Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.44302775_44302821delCA2678953242AARS2,POLR1C,TMEM151Bc.2350_2364+32del
c.577-4168_577-4122del (n.577-4168_577-4122del)
c.314-4168_314-4122del
c.2059_2073+32del
n.2275_2289+32del
c.1060_1074+32del
c.946-139115_946-139069del (n.946-139115_946-139069del)
 gnomAD v4
6g.44302821G>ACA364337105AARS2,POLR1C,TMEM151Bc.2345C>T (p.Thr782Ile)
c.577-4122G>A (n.577-4122G>A)
c.314-4122G>A
c.2054C>T (p.Thr685Ile)
n.2270C>T
c.1055C>T (p.Thr352Ile)
c.946-139069G>A (n.946-139069G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.44302821G>CCA364337106AARS2,POLR1C,TMEM151Bc.2345C>G (p.Thr782Ser)
c.577-4122G>C (n.577-4122G>C)
c.314-4122G>C
c.2054C>G (p.Thr685Ser)
n.2270C>G
c.1055C>G (p.Thr352Ser)
c.946-139069G>C (n.946-139069G>C)
6g.44302821G=CA1624923620AARS2,POLR1C,TMEM151Bc.2345C= (p.Thr782=)
c.577-4122G= (n.577-4122G=)
c.314-4122G=
c.2054C= (p.Thr685=)
n.2270C=
c.1055C= (p.Thr352=)
c.946-139069G= (n.946-139069G=)
6g.44302821G>TCA364337107AARS2,POLR1C,TMEM151Bc.2345C>A (p.Thr782Asn)
c.577-4122G>T (n.577-4122G>T)
c.314-4122G>T
c.2054C>A (p.Thr685Asn)
n.2270C>A
c.1055C>A (p.Thr352Asn)
c.946-139069G>T (n.946-139069G>T)
6g.44302822T>ACA364337108AARS2,POLR1C,TMEM151Bc.2344A>T (p.Thr782Ser)
c.577-4121T>A (n.577-4121T>A)
c.314-4121T>A
c.2053A>T (p.Thr685Ser)
n.2269A>T
c.1054A>T (p.Thr352Ser)
c.946-139068T>A (n.946-139068T>A)
6g.44302822T>CCA364337109AARS2,POLR1C,TMEM151Bc.2344A>G (p.Thr782Ala)
c.577-4121T>C (n.577-4121T>C)
c.314-4121T>C
c.2053A>G (p.Thr685Ala)
n.2269A>G
c.1054A>G (p.Thr352Ala)
c.946-139068T>C (n.946-139068T>C)
 dbSNP
6g.44302822T>GCA364337110AARS2,POLR1C,TMEM151Bc.2344A>C (p.Thr782Pro)
c.577-4121T>G (n.577-4121T>G)
c.314-4121T>G
c.2053A>C (p.Thr685Pro)
n.2269A>C
c.1054A>C (p.Thr352Pro)
c.946-139068T>G (n.946-139068T>G)
6g.44302822T=CA1624923622AARS2,POLR1C,TMEM151Bc.2344A= (p.Thr782=)
c.577-4121T= (n.577-4121T=)
c.314-4121T=
c.2053A= (p.Thr685=)
n.2269A=
c.1054A= (p.Thr352=)
c.946-139068T= (n.946-139068T=)
6g.44302823G>ACA450390771AARS2,POLR1C,TMEM151Bc.2343C>T (p.Val781=)
c.577-4120G>A (n.577-4120G>A)
c.314-4120G>A
c.2052C>T (p.Val684=)
n.2268C>T
c.1053C>T (p.Val351=)
c.946-139067G>A (n.946-139067G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44302823G>CCA450390772AARS2,POLR1C,TMEM151Bc.2343C>G (p.Val781=)
c.577-4120G>C (n.577-4120G>C)
c.314-4120G>C
c.2052C>G (p.Val684=)
n.2268C>G
c.1053C>G (p.Val351=)
c.946-139067G>C (n.946-139067G>C)
6g.44302823G=CA1624923624AARS2,POLR1C,TMEM151Bc.2343C= (p.Val781=)
c.577-4120G= (n.577-4120G=)
c.314-4120G=
c.2052C= (p.Val684=)
n.2268C=
c.1053C= (p.Val351=)
c.946-139067G= (n.946-139067G=)
6g.44302823G>TCA450390773AARS2,POLR1C,TMEM151Bc.2343C>A (p.Val781=)
c.577-4120G>T (n.577-4120G>T)
c.314-4120G>T
c.2052C>A (p.Val684=)
n.2268C>A
c.1053C>A (p.Val351=)
c.946-139067G>T (n.946-139067G>T)
6g.44302824A>CCA364337111AARS2,POLR1C,TMEM151Bc.2342T>G (p.Val781Gly)
c.577-4119A>C (n.577-4119A>C)
c.314-4119A>C
c.2051T>G (p.Val684Gly)
n.2267T>G
c.1052T>G (p.Val351Gly)
c.946-139066A>C (n.946-139066A>C)
6g.44302824A>GCA364337112AARS2,POLR1C,TMEM151Bc.2342T>C (p.Val781Ala)
c.577-4119A>G (n.577-4119A>G)
c.314-4119A>G
c.2051T>C (p.Val684Ala)
n.2267T>C
c.1052T>C (p.Val351Ala)
c.946-139066A>G (n.946-139066A>G)
6g.44302824A>TCA364337113AARS2,POLR1C,TMEM151Bc.2342T>A (p.Val781Asp)
c.577-4119A>T (n.577-4119A>T)
c.314-4119A>T
c.2051T>A (p.Val684Asp)
n.2267T>A
c.1052T>A (p.Val351Asp)
c.946-139066A>T (n.946-139066A>T)
6g.44302825C>ACA364337114AARS2,POLR1C,TMEM151Bc.2341G>T (p.Val781Phe)
c.577-4118C>A (n.577-4118C>A)
c.314-4118C>A
c.2050G>T (p.Val684Phe)
n.2266G>T
c.1051G>T (p.Val351Phe)
c.946-139065C>A (n.946-139065C>A)
 COSMIC
6g.44302825C=CA1624923628AARS2,POLR1C,TMEM151Bc.2341G= (p.Val781=)
c.577-4118C= (n.577-4118C=)
c.314-4118C=
c.2050G= (p.Val684=)
n.2266G=
c.1051G= (p.Val351=)
c.946-139065C= (n.946-139065C=)
6g.44302825C>GCA364337115AARS2,POLR1C,TMEM151Bc.2341G>C (p.Val781Leu)
c.577-4118C>G (n.577-4118C>G)
c.314-4118C>G
c.2050G>C (p.Val684Leu)
n.2266G>C
c.1051G>C (p.Val351Leu)
c.946-139065C>G (n.946-139065C>G)
6g.44302825C>TCA138385371AARS2,POLR1C,TMEM151Bc.2341G>A (p.Val781Ile)
c.577-4118C>T (n.577-4118C>T)
c.314-4118C>T
c.2050G>A (p.Val684Ile)
n.2266G>A
c.1051G>A (p.Val351Ile)
c.946-139065C>T (n.946-139065C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.44302826G>ACA3834017AARS2,POLR1C,TMEM151Bc.2340C>T (p.Ala780=)
c.577-4117G>A (n.577-4117G>A)
c.314-4117G>A
c.2049C>T (p.Ala683=)
n.2265C>T
c.1050C>T (p.Ala350=)
c.946-139064G>A (n.946-139064G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302826G>CCA450390774AARS2,POLR1C,TMEM151Bc.2340C>G (p.Ala780=)
c.577-4117G>C (n.577-4117G>C)
c.314-4117G>C
c.2049C>G (p.Ala683=)
n.2265C>G
c.1050C>G (p.Ala350=)
c.946-139064G>C (n.946-139064G>C)
6g.44302826G=CA1624923631AARS2,POLR1C,TMEM151Bc.2340C= (p.Ala780=)
c.577-4117G= (n.577-4117G=)
c.314-4117G=
c.2049C= (p.Ala683=)
n.2265C=
c.1050C= (p.Ala350=)
c.946-139064G= (n.946-139064G=)
6g.44302826G>TCA450390775AARS2,POLR1C,TMEM151Bc.2340C>A (p.Ala780=)
c.577-4117G>T (n.577-4117G>T)
c.314-4117G>T
c.2049C>A (p.Ala683=)
n.2265C>A
c.1050C>A (p.Ala350=)
c.946-139064G>T (n.946-139064G>T)
6g.44302827delCA2678953251AARS2,POLR1C,TMEM151Bc.2340del (p.Val781SerfsTer12)
c.577-4116del (n.577-4116del)
c.314-4116del
c.2049del (p.Val684SerfsTer12)
n.2265del
c.1050del (p.Val351SerfsTer12)
c.946-139063del (n.946-139063del)
 gnomAD v4
6g.44302827G>ACA364337118AARS2,POLR1C,TMEM151Bc.2339C>T (p.Ala780Val)
c.577-4116G>A (n.577-4116G>A)
c.314-4116G>A
c.2048C>T (p.Ala683Val)
n.2264C>T
c.1049C>T (p.Ala350Val)
c.946-139063G>A (n.946-139063G>A)
 COSMIC
6g.44302827G>CCA364337116AARS2,POLR1C,TMEM151Bc.2339C>G (p.Ala780Gly)
c.577-4116G>C (n.577-4116G>C)
c.314-4116G>C
c.2048C>G (p.Ala683Gly)
n.2264C>G
c.1049C>G (p.Ala350Gly)
c.946-139063G>C (n.946-139063G>C)
6g.44302827G>TCA364337117AARS2,POLR1C,TMEM151Bc.2339C>A (p.Ala780Asp)
c.577-4116G>T (n.577-4116G>T)
c.314-4116G>T
c.2048C>A (p.Ala683Asp)
n.2264C>A
c.1049C>A (p.Ala350Asp)
c.946-139063G>T (n.946-139063G>T)
6g.44302828C>ACA364337119AARS2,POLR1C,TMEM151Bc.2338G>T (p.Ala780Ser)
c.577-4115C>A (n.577-4115C>A)
c.314-4115C>A
c.2047G>T (p.Ala683Ser)
n.2263G>T
c.1048G>T (p.Ala350Ser)
c.946-139062C>A (n.946-139062C>A)
6g.44302828C>GCA364337120AARS2,POLR1C,TMEM151Bc.2338G>C (p.Ala780Pro)
c.577-4115C>G (n.577-4115C>G)
c.314-4115C>G
c.2047G>C (p.Ala683Pro)
n.2263G>C
c.1048G>C (p.Ala350Pro)
c.946-139062C>G (n.946-139062C>G)
6g.44302828C>TCA364337121AARS2,POLR1C,TMEM151Bc.2338G>A (p.Ala780Thr)
c.577-4115C>T (n.577-4115C>T)
c.314-4115C>T
c.2047G>A (p.Ala683Thr)
n.2263G>A
c.1048G>A (p.Ala350Thr)
c.946-139062C>T (n.946-139062C>T)
6g.44302829C>ACA450390776AARS2,POLR1C,TMEM151Bc.2337G>T (p.Leu779=)
c.577-4114C>A (n.577-4114C>A)
c.314-4114C>A
c.2046G>T (p.Leu682=)
n.2262G>T
c.1047G>T (p.Leu349=)
c.946-139061C>A (n.946-139061C>A)
6g.44302829C=CA1624923634AARS2,POLR1C,TMEM151Bc.2337G= (p.Leu779=)
c.577-4114C= (n.577-4114C=)
c.314-4114C=
c.2046G= (p.Leu682=)
n.2262G=
c.1047G= (p.Leu349=)
c.946-139061C= (n.946-139061C=)
6g.44302829C>GCA450390777AARS2,POLR1C,TMEM151Bc.2337G>C (p.Leu779=)
c.577-4114C>G (n.577-4114C>G)
c.314-4114C>G
c.2046G>C (p.Leu682=)
n.2262G>C
c.1047G>C (p.Leu349=)
c.946-139061C>G (n.946-139061C>G)
6g.44302829C>TCA450390778AARS2,POLR1C,TMEM151Bc.2337G>A (p.Leu779=)
c.577-4114C>T (n.577-4114C>T)
c.314-4114C>T
c.2046G>A (p.Leu682=)
n.2262G>A
c.1047G>A (p.Leu349=)
c.946-139061C>T (n.946-139061C>T)
 dbSNP
6g.44302830A>CCA364337122AARS2,POLR1C,TMEM151Bc.2336T>G (p.Leu779Arg)
c.577-4113A>C (n.577-4113A>C)
c.314-4113A>C
c.2045T>G (p.Leu682Arg)
n.2261T>G
c.1046T>G (p.Leu349Arg)
c.946-139060A>C (n.946-139060A>C)
6g.44302830A>GCA364337123AARS2,POLR1C,TMEM151Bc.2336T>C (p.Leu779Pro)
c.577-4113A>G (n.577-4113A>G)
c.314-4113A>G
c.2045T>C (p.Leu682Pro)
n.2261T>C
c.1046T>C (p.Leu349Pro)
c.946-139060A>G (n.946-139060A>G)
6g.44302830A>TCA364337124AARS2,POLR1C,TMEM151Bc.2336T>A (p.Leu779Gln)
c.577-4113A>T (n.577-4113A>T)
c.314-4113A>T
c.2045T>A (p.Leu682Gln)
n.2261T>A
c.1046T>A (p.Leu349Gln)
c.946-139060A>T (n.946-139060A>T)
6g.44302831G>ACA450390779AARS2,POLR1C,TMEM151Bc.2335C>T (p.Leu779=)
c.577-4112G>A (n.577-4112G>A)
c.314-4112G>A
c.2044C>T (p.Leu682=)
n.2260C>T
c.1045C>T (p.Leu349=)
c.946-139059G>A (n.946-139059G>A)
6g.44302831G>CCA364337125AARS2,POLR1C,TMEM151Bc.2335C>G (p.Leu779Val)
c.577-4112G>C (n.577-4112G>C)
c.314-4112G>C
c.2044C>G (p.Leu682Val)
n.2260C>G
c.1045C>G (p.Leu349Val)
c.946-139059G>C (n.946-139059G>C)
6g.44302831G>TCA364337126AARS2,POLR1C,TMEM151Bc.2335C>A (p.Leu779Met)
c.577-4112G>T (n.577-4112G>T)
c.314-4112G>T
c.2044C>A (p.Leu682Met)
n.2260C>A
c.1045C>A (p.Leu349Met)
c.946-139059G>T (n.946-139059G>T)
6g.44302832C>ACA450390780AARS2,POLR1C,TMEM151Bc.2334G>T (p.Leu778=)
c.577-4111C>A (n.577-4111C>A)
