Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.45407121A=CA2338417216POLR1Gc.50A= (p.Asn17=)
c.56A= (p.Asn19=)
c.20+403A=
c.-485A= (n.-485A=)
19g.45407121A>CCA308937455POLR1Gc.50A>C (p.Asn17Thr)
c.56A>C (p.Asn19Thr)
c.20+403A>C
c.-485A>C (n.-485A>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.45407121A>GCA406345278POLR1Gc.50A>G (p.Asn17Ser)
c.56A>G (p.Asn19Ser)
c.20+403A>G
c.-485A>G (n.-485A>G)
 gnomAD v4
19g.45407121A>TCA406345277POLR1Gc.50A>T (p.Asn17Ile)
c.56A>T (p.Asn19Ile)
c.20+403A>T
c.-485A>T (n.-485A>T)
19g.45407122C>ACA406345279POLR1Gc.51C>A (p.Asn17Lys)
c.57C>A (p.Asn19Lys)
c.20+404C>A
c.-484C>A (n.-484C>A)
19g.45407122C>GCA406345280POLR1Gc.51C>G (p.Asn17Lys)
c.57C>G (p.Asn19Lys)
c.20+404C>G
c.-484C>G (n.-484C>G)
19g.45407122C>TCA507815751POLR1Gc.51C>T (p.Asn17=)
c.57C>T (p.Asn19=)
c.20+404C>T
c.-484C>T (n.-484C>T)
19g.45407123T>ACA406345281POLR1Gc.52T>A (p.Phe18Ile)
c.58T>A (p.Phe20Ile)
c.20+405T>A
c.-483T>A (n.-483T>A)
19g.45407123T>CCA406345282POLR1Gc.52T>C (p.Phe18Leu)
c.58T>C (p.Phe20Leu)
c.20+405T>C
c.-483T>C (n.-483T>C)
 dbSNP gnomAD v4
19g.45407123T>GCA406345283POLR1Gc.52T>G (p.Phe18Val)
c.58T>G (p.Phe20Val)
c.20+405T>G
c.-483T>G (n.-483T>G)
19g.45407123T=CA2338417217POLR1Gc.52T= (p.Phe18=)
c.58T= (p.Phe20=)
c.20+405T=
c.-483T= (n.-483T=)
19g.45407124T>ACA406345284POLR1Gc.53T>A (p.Phe18Tyr)
c.59T>A (p.Phe20Tyr)
c.20+406T>A
c.-482T>A (n.-482T>A)
19g.45407124T>CCA406345285POLR1Gc.53T>C (p.Phe18Ser)
c.59T>C (p.Phe20Ser)
c.20+406T>C
c.-482T>C (n.-482T>C)
19g.45407124T>GCA406345286POLR1Gc.53T>G (p.Phe18Cys)
c.59T>G (p.Phe20Cys)
c.20+406T>G
c.-482T>G (n.-482T>G)
19g.45407125T>ACA406345287POLR1Gc.54T>A (p.Phe18Leu)
c.60T>A (p.Phe20Leu)
c.20+407T>A
c.-481T>A (n.-481T>A)
19g.45407125T>CCA308937460POLR1Gc.54T>C (p.Phe18=)
c.60T>C (p.Phe20=)
c.20+407T>C
c.-481T>C (n.-481T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
19g.45407125T>GCA406345288POLR1Gc.54T>G (p.Phe18Leu)
c.60T>G (p.Phe20Leu)
c.20+407T>G
c.-481T>G (n.-481T>G)
19g.45407125T=CA2338417218POLR1Gc.54T= (p.Phe18=)
c.60T= (p.Phe20=)
c.20+407T=
c.-481T= (n.-481T=)
19g.45407126delCA2585795798POLR1Gc.55del (p.Thr19ProfsTer17)
c.61del (p.Thr21ProfsTer17)
c.20+408del
c.-480del (n.-480del)
 gnomAD v4
19g.45407126A=CA2338417219POLR1Gc.55A= (p.Thr19=)
c.61A= (p.Thr21=)
c.20+408A=
c.-480A= (n.-480A=)
19g.45407126A>CCA406345289POLR1Gc.55A>C (p.Thr19Pro)
c.61A>C (p.Thr21Pro)
c.20+408A>C
c.-480A>C (n.-480A>C)
19g.45407126A>GCA406345290POLR1Gc.55A>G (p.Thr19Ala)
c.61A>G (p.Thr21Ala)
c.20+408A>G
c.-480A>G (n.-480A>G)
 dbSNP
19g.45407126A>TCA406345291POLR1Gc.55A>T (p.Thr19Ser)
c.61A>T (p.Thr21Ser)
c.20+408A>T
c.-480A>T (n.-480A>T)
19g.45407127C>ACA406345293POLR1Gc.56C>A (p.Thr19Asn)
c.62C>A (p.Thr21Asn)
c.20+409C>A
c.-479C>A (n.-479C>A)
19g.45407127C>GCA406345294POLR1Gc.56C>G (p.Thr19Ser)
c.62C>G (p.Thr21Ser)
c.20+409C>G
c.-479C>G (n.-479C>G)
19g.45407127C>TCA406345292POLR1Gc.56C>T (p.Thr19Ile)
c.62C>T (p.Thr21Ile)
c.20+409C>T
c.-479C>T (n.-479C>T)
19g.45407128C>ACA507815779POLR1Gc.57C>A (p.Thr19=)
c.63C>A (p.Thr21=)
c.20+410C>A
c.-478C>A (n.-478C>A)
19g.45407128C=CA2338417220POLR1Gc.57C= (p.Thr19=)
c.63C= (p.Thr21=)
c.20+410C=
c.-478C= (n.-478C=)
19g.45407128C>GCA9514874POLR1Gc.57C>G (p.Thr19=)
c.63C>G (p.Thr21=)
c.20+410C>G
c.-478C>G (n.-478C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407128C>TCA507815784POLR1Gc.57C>T (p.Thr19=)
c.63C>T (p.Thr21=)
c.20+410C>T
c.-478C>T (n.-478C>T)
 dbSNP gnomAD v3 gnomAD v4
19g.45407129G>ACA406345296POLR1Gc.58G>A (p.Ala20Thr)
c.64G>A (p.Ala22Thr)
c.20+411G>A
c.-477G>A (n.-477G>A)
19g.45407129G>CCA406345295POLR1Gc.58G>C (p.Ala20Pro)
c.64G>C (p.Ala22Pro)
c.20+411G>C
c.-477G>C (n.-477G>C)
19g.45407129G=CA2338417221POLR1Gc.58G= (p.Ala20=)
c.64G= (p.Ala22=)
c.20+411G=
c.-477G= (n.-477G=)
19g.45407129G>TCA406345297POLR1Gc.58G>T (p.Ala20Ser)
c.64G>T (p.Ala22Ser)
c.20+411G>T
c.-477G>T (n.-477G>T)
 dbSNP gnomAD v4
19g.45407130C>ACA406345298POLR1Gc.59C>A (p.Ala20Glu)
c.65C>A (p.Ala22Glu)
c.20+412C>A
c.-476C>A (n.-476C>A)
19g.45407130C>GCA406345300POLR1Gc.59C>G (p.Ala20Gly)
c.65C>G (p.Ala22Gly)
c.20+412C>G
c.-476C>G (n.-476C>G)
19g.45407130C>TCA406345299POLR1Gc.59C>T (p.Ala20Val)
c.65C>T (p.Ala22Val)
c.20+412C>T
c.-476C>T (n.-476C>T)
 gnomAD v4
19g.45407131G>ACA507815797POLR1Gc.60G>A (p.Ala20=)
c.66G>A (p.Ala22=)
c.20+413G>A
c.-475G>A (n.-475G>A)
19g.45407131G>CCA507815801POLR1Gc.60G>C (p.Ala20=)
c.66G>C (p.Ala22=)
c.20+413G>C
c.-475G>C (n.-475G>C)
19g.45407131G>TCA507815798POLR1Gc.60G>T (p.Ala20=)
c.66G>T (p.Ala22=)
c.20+413G>T
c.-475G>T (n.-475G>T)
19g.45407132A>CCA406345301POLR1Gc.61A>C (p.Lys21Gln)
c.67A>C (p.Lys23Gln)
c.20+414A>C
c.-474A>C (n.-474A>C)
19g.45407132A>GCA406345302POLR1Gc.61A>G (p.Lys21Glu)
c.67A>G (p.Lys23Glu)
c.20+414A>G
c.-474A>G (n.-474A>G)
19g.45407132A>TCA406345303POLR1Gc.61A>T (p.Lys21Ter)
c.67A>T (p.Lys23Ter)
c.20+414A>T
c.-474A>T (n.-474A>T)
19g.45407133A=CA2338417222POLR1Gc.62A= (p.Lys21=)
c.68A= (p.Lys23=)
c.20+415A=
c.-473A= (n.-473A=)
19g.45407133A>CCA406345304POLR1Gc.62A>C (p.Lys21Thr)
c.68A>C (p.Lys23Thr)
c.20+415A>C
c.-473A>C (n.-473A>C)
19g.45407133A>GCA9514875POLR1Gc.62A>G (p.Lys21Arg)
c.68A>G (p.Lys23Arg)
c.20+415A>G
c.-473A>G (n.-473A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407133A>TCA406345305POLR1Gc.62A>T (p.Lys21Met)
