Unique variants in gene NME6

Information The variants shown are described using the NM_005793.3 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-34C>T r.(=) p.(=) g.48342836G>A Copied from the Exome Variant Server NME6_000052 1/12964 1/8572 0/4392
1 c.-13A>C r.(=) p.(=) g.48342815T>G Copied from the Exome Variant Server NME6_000051 2/12988 2/8590 0/4398
1 c.12T>A r.(?) p.(Asn4Lys) g.48342791A>T Copied from the Exome Variant Server NME6_000050 2/12996 2/8598 0/4398
1 c.17+6C>G r.(=) p.(=) g.48342780G>C Copied from the Exome Variant Server NME6_000049 1/12996 0/8598 1/4398
1 c.17+15del r.(=) p.(=) g.48342771del Copied from the Exome Variant Server NME6_000048 97/12498 58/8242 39/4256
1 c.17+70G>A r.(=) p.(=) g.48342716C>T Copied from the Exome Variant Server NME6_000047 64/4566 5/3182 59/1384
1 c.18-38C>T r.(=) p.(=) g.48340051G>A Copied from the Exome Variant Server NME6_000046 5/13006 1/8600 4/4406
1 c.18-32G>A r.(=) p.(=) g.48340045C>T Copied from the Exome Variant Server NME6_000045 3006/13006 2640/8600 366/4406
1 c.18-11T>G r.(=) p.(=) g.48340024A>C Copied from the Exome Variant Server NME6_000044 1/13006 0/8600 1/4406
1 c.87C>T r.(=) p.(=) g.48339944G>A Copied from the Exome Variant Server NME6_000043 1/13006 1/8600 0/4406
1 c.93C>T r.(=) p.(=) g.48339938G>A Copied from the Exome Variant Server NME6_000042 1/13006 1/8600 0/4406
1 c.94G>A r.(?) p.(Ala32Thr) g.48339937C>T Copied from the Exome Variant Server NME6_000040 3/13006 2/8600 1/4406
1 c.114+20_114+23del r.(=) p.(=) g.48339894_48339897del Copied from the Exome Variant Server NME6_000038 17/12520 12/8254 5/4266
1 c.158G>A r.(?) p.(Arg53Gln) g.48338276C>T Copied from the Exome Variant Server NME6_000036 1/13006 0/8600 1/4406
1 c.167A>T r.(?) p.(Glu56Val) g.48338267T>A Copied from the Exome Variant Server NME6_000034 1/13006 1/8600 0/4406
1 c.187G>T r.(?) p.(Asp63Tyr) g.48338247C>A Copied from the Exome Variant Server NME6_000032 1/13006 1/8600 0/4406
1 c.210G>A r.(=) p.(=) g.48338224C>T Copied from the Exome Variant Server NME6_000030 1/13006 1/8600 0/4406
1 c.217+3A>G r.spl? p.? g.48338214T>C Copied from the Exome Variant Server NME6_000028 1/13006 0/8600 1/4406
1 c.217+37A>G r.(=) p.(=) g.48338180T>C Copied from the Exome Variant Server NME6_000026 3/13006 1/8600 2/4406
1 c.217+44G>A r.(=) p.(=) g.48338173C>T Copied from the Exome Variant Server NME6_000024 3009/13006 2643/8600 366/4406
1 c.218-8_218-7del r.(=) p.(=) g.48337655_48337656del Copied from the Exome Variant Server NME6_000022 2/12520 2/8254 0/4266
1 c.221G>A r.(?) p.(Arg74His) g.48337645C>T Copied from the Exome Variant Server NME6_000020 2/13006 0/8600 2/4406
1 c.228C>T r.(=) p.(=) g.48337638G>A Copied from the Exome Variant Server NME6_000041 4/13006 4/8600 0/4406
1 c.257+29A>G r.(=) p.(=) g.48337580T>C Copied from the Exome Variant Server NME6_000039 1/13006 0/8600 1/4406
1 c.257+38G>A r.(=) p.(=) g.48337571C>T Copied from the Exome Variant Server NME6_000037 1/13006 1/8600 0/4406
1 c.257+45C>T r.(=) p.(=) g.48337564G>A Copied from the Exome Variant Server NME6_000035 1/13006 1/8600 0/4406
