All transcript variants in gene ABCB10

Information The variants shown are described using the NM_012089.2 transcript reference sequence.

105 entries on 2 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.517+28C>G r.(=) p.(=) g.229693855G>C Copied from the Exome Variant Server ABCB10_000102 36/6350 0/4514 36/1836
?/? c.518-40C>T r.(=) p.(=) g.229685221G>A Copied from the Exome Variant Server ABCB10_000100 1/13006 0/8600 1/4406
?/? c.518-30C>A r.(=) p.(=) g.229685211G>T Copied from the Exome Variant Server ABCB10_000098 3/13006 3/8600 0/4406
?/? c.518-23T>C r.(=) p.(=) g.229685204A>G Copied from the Exome Variant Server ABCB10_000096 6/13006 6/8600 0/4406
?/? c.537G>A r.(=) p.(=) g.229685162C>T Copied from the Exome Variant Server ABCB10_000105 325/13006 1/8600 324/4406
?/? c.552C>T r.(=) p.(=) g.229685147G>A Copied from the Exome Variant Server ABCB10_000104 76/13006 0/8600 76/4406
?/? c.555C>T r.(=) p.(=) g.229685144G>A Copied from the Exome Variant Server ABCB10_000103 1/13006 1/8600 0/4406
?/? c.615G>A r.(=) p.(=) g.229685084C>T Copied from the Exome Variant Server ABCB10_000101 1/13006 1/8600 0/4406
?/? c.626A>G r.(?) p.(Asp209Gly) g.229685073T>C Copied from the Exome Variant Server ABCB10_000099 1/13006 1/8600 0/4406
?/? c.637C>T r.(?) p.(Arg213Cys) g.229685062G>A Copied from the Exome Variant Server ABCB10_000097 1/13006 0/8600 1/4406
?/? c.638G>A r.(?) p.(Arg213His) g.229685061C>T Copied from the Exome Variant Server ABCB10_000095 2/13006 0/8600 2/4406
?/? c.652C>T r.(?) p.(Leu218Phe) g.229685047G>A Copied from the Exome Variant Server ABCB10_000094 1/13006 1/8600 0/4406
?/? c.718+5C>T r.spl? p.? g.229684976G>A Copied from the Exome Variant Server ABCB10_000093 5/13006 0/8600 5/4406
?/? c.718+13C>T r.(=) p.(=) g.229684968G>A Copied from the Exome Variant Server ABCB10_000092 1/13006 1/8600 0/4406
?/? c.718+42A>T r.(=) p.(=) g.229684939T>A Copied from the Exome Variant Server ABCB10_000091 1/13006 0/8600 1/4406
?/? c.718+44A>G r.(=) p.(=) g.229684937T>C Copied from the Exome Variant Server ABCB10_000090 1/13006 1/8600 0/4406
?/? c.718+45T>C r.(=) p.(=) g.229684936A>G Copied from the Exome Variant Server ABCB10_000089 6/13006 0/8600 6/4406
?/? c.718+52T>A r.(=) p.(=) g.229684929A>T Copied from the Exome Variant Server ABCB10_000088 184/5734 0/3982 184/1752
?/? c.727A>G r.(?) p.(Ile243Val) g.229683440T>C Copied from the Exome Variant Server ABCB10_000087 1/13006 1/8600 0/4406
?/? c.787T>C r.(?) p.(Phe263Leu) g.229683380A>G Copied from the Exome Variant Server ABCB10_000086 1/13006 1/8600 0/4406
?/? c.800G>A r.(?) p.(Arg267His) g.229683367C>T Copied from the Exome Variant Server ABCB10_000085 1/13006 1/8600 0/4406
?/? c.888C>T r.(=) p.(=) g.229683279G>A Copied from the Exome Variant Server ABCB10_000084 1/13006 1/8600 0/4406
?/? c.898G>C r.(?) p.(Ala300Pro) g.229683269C>G Copied from the Exome Variant Server ABCB10_000083 2/13006 0/8600 2/4406
?/? c.903C>T r.(=) p.(=) g.229683264G>A Copied from the Exome Variant Server ABCB10_000082 4185/13006 1867/8600 2318/4406
