Unique variants in gene ABCB8

Information The variants shown are described using the NM_007188.3 transcript reference sequence.

198 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.-43G>T r.(=) p.(=) g.150725560G>T Copied from the Exome Variant Server ABCB8_000001 1/12992 0/8592 1/4400
1 c.-21C>T r.(=) p.(=) g.150725582C>T Copied from the Exome Variant Server ABCB8_000002 1/13004 0/8600 1/4404
1 c.-20T>A r.(=) p.(=) g.150725583T>A Copied from the Exome Variant Server ABCB8_000003 1/13004 1/8600 0/4404
1 c.-8G>C r.(=) p.(=) g.150725595G>C Copied from the Exome Variant Server ABCB8_000004 4/13004 3/8600 1/4404
1 c.29T>C r.(?) p.(Ile10Thr) g.150725631T>C Copied from the Exome Variant Server ABCB8_000005 4/13006 0/8600 4/4406
1 c.34G>A r.(?) p.(Gly12Ser) g.150725636G>A Copied from the Exome Variant Server ABCB8_000006 1/13006 1/8600 0/4406
1 c.40C>T r.(?) p.(Pro14Ser) g.150725642C>T Copied from the Exome Variant Server ABCB8_000007 3/13006 2/8600 1/4406
1 c.63G>T r.(=) p.(=) g.150725665G>T Copied from the Exome Variant Server ABCB8_000008 1/13004 1/8600 0/4404
1 c.67C>G r.(?) p.(Leu23Val) g.150725669C>G Copied from the Exome Variant Server ABCB8_000009 1/13004 0/8600 1/4404
1 c.69C>T r.(=) p.(=) g.150725671C>T Copied from the Exome Variant Server ABCB8_000010 3/13006 3/8600 0/4406
1 c.95+25A>C r.(=) p.(=) g.150725722A>C Copied from the Exome Variant Server ABCB8_000011 5314/12998 3062/8598 2252/4400
1 c.95+31C>T r.(=) p.(=) g.150725728C>T Copied from the Exome Variant Server ABCB8_000012 1/12990 1/8594 0/4396
1 c.95+215T>C r.(=) p.(=) g.150725912T>C Copied from the Exome Variant Server ABCB8_000013 2/5704 0/3958 2/1746
1 c.95+265C>T r.(=) p.(=) g.150725962C>T Copied from the Exome Variant Server ABCB8_000014 1/5714 1/3968 0/1746
1 c.95+271C>T r.(=) p.(=) g.150725968C>T Copied from the Exome Variant Server ABCB8_000015 1/5712 1/3968 0/1744
1 c.95+275C>T r.(=) p.(=) g.150725972C>T Copied from the Exome Variant Server ABCB8_000016 750/5710 630/3966 120/1744
1 c.96-2375C>T r.(=) p.(=) g.150728317C>T Copied from the Exome Variant Server ABCB8_000017 1/5718 1/3970 0/1748
1 c.96-2308C>T r.(=) p.(=) g.150728384C>T Copied from the Exome Variant Server ABCB8_000018 21/5714 0/3972 21/1742
1 c.96-2303C>G r.(=) p.(=) g.150728389C>G Copied from the Exome Variant Server ABCB8_000019 1/5710 1/3970 0/1740
1 c.96-34G>T r.(=) p.(=) g.150730658G>T Copied from the Exome Variant Server ABCB8_000020 1/13004 0/8598 1/4406
1 c.96-19T>C r.(=) p.(=) g.150730673T>C Copied from the Exome Variant Server ABCB8_000021 1/13006 1/8600 0/4406
1 c.116G>A r.(?) p.(Ser39Asn) g.150730712G>A Copied from the Exome Variant Server ABCB8_000022 350/13006 10/8600 340/4406
1 c.134C>G r.(?) p.(Ala45Gly) g.150730730C>G Copied from the Exome Variant Server ABCB8_000023 1/13006 0/8600 1/4406
1 c.135C>T r.(=) p.(=) g.150730731C>T Copied from the Exome Variant Server ABCB8_000024 1/13006 1/8600 0/4406
