NC_000001.11:g.(?_32775971)_(32797853_?)dup
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NC_000001.11:g.(?_32810581)_(32811067_?)del
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NC_000001.11:g.(?_32810591)_(32811057_?)del
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NM_003680.3(YARS1):c.*138G>A
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rs41265857 |
NM_003680.3(YARS1):c.*21C>A
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rs149812692 |
NM_003680.3(YARS1):c.*284A>G
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rs150690731 |
NM_003680.3(YARS1):c.*293A>G
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rs16866009 |
NM_003680.3(YARS1):c.*369G>A
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rs879511403 |
NM_003680.3(YARS1):c.*386G>T
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rs144131403 |
NM_003680.3(YARS1):c.*399G>A
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rs890588915 |
NM_003680.3(YARS1):c.*439T>C
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rs184249741 |
NM_003680.3(YARS1):c.*539A>G
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rs550239801 |
NM_003680.3(YARS1):c.*599A>C
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rs542816112 |
NM_003680.3(YARS1):c.*680A>G
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rs536402126 |
NM_003680.3(YARS1):c.*681T>G
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rs78319035 |
NM_003680.3(YARS1):c.*724T>C
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rs950577466 |
NM_003680.3(YARS1):c.1008G>A (p.Leu336=)
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rs140232925 |
NM_003680.3(YARS1):c.1012A>G (p.Ser338Gly)
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rs763921769 |
NM_003680.3(YARS1):c.1014C>G (p.Ser338Arg)
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NM_003680.3(YARS1):c.1015G>A (p.Ala339Thr)
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rs141323599 |
NM_003680.3(YARS1):c.1042+3A>C
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rs772446297 |
NM_003680.3(YARS1):c.1048A>G (p.Met350Val)
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rs1553122785 |
NM_003680.3(YARS1):c.1049T>C (p.Met350Thr)
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rs1490757097 |
NM_003680.3(YARS1):c.1079C>A (p.Pro360Gln)
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rs562054969 |
NM_003680.3(YARS1):c.1080A>G (p.Pro360=)
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rs752514117 |
NM_003680.3(YARS1):c.1082A>T (p.Glu361Val)
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rs61737106 |
NM_003680.3(YARS1):c.1094del (p.Pro365fs)
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rs1413975578 |
NM_003680.3(YARS1):c.1099C>T (p.Arg367Trp)
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rs376054085 |
NM_003680.3(YARS1):c.1100G>A (p.Arg367Gln)
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rs762473756 |
NM_003680.3(YARS1):c.1117G>A (p.Gly373Arg)
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rs764584188 |
NM_003680.3(YARS1):c.112del (p.Ile38fs)
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NM_003680.3(YARS1):c.1138A>C (p.Lys380Gln)
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rs1405248711 |
NM_003680.3(YARS1):c.1141-9C>G
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rs761211081 |
NM_003680.3(YARS1):c.1175T>C (p.Ile392Thr)
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rs749411607 |
NM_003680.3(YARS1):c.1179C>T (p.Asp393=)
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rs373909518 |
NM_003680.3(YARS1):c.1180G>A (p.Val394Met)
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rs863224717 |
NM_003680.3(YARS1):c.1198C>T (p.Arg400Trp)
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rs1179946635 |
NM_003680.3(YARS1):c.1218G>C (p.Leu406=)
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rs699005 |
NM_003680.3(YARS1):c.121G>A (p.Gly41Arg)
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rs121908833 |
NM_003680.3(YARS1):c.1227C>A (p.Phe409Leu)
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NM_003680.3(YARS1):c.1228G>A (p.Val410Met)
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rs146393022 |
NM_003680.3(YARS1):c.122G>A (p.Gly41Glu)
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rs1569778143 |
NM_003680.3(YARS1):c.1246C>A (p.Gln416Lys)
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rs76611863 |
NM_003680.3(YARS1):c.1275C>T (p.Asn425=)
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rs778718842 |