?/? c.904G>A r.(?) p.(Val302Ile) g.229683263C>T Copied from the Exome Variant Server ABCB10_000081 1/13006 0/8600 1/4406
?/? c.920T>C r.(?) p.(Met307Thr) g.229683247A>G Copied from the Exome Variant Server ABCB10_000080 1/13006 1/8600 0/4406
?/? c.922-28C>T r.(=) p.(=) g.229678146G>A Copied from the Exome Variant Server ABCB10_000079 6/13004 5/8598 1/4406
?/? c.979A>G r.(?) p.(Ile327Val) g.229678061T>C Copied from the Exome Variant Server ABCB10_000078 1/13006 0/8600 1/4406
?/? c.1001G>A r.(?) p.(Arg334Gln) g.229678039C>T Copied from the Exome Variant Server ABCB10_000077 1/13006 1/8600 0/4406
?/? c.1008A>G r.(=) p.(=) g.229678032T>C Copied from the Exome Variant Server ABCB10_000076 1/13006 1/8600 0/4406
?/? c.1010G>A r.(?) p.(Arg337Gln) g.229678030C>T Copied from the Exome Variant Server ABCB10_000075 2/13006 2/8600 0/4406
?/? c.1022A>C r.(?) p.(Lys341Thr) g.229678018T>G Copied from the Exome Variant Server ABCB10_000074 3/13006 0/8600 3/4406
?/? c.1056+21G>A r.(=) p.(=) g.229677963C>T Copied from the Exome Variant Server ABCB10_000073 8/13006 0/8600 8/4406
?/? c.1056+43G>A r.(=) p.(=) g.229677941C>T Copied from the Exome Variant Server ABCB10_000072 1/13006 1/8600 0/4406
?/? c.1057-32C>T r.(=) p.(=) g.229676531G>A Copied from the Exome Variant Server ABCB10_000071 1/13002 1/8598 0/4404
?/? c.1152A>T r.(=) p.(=) g.229676404T>A Copied from the Exome Variant Server ABCB10_000070 4/13006 4/8600 0/4406
?/? c.1180G>A r.(?) p.(Ala394Thr) g.229676376C>T Copied from the Exome Variant Server ABCB10_000069 1/13006 1/8600 0/4406
?/? c.1183C>T r.(?) p.(Arg395Trp) g.229676373G>A Copied from the Exome Variant Server ABCB10_000068 1/13006 0/8600 1/4406
?/? c.1203A>T r.(=) p.(=) g.229676353T>A Copied from the Exome Variant Server ABCB10_000067 1/13006 1/8600 0/4406
?/? c.1203+33G>A r.(=) p.(=) g.229676320C>T Copied from the Exome Variant Server ABCB10_000066 1/13006 1/8600 0/4406
?/? c.1204-5G>A r.spl? p.? g.229675343C>T Copied from the Exome Variant Server ABCB10_000065 637/13006 38/8600 599/4406
?/? c.1254G>C r.(=) p.(=) g.229675288C>G Copied from the Exome Variant Server ABCB10_000064 1/13006 0/8600 1/4406
?/? c.1270G>C r.(?) p.(Ala424Pro) g.229675272C>G Copied from the Exome Variant Server ABCB10_000062 1/13006 1/8600 0/4406
?/? c.1277T>G r.(?) p.(Met426Arg) g.229675265A>C Copied from the Exome Variant Server ABCB10_000060 1/13006 0/8600 1/4406
?/? c.1281C>T r.(=) p.(=) g.229675261G>A Copied from the Exome Variant Server ABCB10_000058 1/13006 1/8600 0/4406
?/? c.1306A>G r.(?) p.(Met436Val) g.229675236T>C Copied from the Exome Variant Server ABCB10_000056 1/13006 1/8600 0/4406
?/? c.1339+51C>T r.(=) p.(=) g.229675152G>A Copied from the Exome Variant Server ABCB10_000054 1/13004 1/8600 0/4404
?/? c.1340-25_1340-24insT r.(=) p.(=) g.229667502_229667503insA Copied from the Exome Variant Server ABCB10_000052 2/12520 0/8254 2/4266
?/? c.1340-13T>C r.(=) p.(=) g.229667491A>G Copied from the Exome Variant Server ABCB10_000050 33/13006 0/8600 33/4406
?/? c.1358C>T r.(?) p.(Ser453Leu) g.229667460G>A Copied from the Exome Variant Server ABCB10_000048 2/13006 1/8600 1/4406
