Unique variants in gene ABCB1

Information The variants shown are described using the NM_000927.4 transcript reference sequence.

256 entries on 3 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.-331+2476T>C r.(=) p.(=) g.87340001A>G Copied from the Exome Variant Server ABCB1_000255 1/12928 1/8548 0/4380
1 c.-331+12563C>T r.(=) p.(=) g.87329914G>A Copied from the Exome Variant Server ABCB1_000254 1/13006 1/8600 0/4406
1 c.-331+12577del r.(=) p.(=) g.87329900del Copied from the Exome Variant Server ABCB1_000253 90/12518 57/8254 33/4264
1 c.-331+12577dup r.(=) p.(=) g.87329900dup Copied from the Exome Variant Server ABCB1_000252 149/12518 106/8254 43/4264
1 c.-331+12584del r.(=) p.(=) g.87329893del Copied from the Exome Variant Server ABCB1_000251 1/12518 0/8254 1/4264
1 c.-331+12713C>G r.(?) p.(Ser106Thr) g.87329764G>C Copied from the Exome Variant Server ABCB1_000250 1/13006 0/8600 1/4406
1 c.-331+12746G>C r.(=) p.(=) g.87329731C>G Copied from the Exome Variant Server ABCB1_000249 1/13006 1/8600 0/4406
1 c.-331+12759G>A r.(=) p.(=) g.87329718C>T Copied from the Exome Variant Server ABCB1_000248 1/12990 1/8588 0/4402
1 c.-331+19267_-331+19268insA r.(=) p.(=) g.87323209_87323210insT Copied from the Exome Variant Server ABCB1_000247 11/12516 4/8254 7/4262
1 c.-331+19279_-331+19281del r.(=) p.(=) g.87323196_87323198del Copied from the Exome Variant Server ABCB1_000246 23/12518 19/8254 4/4264
1 c.-331+19299C>A r.(=) p.(=) g.87323178G>T Copied from the Exome Variant Server ABCB1_000245 1/13006 1/8600 0/4406
1 c.-330-49788A>G r.(?) p.(Ile56Thr) g.87280182T>C Copied from the Exome Variant Server ABCB1_000244 3/13006 2/8600 1/4406
1 c.-330-49769G>A r.(?) p.(Arg50Trp) g.87280163C>T Copied from the Exome Variant Server ABCB1_000243 1/13006 1/8600 0/4406
1 c.-330-49741A>G r.(=) p.(=) g.87280135T>C Copied from the Exome Variant Server ABCB1_000242 1/13004 0/8600 1/4404
1 c.-330-27903C>T r.(=) p.(=) g.87258297G>A Copied from the Exome Variant Server ABCB1_000241 1/12874 0/8532 1/4342
1 c.-330-27871G>T r.(=) p.(=) g.87258265C>A Copied from the Exome Variant Server ABCB1_000240 1/12960 0/8582 1/4378
1 c.-330-27815G>A r.(=) p.(=) g.87258209C>T Copied from the Exome Variant Server ABCB1_000239 2/12920 2/8558 0/4362
1 c.-330-27803C>T r.(?) p.(Gly20Ser) g.87258197G>A Copied from the Exome Variant Server ABCB1_000238 1/12878 1/8534 0/4344
1 c.-330-27775G>A r.(=) p.(=) g.87258169C>T Copied from the Exome Variant Server ABCB1_000237 12/12628 0/8378 12/4250
1 c.-330-27763del r.(?) p.(Gly8Alafs*2) g.87258157del Copied from the Exome Variant Server ABCB1_000236 81/11832 52/7844 29/3988
1 c.-6-27G>A r.(=) p.(=) g.87229533C>T Copied from the Exome Variant Server ABCB1_000235 1/13006 1/8600 0/4406
1 c.-6-21T>C r.(=) p.(=) g.87229527A>G Copied from the Exome Variant Server ABCB1_000234 1/13006 1/8600 0/4406
1 c.-6-17C>T r.(=) p.(=) g.87229523G>A Copied from the Exome Variant Server ABCB1_000233 1/13006 1/8600 0/4406