1 c.147G>A r.(=) p.(=) g.150730743G>A Copied from the Exome Variant Server ABCB8_000025 13/13006 0/8600 13/4406
1 c.149G>A r.(?) p.(Arg50Gln) g.150730745G>A Copied from the Exome Variant Server ABCB8_000026 1/13004 1/8598 0/4406
1 c.210C>G r.(=) p.(=) g.150730806C>G Copied from the Exome Variant Server ABCB8_000027 1/13006 0/8600 1/4406
1 c.240C>T r.(=) p.(=) g.150730836C>T Copied from the Exome Variant Server ABCB8_000028 1/13006 1/8600 0/4406
1 c.267C>T r.(=) p.(=) g.150730863C>T Copied from the Exome Variant Server ABCB8_000029 1/13006 1/8600 0/4406
1 c.273C>T r.(=) p.(=) g.150730869C>T Copied from the Exome Variant Server ABCB8_000030 1/13006 1/8600 0/4406
1 c.303C>T r.(=) p.(=) g.150730899C>T Copied from the Exome Variant Server ABCB8_000031 27/13006 3/8600 24/4406
1 c.304C>T r.(?) p.(Pro102Ser) g.150730900C>T Copied from the Exome Variant Server ABCB8_000032 38/13006 35/8600 3/4406
1 c.330C>T r.(=) p.(=) g.150730926C>T Copied from the Exome Variant Server ABCB8_000033 18/13006 0/8600 18/4406
1 c.341G>A r.(?) p.(Arg114His) g.150730937G>A Copied from the Exome Variant Server ABCB8_000034 2/13006 1/8600 1/4406
1 c.370C>G r.(?) p.(Leu124Val) g.150730966C>G Copied from the Exome Variant Server ABCB8_000035 97/13006 89/8600 8/4406
1 c.376C>T r.(?) p.(Pro126Ser) g.150730972C>T Copied from the Exome Variant Server ABCB8_000036 2/13006 0/8600 2/4406
1 c.403G>A r.(?) p.(Val135Ile) g.150730999G>A Copied from the Exome Variant Server ABCB8_000037 679/13006 393/8600 286/4406
1 c.406G>A r.(?) p.(Val136Met) g.150731002G>A Copied from the Exome Variant Server ABCB8_000038 1/13006 1/8600 0/4406
1 c.408+23A>G r.(=) p.(=) g.150731027A>G Copied from the Exome Variant Server ABCB8_000039 18/13006 7/8600 11/4406
1 c.408+28G>C r.(=) p.(=) g.150731032G>C Copied from the Exome Variant Server ABCB8_000040 1/13006 1/8600 0/4406
1 c.408+33C>T r.(=) p.(=) g.150731037C>T Copied from the Exome Variant Server ABCB8_000041 1/13006 0/8600 1/4406
1 c.409-22G>C r.(=) p.(=) g.150731338G>C Copied from the Exome Variant Server ABCB8_000042 9275/13006 5274/8600 4001/4406
1 c.423G>A r.(=) p.(=) g.150731374G>A Copied from the Exome Variant Server ABCB8_000043 1/13006 0/8600 1/4406
1 c.429C>T r.(=) p.(=) g.150731380C>T Copied from the Exome Variant Server ABCB8_000044 2/13006 2/8600 0/4406
1 c.430G>A r.(?) p.(Val144Met) g.150731381G>A Copied from the Exome Variant Server ABCB8_000045 6/13006 6/8600 0/4406
1 c.472_474del r.(?) p.(Val159del) g.150731423_150731425del Copied from the Exome Variant Server ABCB8_000046 5/12518 5/8254 0/4264
1 c.474C>T r.(=) p.(=) g.150731425C>T Copied from the Exome Variant Server ABCB8_000047 50/13006 42/8600 8/4406
1 c.504_516del r.(?) p.(Phe170Profs*18) g.150731455_150731467del Copied from the Exome Variant Server ABCB8_000048 3/12518 1/8254 2/4264
1 c.521C>T r.(?) p.(Ser174Phe) g.150731472C>T Copied from the Exome Variant Server ABCB8_000049 2/13006 2/8600 0/4406
1 c.532A>C r.(?) p.(Ser178Arg) g.150731483A>C Copied from the Exome Variant Server ABCB8_000050 13/13006 0/8600 13/4406