?/? c.1410G>A r.(=) p.(=) g.229667408C>T Copied from the Exome Variant Server ABCB10_000046 1/13006 1/8600 0/4406
?/? c.1414G>C r.(?) p.(Glu472Gln) g.229667404C>G Copied from the Exome Variant Server ABCB10_000044 1/13006 1/8600 0/4406
?/? c.1434C>A r.(?) p.(Asn478Lys) g.229667384G>T Copied from the Exome Variant Server ABCB10_000042 68/13006 6/8600 62/4406
?/? c.1436-12T>A r.(=) p.(=) g.229666167A>T Copied from the Exome Variant Server ABCB10_000040 1/13006 1/8600 0/4406
?/? c.1441G>A r.(?) p.(Val481Ile) g.229666150C>T Copied from the Exome Variant Server ABCB10_000063 4/13006 4/8600 0/4406
?/? c.1483A>G r.(?) p.(Lys495Glu) g.229666108T>C Copied from the Exome Variant Server ABCB10_000061 4/13006 0/8600 4/4406
?/? c.1519G>A r.(?) p.(Val507Met) g.229666072C>T Copied from the Exome Variant Server ABCB10_000059 1/13006 1/8600 0/4406
?/? c.1549A>G r.(?) p.(Ile517Val) g.229666042T>C Copied from the Exome Variant Server ABCB10_000057 2/13006 2/8600 0/4406
?/? c.1554G>A r.(=) p.(=) g.229666037C>T Copied from the Exome Variant Server ABCB10_000055 56/13006 53/8600 3/4406
?/? c.1568C>T r.(?) p.(Thr523Met) g.229666023G>A Copied from the Exome Variant Server ABCB10_000053 2/13002 1/8596 1/4406
?/? c.1572A>C r.(=) p.(=) g.229666019T>G Copied from the Exome Variant Server ABCB10_000051 4/13002 3/8596 1/4406
?/? c.1573C>T r.(=) p.(=) g.229666018G>A Copied from the Exome Variant Server ABCB10_000049 8/13006 0/8600 8/4406
?/? c.1603A>G r.(?) p.(Thr535Ala) g.229665988T>C Copied from the Exome Variant Server ABCB10_000047 1/13006 1/8600 0/4406
?/? c.1632C>T r.(=) p.(=) g.229665959G>A Copied from the Exome Variant Server ABCB10_000045 2/13006 0/8600 2/4406
?/? c.1633G>A r.(?) p.(Asp545Asn) g.229665958C>T Copied from the Exome Variant Server ABCB10_000043 123/13006 108/8600 15/4406
?/? c.1645+17A>G r.(=) p.(=) g.229665929T>C Copied from the Exome Variant Server ABCB10_000041 70/13006 62/8600 8/4406
?/? c.1645+27C>T r.(=) p.(=) g.229665919G>A Copied from the Exome Variant Server ABCB10_000039 1/13006 0/8600 1/4406
?/? c.1645+40C>T r.(=) p.(=) g.229665906G>A Copied from the Exome Variant Server ABCB10_000038 1/13006 1/8600 0/4406
?/? c.1645+43G>A r.(=) p.(=) g.229665903C>T Copied from the Exome Variant Server ABCB10_000037 7/13006 7/8600 0/4406
?/? c.1646-30G>A r.(=) p.(=) g.229663085C>T Copied from the Exome Variant Server ABCB10_000036 1/12970 1/8570 0/4400
?/? c.1646-14_1646-10del r.(=) p.(=) g.229663065_229663069del Copied from the Exome Variant Server ABCB10_000035 12231/12292 8021/8070 4210/4222
?/? c.1676G>A r.(?) p.(Arg559His) g.229663025C>T Copied from the Exome Variant Server ABCB10_000033 1/13006 1/8600 0/4406
?/? c.1722T>A r.(?) p.(Ser574Arg) g.229662979A>T Copied from the Exome Variant Server ABCB10_000031 1/13006 0/8600 1/4406
?/? c.1726-43A>C r.(=) p.(=) g.229661906T>G Copied from the Exome Variant Server ABCB10_000029 2/13006 0/8600 2/4406
?/? c.1726-27G>A r.(=) p.(=) g.229661890C>T Copied from the Exome Variant Server ABCB10_000027 1/13006 0/8600 1/4406
