Unique variants in gene AASS

Information The variants shown are described using the NM_005763.3 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-2A>G r.(=) p.(=) g.121773782T>C - AASS_000022 rs279702 0.001938 1 516 3016 - - Admin
./. 1 - c.211-74C>A r.(=) p.(=) g.121769665G>T - AASS_000020 rs1008324063 0.001992 1 502 978 1 - Admin
./. 1 - c.388-125T>A r.(=) p.(=) g.121766638A>T - AASS_000036 rs2302338 0.124 57 458 1011 - - Admin
./. 1 - c.473-66G>A r.(=) p.(=) g.121758750C>T - AASS_000035 rs181584412 0.002024 1 494 1138 - - Admin
./. 1 - c.621G>A r.(=) p.(=) g.121758427C>T - AASS_000034 rs190793045 0.001938 1 516 9041 - - Admin
./. 1 - c.687+71C>G r.(=) p.(=) g.121758290G>C - AASS_000033 rs279677 0.558 287 514 4211 - - Admin
./. 1 - c.688-15A>G r.(=) p.(=) g.121757026T>C - AASS_000032 rs279676 0.069 35 506 1431 - - Admin
./. 1 - c.894+17C>T r.(=) p.(=) g.121756670G>A - AASS_000031 rs17532544 0.001938 1 516 3812 - - Admin
./. 1 - c.895-100T>A r.(=) p.(=) g.121755376A>T - AASS_000030 rs6947355 0.001969 1 508 1180 - - Admin
./. 1 - c.1044-60_1044-59insT r.(=) p.(=) g.121753833_121753834insA - AASS_000029 rs987307040 - - - - - - Admin
./. 1 - c.1107T>C r.(=) p.(=) g.121753711A>G - AASS_000028 rs61750983 0.003876 2 516 8873 - - Admin
./. 1 - c.1179G>A r.(=) p.(=) g.121753271C>T - AASS_000027 rs139733515 0.001938 1 516 8130 - - Admin
./. 1 - c.1279-123T>G r.(=) p.(=) g.121741857A>C - AASS_000026 rs13223149 0.052 26 502 1343 - - Admin
./. 1 - c.1293G>A r.(=) p.(=) g.121741720C>T - AASS_000025 rs34901960 0.001938 1 516 7170 - - Admin
./. 1 - c.1338+67_1338+68del r.(=) p.(=) g.121741607_121741608del - AASS_000024 - 0.001938 1 516 2603 1 - Admin
./. 1 - c.1407-18_1407-17del r.(=) p.(=) g.121738937_121738938del - AASS_000023 rs772266712 0.003876 2 516 5865 - - Admin
./. 1 - c.1407-18_1407-7del r.(=) p.(=) g.121738927_121738938del - AASS_000021 rs772266712 0.003876 2 516 5865 - - Admin
./. 1 - c.1473A>G r.(?) p.(Ile491Met) g.121738854T>C - AASS_000019 rs147394896 0.003876 2 516 5865 - - Admin
./. 1 - c.1528+45C>T r.(=) p.(=) g.121738754G>A - AASS_000018 rs117226618 0.005814 3 516 2945 - - Admin
./. 1 - c.1554A>C r.(?) p.(Glu518Asp) g.121738605T>G - AASS_000017 rs142898814 0.001938 1 516 2888 - - Admin
./. 1 - c.1678C>T r.(?) p.(Pro560Ser) g.121733190G>A - AASS_000015 rs74882337 0.003876 2 516 7109 - - Admin
./. 1 - c.1875+118del r.(=) p.(=) g.121732779del - AASS_000013 rs796798312 0.012 6 516 4666 - - Admin
./. 1 - c.1875+118dup r.(=) p.(=) g.121732779dup - AASS_000011 rs796798312 0.012 6 516 4666 - - Admin
./. 1 - c.2016+114A>T r.(=) p.(=) g.121731643T>A - AASS_000009 rs10429059 0.012 6 516 4666 - - Admin
./. 1 - c.2016+163C>T r.(=) p.(=) g.121731594G>A - AASS_000007 rs1375002507 0.001938 1 516 2603 1 - Admin
./. 1 - c.2118G>A r.(=) p.(=) g.121726132C>T - AASS_000005 rs149674194 0.001938 1 516 5824 - - Admin
./. 1 - c.2169del r.(?) p.(Thr724Hisfs*2) g.121726081del - AASS_000003 rs1239502048 0.001938 1 516 7712 1 - Admin
./. 1 - c.2184+60C>T r.(=) p.(=) g.121726006G>A - AASS_000016 rs6466812 0.003891 2 514 1607 - - Admin
./. 1 - c.2185-1142G>A r.(=) p.(=) g.121722791C>T - AASS_000014 rs548263757 0.003968 2 504 1287 - - Admin
./. 1 - c.2276C>G r.(?) p.(Thr759Ser) g.121721558G>C - AASS_000012 rs150922740 0.001938 1 516 7797 - - Admin
./. 1 - c.2280+60C>T r.(=) p.(=) g.121721494G>A - AASS_000010 rs963183956 0.001938 1 516 7712 1 - Admin
./. 1 - c.2281-57C>T r.(=) p.(=) g.121719823G>A - AASS_000008 rs1206369 0.504 250 496 1318 - - Admin
./. 1 - c.2396+65G>A r.(=) p.(=) g.121719586C>T - AASS_000006 rs1206368 0.554 286 516 2822 - - Admin
./. 1 - c.2486-35T>C r.(=) p.(=) g.121718103A>G - AASS_000004 - 0.001953 1 512 1938 1 - Admin
./. 1 - c.2729G>A r.(?) p.(Arg910Gln) g.121716595C>T - AASS_000002 rs770967736 0.003876 2 516 5136 - - Admin
./. 1 - c.2762A>G r.(?) p.(Gln921Arg) g.121716562T>C - AASS_000001 rs140285200 0.003876 2 516 3779 - - Admin
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