Unique variants in gene AR

Information The variants shown are described using the NM_000044.3 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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.168_182del r.(?) p.(Leu57_Gln61del) g.66765156_66765170del - AR_000001 rs779780641 0.001938 1 516 3543 - - Admin
./. 1 - c.171_179del r.(?) p.(Gln78_Gln80del) g.66765159_66765167del - AR_000002 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.171_179dup r.(?) p.(Gln78_Gln80dup) g.66765159_66765167dup - AR_000003 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.173A>T r.(?) p.(Gln58Leu) g.66765161A>T - AR_000004 rs200185441 0.007317 3 410 2314 - - Admin
./. 1 - c.174_179del r.(?) p.(Gln79_Gln80del) g.66765162_66765167del - AR_000006 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.174_179dup r.(?) p.(Gln79_Gln80dup) g.66765162_66765167dup - AR_000005 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.177_179del r.(?) p.(Gln80del) g.66765165_66765167del - AR_000007 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.177_179dup r.(?) p.(Gln80dup) g.66765165_66765167dup - AR_000008 rs1254269585 0.001938 1 516 8769 1 - Admin
./. 1 - c.240_254del r.(?) p.(Glu81_Arg85del) g.66765228_66765242del - AR_000009 rs760212907 - - - - - - Admin
./. 1 - c.597G>A r.(=) p.(=) g.66765585G>A - AR_000010 rs746464635 0.001938 1 516 8603 - - Admin
./. 1 - c.639G>A r.(=) p.(=) g.66765627G>A - AR_000012 rs6152 0.225 116 516 10602 - - Admin
./. 1 - c.1029T>C r.(=) p.(=) g.66766017T>C - AR_000014 rs113983339 0.001938 1 516 8721 - - Admin
./. 1 - c.1174C>T r.(?) p.(Pro392Ser) g.66766162C>T - AR_000016 rs201934623 0.003876 2 516 6969 - - Admin
./. 1 - c.1208C>T r.(?) p.(Ala403Val) g.66766196C>T - AR_000018 rs772490323 0.001938 1 516 5533 - - Admin
./. 1 - c.1369_1389del r.(?) p.(Gly467_Gly473del) g.66766357_66766377del - AR_000020 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1375_1389del r.(?) p.(Gly469_Gly473del) g.66766363_66766377del - AR_000022 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1378_1389del r.(?) p.(Gly470_Gly473del) g.66766366_66766377del - AR_000024 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1381_1389del r.(?) p.(Gly471_Gly473del) g.66766369_66766377del - AR_000026 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1384_1389del r.(?) p.(Gly472_Gly473del) g.66766372_66766377del - AR_000028 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1387_1389dup r.(?) p.(Gly473dup) g.66766375_66766377dup - AR_000030 rs748538566 0.001938 1 516 5533 - - Admin
./. 1 - c.1616+22265G>C r.(=) p.(=) g.66788869G>C - AR_000031 - 0.001938 1 516 7737 1 - Admin
./. 1 - c.1616+22451del r.(=) p.(=) g.66789055del - AR_000032 rs1221239508 0.001938 1 516 7737 1 - Admin
./. 1 - c.1616+22453G>T r.(=) p.(=) g.66789057G>T - AR_000033 rs113613897 0.033 17 510 2203 - - Admin
./. 1 - c.1743G>A r.(=) p.(=) g.66863224G>A - AR_000034 rs6154 0.001938 1 516 3836 - - Admin
./. 1 - c.1792A>G r.(?) p.(Ser598Gly) g.66905875A>G - AR_000011 rs142280455 0.003876 2 516 5202 - - Admin
./. 1 - c.1885+72A>C r.(=) p.(=) g.66906040A>C - AR_000013 rs898583374 0.003876 2 516 3584 - 1 Admin
./. 1 - c.1885+3455C>T r.(=) p.(=) g.66909423C>T - AR_000015 rs1337075 0.017 9 516 5846 - - Admin
./. 1 - c.1885+8422C>T r.(=) p.(=) g.66914390C>T - AR_000017 rs111830907 0.001938 1 516 4374 - - Admin
./. 1 - c.1886-60G>A r.(=) p.(=) g.66931184G>A - AR_000019 rs146283342 0.001938 1 516 6205 - - Admin
./. 1 - c.2319-78T>G r.(=) p.(=) g.66941597T>G - AR_000021 rs1337076 0.939 428 456 1444 - - Admin
./. 1 - c.2449+37G>T r.(=) p.(=) g.66941842G>T - AR_000023 rs747854050 0.001938 1 516 6897 - - Admin
./. 1 - c.2450-44G>A r.(=) p.(=) g.66942625G>A - AR_000025 rs5031002 0.005814 3 516 3290 - - Admin
./. 1 - c.2607+47G>C r.(=) p.(=) g.66942873G>C - AR_000027 rs183007868 0.001953 1 512 2033 - - Admin
./. 1 - c.2607+59A>G r.(=) p.(=) g.66942885A>G - AR_000029 - 0.001961 1 510 1764 1 - Admin
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