c.68A>T (p.Lys23Met)
c.20+415A>T
c.-473A>T (n.-473A>T)
19g.45407134G>ACA507815821POLR1Gc.63G>A (p.Lys21=)
c.69G>A (p.Lys23=)
c.20+416G>A
c.-472G>A (n.-472G>A)
19g.45407134G>CCA406345306POLR1Gc.63G>C (p.Lys21Asn)
c.69G>C (p.Lys23Asn)
c.20+416G>C
c.-472G>C (n.-472G>C)
19g.45407134G>TCA406345307POLR1Gc.63G>T (p.Lys21Asn)
c.69G>T (p.Lys23Asn)
c.20+416G>T
c.-472G>T (n.-472G>T)
19g.45407135C>ACA406345308POLR1Gc.64C>A (p.Pro22Thr)
c.70C>A (p.Pro24Thr)
c.20+417C>A
c.-471C>A (n.-471C>A)
19g.45407135C=CA2338417223POLR1Gc.64C= (p.Pro22=)
c.70C= (p.Pro24=)
c.20+417C=
c.-471C= (n.-471C=)
19g.45407135C>GCA406345309POLR1Gc.64C>G (p.Pro22Ala)
c.70C>G (p.Pro24Ala)
c.20+417C>G
c.-471C>G (n.-471C>G)
 ClinVar
19g.45407135C>TCA406345310POLR1Gc.64C>T (p.Pro22Ser)
c.70C>T (p.Pro24Ser)
c.20+417C>T
c.-471C>T (n.-471C>T)
 dbSNP gnomAD v2
19g.45407139delCA2585795799POLR1Gc.68del (p.Pro23GlnfsTer13)
c.74del (p.Pro25GlnfsTer13)
c.20+421del
c.-467del (n.-467del)
 gnomAD v4
19g.45407136C>ACA406345312POLR1Gc.65C>A (p.Pro22His)
c.71C>A (p.Pro24His)
c.20+418C>A
c.-470C>A (n.-470C>A)
19g.45407136C=CA2338417224POLR1Gc.65C= (p.Pro22=)
c.71C= (p.Pro24=)
c.20+418C=
c.-470C= (n.-470C=)
19g.45407136C>GCA9514876POLR1Gc.65C>G (p.Pro22Arg)
c.71C>G (p.Pro24Arg)
c.20+418C>G
c.-470C>G (n.-470C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407136C>TCA406345311POLR1Gc.65C>T (p.Pro22Leu)
c.71C>T (p.Pro24Leu)
c.20+418C>T
c.-470C>T (n.-470C>T)
 gnomAD v4
19g.45407137C>ACA507815850POLR1Gc.66C>A (p.Pro22=)
c.72C>A (p.Pro24=)
c.20+419C>A
c.-469C>A (n.-469C>A)
19g.45407137C=CA2338417225POLR1Gc.66C= (p.Pro22=)
c.72C= (p.Pro24=)
c.20+419C=
c.-469C= (n.-469C=)
19g.45407137C>GCA507815853POLR1Gc.66C>G (p.Pro22=)
c.72C>G (p.Pro24=)
c.20+419C>G
c.-469C>G (n.-469C>G)
19g.45407137C>TCA9514877POLR1Gc.66C>T (p.Pro22=)
c.72C>T (p.Pro24=)
c.20+419C>T
c.-469C>T (n.-469C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407138C>ACA406345313POLR1Gc.67C>A (p.Pro23Thr)
c.73C>A (p.Pro25Thr)
c.20+420C>A
c.-468C>A (n.-468C>A)
19g.45407138C=CA2338417226POLR1Gc.67C= (p.Pro23=)
c.73C= (p.Pro25=)
c.20+420C=
c.-468C= (n.-468C=)
19g.45407138C>GCA406345314POLR1Gc.67C>G (p.Pro23Ala)
c.73C>G (p.Pro25Ala)
c.20+420C>G
c.-468C>G (n.-468C>G)
19g.45407138C>TCA406345315POLR1Gc.67C>T (p.Pro23Ser)
c.73C>T (p.Pro25Ser)
c.20+420C>T
c.-468C>T (n.-468C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407139C>ACA406345316POLR1Gc.68C>A (p.Pro23Gln)
c.74C>A (p.Pro25Gln)
c.20+421C>A
c.-467C>A (n.-467C>A)
19g.45407139C>GCA406345317POLR1Gc.68C>G (p.Pro23Arg)
c.74C>G (p.Pro25Arg)
c.20+421C>G
c.-467C>G (n.-467C>G)
19g.45407139C>TCA406345318POLR1Gc.68C>T (p.Pro23Leu)
c.74C>T (p.Pro25Leu)
c.20+421C>T
c.-467C>T (n.-467C>T)
 gnomAD v4
19g.45407140A>CCA507815877POLR1Gc.69A>C (p.Pro23=)
c.75A>C (p.Pro25=)
c.20+422A>C
c.-466A>C (n.-466A>C)
19g.45407140A>GCA507815873POLR1Gc.69A>G (p.Pro23=)
c.75A>G (p.Pro25=)
c.20+422A>G
c.-466A>G (n.-466A>G)
19g.45407140A>TCA507815874POLR1Gc.69A>T (p.Pro23=)
c.75A>T (p.Pro25=)
c.20+422A>T
c.-466A>T (n.-466A>T)
19g.45407141G>ACA406345319POLR1Gc.70G>A (p.Ala24Thr)
c.76G>A (p.Ala26Thr)
c.20+423G>A
c.-465G>A (n.-465G>A)
 gnomAD v4
19g.45407141G>CCA406345320POLR1Gc.70G>C (p.Ala24Pro)
c.76G>C (p.Ala26Pro)
c.20+423G>C
c.-465G>C (n.-465G>C)
19g.45407141G>TCA406345321POLR1Gc.70G>T (p.Ala24Ser)
c.76G>T (p.Ala26Ser)
c.20+423G>T
c.-465G>T (n.-465G>T)
19g.45407142C>ACA406345323POLR1Gc.71C>A (p.Ala24Asp)
c.77C>A (p.Ala26Asp)
c.20+424C>A
c.-464C>A (n.-464C>A)
 gnomAD v4
19g.45407142C>GCA406345324POLR1Gc.71C>G (p.Ala24Gly)
c.77C>G (p.Ala26Gly)
c.20+424C>G
c.-464C>G (n.-464C>G)
 gnomAD v4
19g.45407142C>TCA406345322POLR1Gc.71C>T (p.Ala24Val)
c.77C>T (p.Ala26Val)
c.20+424C>T
c.-464C>T (n.-464C>T)
 dbSNP gnomAD v4
19g.45407143C>ACA507815900POLR1Gc.72C>A (p.Ala24=)
c.78C>A (p.Ala26=)
c.20+425C>A
c.-463C>A (n.-463C>A)
19g.45407143C>GCA507815903POLR1Gc.72C>G (p.Ala24=)
c.78C>G (p.Ala26=)
c.20+425C>G
c.-463C>G (n.-463C>G)
19g.45407143C>TCA507815907POLR1Gc.72C>T (p.Ala24=)
c.78C>T (p.Ala26=)
c.20+425C>T
c.-463C>T (n.-463C>T)
19g.45407144T>ACA406345325POLR1Gc.73T>A (p.Ser25Thr)
c.79T>A (p.Ser27Thr)
c.20+426T>A
c.-462T>A (n.-462T>A)
19g.45407144T>CCA406345326POLR1Gc.73T>C (p.Ser25Pro)
c.79T>C (p.Ser27Pro)
c.20+426T>C
c.-462T>C (n.-462T>C)
19g.45407144T>GCA406345327POLR1Gc.73T>G (p.Ser25Ala)
c.79T>G (p.Ser27Ala)
c.20+426T>G
c.-462T>G (n.-462T>G)
 gnomAD v4
19g.45407145C>ACA406345328POLR1Gc.74C>A (p.Ser25Ter)
c.80C>A (p.Ser27Ter)
c.20+427C>A
c.-461C>A (n.-461C>A)
19g.45407145C=CA2338417227POLR1Gc.74C= (p.Ser25=)
c.80C= (p.Ser27=)
c.20+427C=
c.-461C= (n.-461C=)
19g.45407145C>GCA406345329POLR1Gc.74C>G (p.Ser25Ter)
c.80C>G (p.Ser27Ter)
c.20+427C>G
c.-461C>G (n.-461C>G)
19g.45407145C>TCA406345330POLR1Gc.74C>T (p.Ser25Leu)
c.80C>T (p.Ser27Leu)
c.20+427C>T
c.-461C>T (n.-461C>T)
 gnomAD v4
19g.45407146A>CCA507815930POLR1Gc.75A>C (p.Ser25=)
c.81A>C (p.Ser27=)
c.20+428A>C
c.-460A>C (n.-460A>C)
19g.45407146A>GCA507815932POLR1Gc.75A>G (p.Ser25=)
c.81A>G (p.Ser27=)
c.20+428A>G
c.-460A>G (n.-460A>G)
19g.45407146A>TCA507815935POLR1Gc.75A>T (p.Ser25=)
c.81A>T (p.Ser27=)
c.20+428A>T
c.-460A>T (n.-460A>T)
 gnomAD v4
19g.45407146dupCA9514878POLR1Gc.75dup (p.Glu26ArgfsTer?)
