Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.86030144C>ACA51365506POLR1Ac.4779+52G>T (n.4779+52G>T)
c.4596+52G>T (n.4596+52G>T)
c.4455+52G>T (n.4455+52G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.86030144C=CA1267041248POLR1Ac.4779+52G= (n.4779+52G=)
c.4596+52G= (n.4596+52G=)
c.4455+52G= (n.4455+52G=)
2g.86030144C>TCA51365513POLR1Ac.4779+52G>A (n.4779+52G>A)
c.4596+52G>A (n.4596+52G>A)
c.4455+52G>A (n.4455+52G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030145G>ACA1745396POLR1Ac.4779+51C>T (n.4779+51C>T)
c.4596+51C>T (n.4596+51C>T)
c.4455+51C>T (n.4455+51C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030145G=CA1267041249POLR1Ac.4779+51C= (n.4779+51C=)
c.4596+51C= (n.4596+51C=)
c.4455+51C= (n.4455+51C=)
2g.86030145G>TCA2659905112POLR1Ac.4779+51C>A (n.4779+51C>A)
c.4596+51C>A (n.4596+51C>A)
c.4455+51C>A (n.4455+51C>A)
 gnomAD v4
2g.86030146T>GCA2659905116POLR1Ac.4779+50A>C (n.4779+50A>C)
c.4596+50A>C (n.4596+50A>C)
c.4455+50A>C (n.4455+50A>C)
 gnomAD v4
2g.86030147G>ACA1745397POLR1Ac.4779+49C>T (n.4779+49C>T)
c.4596+49C>T (n.4596+49C>T)
c.4455+49C>T (n.4455+49C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030147G>CCA534230459POLR1Ac.4779+49C>G (n.4779+49C>G)
c.4596+49C>G (n.4596+49C>G)
c.4455+49C>G (n.4455+49C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.86030147G=CA1267041250POLR1Ac.4779+49C= (n.4779+49C=)
c.4596+49C= (n.4596+49C=)
c.4455+49C= (n.4455+49C=)
2g.86030147G>TCA2577023191POLR1Ac.4779+49C>A (n.4779+49C>A)
c.4596+49C>A (n.4596+49C>A)
c.4455+49C>A (n.4455+49C>A)
 gnomAD v4
2g.86030148G>ACA1745398POLR1Ac.4779+48C>T (n.4779+48C>T)
c.4596+48C>T (n.4596+48C>T)
c.4455+48C>T (n.4455+48C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030148G=CA1267041251POLR1Ac.4779+48C= (n.4779+48C=)
c.4596+48C= (n.4596+48C=)
c.4455+48C= (n.4455+48C=)
2g.86030148G>TCA2577023192POLR1Ac.4779+48C>A (n.4779+48C>A)
c.4596+48C>A (n.4596+48C>A)
c.4455+48C>A (n.4455+48C>A)
 gnomAD v4
2g.86030149G>ACA1267041252POLR1Ac.4779+47C>T (n.4779+47C>T)
c.4596+47C>T (n.4596+47C>T)
c.4455+47C>T (n.4455+47C>T)
 dbSNP gnomAD v4
2g.86030149G>CCA51365556POLR1Ac.4779+47C>G (n.4779+47C>G)
c.4596+47C>G (n.4596+47C>G)
c.4455+47C>G (n.4455+47C>G)
 dbSNP
2g.86030149G=CA1267041253POLR1Ac.4779+47C= (n.4779+47C=)
c.4596+47C= (n.4596+47C=)
c.4455+47C= (n.4455+47C=)
2g.86030149G>TCA2659905118POLR1Ac.4779+47C>A (n.4779+47C>A)
c.4596+47C>A (n.4596+47C>A)
c.4455+47C>A (n.4455+47C>A)
 gnomAD v4
2g.86030150G>ACA2659905122POLR1Ac.4779+46C>T (n.4779+46C>T)
c.4596+46C>T (n.4596+46C>T)
c.4455+46C>T (n.4455+46C>T)
 gnomAD v4
2g.86030150G>CCA534230460POLR1Ac.4779+46C>G (n.4779+46C>G)
c.4596+46C>G (n.4596+46C>G)
c.4455+46C>G (n.4455+46C>G)
 dbSNP gnomAD v2 gnomAD v4
2g.86030150G=CA1267041254POLR1Ac.4779+46C= (n.4779+46C=)
c.4596+46C= (n.4596+46C=)
c.4455+46C= (n.4455+46C=)
2g.86030150G>TCA1745399POLR1Ac.4779+46C>A (n.4779+46C>A)
c.4596+46C>A (n.4596+46C>A)
c.4455+46C>A (n.4455+46C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030151_86030152delCA2577023193POLR1Ac.4779+45_4779+46del (n.4779+45_4779+46del)
c.4596+45_4596+46del (n.4596+45_4596+46del)
c.4455+45_4455+46del (n.4455+45_4455+46del)
2g.86030151T>GCA1267041256POLR1Ac.4779+45A>C (n.4779+45A>C)
c.4596+45A>C (n.4596+45A>C)
c.4455+45A>C (n.4455+45A>C)
 dbSNP
2g.86030151T=CA1267041255POLR1Ac.4779+45A= (n.4779+45A=)
c.4596+45A= (n.4596+45A=)
c.4455+45A= (n.4455+45A=)
2g.86030152G>ACA1033085439POLR1Ac.4779+44C>T (n.4779+44C>T)
c.4596+44C>T (n.4596+44C>T)
c.4455+44C>T (n.4455+44C>T)
 dbSNP gnomAD v3 gnomAD v4
2g.86030152G=CA1267041257POLR1Ac.4779+44C= (n.4779+44C=)
c.4596+44C= (n.4596+44C=)
c.4455+44C= (n.4455+44C=)
2g.86030152G>TCA1267041258POLR1Ac.4779+44C>A (n.4779+44C>A)
c.4596+44C>A (n.4596+44C>A)
c.4455+44C>A (n.4455+44C>A)
 dbSNP gnomAD v4
2g.86030153_86030154delinsAGCA1267041259POLR1Ac.4779+42_4779+43delinsCT (n.4779+42_4779+43delinsCT)