c.314-4111C>A
c.2043G>T (p.Leu681=)
n.2259G>T
c.1044G>T (p.Leu348=)
c.946-139058C>A (n.946-139058C>A)
6g.44302832C=CA1624923638AARS2,POLR1C,TMEM151Bc.2334G= (p.Leu778=)
c.577-4111C= (n.577-4111C=)
c.314-4111C=
c.2043G= (p.Leu681=)
n.2259G=
c.1044G= (p.Leu348=)
c.946-139058C= (n.946-139058C=)
6g.44302832C>GCA450390781AARS2,POLR1C,TMEM151Bc.2334G>C (p.Leu778=)
c.577-4111C>G (n.577-4111C>G)
c.314-4111C>G
c.2043G>C (p.Leu681=)
n.2259G>C
c.1044G>C (p.Leu348=)
c.946-139058C>G (n.946-139058C>G)
6g.44302832C>TCA450390782AARS2,POLR1C,TMEM151Bc.2334G>A (p.Leu778=)
c.577-4111C>T (n.577-4111C>T)
c.314-4111C>T
c.2043G>A (p.Leu681=)
n.2259G>A
c.1044G>A (p.Leu348=)
c.946-139058C>T (n.946-139058C>T)
 dbSNP gnomAD v2
6g.44302833A>CCA364337127AARS2,POLR1C,TMEM151Bc.2333T>G (p.Leu778Arg)
c.577-4110A>C (n.577-4110A>C)
c.314-4110A>C
c.2042T>G (p.Leu681Arg)
n.2258T>G
c.1043T>G (p.Leu348Arg)
c.946-139057A>C (n.946-139057A>C)
6g.44302833A>GCA364337128AARS2,POLR1C,TMEM151Bc.2333T>C (p.Leu778Pro)
c.577-4110A>G (n.577-4110A>G)
c.314-4110A>G
c.2042T>C (p.Leu681Pro)
n.2258T>C
c.1043T>C (p.Leu348Pro)
c.946-139057A>G (n.946-139057A>G)
 gnomAD v4
6g.44302833A>TCA364337129AARS2,POLR1C,TMEM151Bc.2333T>A (p.Leu778Gln)
c.577-4110A>T (n.577-4110A>T)
c.314-4110A>T
c.2042T>A (p.Leu681Gln)
n.2258T>A
c.1043T>A (p.Leu348Gln)
c.946-139057A>T (n.946-139057A>T)
6g.44302834G>ACA450390783AARS2,POLR1C,TMEM151Bc.2332C>T (p.Leu778=)
c.577-4109G>A (n.577-4109G>A)
c.314-4109G>A
c.2041C>T (p.Leu681=)
n.2257C>T
c.1042C>T (p.Leu348=)
c.946-139056G>A (n.946-139056G>A)
6g.44302834G>CCA364337130AARS2,POLR1C,TMEM151Bc.2332C>G (p.Leu778Val)
c.577-4109G>C (n.577-4109G>C)
c.314-4109G>C
c.2041C>G (p.Leu681Val)
n.2257C>G
c.1042C>G (p.Leu348Val)
c.946-139056G>C (n.946-139056G>C)
6g.44302834G>TCA364337131AARS2,POLR1C,TMEM151Bc.2332C>A (p.Leu778Met)
c.577-4109G>T (n.577-4109G>T)
c.314-4109G>T
c.2041C>A (p.Leu681Met)
n.2257C>A
c.1042C>A (p.Leu348Met)
c.946-139056G>T (n.946-139056G>T)
6g.44302835G>ACA450390786AARS2,POLR1C,TMEM151Bc.2331C>T (p.Arg777=)
c.577-4108G>A (n.577-4108G>A)
c.314-4108G>A
c.2040C>T (p.Arg680=)
n.2256C>T
c.1041C>T (p.Arg347=)
c.946-139055G>A (n.946-139055G>A)
6g.44302835G>CCA450390785AARS2,POLR1C,TMEM151Bc.2331C>G (p.Arg777=)
c.577-4108G>C (n.577-4108G>C)
c.314-4108G>C
c.2040C>G (p.Arg680=)
n.2256C>G
c.1041C>G (p.Arg347=)
c.946-139055G>C (n.946-139055G>C)
6g.44302835G>TCA450390784AARS2,POLR1C,TMEM151Bc.2331C>A (p.Arg777=)
c.577-4108G>T (n.577-4108G>T)
c.314-4108G>T
c.2040C>A (p.Arg680=)
n.2256C>A
c.1041C>A (p.Arg347=)
c.946-139055G>T (n.946-139055G>T)
6g.44302835_44302846delCA2678953252AARS2,POLR1C,TMEM151Bc.2320_2331del (p.Gly774_Arg777del)
c.577-4108_577-4097del (n.577-4108_577-4097del)
c.314-4108_314-4097del
c.2029_2040del (p.Gly677_Arg680del)
n.2245_2256del
c.1030_1041del (p.Gly344_Arg347del)
c.946-139055_946-139044del (n.946-139055_946-139044del)
 gnomAD v4
6g.44302836C>ACA364337132AARS2,POLR1C,TMEM151Bc.2330G>T (p.Arg777Leu)
c.577-4107C>A (n.577-4107C>A)
c.314-4107C>A
c.2039G>T (p.Arg680Leu)
n.2255G>T
c.1040G>T (p.Arg347Leu)
c.946-139054C>A (n.946-139054C>A)
 gnomAD v4
6g.44302836C=CA1624923642AARS2,POLR1C,TMEM151Bc.2330G= (p.Arg777=)
c.577-4107C= (n.577-4107C=)
c.314-4107C=
c.2039G= (p.Arg680=)
n.2255G=
c.1040G= (p.Arg347=)
c.946-139054C= (n.946-139054C=)
6g.44302836C>GCA3834020AARS2,POLR1C,TMEM151Bc.2330G>C (p.Arg777Pro)
c.577-4107C>G (n.577-4107C>G)
c.314-4107C>G
c.2039G>C (p.Arg680Pro)
n.2255G>C
c.1040G>C (p.Arg347Pro)
c.946-139054C>G (n.946-139054C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302836C>TCA3834019AARS2,POLR1C,TMEM151Bc.2330G>A (p.Arg777His)
c.577-4107C>T (n.577-4107C>T)
c.314-4107C>T
c.2039G>A (p.Arg680His)
n.2255G>A
c.1040G>A (p.Arg347His)
c.946-139054C>T (n.946-139054C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.44302836_44302837insACCA2678953253AARS2,POLR1C,TMEM151Bc.2330_2331insTG (p.Leu778AlafsTer16)
c.577-4107_577-4106insAC (n.577-4107_577-4106insAC)
c.314-4107_314-4106insAC
c.2039_2040insTG (p.Leu681AlafsTer16)
n.2255_2256insTG
c.1040_1041insTG (p.Leu348AlafsTer16)
c.946-139054_946-139053insAC (n.946-139054_946-139053insAC)
 gnomAD v4
6g.44302836_44302837delinsCGCA1624923646AARS2,POLR1C,TMEM151Bc.2329_2330delinsCG (p.Arg777=)
c.577-4107_577-4106delinsCG (n.577-4107_577-4106delinsCG)
c.314-4107_314-4106delinsCG
c.2038_2039delinsCG (p.Arg680=)
n.2254_2255delinsCG
c.1039_1040delinsCG (p.Arg347=)
c.946-139054_946-139053delinsCG (n.946-139054_946-139053delinsCG)
6g.44302837G>ACA3834021AARS2,POLR1C,TMEM151Bc.2329C>T (p.Arg777Cys)
c.577-4106G>A (n.577-4106G>A)
c.314-4106G>A
c.2038C>T (p.Arg680Cys)
n.2254C>T
c.1039C>T (p.Arg347Cys)
c.946-139053G>A (n.946-139053G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302837G>CCA364337133AARS2,POLR1C,TMEM151Bc.2329C>G (p.Arg777Gly)
c.577-4106G>C (n.577-4106G>C)
c.314-4106G>C
c.2038C>G (p.Arg680Gly)
n.2254C>G
c.1039C>G (p.Arg347Gly)
c.946-139053G>C (n.946-139053G>C)
6g.44302837G=CA1624923649AARS2,POLR1C,TMEM151Bc.2329C= (p.Arg777=)
c.577-4106G= (n.577-4106G=)
c.314-4106G=
c.2038C= (p.Arg680=)
n.2254C=
c.1039C= (p.Arg347=)
c.946-139053G= (n.946-139053G=)
6g.44302837G>TCA364337134AARS2,POLR1C,TMEM151Bc.2329C>A (p.Arg777Ser)
c.577-4106G>T (n.577-4106G>T)
c.314-4106G>T
c.2038C>A (p.Arg680Ser)
n.2254C>A
c.1039C>A (p.Arg347Ser)
c.946-139053G>T (n.946-139053G>T)
6g.44302839delCA3834018AARS2,POLR1C,TMEM151Bc.2329del (p.Arg777AlafsTer16)
c.577-4104del (n.577-4104del)
c.314-4104del
c.2038del (p.Arg680AlafsTer16)
n.2254del
c.1039del (p.Arg347AlafsTer16)
c.946-139051del (n.946-139051del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302838G>ACA450390787AARS2,POLR1C,TMEM151Bc.2328C>T (p.Thr776=)
c.577-4105G>A (n.577-4105G>A)
c.314-4105G>A
c.2037C>T (p.Thr679=)
n.2253C>T
c.1038C>T (p.Thr346=)
c.946-139052G>A (n.946-139052G>A)
6g.44302838G>CCA450390788AARS2,POLR1C,TMEM151Bc.2328C>G (p.Thr776=)
c.577-4105G>C (n.577-4105G>C)
c.314-4105G>C
c.2037C>G (p.Thr679=)
n.2253C>G
c.1038C>G (p.Thr346=)
c.946-139052G>C (n.946-139052G>C)
6g.44302838G=CA1624923653AARS2,POLR1C,TMEM151Bc.2328C= (p.Thr776=)
c.577-4105G= (n.577-4105G=)
c.314-4105G=
c.2037C= (p.Thr679=)
n.2253C=
c.1038C= (p.Thr346=)
c.946-139052G= (n.946-139052G=)
6g.44302838G>TCA138385402AARS2,POLR1C,TMEM151Bc.2328C>A (p.Thr776=)
c.577-4105G>T (n.577-4105G>T)
c.314-4105G>T
c.2037C>A (p.Thr679=)
n.2253C>A
c.1038C>A (p.Thr346=)
c.946-139052G>T (n.946-139052G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44302839G>ACA364337137AARS2,POLR1C,TMEM151Bc.2327C>T (p.Thr776Ile)
c.577-4104G>A (n.577-4104G>A)
c.314-4104G>A
c.2036C>T (p.Thr679Ile)
n.2252C>T
c.1037C>T (p.Thr346Ile)
c.946-139051G>A (n.946-139051G>A)
6g.44302839G>CCA364337136AARS2,POLR1C,TMEM151Bc.2327C>G (p.Thr776Ser)
c.577-4104G>C (n.577-4104G>C)
c.314-4104G>C
c.2036C>G (p.Thr679Ser)
n.2252C>G
c.1037C>G (p.Thr346Ser)
c.946-139051G>C (n.946-139051G>C)
6g.44302839G>TCA364337135AARS2,POLR1C,TMEM151Bc.2327C>A (p.Thr776Asn)
c.577-4104G>T (n.577-4104G>T)
c.314-4104G>T
c.2036C>A (p.Thr679Asn)
n.2252C>A
c.1037C>A (p.Thr346Asn)
c.946-139051G>T (n.946-139051G>T)
6g.44302840T>ACA364337138AARS2,POLR1C,TMEM151Bc.2326A>T (p.Thr776Ser)
c.577-4103T>A (n.577-4103T>A)
c.314-4103T>A
c.2035A>T (p.Thr679Ser)
n.2251A>T
c.1036A>T (p.Thr346Ser)
c.946-139050T>A (n.946-139050T>A)
6g.44302840T>CCA364337139AARS2,POLR1C,TMEM151Bc.2326A>G (p.Thr776Ala)
c.577-4103T>C (n.577-4103T>C)
c.314-4103T>C
c.2035A>G (p.Thr679Ala)
n.2251A>G
c.1036A>G (p.Thr346Ala)
c.946-139050T>C (n.946-139050T>C)
 dbSNP
6g.44302840T>GCA364337140AARS2,POLR1C,TMEM151Bc.2326A>C (p.Thr776Pro)
c.577-4103T>G (n.577-4103T>G)
c.314-4103T>G
c.2035A>C (p.Thr679Pro)
n.2251A>C
c.1036A>C (p.Thr346Pro)
c.946-139050T>G (n.946-139050T>G)
 dbSNP
6g.44302840T=CA1624923658AARS2,POLR1C,TMEM151Bc.2326A= (p.Thr776=)
c.577-4103T= (n.577-4103T=)
c.314-4103T=
c.2035A= (p.Thr679=)
n.2251A=
c.1036A= (p.Thr346=)
c.946-139050T= (n.946-139050T=)
6g.44302841A>CCA450390789AARS2,POLR1C,TMEM151Bc.2325T>G (p.Thr775=)
c.577-4102A>C (n.577-4102A>C)
c.314-4102A>C
c.2034T>G (p.Thr678=)
n.2250T>G
c.1035T>G (p.Thr345=)
c.946-139049A>C (n.946-139049A>C)
6g.44302841A>GCA450390791AARS2,POLR1C,TMEM151Bc.2325T>C (p.Thr775=)
c.577-4102A>G (n.577-4102A>G)
c.314-4102A>G
c.2034T>C (p.Thr678=)
n.2250T>C
c.1035T>C (p.Thr345=)
c.946-139049A>G (n.946-139049A>G)
6g.44302841A>TCA450390790AARS2,POLR1C,TMEM151Bc.2325T>A (p.Thr775=)
c.577-4102A>T (n.577-4102A>T)
c.314-4102A>T
c.2034T>A (p.Thr678=)
n.2250T>A
c.1035T>A (p.Thr345=)
c.946-139049A>T (n.946-139049A>T)
6g.44302841dupCA2770869203AARS2,POLR1C,TMEM151Bc.2325dup (p.Thr776TyrfsTer30)
c.577-4102dup (n.577-4102dup)
c.314-4102dup
c.2034dup (p.Thr679TyrfsTer30)
n.2250dup
c.1035dup (p.Thr346TyrfsTer30)
c.946-139049dup (n.946-139049dup)
6g.44302842G>ACA364337141AARS2,POLR1C,TMEM151Bc.2324C>T (p.Thr775Ile)
