All transcript variants in gene MXD1

Information The variants shown are described using the NM_002357.3 transcript reference sequence.

41 entries on 1 page. Showing entries 1 - 41.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48C>T r.(=) p.(=) g.70142415C>T Copied from the Exome Variant Server MXD1_000001 1/10158 0/6618 1/3540
?/? c.-24C>T r.(=) p.(=) g.70142439C>T Copied from the Exome Variant Server MXD1_000002 1/10524 0/6882 1/3642
?/? c.91G>A r.(?) p.(Ala31Thr) g.70143270G>A Copied from the Exome Variant Server MXD1_000003 1/13006 1/8600 0/4406
?/? c.118G>A r.(?) p.(Asp40Asn) g.70143297G>A Copied from the Exome Variant Server MXD1_000005 1/13006 1/8600 0/4406
?/? c.156G>A r.(=) p.(=) g.70143335G>A Copied from the Exome Variant Server MXD1_000007 1/13006 1/8600 0/4406
?/? c.173+20del r.(=) p.(=) g.70143372del Copied from the Exome Variant Server MXD1_000009 1/12518 1/8254 0/4264
?/? c.174-18T>C r.(=) p.(=) g.70148850T>C Copied from the Exome Variant Server MXD1_000011 1/13006 1/8600 0/4406
?/? c.203+26A>T r.(=) p.(=) g.70148923A>T Copied from the Exome Variant Server MXD1_000004 20/13006 0/8600 20/4406
?/? c.203+28_203+29del r.(=) p.(=) g.70148925_70148926del Copied from the Exome Variant Server MXD1_000006 274/12520 0/8254 274/4266
?/? c.204-42A>G r.(=) p.(=) g.70162441A>G Copied from the Exome Variant Server MXD1_000008 1/13006 1/8600 0/4406
?/? c.204-40T>C r.(=) p.(=) g.70162443T>C Copied from the Exome Variant Server MXD1_000010 1/13006 0/8600 1/4406
?/? c.204-3T>C r.spl? p.? g.70162480T>C Copied from the Exome Variant Server MXD1_000012 1/13006 1/8600 0/4406
?/? c.237G>A r.(=) p.(=) g.70162516G>A Copied from the Exome Variant Server MXD1_000013 1/13006 1/8600 0/4406
?/? c.255T>G r.(=) p.(=) g.70162534T>G Copied from the Exome Variant Server MXD1_000014 7120/13006 3669/8600 3451/4406
?/? c.261C>T r.(=) p.(=) g.70162540C>T Copied from the Exome Variant Server MXD1_000015 4/13006 0/8600 4/4406
?/? c.319-49A>G r.(=) p.(=) g.70164318A>G Copied from the Exome Variant Server MXD1_000016 1/13006 0/8600 1/4406
?/? c.319-36C>T r.(=) p.(=) g.70164331C>T Copied from the Exome Variant Server MXD1_000017 1/13006 0/8600 1/4406
?/? c.319-20A>G r.(=) p.(=) g.70164347A>G Copied from the Exome Variant Server MXD1_000018 85/13006 0/8600 85/4406
?/? c.319-16C>T r.(=) p.(=) g.70164351C>T Copied from the Exome Variant Server MXD1_000019 5/13006 0/8600 5/4406
?/? c.346G>A r.(?) p.(Val116Ile) g.70164394G>A Copied from the Exome Variant Server MXD1_000020 1/13006 1/8600 0/4406
?/? c.357C>T r.(=) p.(=) g.70164405C>T Copied from the Exome Variant Server MXD1_000021 1/13006 1/8600 0/4406
?/? c.375G>A r.(=) p.(=) g.70164423G>A Copied from the Exome Variant Server MXD1_000022 4/13006 4/8600 0/4406
?/? c.447C>T r.(=) p.(=) g.70164495C>T Copied from the Exome Variant Server MXD1_000023 1/13006 1/8600 0/4406
?/? c.471C>T r.(=) p.(=) g.70164519C>T Copied from the Exome Variant Server MXD1_000024 4/13006 0/8600 4/4406
?/? c.478+20C>T r.(=) p.(=) g.70164546C>T Copied from the Exome Variant Server MXD1_000025 2/13006 2/8600 0/4406
?/? c.479-39C>T r.(=) p.(=) g.70165190C>T Copied from the Exome Variant Server MXD1_000026 1/13006 0/8600 1/4406
?/? c.495C>T r.(=) p.(=) g.70165245C>T Copied from the Exome Variant Server MXD1_000027 1/13006 0/8600 1/4406
?/? c.506C>T r.(?) p.(Thr169Met) g.70165256C>T Copied from the Exome Variant Server MXD1_000028 2/13006 1/8600 1/4406
?/? c.531C>G r.(?) p.(Asp177Glu) g.70165281C>G Copied from the Exome Variant Server MXD1_000029 9/13006 0/8600 9/4406
?/? c.549G>A r.(=) p.(=) g.70165299G>A Copied from the Exome Variant Server MXD1_000030 1/13006 1/8600 0/4406
?/? c.552C>T r.(=) p.(=) g.70165302C>T Copied from the Exome Variant Server MXD1_000031 2/13006 2/8600 0/4406
?/? c.561C>T r.(=) p.(=) g.70165311C>T Copied from the Exome Variant Server MXD1_000032 1/13006 1/8600 0/4406
?/? c.566G>A r.(?) p.(Arg189Gln) g.70165316G>A Copied from the Exome Variant Server MXD1_000033 6/13006 6/8600 0/4406
?/? c.569G>T r.(?) p.(Gly190Val) g.70165319G>T Copied from the Exome Variant Server MXD1_000034 1/13006 1/8600 0/4406
?/? c.586G>A r.(?) p.(Gly196Ser) g.70165336G>A Copied from the Exome Variant Server MXD1_000035 1/13006 1/8600 0/4406
?/? c.611C>T r.(?) p.(Thr204Ile) g.70165361C>T Copied from the Exome Variant Server MXD1_000036 6/13006 6/8600 0/4406
?/? c.651G>A r.(=) p.(=) g.70165401G>A Copied from the Exome Variant Server MXD1_000037 1/13006 1/8600 0/4406
?/? c.663C>T r.(=) p.(=) g.70165413C>T Copied from the Exome Variant Server MXD1_000038 1/13006 0/8600 1/4406
?/? c.*15C>T r.(=) p.(=) g.70165431C>T Copied from the Exome Variant Server MXD1_000039 1/13006 1/8600 0/4406
?/? c.*16G>A r.(=) p.(=) g.70165432G>A Copied from the Exome Variant Server MXD1_000040 1/13006 1/8600 0/4406
?/? c.*43T>C r.(=) p.(=) g.70165459T>C Copied from the Exome Variant Server MXD1_000041 200/13006 0/8600 200/4406
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