Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44302059C>ACA3833924AARS2,POLR1Cc.2598+1G>T (p.=)
n.577-4884C>A (p.=)
n.314-4884C>A
c.2307+1G>T (p.=)
n.2523+1G>T
c.1308+1G>T (p.=)
c.946-139831C>A (p.=)
ClinVar dbSNP ExAC gnomAD
6g.44302059C=CA1624922844AARS2,POLR1Cc.2598+1G= (p.=)
n.577-4884C= (p.=)
n.314-4884C=
c.2307+1G= (p.=)
n.2523+1G=
c.1308+1G= (p.=)
c.946-139831C= (p.=)
6g.44302059C>GCA364336376AARS2,POLR1Cc.2598+1G>C (p.=)
n.577-4884C>G (p.=)
n.314-4884C>G
c.2307+1G>C (p.=)
n.2523+1G>C
c.1308+1G>C (p.=)
c.946-139831C>G (p.=)
6g.44302059C>TCA364336378AARS2,POLR1Cc.2598+1G>A (p.=)
n.577-4884C>T (p.=)
n.314-4884C>T
c.2307+1G>A (p.=)
n.2523+1G>A
c.1308+1G>A (p.=)
c.946-139831C>T (p.=)
6g.44302060C>ACA364336380AARS2,POLR1Cc.2598G>T (p.Gln866His)
n.577-4883C>A (p.=)
n.314-4883C>A
c.2307G>T (p.Gln769His)
n.2523G>T
c.1308G>T (p.Gln436His)
c.946-139830C>A (p.=)
6g.44302060C>GCA364336382AARS2,POLR1Cc.2598G>C (p.Gln866His)
n.577-4883C>G (p.=)
n.314-4883C>G
c.2307G>C (p.Gln769His)
n.2523G>C
c.1308G>C (p.Gln436His)
c.946-139830C>G (p.=)
6g.44302060C>TCA450315868AARS2,POLR1Cc.2598G>A (p.Gln866=)
n.577-4883C>T (p.=)
n.314-4883C>T
c.2307G>A (p.Gln769=)
n.2523G>A
c.1308G>A (p.Gln436=)
c.946-139830C>T (p.=)
6g.44302061T>ACA364336387AARS2,POLR1Cc.2597A>T (p.Gln866Leu)
n.577-4882T>A (p.=)
n.314-4882T>A
c.2306A>T (p.Gln769Leu)
n.2522A>T
c.1307A>T (p.Gln436Leu)
c.946-139829T>A (p.=)
6g.44302061T>CCA364336386AARS2,POLR1Cc.2597A>G (p.Gln866Arg)
n.577-4882T>C (p.=)
n.314-4882T>C
c.2306A>G (p.Gln769Arg)
n.2522A>G
c.1307A>G (p.Gln436Arg)
c.946-139829T>C (p.=)
6g.44302061T>GCA364336384AARS2,POLR1Cc.2597A>C (p.Gln866Pro)
n.577-4882T>G (p.=)
n.314-4882T>G
c.2306A>C (p.Gln769Pro)
n.2522A>C
c.1307A>C (p.Gln436Pro)
c.946-139829T>G (p.=)
6g.44302062G>ACA3833925AARS2,POLR1Cc.2596C>T (p.Gln866Ter)
n.577-4881G>A (p.=)
n.314-4881G>A
c.2305C>T (p.Gln769Ter)
n.2521C>T
c.1306C>T (p.Gln436Ter)
c.946-139828G>A (p.=)
dbSNP ExAC gnomAD
6g.44302062G>CCA364336389AARS2,POLR1Cc.2596C>G (p.Gln866Glu)
n.577-4881G>C (p.=)
n.314-4881G>C
c.2305C>G (p.Gln769Glu)
n.2521C>G
c.1306C>G (p.Gln436Glu)
c.946-139828G>C (p.=)
6g.44302062G=CA1624922848AARS2,POLR1Cc.2596C= (p.Gln866=)
n.577-4881G= (p.=)
