Unique variants in gene IARS

Information The variants shown are described using the NM_002161.5 transcript reference sequence.

95 entries on 1 page. Showing entries 1 - 95.
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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.-32T>A r.(=) p.(=) g.95055917A>T - IARS_000095 rs28365880 0.029 15 516 1740 - - Admin
./. 1 - c.-8+43G>A r.(=) p.(=) g.95055850C>T - IARS_000094 rs16908264 0.003876 2 516 3299 - - Admin
./. 1 - c.-8+55C>T r.(=) p.(=) g.95055838G>A - IARS_000093 rs189769523 0.003876 2 516 3634 - - Admin
./. 1 - c.-8+158C>T r.(=) p.(=) g.95055735G>A - IARS_000092 rs376256296 0.001938 1 516 5156 - - Admin
./. 1 - c.-8+242_-8+247del r.(=) p.(=) g.95055646_95055651del - IARS_000091 rs551546453 0.076 30 396 690 - - Admin
./. 1 - c.-8+308_-8+312del r.(=) p.(=) g.95055581_95055585del - IARS_000090 rs143232399 0.076 30 396 690 - - Admin
./. 1 - c.-8+898C>G r.(=) p.(=) g.95054995G>C - IARS_000089 rs17678567 0.076 30 396 690 - - Admin
./. 1 - c.-8+1176A>G r.(=) p.(=) g.95054717T>C - IARS_000088 rs1046075860 0.001938 1 516 7391 1 - Admin
./. 1 - c.-8+1185G>C r.(=) p.(=) g.95054708C>G - IARS_000087 rs72750469 0.029 15 516 7060 - - Admin
./. 1 - c.-8+1218A>T r.(=) p.(=) g.95054675T>A - IARS_000086 rs79933128 0.001938 1 516 5161 - - Admin
./. 1 - c.-8+1274G>A r.(=) p.(=) g.95054619C>T - IARS_000085 rs72750468 0.027 14 512 2310 - - Admin
./. 1 - c.-7-91G>A r.(=) p.(=) g.95051799C>T - IARS_000084 rs72750465 0.031 16 516 2738 - - Admin
./. 1 - c.119+15T>C r.(=) p.(=) g.95051568A>G - IARS_000083 rs77772109 0.003876 2 516 2329 - - Admin
./. 1 - c.120-93_120-92insCTT r.(=) p.(=) g.95050656_95050657insAAG - IARS_000082 rs111900522 - - - - - - Admin
./. 1 - c.120-83A>G r.(=) p.(=) g.95050647T>C - IARS_000081 rs13289259 0.016 8 506 1288 - - Admin
./. 1 - c.396+19A>G r.(=) p.(=) g.95050054T>C - IARS_000080 rs16908260 0.047 24 516 5320 - - Admin
./. 1 - c.396+64G>A r.(=) p.(=) g.95050009C>T - IARS_000079 rs72750464 0.003876 2 516 2896 - - Admin
./. 1 - c.397-76A>G r.(=) p.(=) g.95048976T>C - IARS_000078 rs41276829 0.057 28 488 1031 - - Admin
./. 1 - c.407G>A r.(?) p.(Ser136Asn) g.95048890C>T - IARS_000077 rs140259231 0.003876 2 516 3936 - - Admin
./. 1 - c.479+86T>G r.(=) p.(=) g.95048732A>C - IARS_000076 - 0.001938 1 516 1573 1 - Admin
./. 1 - c.745+33T>G r.(=) p.(=) g.95042995A>C - IARS_000075 rs145725162 0.001961 1 510 1726 - - Admin
./. 1 - c.745+111C>G r.(=) p.(=) g.95042917G>C - IARS_000074 rs3736835 0.436 130 298 470 - - Admin
