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37165 entries on 372 pages. Showing entries 1 - 100.
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AscendingGene     

Name     

Transcript     

NCBI Protein ID     

Chr     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Variant_disease     

Owner     

Effect     

DNA change (cDNA)     

Protein     

GVS function     

Splice distance     

Position     

Location     

Exon     

PolyPhen     

RNA change     

SIFT     
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266473G>A - - - AARS2_000090 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1811C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266564G>A - - - AARS2_000091 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1720C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266565A>G - - - AARS2_000087 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1719T>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266574C>A - - - AARS2_000088 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1710G>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266578G>A - - - AARS2_000089 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1706C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266648_44266649insTT - - - AARS2_000074 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1635_*1636insAA p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266681G>C - - - AARS2_000075 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1603C>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266708T>C - - - AARS2_000076 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1576A>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266735G>A - - - AARS2_000077 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1549C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266799C>T - - - AARS2_000078 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1485G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266811del - - - AARS2_000079 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1473del p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266925T>C - - - AARS2_000080 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1359A>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266984G>A - - - AARS2_000081 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1300C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44266997_44267000del - - - AARS2_000082 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1284_*1287del p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267000del - - - AARS2_000083 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1284del p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267032T>G - - - AARS2_000084 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1252A>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267171_44267172insT - - - AARS2_000085 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1112_*1113insA p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267287C>A - - - AARS2_000086 - - - ; clinvar; - - - - Lishuang Shen ./. c.*997G>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267358G>A - - - AARS2_000011 - - - ; clinvar; - - - - Lishuang Shen ./. c.*926C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267531G>C - - - AARS2_000012 - - - ; clinvar; - - - - Lishuang Shen ./. c.*753C>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267566G>T - - - AARS2_000013 - - - ; clinvar; - - - - Lishuang Shen ./. c.*718C>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267650_44267651insAGGGCACCCATACC - - - AARS2_000014 - - - ; clinvar; - - - - Lishuang Shen ./. c.*633_*634insGGTATGGGTGCCCT p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267728_44267729insTTTAT - - - AARS2_000015 - - - ; clinvar; - - - - Lishuang Shen ./. c.*555_*556insATAAA p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267861C>T - - - AARS2_000016 - - - ; clinvar; - - - - Lishuang Shen ./. c.*423G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267876C>G - - - AARS2_000017 - - - ; clinvar; - - - - Lishuang Shen ./. c.*408G>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267890G>T - - - AARS2_000018 - - - ; clinvar; - - - - Lishuang Shen ./. c.*394C>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267918A>G - - - AARS2_000019 - - - ; clinvar; - - - - Lishuang Shen ./. c.*366T>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267941C>T - - - AARS2_000020 - - - ; clinvar; - - - - Lishuang Shen ./. c.*343G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44267943C>T - - - AARS2_000021 - - - ; clinvar; - - - - Lishuang Shen ./. c.*341G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268005C>T - - - AARS2_000022 - - - ; clinvar; - - - - Lishuang Shen ./. c.*279G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268022A>G - - - AARS2_000023 - - - ; clinvar; - - - - Lishuang Shen ./. c.*262T>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268028T>C - - - AARS2_000024 - - - ; clinvar; - - - - Lishuang Shen ./. c.*256A>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268275G>A - - - AARS2_000025 - - - ; clinvar; - - - - Lishuang Shen ./. c.