c.577-4101G>A (n.577-4101G>A)
c.314-4101G>A
c.2033C>T (p.Thr678Ile)
n.2249C>T
c.1034C>T (p.Thr345Ile)
c.946-139048G>A (n.946-139048G>A)
6g.44302842G>CCA364337142AARS2,POLR1C,TMEM151Bc.2324C>G (p.Thr775Ser)
c.577-4101G>C (n.577-4101G>C)
c.314-4101G>C
c.2033C>G (p.Thr678Ser)
n.2249C>G
c.1034C>G (p.Thr345Ser)
c.946-139048G>C (n.946-139048G>C)
6g.44302842G>TCA364337143AARS2,POLR1C,TMEM151Bc.2324C>A (p.Thr775Asn)
c.577-4101G>T (n.577-4101G>T)
c.314-4101G>T
c.2033C>A (p.Thr678Asn)
n.2249C>A
c.1034C>A (p.Thr345Asn)
c.946-139048G>T (n.946-139048G>T)
6g.44302843T>ACA364337144AARS2,POLR1C,TMEM151Bc.2323A>T (p.Thr775Ser)
c.577-4100T>A (n.577-4100T>A)
c.314-4100T>A
c.2032A>T (p.Thr678Ser)
n.2248A>T
c.1033A>T (p.Thr345Ser)
c.946-139047T>A (n.946-139047T>A)
6g.44302843T>CCA138385405AARS2,POLR1C,TMEM151Bc.2323A>G (p.Thr775Ala)
c.577-4100T>C (n.577-4100T>C)
c.314-4100T>C
c.2032A>G (p.Thr678Ala)
n.2248A>G
c.1033A>G (p.Thr345Ala)
c.946-139047T>C (n.946-139047T>C)
 dbSNP gnomAD v4
6g.44302843T>GCA364337145AARS2,POLR1C,TMEM151Bc.2323A>C (p.Thr775Pro)
c.577-4100T>G (n.577-4100T>G)
c.314-4100T>G
c.2032A>C (p.Thr678Pro)
n.2248A>C
c.1033A>C (p.Thr345Pro)
c.946-139047T>G (n.946-139047T>G)
 gnomAD v4
6g.44302843T=CA1624923661AARS2,POLR1C,TMEM151Bc.2323A= (p.Thr775=)
c.577-4100T= (n.577-4100T=)
c.314-4100T=
c.2032A= (p.Thr678=)
n.2248A=
c.1033A= (p.Thr345=)
c.946-139047T= (n.946-139047T=)
6g.44302844G>ACA3834022AARS2,POLR1C,TMEM151Bc.2322C>T (p.Gly774=)
c.577-4099G>A (n.577-4099G>A)
c.314-4099G>A
c.2031C>T (p.Gly677=)
n.2247C>T
c.1032C>T (p.Gly344=)
c.946-139046G>A (n.946-139046G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302844G>CCA450390792AARS2,POLR1C,TMEM151Bc.2322C>G (p.Gly774=)
c.577-4099G>C (n.577-4099G>C)
c.314-4099G>C
c.2031C>G (p.Gly677=)
n.2247C>G
c.1032C>G (p.Gly344=)
c.946-139046G>C (n.946-139046G>C)
6g.44302844G=CA1624923665AARS2,POLR1C,TMEM151Bc.2322C= (p.Gly774=)
c.577-4099G= (n.577-4099G=)
c.314-4099G=
c.2031C= (p.Gly677=)
n.2247C=
c.1032C= (p.Gly344=)
c.946-139046G= (n.946-139046G=)
6g.44302844G>TCA450390793AARS2,POLR1C,TMEM151Bc.2322C>A (p.Gly774=)
c.577-4099G>T (n.577-4099G>T)
c.314-4099G>T
c.2031C>A (p.Gly677=)
n.2247C>A
c.1032C>A (p.Gly344=)
c.946-139046G>T (n.946-139046G>T)
 gnomAD v4
6g.44302845C>ACA364337146AARS2,POLR1C,TMEM151Bc.2321G>T (p.Gly774Val)
c.577-4098C>A (n.577-4098C>A)
c.314-4098C>A
c.2030G>T (p.Gly677Val)
n.2246G>T
c.1031G>T (p.Gly344Val)
c.946-139045C>A (n.946-139045C>A)
6g.44302845C>GCA364337147AARS2,POLR1C,TMEM151Bc.2321G>C (p.Gly774Ala)
c.577-4098C>G (n.577-4098C>G)
c.314-4098C>G
c.2030G>C (p.Gly677Ala)
n.2246G>C
c.1031G>C (p.Gly344Ala)
c.946-139045C>G (n.946-139045C>G)
6g.44302845C>TCA364337148AARS2,POLR1C,TMEM151Bc.2321G>A (p.Gly774Asp)
c.577-4098C>T (n.577-4098C>T)
c.314-4098C>T
c.2030G>A (p.Gly677Asp)
n.2246G>A
c.1031G>A (p.Gly344Asp)
c.946-139045C>T (n.946-139045C>T)
 gnomAD v4
6g.44302846C>ACA364337149AARS2,POLR1C,TMEM151Bc.2320G>T (p.Gly774Cys)
c.577-4097C>A (n.577-4097C>A)
c.314-4097C>A
c.2029G>T (p.Gly677Cys)
n.2245G>T
c.1030G>T (p.Gly344Cys)
c.946-139044C>A (n.946-139044C>A)
6g.44302846C>GCA364337150AARS2,POLR1C,TMEM151Bc.2320G>C (p.Gly774Arg)
c.577-4097C>G (n.577-4097C>G)
c.314-4097C>G
c.2029G>C (p.Gly677Arg)
n.2245G>C
c.1030G>C (p.Gly344Arg)
c.946-139044C>G (n.946-139044C>G)
6g.44302846C>TCA364337151AARS2,POLR1C,TMEM151Bc.2320G>A (p.Gly774Ser)
c.577-4097C>T (n.577-4097C>T)
c.314-4097C>T
c.2029G>A (p.Gly677Ser)
n.2245G>A
c.1030G>A (p.Gly344Ser)
c.946-139044C>T (n.946-139044C>T)
6g.44302847C>ACA364337153AARS2,POLR1C,TMEM151Bc.2319G>T (p.Lys773Asn)
c.577-4096C>A (n.577-4096C>A)
c.314-4096C>A
c.2028G>T (p.Lys676Asn)
n.2244G>T
c.1029G>T (p.Lys343Asn)
c.946-139043C>A (n.946-139043C>A)
6g.44302847C>GCA364337152AARS2,POLR1C,TMEM151Bc.2319G>C (p.Lys773Asn)
c.577-4096C>G (n.577-4096C>G)
c.314-4096C>G
c.2028G>C (p.Lys676Asn)
n.2244G>C
c.1029G>C (p.Lys343Asn)
c.946-139043C>G (n.946-139043C>G)
6g.44302847C>TCA450390794AARS2,POLR1C,TMEM151Bc.2319G>A (p.Lys773=)
c.577-4096C>T (n.577-4096C>T)
c.314-4096C>T
c.2028G>A (p.Lys676=)
n.2244G>A
c.1029G>A (p.Lys343=)
c.946-139043C>T (n.946-139043C>T)
6g.44302848T>ACA364337154AARS2,POLR1C,TMEM151Bc.2318A>T (p.Lys773Met)
c.577-4095T>A (n.577-4095T>A)
c.314-4095T>A
c.2027A>T (p.Lys676Met)
n.2243A>T
c.1028A>T (p.Lys343Met)
c.946-139042T>A (n.946-139042T>A)
6g.44302848T>CCA364337155AARS2,POLR1C,TMEM151Bc.2318A>G (p.Lys773Arg)
c.577-4095T>C (n.577-4095T>C)
c.314-4095T>C
c.2027A>G (p.Lys676Arg)
n.2243A>G
c.1028A>G (p.Lys343Arg)
c.946-139042T>C (n.946-139042T>C)
6g.44302848T>GCA364337156AARS2,POLR1C,TMEM151Bc.2318A>C (p.Lys773Thr)
c.577-4095T>G (n.577-4095T>G)
c.314-4095T>G
c.2027A>C (p.Lys676Thr)
n.2243A>C
c.1028A>C (p.Lys343Thr)
c.946-139042T>G (n.946-139042T>G)
6g.44302849T>ACA364337157AARS2,POLR1C,TMEM151Bc.2317A>T (p.Lys773Ter)
c.577-4094T>A (n.577-4094T>A)
c.314-4094T>A
c.2026A>T (p.Lys676Ter)
n.2242A>T
c.1027A>T (p.Lys343Ter)
c.946-139041T>A (n.946-139041T>A)
6g.44302849T>CCA138385418AARS2,POLR1C,TMEM151Bc.2317A>G (p.Lys773Glu)
c.577-4094T>C (n.577-4094T>C)
c.314-4094T>C
c.2026A>G (p.Lys676Glu)
n.2242A>G
c.1027A>G (p.Lys343Glu)
c.946-139041T>C (n.946-139041T>C)
 dbSNP gnomAD v4
6g.44302849T>GCA364337158AARS2,POLR1C,TMEM151Bc.2317A>C (p.Lys773Gln)
c.577-4094T>G (n.577-4094T>G)
c.314-4094T>G
c.2026A>C (p.Lys676Gln)
n.2242A>C
c.1027A>C (p.Lys343Gln)
c.946-139041T>G (n.946-139041T>G)
6g.44302849T=CA1624923668AARS2,POLR1C,TMEM151Bc.2317A= (p.Lys773=)
c.577-4094T= (n.577-4094T=)
c.314-4094T=
c.2026A= (p.Lys676=)
n.2242A=
c.1027A= (p.Lys343=)
c.946-139041T= (n.946-139041T=)
6g.44302850G>ACA450390797AARS2,POLR1C,TMEM151Bc.2316C>T (p.Ser772=)
c.577-4093G>A (n.577-4093G>A)
c.314-4093G>A
c.2025C>T (p.Ser675=)
n.2241C>T
c.1026C>T (p.Ser342=)
c.946-139040G>A (n.946-139040G>A)
6g.44302850G>CCA450390796AARS2,POLR1C,TMEM151Bc.2316C>G (p.Ser772=)
c.577-4093G>C (n.577-4093G>C)
c.314-4093G>C
c.2025C>G (p.Ser675=)
n.2241C>G
c.1026C>G (p.Ser342=)
c.946-139040G>C (n.946-139040G>C)
 dbSNP gnomAD v4
6g.44302850G=CA1624923671AARS2,POLR1C,TMEM151Bc.2316C= (p.Ser772=)
c.577-4093G= (n.577-4093G=)
c.314-4093G=
c.2025C= (p.Ser675=)
n.2241C=
c.1026C= (p.Ser342=)
c.946-139040G= (n.946-139040G=)
6g.44302850G>TCA450390795AARS2,POLR1C,TMEM151Bc.2316C>A (p.Ser772=)
c.577-4093G>T (n.577-4093G>T)
c.314-4093G>T
c.2025C>A (p.Ser675=)
n.2241C>A
c.1026C>A (p.Ser342=)
c.946-139040G>T (n.946-139040G>T)
6g.44302851G>ACA364337159AARS2,POLR1C,TMEM151Bc.2315C>T (p.Ser772Phe)
c.577-4092G>A (n.577-4092G>A)
c.314-4092G>A
c.2024C>T (p.Ser675Phe)
n.2240C>T
c.1025C>T (p.Ser342Phe)
c.946-139039G>A (n.946-139039G>A)
6g.44302851G>CCA364337161AARS2,POLR1C,TMEM151Bc.2315C>G (p.Ser772Cys)
c.577-4092G>C (n.577-4092G>C)
c.314-4092G>C
c.2024C>G (p.Ser675Cys)
n.2240C>G
c.1025C>G (p.Ser342Cys)
c.946-139039G>C (n.946-139039G>C)
6g.44302851G>TCA364337160AARS2,POLR1C,TMEM151Bc.2315C>A (p.Ser772Tyr)
c.577-4092G>T (n.577-4092G>T)
c.314-4092G>T
c.2024C>A (p.Ser675Tyr)
n.2240C>A
c.1025C>A (p.Ser342Tyr)
c.946-139039G>T (n.946-139039G>T)
6g.44302852A>CCA364337162AARS2,POLR1C,TMEM151Bc.2314T>G (p.Ser772Ala)
c.577-4091A>C (n.577-4091A>C)
c.314-4091A>C
c.2023T>G (p.Ser675Ala)
n.2239T>G
c.1024T>G (p.Ser342Ala)
c.946-139038A>C (n.946-139038A>C)
6g.44302852A>GCA364337163AARS2,POLR1C,TMEM151Bc.2314T>C (p.Ser772Pro)
c.577-4091A>G (n.577-4091A>G)
c.314-4091A>G
c.2023T>C (p.Ser675Pro)
n.2239T>C
c.1024T>C (p.Ser342Pro)
c.946-139038A>G (n.946-139038A>G)
6g.44302852A>TCA364337164AARS2,POLR1C,TMEM151Bc.2314T>A (p.Ser772Thr)
c.577-4091A>T (n.577-4091A>T)
c.314-4091A>T
c.2023T>A (p.Ser675Thr)
n.2239T>A
c.1024T>A (p.Ser342Thr)
c.946-139038A>T (n.946-139038A>T)
6g.44302853A=CA1624923675AARS2,POLR1C,TMEM151Bc.2313T= (p.Leu771=)
c.577-4090A= (n.577-4090A=)
c.314-4090A=
c.2022T= (p.Leu674=)
n.2238T=
c.1023T= (p.Leu341=)
c.946-139037A= (n.946-139037A=)
6g.44302853A>CCA450390798AARS2,POLR1C,TMEM151Bc.2313T>G (p.Leu771=)
c.577-4090A>C (n.577-4090A>C)
c.314-4090A>C
c.2022T>G (p.Leu674=)
n.2238T>G
c.1023T>G (p.Leu341=)
c.946-139037A>C (n.946-139037A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.44302853A>GCA450390799AARS2,POLR1C,TMEM151Bc.2313T>C (p.Leu771=)
c.577-4090A>G (n.577-4090A>G)
c.314-4090A>G
c.2022T>C (p.Leu674=)
n.2238T>C
c.1023T>C (p.Leu341=)
c.946-139037A>G (n.946-139037A>G)
6g.44302853A>TCA450390800AARS2,POLR1C,TMEM151Bc.2313T>A (p.Leu771=)
c.577-4090A>T (n.577-4090A>T)
c.314-4090A>T
c.2022T>A (p.Leu674=)
n.2238T>A
c.1023T>A (p.Leu341=)
c.946-139037A>T (n.946-139037A>T)
6g.44302854A>CCA364337165AARS2,POLR1C,TMEM151Bc.2312T>G (p.Leu771Arg)
c.577-4089A>C (n.577-4089A>C)
c.314-4089A>C
c.2021T>G (p.Leu674Arg)
n.2237T>G
c.1022T>G (p.Leu341Arg)
c.946-139036A>C (n.946-139036A>C)
6g.44302854A>GCA364337166AARS2,POLR1C,TMEM151Bc.2312T>C (p.Leu771Pro)
c.577-4089A>G (n.577-4089A>G)
c.314-4089A>G
c.2021T>C (p.Leu674Pro)