c.4596+42_4596+43delinsCT (n.4596+42_4596+43delinsCT)
c.4455+42_4455+43delinsCT (n.4455+42_4455+43delinsCT)
2g.86030154G>ACA1745400POLR1Ac.4779+42C>T (n.4779+42C>T)
c.4596+42C>T (n.4596+42C>T)
c.4455+42C>T (n.4455+42C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030154G=CA1267041260POLR1Ac.4779+42C= (n.4779+42C=)
c.4596+42C= (n.4596+42C=)
c.4455+42C= (n.4455+42C=)
2g.86030155delCA894038455POLR1Ac.4779+42del (n.4779+42del)
c.4596+42del (n.4596+42del)
c.4455+42del (n.4455+42del)
 dbSNP gnomAD v3 gnomAD v4
2g.86030157C>ACA2659905130POLR1Ac.4779+39G>T (n.4779+39G>T)
c.4596+39G>T (n.4596+39G>T)
c.4455+39G>T (n.4455+39G>T)
 gnomAD v4
2g.86030157C=CA1267041261POLR1Ac.4779+39G= (n.4779+39G=)
c.4596+39G= (n.4596+39G=)
c.4455+39G= (n.4455+39G=)
2g.86030157C>TCA1745401POLR1Ac.4779+39G>A (n.4779+39G>A)
c.4596+39G>A (n.4596+39G>A)
c.4455+39G>A (n.4455+39G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030158T>CCA1267041263POLR1Ac.4779+38A>G (n.4779+38A>G)
c.4596+38A>G (n.4596+38A>G)
c.4455+38A>G (n.4455+38A>G)
 dbSNP gnomAD v4
2g.86030158T=CA1267041262POLR1Ac.4779+38A= (n.4779+38A=)
c.4596+38A= (n.4596+38A=)
c.4455+38A= (n.4455+38A=)
2g.86030159A>TCA2577023194POLR1Ac.4779+37T>A (n.4779+37T>A)
c.4596+37T>A (n.4596+37T>A)
c.4455+37T>A (n.4455+37T>A)
2g.86030161T>ACA1267041265POLR1Ac.4779+35A>T (n.4779+35A>T)
c.4596+35A>T (n.4596+35A>T)
c.4455+35A>T (n.4455+35A>T)
 dbSNP
2g.86030161T>CCA1033085446POLR1Ac.4779+35A>G (n.4779+35A>G)
c.4596+35A>G (n.4596+35A>G)
c.4455+35A>G (n.4455+35A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.86030161T=CA1267041264POLR1Ac.4779+35A= (n.4779+35A=)
c.4596+35A= (n.4596+35A=)
c.4455+35A= (n.4455+35A=)
2g.86030162G>TCA2659905134POLR1Ac.4779+34C>A (n.4779+34C>A)
c.4596+34C>A (n.4596+34C>A)
c.4455+34C>A (n.4455+34C>A)
 gnomAD v4
2g.86030163C=CA1267041266POLR1Ac.4779+33G= (n.4779+33G=)
c.4596+33G= (n.4596+33G=)
c.4455+33G= (n.4455+33G=)
2g.86030163C>GCA1745402POLR1Ac.4779+33G>C (n.4779+33G>C)
c.4596+33G>C (n.4596+33G>C)
c.4455+33G>C (n.4455+33G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030163C>TCA1745403POLR1Ac.4779+33G>A (n.4779+33G>A)
c.4596+33G>A (n.4596+33G>A)
c.4455+33G>A (n.4455+33G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030164T>ACA1267041268POLR1Ac.4779+32A>T (n.4779+32A>T)
c.4596+32A>T (n.4596+32A>T)
c.4455+32A>T (n.4455+32A>T)
 dbSNP
2g.86030164T=CA1267041267POLR1Ac.4779+32A= (n.4779+32A=)
c.4596+32A= (n.4596+32A=)
c.4455+32A= (n.4455+32A=)
2g.86030167G>CCA2659905139POLR1Ac.4779+29C>G (n.4779+29C>G)
c.4596+29C>G (n.4596+29C>G)
c.4455+29C>G (n.4455+29C>G)
 gnomAD v4
2g.86030167G>TCA2659905140POLR1Ac.4779+29C>A (n.4779+29C>A)
c.4596+29C>A (n.4596+29C>A)
c.4455+29C>A (n.4455+29C>A)
 gnomAD v4
2g.86030168T>CCA1745404POLR1Ac.4779+28A>G (n.4779+28A>G)
c.4596+28A>G (n.4596+28A>G)
c.4455+28A>G (n.4455+28A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030168T=CA1267041269POLR1Ac.4779+28A= (n.4779+28A=)
c.4596+28A= (n.4596+28A=)
c.4455+28A= (n.4455+28A=)
2g.86030170C=CA1267041270POLR1Ac.4779+26G= (n.4779+26G=)
c.4596+26G= (n.4596+26G=)
c.4455+26G= (n.4455+26G=)
2g.86030170C>TCA51365580POLR1Ac.4779+26G>A (n.4779+26G>A)
c.4596+26G>A (n.4596+26G>A)
c.4455+26G>A (n.4455+26G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.86030173G>ACA1745405POLR1Ac.4779+23C>T (n.4779+23C>T)
c.4596+23C>T (n.4596+23C>T)
c.4455+23C>T (n.4455+23C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030173G=CA1267041271POLR1Ac.4779+23C= (n.4779+23C=)
c.4596+23C= (n.4596+23C=)
c.4455+23C= (n.4455+23C=)
2g.86030173G>TCA2577023195POLR1Ac.4779+23C>A (n.4779+23C>A)
c.4596+23C>A (n.4596+23C>A)
c.4455+23C>A (n.4455+23C>A)
 gnomAD v4
2g.86030174G>CCA2659905145POLR1Ac.4779+22C>G (n.4779+22C>G)
c.4596+22C>G (n.4596+22C>G)
c.4455+22C>G (n.4455+22C>G)
 gnomAD v4
2g.86030174G>TCA2659905146POLR1Ac.4779+22C>A (n.4779+22C>A)
