Chr Mutation (hg38) CAid Gene Transcript Linkouts
6g.43597731G>ACA3827006POLH,POLR1Cc.526G>A (p.Asp176Asn)
c.154G>A (p.Asp52Asn)
c.340G>A (p.Asp114Asn)
c.274G>A (p.Asp92Asn)
c.70G>A (p.Asp24Asn)
c.945+68460G>A (n.945+68460G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597731G>CCA3827004POLH,POLR1Cc.526G>C (p.Asp176His)
c.154G>C (p.Asp52His)
c.340G>C (p.Asp114His)
c.274G>C (p.Asp92His)
c.70G>C (p.Asp24His)
c.945+68460G>C (n.945+68460G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597731G=CA1624580982POLH,POLR1Cc.526G= (p.Asp176=)
c.154G= (p.Asp52=)
c.340G= (p.Asp114=)
c.274G= (p.Asp92=)
c.70G= (p.Asp24=)
c.945+68460G= (n.945+68460G=)
6g.43597731G>TCA3827005POLH,POLR1Cc.526G>T (p.Asp176Tyr)
c.154G>T (p.Asp52Tyr)
c.340G>T (p.Asp114Tyr)
c.274G>T (p.Asp92Tyr)
c.70G>T (p.Asp24Tyr)
c.945+68460G>T (n.945+68460G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597732A=CA1624580983POLH,POLR1Cc.527A= (p.Asp176=)
c.155A= (p.Asp52=)
c.341A= (p.Asp114=)
c.275A= (p.Asp92=)
c.71A= (p.Asp24=)
c.945+68461A= (n.945+68461A=)
6g.43597732A>CCA3827007POLH,POLR1Cc.527A>C (p.Asp176Ala)
c.155A>C (p.Asp52Ala)
c.341A>C (p.Asp114Ala)
c.275A>C (p.Asp92Ala)
c.71A>C (p.Asp24Ala)
c.945+68461A>C (n.945+68461A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597732A>GCA3827008POLH,POLR1Cc.527A>G (p.Asp176Gly)
c.155A>G (p.Asp52Gly)
c.341A>G (p.Asp114Gly)
c.275A>G (p.Asp92Gly)
c.71A>G (p.Asp24Gly)
c.945+68461A>G (n.945+68461A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597732A>TCA364280435POLH,POLR1Cc.527A>T (p.Asp176Val)
c.155A>T (p.Asp52Val)
c.341A>T (p.Asp114Val)
c.275A>T (p.Asp92Val)
c.71A>T (p.Asp24Val)
c.945+68461A>T (n.945+68461A>T)
6g.43597733T>ACA364280440POLH,POLR1Cc.528T>A (p.Asp176Glu)
c.156T>A (p.Asp52Glu)
c.342T>A (p.Asp114Glu)
c.276T>A (p.Asp92Glu)
c.72T>A (p.Asp24Glu)
c.945+68462T>A (n.945+68462T>A)
6g.43597733T>CCA3827009POLH,POLR1Cc.528T>C (p.Asp176=)
c.156T>C (p.Asp52=)
c.342T>C (p.Asp114=)
c.276T>C (p.Asp92=)
c.72T>C (p.Asp24=)
c.945+68462T>C (n.945+68462T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597733T>GCA364280443POLH,POLR1Cc.528T>G (p.Asp176Glu)
c.156T>G (p.Asp52Glu)
c.342T>G (p.Asp114Glu)
c.276T>G (p.Asp92Glu)
c.72T>G (p.Asp24Glu)
c.945+68462T>G (n.945+68462T>G)
 dbSNP
6g.43597733T=CA1624580984POLH,POLR1Cc.528T= (p.Asp176=)
c.156T= (p.Asp52=)
c.342T= (p.Asp114=)
c.276T= (p.Asp92=)