n.2237T>C
c.1022T>C (p.Leu341Pro)
c.946-139036A>G (n.946-139036A>G)
6g.44302854A>TCA364337167AARS2,POLR1C,TMEM151Bc.2312T>A (p.Leu771His)
c.577-4089A>T (n.577-4089A>T)
c.314-4089A>T
c.2021T>A (p.Leu674His)
n.2237T>A
c.1022T>A (p.Leu341His)
c.946-139036A>T (n.946-139036A>T)
6g.44302855G>ACA364337168AARS2,POLR1C,TMEM151Bc.2311C>T (p.Leu771Phe)
c.577-4088G>A (n.577-4088G>A)
c.314-4088G>A
c.2020C>T (p.Leu674Phe)
n.2236C>T
c.1021C>T (p.Leu341Phe)
c.946-139035G>A (n.946-139035G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.44302855G>CCA364337169AARS2,POLR1C,TMEM151Bc.2311C>G (p.Leu771Val)
c.577-4088G>C (n.577-4088G>C)
c.314-4088G>C
c.2020C>G (p.Leu674Val)
n.2236C>G
c.1021C>G (p.Leu341Val)
c.946-139035G>C (n.946-139035G>C)
6g.44302855G=CA1624923677AARS2,POLR1C,TMEM151Bc.2311C= (p.Leu771=)
c.577-4088G= (n.577-4088G=)
c.314-4088G=
c.2020C= (p.Leu674=)
n.2236C=
c.1021C= (p.Leu341=)
c.946-139035G= (n.946-139035G=)
6g.44302855G>TCA364337170AARS2,POLR1C,TMEM151Bc.2311C>A (p.Leu771Ile)
c.577-4088G>T (n.577-4088G>T)
c.314-4088G>T
c.2020C>A (p.Leu674Ile)
n.2236C>A
c.1021C>A (p.Leu341Ile)
c.946-139035G>T (n.946-139035G>T)
6g.44302856C>ACA364337171AARS2,POLR1C,TMEM151Bc.2310G>T (p.Gln770His)
c.577-4087C>A (n.577-4087C>A)
c.314-4087C>A
c.2019G>T (p.Gln673His)
n.2235G>T
c.1020G>T (p.Gln340His)
c.946-139034C>A (n.946-139034C>A)
6g.44302856C>GCA364337172AARS2,POLR1C,TMEM151Bc.2310G>C (p.Gln770His)
c.577-4087C>G (n.577-4087C>G)
c.314-4087C>G
c.2019G>C (p.Gln673His)
n.2235G>C
c.1020G>C (p.Gln340His)
c.946-139034C>G (n.946-139034C>G)
6g.44302856C>TCA450390801AARS2,POLR1C,TMEM151Bc.2310G>A (p.Gln770=)
c.577-4087C>T (n.577-4087C>T)
c.314-4087C>T
c.2019G>A (p.Gln673=)
n.2235G>A
c.1020G>A (p.Gln340=)
c.946-139034C>T (n.946-139034C>T)
6g.44302857T>ACA364337173AARS2,POLR1C,TMEM151Bc.2309A>T (p.Gln770Leu)
c.577-4086T>A (n.577-4086T>A)
c.314-4086T>A
c.2018A>T (p.Gln673Leu)
n.2234A>T
c.1019A>T (p.Gln340Leu)
c.946-139033T>A (n.946-139033T>A)
6g.44302857T>CCA364337175AARS2,POLR1C,TMEM151Bc.2309A>G (p.Gln770Arg)
c.577-4086T>C (n.577-4086T>C)
c.314-4086T>C
c.2018A>G (p.Gln673Arg)
n.2234A>G
c.1019A>G (p.Gln340Arg)
c.946-139033T>C (n.946-139033T>C)
 gnomAD v4
6g.44302857T>GCA364337174AARS2,POLR1C,TMEM151Bc.2309A>C (p.Gln770Pro)
c.577-4086T>G (n.577-4086T>G)
c.314-4086T>G
c.2018A>C (p.Gln673Pro)
n.2234A>C
c.1019A>C (p.Gln340Pro)
c.946-139033T>G (n.946-139033T>G)
6g.44302858G>ACA3834023AARS2,POLR1C,TMEM151Bc.2308C>T (p.Gln770Ter)
c.577-4085G>A (n.577-4085G>A)
c.314-4085G>A
c.2017C>T (p.Gln673Ter)
n.2233C>T
c.1018C>T (p.Gln340Ter)
c.946-139032G>A (n.946-139032G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302858G>CCA364337177AARS2,POLR1C,TMEM151Bc.2308C>G (p.Gln770Glu)
c.577-4085G>C (n.577-4085G>C)
c.314-4085G>C
c.2017C>G (p.Gln673Glu)
n.2233C>G
c.1018C>G (p.Gln340Glu)
c.946-139032G>C (n.946-139032G>C)
6g.44302858G=CA1624923679AARS2,POLR1C,TMEM151Bc.2308C= (p.Gln770=)
c.577-4085G= (n.577-4085G=)
c.314-4085G=
c.2017C= (p.Gln673=)
n.2233C=
c.1018C= (p.Gln340=)
c.946-139032G= (n.946-139032G=)
6g.44302858G>TCA364337176AARS2,POLR1C,TMEM151Bc.2308C>A (p.Gln770Lys)
c.577-4085G>T (n.577-4085G>T)
c.314-4085G>T
c.2017C>A (p.Gln673Lys)
n.2233C>A
c.1018C>A (p.Gln340Lys)
c.946-139032G>T (n.946-139032G>T)
6g.44302859G>ACA450390802AARS2,POLR1C,TMEM151Bc.2307C>T (p.Arg769=)
c.577-4084G>A (n.577-4084G>A)
c.314-4084G>A
c.2016C>T (p.Arg672=)
n.2232C>T
c.1017C>T (p.Arg339=)
c.946-139031G>A (n.946-139031G>A)
6g.44302859G>CCA450390803AARS2,POLR1C,TMEM151Bc.2307C>G (p.Arg769=)
c.577-4084G>C (n.577-4084G>C)
c.314-4084G>C
c.2016C>G (p.Arg672=)
n.2232C>G
c.1017C>G (p.Arg339=)
c.946-139031G>C (n.946-139031G>C)
6g.44302859G>TCA450390804AARS2,POLR1C,TMEM151Bc.2307C>A (p.Arg769=)
c.577-4084G>T (n.577-4084G>T)
c.314-4084G>T
c.2016C>A (p.Arg672=)
n.2232C>A
c.1017C>A (p.Arg339=)
c.946-139031G>T (n.946-139031G>T)
6g.44302860C>ACA364337178AARS2,POLR1C,TMEM151Bc.2306G>T (p.Arg769Leu)
c.577-4083C>A (n.577-4083C>A)
c.314-4083C>A
c.2015G>T (p.Arg672Leu)
n.2231G>T
c.1016G>T (p.Arg339Leu)
c.946-139030C>A (n.946-139030C>A)
 gnomAD v4
6g.44302860C=CA1624923682AARS2,POLR1C,TMEM151Bc.2306G= (p.Arg769=)
c.577-4083C= (n.577-4083C=)
c.314-4083C=
c.2015G= (p.Arg672=)
n.2231G=
c.1016G= (p.Arg339=)
c.946-139030C= (n.946-139030C=)
6g.44302860C>GCA364337179AARS2,POLR1C,TMEM151Bc.2306G>C (p.Arg769Pro)
c.577-4083C>G (n.577-4083C>G)
c.314-4083C>G
c.2015G>C (p.Arg672Pro)
n.2231G>C
c.1016G>C (p.Arg339Pro)
c.946-139030C>G (n.946-139030C>G)
 gnomAD v4
6g.44302860C>TCA3834024AARS2,POLR1C,TMEM151Bc.2306G>A (p.Arg769His)
c.577-4083C>T (n.577-4083C>T)
c.314-4083C>T
c.2015G>A (p.Arg672His)
n.2231G>A
c.1016G>A (p.Arg339His)
c.946-139030C>T (n.946-139030C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302861G>ACA3834025AARS2,POLR1C,TMEM151Bc.2305C>T (p.Arg769Cys)
c.577-4082G>A (n.577-4082G>A)
c.314-4082G>A
c.2014C>T (p.Arg672Cys)
n.2230C>T
c.1015C>T (p.Arg339Cys)
c.946-139029G>A (n.946-139029G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302861G>CCA364337180AARS2,POLR1C,TMEM151Bc.2305C>G (p.Arg769Gly)
c.577-4082G>C (n.577-4082G>C)
c.314-4082G>C
c.2014C>G (p.Arg672Gly)
n.2230C>G
c.1015C>G (p.Arg339Gly)
c.946-139029G>C (n.946-139029G>C)
6g.44302861G=CA1624923684AARS2,POLR1C,TMEM151Bc.2305C= (p.Arg769=)
c.577-4082G= (n.577-4082G=)
c.314-4082G=
c.2014C= (p.Arg672=)
n.2230C=
c.1015C= (p.Arg339=)
c.946-139029G= (n.946-139029G=)
6g.44302861G>TCA364337181AARS2,POLR1C,TMEM151Bc.2305C>A (p.Arg769Ser)
c.577-4082G>T (n.577-4082G>T)
c.314-4082G>T
c.2014C>A (p.Arg672Ser)
n.2230C>A
c.1015C>A (p.Arg339Ser)
c.946-139029G>T (n.946-139029G>T)
6g.44302862G>ACA450390805AARS2,POLR1C,TMEM151Bc.2304C>T (p.Asp768=)
c.577-4081G>A (n.577-4081G>A)
c.314-4081G>A
c.2013C>T (p.Asp671=)
n.2229C>T
c.1014C>T (p.Asp338=)
c.946-139028G>A (n.946-139028G>A)
 dbSNP gnomAD v2
6g.44302862G>CCA364337182AARS2,POLR1C,TMEM151Bc.2304C>G (p.Asp768Glu)
c.577-4081G>C (n.577-4081G>C)
c.314-4081G>C
c.2013C>G (p.Asp671Glu)
n.2229C>G
c.1014C>G (p.Asp338Glu)
c.946-139028G>C (n.946-139028G>C)
 dbSNP
6g.44302862G=CA1624923688AARS2,POLR1C,TMEM151Bc.2304C= (p.Asp768=)
c.577-4081G= (n.577-4081G=)
c.314-4081G=
c.2013C= (p.Asp671=)
n.2229C=
c.1014C= (p.Asp338=)
c.946-139028G= (n.946-139028G=)
6g.44302862G>TCA364337183AARS2,POLR1C,TMEM151Bc.2304C>A (p.Asp768Glu)
c.577-4081G>T (n.577-4081G>T)
c.314-4081G>T
c.2013C>A (p.Asp671Glu)
n.2229C>A
c.1014C>A (p.Asp338Glu)
c.946-139028G>T (n.946-139028G>T)
6g.44302863delCA2578633155AARS2,POLR1C,TMEM151Bc.2303del (p.Asp768AlafsTer25)
c.577-4080del (n.577-4080del)
c.314-4080del
c.2012del (p.Asp671AlafsTer25)
n.2228del
c.1013del (p.Asp338AlafsTer25)
c.946-139027del (n.946-139027del)
6g.44302863T>ACA364337184AARS2,POLR1C,TMEM151Bc.2303A>T (p.Asp768Val)
c.577-4080T>A (n.577-4080T>A)
c.314-4080T>A
c.2012A>T (p.Asp671Val)
n.2228A>T
c.1013A>T (p.Asp338Val)
c.946-139027T>A (n.946-139027T>A)
6g.44302863T>CCA364337185AARS2,POLR1C,TMEM151Bc.2303A>G (p.Asp768Gly)
c.577-4080T>C (n.577-4080T>C)
c.314-4080T>C
c.2012A>G (p.Asp671Gly)
n.2228A>G
c.1013A>G (p.Asp338Gly)
c.946-139027T>C (n.946-139027T>C)
6g.44302863T>GCA364337186AARS2,POLR1C,TMEM151Bc.2303A>C (p.Asp768Ala)
c.577-4080T>G (n.577-4080T>G)
c.314-4080T>G
c.2012A>C (p.Asp671Ala)
n.2228A>C
c.1013A>C (p.Asp338Ala)
c.946-139027T>G (n.946-139027T>G)
6g.44302864C>ACA364337189AARS2,POLR1C,TMEM151Bc.2302G>T (p.Asp768Tyr)
c.577-4079C>A (n.577-4079C>A)
c.314-4079C>A
c.2011G>T (p.Asp671Tyr)
n.2227G>T
c.1012G>T (p.Asp338Tyr)
c.946-139026C>A (n.946-139026C>A)
6g.44302864C>GCA364337188AARS2,POLR1C,TMEM151Bc.2302G>C (p.Asp768His)
c.577-4079C>G (n.577-4079C>G)
c.314-4079C>G
c.2011G>C (p.Asp671His)
n.2227G>C
c.1012G>C (p.Asp338His)
c.946-139026C>G (n.946-139026C>G)
 gnomAD v4
6g.44302864C>TCA364337187AARS2,POLR1C,TMEM151Bc.2302G>A (p.Asp768Asn)
c.577-4079C>T (n.577-4079C>T)
c.314-4079C>T
c.2011G>A (p.Asp671Asn)
n.2227G>A
c.1012G>A (p.Asp338Asn)
c.946-139026C>T (n.946-139026C>T)
6g.44302865C>ACA450390808AARS2,POLR1C,TMEM151Bc.2301G>T (p.Gly767=)
c.577-4078C>A (n.577-4078C>A)
c.314-4078C>A
c.2010G>T (p.Gly670=)
n.2226G>T
c.1011G>T (p.Gly337=)
c.946-139025C>A (n.946-139025C>A)
6g.44302865C=CA1624923692AARS2,POLR1C,TMEM151Bc.2301G= (p.Gly767=)
c.577-4078C= (n.577-4078C=)
c.314-4078C=
c.2010G= (p.Gly670=)
n.2226G=
c.1011G= (p.Gly337=)
c.946-139025C= (n.946-139025C=)
6g.44302865C>GCA3834026AARS2,POLR1C,TMEM151Bc.2301G>C (p.Gly767=)
c.577-4078C>G (n.577-4078C>G)
c.314-4078C>G
c.2010G>C (p.Gly670=)
n.2226G>C
c.1011G>C (p.Gly337=)
c.946-139025C>G (n.946-139025C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302865C>TCA450390812AARS2,POLR1C,TMEM151Bc.2301G>A (p.Gly767=)
c.577-4078C>T (n.577-4078C>T)
c.314-4078C>T
c.2010G>A (p.Gly670=)
n.2226G>A
c.1011G>A (p.Gly337=)
c.946-139025C>T (n.946-139025C>T)
 gnomAD v4
6g.44302866C>ACA364337190AARS2,POLR1C,TMEM151Bc.2300G>T (p.Gly767Val)
