(Leu73Val) g.87092143G>C Copied from the Exome Variant Server ABCB4_000195 11/13006 11/8600 0/4406
?/? c.283C>T r.(?) p.(Pro95Ser) g.87092077G>A Copied from the Exome Variant Server ABCB4_000194 1/13006 0/8600 1/4406
?/? c.286+28del r.(=) p.(=) g.87092046del Copied from the Exome Variant Server ABCB4_000193 16/12518 11/8254 5/4264
?/? c.287-30T>C r.(=) p.(=) g.87083938A>G Copied from the Exome Variant Server ABCB4_000192 1/12896 0/8532 1/4364
?/? c.287-1G>A r.spl? p.? g.87083909C>T Copied from the Exome Variant Server ABCB4_000191 1/12974 1/8570 0/4404
?/? c.344+9T>C r.(=) p.(=) g.87083842A>G Copied from the Exome Variant Server ABCB4_000189 1/12994 1/8590 0/4404
?/? c.344+29A>G r.(=) p.(=) g.87083822T>C Copied from the Exome Variant Server ABCB4_000187 1/12972 1/8570 0/4402
?/? c.345-50_345-46del r.(=) p.(=) g.87082497_87082501del Copied from the Exome Variant Server ABCB4_000190 284/12454 233/8230 51/4224
?/? c.345-17T>C r.(=) p.(=) g.87082468A>G Copied from the Exome Variant Server ABCB4_000188 1/13006 1/8600 0/4406
?/? c.456G>A r.(=) p.(=) g.87082340C>T Copied from the Exome Variant Server ABCB4_000186 20/13006 2/8600 18/4406
?/? c.459T>C r.(=) p.(=) g.87082337A>G Copied from the Exome Variant Server ABCB4_000185 224/13006 1/8600 223/4406
?/? c.475C>T r.(?) p.(Arg159*) g.87082321G>A Copied from the Exome Variant Server ABCB4_000184 1/13006 1/8600 0/4406
?/? c.504C>T r.(=) p.(=) g.87082292G>A Copied from the Exome Variant Server ABCB4_000183 5256/13006 4715/8600 541/4406
?/? c.523A>G r.(?) p.(Thr175Ala) g.87082273T>C Copied from the Exome Variant Server ABCB4_000182 110/13006 103/8600 7/4406
?/? c.536+11T>C r.(=) p.(=) g.87082249A>G Copied from the Exome Variant Server ABCB4_000181 27/13006 0/8600 27/4406
?/? c.536+24C>T r.(=) p.(=) g.87082236G>A Copied from the Exome Variant Server ABCB4_000180 1/13006 1/8600 0/4406
?/? c.536+32T>C r.(=) p.(=) g.87082228A>G Copied from the Exome Variant Server ABCB4_000179 1/13006 0/8600 1/4406
?/? c.536+44del r.(=) p.(=) g.87082216del Copied from the Exome Variant Server ABCB4_000178 1/12518 1/8254 0/4264
?/? c.537-44C>A r.(=) p.(=) g.87081154G>T Copied from the Exome Variant Server ABCB4_000177 5/13006 4/8600 1/4406
?/? c.586T>C r.(?) p.(Phe196Leu) g.87081061A>G Copied from the Exome Variant Server ABCB4_000176 1/13006 0/8600 1/4406
?/? c.669C>G r.(?) p.(Ile223Met) g.87080978G>C Copied from the Exome Variant Server ABCB4_000175 1/13006 1/8600 0/4406
?/? c.696C>T r.(=) p.(=) g.87080951G>A Copied from the Exome Variant Server ABCB4_000174 5/13006 1/8600 4/4406
?/? c.708+30G>A r.(=) p.(=) g.87080909C>T Copied from the Exome Variant Server ABCB4_000173 1/13006 1/8600 0/4406
?/? c.709-38C>G r.(=) p.(=) g.87079446G>C Copied from the Exome Variant Server ABCB4_000172 1/13006 1/8600 0/4406
?/? c.709-22T>A r.(=) p.(=) g.87079430A>T Copied from the Exome Variant Server ABCB4_000171 2/13006 2/8600 0/4406
?/? c.709-17G>C r.(=) p.(=) g.87079425C>G Copied from the Exome Variant Server ABCB4_000170 1/13006 0/8600 1/4406
?/? c.709-7T>C r.(=) p.(=) g.87079415A>G Copied from the Exome Variant Server ABCB4_000169 1/13006 1/8600 0/4406
?/? c.709-6G>A r.(=) p.(=) g.87079414C>T Copied from the Exome Variant Server ABCB4_000168 1/13006 1/8600 0/4406
?/? c.711A>T r.(=) p.(=) g.87079406T>A Copied from the Exome Variant Server ABCB4_000167 2925/13006 1571/8600 1354/4406