c.4596+22C>A (n.4596+22C>A)
c.4455+22C>A (n.4455+22C>A)
 gnomAD v4
2g.86030174_86030175delinsGCCA1267041272POLR1Ac.4779+21_4779+22delinsGC (n.4779+21_4779+22delinsGC)
c.4596+21_4596+22delinsGC (n.4596+21_4596+22delinsGC)
c.4455+21_4455+22delinsGC (n.4455+21_4455+22delinsGC)
2g.86030175C>TCA2659905147POLR1Ac.4779+21G>A (n.4779+21G>A)
c.4596+21G>A (n.4596+21G>A)
c.4455+21G>A (n.4455+21G>A)
 gnomAD v4
2g.86030176delCA894038468POLR1Ac.4779+21del (n.4779+21del)
c.4596+21del (n.4596+21del)
c.4455+21del (n.4455+21del)
 dbSNP gnomAD v3 gnomAD v4
2g.86030176_86030178delinsCAGCA1267041273POLR1Ac.4779+18_4779+20delinsCTG (n.4779+18_4779+20delinsCTG)
c.4596+18_4596+20delinsCTG (n.4596+18_4596+20delinsCTG)
c.4455+18_4455+20delinsCTG (n.4455+18_4455+20delinsCTG)
2g.86030176_86030180delinsCAGCACA1267041274POLR1Ac.4779+16_4779+20delinsTGCTG (n.4779+16_4779+20delinsTGCTG)
c.4596+16_4596+20delinsTGCTG (n.4596+16_4596+20delinsTGCTG)
c.4455+16_4455+20delinsTGCTG (n.4455+16_4455+20delinsTGCTG)
2g.86030177_86030178delCA1745406POLR1Ac.4779+18_4779+19del (n.4779+18_4779+19del)
c.4596+18_4596+19del (n.4596+18_4596+19del)
c.4455+18_4455+19del (n.4455+18_4455+19del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030177_86030180delCA51365587POLR1Ac.4779+16_4779+19del (n.4779+16_4779+19del)
c.4596+16_4596+19del (n.4596+16_4596+19del)
c.4455+16_4455+19del (n.4455+16_4455+19del)
 ClinVar dbSNP
2g.86030178G>TCA2659905150POLR1Ac.4779+18C>A (n.4779+18C>A)
c.4596+18C>A (n.4596+18C>A)
c.4455+18C>A (n.4455+18C>A)
 gnomAD v4
2g.86030178_86030181delCA347545225POLR1Ac.4779+15_4779+18del (n.4779+15_4779+18del)
c.4596+15_4596+18del (n.4596+15_4596+18del)
c.4455+15_4455+18del (n.4455+15_4455+18del)
2g.86030179C>ACA534230467POLR1Ac.4779+17G>T (n.4779+17G>T)
c.4596+17G>T (n.4596+17G>T)
c.4455+17G>T (n.4455+17G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030179C=CA1267041276POLR1Ac.4779+17G= (n.4779+17G=)
c.4596+17G= (n.4596+17G=)
c.4455+17G= (n.4455+17G=)
2g.86030179_86030181delinsCAGCA1267041275POLR1Ac.4779+15_4779+17delinsCTG (n.4779+15_4779+17delinsCTG)
c.4596+15_4596+17delinsCTG (n.4596+15_4596+17delinsCTG)
c.4455+15_4455+17delinsCTG (n.4455+15_4455+17delinsCTG)
2g.86030182_86030185delCA2577023196POLR1Ac.4779+14_4779+17del (n.4779+14_4779+17del)
c.4596+14_4596+17del (n.4596+14_4596+17del)
c.4455+14_4455+17del (n.4455+14_4455+17del)
2g.86030181_86030182delCA1745407POLR1Ac.4779+15_4779+16del (n.4779+15_4779+16del)
c.4596+15_4596+16del (n.4596+15_4596+16del)
c.4455+15_4455+16del (n.4455+15_4455+16del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030181G>CCA51365618POLR1Ac.4779+15C>G (n.4779+15C>G)
c.4596+15C>G (n.4596+15C>G)
c.4455+15C>G (n.4455+15C>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.86030181G=CA1267041277POLR1Ac.4779+15C= (n.4779+15C=)
c.4596+15C= (n.4596+15C=)
c.4455+15C= (n.4455+15C=)
2g.86030182A>GCA2577023197POLR1Ac.4779+14T>C (n.4779+14T>C)
c.4596+14T>C (n.4596+14T>C)
c.4455+14T>C (n.4455+14T>C)
 gnomAD v4
2g.86030183C=CA1267041278POLR1Ac.4779+13G= (n.4779+13G=)
c.4596+13G= (n.4596+13G=)
c.4455+13G= (n.4455+13G=)
2g.86030183C>GCA1745408POLR1Ac.4779+13G>C (n.4779+13G>C)
c.4596+13G>C (n.4596+13G>C)
c.4455+13G>C (n.4455+13G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030183C>TCA1267041279POLR1Ac.4779+13G>A (n.4779+13G>A)
c.4596+13G>A (n.4596+13G>A)
c.4455+13G>A (n.4455+13G>A)
 dbSNP gnomAD v4
2g.86030184A>GCA2659905165POLR1Ac.4779+12T>C (n.4779+12T>C)
c.4596+12T>C (n.4596+12T>C)
c.4455+12T>C (n.4455+12T>C)
 gnomAD v4
2g.86030185G>TCA2659905167POLR1Ac.4779+11C>A (n.4779+11C>A)
c.4596+11C>A (n.4596+11C>A)
c.4455+11C>A (n.4455+11C>A)
 gnomAD v4
2g.86030186C>GCA2566611973POLR1Ac.4779+10G>C (n.4779+10G>C)
c.4596+10G>C (n.4596+10G>C)
c.4455+10G>C (n.4455+10G>C)
2g.86030187C>ACA1033085468POLR1Ac.4779+9G>T (n.4779+9G>T)
c.4596+9G>T (n.4596+9G>T)
c.4455+9G>T (n.4455+9G>T)