n.314-4881G=
c.2305C= (p.Gln769=)
n.2521C=
c.1306C= (p.Gln436=)
c.946-139828G= (p.=)
6g.44302062G>TCA364336391AARS2,POLR1Cc.2596C>A (p.Gln866Lys)
n.577-4881G>T (p.=)
n.314-4881G>T
c.2305C>A (p.Gln769Lys)
n.2521C>A
c.1306C>A (p.Gln436Lys)
c.946-139828G>T (p.=)
6g.44302063T>ACA450315872AARS2,POLR1Cc.2595A>T (p.Gly865=)
n.577-4880T>A (p.=)
n.314-4880T>A
c.2304A>T (p.Gly768=)
n.2520A>T
c.1305A>T (p.Gly435=)
c.946-139827T>A (p.=)
6g.44302063T>CCA450315874AARS2,POLR1Cc.2595A>G (p.Gly865=)
n.577-4880T>C (p.=)
n.314-4880T>C
c.2304A>G (p.Gly768=)
n.2520A>G
c.1305A>G (p.Gly435=)
c.946-139827T>C (p.=)
6g.44302063T>GCA450315873AARS2,POLR1Cc.2595A>C (p.Gly865=)
n.577-4880T>G (p.=)
n.314-4880T>G
c.2304A>C (p.Gly768=)
n.2520A>C
c.1305A>C (p.Gly435=)
c.946-139827T>G (p.=)
6g.44302063T=CA1624922850AARS2,POLR1Cc.2595A= (p.Gly865=)
n.577-4880T= (p.=)
n.314-4880T=
c.2304A= (p.Gly768=)
n.2520A=
c.1305A= (p.Gly435=)
c.946-139827T= (p.=)
6g.44302064C>ACA364336392AARS2,POLR1Cc.2594G>T (p.Gly865Val)
n.577-4879C>A (p.=)
n.314-4879C>A
c.2303G>T (p.Gly768Val)
n.2519G>T
c.1304G>T (p.Gly435Val)
c.946-139826C>A (p.=)
6g.44302064C=CA1624922851AARS2,POLR1Cc.2594G= (p.Gly865=)
n.577-4879C= (p.=)
n.314-4879C=
c.2303G= (p.Gly768=)
n.2519G=
c.1304G= (p.Gly435=)
c.946-139826C= (p.=)
6g.44302064C>GCA3833926AARS2,POLR1Cc.2594G>C (p.Gly865Ala)
n.577-4879C>G (p.=)
n.314-4879C>G
c.2303G>C (p.Gly768Ala)
n.2519G>C
c.1304G>C (p.Gly435Ala)
c.946-139826C>G (p.=)
dbSNP ExAC gnomAD
6g.44302064C>TCA364336395AARS2,POLR1Cc.2594G>A (p.Gly865Glu)
n.577-4879C>T (p.=)
n.314-4879C>T
c.2303G>A (p.Gly768Glu)
n.2519G>A
c.1304G>A (p.Gly435Glu)
c.946-139826C>T (p.=)
6g.44302065C>ACA364336396AARS2,POLR1Cc.2593G>T (p.Gly865Ter)
n.577-4878C>A (p.=)
n.314-4878C>A
c.2302G>T (p.Gly768Ter)
n.2518G>T
c.1303G>T (p.Gly435Ter)
c.946-139825C>A (p.=)
6g.44302065C=CA1624922852AARS2,POLR1Cc.2593G= (p.Gly865=)
n.577-4878C= (p.=)
n.314-4878C=
c.2302G= (p.Gly768=)
n.2518G=
c.1303G= (p.Gly435=)
c.946-139825C= (p.=)
6g.44302065C>GCA364336398AARS2,POLR1Cc.2593G>C (p.Gly865Arg)
n.577-4878C>G (p.=)
n.314-4878C>G
c.2302G>C (p.Gly768Arg)
n.2518G>C
c.1303G>C (p.Gly435Arg)
c.946-139825C>G (p.=)
6g.44302065C>TCA3833927AARS2,POLR1Cc.2593G>A (p.Gly865Arg)