c.81dup (p.Glu28ArgfsTer?)
c.20+428dup
c.-460dup (n.-460dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407147G>ACA406345331POLR1Gc.76G>A (p.Glu26Lys)
c.82G>A (p.Glu28Lys)
c.20+429G>A
c.-459G>A (n.-459G>A)
19g.45407147G>CCA9514879POLR1Gc.76G>C (p.Glu26Gln)
c.82G>C (p.Glu28Gln)
c.20+429G>C
c.-459G>C (n.-459G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407147G=CA2338417228POLR1Gc.76G= (p.Glu26=)
c.82G= (p.Glu28=)
c.20+429G=
c.-459G= (n.-459G=)
19g.45407147G>TCA406345332POLR1Gc.76G>T (p.Glu26Ter)
c.82G>T (p.Glu28Ter)
c.20+429G>T
c.-459G>T (n.-459G>T)
19g.45407148A>CCA406345333POLR1Gc.77A>C (p.Glu26Ala)
c.83A>C (p.Glu28Ala)
c.20+430A>C
c.-458A>C (n.-458A>C)
19g.45407148A>GCA406345334POLR1Gc.77A>G (p.Glu26Gly)
c.83A>G (p.Glu28Gly)
c.20+430A>G
c.-458A>G (n.-458A>G)
19g.45407148A>TCA406345335POLR1Gc.77A>T (p.Glu26Val)
c.83A>T (p.Glu28Val)
c.20+430A>T
c.-458A>T (n.-458A>T)
19g.45407149G>ACA507815957POLR1Gc.78G>A (p.Glu26=)
c.84G>A (p.Glu28=)
c.20+431G>A
c.-457G>A (n.-457G>A)
19g.45407149G>CCA406345336POLR1Gc.78G>C (p.Glu26Asp)
c.84G>C (p.Glu28Asp)
c.20+431G>C
c.-457G>C (n.-457G>C)
19g.45407149G>TCA406345337POLR1Gc.78G>T (p.Glu26Asp)
c.84G>T (p.Glu28Asp)
c.20+431G>T
c.-457G>T (n.-457G>T)
19g.45407150T>ACA406345338POLR1Gc.79T>A (p.Ser27Thr)
c.85T>A (p.Ser29Thr)
c.20+432T>A
c.-456T>A (n.-456T>A)
19g.45407150T>CCA406345339POLR1Gc.79T>C (p.Ser27Pro)
c.85T>C (p.Ser29Pro)
c.20+432T>C
c.-456T>C (n.-456T>C)
 gnomAD v4
19g.45407150T>GCA406345340POLR1Gc.79T>G (p.Ser27Ala)
c.85T>G (p.Ser29Ala)
c.20+432T>G
c.-456T>G (n.-456T>G)
19g.45407151C>ACA406345341POLR1Gc.80C>A (p.Ser27Tyr)
c.86C>A (p.Ser29Tyr)
c.20+433C>A
c.-455C>A (n.-455C>A)
19g.45407151C=CA2338417229POLR1Gc.80C= (p.Ser27=)
c.86C= (p.Ser29=)
c.20+433C=
c.-455C= (n.-455C=)
19g.45407151C>GCA406345342POLR1Gc.80C>G (p.Ser27Cys)
c.86C>G (p.Ser29Cys)
c.20+433C>G
c.-455C>G (n.-455C>G)
19g.45407151C>TCA406345343POLR1Gc.80C>T (p.Ser27Phe)
c.86C>T (p.Ser29Phe)
c.20+433C>T
c.-455C>T (n.-455C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407152C>ACA507815981POLR1Gc.81C>A (p.Ser27=)
c.87C>A (p.Ser29=)
c.20+434C>A
c.-454C>A (n.-454C>A)
19g.45407152C=CA2338417230POLR1Gc.81C= (p.Ser27=)
c.87C= (p.Ser29=)
c.20+434C=
c.-454C= (n.-454C=)
19g.45407152C>GCA507815982POLR1Gc.81C>G (p.Ser27=)
c.87C>G (p.Ser29=)
c.20+434C>G
c.-454C>G (n.-454C>G)
19g.45407152C>TCA9514880POLR1Gc.81C>T (p.Ser27=)
c.87C>T (p.Ser29=)
c.20+434C>T
c.-454C>T (n.-454C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407152_45407155delinsCCCTCA2338417231POLR1Gc.81_84delinsCCCT (p.Ser27=)
c.87_90delinsCCCT (p.Ser29=)
c.20+434_20+437delinsCCCT
c.-454_-451delinsCCCT (n.-454_-451delinsCCCT)
19g.45407153C>ACA406345344POLR1Gc.82C>A (p.Pro28Thr)
c.88C>A (p.Pro30Thr)
c.20+435C>A
c.-453C>A (n.-453C>A)
19g.45407153C>GCA406345345POLR1Gc.82C>G (p.Pro28Ala)
c.88C>G (p.Pro30Ala)
c.20+435C>G
c.-453C>G (n.-453C>G)
19g.45407153C>TCA406345346POLR1Gc.82C>T (p.Pro28Ser)
c.88C>T (p.Pro30Ser)
c.20+435C>T
c.-453C>T (n.-453C>T)
 COSMIC
19g.45407154_45407156delCA996308583POLR1Gc.83_85del (p.Pro28del)
c.89_91del (p.Pro30del)
c.20+436_20+438del
c.-452_-450del (n.-452_-450del)
 dbSNP gnomAD v3 gnomAD v4
19g.45407154C>ACA406345347POLR1Gc.83C>A (p.Pro28His)
c.89C>A (p.Pro30His)
c.20+436C>A
c.-452C>A (n.-452C>A)
19g.45407154C>GCA406345348POLR1Gc.83C>G (p.Pro28Arg)
c.89C>G (p.Pro30Arg)
c.20+436C>G
c.-452C>G (n.-452C>G)
19g.45407154C>TCA406345349POLR1Gc.83C>T (p.Pro28Leu)
c.89C>T (p.Pro30Leu)
c.20+436C>T
c.-452C>T (n.-452C>T)
19g.45407155T>ACA507815997POLR1Gc.84T>A (p.Pro28=)
c.90T>A (p.Pro30=)
c.20+437T>A
c.-451T>A (n.-451T>A)
19g.45407155T>CCA507816004POLR1Gc.84T>C (p.Pro28=)
c.90T>C (p.Pro30=)
c.20+437T>C
c.-451T>C (n.-451T>C)
19g.45407155T>GCA507815994POLR1Gc.84T>G (p.Pro28=)
c.90T>G (p.Pro30=)
c.20+437T>G
c.-451T>G (n.-451T>G)
19g.45407156C>ACA308937481POLR1Gc.85C>A (p.Arg29Ser)
c.91C>A (p.Arg31Ser)
c.20+438C>A
c.-450C>A (n.-450C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45407156C=CA2338417232POLR1Gc.85C= (p.Arg29=)
c.91C= (p.Arg31=)
c.20+438C=
c.-450C= (n.-450C=)
19g.45407156C>GCA406345351POLR1Gc.85C>G (p.Arg29Gly)
c.91C>G (p.Arg31Gly)
c.20+438C>G
c.-450C>G (n.-450C>G)
19g.45407156C>TCA406345350POLR1Gc.85C>T (p.Arg29Cys)
c.91C>T (p.Arg31Cys)
c.20+438C>T
c.-450C>T (n.-450C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407157G>ACA406345354POLR1Gc.86G>A (p.Arg29His)
c.92G>A (p.Arg31His)
c.20+439G>A
c.-449G>A (n.-449G>A)
19g.45407157G>CCA406345352POLR1Gc.86G>C (p.Arg29Pro)
c.92G>C (p.Arg31Pro)
c.20+439G>C
c.-449G>C (n.-449G>C)
 gnomAD v4
19g.45407157G>TCA406345353POLR1Gc.86G>T (p.Arg29Leu)
c.92G>T (p.Arg31Leu)
c.20+439G>T
c.-449G>T (n.-449G>T)
19g.45407158T>ACA507816016POLR1Gc.87T>A (p.Arg29=)
c.93T>A (p.Arg31=)
c.20+440T>A
c.-448T>A (n.-448T>A)
19g.45407158T>CCA507816018POLR1Gc.87T>C (p.Arg29=)
c.93T>C (p.Arg31=)
c.20+440T>C
c.-448T>C (n.-448T>C)
19g.45407158T>GCA9514881POLR1Gc.87T>G (p.Arg29=)
c.93T>G (p.Arg31=)
c.20+440T>G