1 c.257+52G>A r.(=) p.(=) g.48337557C>T Copied from the Exome Variant Server NME6_000033 2/10300 0/7164 2/3136
1 c.259G>A r.(?) p.(Gly87Arg) g.48336724C>T Copied from the Exome Variant Server NME6_000031 2/13006 2/8600 0/4406
1 c.270A>T r.(=) p.(=) g.48336713T>A Copied from the Exome Variant Server NME6_000029 1/13006 1/8600 0/4406
1 c.301C>T r.(?) p.(Gln101*) g.48336682G>A Copied from the Exome Variant Server NME6_000027 1/13006 0/8600 1/4406
1 c.314C>T r.(?) p.(Thr105Met) g.48336669G>A Copied from the Exome Variant Server NME6_000025 4/13006 0/8600 4/4406
1 c.340C>T r.(?) p.(Arg114*) g.48336643G>A Copied from the Exome Variant Server NME6_000023 1/13006 0/8600 1/4406
1 c.341G>A r.(?) p.(Arg114Gln) g.48336642C>T Copied from the Exome Variant Server NME6_000021 1/13006 0/8600 1/4406
1 c.361G>T r.(?) p.(Asp121Tyr) g.48336622C>A Copied from the Exome Variant Server NME6_000019 1/13006 1/8600 0/4406
1 c.371G>A r.(?) p.(Arg124His) g.48336612C>T Copied from the Exome Variant Server NME6_000018 1/13006 1/8600 0/4406
1 c.375del r.(?) p.(Ser126Valfs*60) g.48336608del Copied from the Exome Variant Server NME6_000017 1/12520 1/8254 0/4266
1 c.389C>A r.(?) p.(Thr130Asn) g.48336594G>T Copied from the Exome Variant Server NME6_000016 1/13006 0/8600 1/4406
1 c.417G>A r.(=) p.(=) g.48336566C>T Copied from the Exome Variant Server NME6_000015 1/13006 1/8600 0/4406
1 c.418+17T>C r.(=) p.(=) g.48336548A>G Copied from the Exome Variant Server NME6_000014 3/13006 1/8600 2/4406
1 c.418+42C>T r.(=) p.(=) g.48336523G>A Copied from the Exome Variant Server NME6_000013 1/13006 1/8600 0/4406
1 c.418+50C>T r.(=) p.(=) g.48336515G>A Copied from the Exome Variant Server NME6_000012 1/13006 1/8600 0/4406
1 c.446T>C r.(?) p.(Ile149Thr) g.48336266A>G Copied from the Exome Variant Server NME6_000011 1/13006 1/8600 0/4406
1 c.449C>A r.(?) p.(Ala150Glu) g.48336263G>T Copied from the Exome Variant Server NME6_000010 5/13006 4/8600 1/4406
1 c.479G>A r.(?) p.(Arg160His) g.48336233C>T Copied from the Exome Variant Server NME6_000009 1/13006 0/8600 1/4406
1 c.493G>A r.(?) p.(Glu165Lys) g.48336219C>T Copied from the Exome Variant Server NME6_000008 12/13006 12/8600 0/4406
1 c.495A>T r.(?) p.(Glu165Asp) g.48336217T>A Copied from the Exome Variant Server NME6_000007 2/13006 2/8600 0/4406
1 c.516C>T r.(=) p.(=) g.48336196G>A Copied from the Exome Variant Server NME6_000006 2/13006 2/8600 0/4406
1 c.555A>T r.(=) p.(=) g.48336157T>A Copied from the Exome Variant Server NME6_000005 2/13006 0/8600 2/4406
1 c.569del r.(?) p.(Gly190Alafs*2) g.48336143del Copied from the Exome Variant Server NME6_000004 47/12520 35/8254 12/4266
1 c.*3C>A r.(=) p.(=) g.48336124G>T Copied from the Exome Variant Server NME6_000003 85/13006 0/8600 85/4406
1 c.*10A>G r.(=) p.(=) g.48336117T>C Copied from the Exome Variant Server NME6_000002 2/13006 0/8600 2/4406
1 c.*40_*42del r.(=) p.(=) g.48336085_48336087del Copied from the Exome Variant Server NME6_000001 1/12520 1/8254 0/4266
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