Unique variants in gene ABCB6

Information The variants shown are described using the NM_005689.2 transcript reference sequence.

193 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.-37C>T r.(=) p.(=) g.220083432G>A Copied from the Exome Variant Server ABCB6_000193 1/11970 0/7960 1/4010
1 c.117G>A r.(=) p.(=) g.220083279C>T Copied from the Exome Variant Server ABCB6_000192 9871/12988 7716/8586 2155/4402
1 c.275C>T r.(?) p.(Ala92Val) g.220083121G>A Copied from the Exome Variant Server ABCB6_000191 3/12792 3/8464 0/4328
1 c.294C>G r.(=) p.(=) g.220083102G>C Copied from the Exome Variant Server ABCB6_000190 12/12918 0/8544 12/4374
1 c.318T>C r.(=) p.(=) g.220083078A>G Copied from the Exome Variant Server ABCB6_000189 1/12996 0/8594 1/4402
1 c.346C>T r.(=) p.(=) g.220083050G>A Copied from the Exome Variant Server ABCB6_000188 1/12992 0/8586 1/4406
1 c.373C>T r.(?) p.(Leu125Phe) g.220083023G>A Copied from the Exome Variant Server ABCB6_000187 1/12986 0/8584 1/4402
1 c.376del r.(?) p.(Val126Serfs*124) g.220083020del Copied from the Exome Variant Server ABCB6_000186 4/12502 0/8240 4/4262
1 c.386G>A r.(?) p.(Arg129Gln) g.220083010C>T Copied from the Exome Variant Server ABCB6_000185 2/13004 2/8598 0/4406
1 c.439A>G r.(?) p.(Ser147Gly) g.220082957T>C Copied from the Exome Variant Server ABCB6_000184 2/13006 2/8600 0/4406
1 c.453G>C r.(=) p.(=) g.220082943C>G Copied from the Exome Variant Server ABCB6_000183 1/13006 1/8600 0/4406
1 c.470C>T r.(?) p.(Ala157Val) g.220082926G>A Copied from the Exome Variant Server ABCB6_000182 1/13006 1/8600 0/4406
1 c.486C>T r.(=) p.(=) g.220082910G>A Copied from the Exome Variant Server ABCB6_000181 1/13006 1/8600 0/4406
1 c.490G>A r.(?) p.(Ala164Thr) g.220082906C>T Copied from the Exome Variant Server ABCB6_000180 9/13006 3/8600 6/4406
1 c.503G>A r.(?) p.(Trp168*) g.220082893C>T Copied from the Exome Variant Server ABCB6_000179 1/13006 0/8600 1/4406
1 c.549+32T>C r.(=) p.(=) g.220082815A>G Copied from the Exome Variant Server ABCB6_000178 1/13004 1/8598 0/4406
1 c.550-14_550-13insA r.(=) p.(=) g.220082542_220082543insT Copied from the Exome Variant Server ABCB6_000177 1/12520 0/8254 1/4266
1 c.550-1G>C r.spl? p.? g.220082530C>G Copied from the Exome Variant Server ABCB6_000176 1/13006 0/8600 1/4406
1 c.574C>T r.(?) p.(Arg192Trp) g.220082505G>A Copied from the Exome Variant Server ABCB6_000175 21/13006 21/8600 0/4406
1 c.575G>A r.(?) p.(Arg192Gln) g.220082504C>T Copied from the Exome Variant Server ABCB6_000174 39/13006 36/8600 3/4406
1 c.589G>A r.(?) p.(Gly197Arg) g.220082490C>T Copied from the Exome Variant Server ABCB6_000173 1/13006 1/8600 0/4406
1 c.622G>A r.(?) p.(Gly208Arg) g.220082457C>T Copied from the Exome Variant Server ABCB6_000172 1/13006 1/8600 0/4406
1 c.628C>T r.(?) p.(Arg210Cys) g.220082451G>A Copied from the Exome Variant Server ABCB6_000171 1/13006 1/8600 0/4406
1 c.633C>T r.(=) p.(=) g.220082446G>A Copied from the Exome Variant Server ABCB6_000170 1/13006 0/8600 1/4406