c.-448T>G (n.-448T>G)
 dbSNP ExAC
19g.45407158T=CA2338417233POLR1Gc.87T= (p.Arg29=)
c.93T= (p.Arg31=)
c.20+440T=
c.-448T= (n.-448T=)
19g.45407159T>ACA406345355POLR1Gc.88T>A (p.Phe30Ile)
c.94T>A (p.Phe32Ile)
c.20+441T>A
c.-447T>A (n.-447T>A)
19g.45407159T>CCA406345356POLR1Gc.88T>C (p.Phe30Leu)
c.94T>C (p.Phe32Leu)
c.20+441T>C
c.-447T>C (n.-447T>C)
19g.45407159T>GCA406345357POLR1Gc.88T>G (p.Phe30Val)
c.94T>G (p.Phe32Val)
c.20+441T>G
c.-447T>G (n.-447T>G)
19g.45407160T>ACA406345358POLR1Gc.89T>A (p.Phe30Tyr)
c.95T>A (p.Phe32Tyr)
c.20+442T>A
c.-446T>A (n.-446T>A)
19g.45407160T>CCA406345359POLR1Gc.89T>C (p.Phe30Ser)
c.95T>C (p.Phe32Ser)
c.20+442T>C
c.-446T>C (n.-446T>C)
19g.45407160T>GCA406345360POLR1Gc.89T>G (p.Phe30Cys)
c.95T>G (p.Phe32Cys)
c.20+442T>G
c.-446T>G (n.-446T>G)
19g.45407161C>ACA406345361POLR1Gc.90C>A (p.Phe30Leu)
c.96C>A (p.Phe32Leu)
c.20+443C>A
c.-445C>A (n.-445C>A)
19g.45407161C=CA2338417234POLR1Gc.90C= (p.Phe30=)
c.96C= (p.Phe32=)
c.20+443C=
c.-445C= (n.-445C=)
19g.45407161C>GCA406345362POLR1Gc.90C>G (p.Phe30Leu)
c.96C>G (p.Phe32Leu)
c.20+443C>G
c.-445C>G (n.-445C>G)
 dbSNP
19g.45407161C>TCA507816037POLR1Gc.90C>T (p.Phe30=)
c.96C>T (p.Phe32=)
c.20+443C>T
c.-445C>T (n.-445C>T)
 gnomAD v4
19g.45407162T>ACA406345365POLR1Gc.91T>A (p.Ser31Thr)
c.97T>A (p.Ser33Thr)
c.20+444T>A
c.-444T>A (n.-444T>A)
19g.45407162T>CCA406345364POLR1Gc.91T>C (p.Ser31Pro)
c.97T>C (p.Ser33Pro)
c.20+444T>C
c.-444T>C (n.-444T>C)
19g.45407162T>GCA406345363POLR1Gc.91T>G (p.Ser31Ala)
c.97T>G (p.Ser33Ala)
c.20+444T>G
c.-444T>G (n.-444T>G)
19g.45407163C>ACA406345366POLR1Gc.92C>A (p.Ser31Tyr)
c.98C>A (p.Ser33Tyr)
c.20+445C>A
c.-443C>A (n.-443C>A)
19g.45407163C=CA2338417235POLR1Gc.92C= (p.Ser31=)
c.98C= (p.Ser33=)
c.20+445C=
c.-443C= (n.-443C=)
19g.45407163C>GCA406345367POLR1Gc.92C>G (p.Ser31Cys)
c.98C>G (p.Ser33Cys)
c.20+445C>G
c.-443C>G (n.-443C>G)
19g.45407163C>TCA9514882POLR1Gc.92C>T (p.Ser31Phe)
c.98C>T (p.Ser33Phe)
c.20+445C>T
c.-443C>T (n.-443C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407164C>ACA507816048POLR1Gc.93C>A (p.Ser31=)
c.99C>A (p.Ser33=)
c.20+446C>A
c.-442C>A (n.-442C>A)
 gnomAD v4
19g.45407164C>GCA507816050POLR1Gc.93C>G (p.Ser31=)
c.99C>G (p.Ser33=)
c.20+446C>G
c.-442C>G (n.-442C>G)
19g.45407164C>TCA507816051POLR1Gc.93C>T (p.Ser31=)
c.99C>T (p.Ser33=)
c.20+446C>T
c.-442C>T (n.-442C>T)
19g.45407165T>ACA406345368POLR1Gc.94T>A (p.Leu32Met)
c.100T>A (p.Leu34Met)
c.20+447T>A
c.-441T>A (n.-441T>A)
19g.45407165T>CCA507816057POLR1Gc.94T>C (p.Leu32=)
c.100T>C (p.Leu34=)
c.20+447T>C
c.-441T>C (n.-441T>C)
 gnomAD v4
19g.45407165T>GCA406345369POLR1Gc.94T>G (p.Leu32Val)
c.100T>G (p.Leu34Val)
c.20+447T>G
c.-441T>G (n.-441T>G)
19g.45407166T>ACA406345370POLR1Gc.95T>A (p.Leu32Ter)
c.101T>A (p.Leu34Ter)
c.20+448T>A
c.-440T>A (n.-440T>A)
19g.45407166T>CCA406345371POLR1Gc.95T>C (p.Leu32Ser)
c.101T>C (p.Leu34Ser)
c.20+448T>C
c.-440T>C (n.-440T>C)
 gnomAD v4
19g.45407166T>GCA406345372POLR1Gc.95T>G (p.Leu32Trp)
c.101T>G (p.Leu34Trp)
c.20+448T>G
c.-440T>G (n.-440T>G)
19g.45407167G>ACA507816070POLR1Gc.96G>A (p.Leu32=)
c.102G>A (p.Leu34=)
c.20+449G>A
c.-439G>A (n.-439G>A)
 dbSNP
19g.45407167G>CCA406345373POLR1Gc.96G>C (p.Leu32Phe)
c.102G>C (p.Leu34Phe)
c.20+449G>C
c.-439G>C (n.-439G>C)
19g.45407167G=CA2338417236POLR1Gc.96G= (p.Leu32=)
c.102G= (p.Leu34=)
c.20+449G=
c.-439G= (n.-439G=)
19g.45407167G>TCA406345374POLR1Gc.96G>T (p.Leu32Phe)
c.102G>T (p.Leu34Phe)
c.20+449G>T
c.-439G>T (n.-439G>T)
19g.45407168G>ACA406345375POLR1Gc.97G>A (p.Glu33Lys)
c.103G>A (p.Glu35Lys)
c.20+450G>A
c.-438G>A (n.-438G>A)
 COSMIC
19g.45407168G>CCA406345376POLR1Gc.97G>C (p.Glu33Gln)
c.103G>C (p.Glu35Gln)
c.20+450G>C
c.-438G>C (n.-438G>C)
19g.45407168G>TCA406345377POLR1Gc.97G>T (p.Glu33Ter)
c.103G>T (p.Glu35Ter)
c.20+450G>T
c.-438G>T (n.-438G>T)
19g.45407169A>CCA406345379POLR1Gc.98A>C (p.Glu33Ala)
c.104A>C (p.Glu35Ala)
c.20+451A>C
c.-437A>C (n.-437A>C)
19g.45407169A>GCA406345380POLR1Gc.98A>G (p.Glu33Gly)
c.104A>G (p.Glu35Gly)
c.20+451A>G
c.-437A>G (n.-437A>G)
 gnomAD v4
19g.45407169A>TCA406345378POLR1Gc.98A>T (p.Glu33Val)
c.104A>T (p.Glu35Val)
c.20+451A>T
c.-437A>T (n.-437A>T)
19g.45407170G>ACA507816084POLR1Gc.99G>A (p.Glu33=)
c.105G>A (p.Glu35=)
c.20+452G>A
c.-436G>A (n.-436G>A)
19g.45407170G>CCA406345381POLR1Gc.99G>C (p.Glu33Asp)
c.105G>C (p.Glu35Asp)
c.20+452G>C
c.-436G>C (n.-436G>C)
19g.45407170G>TCA406345382POLR1Gc.99G>T (p.Glu33Asp)
c.105G>T (p.Glu35Asp)
c.20+452G>T
c.-436G>T (n.-436G>T)
19g.45407171G>ACA406345383POLR1Gc.100G>A (p.Ala34Thr)
c.106G>A (p.Ala36Thr)
c.20+453G>A
c.-435G>A (n.-435G>A)
19g.45407171G>CCA406345384POLR1Gc.100G>C (p.Ala34Pro)
c.106G>C (p.Ala36Pro)
c.20+453G>C
c.-435G>C (n.-435G>C)
19g.45407171G>TCA406345385POLR1Gc.100G>T (p.Ala34Ser)
c.106G>T (p.Ala36Ser)
c.20+453G>T
c.-435G>T (n.-435G>T)
19g.45407172C>ACA406345386POLR1Gc.101C>A (p.Ala34Glu)
c.107C>A (p.Ala36Glu)
c.20+454C>A
c.-434C>A (n.-434C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45407172C=CA2338417237POLR1Gc.101C= (p.Ala34=)