NM_003680.3(YARS1):c.1281dup (p.Pro428fs)
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NM_003680.3(YARS1):c.1291A>T (p.Met431Leu)
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rs149620809 |
NM_003680.3(YARS1):c.1348C>T (p.Arg450Cys)
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rs141955005 |
NM_003680.3(YARS1):c.1349G>A (p.Arg450His)
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NM_003680.3(YARS1):c.1349G>C (p.Arg450Pro)
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rs147005844 |
NM_003680.3(YARS1):c.135G>A (p.Thr45=)
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NM_003680.3(YARS1):c.1374G>A (p.Pro458=)
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rs151227410 |
NM_003680.3(YARS1):c.1405del (p.Phe468_Val469insTer)
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rs777156625 |
NM_003680.3(YARS1):c.1418A>G (p.Glu473Gly)
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NM_003680.3(YARS1):c.1435G>A (p.Glu479Lys)
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NM_003680.3(YARS1):c.1476+2T>C
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rs1553122620 |
NM_003680.3(YARS1):c.1486A>G (p.Lys496Glu)
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rs200375230 |
NM_003680.3(YARS1):c.1487A>C (p.Lys496Thr)
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NM_003680.3(YARS1):c.1487A>G (p.Lys496Arg)
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rs768160751 |
NM_003680.3(YARS1):c.1507G>A (p.Ala503Thr)
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rs778099655 |
NM_003680.3(YARS1):c.1507G>T (p.Ala503Ser)
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rs778099655 |
NM_003680.3(YARS1):c.1514G>A (p.Trp505Ter)
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rs1553122276 |
NM_003680.3(YARS1):c.1531A>G (p.Met511Val)
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rs1569696187 |
NM_003680.3(YARS1):c.1549A>G (p.Ile517Val)
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rs371220818 |
NM_003680.3(YARS1):c.1570G>C (p.Gly524Arg)
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NM_003680.3(YARS1):c.1571G>C (p.Gly524Ala)
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rs201687117 |
NM_003680.3(YARS1):c.1574G>A (p.Gly525Glu)
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NM_003680.3(YARS1):c.166A>G (p.Met56Val)
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NM_003680.3(YARS1):c.176T>C (p.Ile59Thr)
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rs774466323 |
NM_003680.3(YARS1):c.177T>G (p.Ile59Met)
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NM_003680.3(YARS1):c.178G>A (p.Ala60Thr)
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rs367649729 |
NM_003680.3(YARS1):c.181G>A (p.Asp61Asn)
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rs776582429 |
NM_003680.3(YARS1):c.205-2A>G
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rs538137948 |
NM_003680.3(YARS1):c.209C>G (p.Thr70Arg)
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rs771657997 |
NM_003680.3(YARS1):c.209C>T (p.Thr70Ile)
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NM_003680.3(YARS1):c.211A>G (p.Ile71Val)
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rs145768628 |
NM_003680.3(YARS1):c.221C>T (p.Ala74Val)
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rs1429267110 |
NM_003680.3(YARS1):c.232G>A (p.Ala78Thr)
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NM_003680.3(YARS1):c.241_242delinsAT (p.Asp81Ile)
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rs786204003 |
NM_003680.3(YARS1):c.260G>A (p.Trp87Ter)
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rs776952611 |
NM_003680.3(YARS1):c.277C>T (p.Arg93Ter)
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NM_003680.3(YARS1):c.294G>C (p.Glu98Asp)
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NM_003680.3(YARS1):c.298G>A (p.Val100Met)
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rs766704849 |
NM_003680.3(YARS1):c.322A>G (p.Ile108Val)
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NM_003680.3(YARS1):c.347A>T (p.Lys116Met)
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NM_003680.3(YARS1):c.362C>G (p.Thr121Ser)
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NM_003680.3(YARS1):c.380+4A>G
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NM_003680.3(YARS1):c.381-6C>T
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rs376982377 |
NM_003680.3(YARS1):c.391C>T (p.Leu131=)
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rs759430430 |