./. 1 - c.746-117A>G r.(=) p.(=) g.95040685T>C - IARS_000073 rs118160724 0.003876 2 516 5336 - - Admin
./. 1 - c.833+12A>G r.(=) p.(=) g.95040469T>C - IARS_000072 rs41276821 0.00969 5 516 2880 - - Admin
./. 1 - c.894+134A>G r.(=) p.(=) g.95040011T>C - IARS_000071 rs113406719 0.005814 3 516 3036 - - Admin
./. 1 - c.894+184_894+185insAAA r.(=) p.(=) g.95039960_95039961insTTT - IARS_000070 rs879733186 - - - - - - Admin
./. 1 - c.894+185del r.(=) p.(=) g.95039960del - IARS_000069 - 0.001938 1 516 2166 1 - Admin
./. 1 - c.894+185_894+186del r.(=) p.(=) g.95039959_95039960del - IARS_000068 - 0.001938 1 516 2166 1 - Admin
./. 1 - c.894+185_894+188del r.(=) p.(=) g.95039957_95039960del - IARS_000067 - 0.001938 1 516 2166 1 - Admin
./. 1 - c.895-100G>A r.(=) p.(=) g.95036903C>T - IARS_000066 rs2295940 0.035 18 514 1350 - - Admin
./. 1 - c.904A>T r.(?) p.(Asn302Tyr) g.95036794T>A - IARS_000065 rs140666586 0.005814 3 516 5143 - - Admin
./. 1 - c.950A>G r.(?) p.(Glu317Gly) g.95036748T>C - IARS_000064 rs114279476 0.007752 4 516 5993 - - Admin
./. 1 - c.951A>C r.(?) p.(Glu317Asp) g.95036747T>G - IARS_000063 rs115825549 0.007752 4 516 5995 - - Admin
./. 1 - c.990+87del r.(=) p.(=) g.95036621del - IARS_000062 rs377496304 0.005814 3 516 3953 - - Admin
./. 1 - c.1114-111_1114-109del r.(=) p.(=) g.95033467_95033469del - IARS_000061 rs150942479 0.005814 3 516 3953 - - Admin
./. 1 - c.1126A>G r.(?) p.(Ser376Gly) g.95033346T>C - IARS_000060 rs73653050 0.005814 3 516 3953 - - Admin
./. 1 - c.1205+112G>A r.(=) p.(=) g.95033155C>T - IARS_000059 rs35351098 0.001938 1 516 4374 - - Admin
./. 1 - c.1206-97A>G r.(=) p.(=) g.95032362T>C - IARS_000058 rs147944344 0.017 9 516 3848 - - Admin
./. 1 - c.1304+27A>C r.(=) p.(=) g.95032140T>G - IARS_000057 rs117357712 0.034 17 504 1543 - - Admin
./. 1 - c.1305-108A>G r.(=) p.(=) g.95030690T>C - IARS_000056 rs2295939 0.088 41 466 808 - - Admin
./. 1 - c.1305-87G>A r.(=) p.(=) g.95030669C>T - IARS_000055 rs7024757 0.006 3 500 972 - - Admin
./. 1 - c.1431+20C>T r.(=) p.(=) g.95030436G>A - IARS_000054 rs188105120 0.001938 1 516 4891 - - Admin
./. 1 - c.1431+44A>G r.(=) p.(=) g.95030412T>C - IARS_000053 rs75769239 0.005814 3 516 4140 - - Admin
./. 1 - c.1432-166T>C r.(=) p.(=) g.95028001A>G - IARS_000052 rs80173221 0.013 5 382 407 - - Admin
./. 1 - c.1505+51G>A r.(=) p.(=) g.95027711C>T - IARS_000051 rs73653049 0.001938 1 516 2564 - - Admin
./. 1 - c.1506-31T>C r.(=) p.(=) g.95027436A>G - IARS_000050 rs10820963 0.198 100 506 1597 - - Admin
./. 1 - c.1787+31A>G r.(=) p.(=) g.95025220T>C - IARS_000049 rs73516561 0.016 8 516 1915 - - Admin