c.72T= (p.Asp24=)
c.945+68462T= (n.945+68462T=)
6g.43597734T>ACA364280452POLH,POLR1Cc.529T>A (p.Ser177Thr)
c.157T>A (p.Ser53Thr)
c.343T>A (p.Ser115Thr)
c.277T>A (p.Ser93Thr)
c.73T>A (p.Ser25Thr)
c.945+68463T>A (n.945+68463T>A)
6g.43597734T>CCA364280450POLH,POLR1Cc.529T>C (p.Ser177Pro)
c.157T>C (p.Ser53Pro)
c.343T>C (p.Ser115Pro)
c.277T>C (p.Ser93Pro)
c.73T>C (p.Ser25Pro)
c.945+68463T>C (n.945+68463T>C)
6g.43597734T>GCA364280447POLH,POLR1Cc.529T>G (p.Ser177Ala)
c.157T>G (p.Ser53Ala)
c.343T>G (p.Ser115Ala)
c.277T>G (p.Ser93Ala)
c.73T>G (p.Ser25Ala)
c.945+68463T>G (n.945+68463T>G)
6g.43597735C>ACA364280460POLH,POLR1Cc.530C>A (p.Ser177Tyr)
c.158C>A (p.Ser53Tyr)
c.344C>A (p.Ser115Tyr)
c.278C>A (p.Ser93Tyr)
c.74C>A (p.Ser25Tyr)
c.945+68464C>A (n.945+68464C>A)
6g.43597735C=CA1624580985POLH,POLR1Cc.530C= (p.Ser177=)
c.158C= (p.Ser53=)
c.344C= (p.Ser115=)
c.278C= (p.Ser93=)
c.74C= (p.Ser25=)
c.945+68464C= (n.945+68464C=)
6g.43597735C>GCA364280463POLH,POLR1Cc.530C>G (p.Ser177Cys)
c.158C>G (p.Ser53Cys)
c.344C>G (p.Ser115Cys)
c.278C>G (p.Ser93Cys)
c.74C>G (p.Ser25Cys)
c.945+68464C>G (n.945+68464C>G)
6g.43597735C>TCA364280465POLH,POLR1Cc.530C>T (p.Ser177Phe)
c.158C>T (p.Ser53Phe)
c.344C>T (p.Ser115Phe)
c.278C>T (p.Ser93Phe)
c.74C>T (p.Ser25Phe)
c.945+68464C>T (n.945+68464C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.43597736T>ACA450297307POLH,POLR1Cc.531T>A (p.Ser177=)
c.159T>A (p.Ser53=)
c.345T>A (p.Ser115=)
c.279T>A (p.Ser93=)
c.75T>A (p.Ser25=)
c.945+68465T>A (n.945+68465T>A)
6g.43597736T>CCA450297308POLH,POLR1Cc.531T>C (p.Ser177=)
c.159T>C (p.Ser53=)
c.345T>C (p.Ser115=)
c.279T>C (p.Ser93=)
c.75T>C (p.Ser25=)
c.945+68465T>C (n.945+68465T>C)
6g.43597736T>GCA450297309POLH,POLR1Cc.531T>G (p.Ser177=)
c.159T>G (p.Ser53=)
c.345T>G (p.Ser115=)
c.279T>G (p.Ser93=)
c.75T>G (p.Ser25=)
c.945+68465T>G (n.945+68465T>G)
6g.43597737C>ACA364280469POLH,POLR1Cc.532C>A (p.Leu178Ile)
c.160C>A (p.Leu54Ile)
c.346C>A (p.Leu116Ile)
c.280C>A (p.Leu94Ile)
c.76C>A (p.Leu26Ile)
c.945+68466C>A (n.945+68466C>A)
6g.43597737C=CA1624580986POLH,POLR1Cc.532C= (p.Leu178=)
c.160C= (p.Leu54=)
c.346C= (p.Leu116=)
c.280C= (p.Leu94=)
c.76C= (p.Leu26=)
c.945+68466C= (n.945+68466C=)
6g.43597737C>GCA3827010POLH,POLR1Cc.532C>G (p.Leu178Val)
c.160C>G (p.Leu54Val)
c.346C>G (p.Leu116Val)
c.280C>G (p.Leu94Val)
c.76C>G (p.Leu26Val)
