Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44310998T>ACA364340754AARS2,POLR1Cc.745A>T (p.Asn249Tyr)
n.855+3356T>A
n.780A>T
c.-274A>T (p.=)
c.946-130892T>A (p.=)
6g.44310998T>CCA364340755AARS2,POLR1Cc.745A>G (p.Asn249Asp)
n.855+3356T>C
n.780A>G
c.-274A>G (p.=)
c.946-130892T>C (p.=)
6g.44310998T>GCA364340756AARS2,POLR1Cc.745A>C (p.Asn249His)
n.855+3356T>G
n.780A>C
c.-274A>C (p.=)
c.946-130892T>G (p.=)
6g.44310999G>ACA450391294AARS2,POLR1Cc.744C>T (p.His248=)
n.855+3357G>A
n.779C>T
c.-275C>T (p.=)
c.946-130891G>A (p.=)
6g.44310999G>CCA364340757AARS2,POLR1Cc.744C>G (p.His248Gln)
n.855+3357G>C
n.779C>G
c.-275C>G (p.=)
c.946-130891G>C (p.=)
6g.44310999G>TCA364340758AARS2,POLR1Cc.744C>A (p.His248Gln)
n.855+3357G>T
n.779C>A
c.-275C>A (p.=)
c.946-130891G>T (p.=)
6g.44311000T>ACA364340760AARS2,POLR1Cc.743A>T (p.His248Leu)
n.855+3358T>A
n.778A>T
c.-276A>T (p.=)
c.946-130890T>A (p.=)
6g.44311000T>CCA138393993AARS2,POLR1Cc.743A>G (p.His248Arg)
n.855+3358T>C
n.778A>G
c.-276A>G (p.=)
c.946-130890T>C (p.=)
dbSNP
6g.44311000T>GCA364340759AARS2,POLR1Cc.743A>C (p.His248Pro)
n.855+3358T>G
n.778A>C
c.-276A>C (p.=)
c.946-130890T>G (p.=)
6g.44311000T=CA1624928607AARS2,POLR1Cc.743A= (p.His248=)
n.855+3358T=
n.778A=
c.-276A= (p.=)
c.946-130890T= (p.=)
6g.44311001G>ACA364340763AARS2,POLR1Cc.742C>T (p.His248Tyr)
n.855+3359G>A
n.777C>T
c.-277C>T (p.=)
c.946-130889G>A (p.=)
6g.44311001G>CCA364340761AARS2,POLR1Cc.742C>G (p.His248Asp)
n.855+3359G>C
n.777C>G
c.-277C>G (p.=)
c.946-130889G>C (p.=)
6g.44311001G>TCA364340762AARS2,POLR1Cc.742C>A (p.His248Asn)
n.855+3359G>T
n.777C>A
c.-277C>A (p.=)
c.946-130889G>T (p.=)
6g.44311002T>ACA364340764AARS2,POLR1Cc.741A>T (p.Gln247His)
n.855+3360T>A
n.776A>T
c.-278A>T (p.=)
c.946-130888T>A (p.=)
6g.44311002T>CCA450391296AARS2,POLR1Cc.741A>G (p.Gln247=)
n.855+3360T>C
n.776A>G
c.-278A>G (p.=)
c.946-130888T>C (p.=)
6g.44311002T>GCA364340765AARS2,POLR1Cc.741A>C (p.Gln247His)
n.855+3360T>G
n.776A>C
c.-278A>C (p.=)
c.946-130888T>G (p.=)
6g.44311003T>ACA364340766AARS2,POLR1Cc.740A>T (p.Gln247Leu)
n.855+3361T>A
n.775A>T
c.-279A>T (p.=)
c.946-130887T>A (p.=)
6g.44311003T>CCA364340767AARS2,POLR1Cc.740A>G (p.Gln247Arg)
n.855+3361T>C
n.775A>G
c.-279A>G (p.=)
c.946-130887T>C (p.=)
6g.44311003T>GCA364340768AARS2,POLR1Cc.740A>C (p.Gln247Pro)
n.855+3361T>G
n.775A>C
c.-279A>C (p.=)
c.946-130887T>G (p.=)
6g.44311004G>ACA364340769AARS2,POLR1Cc.739C>T (p.Gln247Ter)
n.855+3362G>A
n.774C>T
c.-280C>T (p.=)
c.946-130886G>A (p.=)
6g.44311004G>CCA364340770AARS2,POLR1Cc.739C>G (p.Gln247Glu)
n.855+3362G>C
n.774C>G
c.-280C>G (p.=)
c.946-130886G>C (p.=)
6g.44311004G=CA1624928614AARS2,POLR1Cc.739C= (p.Gln247=)
n.855+3362G=
n.774C=
c.-280C= (p.=)
c.946-130886G= (p.=)
6g.44311004G>TCA364340771AARS2,POLR1Cc.739C>A (p.Gln247Lys)
n.855+3362G>T
n.774C>A
c.-280C>A (p.=)
c.946-130886G>T (p.=)
6g.44311005C>ACA364340772AARS2,POLR1Cc.738G>T (p.Met246Ile)
n.855+3363C>A
n.773G>T
c.-281G>T (p.=)
c.946-130885C>A (p.=)
6g.44311005C=CA1624928615AARS2,POLR1Cc.738G= (p.Met246=)
n.855+3363C=
n.773G=
c.-281G= (p.=)