?/? c.1726-7T>A r.(=) p.(=) g.229661870A>T Copied from the Exome Variant Server ABCB10_000025 3/13006 3/8600 0/4406
?/? c.1865G>C r.(?) p.(Gly622Ala) g.229661724C>G Copied from the Exome Variant Server ABCB10_000023 1/13006 1/8600 0/4406
?/? c.1890G>T r.(?) p.(Lys630Asn) g.229661699C>A Copied from the Exome Variant Server ABCB10_000021 2/13006 2/8600 0/4406
?/? c.1906+15T>C r.(=) p.(=) g.229661668A>G Copied from the Exome Variant Server ABCB10_000019 1/13006 1/8600 0/4406
?/? c.1906+39C>A r.(=) p.(=) g.229661644G>T Copied from the Exome Variant Server ABCB10_000034 1/13006 1/8600 0/4406
?/? c.1906+47C>G r.(=) p.(=) g.229661636G>C Copied from the Exome Variant Server ABCB10_000032 1/13006 0/8600 1/4406
?/? c.1907-33A>G r.(=) p.(=) g.229657415T>C Copied from the Exome Variant Server ABCB10_000030 6/13002 0/8600 6/4402
?/? c.1950+13C>T r.(=) p.(=) g.229657326G>A Copied from the Exome Variant Server ABCB10_000028 14/13006 12/8600 2/4406
?/? c.1950+29T>C r.(=) p.(=) g.229657310A>G Copied from the Exome Variant Server ABCB10_000026 8/13006 8/8600 0/4406
?/? c.1950+34T>G r.(=) p.(=) g.229657305A>C Copied from the Exome Variant Server ABCB10_000024 1/13006 0/8600 1/4406
?/? c.1950+37G>T r.(=) p.(=) g.229657302C>A Copied from the Exome Variant Server ABCB10_000022 2/13006 0/8600 2/4406
?/? c.1951-48T>A r.(=) p.(=) g.229654670A>T Copied from the Exome Variant Server ABCB10_000020 34/12822 32/8524 2/4298
?/? c.1951-27A>G r.(=) p.(=) g.229654649T>C Copied from the Exome Variant Server ABCB10_000018 45/12952 0/8572 45/4380
?/? c.1951-8T>A r.(=) p.(=) g.229654630A>T Copied from the Exome Variant Server ABCB10_000017 2/12988 2/8592 0/4396
?/? c.1957A>G r.(?) p.(Lys653Glu) g.229654616T>C Copied from the Exome Variant Server ABCB10_000016 1/13004 1/8598 0/4406
?/? c.1968C>G r.(=) p.(=) g.229654605G>C Copied from the Exome Variant Server ABCB10_000015 62/13004 1/8598 61/4406
?/? c.1986-40C>T r.(=) p.(=) g.229654197G>A Copied from the Exome Variant Server ABCB10_000014 1/13004 1/8600 0/4404
?/? c.1986-36C>T r.(=) p.(=) g.229654193G>A Copied from the Exome Variant Server ABCB10_000013 3/13004 3/8600 0/4404
?/? c.1986-35G>A r.(=) p.(=) g.229654192C>T Copied from the Exome Variant Server ABCB10_000012 2/13006 0/8600 2/4406
?/? c.1986-33C>A r.(=) p.(=) g.229654190G>T Copied from the Exome Variant Server ABCB10_000011 1/13006 1/8600 0/4406
?/? c.2000A>G r.(?) p.(Glu667Gly) g.229654143T>C Copied from the Exome Variant Server ABCB10_000010 1/13006 0/8600 1/4406
?/? c.2023G>A r.(?) p.(Ala675Thr) g.229654120C>T Copied from the Exome Variant Server ABCB10_000009 1/13006 1/8600 0/4406
?/? c.2038_2039insCTGA r.(?) p.(Met680Thrfs*18) g.229654104_229654105insTCAG Copied from the Exome Variant Server ABCB10_000008 1/12520 1/8254 0/4266
?/? c.2090A>G r.(?) p.(Asn697Ser) g.229654053T>C Copied from the Exome Variant Server ABCB10_000007 299/13006 272/8600 27/4406
?/? c.2132A>C r.(?) p.(Glu711Ala) g.229654011T>G Copied from the Exome Variant Server ABCB10_000006 1/13000 1/8594 0/4406
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