n.577-4878C>T (p.=)
n.314-4878C>T
c.2302G>A (p.Gly768Arg)
n.2518G>A
c.1303G>A (p.Gly435Arg)
c.946-139825C>T (p.=)
dbSNP ExAC gnomAD
6g.44302066C>ACA364336400AARS2,POLR1Cc.2592G>T (p.Met864Ile)
n.577-4877C>A (p.=)
n.314-4877C>A
c.2301G>T (p.Met767Ile)
n.2517G>T
c.1302G>T (p.Met434Ile)
c.946-139824C>A (p.=)
6g.44302066C=CA1624922853AARS2,POLR1Cc.2592G= (p.Met864=)
n.577-4877C= (p.=)
n.314-4877C=
c.2301G= (p.Met767=)
n.2517G=
c.1302G= (p.Met434=)
c.946-139824C= (p.=)
6g.44302066C>GCA3833928AARS2,POLR1Cc.2592G>C (p.Met864Ile)
n.577-4877C>G (p.=)
n.314-4877C>G
c.2301G>C (p.Met767Ile)
n.2517G>C
c.1302G>C (p.Met434Ile)
c.946-139824C>G (p.=)
dbSNP ExAC gnomAD
6g.44302066C>TCA364336403AARS2,POLR1Cc.2592G>A (p.Met864Ile)
n.577-4877C>T (p.=)
n.314-4877C>T
c.2301G>A (p.Met767Ile)
n.2517G>A
c.1302G>A (p.Met434Ile)
c.946-139824C>T (p.=)
6g.44302067A>CCA364336405AARS2,POLR1Cc.2591T>G (p.Met864Arg)
n.577-4876A>C (p.=)
n.314-4876A>C
c.2300T>G (p.Met767Arg)
n.2516T>G
c.1301T>G (p.Met434Arg)
c.946-139823A>C (p.=)
6g.44302067A>GCA364336406AARS2,POLR1Cc.2591T>C (p.Met864Thr)
n.577-4876A>G (p.=)
n.314-4876A>G
c.2300T>C (p.Met767Thr)
n.2516T>C
c.1301T>C (p.Met434Thr)
c.946-139823A>G (p.=)
6g.44302067A>TCA364336408AARS2,POLR1Cc.2591T>A (p.Met864Lys)
n.577-4876A>T (p.=)
n.314-4876A>T
c.2300T>A (p.Met767Lys)
n.2516T>A
c.1301T>A (p.Met434Lys)
c.946-139823A>T (p.=)
6g.44302068T>ACA364336409AARS2,POLR1Cc.2590A>T (p.Met864Leu)
n.577-4875T>A (p.=)
n.314-4875T>A
c.2299A>T (p.Met767Leu)
n.2515A>T
c.1300A>T (p.Met434Leu)
c.946-139822T>A (p.=)
6g.44302068T>CCA364336411AARS2,POLR1Cc.2590A>G (p.Met864Val)
n.577-4875T>C (p.=)
n.314-4875T>C
c.2299A>G (p.Met767Val)
n.2515A>G
c.1300A>G (p.Met434Val)
c.946-139822T>C (p.=)
6g.44302068T>GCA364336412AARS2,POLR1Cc.2590A>C (p.Met864Leu)
n.577-4875T>G (p.=)
n.314-4875T>G
c.2299A>C (p.Met767Leu)
n.2515A>C
c.1300A>C (p.Met434Leu)
c.946-139822T>G (p.=)
6g.44302069T>ACA364336414AARS2,POLR1Cc.2589A>T (p.Gln863His)
n.577-4874T>A (p.=)
n.314-4874T>A
c.2298A>T (p.Gln766His)
n.2514A>T
c.1299A>T (p.Gln433His)
c.946-139821T>A (p.=)
6g.44302069T>CCA450315879AARS2,POLR1Cc.2589A>G (p.Gln863=)
n.577-4874T>C (p.=)
n.314-4874T>C