?/? c.712C>G r.(?) p.(Leu238Val) g.87079405G>C Copied from the Exome Variant Server ABCB4_000166 22/13006 0/8600 22/4406
?/? c.726T>G r.(?) p.(Ser242Arg) g.87079391A>C Copied from the Exome Variant Server ABCB4_000165 1/13006 1/8600 0/4406
?/? c.760G>A r.(?) p.(Ala254Thr) g.87079357C>T Copied from the Exome Variant Server ABCB4_000164 3/13006 0/8600 3/4406
?/? c.833+6G>A r.(=) p.(=) g.87079278C>T Copied from the Exome Variant Server ABCB4_000163 2/13006 0/8600 2/4406
?/? c.833+35T>C r.(=) p.(=) g.87079249A>G Copied from the Exome Variant Server ABCB4_000162 1/13006 1/8600 0/4406
?/? c.834-50A>G r.(=) p.(=) g.87076571T>C Copied from the Exome Variant Server ABCB4_000161 1/13004 0/8600 1/4404
?/? c.834-43G>A r.(=) p.(=) g.87076564C>T Copied from the Exome Variant Server ABCB4_000160 1/13004 1/8600 0/4404
?/? c.834-36T>G r.(=) p.(=) g.87076557A>C Copied from the Exome Variant Server ABCB4_000159 1/13004 0/8600 1/4404
?/? c.875A>G r.(?) p.(Lys292Arg) g.87076480T>C Copied from the Exome Variant Server ABCB4_000158 1/13006 1/8600 0/4406
?/? c.911C>A r.(?) p.(Ala304Asp) g.87076444G>T Copied from the Exome Variant Server ABCB4_000157 1/13006 0/8600 1/4406
?/? c.927T>C r.(=) p.(=) g.87076428A>G Copied from the Exome Variant Server ABCB4_000156 2/13006 2/8600 0/4406
?/? c.959C>T r.(?) p.(Ser320Phe) g.87076396G>A Copied from the Exome Variant Server ABCB4_000155 1/13006 1/8600 0/4406
?/? c.1001T>C r.(?) p.(Met334Thr) g.87076354A>G Copied from the Exome Variant Server ABCB4_000154 1/13006 0/8600 1/4406
?/? c.1005+23A>G r.(=) p.(=) g.87076327T>C Copied from the Exome Variant Server ABCB4_000153 1/13004 0/8598 1/4406
?/? c.1005+41T>G r.(=) p.(=) g.87076309A>C Copied from the Exome Variant Server ABCB4_000152 1/12998 0/8592 1/4406
?/? c.1119+28A>T r.(=) p.(=) g.87074150T>A Copied from the Exome Variant Server ABCB4_000151 1/13002 1/8596 0/4406
?/? c.1120-51G>T r.(=) p.(=) g.87073140C>A Copied from the Exome Variant Server ABCB4_000150 48/13006 1/8600 47/4406
?/? c.1143A>G r.(=) p.(=) g.87073066T>C Copied from the Exome Variant Server ABCB4_000149 1/13006 1/8600 0/4406
?/? c.1230+18T>C r.(=) p.(=) g.87072961A>G Copied from the Exome Variant Server ABCB4_000148 1/13006 0/8600 1/4406
?/? c.1231-16C>T r.(=) p.(=) g.87072776G>A Copied from the Exome Variant Server ABCB4_000147 7/13006 7/8600 0/4406
?/? c.1240G>C r.(?) p.(Gly414Arg) g.87072751C>G Copied from the Exome Variant Server ABCB4_000146 1/13006 1/8600 0/4406
?/? c.1271C>T r.(?) p.(Thr424Met) g.87072720G>A Copied from the Exome Variant Server ABCB4_000145 2/13006 0/8600 2/4406
?/? c.1285G>A r.(?) p.(Gly429Arg) g.87072706C>T Copied from the Exome Variant Server ABCB4_000144 1/13006 0/8600 1/4406
?/? c.1288A>C r.(?) p.(Ser430Arg) g.87072703T>G Copied from the Exome Variant Server ABCB4_000143 1/13006 1/8600 0/4406
?/? c.1313C>T r.(?) p.(Thr438Met) g.87072678G>A Copied from the Exome Variant Server ABCB4_000142 2/13006 2/8600 0/4406
?/? c.1314G>A r.(=) p.(=) g.87072677C>T Copied from the Exome Variant Server ABCB4_000140 49/13006 41/8600 8/4406
?/? c.1356+26A>G r.(=) p.(=) g.87072609T>C Copied from the Exome Variant Server ABCB4_000138 145/13006 0/8600 145/4406
?/? c.1356+35A>G r.(=) p.(=) g.87072600T>C Copied from the Exome Variant Server ABCB4_000136 3/13006 0/8600 3/4406