c.107C= (p.Ala36=)
c.20+454C=
c.-434C= (n.-434C=)
19g.45407172C>GCA406345387POLR1Gc.101C>G (p.Ala34Gly)
c.107C>G (p.Ala36Gly)
c.20+454C>G
c.-434C>G (n.-434C>G)
19g.45407172C>TCA9514883POLR1Gc.101C>T (p.Ala34Val)
c.107C>T (p.Ala36Val)
c.20+454C>T
c.-434C>T (n.-434C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407173G>ACA507816106POLR1Gc.102G>A (p.Ala34=)
c.108G>A (p.Ala36=)
c.20+455G>A
c.-433G>A (n.-433G>A)
 gnomAD v4
19g.45407173G>CCA507816109POLR1Gc.102G>C (p.Ala34=)
c.108G>C (p.Ala36=)
c.20+455G>C
c.-433G>C (n.-433G>C)
 dbSNP gnomAD v2
19g.45407173G=CA2338417238POLR1Gc.102G= (p.Ala34=)
c.108G= (p.Ala36=)
c.20+455G=
c.-433G= (n.-433G=)
19g.45407173G>TCA507816112POLR1Gc.102G>T (p.Ala34=)
c.108G>T (p.Ala36=)
c.20+455G>T
c.-433G>T (n.-433G>T)
19g.45407174C>ACA406345388POLR1Gc.103C>A (p.Leu35Met)
c.109C>A (p.Leu37Met)
c.20+456C>A
c.-432C>A (n.-432C>A)
19g.45407174C>GCA406345389POLR1Gc.103C>G (p.Leu35Val)
c.109C>G (p.Leu37Val)
c.20+456C>G
c.-432C>G (n.-432C>G)
19g.45407174C>TCA507816118POLR1Gc.103C>T (p.Leu35=)
c.109C>T (p.Leu37=)
c.20+456C>T
c.-432C>T (n.-432C>T)
19g.45407175T>ACA406345390POLR1Gc.104T>A (p.Leu35Gln)
c.110T>A (p.Leu37Gln)
c.20+457T>A
c.-431T>A (n.-431T>A)
19g.45407175T>CCA406345391POLR1Gc.104T>C (p.Leu35Pro)
c.110T>C (p.Leu37Pro)
c.20+457T>C
c.-431T>C (n.-431T>C)
19g.45407175T>GCA406345392POLR1Gc.104T>G (p.Leu35Arg)
c.110T>G (p.Leu37Arg)
c.20+457T>G
c.-431T>G (n.-431T>G)
19g.45407176G>ACA507816128POLR1Gc.105G>A (p.Leu35=)
c.111G>A (p.Leu37=)
c.20+458G>A
c.-430G>A (n.-430G>A)
19g.45407176G>CCA507816130POLR1Gc.105G>C (p.Leu35=)
c.111G>C (p.Leu37=)
c.20+458G>C
c.-430G>C (n.-430G>C)
 gnomAD v4
19g.45407176G>TCA507816133POLR1Gc.105G>T (p.Leu35=)
c.111G>T (p.Leu37=)
c.20+458G>T
c.-430G>T (n.-430G>T)
19g.45407177A>CCA406345395POLR1Gc.106A>C (p.Thr36Pro)
c.112A>C (p.Thr38Pro)
c.20+459A>C
c.-429A>C (n.-429A>C)
 gnomAD v4
19g.45407177A>GCA406345394POLR1Gc.106A>G (p.Thr36Ala)
c.112A>G (p.Thr38Ala)
c.20+459A>G
c.-429A>G (n.-429A>G)
19g.45407177A>TCA406345393POLR1Gc.106A>T (p.Thr36Ser)
c.112A>T (p.Thr38Ser)
c.20+459A>T
c.-429A>T (n.-429A>T)
19g.45407178C>ACA406345396POLR1Gc.107C>A (p.Thr36Lys)
c.113C>A (p.Thr38Lys)
c.20+460C>A
c.-428C>A (n.-428C>A)
19g.45407178C=CA2338417239POLR1Gc.107C= (p.Thr36=)
c.113C= (p.Thr38=)
c.20+460C=
c.-428C= (n.-428C=)
19g.45407178C>GCA406345397POLR1Gc.107C>G (p.Thr36Arg)
c.113C>G (p.Thr38Arg)
c.20+460C>G
c.-428C>G (n.-428C>G)
 dbSNP gnomAD v3 gnomAD v4
19g.45407178C>TCA406345398POLR1Gc.107C>T (p.Thr36Met)
c.113C>T (p.Thr38Met)
c.20+460C>T
c.-428C>T (n.-428C>T)
19g.45407179G>ACA507816153POLR1Gc.108G>A (p.Thr36=)
c.114G>A (p.Thr38=)
c.20+461G>A
c.-427G>A (n.-427G>A)
 dbSNP
19g.45407179G>CCA507816156POLR1Gc.108G>C (p.Thr36=)
c.114G>C (p.Thr38=)
c.20+461G>C
c.-427G>C (n.-427G>C)
19g.45407179G=CA2338417240POLR1Gc.108G= (p.Thr36=)
c.114G= (p.Thr38=)
c.20+461G=
c.-427G= (n.-427G=)
19g.45407179G>TCA507816158POLR1Gc.108G>T (p.Thr36=)
c.114G>T (p.Thr38=)
c.20+461G>T
c.-427G>T (n.-427G>T)
19g.45407180G>ACA406345399POLR1Gc.109G>A (p.Gly37Ser)
c.115G>A (p.Gly39Ser)
c.20+462G>A
c.-426G>A (n.-426G>A)
 gnomAD v4
19g.45407180G>CCA9514884POLR1Gc.109G>C (p.Gly37Arg)
c.115G>C (p.Gly39Arg)
c.20+462G>C
c.-426G>C (n.-426G>C)
 dbSNP ExAC
19g.45407180G=CA2338417241POLR1Gc.109G= (p.Gly37=)
c.115G= (p.Gly39=)
c.20+462G=
c.-426G= (n.-426G=)
19g.45407180G>TCA406345400POLR1Gc.109G>T (p.Gly37Cys)
c.115G>T (p.Gly39Cys)
c.20+462G>T
c.-426G>T (n.-426G>T)
19g.45407181G>ACA406345401POLR1Gc.110G>A (p.Gly37Asp)
c.116G>A (p.Gly39Asp)
c.20+463G>A
c.-425G>A (n.-425G>A)
19g.45407181G>CCA406345402POLR1Gc.110G>C (p.Gly37Ala)
c.116G>C (p.Gly39Ala)
c.20+463G>C
c.-425G>C (n.-425G>C)
19g.45407181G>TCA406345403POLR1Gc.110G>T (p.Gly37Val)
c.116G>T (p.Gly39Val)
c.20+463G>T
c.-425G>T (n.-425G>T)
19g.45407182T>ACA507816177POLR1Gc.111T>A (p.Gly37=)
c.117T>A (p.Gly39=)
c.20+464T>A
c.-424T>A (n.-424T>A)
19g.45407182T>CCA9514885POLR1Gc.111T>C (p.Gly37=)
c.117T>C (p.Gly39=)
c.20+464T>C
c.-424T>C (n.-424T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407182T>GCA507816182POLR1Gc.111T>G (p.Gly37=)
c.117T>G (p.Gly39=)
c.20+464T>G
c.-424T>G (n.-424T>G)
19g.45407182T=CA2338417242POLR1Gc.111T= (p.Gly37=)
c.117T= (p.Gly39=)
c.20+464T=
c.-424T= (n.-424T=)
19g.45407183C>ACA406345404POLR1Gc.112C>A (p.Pro38Thr)
c.118C>A (p.Pro40Thr)
c.20+465C>A
c.-423C>A (n.-423C>A)
 gnomAD v4
19g.45407183C=CA2338417243POLR1Gc.112C= (p.Pro38=)
c.118C= (p.Pro40=)
c.20+465C=
c.-423C= (n.-423C=)
19g.45407183C>GCA406345405POLR1Gc.112C>G (p.Pro38Ala)
c.118C>G (p.Pro40Ala)
c.20+465C>G
c.-423C>G (n.-423C>G)
19g.45407183C>TCA9514886POLR1Gc.112C>T (p.Pro38Ser)
c.118C>T (p.Pro40Ser)
c.20+465C>T
c.-423C>T (n.-423C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407184C>ACA406345408POLR1Gc.113C>A (p.Pro38Gln)
c.119C>A (p.Pro40Gln)
c.20+466C>A
c.-422C>A (n.-422C>A)
19g.45407184C>GCA406345407POLR1Gc.113C>G (p.Pro38Arg)
c.119C>G (p.Pro40Arg)