c.577-4077C>A (n.577-4077C>A)
c.314-4077C>A
c.2009G>T (p.Gly670Val)
n.2225G>T
c.1010G>T (p.Gly337Val)
c.946-139024C>A (n.946-139024C>A)
6g.44302866C>GCA364337191AARS2,POLR1C,TMEM151Bc.2300G>C (p.Gly767Ala)
c.577-4077C>G (n.577-4077C>G)
c.314-4077C>G
c.2009G>C (p.Gly670Ala)
n.2225G>C
c.1010G>C (p.Gly337Ala)
c.946-139024C>G (n.946-139024C>G)
6g.44302866C>TCA364337192AARS2,POLR1C,TMEM151Bc.2300G>A (p.Gly767Glu)
c.577-4077C>T (n.577-4077C>T)
c.314-4077C>T
c.2009G>A (p.Gly670Glu)
n.2225G>A
c.1010G>A (p.Gly337Glu)
c.946-139024C>T (n.946-139024C>T)
6g.44302867C>ACA364337193AARS2,POLR1C,TMEM151Bc.2299G>T (p.Gly767Trp)
c.577-4076C>A (n.577-4076C>A)
c.314-4076C>A
c.2008G>T (p.Gly670Trp)
n.2224G>T
c.1009G>T (p.Gly337Trp)
c.946-139023C>A (n.946-139023C>A)
6g.44302867C=CA1624923697AARS2,POLR1C,TMEM151Bc.2299G= (p.Gly767=)
c.577-4076C= (n.577-4076C=)
c.314-4076C=
c.2008G= (p.Gly670=)
n.2224G=
c.1009G= (p.Gly337=)
c.946-139023C= (n.946-139023C=)
6g.44302867C>GCA364337194AARS2,POLR1C,TMEM151Bc.2299G>C (p.Gly767Arg)
c.577-4076C>G (n.577-4076C>G)
c.314-4076C>G
c.2008G>C (p.Gly670Arg)
n.2224G>C
c.1009G>C (p.Gly337Arg)
c.946-139023C>G (n.946-139023C>G)
 gnomAD v4
6g.44302867C>TCA3834027AARS2,POLR1C,TMEM151Bc.2299G>A (p.Gly767Arg)
c.577-4076C>T (n.577-4076C>T)
c.314-4076C>T
c.2008G>A (p.Gly670Arg)
n.2224G>A
c.1009G>A (p.Gly337Arg)
c.946-139023C>T (n.946-139023C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302868G>ACA450390814AARS2,POLR1C,TMEM151Bc.2298C>T (p.Ile766=)
c.577-4075G>A (n.577-4075G>A)
c.314-4075G>A
c.2007C>T (p.Ile669=)
n.2223C>T
c.1008C>T (p.Ile336=)
c.946-139022G>A (n.946-139022G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.44302868G>CCA364337195AARS2,POLR1C,TMEM151Bc.2298C>G (p.Ile766Met)
c.577-4075G>C (n.577-4075G>C)
c.314-4075G>C
c.2007C>G (p.Ile669Met)
n.2223C>G
c.1008C>G (p.Ile336Met)
c.946-139022G>C (n.946-139022G>C)
 dbSNP gnomAD v2 gnomAD v4
6g.44302868G=CA1624923700AARS2,POLR1C,TMEM151Bc.2298C= (p.Ile766=)
c.577-4075G= (n.577-4075G=)
c.314-4075G=
c.2007C= (p.Ile669=)
n.2223C=
c.1008C= (p.Ile336=)
c.946-139022G= (n.946-139022G=)
6g.44302868G>TCA3834028AARS2,POLR1C,TMEM151Bc.2298C>A (p.Ile766=)
c.577-4075G>T (n.577-4075G>T)
c.314-4075G>T
c.2007C>A (p.Ile669=)
n.2223C>A
c.1008C>A (p.Ile336=)
c.946-139022G>T (n.946-139022G>T)
 dbSNP ExAC gnomAD v2
6g.44302869A=CA1624923704AARS2,POLR1C,TMEM151Bc.2297T= (p.Ile766=)
c.577-4074A= (n.577-4074A=)
c.314-4074A=
c.2006T= (p.Ile669=)
n.2222T=
c.1007T= (p.Ile336=)
c.946-139021A= (n.946-139021A=)
6g.44302869A>CCA3834029AARS2,POLR1C,TMEM151Bc.2297T>G (p.Ile766Ser)
c.577-4074A>C (n.577-4074A>C)
c.314-4074A>C
c.2006T>G (p.Ile669Ser)
n.2222T>G
c.1007T>G (p.Ile336Ser)
c.946-139021A>C (n.946-139021A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302869A>GCA364337196AARS2,POLR1C,TMEM151Bc.2297T>C (p.Ile766Thr)
c.577-4074A>G (n.577-4074A>G)
c.314-4074A>G
c.2006T>C (p.Ile669Thr)
n.2222T>C
c.1007T>C (p.Ile336Thr)
c.946-139021A>G (n.946-139021A>G)
6g.44302869A>TCA364337197AARS2,POLR1C,TMEM151Bc.2297T>A (p.Ile766Asn)
c.577-4074A>T (n.577-4074A>T)
c.314-4074A>T
c.2006T>A (p.Ile669Asn)
n.2222T>A
c.1007T>A (p.Ile336Asn)
c.946-139021A>T (n.946-139021A>T)
6g.44302870T>ACA364337200AARS2,POLR1C,TMEM151Bc.2296A>T (p.Ile766Phe)
c.577-4073T>A (n.577-4073T>A)
c.314-4073T>A
c.2005A>T (p.Ile669Phe)
n.2221A>T
c.1006A>T (p.Ile336Phe)
c.946-139020T>A (n.946-139020T>A)
6g.44302870T>CCA364337199AARS2,POLR1C,TMEM151Bc.2296A>G (p.Ile766Val)
c.577-4073T>C (n.577-4073T>C)
c.314-4073T>C
c.2005A>G (p.Ile669Val)
n.2221A>G
c.1006A>G (p.Ile336Val)
c.946-139020T>C (n.946-139020T>C)
6g.44302870T>GCA364337198AARS2,POLR1C,TMEM151Bc.2296A>C (p.Ile766Leu)
c.577-4073T>G (n.577-4073T>G)
c.314-4073T>G
c.2005A>C (p.Ile669Leu)
n.2221A>C
c.1006A>C (p.Ile336Leu)
c.946-139020T>G (n.946-139020T>G)
6g.44302871G>ACA450390818AARS2,POLR1C,TMEM151Bc.2295C>T (p.Ile765=)
c.577-4072G>A (n.577-4072G>A)
c.314-4072G>A
c.2004C>T (p.Ile668=)
n.2220C>T
c.1005C>T (p.Ile335=)
c.946-139019G>A (n.946-139019G>A)
6g.44302871G>CCA364337201AARS2,POLR1C,TMEM151Bc.2295C>G (p.Ile765Met)
c.577-4072G>C (n.577-4072G>C)
c.314-4072G>C
c.2004C>G (p.Ile668Met)
n.2220C>G
c.1005C>G (p.Ile335Met)
c.946-139019G>C (n.946-139019G>C)
6g.44302871G>TCA450390819AARS2,POLR1C,TMEM151Bc.2295C>A (p.Ile765=)
c.577-4072G>T (n.577-4072G>T)
c.314-4072G>T
c.2004C>A (p.Ile668=)
n.2220C>A
c.1005C>A (p.Ile335=)
c.946-139019G>T (n.946-139019G>T)
6g.44302872A>CCA364337202AARS2,POLR1C,TMEM151Bc.2294T>G (p.Ile765Ser)
c.577-4071A>C (n.577-4071A>C)
c.314-4071A>C
c.2003T>G (p.Ile668Ser)
n.2219T>G
c.1004T>G (p.Ile335Ser)
c.946-139018A>C (n.946-139018A>C)
6g.44302872A>GCA364337203AARS2,POLR1C,TMEM151Bc.2294T>C (p.Ile765Thr)
c.577-4071A>G (n.577-4071A>G)
c.314-4071A>G
c.2003T>C (p.Ile668Thr)
n.2219T>C
c.1004T>C (p.Ile335Thr)
c.946-139018A>G (n.946-139018A>G)
6g.44302872A>TCA364337204AARS2,POLR1C,TMEM151Bc.2294T>A (p.Ile765Asn)
c.577-4071A>T (n.577-4071A>T)
c.314-4071A>T
c.2003T>A (p.Ile668Asn)
n.2219T>A
c.1004T>A (p.Ile335Asn)
c.946-139018A>T (n.946-139018A>T)
6g.44302873T>ACA364337205AARS2,POLR1C,TMEM151Bc.2293A>T (p.Ile765Phe)
c.577-4070T>A (n.577-4070T>A)
c.314-4070T>A
c.2002A>T (p.Ile668Phe)
n.2218A>T
c.1003A>T (p.Ile335Phe)
c.946-139017T>A (n.946-139017T>A)
6g.44302873T>CCA3834030AARS2,POLR1C,TMEM151Bc.2293A>G (p.Ile765Val)
c.577-4070T>C (n.577-4070T>C)
c.314-4070T>C
c.2002A>G (p.Ile668Val)
n.2218A>G
c.1003A>G (p.Ile335Val)
c.946-139017T>C (n.946-139017T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302873T>GCA364337206AARS2,POLR1C,TMEM151Bc.2293A>C (p.Ile765Leu)
c.577-4070T>G (n.577-4070T>G)
c.314-4070T>G
c.2002A>C (p.Ile668Leu)
n.2218A>C
c.1003A>C (p.Ile335Leu)
c.946-139017T>G (n.946-139017T>G)
6g.44302873T=CA1624923710AARS2,POLR1C,TMEM151Bc.2293A= (p.Ile765=)
c.577-4070T= (n.577-4070T=)
c.314-4070T=
c.2002A= (p.Ile668=)
n.2218A=
c.1003A= (p.Ile335=)
c.946-139017T= (n.946-139017T=)
6g.44302874A>CCA450390823AARS2,POLR1C,TMEM151Bc.2292T>G (p.Val764=)
c.577-4069A>C (n.577-4069A>C)
c.314-4069A>C
c.2001T>G (p.Val667=)
n.2217T>G
c.1002T>G (p.Val334=)
c.946-139016A>C (n.946-139016A>C)
6g.44302874A>GCA450390824AARS2,POLR1C,TMEM151Bc.2292T>C (p.Val764=)
c.577-4069A>G (n.577-4069A>G)
c.314-4069A>G
c.2001T>C (p.Val667=)
n.2217T>C
c.1002T>C (p.Val334=)
c.946-139016A>G (n.946-139016A>G)
6g.44302874A>TCA450390825AARS2,POLR1C,TMEM151Bc.2292T>A (p.Val764=)
c.577-4069A>T (n.577-4069A>T)
c.314-4069A>T
c.2001T>A (p.Val667=)
n.2217T>A
c.1002T>A (p.Val334=)
c.946-139016A>T (n.946-139016A>T)
6g.44302875A=CA1624923715AARS2,POLR1C,TMEM151Bc.2291T= (p.Val764=)
c.577-4068A= (n.577-4068A=)
c.314-4068A=
c.2000T= (p.Val667=)
n.2216T=
c.1001T= (p.Val334=)
c.946-139015A= (n.946-139015A=)
6g.44302875A>CCA138385471AARS2,POLR1C,TMEM151Bc.2291T>G (p.Val764Gly)
c.577-4068A>C (n.577-4068A>C)
c.314-4068A>C
c.2000T>G (p.Val667Gly)
n.2216T>G
c.1001T>G (p.Val334Gly)
c.946-139015A>C (n.946-139015A>C)
 dbSNP
6g.44302875A>GCA364337207AARS2,POLR1C,TMEM151Bc.2291T>C (p.Val764Ala)
c.577-4068A>G (n.577-4068A>G)
c.314-4068A>G
c.2000T>C (p.Val667Ala)
n.2216T>C
c.1001T>C (p.Val334Ala)
c.946-139015A>G (n.946-139015A>G)
6g.44302875A>TCA364337208AARS2,POLR1C,TMEM151Bc.2291T>A (p.Val764Asp)
c.577-4068A>T (n.577-4068A>T)
c.314-4068A>T
c.2000T>A (p.Val667Asp)
n.2216T>A
c.1001T>A (p.Val334Asp)
c.946-139015A>T (n.946-139015A>T)
6g.44302876C>ACA364337209AARS2,POLR1C,TMEM151Bc.2290G>T (p.Val764Phe)
c.577-4067C>A (n.577-4067C>A)
c.314-4067C>A
c.1999G>T (p.Val667Phe)
n.2215G>T
c.1000G>T (p.Val334Phe)
c.946-139014C>A (n.946-139014C>A)
6g.44302876C>GCA364337210AARS2,POLR1C,TMEM151Bc.2290G>C (p.Val764Leu)
c.577-4067C>G (n.577-4067C>G)
c.314-4067C>G
c.1999G>C (p.Val667Leu)
n.2215G>C
c.1000G>C (p.Val334Leu)
c.946-139014C>G (n.946-139014C>G)
 gnomAD v4
6g.44302876C>TCA364337211AARS2,POLR1C,TMEM151Bc.2290G>A (p.Val764Ile)
c.577-4067C>T (n.577-4067C>T)
c.314-4067C>T
c.1999G>A (p.Val667Ile)
n.2215G>A
c.1000G>A (p.Val334Ile)
c.946-139014C>T (n.946-139014C>T)
6g.44302877C>ACA450390828AARS2,POLR1C,TMEM151Bc.2289G>T (p.Leu763=)
c.577-4066C>A (n.577-4066C>A)
c.314-4066C>A
c.1998G>T (p.Leu666=)
n.2214G>T
c.999G>T (p.Leu333=)
c.946-139013C>A (n.946-139013C>A)
6g.44302877C=CA1624923717AARS2,POLR1C,TMEM151Bc.2289G= (p.Leu763=)
c.577-4066C= (n.577-4066C=)
c.314-4066C=
c.1998G= (p.Leu666=)
n.2214G=
c.999G= (p.Leu333=)
c.946-139013C= (n.946-139013C=)
6g.44302877C>GCA450390830AARS2,POLR1C,TMEM151Bc.2289G>C (p.Leu763=)
c.577-4066C>G (n.577-4066C>G)
c.314-4066C>G
c.1998G>C (p.Leu666=)
n.2214G>C
c.999G>C (p.Leu333=)
c.946-139013C>G (n.946-139013C>G)
6g.44302877C>TCA138385472AARS2,POLR1C,TMEM151Bc.2289G>A (p.Leu763=)
c.577-4066C>T (n.577-4066C>T)
c.314-4066C>T
c.1998G>A (p.Leu666=)
n.2214G>A
c.999G>A (p.Leu333=)
c.946-139013C>T (n.946-139013C>T)
 dbSNP
6g.44302878A>CCA364337214AARS2,POLR1C,TMEM151Bc.2288T>G (p.Leu763Arg)