1 c.554A>G r.(?) p.(Tyr185Cys) g.150731505A>G Copied from the Exome Variant Server ABCB8_000051 2/13006 2/8600 0/4406
1 c.557G>T r.(?) p.(Gly186Val) g.150731508G>T Copied from the Exome Variant Server ABCB8_000052 1/13006 1/8600 0/4406
1 c.564+4C>T r.spl? p.? g.150731519C>T Copied from the Exome Variant Server ABCB8_000053 241/13006 7/8600 234/4406
1 c.564+9G>A r.(=) p.(=) g.150731524G>A Copied from the Exome Variant Server ABCB8_000054 2/13006 2/8600 0/4406
1 c.564+27C>T r.(=) p.(=) g.150731542C>T Copied from the Exome Variant Server ABCB8_000055 56/13006 0/8600 56/4406
1 c.564+28G>T r.(=) p.(=) g.150731543G>T Copied from the Exome Variant Server ABCB8_000056 1/13006 0/8600 1/4406
1 c.564+30C>T r.(=) p.(=) g.150731545C>T Copied from the Exome Variant Server ABCB8_000057 3/13006 3/8600 0/4406
1 c.565-19G>A r.(=) p.(=) g.150731573G>A Copied from the Exome Variant Server ABCB8_000058 2/13006 0/8600 2/4406
1 c.565-4G>T r.spl? p.? g.150731588G>T Copied from the Exome Variant Server ABCB8_000059 8/13006 0/8600 8/4406
1 c.603C>T r.(=) p.(=) g.150731630C>T Copied from the Exome Variant Server ABCB8_000060 153/13006 2/8600 151/4406
1 c.604G>A r.(?) p.(Val202Ile) g.150731631G>A Copied from the Exome Variant Server ABCB8_000061 1/13006 1/8600 0/4406
1 c.613C>T r.(?) p.(Arg205Cys) g.150731640C>T Copied from the Exome Variant Server ABCB8_000062 2/13006 1/8600 1/4406
1 c.654G>A r.(=) p.(=) g.150731681G>A Copied from the Exome Variant Server ABCB8_000063 5/13006 5/8600 0/4406
1 c.659+12C>T r.(=) p.(=) g.150731698C>T Copied from the Exome Variant Server ABCB8_000064 1370/13006 995/8600 375/4406
1 c.659+51T>C r.(=) p.(=) g.150731737T>C Copied from the Exome Variant Server ABCB8_000065 1/13006 1/8600 0/4406
1 c.660-29C>T r.(=) p.(=) g.150731782C>T Copied from the Exome Variant Server ABCB8_000066 1/13006 0/8600 1/4406
1 c.669C>T r.(=) p.(=) g.150731820C>T Copied from the Exome Variant Server ABCB8_000067 1/13006 1/8600 0/4406
1 c.723C>T r.(=) p.(=) g.150731874C>T Copied from the Exome Variant Server ABCB8_000068 2/13006 2/8600 0/4406
1 c.754G>A r.(?) p.(Val252Ile) g.150731905G>A Copied from the Exome Variant Server ABCB8_000069 1/13006 1/8600 0/4406
1 c.765+16_765+17insC r.(=) p.(=) g.150731932_150731933insC Copied from the Exome Variant Server ABCB8_000070 1/12518 1/8254 0/4264
1 c.766-45A>G r.(=) p.(=) g.150732623A>G Copied from the Exome Variant Server ABCB8_000071 2/13002 1/8596 1/4406
1 c.766-38G>A r.(=) p.(=) g.150732630G>A Copied from the Exome Variant Server ABCB8_000072 1562/13004 526/8598 1036/4406
1 c.766-34G>A r.(=) p.(=) g.150732634G>A Copied from the Exome Variant Server ABCB8_000073 1/13004 1/8598 0/4406
1 c.766-21G>A r.(=) p.(=) g.150732647G>A Copied from the Exome Variant Server ABCB8_000074 1/13004 1/8598 0/4406
1 c.766-19C>T r.(=) p.(=) g.150732649C>T Copied from the Exome Variant Server ABCB8_000075 259/13004 240/8598 19/4406