1 c.-4C>T r.(=) p.(=) g.87229504G>A Copied from the Exome Variant Server ABCB1_000232 8/13006 0/8600 8/4406
1 c.-1A>G r.(=) p.(=) g.87229501T>C Copied from the Exome Variant Server ABCB1_000256 12234/13006 7900/8600 4334/4406
1 c.6T>C r.(=) p.(=) g.87229495A>G Copied from the Exome Variant Server ABCB1_000230 1/13006 1/8600 0/4406
1 c.24T>G r.(?) p.(Asn8Lys) g.87229477A>C Copied from the Exome Variant Server ABCB1_000228 1/13006 1/8600 0/4406
1 c.42_44del r.(?) p.(Lys14del) g.87229457_87229459del Copied from the Exome Variant Server ABCB1_000226 1/12518 1/8254 0/4264
1 c.61A>G r.(?) p.(Asn21Asp) g.87229440T>C Copied from the Exome Variant Server ABCB1_000224 976/13006 857/8600 119/4406
1 c.68+40G>A r.(=) p.(=) g.87229393C>T Copied from the Exome Variant Server ABCB1_000231 1/13004 1/8600 0/4404
1 c.68+41A>C r.(=) p.(=) g.87229392T>G Copied from the Exome Variant Server ABCB1_000229 1/13004 1/8600 0/4404
1 c.68+47G>A r.(=) p.(=) g.87229386C>T Copied from the Exome Variant Server ABCB1_000227 1/13004 1/8600 0/4404
1 c.69-43T>C r.(=) p.(=) g.87225173A>G Copied from the Exome Variant Server ABCB1_000225 1/12888 0/8522 1/4366
1 c.117G>A r.(?) p.(Met39Ile) g.87225082C>T Copied from the Exome Variant Server ABCB1_000223 1/12968 1/8576 0/4392
1 c.117+34T>G r.(=) p.(=) g.87225048A>C Copied from the Exome Variant Server ABCB1_000222 2/12950 0/8550 2/4400
1 c.117+36C>T r.(=) p.(=) g.87225046G>A Copied from the Exome Variant Server ABCB1_000221 865/12954 339/8554 526/4400
1 c.117+37G>A r.(=) p.(=) g.87225045C>T Copied from the Exome Variant Server ABCB1_000220 2/12956 2/8556 0/4400
1 c.117+46A>G r.(=) p.(=) g.87225036T>C Copied from the Exome Variant Server ABCB1_000219 4/12958 0/8558 4/4400
1 c.118-40A>G r.(=) p.(=) g.87215036T>C Copied from the Exome Variant Server ABCB1_000218 6/13002 0/8598 6/4404
1 c.118-24C>T r.(=) p.(=) g.87215020G>A Copied from the Exome Variant Server ABCB1_000217 1/13006 1/8600 0/4406
1 c.233T>C r.(?) p.(Ile78Thr) g.87214881A>G Copied from the Exome Variant Server ABCB1_000216 1/13006 1/8600 0/4406
1 c.266T>C r.(?) p.(Met89Thr) g.87214848A>G Copied from the Exome Variant Server ABCB1_000215 4/13006 4/8600 0/4406
1 c.286+45A>T r.(=) p.(=) g.87214783T>A Copied from the Exome Variant Server ABCB1_000214 1/13006 0/8600 1/4406
1 c.287-32A>G r.(=) p.(=) g.87199571T>C Copied from the Exome Variant Server ABCB1_000213 1/13004 1/8598 0/4406
1 c.287-25G>T r.(=) p.(=) g.87199564C>A Copied from the Exome Variant Server ABCB1_000212 3207/13004 1694/8598 1513/4406
1 c.287-21G>A r.(=) p.(=) g.87199560C>T Copied from the Exome Variant Server ABCB1_000211 41/13004 0/8598 41/4406
1 c.318T>C r.(=) p.(=) g.87199508A>G Copied from the Exome Variant Server ABCB1_000210 1/12998 1/8592 0/4406
1 c.338+24T>C r.(=) p.(=) g.87199464A>G Copied from the Exome Variant Server ABCB1_000209 5/12994 5/8588 0/4406
1 c.338+49A>C r.(=) p.(=) g.87199439T>G Copied from the Exome Variant Server ABCB1_000208 4/12992 4/8586 0/4406