./. 1 - c.1788-121T>C r.(=) p.(=) g.95022637A>G - IARS_000048 rs10820962 0.2 95 476 1183 - - Admin
./. 1 - c.1871+50G>A r.(=) p.(=) g.95022383C>T - IARS_000047 rs41307467 0.029 15 516 5146 - - Admin
./. 1 - c.1871+59A>G r.(=) p.(=) g.95022374T>C - IARS_000046 rs41312194 0.012 6 516 4540 - - Admin
./. 1 - c.1871+111A>G r.(=) p.(=) g.95022322T>C - IARS_000045 rs952217075 0.001938 1 516 2166 1 - Admin
./. 1 - c.1872-119A>G r.(=) p.(=) g.95021399T>C - IARS_000044 rs72750441 0.028 14 492 1268 - - Admin
./. 1 - c.1872-76C>T r.(=) p.(=) g.95021356G>A - IARS_000043 rs545606856 0.001953 1 512 2315 - - Admin
./. 1 - c.2017-89G>T r.(=) p.(=) g.95019171C>A - IARS_000042 rs72750437 0.023 9 398 491 - - Admin
./. 1 - c.2137+35G>A r.(=) p.(=) g.95018927C>T - IARS_000041 rs184105756 0.003891 2 514 3287 - - Admin
./. 1 - c.2137+59T>C r.(=) p.(=) g.95018903A>G - IARS_000040 rs9299403 0.357 183 512 2568 - - Admin
./. 1 - c.2138-634G>A r.(=) p.(=) g.95016369C>T - IARS_000039 rs79102633 0.006122 3 490 1412 - - Admin
./. 1 - c.2138-480G>A r.(=) p.(=) g.95016215C>T - IARS_000038 rs10820960 0.359 185 516 8239 - - Admin
./. 1 - c.2230-564G>T r.(=) p.(=) g.95014731C>A - IARS_000037 rs79387288 0.039 20 516 8165 - - Admin
./. 1 - c.2230-553G>C r.(=) p.(=) g.95014720C>G - IARS_000036 - 0.001938 1 516 8419 1 - Admin
./. 1 - c.2230-550A>C r.(=) p.(=) g.95014717T>G - IARS_000035 rs200271944 0.003876 2 516 8476 - - Admin
./. 1 - c.2230-543_2230-542insATTTCATT r.(=) p.(=) g.95014709_95014710insAATGAAAT - IARS_000034 rs1214317288 - - - - - - Admin
./. 1 - c.2230-518_2230-517del r.(=) p.(=) g.95014684_95014685del - IARS_000033 rs1491340017 0.001938 1 516 4773 1 - Admin
./. 1 - c.2230-359G>A r.(=) p.(=) g.95014526C>T - IARS_000032 rs78402613 0.016 8 492 921 - - Admin
./. 1 - c.2307+85C>T r.(=) p.(=) g.95014005G>A - IARS_000031 - 0.001938 1 516 4773 1 - Admin
./. 1 - c.2308-357_2308-356insC r.(=) p.(=) g.95013472_95013473insG - IARS_000030 rs1316151833 - - - - - - Admin
./. 1 - c.2308-350_2308-349insT r.(=) p.(=) g.95013465_95013466insA - IARS_000029 rs754476899 - - - - - - Admin
./. 1 - c.2308-113T>G r.(=) p.(=) g.95013229A>C - IARS_000028 rs756067087 0.001946 1 514 1794 - - Admin
./. 1 - c.2429+36_2429+104del r.(=) p.(=) g.95012891_95012959del - IARS_000027 - 0.005208 2 384 1057 2 - Admin
./. 1 - c.2463A>G r.(=) p.(=) g.95012538T>C - IARS_000026 rs561762335 0.001938 1 516 8147 - - Admin
./. 1 - c.2532+48_2532+51del r.(=) p.(=) g.95012418_95012421del - IARS_000025 - 0.005208 2 384 1057 2 - Admin