NM_003680.3(YARS1):c.415G>A (p.Val139Met)
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rs772729857 |
NM_003680.3(YARS1):c.424C>A (p.Gln142Lys)
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NM_003680.3(YARS1):c.425A>G (p.Gln142Arg)
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NM_003680.3(YARS1):c.440A>C (p.Lys147Thr)
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rs769290451 |
NM_003680.3(YARS1):c.458_469del (p.Val153_Val156del)
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rs786200893 |
NM_003680.3(YARS1):c.466G>T (p.Val156Leu)
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NM_003680.3(YARS1):c.471G>A (p.Glu157=)
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rs1569769936 |
NM_003680.3(YARS1):c.483G>C (p.Leu161=)
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rs780528629 |
NM_003680.3(YARS1):c.499C>A (p.Pro167Thr)
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rs1279417718 |
NM_003680.3(YARS1):c.502G>A (p.Gly168Arg)
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rs1473184666 |
NM_003680.3(YARS1):c.507G>A (p.Leu169=)
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rs200278380 |
NM_003680.3(YARS1):c.510+10G>C
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rs201272488 |
NM_003680.3(YARS1):c.511-10C>T
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rs376935793 |
NM_003680.3(YARS1):c.511-14G>A
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rs1057515513 |
NM_003680.3(YARS1):c.523G>T (p.Glu175Ter)
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rs1553124472 |
NM_003680.3(YARS1):c.542C>A (p.Ala181Asp)
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rs1191925938 |
NM_003680.3(YARS1):c.546A>G (p.Gln182=)
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rs751440666 |
NM_003680.3(YARS1):c.557T>C (p.Ile186Thr)
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rs766166915 |
NM_003680.3(YARS1):c.569A>G (p.Lys190Arg)
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rs750198437 |
NM_003680.3(YARS1):c.579C>T (p.Thr193=)
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NM_003680.3(YARS1):c.586G>A (p.Glu196Lys)
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rs121908834 |
NM_003680.3(YARS1):c.586G>C (p.Glu196Gln)
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rs121908834 |
NM_003680.3(YARS1):c.60G>A (p.Glu20=)
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rs143712443 |
NM_003680.3(YARS1):c.619C>T (p.Arg207Trp)
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NM_003680.3(YARS1):c.631A>T (p.Met211Leu)
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NM_003680.3(YARS1):c.681A>G (p.Glu227=)
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rs370095798 |
NM_003680.3(YARS1):c.684+3A>G
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rs375332060 |
NM_003680.3(YARS1):c.685-11A>G
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rs751943571 |
NM_003680.3(YARS1):c.695T>G (p.Ile232Ser)
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rs1553123310 |
NM_003680.3(YARS1):c.739_740delinsGC (p.Lys247Ala)
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rs1553123307 |
NM_003680.3(YARS1):c.746T>G (p.Phe249Cys)
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rs1009349245 |
NM_003680.3(YARS1):c.763G>A (p.Val255Met)
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NM_003680.3(YARS1):c.795G>C (p.Lys265Asn)
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rs141482636 |
NM_003680.3(YARS1):c.799G>C (p.Val267Leu)
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NM_003680.3(YARS1):c.819C>T (p.Ser273=)
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NM_003680.3(YARS1):c.821-3T>C
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rs757673905 |
NM_003680.3(YARS1):c.827T>A (p.Val276Glu)
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NM_003680.3(YARS1):c.874T>G (p.Tyr292Asp)
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rs753211165 |
NM_003680.3(YARS1):c.877G>A (p.Val293Met)
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NM_003680.3(YARS1):c.880G>A (p.Asp294Asn)
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rs779432834 |
NM_003680.3(YARS1):c.899C>T (p.Ala300Val)
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NM_003680.3(YARS1):c.937G>A (p.Val313Ile)
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NM_003680.3(YARS1):c.946G>A (p.Ala316Thr)
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rs138454151 |
NM_003680.3:c.1373C>T
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