Unique variants in gene NME1

Information The variants shown are described using the NM_000269.2 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.-5+669G>A r.(=) p.(=) g.49231692G>A Copied from the Exome Variant Server NME1_000001 1/13006 1/8600 0/4406
1 c.-5+689G>T r.(=) p.(=) g.49231712G>T Copied from the Exome Variant Server NME1_000002 1/13006 1/8600 0/4406
1 c.-5+738del r.(=) p.(=) g.49231761del Copied from the Exome Variant Server NME1_000003 1/12518 1/8254 0/4264
1 c.-5+745C>T r.(=) p.(=) g.49231768C>T Copied from the Exome Variant Server NME1_000004 1/13006 0/8600 1/4406
1 c.-5+762del r.(=) p.(=) g.49231785del Copied from the Exome Variant Server NME1_000005 10/12518 9/8254 1/4264
1 c.-5+763A>C r.(=) p.(=) g.49231786A>C Copied from the Exome Variant Server NME1_000006 5/13006 0/8600 5/4406
1 c.-5+778A>G r.(=) p.(=) g.49231801A>G Copied from the Exome Variant Server NME1_000007 2/13006 2/8600 0/4406
1 c.-5+825C>T r.(=) p.(=) g.49231848C>T Copied from the Exome Variant Server NME1_000008 1/13006 0/8600 1/4406
1 c.-5+842del r.(=) p.(=) g.49231865del Copied from the Exome Variant Server NME1_000009 126/12518 118/8254 8/4264
1 c.29C>T r.(?) p.(Ala10Val) g.49233044C>T Copied from the Exome Variant Server NME1_000010 1/13006 0/8600 1/4406
1 c.52C>T r.(?) p.(Arg18Trp) g.49233067C>T Copied from the Exome Variant Server NME1_000011 2/13006 2/8600 0/4406
1 c.75C>T r.(=) p.(=) g.49233090C>T Copied from the Exome Variant Server NME1_000012 1/13006 0/8600 1/4406
1 c.80G>A r.(?) p.(Arg27His) g.49233095G>A Copied from the Exome Variant Server NME1_000013 1/13006 1/8600 0/4406
1 c.93A>G r.(=) p.(=) g.49233108A>G Copied from the Exome Variant Server NME1_000014 1/13006 0/8600 1/4406
1 c.126+21C>T r.(=) p.(=) g.49233162C>T Copied from the Exome Variant Server NME1_000015 1/13006 0/8600 1/4406
1 c.127-16C>T r.(=) p.(=) g.49237325C>T Copied from the Exome Variant Server NME1_000016 1/13006 1/8600 0/4406
1 c.228+5_228+6del r.spl? p.? g.49237447_49237448del Copied from the Exome Variant Server NME1_000017 1/12518 1/8254 0/4264
1 c.228+37T>A r.(=) p.(=) g.49237479T>A Copied from the Exome Variant Server NME1_000018 1/13006 0/8600 1/4406
1 c.229-10G>A r.(=) p.(=) g.49238511G>A Copied from the Exome Variant Server NME1_000019 1/13006 1/8600 0/4406
1 c.229-4G>T r.spl? p.? g.49238517G>T Copied from the Exome Variant Server NME1_000020 1/13006 0/8600 1/4406
1 c.257C>T r.(?) p.(Thr86Met) g.49238549C>T Copied from the Exome Variant Server NME1_000021 4/13006 0/8600 4/4406
1 c.301C>T r.(?) p.(Pro101Ser) g.49238593C>T Copied from the Exome Variant Server NME1_000022 3/13006 0/8600 3/4406
1 c.328A>T r.(?) p.(Ile110Leu) g.49238620A>T Copied from the Exome Variant Server NME1_000023 1/13004 0/8600 1/4404
1 c.341+10T>G r.(=) p.(=) g.49238643T>G Copied from the Exome Variant Server NME1_000024 53/13002 0/8598 53/4404
1 c.342-52G>A r.(=) p.(=) g.49239037G>A Copied from the Exome Variant Server NME1_000025 5/5734 0/3982 5/1752
1 c.345C>T r.(=) p.(=) g.49239092C>T Copied from the Exome Variant Server NME1_000026 5/13006 5/8600 0/4406
1 c.390C>T r.(=) p.(=) g.49239137C>T Copied from the Exome Variant Server NME1_000027 1/13006 1/8600 0/4406
1 c.454G>C r.(?) p.(Glu152Gln) g.49239201G>C Copied from the Exome Variant Server NME1_000028 1/13006 0/8600 1/4406
1 c.*14C>G r.(=) p.(=) g.49239220C>G Copied from the Exome Variant Server NME1_000029 1/13006 1/8600 0/4406
1 c.*44T>C r.(=) p.(=) g.49239250T>C Copied from the Exome Variant Server NME1_000030 1/13006 1/8600 0/4406
1 c.*46C>G r.(=) p.(=) g.49239252C>G Copied from the Exome Variant Server NME1_000031 1/13006 0/8600 1/4406
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