 dbSNP gnomAD v3 gnomAD v4
2g.86030187C=CA1267041280POLR1Ac.4779+9G= (n.4779+9G=)
c.4596+9G= (n.4596+9G=)
c.4455+9G= (n.4455+9G=)
2g.86030187C>GCA1267041281POLR1Ac.4779+9G>C (n.4779+9G>C)
c.4596+9G>C (n.4596+9G>C)
c.4455+9G>C (n.4455+9G>C)
 dbSNP gnomAD v4
2g.86030187C>TCA1745409POLR1Ac.4779+9G>A (n.4779+9G>A)
c.4596+9G>A (n.4596+9G>A)
c.4455+9G>A (n.4455+9G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030189G>ACA1745410POLR1Ac.4779+7C>T (n.4779+7C>T)
c.4596+7C>T (n.4596+7C>T)
c.4455+7C>T (n.4455+7C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030189G=CA1267041282POLR1Ac.4779+7C= (n.4779+7C=)
c.4596+7C= (n.4596+7C=)
c.4455+7C= (n.4455+7C=)
2g.86030191C>ACA645529510POLR1Ac.4779+5G>T (n.4779+5G>T)
c.4596+5G>T (n.4596+5G>T)
c.4455+5G>T (n.4455+5G>T)
 COSMIC
2g.86030191C>GCA2659905175POLR1Ac.4779+5G>C (n.4779+5G>C)
c.4596+5G>C (n.4596+5G>C)
c.4455+5G>C (n.4455+5G>C)
 gnomAD v4
2g.86030192T>CCA1745411POLR1Ac.4779+4A>G (n.4779+4A>G)
c.4596+4A>G (n.4596+4A>G)
c.4455+4A>G (n.4455+4A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030192T=CA1267041283POLR1Ac.4779+4A= (n.4779+4A=)
c.4596+4A= (n.4596+4A=)
c.4455+4A= (n.4455+4A=)
2g.86030193T>CCA2659905181POLR1Ac.4779+3A>G (n.4779+3A>G)
c.4596+3A>G (n.4596+3A>G)
c.4455+3A>G (n.4455+3A>G)
 gnomAD v4
2g.86030193T>GCA2659905182POLR1Ac.4779+3A>C (n.4779+3A>C)
c.4596+3A>C (n.4596+3A>C)
c.4455+3A>C (n.4455+3A>C)
 gnomAD v4
2g.86030194A>CCA347545226POLR1Ac.4779+2T>G (n.4779+2T>G)
c.4596+2T>G (n.4596+2T>G)
c.4455+2T>G (n.4455+2T>G)
2g.86030194A>GCA347545227POLR1Ac.4779+2T>C (n.4779+2T>C)
c.4596+2T>C (n.4596+2T>C)
c.4455+2T>C (n.4455+2T>C)
2g.86030194A>TCA347545228POLR1Ac.4779+2T>A (n.4779+2T>A)
c.4596+2T>A (n.4596+2T>A)
c.4455+2T>A (n.4455+2T>A)
2g.86030195C>ACA347545229POLR1Ac.4779+1G>T (n.4779+1G>T)
c.4596+1G>T (n.4596+1G>T)
c.4455+1G>T (n.4455+1G>T)
2g.86030195C>GCA347545230POLR1Ac.4779+1G>C (n.4779+1G>C)
c.4596+1G>C (n.4596+1G>C)
c.4455+1G>C (n.4455+1G>C)
2g.86030195C>TCA347545231POLR1Ac.4779+1G>A (n.4779+1G>A)
c.4596+1G>A (n.4596+1G>A)
c.4455+1G>A (n.4455+1G>A)
2g.86030196C>ACA347545232POLR1Ac.4779G>T (p.Glu1593Asp)
c.4596G>T (p.Glu1532Asp)
c.4455G>T (p.Glu1485Asp)
2g.86030196C>GCA347545233POLR1Ac.4779G>C (p.Glu1593Asp)
c.4596G>C (p.Glu1532Asp)
c.4455G>C (p.Glu1485Asp)
2g.86030196C>TCA427146882POLR1Ac.4779G>A (p.Glu1593=)
c.4596G>A (p.Glu1532=)
c.4455G>A (p.Glu1485=)
2g.86030198_86030199delCA2577023198POLR1Ac.4778_4779del (p.Glu1593GlyfsTer22)
c.4595_4596del (p.Glu1532GlyfsTer22)
c.4454_4455del (p.Glu1485GlyfsTer22)
2g.86030197T>ACA347545234POLR1Ac.4778A>T (p.Glu1593Val)
c.4595A>T (p.Glu1532Val)
c.4454A>T (p.Glu1485Val)
2g.86030197T>CCA347545235POLR1Ac.4778A>G (p.Glu1593Gly)
c.4595A>G (p.Glu1532Gly)
c.4454A>G (p.Glu1485Gly)
 gnomAD v4
2g.86030197T>GCA347545236POLR1Ac.4778A>C (p.Glu1593Ala)
c.4595A>C (p.Glu1532Ala)
c.4454A>C (p.Glu1485Ala)
2g.86030198C>ACA347545237POLR1Ac.4777G>T (p.Glu1593Ter)
c.4594G>T (p.Glu1532Ter)
c.4453G>T (p.Glu1485Ter)
2g.86030198C>GCA347545238POLR1Ac.4777G>C (p.Glu1593Gln)
c.4594G>C (p.Glu1532Gln)
c.4453G>C (p.Glu1485Gln)
2g.86030198C>TCA347545239POLR1Ac.4777G>A (p.Glu1593Lys)
c.4594G>A (p.Glu1532Lys)
c.4453G>A (p.Glu1485Lys)
 gnomAD v4
2g.86030199T>ACA427146883POLR1Ac.4776A>T (p.Ala1592=)
c.4593A>T (p.Ala1531=)
c.4452A>T (p.Ala1484=)
2g.86030199T>CCA427146884POLR1Ac.4776A>G (p.Ala1592=)
c.4593A>G (p.Ala1531=)
c.4452A>G (p.Ala1484=)
2g.86030199T>GCA427146885POLR1Ac.4776A>C (p.Ala1592=)
c.4593A>C (p.Ala1531=)
c.4452A>C (p.Ala1484=)
2g.86030200G>ACA347545240POLR1Ac.4775C>T (p.Ala1592Val)
c.4592C>T (p.Ala1531Val)
c.4451C>T (p.Ala1484Val)
2g.86030200G>CCA347545241POLR1Ac.4775C>G (p.Ala1592Gly)
c.4592C>G (p.Ala1531Gly)
c.4451C>G (p.Ala1484Gly)
2g.86030200G>TCA347545242POLR1Ac.4775C>A (p.Ala1592Glu)
c.4592C>A (p.Ala1531Glu)
c.4451C>A (p.Ala1484Glu)
2g.86030201C>ACA347545243POLR1Ac.4774G>T (p.Ala1592Ser)