1 c.341A>T r.(?) p.(Tyr114Phe) g.87196290T>A Copied from the Exome Variant Server ABCB1_000207 1/13006 1/8600 0/4406
1 c.359G>A r.(?) p.(Gly120Glu) g.87196272C>T Copied from the Exome Variant Server ABCB1_000206 1/13006 1/8600 0/4406
1 c.380T>G r.(?) p.(Val127Gly) g.87196251A>C Copied from the Exome Variant Server ABCB1_000205 1/13006 1/8600 0/4406
1 c.431T>C r.(?) p.(Ile144Thr) g.87196200A>G Copied from the Exome Variant Server ABCB1_000204 8/13006 8/8600 0/4406
1 c.463A>G r.(?) p.(Ile155Val) g.87196168T>C Copied from the Exome Variant Server ABCB1_000203 1/13006 1/8600 0/4406
1 c.502G>A r.(?) p.(Val168Ile) g.87196129C>T Copied from the Exome Variant Server ABCB1_000202 20/13006 19/8600 1/4406
1 c.517A>C r.(?) p.(Thr173Pro) g.87196114T>G Copied from the Exome Variant Server ABCB1_000201 2/13006 2/8600 0/4406
1 c.523C>T r.(?) p.(Leu175Phe) g.87196108G>A Copied from the Exome Variant Server ABCB1_000200 1/13006 0/8600 1/4406
1 c.530+34C>T r.(=) p.(=) g.87196067G>A Copied from the Exome Variant Server ABCB1_000199 1/13006 0/8600 1/4406
1 c.531-35del r.(=) p.(=) g.87195592del Copied from the Exome Variant Server ABCB1_000198 1/12518 1/8254 0/4264
1 c.548A>G r.(?) p.(Asn183Ser) g.87195540T>C Copied from the Exome Variant Server ABCB1_000197 17/13006 16/8600 1/4406
1 c.564C>G r.(?) p.(Asp188Glu) g.87195524G>C Copied from the Exome Variant Server ABCB1_000196 2/13006 2/8600 0/4406
1 c.628C>T r.(?) p.(Arg210Cys) g.87195460G>A Copied from the Exome Variant Server ABCB1_000195 1/13006 0/8600 1/4406
1 c.664A>G r.(?) p.(Ser222Gly) g.87195424T>C Copied from the Exome Variant Server ABCB1_000194 1/13006 1/8600 0/4406
1 c.702+44C>T r.(=) p.(=) g.87195342G>A Copied from the Exome Variant Server ABCB1_000193 5/13006 1/8600 4/4406
1 c.703-39C>A r.(=) p.(=) g.87190742G>T Copied from the Exome Variant Server ABCB1_000192 1/12956 1/8588 0/4368
1 c.703-38G>A r.(=) p.(=) g.87190741C>T Copied from the Exome Variant Server ABCB1_000191 1/12974 1/8592 0/4382
1 c.703-36del r.(=) p.(=) g.87190739del Copied from the Exome Variant Server ABCB1_000190 30/12488 1/8244 29/4244
1 c.703-29del r.(=) p.(=) g.87190732del Copied from the Exome Variant Server ABCB1_000189 28/12482 4/8242 24/4240
1 c.722A>G r.(?) p.(Asp241Gly) g.87190684T>C Copied from the Exome Variant Server ABCB1_000188 1/13004 1/8600 0/4404
1 c.729A>G r.(=) p.(=) g.87190677T>C Copied from the Exome Variant Server ABCB1_000187 64/13004 60/8600 4/4404
1 c.737C>T r.(?) p.(Ala246Val) g.87190669G>A Copied from the Exome Variant Server ABCB1_000186 1/13004 0/8600 1/4404
1 c.738G>A r.(=) p.(=) g.87190668C>T Copied from the Exome Variant Server ABCB1_000185 4/13004 4/8600 0/4404
1 c.781A>G r.(?) p.(Ile261Val) g.87190625T>C Copied from the Exome Variant Server ABCB1_000184 81/13006 12/8600 69/4406
1 c.827+26A>T r.(=) p.(=) g.87190553T>A Copied from the Exome Variant Server ABCB1_000183 1/13006 1/8600 0/4406
1 c.827+41T>C r.(=) p.(=) g.87190538A>G Copied from the Exome Variant Server ABCB1_000182 1/13002 0/8596 1/4406
