Unique variants in gene ACSL4

Information The variants shown are described using the NM_004458.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.-9-138C>T r.(=) p.(=) g.108926739G>A Copied from the Exome Variant Server ACSL4_000075 1/10519 1/6710 0/3809
1 c.-9-69C>G r.(=) p.(=) g.108926670G>C Copied from the Exome Variant Server ACSL4_000073 1/10561 0/6726 1/3835
1 c.-9-43C>T r.(=) p.(=) g.108926644G>A Copied from the Exome Variant Server ACSL4_000071 38/10560 0/6725 38/3835
1 c.-3G>A r.(=) p.(=) g.108926595C>T Copied from the Exome Variant Server ACSL4_000069 2/10563 1/6728 1/3835
1 c.229-48A>G r.(=) p.(=) g.108926173T>C Copied from the Exome Variant Server ACSL4_000067 4/10535 4/6705 0/3830
1 c.245A>T r.(?) p.(Tyr82Phe) g.108926109T>A Copied from the Exome Variant Server ACSL4_000080 1/10562 1/6727 0/3835
1 c.246T>C r.(=) p.(=) g.108926108A>G Copied from the Exome Variant Server ACSL4_000079 1/10562 0/6727 1/3835
1 c.303C>T r.(=) p.(=) g.108926051G>A Copied from the Exome Variant Server ACSL4_000078 1/10563 1/6728 0/3835
1 c.333C>T r.(=) p.(=) g.108926021G>A Copied from the Exome Variant Server ACSL4_000077 1/10563 1/6728 0/3835
1 c.360C>T r.(=) p.(=) g.108925994G>A Copied from the Exome Variant Server ACSL4_000076 5/10563 0/6728 5/3835
1 c.363A>G r.(=) p.(=) g.108925991T>C Copied from the Exome Variant Server ACSL4_000074 7/10563 0/6728 7/3835
1 c.398A>G r.(?) p.(Asn133Ser) g.108925956T>C Copied from the Exome Variant Server ACSL4_000072 1/10563 0/6728 1/3835
1 c.406+12G>A r.(=) p.(=) g.108925936C>T Copied from the Exome Variant Server ACSL4_000070 1/10563 0/6728 1/3835
1 c.406+27G>T r.(=) p.(=) g.108925921C>A Copied from the Exome Variant Server ACSL4_000068 220/10563 1/6728 219/3835
1 c.406+28_406+29insG r.(=) p.(=) g.108925919_108925920insC Copied from the Exome Variant Server ACSL4_000066 1/10205 0/6484 1/3721
1 c.406+33G>A r.(=) p.(=) g.108925915C>T Copied from the Exome Variant Server ACSL4_000065 80/10563 0/6728 80/3835
1 c.406+46T>C r.(=) p.(=) g.108925902A>G Copied from the Exome Variant Server ACSL4_000064 2/10563 2/6728 0/3835
1 c.407-15_407-11del r.(=) p.(=) g.108924615_108924619del Copied from the Exome Variant Server ACSL4_000063 1/10168 0/6467 1/3701
1 c.407-5T>C r.spl? p.? g.108924609A>G Copied from the Exome Variant Server ACSL4_000062 1/10552 1/6718 0/3834
1 c.436G>A r.(?) p.(Glu146Lys) g.108924575C>T Copied from the Exome Variant Server ACSL4_000061 1/10560 1/6726 0/3834
1 c.449A>G r.(?) p.(His150Arg) g.108924562T>C Copied from the Exome Variant Server ACSL4_000060 1/10560 0/6726 1/3834
1 c.458A>G r.(?) p.(Asn153Ser) g.108924553T>C Copied from the Exome Variant Server ACSL4_000059 2/10560 2/6726 0/3834
1 c.516+35G>A r.(=) p.(=) g.108924460C>T Copied from the Exome Variant Server ACSL4_000058 9/10562 0/6728 9/3834
1 c.517-49G>A r.(=) p.(=) g.108924414C>T Copied from the Exome Variant Server ACSL4_000057 1/10550 0/6724 1/3826
1 c.517-16_517-15insT r.(=) p.(=) g.108924380_108924381insA Copied from the Exome Variant Server ACSL4_000056 393/10198 68/6480 325/3718
1 c.517-16_517-15insTT r.(=) p.(=) g.108924380_108924381insAA Copied from the Exome Variant Server ACSL4_000055 8/10198 3/6480 5/3718
