Unique variants in gene ASB11

Information The variants shown are described using the NM_001012428.2 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
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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.-1106C>T r.(=) p.(=) g.15333714G>A Copied from the Exome Variant Server ASB11_000058 6/10554 0/6719 6/3835
1 c.-1078T>G r.(=) p.(=) g.15333686A>C Copied from the Exome Variant Server ASB11_000056 1/10556 1/6723 0/3833
1 c.-1060del r.(=) p.(=) g.15333668del Copied from the Exome Variant Server ASB11_000054 2/10202 0/6481 2/3721
1 c.-1018C>A r.(=) p.(=) g.15333626G>T Copied from the Exome Variant Server ASB11_000066 21/10560 21/6725 0/3835
1 c.-1013C>A r.(=) p.(=) g.15333621G>T Copied from the Exome Variant Server ASB11_000065 1/10560 0/6725 1/3835
1 c.-1000C>T r.(=) p.(=) g.15333608G>A Copied from the Exome Variant Server ASB11_000064 1/10559 1/6724 0/3835
1 c.-976G>A r.(=) p.(=) g.15333584C>T Copied from the Exome Variant Server ASB11_000063 2/10560 2/6725 0/3835
1 c.-953A>G r.(=) p.(=) g.15333561T>C Copied from the Exome Variant Server ASB11_000062 1/10559 0/6724 1/3835
1 c.-938G>A r.(=) p.(=) g.15333546C>T Copied from the Exome Variant Server ASB11_000061 1/10557 1/6722 0/3835
1 c.-920G>T r.(=) p.(=) g.15333528C>A Copied from the Exome Variant Server ASB11_000060 1/10552 1/6717 0/3835
1 c.-48C>T r.(=) p.(=) g.15332656G>A Copied from the Exome Variant Server ASB11_000059 1/10563 1/6728 0/3835
1 c.45A>G r.(=) p.(=) g.15332564T>C Copied from the Exome Variant Server ASB11_000057 1/10563 1/6728 0/3835
1 c.51T>C r.(=) p.(=) g.15332558A>G Copied from the Exome Variant Server ASB11_000055 3385/10563 2634/6728 751/3835
1 c.64G>A r.(?) p.(Gly22Arg) g.15332545C>T Copied from the Exome Variant Server ASB11_000053 1/10563 1/6728 0/3835
1 c.113A>G r.(?) p.(Gln38Arg) g.15332496T>C Copied from the Exome Variant Server ASB11_000052 1/10563 0/6728 1/3835
1 c.118+34A>C r.(=) p.(=) g.15332457T>G Copied from the Exome Variant Server ASB11_000051 4/10553 0/6724 4/3829
1 c.119-62G>T r.(=) p.(=) g.15320991C>A Copied from the Exome Variant Server ASB11_000050 3/3600 0/2391 3/1209
1 c.119-19A>G r.(=) p.(=) g.15320948T>C Copied from the Exome Variant Server ASB11_000049 1/10563 1/6728 0/3835
1 c.119-17C>T r.(=) p.(=) g.15320946G>A Copied from the Exome Variant Server ASB11_000048 1/10563 1/6728 0/3835
1 c.151G>T r.(?) p.(Ala51Ser) g.15320897C>A Copied from the Exome Variant Server ASB11_000047 1/10563 1/6728 0/3835
1 c.198+7G>A r.(=) p.(=) g.15320843C>T Copied from the Exome Variant Server ASB11_000046 1/10563 0/6728 1/3835
1 c.198+10_198+14del r.(=) p.(=) g.15320836_15320840del Copied from the Exome Variant Server ASB11_000045 62/10205 37/6484 25/3721
1 c.200G>A r.(?) p.(Gly67Asp) g.15315802C>T Copied from the Exome Variant Server ASB11_000044 1/10563 0/6728 1/3835
1 c.208G>A r.(?) p.(Val70Met) g.15315794C>T Copied from the Exome Variant Server ASB11_000043 1/10563 1/6728 0/3835
1 c.213C>A r.(?) p.(Asn71Lys) g.15315789G>T Copied from the Exome Variant Server ASB11_000042 119/10563 2/6728 117/3835
1 c.247G>A r.(?) p.(Glu83Lys) g.15315755C>T Copied from the Exome Variant Server ASB11_000041 1/10563 1/6728 0/3835
1 c.306+1G>A r.spl? p.? g.15315695C>T Copied from the Exome Variant Server ASB11_000039 1/10563 1/6728 0/3835
1 c.306+8C>T r.(=) p.(=) g.15315688G>A Copied from the Exome Variant Server ASB11_000038 1/10563 0/6728 1/3835
1 c.306+12C>T r.(=) p.(=) g.15315684G>A Copied from the Exome Variant Server ASB11_000040 1/10563 1/6728 0/3835
1 c.307-29C>T r.(=) p.(=) g.15311471G>A Copied from the Exome Variant Server ASB11_000037 1/10563 0/6728 1/3835
1 c.328G>A r.(?) p.(Gly110Arg) g.15311421C>T Copied from the Exome Variant Server ASB11_000036 1/10563 0/6728 1/3835
1 c.361G>A r.(?) p.(Gly121Ser) g.15311388C>T Copied from the Exome Variant Server ASB11_000035 1/10563 1/6728 0/3835