1 c.827+43T>C r.(=) p.(=) g.87190536A>G Copied from the Exome Variant Server ABCB1_000181 1/13002 0/8596 1/4406
1 c.828-51C>T r.(=) p.(=) g.87183299G>A Copied from the Exome Variant Server ABCB1_000180 1/13002 1/8596 0/4406
1 c.828-47_828-46del r.(=) p.(=) g.87183294_87183295del Copied from the Exome Variant Server ABCB1_000179 6/12516 0/8252 6/4264
1 c.828-14G>A r.(=) p.(=) g.87183262C>T Copied from the Exome Variant Server ABCB1_000177 2/13006 0/8600 2/4406
1 c.981T>C r.(=) p.(=) g.87183095A>G Copied from the Exome Variant Server ABCB1_000178 1/13006 1/8600 0/4406
1 c.999+46A>G r.(=) p.(=) g.87183031T>C Copied from the Exome Variant Server ABCB1_000176 1/13006 1/8600 0/4406
1 c.1000-50del r.(=) p.(=) g.87180204del Copied from the Exome Variant Server ABCB1_000175 44/12484 19/8240 25/4244
1 c.1000-50dup r.(=) p.(=) g.87180204dup Copied from the Exome Variant Server ABCB1_000174 6/12484 4/8240 2/4244
1 c.1000-44G>A r.(=) p.(=) g.87180198C>T Copied from the Exome Variant Server ABCB1_000173 8098/12998 4898/8598 3200/4400
1 c.1000-42C>T r.(=) p.(=) g.87180196G>A Copied from the Exome Variant Server ABCB1_000172 1/13000 1/8598 0/4402
1 c.1000-3C>G r.spl? p.? g.87180157G>C Copied from the Exome Variant Server ABCB1_000171 1/13006 1/8600 0/4406
1 c.1060G>A r.(?) p.(Ala354Thr) g.87180094C>T Copied from the Exome Variant Server ABCB1_000170 2/13006 2/8600 0/4406
1 c.1105A>G r.(?) p.(Ile369Val) g.87180049T>C Copied from the Exome Variant Server ABCB1_000169 2/13006 2/8600 0/4406
1 c.1113+29T>C r.(=) p.(=) g.87180012A>G Copied from the Exome Variant Server ABCB1_000168 1/13006 1/8600 0/4406
1 c.1114-40A>T r.(=) p.(=) g.87179934T>A Copied from the Exome Variant Server ABCB1_000167 1/13004 1/8598 0/4406
1 c.1114-32C>T r.(=) p.(=) g.87179926G>A Copied from the Exome Variant Server ABCB1_000166 6/13006 0/8600 6/4406
1 c.1117C>G r.(?) p.(Pro373Ala) g.87179891G>C Copied from the Exome Variant Server ABCB1_000165 1/13006 0/8600 1/4406
1 c.1131C>T r.(=) p.(=) g.87179877G>A Copied from the Exome Variant Server ABCB1_000164 1/13006 1/8600 0/4406
1 c.1188T>C r.(=) p.(=) g.87179820A>G Copied from the Exome Variant Server ABCB1_000163 1/13002 1/8596 0/4406
1 c.1193A>T r.(?) p.(His398Leu) g.87179815T>A Copied from the Exome Variant Server ABCB1_000162 2/13002 1/8596 1/4406
1 c.1199G>A r.(?) p.(Ser400Asn) g.87179809C>T Copied from the Exome Variant Server ABCB1_000161 367/13000 331/8596 36/4404
1 c.1219G>T r.(?) p.(Val407Phe) g.87179789C>A Copied from the Exome Variant Server ABCB1_000160 5/13004 3/8598 2/4406
1 c.1224+5A>T r.spl? p.? g.87179779T>A Copied from the Exome Variant Server ABCB1_000159 1/13002 0/8596 1/4406
1 c.1224+37T>C r.(=) p.(=) g.87179747A>G Copied from the Exome Variant Server ABCB1_000158 1/13002 1/8596 0/4406
1 c.1225-45T>A r.(=) p.(=) g.87179657A>T Copied from the Exome Variant Server ABCB1_000157 1/13006 1/8600 0/4406
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