c.577-4065A>C (n.577-4065A>C)
c.314-4065A>C
c.1997T>G (p.Leu666Arg)
n.2213T>G
c.998T>G (p.Leu333Arg)
c.946-139012A>C (n.946-139012A>C)
6g.44302878A>GCA364337212AARS2,POLR1C,TMEM151Bc.2288T>C (p.Leu763Pro)
c.577-4065A>G (n.577-4065A>G)
c.314-4065A>G
c.1997T>C (p.Leu666Pro)
n.2213T>C
c.998T>C (p.Leu333Pro)
c.946-139012A>G (n.946-139012A>G)
6g.44302878A>TCA364337213AARS2,POLR1C,TMEM151Bc.2288T>A (p.Leu763Gln)
c.577-4065A>T (n.577-4065A>T)
c.314-4065A>T
c.1997T>A (p.Leu666Gln)
n.2213T>A
c.998T>A (p.Leu333Gln)
c.946-139012A>T (n.946-139012A>T)
6g.44302879G>ACA3834031AARS2,POLR1C,TMEM151Bc.2287C>T (p.Leu763=)
c.577-4064G>A (n.577-4064G>A)
c.314-4064G>A
c.1996C>T (p.Leu666=)
n.2212C>T
c.997C>T (p.Leu333=)
c.946-139011G>A (n.946-139011G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302879G>CCA364337215AARS2,POLR1C,TMEM151Bc.2287C>G (p.Leu763Val)
c.577-4064G>C (n.577-4064G>C)
c.314-4064G>C
c.1996C>G (p.Leu666Val)
n.2212C>G
c.997C>G (p.Leu333Val)
c.946-139011G>C (n.946-139011G>C)
6g.44302879G=CA1624923719AARS2,POLR1C,TMEM151Bc.2287C= (p.Leu763=)
c.577-4064G= (n.577-4064G=)
c.314-4064G=
c.1996C= (p.Leu666=)
n.2212C=
c.997C= (p.Leu333=)
c.946-139011G= (n.946-139011G=)
6g.44302879G>TCA364337216AARS2,POLR1C,TMEM151Bc.2287C>A (p.Leu763Met)
c.577-4064G>T (n.577-4064G>T)
c.314-4064G>T
c.1996C>A (p.Leu666Met)
n.2212C>A
c.997C>A (p.Leu333Met)
c.946-139011G>T (n.946-139011G>T)
6g.44302880G>ACA450390832AARS2,POLR1C,TMEM151Bc.2286C>T (p.Asp762=)
c.577-4063G>A (n.577-4063G>A)
c.314-4063G>A
c.1995C>T (p.Asp665=)
n.2211C>T
c.996C>T (p.Asp332=)
c.946-139010G>A (n.946-139010G>A)
 gnomAD v4
6g.44302880G>CCA364337217AARS2,POLR1C,TMEM151Bc.2286C>G (p.Asp762Glu)
c.577-4063G>C (n.577-4063G>C)
c.314-4063G>C
c.1995C>G (p.Asp665Glu)
n.2211C>G
c.996C>G (p.Asp332Glu)
c.946-139010G>C (n.946-139010G>C)
 dbSNP
6g.44302880G>TCA364337218AARS2,POLR1C,TMEM151Bc.2286C>A (p.Asp762Glu)
c.577-4063G>T (n.577-4063G>T)
c.314-4063G>T
c.1995C>A (p.Asp665Glu)
n.2211C>A
c.996C>A (p.Asp332Glu)
c.946-139010G>T (n.946-139010G>T)
6g.44302881T>ACA364337219AARS2,POLR1C,TMEM151Bc.2285A>T (p.Asp762Val)
c.577-4062T>A (n.577-4062T>A)
c.314-4062T>A
c.1994A>T (p.Asp665Val)
n.2210A>T
c.995A>T (p.Asp332Val)
c.946-139009T>A (n.946-139009T>A)
6g.44302881T>CCA364337220AARS2,POLR1C,TMEM151Bc.2285A>G (p.Asp762Gly)
c.577-4062T>C (n.577-4062T>C)
c.314-4062T>C
c.1994A>G (p.Asp665Gly)
n.2210A>G
c.995A>G (p.Asp332Gly)
c.946-139009T>C (n.946-139009T>C)
6g.44302881T>GCA364337221AARS2,POLR1C,TMEM151Bc.2285A>C (p.Asp762Ala)
c.577-4062T>G (n.577-4062T>G)
c.314-4062T>G
c.1994A>C (p.Asp665Ala)
n.2210A>C
c.995A>C (p.Asp332Ala)
c.946-139009T>G (n.946-139009T>G)
 gnomAD v4
6g.44302882C>ACA364337222AARS2,POLR1C,TMEM151Bc.2284G>T (p.Asp762Tyr)
c.577-4061C>A (n.577-4061C>A)
c.314-4061C>A
c.1993G>T (p.Asp665Tyr)
n.2209G>T
c.994G>T (p.Asp332Tyr)
c.946-139008C>A (n.946-139008C>A)
6g.44302882C=CA1624923723AARS2,POLR1C,TMEM151Bc.2284G= (p.Asp762=)
c.577-4061C= (n.577-4061C=)
c.314-4061C=
c.1993G= (p.Asp665=)
n.2209G=
c.994G= (p.Asp332=)
c.946-139008C= (n.946-139008C=)
6g.44302882C>GCA138385473AARS2,POLR1C,TMEM151Bc.2284G>C (p.Asp762His)
c.577-4061C>G (n.577-4061C>G)
c.314-4061C>G
c.1993G>C (p.Asp665His)
n.2209G>C
c.994G>C (p.Asp332His)
c.946-139008C>G (n.946-139008C>G)
 dbSNP gnomAD v4
6g.44302882C>TCA364337223AARS2,POLR1C,TMEM151Bc.2284G>A (p.Asp762Asn)
c.577-4061C>T (n.577-4061C>T)
c.314-4061C>T
c.1993G>A (p.Asp665Asn)
n.2209G>A
c.994G>A (p.Asp332Asn)
c.946-139008C>T (n.946-139008C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.44302883C>ACA3834032AARS2,POLR1C,TMEM151Bc.2283G>T (p.Gly761=)
c.577-4060C>A (n.577-4060C>A)
c.314-4060C>A
c.1992G>T (p.Gly664=)
n.2208G>T
c.993G>T (p.Gly331=)
c.946-139007C>A (n.946-139007C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302883C=CA1624923726AARS2,POLR1C,TMEM151Bc.2283G= (p.Gly761=)
c.577-4060C= (n.577-4060C=)
c.314-4060C=
c.1992G= (p.Gly664=)
n.2208G=
c.993G= (p.Gly331=)
c.946-139007C= (n.946-139007C=)
6g.44302883C>GCA450390837AARS2,POLR1C,TMEM151Bc.2283G>C (p.Gly761=)
c.577-4060C>G (n.577-4060C>G)
c.314-4060C>G
c.1992G>C (p.Gly664=)
n.2208G>C
c.993G>C (p.Gly331=)
c.946-139007C>G (n.946-139007C>G)
6g.44302883C>TCA450390835AARS2,POLR1C,TMEM151Bc.2283G>A (p.Gly761=)
c.577-4060C>T (n.577-4060C>T)
c.314-4060C>T
c.1992G>A (p.Gly664=)
n.2208G>A
c.993G>A (p.Gly331=)
c.946-139007C>T (n.946-139007C>T)
 gnomAD v4
6g.44302884C>ACA364337226AARS2,POLR1C,TMEM151Bc.2282G>T (p.Gly761Val)
c.577-4059C>A (n.577-4059C>A)
c.314-4059C>A
c.1991G>T (p.Gly664Val)
n.2207G>T
c.992G>T (p.Gly331Val)
c.946-139006C>A (n.946-139006C>A)
 gnomAD v4
6g.44302884C>GCA364337224AARS2,POLR1C,TMEM151Bc.2282G>C (p.Gly761Ala)
c.577-4059C>G (n.577-4059C>G)
c.314-4059C>G
c.1991G>C (p.Gly664Ala)
n.2207G>C
c.992G>C (p.Gly331Ala)
c.946-139006C>G (n.946-139006C>G)
6g.44302884C>TCA364337225AARS2,POLR1C,TMEM151Bc.2282G>A (p.Gly761Glu)
c.577-4059C>T (n.577-4059C>T)
c.314-4059C>T
c.1991G>A (p.Gly664Glu)
n.2207G>A
c.992G>A (p.Gly331Glu)
c.946-139006C>T (n.946-139006C>T)
 gnomAD v4
6g.44302885C>ACA364337227AARS2,POLR1C,TMEM151Bc.2281G>T (p.Gly761Trp)
c.577-4058C>A (n.577-4058C>A)
c.314-4058C>A
c.1990G>T (p.Gly664Trp)
n.2206G>T
c.991G>T (p.Gly331Trp)
c.946-139005C>A (n.946-139005C>A)
6g.44302885C>GCA364337229AARS2,POLR1C,TMEM151Bc.2281G>C (p.Gly761Arg)
c.577-4058C>G (n.577-4058C>G)
c.314-4058C>G
c.1990G>C (p.Gly664Arg)
n.2206G>C
c.991G>C (p.Gly331Arg)
c.946-139005C>G (n.946-139005C>G)
6g.44302885C>TCA364337228AARS2,POLR1C,TMEM151Bc.2281G>A (p.Gly761Arg)
c.577-4058C>T (n.577-4058C>T)
c.314-4058C>T
c.1990G>A (p.Gly664Arg)
n.2206G>A
c.991G>A (p.Gly331Arg)
c.946-139005C>T (n.946-139005C>T)
6g.44302886T>ACA450390838AARS2,POLR1C,TMEM151Bc.2280A>T (p.Val760=)
c.577-4057T>A (n.577-4057T>A)
c.314-4057T>A
c.1989A>T (p.Val663=)
n.2205A>T
c.990A>T (p.Val330=)
c.946-139004T>A (n.946-139004T>A)
6g.44302886T>CCA450390839AARS2,POLR1C,TMEM151Bc.2280A>G (p.Val760=)
c.577-4057T>C (n.577-4057T>C)
c.314-4057T>C
c.1989A>G (p.Val663=)
n.2205A>G
c.990A>G (p.Val330=)
c.946-139004T>C (n.946-139004T>C)
6g.44302886T>GCA450390840AARS2,POLR1C,TMEM151Bc.2280A>C (p.Val760=)
c.577-4057T>G (n.577-4057T>G)
c.314-4057T>G
c.1989A>C (p.Val663=)
n.2205A>C
c.990A>C (p.Val330=)
c.946-139004T>G (n.946-139004T>G)
6g.44302887A>CCA364337230AARS2,POLR1C,TMEM151Bc.2279T>G (p.Val760Gly)
c.577-4056A>C (n.577-4056A>C)
c.314-4056A>C
c.1988T>G (p.Val663Gly)
n.2204T>G
c.989T>G (p.Val330Gly)
c.946-139003A>C (n.946-139003A>C)
6g.44302887A>GCA364337232AARS2,POLR1C,TMEM151Bc.2279T>C (p.Val760Ala)
c.577-4056A>G (n.577-4056A>G)
c.314-4056A>G
c.1988T>C (p.Val663Ala)
n.2204T>C
c.989T>C (p.Val330Ala)
c.946-139003A>G (n.946-139003A>G)
 gnomAD v4
6g.44302887A>TCA364337231AARS2,POLR1C,TMEM151Bc.2279T>A (p.Val760Glu)
c.577-4056A>T (n.577-4056A>T)
c.314-4056A>T
c.1988T>A (p.Val663Glu)
n.2204T>A
c.989T>A (p.Val330Glu)
c.946-139003A>T (n.946-139003A>T)
6g.44302891_44302906delCA2578633165AARS2,POLR1C,TMEM151Bc.2264_2279del (p.Leu755Ter)
c.577-4052_577-4037del (n.577-4052_577-4037del)
c.314-4052_314-4037del
c.1973_1988del (p.Leu658Ter)
n.2189_2204del
c.974_989del (p.Leu325Ter)
c.946-138999_946-138984del (n.946-138999_946-138984del)
6g.44302888C>ACA3834033AARS2,POLR1C,TMEM151Bc.2278G>T (p.Val760Leu)
c.577-4055C>A (n.577-4055C>A)
c.314-4055C>A
c.1987G>T (p.Val663Leu)
n.2203G>T
c.988G>T (p.Val330Leu)
c.946-139002C>A (n.946-139002C>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302888C=CA1624923729AARS2,POLR1C,TMEM151Bc.2278G= (p.Val760=)
c.577-4055C= (n.577-4055C=)
c.314-4055C=
c.1987G= (p.Val663=)
n.2203G=
c.988G= (p.Val330=)
c.946-139002C= (n.946-139002C=)
6g.44302888C>GCA364337233AARS2,POLR1C,TMEM151Bc.2278G>C (p.Val760Leu)
c.577-4055C>G (n.577-4055C>G)
c.314-4055C>G
c.1987G>C (p.Val663Leu)
n.2203G>C
c.988G>C (p.Val330Leu)
c.946-139002C>G (n.946-139002C>G)
6g.44302888C>TCA364337234AARS2,POLR1C,TMEM151Bc.2278G>A (p.Val760Ile)
c.577-4055C>T (n.577-4055C>T)
c.314-4055C>T
c.1987G>A (p.Val663Ile)
n.2203G>A
c.988G>A (p.Val330Ile)
c.946-139002C>T (n.946-139002C>T)
 dbSNP gnomAD v3 gnomAD v4
6g.44302889A>CCA450390842AARS2,POLR1C,TMEM151Bc.2277T>G (p.Ala759=)
c.577-4054A>C (n.577-4054A>C)
c.314-4054A>C
c.1986T>G (p.Ala662=)
n.2202T>G
c.987T>G (p.Ala329=)
c.946-139001A>C (n.946-139001A>C)
6g.44302889A>GCA450390845AARS2,POLR1C,TMEM151Bc.2277T>C (p.Ala759=)
c.577-4054A>G (n.577-4054A>G)
c.314-4054A>G
c.1986T>C (p.Ala662=)
n.2202T>C
c.987T>C (p.Ala329=)
c.946-139001A>G (n.946-139001A>G)
6g.44302889A>TCA450390844AARS2,POLR1C,TMEM151Bc.2277T>A (p.Ala759=)
c.577-4054A>T (n.577-4054A>T)
c.314-4054A>T
c.1986T>A (p.Ala662=)
n.2202T>A
c.987T>A (p.Ala329=)
c.946-139001A>T (n.946-139001A>T)
6g.44302890G>ACA364337235AARS2,POLR1C,TMEM151Bc.2276C>T (p.Ala759Val)
c.577-4053G>A (n.577-4053G>A)
c.314-4053G>A
c.1985C>T (p.Ala662Val)
n.2201C>T