c.20+466C>G
c.-422C>G (n.-422C>G)
 gnomAD v4
19g.45407184C>TCA406345406POLR1Gc.113C>T (p.Pro38Leu)
c.119C>T (p.Pro40Leu)
c.20+466C>T
c.-422C>T (n.-422C>T)
19g.45407185A>CCA507816200POLR1Gc.114A>C (p.Pro38=)
c.120A>C (p.Pro40=)
c.20+467A>C
c.-421A>C (n.-421A>C)
19g.45407185A>GCA507816196POLR1Gc.114A>G (p.Pro38=)
c.120A>G (p.Pro40=)
c.20+467A>G
c.-421A>G (n.-421A>G)
19g.45407185A>TCA507816194POLR1Gc.114A>T (p.Pro38=)
c.120A>T (p.Pro40=)
c.20+467A>T
c.-421A>T (n.-421A>T)
19g.45407186G>ACA406345409POLR1Gc.115G>A (p.Asp39Asn)
c.121G>A (p.Asp41Asn)
c.20+468G>A
c.-420G>A (n.-420G>A)
19g.45407186G>CCA9514887POLR1Gc.115G>C (p.Asp39His)
c.121G>C (p.Asp41His)
c.20+468G>C
c.-420G>C (n.-420G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407186G=CA2338417244POLR1Gc.115G= (p.Asp39=)
c.121G= (p.Asp41=)
c.20+468G=
c.-420G= (n.-420G=)
19g.45407186G>TCA406345410POLR1Gc.115G>T (p.Asp39Tyr)
c.121G>T (p.Asp41Tyr)
c.20+468G>T
c.-420G>T (n.-420G>T)
19g.45407187A>CCA406345411POLR1Gc.116A>C (p.Asp39Ala)
c.122A>C (p.Asp41Ala)
c.20+469A>C
c.-419A>C (n.-419A>C)
19g.45407187A>GCA406345413POLR1Gc.116A>G (p.Asp39Gly)
c.122A>G (p.Asp41Gly)
c.20+469A>G
c.-419A>G (n.-419A>G)
19g.45407187A>TCA406345412POLR1Gc.116A>T (p.Asp39Val)
c.122A>T (p.Asp41Val)
c.20+469A>T
c.-419A>T (n.-419A>T)
19g.45407188T>ACA406345414POLR1Gc.117T>A (p.Asp39Glu)
c.123T>A (p.Asp41Glu)
c.20+470T>A
c.-418T>A (n.-418T>A)
19g.45407188T>CCA507816218POLR1Gc.117T>C (p.Asp39=)
c.123T>C (p.Asp41=)
c.20+470T>C
c.-418T>C (n.-418T>C)
19g.45407188T>GCA406345415POLR1Gc.117T>G (p.Asp39Glu)
c.123T>G (p.Asp41Glu)
c.20+470T>G
c.-418T>G (n.-418T>G)
19g.45407189A>CCA406345416POLR1Gc.118A>C (p.Thr40Pro)
c.124A>C (p.Thr42Pro)
c.20+471A>C
c.-417A>C (n.-417A>C)
19g.45407189A>GCA406345417POLR1Gc.118A>G (p.Thr40Ala)
c.124A>G (p.Thr42Ala)
c.20+471A>G
c.-417A>G (n.-417A>G)
19g.45407189A>TCA406345418POLR1Gc.118A>T (p.Thr40Ser)
c.124A>T (p.Thr42Ser)
c.20+471A>T
c.-417A>T (n.-417A>T)
19g.45407190C>ACA406345419POLR1Gc.119C>A (p.Thr40Lys)
c.125C>A (p.Thr42Lys)
c.20+472C>A
c.-416C>A (n.-416C>A)
 gnomAD v4
19g.45407190C=CA2338417245POLR1Gc.119C= (p.Thr40=)
c.125C= (p.Thr42=)
c.20+472C=
c.-416C= (n.-416C=)
19g.45407190C>GCA406345420POLR1Gc.119C>G (p.Thr40Arg)
c.125C>G (p.Thr42Arg)
c.20+472C>G
c.-416C>G (n.-416C>G)
 COSMIC
19g.45407190C>TCA406345421POLR1Gc.119C>T (p.Thr40Met)
c.125C>T (p.Thr42Met)
c.20+472C>T
c.-416C>T (n.-416C>T)
 gnomAD v4
19g.45407191G>ACA507816232POLR1Gc.120G>A (p.Thr40=)
c.126G>A (p.Thr42=)
c.20+473G>A
c.-415G>A (n.-415G>A)
19g.45407191G>CCA507816238POLR1Gc.120G>C (p.Thr40=)
c.126G>C (p.Thr42=)
c.20+473G>C
c.-415G>C (n.-415G>C)
19g.45407191G>TCA507816235POLR1Gc.120G>T (p.Thr40=)
c.126G>T (p.Thr42=)
c.20+473G>T
c.-415G>T (n.-415G>T)
19g.45407192dupCA308937506POLR1Gc.121dup (p.Glu41GlyfsTer?)
c.127dup (p.Glu43GlyfsTer?)
c.20+474dup
c.-414dup (n.-414dup)
 dbSNP
19g.45407192G>ACA406345422POLR1Gc.121G>A (p.Glu41Lys)
c.127G>A (p.Glu43Lys)
c.20+474G>A
c.-414G>A (n.-414G>A)
 dbSNP gnomAD v2 gnomAD v4
19g.45407192G>CCA406345423POLR1Gc.121G>C (p.Glu41Gln)
c.127G>C (p.Glu43Gln)
c.20+474G>C
c.-414G>C (n.-414G>C)
 gnomAD v4
19g.45407192G=CA2338417246POLR1Gc.121G= (p.Glu41=)
c.127G= (p.Glu43=)
c.20+474G=
c.-414G= (n.-414G=)
19g.45407192G>TCA406345424POLR1Gc.121G>T (p.Glu41Ter)
c.127G>T (p.Glu43Ter)
c.20+474G>T
c.-414G>T (n.-414G>T)
19g.45407193A>CCA406345427POLR1Gc.122A>C (p.Glu41Ala)
c.128A>C (p.Glu43Ala)
c.20+475A>C
c.-413A>C (n.-413A>C)
19g.45407193A>GCA406345425POLR1Gc.122A>G (p.Glu41Gly)
c.128A>G (p.Glu43Gly)
c.20+475A>G
c.-413A>G (n.-413A>G)
19g.45407193A>TCA406345426POLR1Gc.122A>T (p.Glu41Val)
c.128A>T (p.Glu43Val)
c.20+475A>T
c.-413A>T (n.-413A>T)
19g.45407194G>ACA507816251POLR1Gc.123G>A (p.Glu41=)
c.129G>A (p.Glu43=)
c.20+476G>A
c.-412G>A (n.-412G>A)
 gnomAD v4
19g.45407194G>CCA406345428POLR1Gc.123G>C (p.Glu41Asp)
c.129G>C (p.Glu43Asp)
c.20+476G>C
c.-412G>C (n.-412G>C)
19g.45407194G>TCA406345429POLR1Gc.123G>T (p.Glu41Asp)
c.129G>T (p.Glu43Asp)
c.20+476G>T
c.-412G>T (n.-412G>T)
19g.45407195C>ACA406345430POLR1Gc.124C>A (p.Leu42Met)
c.130C>A (p.Leu44Met)
c.20+477C>A
c.-411C>A (n.-411C>A)
19g.45407195C=CA2338417247POLR1Gc.124C= (p.Leu42=)
c.130C= (p.Leu44=)
c.20+477C=
c.-411C= (n.-411C=)
19g.45407195C>GCA406345431POLR1Gc.124C>G (p.Leu42Val)
c.130C>G (p.Leu44Val)
c.20+477C>G
c.-411C>G (n.-411C>G)
19g.45407195C>TCA507816260POLR1Gc.124C>T (p.Leu42=)
c.130C>T (p.Leu44=)
c.20+477C>T
c.-411C>T (n.-411C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407196T>ACA406345432POLR1Gc.125T>A (p.Leu42Gln)
c.131T>A (p.Leu44Gln)
c.20+478T>A
c.-410T>A (n.-410T>A)
19g.45407196T>CCA406345433POLR1Gc.125T>C (p.Leu42Pro)
c.131T>C (p.Leu44Pro)
c.20+478T>C
c.-410T>C (n.-410T>C)
19g.45407196T>GCA406345434POLR1Gc.125T>G (p.Leu42Arg)
c.131T>G (p.Leu44Arg)
c.20+478T>G
c.-410T>G (n.-410T>G)
19g.45407197G>ACA507816271POLR1Gc.126G>A (p.Leu42=)
c.132G>A (p.Leu44=)
c.20+479G>A
c.-409G>A (n.-409G>A)
19g.45407197G>CCA507816273POLR1Gc.126G>C (p.Leu42=)