c.2298A>G (p.Gln766=)
n.2514A>G
c.1299A>G (p.Gln433=)
c.946-139821T>C (p.=)
gnomAD
6g.44302069T>GCA364336416AARS2,POLR1Cc.2589A>C (p.Gln863His)
n.577-4874T>G (p.=)
n.314-4874T>G
c.2298A>C (p.Gln766His)
n.2514A>C
c.1299A>C (p.Gln433His)
c.946-139821T>G (p.=)
COSMIC
6g.44302069T=CA1624922854AARS2,POLR1Cc.2589A= (p.Gln863=)
n.577-4874T= (p.=)
n.314-4874T=
c.2298A= (p.Gln766=)
n.2514A=
c.1299A= (p.Gln433=)
c.946-139821T= (p.=)
6g.44302070T>ACA364336420AARS2,POLR1Cc.2588A>T (p.Gln863Leu)
n.577-4873T>A (p.=)
n.314-4873T>A
c.2297A>T (p.Gln766Leu)
n.2513A>T
c.1298A>T (p.Gln433Leu)
c.946-139820T>A (p.=)
6g.44302070T>CCA364336418AARS2,POLR1Cc.2588A>G (p.Gln863Arg)
n.577-4873T>C (p.=)
n.314-4873T>C
c.2297A>G (p.Gln766Arg)
n.2513A>G
c.1298A>G (p.Gln433Arg)
c.946-139820T>C (p.=)
6g.44302070T>GCA364336417AARS2,POLR1Cc.2588A>C (p.Gln863Pro)
n.577-4873T>G (p.=)
n.314-4873T>G
c.2297A>C (p.Gln766Pro)
n.2513A>C
c.1298A>C (p.Gln433Pro)
c.946-139820T>G (p.=)
6g.44302071G>ACA364336422AARS2,POLR1Cc.2587C>T (p.Gln863Ter)
n.577-4872G>A (p.=)
n.314-4872G>A
c.2296C>T (p.Gln766Ter)
n.2512C>T
c.1297C>T (p.Gln433Ter)
c.946-139819G>A (p.=)
gnomAD
6g.44302071G>CCA364336425AARS2,POLR1Cc.2587C>G (p.Gln863Glu)
n.577-4872G>C (p.=)
n.314-4872G>C
c.2296C>G (p.Gln766Glu)
n.2512C>G
c.1297C>G (p.Gln433Glu)
c.946-139819G>C (p.=)
6g.44302071G=CA1624922855AARS2,POLR1Cc.2587C= (p.Gln863=)
n.577-4872G= (p.=)
n.314-4872G=
c.2296C= (p.Gln766=)
n.2512C=
c.1297C= (p.Gln433=)
c.946-139819G= (p.=)
6g.44302071G>TCA364336424AARS2,POLR1Cc.2587C>A (p.Gln863Lys)
n.577-4872G>T (p.=)
n.314-4872G>T
c.2296C>A (p.Gln766Lys)
n.2512C>A
c.1297C>A (p.Gln433Lys)
c.946-139819G>T (p.=)
6g.44302072C>ACA450315882AARS2,POLR1Cc.2586G>T (p.Leu862=)
n.577-4871C>A (p.=)
n.314-4871C>A
c.2295G>T (p.Leu765=)
n.2511G>T
c.1296G>T (p.Leu432=)
c.946-139818C>A (p.=)
6g.44302072C=CA1624922856AARS2,POLR1Cc.2586G= (p.Leu862=)
n.577-4871C= (p.=)
n.314-4871C=
c.2295G= (p.Leu765=)
n.2511G=
c.1296G= (p.Leu432=)
c.946-139818C= (p.=)
6g.44302072C>GCA3833929AARS2,POLR1Cc.2586G>C (p.Leu862=)
n.577-4871C>G (p.=)
n.314-4871C>G
c.2295G>C (p.Leu765=)
n.2511G>C
c.1296G>C (p.Leu432=)
c.946-139818C>G (p.=)
dbSNP ExAC gnomAD

Number of alleles fetched