*9C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268349C>T - - - AARS2_000026 - - - ; clinvar; - - - - Lishuang Shen ./. c.2893G>A p.(Gly965Arg) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268371T>C - - - AARS2_000027 - - - ; clinvar; - - - - Lishuang Shen ./. c.2871A>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268382C>T - - - AARS2_000028 - - - ; clinvar; - - - - Lishuang Shen ./. c.2860G>A p.(Ala954Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268448C>T - - - AARS2_000029 - - - ; clinvar; - - - - Lishuang Shen ./. c.2794G>A p.(Gly932Ser) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44268985G>A - - - AARS2_000030 - - - ; clinvar; - - - - Lishuang Shen ./. c.2701C>T p.(Arg901Trp) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44269004C>A - - - AARS2_000031 - - - ; clinvar; - - - - Lishuang Shen ./. c.2683-1G>T p.? - - - - - - r.spl? -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44269121G>A - - - AARS2_000032 - - - ; clinvar; - - - - Lishuang Shen ./. c.2679C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44269193C>T - - - AARS2_000033 - - - ; clinvar; - - - - Lishuang Shen ./. c.2607G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44269847T>C - - - AARS2_000034 - - - ; clinvar; - - - - Lishuang Shen ./. c.2548A>G p.(Met850Val) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270175C>T - - - AARS2_000054 - - - ; clinvar; - - - - Lishuang Shen ./. c.2440G>A p.(Val814Met) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270189A>T - - - AARS2_000055 - - - ; clinvar; - - - - Lishuang Shen ./. c.2426T>A p.(Leu809Gln) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270637G>A - - - AARS2_000056 - - - ; clinvar; - - - - Lishuang Shen ./. c.2266C>T p.(Arg756Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270856C>T - - - AARS2_000057 - - - ; clinvar; - - - - Lishuang Shen ./. c.2202G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270870C>T - - - AARS2_000058 - - - ; clinvar; - - - - Lishuang Shen ./. c.2188G>A p.(Val730Met) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270923G>A - - - AARS2_000059 - - - ; clinvar; - - - - Lishuang Shen ./. c.2146-11C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44271036C>T - - - AARS2_000060 - - - ; clinvar; - - - - Lishuang Shen ./. c.2132G>A p.(Arg711His) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44271141T>G - - - AARS2_000061 - - - ; clinvar; - - - - Lishuang Shen ./. c.2027A>C p.(Gln676Pro) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44271910G>A - - - AARS2_000062 - - - ; clinvar; - - - - Lishuang Shen ./. c.2007+8C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272283A>G - - - AARS2_000063 - - - ; clinvar; - - - - Lishuang Shen ./. c.1753-13T>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272284G>C - - - AARS2_000064 - - - ; clinvar; - - - - Lishuang Shen ./. c.1753-14C>G p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272382C>T - - - AARS2_000065 - - - ; clinvar; - - - - Lishuang Shen ./. c.1752G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272452C>G - - - AARS2_000066 - - - ; clinvar; - - - - Lishuang Shen ./. c.1682G>C p.(Arg561Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272473C>T - - - AARS2_000067 - - - ; clinvar; - - - - Lishuang Shen ./. c.1661G>A p.(Arg554His) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272490G>A - - - AARS2_000068 - - - ; clinvar; - - - - Lishuang Shen ./. c.1644C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272513C>T - - - AARS2_000069 - - - ; clinvar; - - - - Lishuang Shen ./. c.1621G>A p.(Glu541Lys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272801G>A - - - AARS2_000070 - - - ; clinvar; - - - - Lishuang Shen ./. c.1569C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272926G>A - - - AARS2_000071 - - - ; clinvar; - - - - Lishuang Shen ./. c.1444C>T p.(Arg482Trp) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44273437G>A - - - AARS2_000072 - - - ; clinvar; - - - - Lishuang Shen ./. c.1387C>T p.(Gln463*) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274104C>T - - - AARS2_000073 - - - ; clinvar; - - - - Lishuang Shen ./. c.1213G>A p.(Glu405Lys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274121T>C - - - AARS2_000035 - - - ; clinvar; - - - - Lishuang Shen ./. c.1196A>G p.(Asn399Ser) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274125C>T - - - AARS2_000036 - - - ; clinvar; - - - - Lishuang Shen ./. c.1192G>A p.(Ala398Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274142_44274144del - - - AARS2_000037 - - - ; clinvar; - - - - Lishuang Shen ./. c.1189-16_1189-14del p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274725T>A - - - AARS2_000038 - - - ; clinvar; - - - - Lishuang Shen ./. c.1084A>T p.(Met362Leu) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44274985C>T - - - AARS2_000039 - - - ; clinvar; - - - - Lishuang Shen ./. c.1040+1G>A p.? - - - - - - r.spl? -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44275059C>T - - - AARS2_000040 - - - ; clinvar; - - - - Lishuang Shen ./. c.967G>A p.