c.986C>T (p.Ala329Val)
c.946-139000G>A (n.946-139000G>A)
 dbSNP gnomAD v4
6g.44302890G>CCA364337236AARS2,POLR1C,TMEM151Bc.2276C>G (p.Ala759Gly)
c.577-4053G>C (n.577-4053G>C)
c.314-4053G>C
c.1985C>G (p.Ala662Gly)
n.2201C>G
c.986C>G (p.Ala329Gly)
c.946-139000G>C (n.946-139000G>C)
6g.44302890G=CA1624923733AARS2,POLR1C,TMEM151Bc.2276C= (p.Ala759=)
c.577-4053G= (n.577-4053G=)
c.314-4053G=
c.1985C= (p.Ala662=)
n.2201C=
c.986C= (p.Ala329=)
c.946-139000G= (n.946-139000G=)
6g.44302890G>TCA364337237AARS2,POLR1C,TMEM151Bc.2276C>A (p.Ala759Asp)
c.577-4053G>T (n.577-4053G>T)
c.314-4053G>T
c.1985C>A (p.Ala662Asp)
n.2201C>A
c.986C>A (p.Ala329Asp)
c.946-139000G>T (n.946-139000G>T)
6g.44302891C>ACA364337238AARS2,POLR1C,TMEM151Bc.2275G>T (p.Ala759Ser)
c.577-4052C>A (n.577-4052C>A)
c.314-4052C>A
c.1984G>T (p.Ala662Ser)
n.2200G>T
c.985G>T (p.Ala329Ser)
c.946-138999C>A (n.946-138999C>A)
6g.44302891C>GCA364337239AARS2,POLR1C,TMEM151Bc.2275G>C (p.Ala759Pro)
c.577-4052C>G (n.577-4052C>G)
c.314-4052C>G
c.1984G>C (p.Ala662Pro)
n.2200G>C
c.985G>C (p.Ala329Pro)
c.946-138999C>G (n.946-138999C>G)
6g.44302891C>TCA364337240AARS2,POLR1C,TMEM151Bc.2275G>A (p.Ala759Thr)
c.577-4052C>T (n.577-4052C>T)
c.314-4052C>T
c.1984G>A (p.Ala662Thr)
n.2200G>A
c.985G>A (p.Ala329Thr)
c.946-138999C>T (n.946-138999C>T)
 gnomAD v4
6g.44302892C>ACA450390846AARS2,POLR1C,TMEM151Bc.2274G>T (p.Gly758=)
c.577-4051C>A (n.577-4051C>A)
c.314-4051C>A
c.1983G>T (p.Gly661=)
n.2199G>T
c.984G>T (p.Gly328=)
c.946-138998C>A (n.946-138998C>A)
 gnomAD v4
6g.44302892C>GCA450390847AARS2,POLR1C,TMEM151Bc.2274G>C (p.Gly758=)
c.577-4051C>G (n.577-4051C>G)
c.314-4051C>G
c.1983G>C (p.Gly661=)
n.2199G>C
c.984G>C (p.Gly328=)
c.946-138998C>G (n.946-138998C>G)
6g.44302892C>TCA450390848AARS2,POLR1C,TMEM151Bc.2274G>A (p.Gly758=)
c.577-4051C>T (n.577-4051C>T)
c.314-4051C>T
c.1983G>A (p.Gly661=)
n.2199G>A
c.984G>A (p.Gly328=)
c.946-138998C>T (n.946-138998C>T)
6g.44302893C>ACA364337241AARS2,POLR1C,TMEM151Bc.2273G>T (p.Gly758Val)
c.577-4050C>A (n.577-4050C>A)
c.314-4050C>A
c.1982G>T (p.Gly661Val)
n.2198G>T
c.983G>T (p.Gly328Val)
c.946-138997C>A (n.946-138997C>A)
6g.44302893C>GCA364337242AARS2,POLR1C,TMEM151Bc.2273G>C (p.Gly758Ala)
c.577-4050C>G (n.577-4050C>G)
c.314-4050C>G
c.1982G>C (p.Gly661Ala)
n.2198G>C
c.983G>C (p.Gly328Ala)
c.946-138997C>G (n.946-138997C>G)
6g.44302893C>TCA364337243AARS2,POLR1C,TMEM151Bc.2273G>A (p.Gly758Glu)
c.577-4050C>T (n.577-4050C>T)
c.314-4050C>T
c.1982G>A (p.Gly661Glu)
n.2198G>A
c.983G>A (p.Gly328Glu)
c.946-138997C>T (n.946-138997C>T)
6g.44302894C>ACA364337245AARS2,POLR1C,TMEM151Bc.2272G>T (p.Gly758Trp)
c.577-4049C>A (n.577-4049C>A)
c.314-4049C>A
c.1981G>T (p.Gly661Trp)
n.2197G>T
c.982G>T (p.Gly328Trp)
c.946-138996C>A (n.946-138996C>A)
6g.44302894C=CA1624923737AARS2,POLR1C,TMEM151Bc.2272G= (p.Gly758=)
c.577-4049C= (n.577-4049C=)
c.314-4049C=
c.1981G= (p.Gly661=)
n.2197G=
c.982G= (p.Gly328=)
c.946-138996C= (n.946-138996C=)
6g.44302894C>GCA364337244AARS2,POLR1C,TMEM151Bc.2272G>C (p.Gly758Arg)
c.577-4049C>G (n.577-4049C>G)
c.314-4049C>G
c.1981G>C (p.Gly661Arg)
n.2197G>C
c.982G>C (p.Gly328Arg)
c.946-138996C>G (n.946-138996C>G)
6g.44302894C>TCA3834034AARS2,POLR1C,TMEM151Bc.2272G>A (p.Gly758Arg)
c.577-4049C>T (n.577-4049C>T)
c.314-4049C>T
c.1981G>A (p.Gly661Arg)
n.2197G>A
c.982G>A (p.Gly328Arg)
c.946-138996C>T (n.946-138996C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302895A>CCA450390850AARS2,POLR1C,TMEM151Bc.2271T>G (p.Thr757=)
c.577-4048A>C (n.577-4048A>C)
c.314-4048A>C
c.1980T>G (p.Thr660=)
n.2196T>G
c.981T>G (p.Thr327=)
c.946-138995A>C (n.946-138995A>C)
6g.44302895A>GCA450390851AARS2,POLR1C,TMEM151Bc.2271T>C (p.Thr757=)
c.577-4048A>G (n.577-4048A>G)
c.314-4048A>G
c.1980T>C (p.Thr660=)
n.2196T>C
c.981T>C (p.Thr327=)
c.946-138995A>G (n.946-138995A>G)
6g.44302895A>TCA450390852AARS2,POLR1C,TMEM151Bc.2271T>A (p.Thr757=)
c.577-4048A>T (n.577-4048A>T)
c.314-4048A>T
c.1980T>A (p.Thr660=)
n.2196T>A
c.981T>A (p.Thr327=)
c.946-138995A>T (n.946-138995A>T)
6g.44302896G>ACA3834035AARS2,POLR1C,TMEM151Bc.2270C>T (p.Thr757Ile)
c.577-4047G>A (n.577-4047G>A)
c.314-4047G>A
c.1979C>T (p.Thr660Ile)
n.2195C>T
c.980C>T (p.Thr327Ile)
c.946-138994G>A (n.946-138994G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302896G>CCA364337246AARS2,POLR1C,TMEM151Bc.2270C>G (p.Thr757Ser)
c.577-4047G>C (n.577-4047G>C)
c.314-4047G>C
c.1979C>G (p.Thr660Ser)
n.2195C>G
c.980C>G (p.Thr327Ser)
c.946-138994G>C (n.946-138994G>C)
 gnomAD v4
6g.44302896G=CA1624923740AARS2,POLR1C,TMEM151Bc.2270C= (p.Thr757=)
c.577-4047G= (n.577-4047G=)
c.314-4047G=
c.1979C= (p.Thr660=)
n.2195C=
c.980C= (p.Thr327=)
c.946-138994G= (n.946-138994G=)
6g.44302896G>TCA364337247AARS2,POLR1C,TMEM151Bc.2270C>A (p.Thr757Asn)
c.577-4047G>T (n.577-4047G>T)
c.314-4047G>T
c.1979C>A (p.Thr660Asn)
n.2195C>A
c.980C>A (p.Thr327Asn)
c.946-138994G>T (n.946-138994G>T)
6g.44302897T>ACA364337248AARS2,POLR1C,TMEM151Bc.2269A>T (p.Thr757Ser)
c.577-4046T>A (n.577-4046T>A)
c.314-4046T>A
c.1978A>T (p.Thr660Ser)
n.2194A>T
c.979A>T (p.Thr327Ser)
c.946-138993T>A (n.946-138993T>A)
 COSMIC
6g.44302897T>CCA364337249AARS2,POLR1C,TMEM151Bc.2269A>G (p.Thr757Ala)
c.577-4046T>C (n.577-4046T>C)
c.314-4046T>C
c.1978A>G (p.Thr660Ala)
n.2194A>G
c.979A>G (p.Thr327Ala)
c.946-138993T>C (n.946-138993T>C)
 dbSNP gnomAD v4
6g.44302897T>GCA364337250AARS2,POLR1C,TMEM151Bc.2269A>C (p.Thr757Pro)
c.577-4046T>G (n.577-4046T>G)
c.314-4046T>G
c.1978A>C (p.Thr660Pro)
n.2194A>C
c.979A>C (p.Thr327Pro)
c.946-138993T>G (n.946-138993T>G)
6g.44302897T=CA1624923743AARS2,POLR1C,TMEM151Bc.2269A= (p.Thr757=)
c.577-4046T= (n.577-4046T=)
c.314-4046T=
c.1978A= (p.Thr660=)
n.2194A=
c.979A= (p.Thr327=)
c.946-138993T= (n.946-138993T=)
6g.44302898A>CCA450390858AARS2,POLR1C,TMEM151Bc.2268T>G (p.Arg756=)
c.577-4045A>C (n.577-4045A>C)
c.314-4045A>C
c.1977T>G (p.Arg659=)
n.2193T>G
c.978T>G (p.Arg326=)
c.946-138992A>C (n.946-138992A>C)
6g.44302898A>GCA450390856AARS2,POLR1C,TMEM151Bc.2268T>C (p.Arg756=)
c.577-4045A>G (n.577-4045A>G)
c.314-4045A>G
c.1977T>C (p.Arg659=)
n.2193T>C
c.978T>C (p.Arg326=)
c.946-138992A>G (n.946-138992A>G)
6g.44302898A>TCA450390857AARS2,POLR1C,TMEM151Bc.2268T>A (p.Arg756=)
c.577-4045A>T (n.577-4045A>T)
c.314-4045A>T
c.1977T>A (p.Arg659=)
n.2193T>A
c.978T>A (p.Arg326=)
c.946-138992A>T (n.946-138992A>T)
6g.44302899C>ACA364337251AARS2,POLR1C,TMEM151Bc.2267G>T (p.Arg756Leu)
c.577-4044C>A (n.577-4044C>A)
c.314-4044C>A
c.1976G>T (p.Arg659Leu)
n.2192G>T
c.977G>T (p.Arg326Leu)
c.946-138991C>A (n.946-138991C>A)
6g.44302899C=CA1624923747AARS2,POLR1C,TMEM151Bc.2267G= (p.Arg756=)
c.577-4044C= (n.577-4044C=)
c.314-4044C=
c.1976G= (p.Arg659=)
n.2192G=
c.977G= (p.Arg326=)
c.946-138991C= (n.946-138991C=)
6g.44302899C>GCA364337252AARS2,POLR1C,TMEM151Bc.2267G>C (p.Arg756Pro)
c.577-4044C>G (n.577-4044C>G)
c.314-4044C>G
c.1976G>C (p.Arg659Pro)
n.2192G>C
c.977G>C (p.Arg326Pro)
c.946-138991C>G (n.946-138991C>G)
 dbSNP
6g.44302899C>TCA3834036AARS2,POLR1C,TMEM151Bc.2267G>A (p.Arg756His)
c.577-4044C>T (n.577-4044C>T)
c.314-4044C>T
c.1976G>A (p.Arg659His)
n.2192G>A
c.977G>A (p.Arg326His)
c.946-138991C>T (n.946-138991C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302900G>ACA3834037AARS2,POLR1C,TMEM151Bc.2266C>T (p.Arg756Cys)
c.577-4043G>A (n.577-4043G>A)
c.314-4043G>A
c.1975C>T (p.Arg659Cys)
n.2191C>T
c.976C>T (p.Arg326Cys)
c.946-138990G>A (n.946-138990G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.44302900G>CCA364337253AARS2,POLR1C,TMEM151Bc.2266C>G (p.Arg756Gly)
c.577-4043G>C (n.577-4043G>C)
c.314-4043G>C
c.1975C>G (p.Arg659Gly)
n.2191C>G
c.976C>G (p.Arg326Gly)
c.946-138990G>C (n.946-138990G>C)
6g.44302900G=CA1624923753AARS2,POLR1C,TMEM151Bc.2266C= (p.Arg756=)
c.577-4043G= (n.577-4043G=)
c.314-4043G=
c.1975C= (p.Arg659=)
n.2191C=
c.976C= (p.Arg326=)
c.946-138990G= (n.946-138990G=)
6g.44302900G>TCA364337254AARS2,POLR1C,TMEM151Bc.2266C>A (p.Arg756Ser)
c.577-4043G>T (n.577-4043G>T)
c.314-4043G>T
c.1975C>A (p.Arg659Ser)
n.2191C>A
c.976C>A (p.Arg326Ser)
c.946-138990G>T (n.946-138990G>T)
6g.44302901T>ACA364337255AARS2,POLR1C,TMEM151Bc.2265A>T (p.Leu755Phe)
c.577-4042T>A (n.577-4042T>A)
c.314-4042T>A
c.1974A>T (p.Leu658Phe)
n.2190A>T
c.975A>T (p.Leu325Phe)
c.946-138989T>A (n.946-138989T>A)
6g.44302901T>CCA450390862AARS2,POLR1C,TMEM151Bc.2265A>G (p.Leu755=)
c.577-4042T>C (n.577-4042T>C)
c.314-4042T>C
c.1974A>G (p.Leu658=)
n.2190A>G
c.975A>G (p.Leu325=)
c.946-138989T>C (n.946-138989T>C)
6g.44302901T>GCA364337256AARS2,POLR1C,TMEM151Bc.2265A>C (p.Leu755Phe)
c.577-4042T>G (n.577-4042T>G)
c.314-4042T>G
c.1974A>C (p.Leu658Phe)
n.2190A>C
c.975A>C (p.Leu325Phe)
c.946-138989T>G (n.946-138989T>G)
6g.44302901dupCA2573052694AARS2,POLR1C,TMEM151Bc.2265dup (p.Arg756ThrfsTer?)
c.577-4042dup (n.577-4042dup)
c.314-4042dup
c.1974dup (p.Arg659ThrfsTer?)
n.2190dup
c.975dup (p.Arg326ThrfsTer?)