1 c.659A>T r.(?) p.(Glu220Val) g.220082420T>A Copied from the Exome Variant Server ABCB6_000168 6/13006 6/8600 0/4406
1 c.684C>G r.(?) p.(Ser228Arg) g.220082395G>C Copied from the Exome Variant Server ABCB6_000166 1/13006 1/8600 0/4406
1 c.687+7C>A r.(=) p.(=) g.220082385G>T Copied from the Exome Variant Server ABCB6_000164 1/13006 0/8600 1/4406
1 c.687+10A>G r.(=) p.(=) g.220082382T>C Copied from the Exome Variant Server ABCB6_000162 1/13006 0/8600 1/4406
1 c.687+31A>T r.(=) p.(=) g.220082361T>A Copied from the Exome Variant Server ABCB6_000160 1/13006 1/8600 0/4406
1 c.687+32C>T r.(=) p.(=) g.220082360G>A Copied from the Exome Variant Server ABCB6_000158 1/13006 0/8600 1/4406
1 c.688-29C>T r.(=) p.(=) g.220081583G>A Copied from the Exome Variant Server ABCB6_000156 1/12982 1/8592 0/4390
1 c.688-17G>A r.(=) p.(=) g.220081571C>T Copied from the Exome Variant Server ABCB6_000169 1/12994 1/8592 0/4402
1 c.688-11C>T r.(=) p.(=) g.220081565G>A Copied from the Exome Variant Server ABCB6_000167 1/13000 0/8596 1/4404
1 c.688-9C>T r.(=) p.(=) g.220081563G>A Copied from the Exome Variant Server ABCB6_000165 46/13002 0/8598 46/4404
1 c.717G>A r.(?) p.(Trp239*) g.220081525C>T Copied from the Exome Variant Server ABCB6_000163 1/13006 1/8600 0/4406
1 c.766C>T r.(?) p.(Arg256*) g.220081476G>A Copied from the Exome Variant Server ABCB6_000161 1/13004 0/8600 1/4404
1 c.781C>T r.(=) p.(=) g.220081461G>A Copied from the Exome Variant Server ABCB6_000159 1/13000 0/8598 1/4402
1 c.787C>G r.(?) p.(Leu263Val) g.220081455G>C Copied from the Exome Variant Server ABCB6_000157 1/13000 1/8598 0/4402
1 c.826C>T r.(?) p.(Arg276Trp) g.220081416G>A Copied from the Exome Variant Server ABCB6_000155 131/12998 114/8594 17/4404
1 c.847C>T r.(?) p.(Pro283Ser) g.220081395G>A Copied from the Exome Variant Server ABCB6_000154 1/12948 0/8572 1/4376
1 c.868+7A>T r.(=) p.(=) g.220081367T>A Copied from the Exome Variant Server ABCB6_000153 1/12826 0/8490 1/4336
1 c.868+40A>G r.(=) p.(=) g.220081334T>C Copied from the Exome Variant Server ABCB6_000152 1/12724 0/8432 1/4292
1 c.869-24G>A r.(=) p.(=) g.220081211C>T Copied from the Exome Variant Server ABCB6_000151 2/13002 2/8600 0/4402
1 c.873C>T r.(=) p.(=) g.220081183G>A Copied from the Exome Variant Server ABCB6_000150 1/13006 1/8600 0/4406
1 c.885G>A r.(=) p.(=) g.220081171C>T Copied from the Exome Variant Server ABCB6_000149 1/13006 1/8600 0/4406
1 c.904C>G r.(?) p.(Leu302Val) g.220081152G>C Copied from the Exome Variant Server ABCB6_000148 2/13006 0/8600 2/4406
1 c.920C>G r.(?) p.(Thr307Ser) g.220081136G>C Copied from the Exome Variant Server ABCB6_000147 1/13006 1/8600 0/4406
1 c.937A>G r.(?) p.(Lys313Glu) g.220081119T>C Copied from the Exome Variant Server ABCB6_000146 1/13006 0/8600 1/4406
1 c.971-25T>C r.(=) p.(=) g.220080927A>G Copied from the Exome Variant Server ABCB6_000145 1/12982 1/8588 0/4394