?/? c.1357-40A>G r.(=) p.(=) g.87069758T>C Copied from the Exome Variant Server ABCB4_000141 12109/13004 7925/8600 4184/4404
?/? c.1357-17A>G r.(=) p.(=) g.87069735T>C Copied from the Exome Variant Server ABCB4_000139 1/13006 1/8600 0/4406
?/? c.1377T>C r.(=) p.(=) g.87069698A>G Copied from the Exome Variant Server ABCB4_000137 3/13006 0/8600 3/4406
?/? c.1457T>C r.(?) p.(Ile486Thr) g.87069618A>G Copied from the Exome Variant Server ABCB4_000135 1/13006 1/8600 0/4406
?/? c.1462G>C r.(?) p.(Glu488Gln) g.87069613C>G Copied from the Exome Variant Server ABCB4_000134 1/13006 1/8600 0/4406
?/? c.1529A>G r.(?) p.(Asn510Ser) g.87069546T>C Copied from the Exome Variant Server ABCB4_000133 1/13006 1/8600 0/4406
?/? c.1560+35T>C r.(=) p.(=) g.87069480A>G Copied from the Exome Variant Server ABCB4_000132 12/13006 0/8600 12/4406
?/? c.1561-5_1561-4del r.spl? p.? g.87069157_87069158del Copied from the Exome Variant Server ABCB4_000131 1/12518 1/8254 0/4264
?/? c.1578T>C r.(=) p.(=) g.87069136A>G Copied from the Exome Variant Server ABCB4_000130 1/13006 1/8600 0/4406
?/? c.1584G>C r.(?) p.(Glu528Asp) g.87069130C>G Copied from the Exome Variant Server ABCB4_000129 138/13006 0/8600 138/4406
?/? c.1592C>T r.(?) p.(Ala531Val) g.87069122G>A Copied from the Exome Variant Server ABCB4_000128 1/13006 0/8600 1/4406
?/? c.1624G>A r.(?) p.(Ala542Thr) g.87069090C>T Copied from the Exome Variant Server ABCB4_000127 2/13006 1/8600 1/4406
?/? c.1651C>A r.(?) p.(Pro551Thr) g.87069063G>T Copied from the Exome Variant Server ABCB4_000126 1/13006 1/8600 0/4406
?/? c.1687T>C r.(=) p.(=) g.87069027A>G Copied from the Exome Variant Server ABCB4_000125 2/13006 0/8600 2/4406
?/? c.1731+50A>G r.(=) p.(=) g.87068933T>C Copied from the Exome Variant Server ABCB4_000124 18/13006 0/8600 18/4406
?/? c.1732-46T>G r.(=) p.(=) g.87060927A>C Copied from the Exome Variant Server ABCB4_000123 4/13006 3/8600 1/4406
?/? c.1732-39A>G r.(=) p.(=) g.87060920T>C Copied from the Exome Variant Server ABCB4_000122 78/13006 75/8600 3/4406
?/? c.1732-37A>G r.(=) p.(=) g.87060918T>C Copied from the Exome Variant Server ABCB4_000121 1/13006 0/8600 1/4406
?/? c.1732-27T>C r.(=) p.(=) g.87060908A>G Copied from the Exome Variant Server ABCB4_000120 1/13006 1/8600 0/4406
?/? c.1767C>T r.(=) p.(=) g.87060846G>A Copied from the Exome Variant Server ABCB4_000119 1/13006 1/8600 0/4406
?/? c.1769G>A r.(?) p.(Arg590Gln) g.87060844C>T Copied from the Exome Variant Server ABCB4_000118 102/13006 74/8600 28/4406
?/? c.1779G>T r.(=) p.(=) g.87060834C>A Copied from the Exome Variant Server ABCB4_000117 1/13006 1/8600 0/4406
?/? c.1783C>A r.(=) p.(=) g.87060830G>T Copied from the Exome Variant Server ABCB4_000116 1/13006 1/8600 0/4406
?/? c.1784G>A r.(?) p.(Arg595Gln) g.87060829C>T Copied from the Exome Variant Server ABCB4_000115 2/13006 0/8600 2/4406
?/? c.1846G>A r.(?) p.(Glu616Lys) g.87060767C>T Copied from the Exome Variant Server ABCB4_000114 1/13006 1/8600 0/4406
?/? c.1858_1860del r.(?) p.(Lys620del) g.87060753_87060755del Copied from the Exome Variant Server ABCB4_000113 13/12518 5/8254 8/4264
?/? c.1869G>A r.(=) p.(=) g.87060744C>T Copied from the Exome Variant Server ABCB4_000112 1/13006 0/8600 1/4406
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