1 c.528A>G r.(=) p.(=) g.108924354T>C Copied from the Exome Variant Server ACSL4_000054 1/10561 0/6726 1/3835
1 c.548A>T r.(?) p.(His183Leu) g.108924334T>A Copied from the Exome Variant Server ACSL4_000053 1/10563 0/6728 1/3835
1 c.614G>A r.(?) p.(Ser205Asn) g.108924268C>T Copied from the Exome Variant Server ACSL4_000052 1/10563 1/6728 0/3835
1 c.639A>C r.(=) p.(=) g.108924243T>G Copied from the Exome Variant Server ACSL4_000051 1/10563 1/6728 0/3835
1 c.655+42G>A r.(=) p.(=) g.108924185C>T Copied from the Exome Variant Server ACSL4_000050 1/10556 1/6724 0/3832
1 c.656-35G>T r.(=) p.(=) g.108921679C>A Copied from the Exome Variant Server ACSL4_000049 1/10563 1/6728 0/3835
1 c.656-31T>C r.(=) p.(=) g.108921675A>G Copied from the Exome Variant Server ACSL4_000048 5/10563 5/6728 0/3835
1 c.681G>A r.(=) p.(=) g.108921619C>T Copied from the Exome Variant Server ACSL4_000047 1/10563 1/6728 0/3835
1 c.723T>G r.(=) p.(=) g.108921577A>C Copied from the Exome Variant Server ACSL4_000046 1/10563 0/6728 1/3835
1 c.742A>T r.(?) p.(Met248Leu) g.108921558T>A Copied from the Exome Variant Server ACSL4_000045 1/10563 0/6728 1/3835
1 c.806+3A>G r.spl? p.? g.108921491T>C Copied from the Exome Variant Server ACSL4_000044 17/10563 17/6728 0/3835
1 c.806+8A>C r.(=) p.(=) g.108921486T>G Copied from the Exome Variant Server ACSL4_000043 3/10563 2/6728 1/3835
1 c.806+23T>C r.(=) p.(=) g.108921471A>G Copied from the Exome Variant Server ACSL4_000042 1/10563 1/6728 0/3835
1 c.806+44G>A r.(=) p.(=) g.108921450C>T Copied from the Exome Variant Server ACSL4_000041 1/10563 1/6728 0/3835
1 c.807-45T>G r.(=) p.(=) g.108921385A>C Copied from the Exome Variant Server ACSL4_000040 1/10563 1/6728 0/3835
1 c.807-42C>G r.(=) p.(=) g.108921382G>C Copied from the Exome Variant Server ACSL4_000039 1/10563 1/6728 0/3835
1 c.930+32G>C r.(=) p.(=) g.108921185C>G Copied from the Exome Variant Server ACSL4_000038 1/10563 0/6728 1/3835
1 c.930+44A>G r.(=) p.(=) g.108921173T>C Copied from the Exome Variant Server ACSL4_000037 1/10563 0/6728 1/3835
1 c.931-55A>G r.(=) p.(=) g.108917757T>C Copied from the Exome Variant Server ACSL4_000036 1548/3596 1353/2387 195/1209
1 c.931-9T>A r.(=) p.(=) g.108917711A>T Copied from the Exome Variant Server ACSL4_000035 5/10559 0/6724 5/3835
1 c.1002+20A>G r.(=) p.(=) g.108917611T>C Copied from the Exome Variant Server ACSL4_000034 12/10562 0/6727 12/3835
1 c.1002+52T>G r.(=) p.(=) g.108917579A>C Copied from the Exome Variant Server ACSL4_000033 1/8124 0/5497 1/2627
1 c.1142+41T>C r.(=) p.(=) g.108912222A>G Copied from the Exome Variant Server ACSL4_000032 1/10559 0/6724 1/3835
1 c.1143-35C>T r.(=) p.(=) g.108911537G>A Copied from the Exome Variant Server ACSL4_000031 1/10563 1/6728 0/3835
1 c.1143-12C>T r.(=) p.(=) g.108911514G>A Copied from the Exome Variant Server ACSL4_000030 21/10563 2/6728 19/3835
1 c.1212G>A r.(=) p.(=) g.108911433C>T Copied from the Exome Variant Server ACSL4_000029 1/10563 1/6728 0/3835
1 c.1261A>G r.(?) p.(Ile421Val) g.108911384T>C Copied from the Exome Variant Server ACSL4_000028 1/10563 1/6728 0/3835