1 c.971-19G>A r.(=) p.(=) g.220080921C>T Copied from the Exome Variant Server ABCB6_000144 1/12984 1/8588 0/4396
1 c.975C>T r.(=) p.(=) g.220080898G>A Copied from the Exome Variant Server ABCB6_000143 1/12986 1/8590 0/4396
1 c.994T>C r.(?) p.(Phe332Leu) g.220080879A>G Copied from the Exome Variant Server ABCB6_000142 2/12982 0/8588 2/4394
1 c.1028G>A r.(?) p.(Arg343Gln) g.220080845C>T Copied from the Exome Variant Server ABCB6_000141 634/12978 10/8592 624/4386
1 c.1072C>G r.(?) p.(Leu358Val) g.220080801G>C Copied from the Exome Variant Server ABCB6_000140 1/12992 1/8592 0/4400
1 c.1112G>A r.(?) p.(Arg371Gln) g.220080761C>T Copied from the Exome Variant Server ABCB6_000139 3/13000 1/8596 2/4404
1 c.1116C>T r.(=) p.(=) g.220080757G>A Copied from the Exome Variant Server ABCB6_000138 1/13004 0/8600 1/4404
1 c.1131A>G r.(=) p.(=) g.220080742T>C Copied from the Exome Variant Server ABCB6_000137 1/12998 1/8594 0/4404
1 c.1154+5C>T r.spl? p.? g.220080714G>A Copied from the Exome Variant Server ABCB6_000136 1/12976 1/8580 0/4396
1 c.1155-44C>G r.(=) p.(=) g.220079848G>C Copied from the Exome Variant Server ABCB6_000135 1/13006 1/8600 0/4406
1 c.1155-42A>G r.(=) p.(=) g.220079846T>C Copied from the Exome Variant Server ABCB6_000134 1/13006 0/8600 1/4406
1 c.1243C>T r.(?) p.(Leu415Phe) g.220079716G>A Copied from the Exome Variant Server ABCB6_000133 1/13006 1/8600 0/4406
1 c.1248T>A r.(=) p.(=) g.220079711A>T Copied from the Exome Variant Server ABCB6_000132 2/13006 2/8600 0/4406
1 c.1273C>G r.(?) p.(Leu425Val) g.220079686G>C Copied from the Exome Variant Server ABCB6_000131 11/13006 0/8600 11/4406
1 c.1276+13G>A r.(=) p.(=) g.220079670C>T Copied from the Exome Variant Server ABCB6_000130 1/13006 1/8600 0/4406
1 c.1276+40A>C r.(=) p.(=) g.220079643T>G Copied from the Exome Variant Server ABCB6_000129 22/13004 20/8598 2/4406
1 c.1277-14C>G r.(=) p.(=) g.220079234G>C Copied from the Exome Variant Server ABCB6_000128 2/13006 2/8600 0/4406
1 c.1278C>A r.(=) p.(=) g.220079219G>T Copied from the Exome Variant Server ABCB6_000127 1/13006 0/8600 1/4406
1 c.1285A>G r.(?) p.(Ile429Val) g.220079212T>C Copied from the Exome Variant Server ABCB6_000126 2/13006 2/8600 0/4406
1 c.1293C>T r.(=) p.(=) g.220079204G>A Copied from the Exome Variant Server ABCB6_000125 1/13006 0/8600 1/4406
1 c.1340A>G r.(?) p.(Asn447Ser) g.220079157T>C Copied from the Exome Variant Server ABCB6_000124 1/13006 1/8600 0/4406
1 c.1359A>G r.(=) p.(=) g.220079138T>C Copied from the Exome Variant Server ABCB6_000123 1/13006 1/8600 0/4406
1 c.1361T>C r.(?) p.(Val454Ala) g.220079136A>G Copied from the Exome Variant Server ABCB6_000122 4/13006 2/8600 2/4406
1 c.1370T>C r.(?) p.(Leu457Pro) g.220079127A>G Copied from the Exome Variant Server ABCB6_000121 1/13006 1/8600 0/4406
1 c.1386+14C>T r.(=) p.(=) g.220079097G>A Copied from the Exome Variant Server ABCB6_000120 1/13006 0/8600 1/4406
1 c.1386+15G>A r.(=) p.(=) g.220079096C>T Copied from the Exome Variant Server ABCB6_000118 129/13006 6/8600 123/4406
