Unique variants in gene ANKUB1

Information The variants shown are described using the NM_001144960.1 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.39G>A r.(=) p.(=) g.149510115C>T Copied from the Exome Variant Server ANKUB1_000045 11/4566 10/3182 1/1384
1 c.46G>A r.(?) p.(Val16Ile) g.149510108C>T Copied from the Exome Variant Server ANKUB1_000044 1/4566 1/3182 0/1384
1 c.133C>T r.(?) p.(Arg45Trp) g.149508669G>A Copied from the Exome Variant Server ANKUB1_000043 21/4566 0/3182 21/1384
1 c.234+24G>A r.(=) p.(=) g.149508544C>T Copied from the Exome Variant Server ANKUB1_000042 6/4566 0/3182 6/1384
1 c.234+31A>G r.(=) p.(=) g.149508537T>C Copied from the Exome Variant Server ANKUB1_000041 51/4566 1/3182 50/1384
1 c.235-39C>T r.(=) p.(=) g.149498281G>A Copied from the Exome Variant Server ANKUB1_000040 3/4566 3/3182 0/1384
1 c.235-7C>T r.(=) p.(=) g.149498249G>A Copied from the Exome Variant Server ANKUB1_000039 109/4566 2/3182 107/1384
1 c.256T>C r.(?) p.(Tyr86His) g.149498221A>G Copied from the Exome Variant Server ANKUB1_000038 1/4566 0/3182 1/1384
1 c.296T>G r.(?) p.(Met99Arg) g.149498181A>C Copied from the Exome Variant Server ANKUB1_000037 7/4566 0/3182 7/1384
1 c.330T>G r.(=) p.(=) g.149498147A>C Copied from the Exome Variant Server ANKUB1_000036 11/4566 0/3182 11/1384
1 c.331G>T r.(?) p.(Asp111Tyr) g.149498146C>A Copied from the Exome Variant Server ANKUB1_000035 9/4566 0/3182 9/1384
1 c.345G>T r.(=) p.(=) g.149498132C>A Copied from the Exome Variant Server ANKUB1_000034 53/4566 51/3182 2/1384
1 c.370G>A r.(?) p.(Val124Met) g.149498107C>T Copied from the Exome Variant Server ANKUB1_000033 1/4566 1/3182 0/1384
1 c.380A>G r.(?) p.(Tyr127Cys) g.149498097T>C Copied from the Exome Variant Server ANKUB1_000032 44/4566 40/3182 4/1384
1 c.388C>T r.(?) p.(Arg130*) g.149498089G>A Copied from the Exome Variant Server ANKUB1_000031 6/4566 0/3182 6/1384
1 c.410T>C r.(?) p.(Met137Thr) g.149498067A>G Copied from the Exome Variant Server ANKUB1_000030 2/4566 0/3182 2/1384
1 c.420C>T r.(=) p.(=) g.149498057G>A Copied from the Exome Variant Server ANKUB1_000028 1/4566 0/3182 1/1384
1 c.451+45G>A r.(=) p.(=) g.149497981C>T Copied from the Exome Variant Server ANKUB1_000026 9/4566 8/3182 1/1384
1 c.451+46T>C r.(=) p.(=) g.149497980A>G Copied from the Exome Variant Server ANKUB1_000024 21/4566 0/3182 21/1384
1 c.452-30G>C r.(=) p.(=) g.149488491C>G Copied from the Exome Variant Server ANKUB1_000022 59/4566 1/3182 58/1384
1 c.452-14C>G r.(=) p.(=) g.149488475G>C Copied from the Exome Variant Server ANKUB1_000019 1/4566 1/3182 0/1384
1 c.471T>C r.(=) p.(=) g.149488442A>G Copied from the Exome Variant Server ANKUB1_000017 1780/4566 965/3182 815/1384
