All transcript variants in gene AWAT1

Information The variants shown are described using the NM_001013579.2 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-7G>A r.(=) p.(=) g.69454539G>A Copied from the Exome Variant Server AWAT1_000004 2/10563 2/6728 0/3835
?/? c.76+53C>T r.(=) p.(=) g.69454674C>T Copied from the Exome Variant Server AWAT1_000006 62/3600 0/2391 62/1209
?/? c.77-2A>G r.spl? p.? g.69455564A>G Copied from the Exome Variant Server AWAT1_000009 1/10563 0/6728 1/3835
?/? c.100G>T r.(?) p.(Val34Phe) g.69455589G>T Copied from the Exome Variant Server AWAT1_000011 3/10563 0/6728 3/3835
?/? c.181C>T r.(?) p.(Arg61*) g.69455670C>T Copied from the Exome Variant Server AWAT1_000013 2/10563 0/6728 2/3835
?/? c.182G>A r.(?) p.(Arg61Gln) g.69455671G>A Copied from the Exome Variant Server AWAT1_000015 344/10563 2/6728 342/3835
?/? c.184+17T>C r.(=) p.(=) g.69455690T>C Copied from the Exome Variant Server AWAT1_000016 17/10563 15/6728 2/3835
?/? c.184+42C>T r.(=) p.(=) g.69455715C>T Copied from the Exome Variant Server AWAT1_000001 3/10563 3/6728 0/3835
?/? c.185-49A>G r.(=) p.(=) g.69455870A>G Copied from the Exome Variant Server AWAT1_000002 3/10563 0/6728 3/3835
?/? c.185-18_185-16del r.(=) p.(=) g.69455901_69455903del Copied from the Exome Variant Server AWAT1_000003 27/10205 15/6484 12/3721
?/? c.197C>T r.(?) p.(Ser66Leu) g.69455931C>T Copied from the Exome Variant Server AWAT1_000005 1/10563 1/6728 0/3835
?/? c.255G>A r.(=) p.(=) g.69455989G>A Copied from the Exome Variant Server AWAT1_000007 2/10563 0/6728 2/3835
?/? c.255+5G>A r.spl? p.? g.69455994G>A Copied from the Exome Variant Server AWAT1_000008 3/10563 0/6728 3/3835
?/? c.255+50G>A r.(=) p.(=) g.69456039G>A Copied from the Exome Variant Server AWAT1_000010 1/10563 1/6728 0/3835
?/? c.258C>T r.(=) p.(=) g.69456896C>T Copied from the Exome Variant Server AWAT1_000012 4/10562 0/6727 4/3835
?/? c.372G>A r.(=) p.(=) g.69457010G>A Copied from the Exome Variant Server AWAT1_000014 3/10563 2/6728 1/3835
?/? c.408G>A r.(=) p.(=) g.69457046G>A Copied from the Exome Variant Server AWAT1_000017 189/10563 171/6728 18/3835
?/? c.428T>A r.(?) p.(Ile143Asn) g.69457066T>A Copied from the Exome Variant Server AWAT1_000018 1/10563 0/6728 1/3835
?/? c.461-33C>G r.(=) p.(=) g.69458029C>G Copied from the Exome Variant Server AWAT1_000019 1/10563 0/6728 1/3835
?/? c.461-3T>C r.spl? p.? g.69458059T>C Copied from the Exome Variant Server AWAT1_000020 2/10563 2/6728 0/3835
?/? c.508G>A r.(?) p.(Gly170Ser) g.69458109G>A Copied from the Exome Variant Server AWAT1_000021 1/10563 1/6728 0/3835
?/? c.549T>C r.(=) p.(=) g.69458150T>C Copied from the Exome Variant Server AWAT1_000022 1/10563 1/6728 0/3835
?/? c.555C>T r.(=) p.(=) g.69458156C>T Copied from the Exome Variant Server AWAT1_000023 1/10563 1/6728 0/3835
?/? c.569C>G r.(?) p.(Pro190Arg) g.69458170C>G Copied from the Exome Variant Server AWAT1_000024 1/10563 1/6728 0/3835
?/? c.589C>T r.(?) p.(Leu197Phe) g.69458190C>T Copied from the Exome Variant Server AWAT1_000025 1/10563 1/6728 0/3835
?/? c.614G>A r.(?) p.(Arg205His) g.69458215G>A Copied from the Exome Variant Server AWAT1_000026 7/10563 7/6728 0/3835
?/? c.619G>A r.(?) p.(Ala207Thr) g.69458220G>A Copied from the Exome Variant Server AWAT1_000027 1/10563 1/6728 0/3835
?/? c.632+31G>A r.(=) p.(=) g.69458264G>A Copied from the Exome Variant Server AWAT1_000028 1/10550 1/6719 0/3831
?/? c.647C>T r.(?) p.(Pro216Leu) g.69459599C>T Copied from the Exome Variant Server AWAT1_000029 5/10563 5/6728 0/3835
?/? c.699G>C r.(?) p.(Lys233Asn) g.69459651G>C Copied from the Exome Variant Server AWAT1_000030 1/10563 0/6728 1/3835
?/? c.708G>A r.(=) p.(=) g.69459660G>A Copied from the Exome Variant Server AWAT1_000031 1/10563 0/6728 1/3835
?/? c.759T>C r.(=) p.(=) g.69459711T>C Copied from the Exome Variant Server AWAT1_000032 1/10563 1/6728 0/3835
?/? c.793_800del r.(?) p.(Thr265Profs*21) g.69459745_69459752del Copied from the Exome Variant Server AWAT1_000033 3/10205 2/6484 1/3721
?/? c.794C>T r.(?) p.(Thr265Ile) g.69459746C>T Copied from the Exome Variant Server AWAT1_000034 1/10563 0/6728 1/3835
?/? c.796G>A r.(?) p.(Gly266Arg) g.69459748G>A Copied from the Exome Variant Server AWAT1_000035 2/10563 1/6728 1/3835
?/? c.833-41C>T r.(=) p.(=) g.69459945C>T Copied from the Exome Variant Server AWAT1_000036 9827/10562 6121/6727 3706/3835
?/? c.833-16C>T r.(=) p.(=) g.69459970C>T Copied from the Exome Variant Server AWAT1_000037 26/10562 0/6727 26/3835
?/? c.833-15G>A r.(=) p.(=) g.69459971G>A Copied from the Exome Variant Server AWAT1_000038 5/10563 0/6728 5/3835
?/? c.846G>T r.(=) p.(=) g.69459999G>T Copied from the Exome Variant Server AWAT1_000039 2/10563 2/6728 0/3835
?/? c.873C>T r.(=) p.(=) g.69460026C>T Copied from the Exome Variant Server AWAT1_000040 29/10563 27/6728 2/3835
?/? c.930C>T r.(=) p.(=) g.69460083C>T Copied from the Exome Variant Server AWAT1_000041 1/10563 1/6728 0/3835
?/? c.966C>T r.(=) p.(=) g.69460119C>T Copied from the Exome Variant Server AWAT1_000042 1/10563 0/6728 1/3835
?/? c.972G>T r.(?) p.(Lys324Asn) g.69460125G>T Copied from the Exome Variant Server AWAT1_000043 1/10563 0/6728 1/3835
?/? c.975G>A r.(=) p.(=) g.69460128G>A Copied from the Exome Variant Server AWAT1_000044 3/10563 0/6728 3/3835
?/? c.*37T>C r.(=) p.(=) g.69460177T>C Copied from the Exome Variant Server AWAT1_000045 29/10563 7/6728 22/3835
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