(Val323Met) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44275111G>A - - - AARS2_000041 - - - ; clinvar; - - - - Lishuang Shen ./. c.915C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278051G>A - - - AARS2_000042 - - - ; clinvar; - - - - Lishuang Shen ./. c.879C>T p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278058G>A - - - AARS2_000043 - - - ; clinvar; - - - - Lishuang Shen ./. c.872C>T p.(Pro291Leu) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278069G>T - - - AARS2_000044 - - - ; clinvar; - - - - Lishuang Shen ./. c.861C>A p.(Asp287Glu) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278145C>T - - - AARS2_000045 - - - ; clinvar; - - - - Lishuang Shen ./. c.785G>A p.(Arg262Gln) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278169C>G - - - AARS2_000046 - - - ; clinvar; - - - - Lishuang Shen ./. c.761G>C p.(Gly254Ala) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44279824C>T - - - AARS2_000047 - - - ; clinvar; - - - - Lishuang Shen ./. c.420G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44279836A>G - - - AARS2_000048 - - - ; clinvar; - - - - Lishuang Shen ./. c.408T>C p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44279976C>G - - - AARS2_000049 - - - ; clinvar; - - - - Lishuang Shen ./. c.268G>C p.(Val90Leu) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44280812C>T - - - AARS2_000050 - - - ; clinvar; - - - - Lishuang Shen ./. c.243+6G>A p.(=) - - - - - - r.(=) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44280912A>C - - - AARS2_000051 - - - ; clinvar; - - - - Lishuang Shen ./. c.149T>G p.(Phe50Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44281036C>T - - - AARS2_000052 - - - ; clinvar; - - - - Lishuang Shen ./. c.25G>A p.(Ala9Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44281039C>A - - - AARS2_000053 - - - ; clinvar; - - - - Lishuang Shen ./. c.22G>T p.(Ala8Ser) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown subst g.44272249G>A - 0.272 - AARS2_000003 MSCV_0001186 rs138119149 - ; clinVar; 25058219;21549344 - - - - +/+ c.1774C>T p.(Arg592Trp) missense_variant - - - 13/22 possibly_damaging(0.806) r.(?) deleterious(0)
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown ins g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; - - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown subst g.44279244A>C - 4.880 - AARS2_000002 MSCV_0001188 rs387907061 - ; clinVar; 21549344;24808023 - - - - +/+ c.464T>G p.(Leu155Arg) missense_variant - - - 3/22 probably_damaging(1) r.(?) deleterious(0)
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44270547C>T - - - AARS2_000009 MSCV_0021683 - - ; clinvar; - - - - - ./. c.2356G>A p.(Ala786Thr) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272249G>A - - - AARS2_000003 MSCV_0001186 - - ; clinvar; - - - - - ./. c.1774C>T p.(Arg592Trp) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272474G>A - - - AARS2_000006 MSCV_0021685 - - ; clinvar; - - - - - ./. c.1660C>T p.(Arg554Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272809G>A - - - AARS2_000007 MSCV_0021686 - - ; clinvar; - - - - - ./. c.1561C>T p.(Arg521*) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44272836C>G - - - AARS2_000008 MSCV_0021687 - - ; clinvar; - - - - - ./. c.1534G>C p.(Asp512His) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44275041G>A - - - AARS2_000005 MSCV_0021688 - - ; clinvar; - - - - - ./. c.985C>T p.(Arg329Cys) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44278832_44278833insC - - - AARS2_000001 MSCV_0001187 - - ; clinvar; - - - - - ./. c.647_648insG p.(Cys218Leufs*6) - - - - - - r.(?) -
AARS2 alanyl-tRNA synthetase 2, mitochondrial NM_020745.3 NP_065796.1 6 Unknown - g.44279244A>C - - - AARS2_000002 MSCV_0001188 - - ; clinvar; - - - - - ./. c.464T>G p.(Leu155Arg) - - - - - - r.(?) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266473G>A - - - AARS2_000090 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1811C>T p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266564G>A - - - AARS2_000091 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1720C>T p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266565A>G - - - AARS2_000087 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1719T>C p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266574C>A - - - AARS2_000088 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1710G>T p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266578G>A - - - AARS2_000089 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1706C>T p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266648_44266649insTT - - - AARS2_000074 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1635_*1636insAA p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266681G>C - - - AARS2_000075 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1603C>G p.(=) - - - - - - r.(=) -
AARS2 transcript variant X1 XM_005249245.1 XP_005249302.1 6 Unknown - g.44266708T>C - - - AARS2_000076 - - - ; clinvar; - - - - Lishuang Shen ./. c.*1576A>G p.(=) - - - - - - r.(=) -
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