1 c.772C>T r.(?) p.(Arg258*) g.150732674C>T Copied from the Exome Variant Server ABCB8_000076 1/13006 1/8600 0/4406
1 c.773G>A r.(?) p.(Arg258Gln) g.150732675G>A Copied from the Exome Variant Server ABCB8_000078 27/13006 26/8600 1/4406
1 c.779G>C r.(?) p.(Cys260Ser) g.150732681G>C Copied from the Exome Variant Server ABCB8_000080 1/13006 0/8600 1/4406
1 c.821C>T r.(?) p.(Ser274Leu) g.150732723C>T Copied from the Exome Variant Server ABCB8_000082 1/13006 1/8600 0/4406
1 c.885G>A r.(?) p.(Met295Ile) g.150732787G>A Copied from the Exome Variant Server ABCB8_000084 1/13006 1/8600 0/4406
1 c.907T>G r.(?) p.(Ser303Ala) g.150732809T>G Copied from the Exome Variant Server ABCB8_000086 1/13006 1/8600 0/4406
1 c.910C>T r.(?) p.(Arg304Cys) g.150732812C>T Copied from the Exome Variant Server ABCB8_000077 583/13006 508/8600 75/4406
1 c.927+5C>T r.spl? p.? g.150732834C>T Copied from the Exome Variant Server ABCB8_000079 7/13006 1/8600 6/4406
1 c.927+6G>A r.(=) p.(=) g.150732835G>A Copied from the Exome Variant Server ABCB8_000081 4/13006 0/8600 4/4406
1 c.927+20T>G r.(=) p.(=) g.150732849T>G Copied from the Exome Variant Server ABCB8_000083 13/13006 12/8600 1/4406
1 c.927+26T>C r.(=) p.(=) g.150732855T>C Copied from the Exome Variant Server ABCB8_000085 1/13006 1/8600 0/4406
1 c.927+33C>G r.(=) p.(=) g.150732862C>G Copied from the Exome Variant Server ABCB8_000087 83/13006 1/8600 82/4406
1 c.927+36C>T r.(=) p.(=) g.150732865C>T Copied from the Exome Variant Server ABCB8_000088 1/13006 1/8600 0/4406
1 c.927+42G>A r.(=) p.(=) g.150732871G>A Copied from the Exome Variant Server ABCB8_000089 1/13006 0/8600 1/4406
1 c.927+51T>C r.(=) p.(=) g.150732880T>C Copied from the Exome Variant Server ABCB8_000090 9/13006 9/8600 0/4406
1 c.928-44C>T r.(=) p.(=) g.150732925C>T Copied from the Exome Variant Server ABCB8_000091 1/13006 1/8600 0/4406
1 c.928-14T>C r.(=) p.(=) g.150732955T>C Copied from the Exome Variant Server ABCB8_000092 2/13006 2/8600 0/4406
1 c.944G>A r.(?) p.(Gly315Asp) g.150732985G>A Copied from the Exome Variant Server ABCB8_000093 1/13006 1/8600 0/4406
1 c.946G>A r.(?) p.(Val316Ile) g.150732987G>A Copied from the Exome Variant Server ABCB8_000094 2/13006 2/8600 0/4406
1 c.981G>A r.(=) p.(=) g.150733022G>A Copied from the Exome Variant Server ABCB8_000095 1/13006 0/8600 1/4406
1 c.984T>A r.(=) p.(=) g.150733025T>A Copied from the Exome Variant Server ABCB8_000096 4138/13006 2803/8600 1335/4406
1 c.990C>T r.(=) p.(=) g.150733031C>T Copied from the Exome Variant Server ABCB8_000097 1/13006 1/8600 0/4406
1 c.993C>T r.(=) p.(=) g.150733034C>T Copied from the Exome Variant Server ABCB8_000098 13/13006 12/8600 1/4406
1 c.1013+17C>T r.(=) p.(=) g.150733071C>T Copied from the Exome Variant Server ABCB8_000099 2/13006 0/8600 2/4406
1 c.1013+37_1013+39del r.(=) p.(=) g.150733091_150733093del Copied from the Exome Variant Server ABCB8_000100 11/12516 6/8254 5/4262
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