c.4591G>T (p.Ala1531Ser)
c.4450G>T (p.Ala1484Ser)
2g.86030201C=CA1267041284POLR1Ac.4774G= (p.Ala1592=)
c.4591G= (p.Ala1531=)
c.4450G= (p.Ala1484=)
2g.86030201C>GCA347545244POLR1Ac.4774G>C (p.Ala1592Pro)
c.4591G>C (p.Ala1531Pro)
c.4450G>C (p.Ala1484Pro)
2g.86030201C>TCA1745412POLR1Ac.4774G>A (p.Ala1592Thr)
c.4591G>A (p.Ala1531Thr)
c.4450G>A (p.Ala1484Thr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.86030202A>CCA347545245POLR1Ac.4773T>G (p.Tyr1591Ter)
c.4590T>G (p.Tyr1530Ter)
c.4449T>G (p.Tyr1483Ter)
2g.86030202A>GCA427146886POLR1Ac.4773T>C (p.Tyr1591=)
c.4590T>C (p.Tyr1530=)
c.4449T>C (p.Tyr1483=)
2g.86030202A>TCA347545246POLR1Ac.4773T>A (p.Tyr1591Ter)
c.4590T>A (p.Tyr1530Ter)
c.4449T>A (p.Tyr1483Ter)
2g.86030203T>ACA347545247POLR1Ac.4772A>T (p.Tyr1591Phe)
c.4589A>T (p.Tyr1530Phe)
c.4448A>T (p.Tyr1483Phe)
2g.86030203T>CCA347545248POLR1Ac.4772A>G (p.Tyr1591Cys)
c.4589A>G (p.Tyr1530Cys)
c.4448A>G (p.Tyr1483Cys)
2g.86030203T>GCA347545249POLR1Ac.4772A>C (p.Tyr1591Ser)
c.4589A>C (p.Tyr1530Ser)
c.4448A>C (p.Tyr1483Ser)
2g.86030204A>CCA347545250POLR1Ac.4771T>G (p.Tyr1591Asp)
c.4588T>G (p.Tyr1530Asp)
c.4447T>G (p.Tyr1483Asp)
2g.86030204A>GCA347545251POLR1Ac.4771T>C (p.Tyr1591His)
c.4588T>C (p.Tyr1530His)
c.4447T>C (p.Tyr1483His)
2g.86030204A>TCA347545252POLR1Ac.4771T>A (p.Tyr1591Asn)
c.4588T>A (p.Tyr1530Asn)
c.4447T>A (p.Tyr1483Asn)
2g.86030205C>ACA347545253POLR1Ac.4770G>T (p.Lys1590Asn)
c.4587G>T (p.Lys1529Asn)
c.4446G>T (p.Lys1482Asn)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.86030205C=CA1267041285POLR1Ac.4770G= (p.Lys1590=)
c.4587G= (p.Lys1529=)
c.4446G= (p.Lys1482=)
2g.86030205C>GCA347545254POLR1Ac.4770G>C (p.Lys1590Asn)
c.4587G>C (p.Lys1529Asn)
c.4446G>C (p.Lys1482Asn)
 gnomAD v4
2g.86030205C>TCA427146887POLR1Ac.4770G>A (p.Lys1590=)
c.4587G>A (p.Lys1529=)
c.4446G>A (p.Lys1482=)
2g.86030206T>ACA347545256POLR1Ac.4769A>T (p.Lys1590Met)
c.4586A>T (p.Lys1529Met)
c.4445A>T (p.Lys1482Met)
2g.86030206T>CCA347545257POLR1Ac.4769A>G (p.Lys1590Arg)
c.4586A>G (p.Lys1529Arg)
c.4445A>G (p.Lys1482Arg)
2g.86030206T>GCA347545258POLR1Ac.4769A>C (p.Lys1590Thr)
c.4586A>C (p.Lys1529Thr)
c.4445A>C (p.Lys1482Thr)
2g.86030207T>ACA347545259POLR1Ac.4768A>T (p.Lys1590Ter)
c.4585A>T (p.Lys1529Ter)
c.4444A>T (p.Lys1482Ter)
2g.86030207T>CCA347545260POLR1Ac.4768A>G (p.Lys1590Glu)
c.4585A>G (p.Lys1529Glu)
c.4444A>G (p.Lys1482Glu)
2g.86030207T>GCA1745413POLR1Ac.4768A>C (p.Lys1590Gln)
c.4585A>C (p.Lys1529Gln)
c.4444A>C (p.Lys1482Gln)
 dbSNP ExAC gnomAD v2
2g.86030207T=CA1267041286POLR1Ac.4768A= (p.Lys1590=)
c.4585A= (p.Lys1529=)
c.4444A= (p.Lys1482=)
2g.86030208G>ACA427146888POLR1Ac.4767C>T (p.Phe1589=)
c.4584C>T (p.Phe1528=)
c.4443C>T (p.Phe1481=)
2g.86030208G>CCA347545261POLR1Ac.4767C>G (p.Phe1589Leu)
c.4584C>G (p.Phe1528Leu)
c.4443C>G (p.Phe1481Leu)
 gnomAD v4
2g.86030208G>TCA347545262POLR1Ac.4767C>A (p.Phe1589Leu)
c.4584C>A (p.Phe1528Leu)
c.4443C>A (p.Phe1481Leu)
2g.86030209A>CCA347545263POLR1Ac.4766T>G (p.Phe1589Cys)
c.4583T>G (p.Phe1528Cys)
c.4442T>G (p.Phe1481Cys)
2g.86030209A>GCA347545264POLR1Ac.4766T>C (p.Phe1589Ser)
c.4583T>C (p.Phe1528Ser)
c.4442T>C (p.Phe1481Ser)
2g.86030209A>TCA347545265POLR1Ac.4766T>A (p.Phe1589Tyr)
c.4583T>A (p.Phe1528Tyr)
c.4442T>A (p.Phe1481Tyr)
2g.86030210A>CCA347545266POLR1Ac.4765T>G (p.Phe1589Val)
c.4582T>G (p.Phe1528Val)
c.4441T>G (p.Phe1481Val)
2g.86030210A>GCA347545267POLR1Ac.4765T>C (p.Phe1589Leu)
c.4582T>C (p.Phe1528Leu)
c.4441T>C (p.Phe1481Leu)
2g.86030210A>TCA347545268POLR1Ac.4765T>A (p.Phe1589Ile)
c.4582T>A (p.Phe1528Ile)
c.4441T>A (p.Phe1481Ile)
2g.86030211T>ACA427146988POLR1Ac.4764A>T (p.Leu1588=)
c.4581A>T (p.Leu1527=)
c.4440A>T (p.Leu1480=)
2g.86030211T>CCA1745414POLR1Ac.4764A>G (p.Leu1588=)
c.4581A>G (p.Leu1527=)
c.4440A>G (p.Leu1480=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030211T>GCA427146987POLR1Ac.4764A>C (p.Leu1588=)