1 c.362G>A r.(?) p.(Gly121Asp) g.15311387C>T Copied from the Exome Variant Server ASB11_000034 1/10563 1/6728 0/3835
1 c.370G>A r.(?) p.(Ala124Thr) g.15311379C>T Copied from the Exome Variant Server ASB11_000033 1/10563 1/6728 0/3835
1 c.373T>C r.(?) p.(Cys125Arg) g.15311376A>G Copied from the Exome Variant Server ASB11_000032 1/10563 1/6728 0/3835
1 c.378C>T r.(=) p.(=) g.15311371G>A Copied from the Exome Variant Server ASB11_000031 1/10563 0/6728 1/3835
1 c.397G>A r.(?) p.(Gly133Arg) g.15311352C>T Copied from the Exome Variant Server ASB11_000030 1/10563 0/6728 1/3835
1 c.420G>A r.(=) p.(=) g.15311329C>T Copied from the Exome Variant Server ASB11_000029 2/10563 0/6728 2/3835
1 c.431C>T r.(?) p.(Ser144Leu) g.15311318G>A Copied from the Exome Variant Server ASB11_000028 10/10563 10/6728 0/3835
1 c.432G>A r.(=) p.(=) g.15311317C>T Copied from the Exome Variant Server ASB11_000027 4/10563 3/6728 1/3835
1 c.457+10C>G r.(=) p.(=) g.15311282G>C Copied from the Exome Variant Server ASB11_000026 1/10563 1/6728 0/3835
1 c.458-20G>A r.(=) p.(=) g.15307780C>T Copied from the Exome Variant Server ASB11_000025 1/10563 1/6728 0/3835
1 c.466G>A r.(?) p.(Glu156Lys) g.15307752C>T Copied from the Exome Variant Server ASB11_000024 6/10563 0/6728 6/3835
1 c.503T>C r.(?) p.(Ile168Thr) g.15307715A>G Copied from the Exome Variant Server ASB11_000023 1/10563 1/6728 0/3835
1 c.526G>A r.(?) p.(Gly176Arg) g.15307692C>T Copied from the Exome Variant Server ASB11_000022 1/10563 1/6728 0/3835
1 c.555C>T r.(=) p.(=) g.15307663G>A Copied from the Exome Variant Server ASB11_000021 4/10563 0/6728 4/3835
1 c.559A>T r.(?) p.(Arg187Trp) g.15307659T>A Copied from the Exome Variant Server ASB11_000020 46/10563 42/6728 4/3835
1 c.593-39T>C r.(=) p.(=) g.15306233A>G Copied from the Exome Variant Server ASB11_000019 1/10563 1/6728 0/3835
1 c.645G>A r.(=) p.(=) g.15306142C>T Copied from the Exome Variant Server ASB11_000018 2/10563 2/6728 0/3835
1 c.682G>A r.(?) p.(Asp228Asn) g.15306105C>T Copied from the Exome Variant Server ASB11_000017 191/10563 1/6728 190/3835
1 c.710A>C r.(?) p.(Asn237Thr) g.15306077T>G Copied from the Exome Variant Server ASB11_000016 1/10563 0/6728 1/3835
1 c.713C>G r.(?) p.(Ala238Gly) g.15306074G>C Copied from the Exome Variant Server ASB11_000015 2/10563 0/6728 2/3835
1 c.724A>G r.(?) p.(Ser242Gly) g.15306063T>C Copied from the Exome Variant Server ASB11_000014 176/10563 168/6728 8/3835
1 c.729G>A r.(=) p.(=) g.15306058C>T Copied from the Exome Variant Server ASB11_000013 1/10563 1/6728 0/3835
1 c.784+6C>A r.(=) p.(=) g.15305997G>T Copied from the Exome Variant Server ASB11_000012 18/10563 15/6728 3/3835
1 c.784+41A>G r.(=) p.(=) g.15305962T>C Copied from the Exome Variant Server ASB11_000011 1/10563 0/6728 1/3835
1 c.785-47C>T r.(=) p.(=) g.15301798G>A Copied from the Exome Variant Server ASB11_000010 1/10562 0/6727 1/3835
1 c.796C>G r.(?) p.(Leu266Val) g.15301740G>C Copied from the Exome Variant Server ASB11_000009 1/10563 1/6728 0/3835
1 c.823C>T r.(?) p.(Arg275Trp) g.15301713G>A Copied from the Exome Variant Server ASB11_000008 9/10563 0/6728 9/3835
1 c.838C>A r.(=) p.(=) g.15301698G>T Copied from the Exome Variant Server ASB11_000007 11/10563 0/6728 11/3835
1 c.885C>T r.(=) p.(=) g.15301651G>A Copied from the Exome Variant Server ASB11_000006 1/10563 1/6728 0/3835
1 c.890G>A r.(?) p.(Arg297Gln) g.15301646C>T Copied from the Exome Variant Server ASB11_000005 1/10563 1/6728 0/3835
1 c.895C>T r.(?) p.(Leu299Phe) g.15301641G>A Copied from the Exome Variant Server ASB11_000004 1/10563 0/6728 1/3835
1 c.905A>G r.(?) p.(Gln302Arg) g.15301631T>C Copied from the Exome Variant Server ASB11_000003 1/10563 1/6728 0/3835
1 c.*3C>G r.(=) p.(=) g.15301624G>C Copied from the Exome Variant Server ASB11_000002 666/10563 430/6728 236/3835
1 c.*48T>C r.(=) p.(=) g.15301579A>G Copied from the Exome Variant Server ASB11_000001 3/10563 0/6728 3/3835
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