c.946-138989dup (n.946-138989dup)
 dbSNP gnomAD v4
6g.44302902A>CCA364337257AARS2,POLR1C,TMEM151Bc.2264T>G (p.Leu755Ter)
c.577-4041A>C (n.577-4041A>C)
c.314-4041A>C
c.1973T>G (p.Leu658Ter)
n.2189T>G
c.974T>G (p.Leu325Ter)
c.946-138988A>C (n.946-138988A>C)
6g.44302902A>GCA364337258AARS2,POLR1C,TMEM151Bc.2264T>C (p.Leu755Ser)
c.577-4041A>G (n.577-4041A>G)
c.314-4041A>G
c.1973T>C (p.Leu658Ser)
n.2189T>C
c.974T>C (p.Leu325Ser)
c.946-138988A>G (n.946-138988A>G)
6g.44302902A>TCA364337259AARS2,POLR1C,TMEM151Bc.2264T>A (p.Leu755Ter)
c.577-4041A>T (n.577-4041A>T)
c.314-4041A>T
c.1973T>A (p.Leu658Ter)
n.2189T>A
c.974T>A (p.Leu325Ter)
c.946-138988A>T (n.946-138988A>T)
6g.44302903A>CCA364337260AARS2,POLR1C,TMEM151Bc.2263T>G (p.Leu755Val)
c.577-4040A>C (n.577-4040A>C)
c.314-4040A>C
c.1972T>G (p.Leu658Val)
n.2188T>G
c.973T>G (p.Leu325Val)
c.946-138987A>C (n.946-138987A>C)
6g.44302903A>GCA450390865AARS2,POLR1C,TMEM151Bc.2263T>C (p.Leu755=)
c.577-4040A>G (n.577-4040A>G)
c.314-4040A>G
c.1972T>C (p.Leu658=)
n.2188T>C
c.973T>C (p.Leu325=)
c.946-138987A>G (n.946-138987A>G)
 gnomAD v4
6g.44302903A>TCA364337261AARS2,POLR1C,TMEM151Bc.2263T>A (p.Leu755Ile)
c.577-4040A>T (n.577-4040A>T)
c.314-4040A>T
c.1972T>A (p.Leu658Ile)
n.2188T>A
c.973T>A (p.Leu325Ile)
c.946-138987A>T (n.946-138987A>T)
6g.44302904C>ACA450390866AARS2,POLR1C,TMEM151Bc.2262G>T (p.Leu754=)
c.577-4039C>A (n.577-4039C>A)
c.314-4039C>A
c.1971G>T (p.Leu657=)
n.2187G>T
c.972G>T (p.Leu324=)
c.946-138986C>A (n.946-138986C>A)
6g.44302904C>GCA450390868AARS2,POLR1C,TMEM151Bc.2262G>C (p.Leu754=)
c.577-4039C>G (n.577-4039C>G)
c.314-4039C>G
c.1971G>C (p.Leu657=)
n.2187G>C
c.972G>C (p.Leu324=)
c.946-138986C>G (n.946-138986C>G)
6g.44302904C>TCA450390867AARS2,POLR1C,TMEM151Bc.2262G>A (p.Leu754=)
c.577-4039C>T (n.577-4039C>T)
c.314-4039C>T
c.1971G>A (p.Leu657=)
n.2187G>A
c.972G>A (p.Leu324=)
c.946-138986C>T (n.946-138986C>T)
6g.44302905A=CA1624923756AARS2,POLR1C,TMEM151Bc.2261T= (p.Leu754=)
c.577-4038A= (n.577-4038A=)
c.314-4038A=
c.1970T= (p.Leu657=)
n.2186T=
c.971T= (p.Leu324=)
c.946-138985A= (n.946-138985A=)
6g.44302905A>CCA364337262AARS2,POLR1C,TMEM151Bc.2261T>G (p.Leu754Arg)
c.577-4038A>C (n.577-4038A>C)
c.314-4038A>C
c.1970T>G (p.Leu657Arg)
n.2186T>G
c.971T>G (p.Leu324Arg)
c.946-138985A>C (n.946-138985A>C)
 dbSNP gnomAD v2 gnomAD v4
6g.44302905A>GCA364337263AARS2,POLR1C,TMEM151Bc.2261T>C (p.Leu754Pro)
c.577-4038A>G (n.577-4038A>G)
c.314-4038A>G
c.1970T>C (p.Leu657Pro)
n.2186T>C
c.971T>C (p.Leu324Pro)
c.946-138985A>G (n.946-138985A>G)
6g.44302905A>TCA364337264AARS2,POLR1C,TMEM151Bc.2261T>A (p.Leu754Gln)
c.577-4038A>T (n.577-4038A>T)
c.314-4038A>T
c.1970T>A (p.Leu657Gln)
n.2186T>A
c.971T>A (p.Leu324Gln)
c.946-138985A>T (n.946-138985A>T)
6g.44302906G>ACA450390869AARS2,POLR1C,TMEM151Bc.2260C>T (p.Leu754=)
c.577-4037G>A (n.577-4037G>A)
c.314-4037G>A
c.1969C>T (p.Leu657=)
n.2185C>T
c.970C>T (p.Leu324=)
c.946-138984G>A (n.946-138984G>A)
 dbSNP gnomAD v2
6g.44302906G>CCA364337265AARS2,POLR1C,TMEM151Bc.2260C>G (p.Leu754Val)
c.577-4037G>C (n.577-4037G>C)
c.314-4037G>C
c.1969C>G (p.Leu657Val)
n.2185C>G
c.970C>G (p.Leu324Val)
c.946-138984G>C (n.946-138984G>C)
6g.44302906G=CA1624923758AARS2,POLR1C,TMEM151Bc.2260C= (p.Leu754=)
c.577-4037G= (n.577-4037G=)
c.314-4037G=
c.1969C= (p.Leu657=)
n.2185C=
c.970C= (p.Leu324=)
c.946-138984G= (n.946-138984G=)
6g.44302906G>TCA364337266AARS2,POLR1C,TMEM151Bc.2260C>A (p.Leu754Met)
c.577-4037G>T (n.577-4037G>T)
c.314-4037G>T
c.1969C>A (p.Leu657Met)
n.2185C>A
c.970C>A (p.Leu324Met)
c.946-138984G>T (n.946-138984G>T)
6g.44302907G>ACA450390871AARS2,POLR1C,TMEM151Bc.2259C>T (p.His753=)
c.577-4036G>A (n.577-4036G>A)
c.314-4036G>A
c.1968C>T (p.His656=)
n.2184C>T
c.969C>T (p.His323=)
c.946-138983G>A (n.946-138983G>A)
 gnomAD v4
6g.44302907G>CCA364337267AARS2,POLR1C,TMEM151Bc.2259C>G (p.His753Gln)
c.577-4036G>C (n.577-4036G>C)
c.314-4036G>C
c.1968C>G (p.His656Gln)
n.2184C>G
c.969C>G (p.His323Gln)
c.946-138983G>C (n.946-138983G>C)
6g.44302907G>TCA364337268AARS2,POLR1C,TMEM151Bc.2259C>A (p.His753Gln)
c.577-4036G>T (n.577-4036G>T)
c.314-4036G>T
c.1968C>A (p.His656Gln)
n.2184C>A
c.969C>A (p.His323Gln)
c.946-138983G>T (n.946-138983G>T)
6g.44302908T>ACA364337271AARS2,POLR1C,TMEM151Bc.2258A>T (p.His753Leu)
c.577-4035T>A (n.577-4035T>A)
c.314-4035T>A
c.1967A>T (p.His656Leu)
n.2183A>T
c.968A>T (p.His323Leu)
c.946-138982T>A (n.946-138982T>A)
6g.44302908T>CCA364337270AARS2,POLR1C,TMEM151Bc.2258A>G (p.His753Arg)
c.577-4035T>C (n.577-4035T>C)
c.314-4035T>C
c.1967A>G (p.His656Arg)
n.2183A>G
c.968A>G (p.His323Arg)
c.946-138982T>C (n.946-138982T>C)
6g.44302908T>GCA364337269AARS2,POLR1C,TMEM151Bc.2258A>C (p.His753Pro)
c.577-4035T>G (n.577-4035T>G)
c.314-4035T>G
c.1967A>C (p.His656Pro)
n.2183A>C
c.968A>C (p.His323Pro)
c.946-138982T>G (n.946-138982T>G)
6g.44302909G>ACA364337272AARS2,POLR1C,TMEM151Bc.2257C>T (p.His753Tyr)
c.577-4034G>A (n.577-4034G>A)
c.314-4034G>A
c.1966C>T (p.His656Tyr)
n.2182C>T
c.967C>T (p.His323Tyr)
c.946-138981G>A (n.946-138981G>A)
 gnomAD v4
6g.44302909G>CCA364337273AARS2,POLR1C,TMEM151Bc.2257C>G (p.His753Asp)
c.577-4034G>C (n.577-4034G>C)
c.314-4034G>C
c.1966C>G (p.His656Asp)
n.2182C>G
c.967C>G (p.His323Asp)
c.946-138981G>C (n.946-138981G>C)
6g.44302909G>TCA364337274AARS2,POLR1C,TMEM151Bc.2257C>A (p.His753Asn)
c.577-4034G>T (n.577-4034G>T)
c.314-4034G>T
c.1966C>A (p.His656Asn)
n.2182C>A
c.967C>A (p.His323Asn)
c.946-138981G>T (n.946-138981G>T)
6g.44302909_44302913dupCA2678953254AARS2,POLR1C,TMEM151Bc.2256-3_2257dup
c.577-4034_577-4030dup (n.577-4034_577-4030dup)
c.314-4034_314-4030dup
c.1965-3_1966dup
n.2181-3_2182dup
c.966-3_967dup
c.946-138981_946-138977dup (n.946-138981_946-138977dup)
 gnomAD v4
6g.44302910C>ACA450390875AARS2,POLR1C,TMEM151Bc.2256G>T (p.Thr752=)
c.577-4033C>A (n.577-4033C>A)
c.314-4033C>A
c.1965G>T (p.Thr655=)
n.2181G>T
c.966G>T (p.Thr322=)
c.946-138980C>A (n.946-138980C>A)
 dbSNP gnomAD v2
6g.44302910C=CA1624923761AARS2,POLR1C,TMEM151Bc.2256G= (p.Thr752=)
c.577-4033C= (n.577-4033C=)
c.314-4033C=
c.1965G= (p.Thr655=)
n.2181G=
c.966G= (p.Thr322=)
c.946-138980C= (n.946-138980C=)
6g.44302910C>GCA450390876AARS2,POLR1C,TMEM151Bc.2256G>C (p.Thr752=)
c.577-4033C>G (n.577-4033C>G)
c.314-4033C>G
c.1965G>C (p.Thr655=)
n.2181G>C
c.966G>C (p.Thr322=)
c.946-138980C>G (n.946-138980C>G)
6g.44302910C>TCA450390877AARS2,POLR1C,TMEM151Bc.2256G>A (p.Thr752=)
c.577-4033C>T (n.577-4033C>T)
c.314-4033C>T
c.1965G>A (p.Thr655=)
n.2181G>A
c.966G>A (p.Thr322=)
c.946-138980C>T (n.946-138980C>T)
 gnomAD v4
6g.44302911C>ACA364337275AARS2,POLR1C,TMEM151Bc.2256-1G>T (n.2256-1G>T)
c.577-4032C>A (n.577-4032C>A)
c.314-4032C>A
c.1965-1G>T (n.1965-1G>T)
n.2181-1G>T
c.966-1G>T (n.966-1G>T)
c.946-138979C>A (n.946-138979C>A)
6g.44302911C>GCA364337276AARS2,POLR1C,TMEM151Bc.2256-1G>C (n.2256-1G>C)
c.577-4032C>G (n.577-4032C>G)
c.314-4032C>G
c.1965-1G>C (n.1965-1G>C)
n.2181-1G>C
c.966-1G>C (n.966-1G>C)
c.946-138979C>G (n.946-138979C>G)
6g.44302911C>TCA364337277AARS2,POLR1C,TMEM151Bc.2256-1G>A (n.2256-1G>A)
c.577-4032C>T (n.577-4032C>T)
c.314-4032C>T
c.1965-1G>A (n.1965-1G>A)
n.2181-1G>A
c.966-1G>A (n.966-1G>A)
c.946-138979C>T (n.946-138979C>T)
6g.44302912T>ACA364337278AARS2,POLR1C,TMEM151Bc.2256-2A>T (n.2256-2A>T)
c.577-4031T>A (n.577-4031T>A)
c.314-4031T>A
c.1965-2A>T (n.1965-2A>T)
n.2181-2A>T
c.966-2A>T (n.966-2A>T)
c.946-138978T>A (n.946-138978T>A)
6g.44302912T>CCA364337279AARS2,POLR1C,TMEM151Bc.2256-2A>G (n.2256-2A>G)
c.577-4031T>C (n.577-4031T>C)
c.314-4031T>C
c.1965-2A>G (n.1965-2A>G)
n.2181-2A>G
c.966-2A>G (n.966-2A>G)
c.946-138978T>C (n.946-138978T>C)
 ClinVar dbSNP gnomAD v4
6g.44302912T>GCA364337280AARS2,POLR1C,TMEM151Bc.2256-2A>C (n.2256-2A>C)
c.577-4031T>G (n.577-4031T>G)
c.314-4031T>G
c.1965-2A>C (n.1965-2A>C)
n.2181-2A>C
c.966-2A>C (n.966-2A>C)
c.946-138978T>G (n.946-138978T>G)
6g.44302913G>ACA567154491AARS2,POLR1C,TMEM151Bc.2256-3C>T (n.2256-3C>T)
c.577-4030G>A (n.577-4030G>A)
c.314-4030G>A
c.1965-3C>T (n.1965-3C>T)
n.2181-3C>T
c.966-3C>T (n.966-3C>T)
c.946-138977G>A (n.946-138977G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44302913G=CA1624923764AARS2,POLR1C,TMEM151Bc.2256-3C= (n.2256-3C=)
c.577-4030G= (n.577-4030G=)
c.314-4030G=
c.1965-3C= (n.1965-3C=)
n.2181-3C=
c.966-3C= (n.966-3C=)
c.946-138977G= (n.946-138977G=)
6g.44302917G>ACA138385513AARS2,POLR1C,TMEM151Bc.2256-7C>T (n.2256-7C>T)
c.577-4026G>A (n.577-4026G>A)
c.314-4026G>A
c.1965-7C>T (n.1965-7C>T)
n.2181-7C>T
c.966-7C>T (n.966-7C>T)
c.946-138973G>A (n.946-138973G>A)
 dbSNP gnomAD v3 gnomAD v4
6g.44302917G=CA1624923769AARS2,POLR1C,TMEM151Bc.2256-7C= (n.2256-7C=)
c.577-4026G= (n.577-4026G=)
c.314-4026G=
c.1965-7C= (n.1965-7C=)
n.2181-7C=
c.966-7C= (n.966-7C=)
c.946-138973G= (n.946-138973G=)
6g.44302919G>ACA567154493AARS2,POLR1C,TMEM151Bc.2256-9C>T (n.2256-9C>T)
c.577-4024G>A (n.577-4024G>A)
c.314-4024G>A
c.1965-9C>T (n.1965-9C>T)
n.2181-9C>T
c.966-9C>T (n.966-9C>T)
c.946-138971G>A (n.946-138971G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.44302919G>CCA1624923772AARS2,POLR1C,TMEM151Bc.2256-9C>G (n.2256-9C>G)
c.577-4024G>C (n.577-4024G>C)
c.314-4024G>C
c.1965-9C>G (n.1965-9C>G)
n.2181-9C>G
c.966-9C>G (n.966-9C>G)
c.946-138971G>C (n.946-138971G>C)
 dbSNP gnomAD v4
6g.44302919G=CA1624923770AARS2,POLR1C,TMEM151Bc.2256-9C= (n.2256-9C=)
c.577-4024G= (n.577-4024G=)
c.314-4024G=
c.1965-9C= (n.1965-9C=)
n.2181-9C=
c.966-9C= (n.966-9C=)
c.946-138971G= (n.946-138971G=)
6g.44302920G>ACA3834038AARS2,POLR1C,TMEM151Bc.2256-10C>T (n.2256-10C>T)
c.577-4023G>A (n.577-4023G>A)
c.314-4023G>A
c.1965-10C>T (n.1965-10C>T)
n.2181-10C>T
c.966-10C>T (n.966-10C>T)
c.946-138970G>A (n.946-138970G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.44302920G>CCA1624923775AARS2,POLR1C,TMEM151Bc.2256-10C>G (n.2256-10C>G)
c.577-4023G>C (n.577-4023G>C)
c.314-4023G>C
c.1965-10C>G (n.1965-10C>G)
n.2181-10C>G
c.966-10C>G (n.966-10C>G)
c.946-138970G>C (n.946-138970G>C)
 dbSNP gnomAD v4
6g.44302920G=CA1624923773AARS2,POLR1C,TMEM151Bc.2256-10C= (n.2256-10C=)
c.577-4023G= (n.577-4023G=)
c.314-4023G=
c.1965-10C= (n.1965-10C=)
n.2181-10C=
c.966-10C= (n.966-10C=)
c.946-138970G= (n.946-138970G=)

Number of alleles fetched