Unique variants in gene AATK-AS1

Information The variants shown are described using the NR_027255.1 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
1 n.92C>G r.(?) - g.79139398C>G Copied from the Exome Variant Server AATK-AS1_000001 1/4566 0/3182 1/1384
1 n.140C>T r.(?) - g.79139446C>T Copied from the Exome Variant Server AATK-AS1_000002 1/4566 1/3182 0/1384
1 n.167C>G r.(?) - g.79139473C>G Copied from the Exome Variant Server AATK-AS1_000003 1186/4564 1060/3180 126/1384
1 n.241+137_241+138insCGTC r.(=) p.(=) g.79139684_79139685insCGTC Copied from the Exome Variant Server AATK-AS1_000004 12/10420 0/7028 12/3392
1 n.241+161G>C r.(=) p.(=) g.79139708G>C Copied from the Exome Variant Server AATK-AS1_000005 1/10068 1/7062 0/3006
1 n.241+213G>C r.(=) p.(=) g.79139760G>C Copied from the Exome Variant Server AATK-AS1_000006 1/10166 1/7114 0/3052
1 n.241+240C>G r.(=) p.(=) g.79139787C>G Copied from the Exome Variant Server AATK-AS1_000007 1/10150 1/7100 0/3050
1 n.241+262G>A r.(=) p.(=) g.79139809G>A Copied from the Exome Variant Server AATK-AS1_000008 2/9988 2/6998 0/2990
1 n.241+264C>T r.(=) p.(=) g.79139811C>T Copied from the Exome Variant Server AATK-AS1_000009 1/9976 1/6996 0/2980
1 n.263_264insC r.(?) - g.79140498_79140499insC Copied from the Exome Variant Server AATK-AS1_000010 210/7016 27/4386 183/2630
1 n.356A>G r.(?) - g.79140591A>G Copied from the Exome Variant Server AATK-AS1_000011 1/4566 1/3182 0/1384
1 n.374C>A r.(?) - g.79140609C>A Copied from the Exome Variant Server AATK-AS1_000012 1/4566 1/3182 0/1384
1 n.409+28C>T r.(=) p.(=) g.79140672C>T Copied from the Exome Variant Server AATK-AS1_000013 1/4566 1/3182 0/1384
1 n.409+29G>A r.(=) p.(=) g.79140673G>A Copied from the Exome Variant Server AATK-AS1_000014 8/4566 0/3182 8/1384
1 n.410-27_410-26del r.(=) p.(=) g.79152691_79152692del Copied from the Exome Variant Server AATK-AS1_000015 2/8258 2/5272 0/2986
1 n.475T>C r.(?) - g.79152783T>C Copied from the Exome Variant Server AATK-AS1_000016 262/4566 66/3182 196/1384
1 n.478G>A r.(?) - g.79152786G>A Copied from the Exome Variant Server AATK-AS1_000017 24/4566 24/3182 0/1384
1 n.490G>A r.(?) - g.79152798G>A Copied from the Exome Variant Server AATK-AS1_000018 1217/4566 861/3182 356/1384
1 n.515G>A r.(?) - g.79152823G>A Copied from the Exome Variant Server AATK-AS1_000019 37/4566 0/3182 37/1384
1 n.645-2A>G r.spl? p.? g.79154921A>G Copied from the Exome Variant Server AATK-AS1_000020 42/4566 1/3182 41/1384
1 n.671C>T r.(?) - g.79154949C>T Copied from the Exome Variant Server AATK-AS1_000021 10/4566 10/3182 0/1384
1 n.672G>A r.(?) - g.79154950G>A Copied from the Exome Variant Server AATK-AS1_000022 1/4566 0/3182 1/1384
1 n.704G>A r.(?) - g.79154982G>A Copied from the Exome Variant Server AATK-AS1_000023 1/4566 1/3182 0/1384
1 n.708G>A r.(?) - g.79154986G>A Copied from the Exome Variant Server AATK-AS1_000024 28/4566 0/3182 28/1384
1 n.719G>A r.(?) - g.79154997G>A Copied from the Exome Variant Server AATK-AS1_000025 1/4566 1/3182 0/1384
1 n.739C>G r.(?) - g.79155017C>G Copied from the Exome Variant Server AATK-AS1_000027 361/4566 159/3182 202/1384
1 n.755G>A r.(?) - g.79155033G>A Copied from the Exome Variant Server AATK-AS1_000029 1/4566 1/3182 0/1384
1 n.763_765del r.(?) - g.79155041_79155043del Copied from the Exome Variant Server AATK-AS1_000026 1/8378 0/5322 1/3056
1 n.785G>T r.(?) - g.79155063G>T Copied from the Exome Variant Server AATK-AS1_000028 1/4566 0/3182 1/1384
1 n.801C>T r.(?) - g.79155079C>T Copied from the Exome Variant Server AATK-AS1_000030 7/4566 7/3182 0/1384
1 n.817G>C r.(?) - g.79155095G>C Copied from the Exome Variant Server AATK-AS1_000031 1/4566 0/3182 1/1384
1 n.827C>A r.(?) - g.79155105C>A Copied from the Exome Variant Server AATK-AS1_000032 42/4566 1/3182 41/1384
1 n.838A>G r.(?) - g.79155116A>G Copied from the Exome Variant Server AATK-AS1_000033 3758/4566 2730/3182 1028/1384
1 n.854+22C>T r.(=) p.(=) g.79155154C>T Copied from the Exome Variant Server AATK-AS1_000034 1/4566 1/3182 0/1384
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