c.132G>C (p.Leu44=)
c.20+479G>C
c.-409G>C (n.-409G>C)
19g.45407197G>TCA507816277POLR1Gc.126G>T (p.Leu42=)
c.132G>T (p.Leu44=)
c.20+479G>T
c.-409G>T (n.-409G>T)
19g.45407198T>ACA406345435POLR1Gc.127T>A (p.Trp43Arg)
c.133T>A (p.Trp45Arg)
c.20+480T>A
c.-408T>A (n.-408T>A)
19g.45407198T>CCA406345436POLR1Gc.127T>C (p.Trp43Arg)
c.133T>C (p.Trp45Arg)
c.20+480T>C
c.-408T>C (n.-408T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.45407198T>GCA406345437POLR1Gc.127T>G (p.Trp43Gly)
c.133T>G (p.Trp45Gly)
c.20+480T>G
c.-408T>G (n.-408T>G)
19g.45407198T=CA2338417248POLR1Gc.127T= (p.Trp43=)
c.133T= (p.Trp45=)
c.20+480T=
c.-408T= (n.-408T=)
19g.45407199G>ACA406345441POLR1Gc.128G>A (p.Trp43Ter)
c.134G>A (p.Trp45Ter)
c.20+481G>A
c.-407G>A (n.-407G>A)
19g.45407199G>CCA406345440POLR1Gc.128G>C (p.Trp43Ser)
c.134G>C (p.Trp45Ser)
c.20+481G>C
c.-407G>C (n.-407G>C)
19g.45407199G>TCA406345438POLR1Gc.128G>T (p.Trp43Leu)
c.134G>T (p.Trp45Leu)
c.20+481G>T
c.-407G>T (n.-407G>T)
19g.45407200G>ACA406345442POLR1Gc.129G>A (p.Trp43Ter)
c.135G>A (p.Trp45Ter)
c.20+482G>A
c.-406G>A (n.-406G>A)
19g.45407200G>CCA406345443POLR1Gc.129G>C (p.Trp43Cys)
c.135G>C (p.Trp45Cys)
c.20+482G>C
c.-406G>C (n.-406G>C)
19g.45407200G>TCA406345444POLR1Gc.129G>T (p.Trp43Cys)
c.135G>T (p.Trp45Cys)
c.20+482G>T
c.-406G>T (n.-406G>T)
19g.45407201C>ACA406345445POLR1Gc.130C>A (p.Leu44Ile)
c.136C>A (p.Leu46Ile)
c.20+483C>A
c.-405C>A (n.-405C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.45407201C=CA2338417249POLR1Gc.130C= (p.Leu44=)
c.136C= (p.Leu46=)
c.20+483C=
c.-405C= (n.-405C=)
19g.45407201C>GCA406345446POLR1Gc.130C>G (p.Leu44Val)
c.136C>G (p.Leu46Val)
c.20+483C>G
c.-405C>G (n.-405C>G)
19g.45407201C>TCA406345447POLR1Gc.130C>T (p.Leu44Phe)
c.136C>T (p.Leu46Phe)
c.20+483C>T
c.-405C>T (n.-405C>T)
19g.45407202T>ACA406345448POLR1Gc.131T>A (p.Leu44His)
c.137T>A (p.Leu46His)
c.20+484T>A
c.-404T>A (n.-404T>A)
19g.45407202T>CCA406345449POLR1Gc.131T>C (p.Leu44Pro)
c.137T>C (p.Leu46Pro)
c.20+484T>C
c.-404T>C (n.-404T>C)
19g.45407202T>GCA406345450POLR1Gc.131T>G (p.Leu44Arg)
c.137T>G (p.Leu46Arg)
c.20+484T>G
c.-404T>G (n.-404T>G)
19g.45407203T>ACA507816327POLR1Gc.132T>A (p.Leu44=)
c.138T>A (p.Leu46=)
c.20+485T>A
c.-403T>A (n.-403T>A)
19g.45407203T>CCA507816333POLR1Gc.132T>C (p.Leu44=)
c.138T>C (p.Leu46=)
c.20+485T>C
c.-403T>C (n.-403T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.45407203T>GCA507816341POLR1Gc.132T>G (p.Leu44=)
c.138T>G (p.Leu46=)
c.20+485T>G
c.-403T>G (n.-403T>G)
19g.45407203T=CA2338417250POLR1Gc.132T= (p.Leu44=)
c.138T= (p.Leu46=)
c.20+485T=
c.-403T= (n.-403T=)
19g.45407204A>CCA406345451POLR1Gc.133A>C (p.Ile45Leu)
c.139A>C (p.Ile47Leu)
c.20+486A>C
c.-402A>C (n.-402A>C)
19g.45407204A>GCA406345452POLR1Gc.133A>G (p.Ile45Val)
c.139A>G (p.Ile47Val)
c.20+486A>G
c.-402A>G (n.-402A>G)
19g.45407204A>TCA406345453POLR1Gc.133A>T (p.Ile45Phe)
c.139A>T (p.Ile47Phe)
c.20+486A>T
c.-402A>T (n.-402A>T)
19g.45407205T>ACA406345456POLR1Gc.134T>A (p.Ile45Asn)
c.140T>A (p.Ile47Asn)
c.20+487T>A
c.-401T>A (n.-401T>A)
19g.45407205T>CCA406345454POLR1Gc.134T>C (p.Ile45Thr)
c.140T>C (p.Ile47Thr)
c.20+487T>C
c.-401T>C (n.-401T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.45407205T>GCA406345455POLR1Gc.134T>G (p.Ile45Ser)
c.140T>G (p.Ile47Ser)
c.20+487T>G
c.-401T>G (n.-401T>G)
19g.45407205T=CA2338417251POLR1Gc.134T= (p.Ile45=)
c.140T= (p.Ile47=)
c.20+487T=
c.-401T= (n.-401T=)
19g.45407206T>ACA507816354POLR1Gc.135T>A (p.Ile45=)
c.141T>A (p.Ile47=)
c.20+488T>A
c.-400T>A (n.-400T>A)
19g.45407206T>CCA507816360POLR1Gc.135T>C (p.Ile45=)
c.141T>C (p.Ile47=)
c.20+488T>C
c.-400T>C (n.-400T>C)
19g.45407206T>GCA406345457POLR1Gc.135T>G (p.Ile45Met)
c.141T>G (p.Ile47Met)
c.20+488T>G
c.-400T>G (n.-400T>G)
19g.45407207C>ACA406345458POLR1Gc.136C>A (p.Gln46Lys)
c.142C>A (p.Gln48Lys)
c.20+489C>A
c.-399C>A (n.-399C>A)
19g.45407207C>GCA406345459POLR1Gc.136C>G (p.Gln46Glu)
c.142C>G (p.Gln48Glu)
c.20+489C>G
c.-399C>G (n.-399C>G)
19g.45407207C>TCA406345460POLR1Gc.136C>T (p.Gln46Ter)
c.142C>T (p.Gln48Ter)
c.20+489C>T
c.-399C>T (n.-399C>T)
19g.45407208A=CA2338417252POLR1Gc.137A= (p.Gln46=)
c.143A= (p.Gln48=)
c.20+490A=
c.-398A= (n.-398A=)
19g.45407208A>CCA406345461POLR1Gc.137A>C (p.Gln46Pro)
c.143A>C (p.Gln48Pro)
c.20+490A>C
c.-398A>C (n.-398A>C)
19g.45407208A>GCA9514888POLR1Gc.137A>G (p.Gln46Arg)
c.143A>G (p.Gln48Arg)
c.20+490A>G
c.-398A>G (n.-398A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.45407208A>TCA406345462POLR1Gc.137A>T (p.Gln46Leu)
c.143A>T (p.Gln48Leu)
c.20+490A>T
c.-398A>T (n.-398A>T)
19g.45407209G>ACA507816368POLR1Gc.138G>A (p.Gln46=)
c.144G>A (p.Gln48=)
c.20+491G>A
c.-397G>A (n.-397G>A)
19g.45407209G>CCA406345463POLR1Gc.138G>C (p.Gln46His)
c.144G>C (p.Gln48His)
c.20+491G>C
c.-397G>C (n.-397G>C)
19g.45407209G>TCA406345464POLR1Gc.138G>T (p.Gln46His)
c.144G>T (p.Gln48His)
c.20+491G>T
c.-397G>T (n.-397G>T)
19g.45407210G>ACA9514889POLR1Gc.139G>A (p.Ala47Thr)
c.145G>A (p.Ala49Thr)