c.4581A>C (p.Leu1527=)
c.4440A>C (p.Leu1480=)
2g.86030211T=CA1267041287POLR1Ac.4764A= (p.Leu1588=)
c.4581A= (p.Leu1527=)
c.4440A= (p.Leu1480=)
2g.86030212A>CCA347545269POLR1Ac.4763T>G (p.Leu1588Arg)
c.4580T>G (p.Leu1527Arg)
c.4439T>G (p.Leu1480Arg)
2g.86030212A>GCA347545270POLR1Ac.4763T>C (p.Leu1588Pro)
c.4580T>C (p.Leu1527Pro)
c.4439T>C (p.Leu1480Pro)
2g.86030212A>TCA347545271POLR1Ac.4763T>A (p.Leu1588Gln)
c.4580T>A (p.Leu1527Gln)
c.4439T>A (p.Leu1480Gln)
2g.86030213G>ACA427146989POLR1Ac.4762C>T (p.Leu1588=)
c.4579C>T (p.Leu1527=)
c.4438C>T (p.Leu1480=)
2g.86030213G>CCA347545272POLR1Ac.4762C>G (p.Leu1588Val)
c.4579C>G (p.Leu1527Val)
c.4438C>G (p.Leu1480Val)
2g.86030213G>TCA347545273POLR1Ac.4762C>A (p.Leu1588Ile)
c.4579C>A (p.Leu1527Ile)
c.4438C>A (p.Leu1480Ile)
2g.86030214C>ACA1745415POLR1Ac.4761G>T (p.Glu1587Asp)
c.4578G>T (p.Glu1526Asp)
c.4437G>T (p.Glu1479Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030214C=CA1267041288POLR1Ac.4761G= (p.Glu1587=)
c.4578G= (p.Glu1526=)
c.4437G= (p.Glu1479=)
2g.86030214C>GCA347545274POLR1Ac.4761G>C (p.Glu1587Asp)
c.4578G>C (p.Glu1526Asp)
c.4437G>C (p.Glu1479Asp)
2g.86030214C>TCA427146990POLR1Ac.4761G>A (p.Glu1587=)
c.4578G>A (p.Glu1526=)
c.4437G>A (p.Glu1479=)
2g.86030215T>ACA347545275POLR1Ac.4760A>T (p.Glu1587Val)
c.4577A>T (p.Glu1526Val)
c.4436A>T (p.Glu1479Val)
2g.86030215T>CCA347545277POLR1Ac.4760A>G (p.Glu1587Gly)
c.4577A>G (p.Glu1526Gly)
c.4436A>G (p.Glu1479Gly)
2g.86030215T>GCA347545276POLR1Ac.4760A>C (p.Glu1587Ala)
c.4577A>C (p.Glu1526Ala)
c.4436A>C (p.Glu1479Ala)
2g.86030216C>ACA347545278POLR1Ac.4759G>T (p.Glu1587Ter)
c.4576G>T (p.Glu1526Ter)
c.4435G>T (p.Glu1479Ter)
2g.86030216C>GCA347545280POLR1Ac.4759G>C (p.Glu1587Gln)
c.4576G>C (p.Glu1526Gln)
c.4435G>C (p.Glu1479Gln)
 gnomAD v4
2g.86030216C>TCA347545279POLR1Ac.4759G>A (p.Glu1587Lys)
c.4576G>A (p.Glu1526Lys)
c.4435G>A (p.Glu1479Lys)
2g.86030217T>ACA427146992POLR1Ac.4758A>T (p.Pro1586=)
c.4575A>T (p.Pro1525=)
c.4434A>T (p.Pro1478=)
2g.86030217T>CCA427146993POLR1Ac.4758A>G (p.Pro1586=)
c.4575A>G (p.Pro1525=)
c.4434A>G (p.Pro1478=)
 gnomAD v4
2g.86030217T>GCA427146994POLR1Ac.4758A>C (p.Pro1586=)
c.4575A>C (p.Pro1525=)
c.4434A>C (p.Pro1478=)
2g.86030218G>ACA347545281POLR1Ac.4757C>T (p.Pro1586Leu)
c.4574C>T (p.Pro1525Leu)
c.4433C>T (p.Pro1478Leu)
 gnomAD v4
2g.86030218G>CCA347545282POLR1Ac.4757C>G (p.Pro1586Arg)
c.4574C>G (p.Pro1525Arg)
c.4433C>G (p.Pro1478Arg)
2g.86030218G>TCA347545283POLR1Ac.4757C>A (p.Pro1586Gln)
c.4574C>A (p.Pro1525Gln)
c.4433C>A (p.Pro1478Gln)
2g.86030219G>ACA1745416POLR1Ac.4756C>T (p.Pro1586Ser)
c.4573C>T (p.Pro1525Ser)
c.4432C>T (p.Pro1478Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030219G>CCA347545284POLR1Ac.4756C>G (p.Pro1586Ala)
c.4573C>G (p.Pro1525Ala)
c.4432C>G (p.Pro1478Ala)
2g.86030219G=CA1267041289POLR1Ac.4756C= (p.Pro1586=)
c.4573C= (p.Pro1525=)
c.4432C= (p.Pro1478=)
2g.86030219G>TCA347545285POLR1Ac.4756C>A (p.Pro1586Thr)
c.4573C>A (p.Pro1525Thr)
c.4432C>A (p.Pro1478Thr)
2g.86030220G>ACA427146998POLR1Ac.4755C>T (p.Leu1585=)
c.4572C>T (p.Leu1524=)
c.4431C>T (p.Leu1477=)
2g.86030220G>CCA427146999POLR1Ac.4755C>G (p.Leu1585=)
c.4572C>G (p.Leu1524=)
c.4431C>G (p.Leu1477=)
2g.86030220G>TCA427147002POLR1Ac.4755C>A (p.Leu1585=)
c.4572C>A (p.Leu1524=)
c.4431C>A (p.Leu1477=)
 gnomAD v4
2g.86030221A>CCA347545288POLR1Ac.4754T>G (p.Leu1585Arg)
c.4571T>G (p.Leu1524Arg)
c.4430T>G (p.Leu1477Arg)
2g.86030221A>GCA347545286POLR1Ac.4754T>C (p.Leu1585Pro)
c.4571T>C (p.Leu1524Pro)
c.4430T>C (p.Leu1477Pro)
2g.86030221A>TCA347545287POLR1Ac.4754T>A (p.Leu1585His)
c.4571T>A (p.Leu1524His)
c.4430T>A (p.Leu1477His)
2g.86030222G>ACA347545289POLR1Ac.4753C>T (p.Leu1585Phe)
c.4570C>T (p.Leu1524Phe)
c.4429C>T (p.Leu1477Phe)
2g.86030222G>CCA1745417POLR1Ac.4753C>G (p.Leu1585Val)
c.4570C>G (p.Leu1524Val)
c.4429C>G (p.Leu1477Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.86030222G=CA1267041290POLR1Ac.4753C= (p.Leu1585=)