1 c.517C>T r.(?) p.(Gln173*) g.149488396G>A Copied from the Exome Variant Server ANKUB1_000015 1/4566 1/3182 0/1384
1 c.536G>A r.(?) p.(Arg179His) g.149488377C>T Copied from the Exome Variant Server ANKUB1_000013 1/4566 1/3182 0/1384
1 c.567-20_567-19insC r.(=) p.(=) g.149485901_149485902insG Copied from the Exome Variant Server ANKUB1_000012 1577/6466 1320/4296 257/2170
1 c.567-10A>T r.(=) p.(=) g.149485892T>A Copied from the Exome Variant Server ANKUB1_000010 1/4566 0/3182 1/1384
1 c.614T>C r.(?) p.(Ile205Thr) g.149485835A>G Copied from the Exome Variant Server ANKUB1_000008 21/4566 0/3182 21/1384
1 c.648G>A r.(=) p.(=) g.149485801C>T Copied from the Exome Variant Server ANKUB1_000006 20/4566 20/3182 0/1384
1 c.649C>T r.(?) p.(Arg217Trp) g.149485800G>A Copied from the Exome Variant Server ANKUB1_000029 6/4566 1/3182 5/1384
1 c.658G>A r.(?) p.(Glu220Lys) g.149485791C>T Copied from the Exome Variant Server ANKUB1_000027 1/4566 1/3182 0/1384
1 c.710C>A r.(?) p.(Ala237Glu) g.149485739G>T Copied from the Exome Variant Server ANKUB1_000025 1/4566 1/3182 0/1384
1 c.824A>G r.(?) p.(Gln275Arg) g.149485625T>C Copied from the Exome Variant Server ANKUB1_000023 1/4566 1/3182 0/1384
1 c.868G>A r.(?) p.(Val290Ile) g.149485581C>T Copied from the Exome Variant Server ANKUB1_000021 73/4566 0/3182 73/1384
1 c.869T>C r.(?) p.(Val290Ala) g.149485580A>G Copied from the Exome Variant Server ANKUB1_000020 8/4566 8/3182 0/1384
1 c.876T>C r.(=) p.(=) g.149485573A>G Copied from the Exome Variant Server ANKUB1_000018 1/4566 1/3182 0/1384
1 c.918T>G r.(?) p.(Ile306Met) g.149485531A>C Copied from the Exome Variant Server ANKUB1_000016 65/4566 4/3182 61/1384
1 c.928A>G r.(?) p.(Met310Val) g.149485521T>C Copied from the Exome Variant Server ANKUB1_000014 1/4566 1/3182 0/1384
1 c.929T>C r.(?) p.(Met310Thr) g.149485520A>G Copied from the Exome Variant Server ANKUB1_000011 1/4566 1/3182 0/1384
1 c.1156A>G r.(?) p.(Ser386Gly) g.149485293T>C Copied from the Exome Variant Server ANKUB1_000009 1551/4566 1266/3182 285/1384
1 c.1331C>T r.(?) p.(Thr444Ile) g.149485118G>A Copied from the Exome Variant Server ANKUB1_000007 1/4566 1/3182 0/1384
1 c.1479C>T r.(=) p.(=) g.149484970G>A Copied from the Exome Variant Server ANKUB1_000005 193/4566 175/3182 18/1384
1 c.1500G>A r.(=) p.(=) g.149484949C>T Copied from the Exome Variant Server ANKUB1_000004 6/4566 0/3182 6/1384
1 c.1588C>T r.(?) p.(Arg530*) g.149479318G>A Copied from the Exome Variant Server ANKUB1_000003 1/4566 1/3182 0/1384
1 c.1589G>A r.(?) p.(Arg530Gln) g.149479317C>T Copied from the Exome Variant Server ANKUB1_000002 19/4566 1/3182 18/1384
1 c.1622A>G r.(?) p.(Glu541Gly) g.149479284T>C Copied from the Exome Variant Server ANKUB1_000001 6/4566 6/3182 0/1384
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