Unique variants in gene IARS2

Information The variants shown are described using the NM_018060.3 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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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.23G>T r.(?) p.(Arg8Leu) g.220267581G>T - IARS2_000001 rs149324758 0.014 7 516 7209 - - Admin
./. 1 - c.41C>T r.(?) p.(Ala14Val) g.220267599C>T - IARS2_000002 rs2577154 0.016 8 516 8392 - - Admin
./. 1 - c.111G>C r.(=) p.(=) g.220267669G>C - IARS2_000003 rs116823205 0.016 8 516 9661 - - Admin
./. 1 - c.267+9C>T r.(=) p.(=) g.220267834C>T - IARS2_000004 rs968171487 0.001938 1 516 6450 1 - Admin
./. 1 - c.268-7A>T r.(=) p.(=) g.220269439A>T - IARS2_000005 rs78836180 0.051 26 506 2461 - - Admin
./. 1 - c.390+7A>G r.(=) p.(=) g.220269575A>G - IARS2_000006 rs35204279 0.001938 1 516 5371 - - Admin
./. 1 - c.390+10A>G r.(=) p.(=) g.220269578A>G - IARS2_000007 rs201829262 0.003876 2 516 5175 - - Admin
./. 1 - c.391-85_391-24del r.(=) p.(=) g.220273747_220273808del - IARS2_000008 - 0.001938 1 516 6450 1 - Admin
./. 1 - c.405A>T r.(=) p.(=) g.220273846A>T - IARS2_000009 - 0.001938 1 516 5158 1 - Admin
./. 1 - c.551-38A>T r.(=) p.(=) g.220275433A>T - IARS2_000010 rs201063152 0.001938 1 516 2581 - - Admin
./. 1 - c.699+40G>A r.(=) p.(=) g.220275659G>A - IARS2_000011 rs372276818 0.001938 1 516 7372 - - Admin
./. 1 - c.700-36A>G r.(=) p.(=) g.220275669A>G - IARS2_000012 rs189084759 0.001938 1 516 7437 - - Admin
./. 1 - c.700-11G>C r.(=) p.(=) g.220275694G>C - IARS2_000013 rs182226161 0.005814 3 516 7769 - - Admin
./. 1 - c.942T>C r.(=) p.(=) g.220276111T>C - IARS2_000014 rs148564492 0.001938 1 516 4243 - - Admin
./. 1 - c.1164G>A r.(=) p.(=) g.220279330G>A - IARS2_000015 rs143373097 0.005814 3 516 9247 - - Admin
./. 1 - c.1328-15del r.spl? p.? g.220284113del - IARS2_000016 rs199649609 0.008333 4 480 1170 - - Admin
./. 1 - c.1564A>G r.(?) p.(Ile522Val) g.220287740A>G - IARS2_000017 rs11800305 0.005814 3 516 7843 - - Admin
./. 1 - c.1640+3598_1640+3599insTC r.(=) p.(=) g.220291414_220291415insTC - IARS2_000018 rs201255457 - - - - - - Admin
./. 1 - c.1640+3602T>C r.(=) p.(=) g.220291418T>C - IARS2_000019 rs139568926 0.001938 1 516 2432 - - Admin
./. 1 - c.1640+3665C>T r.(=) p.(=) g.220291481C>T - IARS2_000020 rs761615738 0.001938 1 516 4400 - - Admin
./. 1 - c.1640+3671T>C r.(=) p.(=) g.220291487T>C - IARS2_000021 rs3820455 0.047 24 516 4505 - - Admin
./. 1 - c.1640+3812G>A r.(=) p.(=) g.220291628G>A - IARS2_000022 rs149286404 0.003906 2 512 1868 - - Admin
./. 1 - c.1640+3897C>T r.(=) p.(=) g.220291713C>T - IARS2_000023 rs78379784 0.037 15 406 572 - - Admin
./. 1 - c.1726A>G r.(?) p.(Lys576Glu) g.220298664A>G - IARS2_000024 rs78770848 0.016 8 516 8109 - - Admin
./. 1 - c.1744-57T>C r.(=) p.(=) g.220300035T>C - IARS2_000025 rs2289191 0.056 29 516 8108 - - Admin
./. 1 - c.1837+27G>A r.(=) p.(=) g.220300212G>A - IARS2_000026 rs146891512 0.003876 2 516 4840 - - Admin
./. 1 - c.1838-68A>G r.(=) p.(=) g.220307676A>G - IARS2_000027 rs35775533 0.063 28 442 650 - - Admin
./. 1 - c.1838-21C>T r.(=) p.(=) g.220307723C>T - IARS2_000028 rs775887505 0.008065 4 496 1636 - - Admin
./. 1 - c.1882C>T r.(?) p.(Leu628Phe) g.220307788C>T - IARS2_000029 rs201006804 0.001938 1 516 5394 - - Admin
./. 1 - c.1946+43T>C r.(=) p.(=) g.220307895T>C - IARS2_000030 rs187701123 0.001938 1 516 7231 - - Admin
./. 1 - c.2049+94A>C r.(=) p.(=) g.220310347A>C - IARS2_000031 rs74902866 0.051 26 508 1624 - - Admin
./. 1 - c.2111A>T r.(?) p.(Asn704Ile) g.220311321A>T - IARS2_000032 rs138738853 0.003876 2 516 6119 - - Admin
./. 1 - c.2176-47G>A r.(=) p.(=) g.220312303G>A - IARS2_000033 rs114389757 0.00969 5 516 3426 - - Admin
./. 1 - c.2247A>C r.(=) p.(=) g.220312421A>C - IARS2_000034 rs189498035 0.001938 1 516 6399 - - Admin
./. 1 - c.2307+57A>G r.(=) p.(=) g.220312538A>G - IARS2_000035 - 0.001961 1 510 1817 1 - Admin
./. 1 - c.2308-28del r.(=) p.(=) g.220313497del - IARS2_000036 rs746846661 0.001938 1 516 6980 - - Admin
./. 1 - c.2415-169C>T r.(=) p.(=) g.220314976C>T - IARS2_000037 rs146345863 0.012 6 512 1851 - - Admin
./. 1 - c.2691T>C r.(=) p.(=) g.220316416T>C - IARS2_000038 rs147694424 0.001938 1 516 6502 - - Admin
./. 1 - c.2804T>C r.(?) p.(Met935Thr) g.220318903T>C - IARS2_000039 rs777760234 0.001938 1 516 5042 - - Admin
./. 1 - c.2896+12A>G r.(=) p.(=) g.220319007A>G - IARS2_000040 rs75519000 0.076 39 516 2696 - - Admin
./. 1 - c.2897-47A>G r.(=) p.(=) g.220320788A>G - IARS2_000041 - 0.001969 1 508 1353 1 - Admin
./. 1 - c.3019G>C r.(?) p.(Glu1007Gln) g.220320957G>C - IARS2_000042 rs141564642 0.003876 2 516 7369 - - Admin
./. 1 - c.*46A>G r.(=) p.(=) g.220321023A>G - IARS2_000043 rs11095 0.163 84 516 5673 - - Admin
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