1 c.1298C>G r.(?) p.(Ala433Gly) g.108911347G>C Copied from the Exome Variant Server ACSL4_000027 2/10563 2/6728 0/3835
1 c.1316-49A>G r.(=) p.(=) g.108908772T>C Copied from the Exome Variant Server ACSL4_000026 1/10563 1/6728 0/3835
1 c.1325A>G r.(?) p.(Tyr442Cys) g.108908714T>C Copied from the Exome Variant Server ACSL4_000025 3/10563 3/6728 0/3835
1 c.1391-39G>T r.(=) p.(=) g.108906670C>A Copied from the Exome Variant Server ACSL4_000024 5/10555 3/6724 2/3831
1 c.1391-7T>C r.(=) p.(=) g.108906638A>G Copied from the Exome Variant Server ACSL4_000023 44/10561 0/6726 44/3835
1 c.1393G>A r.(?) p.(Gly465Ser) g.108906629C>T Copied from the Exome Variant Server ACSL4_000022 2/10563 2/6728 0/3835
1 c.1414C>G r.(?) p.(Pro472Ala) g.108906608G>C Copied from the Exome Variant Server ACSL4_000021 1/10563 1/6728 0/3835
1 c.1453A>G r.(?) p.(Ile485Val) g.108906569T>C Copied from the Exome Variant Server ACSL4_000020 4/10563 4/6728 0/3835
1 c.1508A>G r.(?) p.(Asp503Gly) g.108906514T>C Copied from the Exome Variant Server ACSL4_000019 1/10563 0/6728 1/3835
1 c.1560C>T r.(=) p.(=) g.108906462G>A Copied from the Exome Variant Server ACSL4_000018 1/10563 1/6728 0/3835
1 c.1583-49T>C r.(=) p.(=) g.108904923A>G Copied from the Exome Variant Server ACSL4_000017 1/10556 1/6721 0/3835
1 c.1583-48T>C r.(=) p.(=) g.108904922A>G Copied from the Exome Variant Server ACSL4_000016 1/10556 1/6721 0/3835
1 c.1669A>G r.(?) p.(Ile557Val) g.108904788T>C Copied from the Exome Variant Server ACSL4_000015 2/10561 2/6726 0/3835
1 c.1697+31G>A r.(=) p.(=) g.108904729C>T Copied from the Exome Variant Server ACSL4_000014 10497/10558 6671/6723 3826/3835
1 c.1698-10G>A r.(=) p.(=) g.108902750C>T Copied from the Exome Variant Server ACSL4_000013 77/10561 0/6728 77/3833
1 c.1836T>C r.(=) p.(=) g.108902602A>G Copied from the Exome Variant Server ACSL4_000012 1/10563 1/6728 0/3835
1 c.1852G>A r.(?) p.(Ala618Thr) g.108902586C>T Copied from the Exome Variant Server ACSL4_000011 1/10563 0/6728 1/3835
1 c.1855+11A>G r.(=) p.(=) g.108902572T>C Copied from the Exome Variant Server ACSL4_000010 106/10563 0/6728 106/3835
1 c.1856-51C>T r.(=) p.(=) g.108887466G>A Copied from the Exome Variant Server ACSL4_000009 43/10531 0/6708 43/3823
1 c.1856-50G>A r.(=) p.(=) g.108887465C>T Copied from the Exome Variant Server ACSL4_000008 4/10535 0/6710 4/3825
1 c.1856-36C>A r.(=) p.(=) g.108887451G>T Copied from the Exome Variant Server ACSL4_000007 1/10551 1/6718 0/3833
1 c.1856-36_1856-35insC r.(=) p.(=) g.108887450_108887451insG Copied from the Exome Variant Server ACSL4_000006 62/10139 11/6451 51/3688
1 c.1856-9T>C r.(=) p.(=) g.108887424A>G Copied from the Exome Variant Server ACSL4_000005 5/10563 5/6728 0/3835
1 c.1892G>A r.(?) p.(Arg631Gln) g.108887379C>T Copied from the Exome Variant Server ACSL4_000004 1/10563 1/6728 0/3835
1 c.1929G>A r.(=) p.(=) g.108887342C>T Copied from the Exome Variant Server ACSL4_000003 1/10563 0/6728 1/3835
1 c.*27G>A r.(=) p.(=) g.108887231C>T Copied from the Exome Variant Server ACSL4_000002 23/10563 0/6728 23/3835
1 c.*37G>A r.(=) p.(=) g.108887221C>T Copied from the Exome Variant Server ACSL4_000001 21/10563 0/6728 21/3835
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