c.4570C= (p.Leu1524=)
c.4429C= (p.Leu1477=)
2g.86030222G>TCA347545290POLR1Ac.4753C>A (p.Leu1585Ile)
c.4570C>A (p.Leu1524Ile)
c.4429C>A (p.Leu1477Ile)
2g.86030223G>ACA427147007POLR1Ac.4752C>T (p.Asn1584=)
c.4569C>T (p.Asn1523=)
c.4428C>T (p.Asn1476=)
 dbSNP
2g.86030223G>CCA347545291POLR1Ac.4752C>G (p.Asn1584Lys)
c.4569C>G (p.Asn1523Lys)
c.4428C>G (p.Asn1476Lys)
 dbSNP
2g.86030223G=CA1267041291POLR1Ac.4752C= (p.Asn1584=)
c.4569C= (p.Asn1523=)
c.4428C= (p.Asn1476=)
2g.86030223G>TCA347545292POLR1Ac.4752C>A (p.Asn1584Lys)
c.4569C>A (p.Asn1523Lys)
c.4428C>A (p.Asn1476Lys)
 gnomAD v4
2g.86030224T>ACA347545295POLR1Ac.4751A>T (p.Asn1584Ile)
c.4568A>T (p.Asn1523Ile)
c.4427A>T (p.Asn1476Ile)
2g.86030224T>CCA347545293POLR1Ac.4751A>G (p.Asn1584Ser)
c.4568A>G (p.Asn1523Ser)
c.4427A>G (p.Asn1476Ser)
 gnomAD v4
2g.86030224T>GCA347545294POLR1Ac.4751A>C (p.Asn1584Thr)
c.4568A>C (p.Asn1523Thr)
c.4427A>C (p.Asn1476Thr)
2g.86030225T>ACA347545296POLR1Ac.4750A>T (p.Asn1584Tyr)
c.4567A>T (p.Asn1523Tyr)
c.4426A>T (p.Asn1476Tyr)
2g.86030225T>CCA347545297POLR1Ac.4750A>G (p.Asn1584Asp)
c.4567A>G (p.Asn1523Asp)
c.4426A>G (p.Asn1476Asp)
2g.86030225T>GCA347545298POLR1Ac.4750A>C (p.Asn1584His)
c.4567A>C (p.Asn1523His)
c.4426A>C (p.Asn1476His)
2g.86030226G>ACA427147012POLR1Ac.4749C>T (p.Ile1583=)
c.4566C>T (p.Ile1522=)
c.4425C>T (p.Ile1475=)
2g.86030226G>CCA347545299POLR1Ac.4749C>G (p.Ile1583Met)
c.4566C>G (p.Ile1522Met)
c.4425C>G (p.Ile1475Met)
2g.86030226G>TCA427147010POLR1Ac.4749C>A (p.Ile1583=)
c.4566C>A (p.Ile1522=)
c.4425C>A (p.Ile1475=)
2g.86030227A>CCA347545300POLR1Ac.4748T>G (p.Ile1583Ser)
c.4565T>G (p.Ile1522Ser)
c.4424T>G (p.Ile1475Ser)
2g.86030227A>GCA347545301POLR1Ac.4748T>C (p.Ile1583Thr)
c.4565T>C (p.Ile1522Thr)
c.4424T>C (p.Ile1475Thr)
2g.86030227A>TCA347545302POLR1Ac.4748T>A (p.Ile1583Asn)
c.4565T>A (p.Ile1522Asn)
c.4424T>A (p.Ile1475Asn)
2g.86030228T>ACA347545303POLR1Ac.4747A>T (p.Ile1583Phe)
c.4564A>T (p.Ile1522Phe)
c.4423A>T (p.Ile1475Phe)
 ClinVar
2g.86030228T>CCA347545304POLR1Ac.4747A>G (p.Ile1583Val)
c.4564A>G (p.Ile1522Val)
c.4423A>G (p.Ile1475Val)
 gnomAD v4
2g.86030228T>GCA347545305POLR1Ac.4747A>C (p.Ile1583Leu)
c.4564A>C (p.Ile1522Leu)
c.4423A>C (p.Ile1475Leu)
2g.86030229T>ACA427147013POLR1Ac.4746A>T (p.Gly1582=)
c.4563A>T (p.Gly1521=)
c.4422A>T (p.Gly1474=)
2g.86030229T>CCA427147014POLR1Ac.4746A>G (p.Gly1582=)
c.4563A>G (p.Gly1521=)
c.4422A>G (p.Gly1474=)
2g.86030229T>GCA427147015POLR1Ac.4746A>C (p.Gly1582=)
c.4563A>C (p.Gly1521=)
c.4422A>C (p.Gly1474=)
2g.86030230C>ACA347545306POLR1Ac.4745G>T (p.Gly1582Val)
c.4562G>T (p.Gly1521Val)
c.4421G>T (p.Gly1474Val)
2g.86030230C>GCA347545307POLR1Ac.4745G>C (p.Gly1582Ala)
c.4562G>C (p.Gly1521Ala)
c.4421G>C (p.Gly1474Ala)
2g.86030230C>TCA347545308POLR1Ac.4745G>A (p.Gly1582Glu)
c.4562G>A (p.Gly1521Glu)
c.4421G>A (p.Gly1474Glu)
2g.86030231C>ACA347545309POLR1Ac.4744G>T (p.Gly1582Ter)
c.4561G>T (p.Gly1521Ter)
c.4420G>T (p.Gly1474Ter)
2g.86030231C>GCA347545311POLR1Ac.4744G>C (p.Gly1582Arg)
c.4561G>C (p.Gly1521Arg)
c.4420G>C (p.Gly1474Arg)
2g.86030231C>TCA347545310POLR1Ac.4744G>A (p.Gly1582Arg)
c.4561G>A (p.Gly1521Arg)
c.4420G>A (p.Gly1474Arg)
2g.86030232T>ACA347545312POLR1Ac.4743A>T (p.Glu1581Asp)
c.4560A>T (p.Glu1520Asp)
c.4419A>T (p.Glu1473Asp)
2g.86030232T>CCA427147017POLR1Ac.4743A>G (p.Glu1581=)
c.4560A>G (p.Glu1520=)
c.4419A>G (p.Glu1473=)
 ClinVar dbSNP gnomAD v4
2g.86030232T>GCA347545313POLR1Ac.4743A>C (p.Glu1581Asp)
c.4560A>C (p.Glu1520Asp)
c.4419A>C (p.Glu1473Asp)
2g.86030232T=CA1267041292POLR1Ac.4743A= (p.Glu1581=)
c.4560A= (p.Glu1520=)
c.4419A= (p.Glu1473=)
2g.86030233T>ACA347545314POLR1Ac.4742A>T (p.Glu1581Val)
c.4559A>T (p.Glu1520Val)
c.4418A>T (p.Glu1473Val)
2g.86030233T>CCA347545315POLR1Ac.4742A>G (p.Glu1581Gly)
c.4559A>G (p.Glu1520Gly)
c.4418A>G (p.Glu1473Gly)