c.20+492G>A
c.-396G>A (n.-396G>A)
 dbSNP ExAC gnomAD v2
19g.45407210G>CCA406345465POLR1Gc.139G>C (p.Ala47Pro)
c.145G>C (p.Ala49Pro)
c.20+492G>C
c.-396G>C (n.-396G>C)
19g.45407210G=CA2338417253POLR1Gc.139G= (p.Ala47=)
c.145G= (p.Ala49=)
c.20+492G=
c.-396G= (n.-396G=)
19g.45407210G>TCA406345466POLR1Gc.139G>T (p.Ala47Ser)
c.145G>T (p.Ala49Ser)
c.20+492G>T
c.-396G>T (n.-396G>T)
 dbSNP gnomAD v4
19g.45407211C>ACA406345468POLR1Gc.140C>A (p.Ala47Asp)
c.146C>A (p.Ala49Asp)
c.20+493C>A
c.-395C>A (n.-395C>A)
19g.45407211C>GCA406345469POLR1Gc.140C>G (p.Ala47Gly)
c.146C>G (p.Ala49Gly)
c.20+493C>G
c.-395C>G (n.-395C>G)
19g.45407211C>TCA406345467POLR1Gc.140C>T (p.Ala47Val)
c.146C>T (p.Ala49Val)
c.20+493C>T
c.-395C>T (n.-395C>T)
19g.45407212C>ACA507816375POLR1Gc.141C>A (p.Ala47=)
c.147C>A (p.Ala49=)
c.20+494C>A
c.-394C>A (n.-394C>A)
19g.45407212C=CA2338417254POLR1Gc.141C= (p.Ala47=)
c.147C= (p.Ala49=)
c.20+494C=
c.-394C= (n.-394C=)
19g.45407212C>GCA507816376POLR1Gc.141C>G (p.Ala47=)
c.147C>G (p.Ala49=)
c.20+494C>G
c.-394C>G (n.-394C>G)
19g.45407212C>TCA507816378POLR1Gc.141C>T (p.Ala47=)
c.147C>T (p.Ala49=)
c.20+494C>T
c.-394C>T (n.-394C>T)
 dbSNP gnomAD v2 gnomAD v4
19g.45407213C>ACA406345472POLR1Gc.142C>A (p.Pro48Thr)
c.148C>A (p.Pro50Thr)
c.20+495C>A
c.-393C>A (n.-393C>A)
19g.45407213C>GCA406345470POLR1Gc.142C>G (p.Pro48Ala)
c.148C>G (p.Pro50Ala)
c.20+495C>G
c.-393C>G (n.-393C>G)
19g.45407213C>TCA406345471POLR1Gc.142C>T (p.Pro48Ser)
c.148C>T (p.Pro50Ser)
c.20+495C>T
c.-393C>T (n.-393C>T)
 gnomAD v4
19g.45407214C>ACA406345473POLR1Gc.143C>A (p.Pro48His)
c.149C>A (p.Pro50His)
c.20+496C>A
c.-392C>A (n.-392C>A)
19g.45407214C>GCA406345474POLR1Gc.143C>G (p.Pro48Arg)
c.149C>G (p.Pro50Arg)
c.20+496C>G
c.-392C>G (n.-392C>G)
19g.45407214C>TCA406345475POLR1Gc.143C>T (p.Pro48Leu)
c.149C>T (p.Pro50Leu)
c.20+496C>T
c.-392C>T (n.-392C>T)
 gnomAD v4
19g.45407215T>ACA507816388POLR1Gc.144T>A (p.Pro48=)
c.150T>A (p.Pro50=)
c.20+497T>A
c.-391T>A (n.-391T>A)
19g.45407215T>CCA507816386POLR1Gc.144T>C (p.Pro48=)
c.150T>C (p.Pro50=)
c.20+497T>C
c.-391T>C (n.-391T>C)
19g.45407215T>GCA507816384POLR1Gc.144T>G (p.Pro48=)
c.150T>G (p.Pro50=)
c.20+497T>G
c.-391T>G (n.-391T>G)
 dbSNP
19g.45407215T=CA2338417255POLR1Gc.144T= (p.Pro48=)
c.150T= (p.Pro50=)
c.20+497T=
c.-391T= (n.-391T=)
19g.45407216G>ACA406345476POLR1Gc.145G>A (p.Ala49Thr)
c.151G>A (p.Ala51Thr)
c.20+498G>A
c.-390G>A (n.-390G>A)
 gnomAD v4
19g.45407216G>CCA406345477POLR1Gc.145G>C (p.Ala49Pro)
c.151G>C (p.Ala51Pro)
c.20+498G>C
c.-390G>C (n.-390G>C)
19g.45407216G>TCA406345478POLR1Gc.145G>T (p.Ala49Ser)
c.151G>T (p.Ala51Ser)
c.20+498G>T
c.-390G>T (n.-390G>T)
19g.45407217C>ACA406345479POLR1Gc.146C>A (p.Ala49Glu)
c.152C>A (p.Ala51Glu)
c.20+499C>A
c.-389C>A (n.-389C>A)
19g.45407217C=CA2338417256POLR1Gc.146C= (p.Ala49=)
c.152C= (p.Ala51=)
c.20+499C=
c.-389C= (n.-389C=)
19g.45407217C>GCA406345480POLR1Gc.146C>G (p.Ala49Gly)
c.152C>G (p.Ala51Gly)
c.20+499C>G
c.-389C>G (n.-389C>G)
19g.45407217C>TCA308937512POLR1Gc.146C>T (p.Ala49Val)
c.152C>T (p.Ala51Val)
c.20+499C>T
c.-389C>T (n.-389C>T)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
19g.45407218A=CA2338417257POLR1Gc.147A= (p.Ala49=)
c.153A= (p.Ala51=)
c.20+500A=
c.-388A= (n.-388A=)
19g.45407218A>CCA507816402POLR1Gc.147A>C (p.Ala49=)
c.153A>C (p.Ala51=)
c.20+500A>C
c.-388A>C (n.-388A>C)
19g.45407218A>GCA507816405POLR1Gc.147A>G (p.Ala49=)
c.153A>G (p.Ala51=)
c.20+500A>G
c.-388A>G (n.-388A>G)
19g.45407218A>TCA507816409POLR1Gc.147A>T (p.Ala49=)
c.153A>T (p.Ala51=)
c.20+500A>T
c.-388A>T (n.-388A>T)
19g.45407218_45407219insCAGCA9514890POLR1Gc.147_148insCAG (p.Ala49_Asp50insGln)
c.153_154insCAG (p.Ala51_Asp52insGln)
c.20+500_20+501insCAG
c.-388_-387insCAG (n.-388_-387insCAG)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.45407219G>ACA406345483POLR1Gc.148G>A (p.Asp50Asn)
c.154G>A (p.Asp52Asn)
c.20+501G>A
c.-387G>A (n.-387G>A)
19g.45407219G>CCA406345482POLR1Gc.148G>C (p.Asp50His)
c.154G>C (p.Asp52His)
c.20+501G>C
c.-387G>C (n.-387G>C)
19g.45407219G>TCA406345481POLR1Gc.148G>T (p.Asp50Tyr)
c.154G>T (p.Asp52Tyr)
c.20+501G>T
c.-387G>T (n.-387G>T)
19g.45407220A=CA2338417258POLR1Gc.149A= (p.Asp50=)
c.155A= (p.Asp52=)
c.20+502A=
c.-386A= (n.-386A=)
19g.45407220A>CCA406345484POLR1Gc.149A>C (p.Asp50Ala)
c.155A>C (p.Asp52Ala)
c.20+502A>C
c.-386A>C (n.-386A>C)
19g.45407220A>GCA406345485POLR1Gc.149A>G (p.Asp50Gly)
c.155A>G (p.Asp52Gly)
c.20+502A>G
c.-386A>G (n.-386A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.45407220A>TCA406345486POLR1Gc.149A>T (p.Asp50Val)
c.155A>T (p.Asp52Val)
c.20+502A>T
c.-386A>T (n.-386A>T)
19g.45407221C>ACA406345487POLR1Gc.150C>A (p.Asp50Glu)
c.156C>A (p.Asp52Glu)
c.20+503C>A
c.-385C>A (n.-385C>A)
19g.45407221C>GCA406345488POLR1Gc.150C>G (p.Asp50Glu)
c.156C>G (p.Asp52Glu)
c.20+503C>G
c.-385C>G (n.-385C>G)
19g.45407221C>TCA507816430POLR1Gc.150C>T (p.Asp50=)
c.156C>T (p.Asp52=)
c.20+503C>T
c.-385C>T (n.-385C>T)

Number of alleles fetched