./. 1 - c.2532+108G>T r.(=) p.(=) g.95012361C>A - IARS_000024 rs770171544 0.001938 1 516 3786 - - Admin
./. 1 - c.2533-118_2533-117del r.(=) p.(=) g.95012340_95012341del - IARS_000023 rs142926853 0.014 7 494 1151 - - Admin
./. 1 - c.2616+72G>A r.(=) p.(=) g.95012068C>T - IARS_000022 rs41280223 0.014 7 494 1151 - - Admin
./. 1 - c.2664T>C r.(=) p.(=) g.95009786A>G - IARS_000021 rs2230404 0.025 13 516 7375 - - Admin
./. 1 - c.2792-181C>T r.(=) p.(=) g.95007534G>A - IARS_000020 rs527429403 0.001938 1 516 1410 - - Admin
./. 1 - c.2823C>T r.(=) p.(=) g.95007322G>A - IARS_000019 rs137864896 0.001938 1 516 5909 - - Admin
./. 1 - c.2904+51G>C r.(=) p.(=) g.95007190C>G - IARS_000018 rs764046392 0.001938 1 516 2535 - - Admin
./. 1 - c.2961T>G r.(=) p.(=) g.95005537A>C - IARS_000017 rs2230405 0.029 15 516 5692 - - Admin
./. 1 - c.3136G>A r.(?) p.(Val1046Ile) g.95004477C>T - IARS_000016 rs34737051 0.001938 1 516 7147 - - Admin
./. 1 - c.3177+15C>G r.(=) p.(=) g.95004421G>C - IARS_000015 rs41280213 0.109 56 516 7103 - - Admin
./. 1 - c.3283+281T>A r.(=) p.(=) g.95002857A>T - IARS_000014 rs1338407462 0.005208 2 384 1057 2 - Admin
./. 1 - c.3283+282T>A r.(=) p.(=) g.95002856A>T - IARS_000013 rs1332919435 0.005236 2 382 1029 2 - Admin
./. 1 - c.3284-101T>A r.(=) p.(=) g.94991509A>T - IARS_000012 rs1175931 0.117 55 472 1138 - - Admin
./. 1 - c.3409+50G>A r.(=) p.(=) g.94991233C>T - IARS_000011 rs773916476 0.001938 1 516 7857 - - Admin
./. 1 - c.3409+161_3409+170del r.(=) p.(=) g.94991113_94991122del - IARS_000010 rs370888840 0.001938 1 516 8583 1 - Admin
./. 1 - c.3544A>G r.(?) p.(Lys1182Glu) g.94985637T>C - IARS_000009 rs556155 0.138 71 516 6267 - - Admin
./. 1 - c.3553+100T>C r.(=) p.(=) g.94985528A>G - IARS_000008 rs72750411 0.021 11 516 3808 - - Admin
./. 1 - c.3563T>C r.(?) p.(Met1188Thr) g.94984945A>G - IARS_000007 rs201071417 0.003876 2 516 7320 - - Admin
./. 1 - c.3707-58T>G r.(=) p.(=) g.94973229A>C - IARS_000006 rs141398935 0.001976 1 506 1495 - - Admin
./. 1 - c.3707-23del r.(=) p.(=) g.94973194del - IARS_000005 rs35288957 0.001938 1 516 5147 - - Admin
./. 1 - c.3727G>A r.(?) p.(Val1243Met) g.94973151C>T - IARS_000004 rs144102700 0.001938 1 516 5147 - - Admin
./. 1 - c.*9_*10insT r.(=) p.(=) g.94973079_94973080insA - IARS_000003 rs146772108 - - - - - - Admin
./. 1 - c.*123T>C r.(=) p.(=) g.94972966A>G - IARS_000002 rs1058726 0.103 53 516 3373 - - Admin
./. 1 - c.*173A>T r.(=) p.(=) g.94972916T>A - IARS_000001 rs1058751 0.094 48 512 1822 - - Admin
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