2g.86030233T>GCA347545316POLR1Ac.4742A>C (p.Glu1581Ala)
c.4559A>C (p.Glu1520Ala)
c.4418A>C (p.Glu1473Ala)
2g.86030234C>ACA347545317POLR1Ac.4741G>T (p.Glu1581Ter)
c.4558G>T (p.Glu1520Ter)
c.4417G>T (p.Glu1473Ter)
2g.86030234C>GCA347545318POLR1Ac.4741G>C (p.Glu1581Gln)
c.4558G>C (p.Glu1520Gln)
c.4417G>C (p.Glu1473Gln)
2g.86030234C>TCA347545319POLR1Ac.4741G>A (p.Glu1581Lys)
c.4558G>A (p.Glu1520Lys)
c.4417G>A (p.Glu1473Lys)
2g.86030235T>ACA427147019POLR1Ac.4740A>T (p.Thr1580=)
c.4557A>T (p.Thr1519=)
c.4416A>T (p.Thr1472=)
2g.86030235T>CCA427147020POLR1Ac.4740A>G (p.Thr1580=)
c.4557A>G (p.Thr1519=)
c.4416A>G (p.Thr1472=)
2g.86030235T>GCA427147021POLR1Ac.4740A>C (p.Thr1580=)
c.4557A>C (p.Thr1519=)
c.4416A>C (p.Thr1472=)
2g.86030236G>ACA347545320POLR1Ac.4739C>T (p.Thr1580Ile)
c.4556C>T (p.Thr1519Ile)
c.4415C>T (p.Thr1472Ile)
2g.86030236G>CCA347545321POLR1Ac.4739C>G (p.Thr1580Arg)
c.4556C>G (p.Thr1519Arg)
c.4415C>G (p.Thr1472Arg)
2g.86030236G>TCA347545322POLR1Ac.4739C>A (p.Thr1580Lys)
c.4556C>A (p.Thr1519Lys)
c.4415C>A (p.Thr1472Lys)
2g.86030237T>ACA347545323POLR1Ac.4738A>T (p.Thr1580Ser)
c.4555A>T (p.Thr1519Ser)
c.4414A>T (p.Thr1472Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.86030237T>CCA347545324POLR1Ac.4738A>G (p.Thr1580Ala)
c.4555A>G (p.Thr1519Ala)
c.4414A>G (p.Thr1472Ala)
2g.86030237T>GCA347545325POLR1Ac.4738A>C (p.Thr1580Pro)
c.4555A>C (p.Thr1519Pro)
c.4414A>C (p.Thr1472Pro)
2g.86030237T=CA1267041293POLR1Ac.4738A= (p.Thr1580=)
c.4555A= (p.Thr1519=)
c.4414A= (p.Thr1472=)
2g.86030238G>ACA427147023POLR1Ac.4737C>T (p.Asn1579=)
c.4554C>T (p.Asn1518=)
c.4413C>T (p.Asn1471=)
2g.86030238G>CCA347545326POLR1Ac.4737C>G (p.Asn1579Lys)
c.4554C>G (p.Asn1518Lys)
c.4413C>G (p.Asn1471Lys)
2g.86030238G>TCA347545327POLR1Ac.4737C>A (p.Asn1579Lys)
c.4554C>A (p.Asn1518Lys)
c.4413C>A (p.Asn1471Lys)
 gnomAD v4
2g.86030239T>ACA347545328POLR1Ac.4736A>T (p.Asn1579Ile)
c.4553A>T (p.Asn1518Ile)
c.4412A>T (p.Asn1471Ile)
2g.86030239T>CCA347545329POLR1Ac.4736A>G (p.Asn1579Ser)
c.4553A>G (p.Asn1518Ser)
c.4412A>G (p.Asn1471Ser)
2g.86030239T>GCA347545330POLR1Ac.4736A>C (p.Asn1579Thr)
c.4553A>C (p.Asn1518Thr)
c.4412A>C (p.Asn1471Thr)
2g.86030240T>ACA347545331POLR1Ac.4735A>T (p.Asn1579Tyr)
c.4552A>T (p.Asn1518Tyr)
c.4411A>T (p.Asn1471Tyr)
2g.86030240T>CCA347545332POLR1Ac.4735A>G (p.Asn1579Asp)
c.4552A>G (p.Asn1518Asp)
c.4411A>G (p.Asn1471Asp)
2g.86030240T>GCA347545333POLR1Ac.4735A>C (p.Asn1579His)
c.4552A>C (p.Asn1518His)
c.4411A>C (p.Asn1471His)
2g.86030241T>ACA427147027POLR1Ac.4734A>T (p.Leu1578=)
c.4551A>T (p.Leu1517=)
c.4410A>T (p.Leu1470=)
2g.86030241T>CCA427147026POLR1Ac.4734A>G (p.Leu1578=)
c.4551A>G (p.Leu1517=)
c.4410A>G (p.Leu1470=)
 dbSNP gnomAD v2 gnomAD v4
2g.86030241T>GCA427147025POLR1Ac.4734A>C (p.Leu1578=)
c.4551A>C (p.Leu1517=)
c.4410A>C (p.Leu1470=)
2g.86030241T=CA1267041294POLR1Ac.4734A= (p.Leu1578=)
c.4551A= (p.Leu1517=)
c.4410A= (p.Leu1470=)
2g.86030242A>CCA347545334POLR1Ac.4733T>G (p.Leu1578Arg)
c.4550T>G (p.Leu1517Arg)
c.4409T>G (p.Leu1470Arg)
2g.86030242A>GCA347545335POLR1Ac.4733T>C (p.Leu1578Pro)
c.4550T>C (p.Leu1517Pro)
c.4409T>C (p.Leu1470Pro)
2g.86030242A>TCA347545336POLR1Ac.4733T>A (p.Leu1578Gln)
c.4550T>A (p.Leu1517Gln)
c.4409T>A (p.Leu1470Gln)
2g.86030243G>ACA427147031POLR1Ac.4732C>T (p.Leu1578=)
c.4549C>T (p.Leu1517=)
c.4408C>T (p.Leu1470=)
2g.86030243G>CCA347545337POLR1Ac.4732C>G (p.Leu1578Val)
c.4549C>G (p.Leu1517Val)
c.4408C>G (p.Leu1470Val)
2g.86030243G>TCA347545338POLR1Ac.4732C>A (p.Leu1578Ile)
c.4549C>A (p.Leu1517Ile)
c.4408C>A (p.Leu1470Ile)
2g.86030244C>ACA427147033POLR1Ac.4731G>T (p.Val1577=)
c.4548G>T (p.Val1516=)
c.4407G>T (p.Val1469=)
2g.86030244C>GCA427147035POLR1Ac.4731G>C (p.Val1577=)
c.4548G>C (p.Val1516=)
c.4407G>C (p.Val1469=)
2g.86030244C>TCA427147036POLR1Ac.4731G>A (p.Val1577=)
c.4548G>A (p.Val1516=)
c.4407G>A (p.Val1469=)

Number of alleles fetched