c.946-130885C= (p.=)
6g.44311005C>GCA364340773AARS2,POLR1Cc.738G>C (p.Met246Ile)
n.855+3363C>G
n.773G>C
c.-281G>C (p.=)
c.946-130885C>G (p.=)
6g.44311005C>TCA364340774AARS2,POLR1Cc.738G>A (p.Met246Ile)
n.855+3363C>T
n.773G>A
c.-281G>A (p.=)
c.946-130885C>T (p.=)
6g.44311006A=CA1624928619AARS2,POLR1Cc.737T= (p.Met246=)
n.855+3364A=
n.772T=
c.-282T= (p.=)
c.946-130884A= (p.=)
6g.44311006A>CCA364340775AARS2,POLR1Cc.737T>G (p.Met246Arg)
n.855+3364A>C
n.772T>G
c.-282T>G (p.=)
c.946-130884A>C (p.=)
6g.44311006A>GCA364340777AARS2,POLR1Cc.737T>C (p.Met246Thr)
n.855+3364A>G
n.772T>C
c.-282T>C (p.=)
c.946-130884A>G (p.=)
6g.44311006A>TCA364340776AARS2,POLR1Cc.737T>A (p.Met246Lys)
n.855+3364A>T
n.772T>A
c.-282T>A (p.=)
c.946-130884A>T (p.=)
6g.44311007T>ACA364340778AARS2,POLR1Cc.736A>T (p.Met246Leu)
n.855+3365T>A
n.771A>T
c.-283A>T (p.=)
c.946-130883T>A (p.=)
6g.44311007T>CCA364340779AARS2,POLR1Cc.736A>G (p.Met246Val)
n.855+3365T>C
n.771A>G
c.-283A>G (p.=)
c.946-130883T>C (p.=)
gnomAD
6g.44311007T>GCA364340780AARS2,POLR1Cc.736A>C (p.Met246Leu)
n.855+3365T>G
n.771A>C
c.-283A>C (p.=)
c.946-130883T>G (p.=)
6g.44311007T=CA1624928620AARS2,POLR1Cc.736A= (p.Met246=)
n.855+3365T=
n.771A=
c.-283A= (p.=)
c.946-130883T= (p.=)
6g.44311008G>ACA450391300AARS2,POLR1Cc.735C>T (p.Phe245=)
n.855+3366G>A
n.770C>T
c.-284C>T (p.=)
c.946-130882G>A (p.=)
6g.44311008G>CCA364340781AARS2,POLR1Cc.735C>G (p.Phe245Leu)
n.855+3366G>C
n.770C>G
c.-284C>G (p.=)
c.946-130882G>C (p.=)
6g.44311008G>TCA364340782AARS2,POLR1Cc.735C>A (p.Phe245Leu)
n.855+3366G>T
n.770C>A
c.-284C>A (p.=)
c.946-130882G>T (p.=)
6g.44311009A>CCA364340783AARS2,POLR1Cc.734T>G (p.Phe245Cys)
n.855+3367A>C
n.769T>G
c.-285T>G (p.=)
c.946-130881A>C (p.=)
6g.44311009A>GCA364340784AARS2,POLR1Cc.734T>C (p.Phe245Ser)
n.855+3367A>G
n.769T>C
c.-285T>C (p.=)
c.946-130881A>G (p.=)
6g.44311009A>TCA364340785AARS2,POLR1Cc.734T>A (p.Phe245Tyr)
n.855+3367A>T
n.769T>A
c.-285T>A (p.=)
c.946-130881A>T (p.=)
6g.44311010A>CCA364340786AARS2,POLR1Cc.733T>G (p.Phe245Val)
n.855+3368A>C
n.768T>G
c.-286T>G (p.=)
c.946-130880A>C (p.=)
6g.44311010A>GCA364340787AARS2,POLR1Cc.733T>C (p.Phe245Leu)
n.855+3368A>G
n.768T>C
c.-286T>C (p.=)
c.946-130880A>G (p.=)
6g.44311010A>TCA364340788AARS2,POLR1Cc.733T>A (p.Phe245Ile)
n.855+3368A>T
n.768T>A
c.-286T>A (p.=)
c.946-130880A>T (p.=)
6g.44311011G>ACA450391304AARS2,POLR1Cc.732C>T (p.Val244=)
n.855+3369G>A
n.767C>T
c.-287C>T (p.=)
c.946-130879G>A (p.=)
6g.44311011G>CCA450391305AARS2,POLR1Cc.732C>G (p.Val244=)
n.855+3369G>C
n.767C>G
c.-287C>G (p.=)
c.946-130879G>C (p.=)
6g.44311011G>TCA450391306AARS2,POLR1Cc.732C>A (p.Val244=)
n.855+3369G>T
n.767C>A
c.-287C>A (p.=)
c.946-130879G>T (p.=)
6g.44311012A=CA1624928624AARS2,POLR1Cc.731T= (p.Val244=)
n.855+3370A=
n.766T=
c.-288T= (p.=)
c.946-130878A= (p.=)
6g.44311012A>CCA364340790AARS2,POLR1Cc.731T>G (p.Val244Gly)
n.855+3370A>C
n.766T>G
c.-288T>G (p.=)
c.946-130878A>C (p.=)
6g.44311012A>GCA364340791AARS2,POLR1Cc.731T>C (p.Val244Ala)
n.855+3370A>G
n.766T>C
c.-288T>C (p.=)
c.946-130878A>G (p.=)

Number of alleles fetched