1 c.1386+33C>T r.(=) p.(=) g.220079078G>A Copied from the Exome Variant Server ABCB6_000116 5/13006 1/8600 4/4406
1 c.1387-62_1387-60del r.(=) p.(=) g.220078968_220078970del Copied from the Exome Variant Server ABCB6_000114 2/12518 1/8254 1/4264
1 c.1387-52C>T r.(=) p.(=) g.220078960G>A Copied from the Exome Variant Server ABCB6_000112 1/7272 1/4618 0/2654
1 c.1387-51G>A r.(=) p.(=) g.220078959C>T Copied from the Exome Variant Server ABCB6_000110 1/13006 0/8600 1/4406
1 c.1387-11G>A r.(=) p.(=) g.220078919C>T Copied from the Exome Variant Server ABCB6_000108 1/13006 1/8600 0/4406
1 c.1401C>T r.(=) p.(=) g.220078894G>A Copied from the Exome Variant Server ABCB6_000106 2/13006 2/8600 0/4406
1 c.1404C>T r.(=) p.(=) g.220078891G>A Copied from the Exome Variant Server ABCB6_000119 1/13006 0/8600 1/4406
1 c.1413C>T r.(=) p.(=) g.220078882G>A Copied from the Exome Variant Server ABCB6_000117 2/13006 2/8600 0/4406
1 c.1423C>T r.(?) p.(Arg475Cys) g.220078872G>A Copied from the Exome Variant Server ABCB6_000115 4/13006 0/8600 4/4406
1 c.1452+25C>T r.(=) p.(=) g.220078818G>A Copied from the Exome Variant Server ABCB6_000113 3/13006 2/8600 1/4406
1 c.1452+46G>C r.(=) p.(=) g.220078797C>G Copied from the Exome Variant Server ABCB6_000111 2/13006 2/8600 0/4406
1 c.1453-10T>C r.(=) p.(=) g.220078683A>G Copied from the Exome Variant Server ABCB6_000109 1/13006 1/8600 0/4406
1 c.1453-2A>G r.spl? p.? g.220078675T>C Copied from the Exome Variant Server ABCB6_000107 1/13006 0/8600 1/4406
1 c.1474G>A r.(?) p.(Ala492Thr) g.220078652C>T Copied from the Exome Variant Server ABCB6_000105 85/13006 78/8600 7/4406
1 c.1485T>C r.(=) p.(=) g.220078641A>G Copied from the Exome Variant Server ABCB6_000104 1/13006 1/8600 0/4406
1 c.1515T>A r.(=) p.(=) g.220078611A>T Copied from the Exome Variant Server ABCB6_000103 1/13006 1/8600 0/4406
1 c.1521C>A r.(=) p.(=) g.220078605G>T Copied from the Exome Variant Server ABCB6_000102 1/13006 1/8600 0/4406
1 c.1531G>A r.(?) p.(Ala511Thr) g.220078595C>T Copied from the Exome Variant Server ABCB6_000101 7/13006 1/8600 6/4406
1 c.1534G>A r.(?) p.(Gly512Ser) g.220078592C>T Copied from the Exome Variant Server ABCB6_000100 1/13006 0/8600 1/4406
1 c.1537T>C r.(?) p.(Ser513Pro) g.220078589A>G Copied from the Exome Variant Server ABCB6_000099 1/13006 0/8600 1/4406
1 c.1548C>T r.(=) p.(=) g.220078578G>A Copied from the Exome Variant Server ABCB6_000098 1/13006 0/8600 1/4406
1 c.1561A>G r.(?) p.(Thr521Ala) g.220078565T>C Copied from the Exome Variant Server ABCB6_000097 2/13006 2/8600 0/4406
1 c.1562C>G r.(?) p.(Thr521Ser) g.220078564G>C Copied from the Exome Variant Server ABCB6_000096 107/13006 34/8600 73/4406
1 c.1578+52A>G r.(=) p.(=) g.220078496T>C Copied from the Exome Variant Server ABCB6_000095 5605/5734 3978/3982 1627/1752
1 c.1579-40A>C r.(=) p.(=) g.220078428T>G Copied from the Exome Variant Server ABCB6_000094 3/13006 0/8600 3/4406
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