c.945+68466C>G (n.945+68466C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597737C>TCA364280475POLH,POLR1Cc.532C>T (p.Leu178Phe)
c.160C>T (p.Leu54Phe)
c.346C>T (p.Leu116Phe)
c.280C>T (p.Leu94Phe)
c.76C>T (p.Leu26Phe)
c.945+68466C>T (n.945+68466C>T)
6g.43597737_43597739delinsCTTCA1624580987POLH,POLR1Cc.532_534delinsCTT (p.Leu178=)
c.160_162delinsCTT (p.Leu54=)
c.346_348delinsCTT (p.Leu116=)
c.280_282delinsCTT (p.Leu94=)
c.76_78delinsCTT (p.Leu26=)
c.945+68466_945+68468delinsCTT (n.945+68466_945+68468delinsCTT)
6g.43597738T>ACA364280480POLH,POLR1Cc.533T>A (p.Leu178His)
c.161T>A (p.Leu54His)
c.347T>A (p.Leu116His)
c.281T>A (p.Leu94His)
c.77T>A (p.Leu26His)
c.945+68467T>A (n.945+68467T>A)
6g.43597738T>CCA364280482POLH,POLR1Cc.533T>C (p.Leu178Pro)
c.161T>C (p.Leu54Pro)
c.347T>C (p.Leu116Pro)
c.281T>C (p.Leu94Pro)
c.77T>C (p.Leu26Pro)
c.945+68467T>C (n.945+68467T>C)
6g.43597738T>GCA364280485POLH,POLR1Cc.533T>G (p.Leu178Arg)
c.161T>G (p.Leu54Arg)
c.347T>G (p.Leu116Arg)
c.281T>G (p.Leu94Arg)
c.77T>G (p.Leu26Arg)
c.945+68467T>G (n.945+68467T>G)
6g.43597738_43597739delCA3827011POLH,POLR1Cc.533_534del (p.Leu178ProfsTer3)
c.161_162del (p.Leu54ProfsTer3)
c.347_348del (p.Leu116ProfsTer3)
c.281_282del (p.Leu94ProfsTer3)
c.77_78del (p.Leu26ProfsTer3)
c.945+68467_945+68468del (n.945+68467_945+68468del)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597739T>ACA450297311POLH,POLR1Cc.534T>A (p.Leu178=)
c.162T>A (p.Leu54=)
c.348T>A (p.Leu116=)
c.282T>A (p.Leu94=)
c.78T>A (p.Leu26=)
c.945+68468T>A (n.945+68468T>A)
6g.43597739T>CCA450297312POLH,POLR1Cc.534T>C (p.Leu178=)
c.162T>C (p.Leu54=)
c.348T>C (p.Leu116=)
c.282T>C (p.Leu94=)
c.78T>C (p.Leu26=)
c.945+68468T>C (n.945+68468T>C)
6g.43597739T>GCA450297313POLH,POLR1Cc.534T>G (p.Leu178=)
c.162T>G (p.Leu54=)
c.348T>G (p.Leu116=)
c.282T>G (p.Leu94=)
c.78T>G (p.Leu26=)
c.945+68468T>G (n.945+68468T>G)
6g.43597740C>ACA364280490POLH,POLR1Cc.535C>A (p.Gln179Lys)
c.163C>A (p.Gln55Lys)
c.349C>A (p.Gln117Lys)
c.283C>A (p.Gln95Lys)
c.79C>A (p.Gln27Lys)
c.945+68469C>A (n.945+68469C>A)
6g.43597740C>GCA364280492POLH,POLR1Cc.535C>G (p.Gln179Glu)
c.163C>G (p.Gln55Glu)
c.349C>G (p.Gln117Glu)
c.283C>G (p.Gln95Glu)
c.79C>G (p.Gln27Glu)
c.945+68469C>G (n.945+68469C>G)
6g.43597740C>TCA364280495POLH,POLR1Cc.535C>T (p.Gln179Ter)
c.163C>T (p.Gln55Ter)
c.349C>T (p.Gln117Ter)
c.283C>T (p.Gln95Ter)
c.79C>T (p.Gln27Ter)
c.945+68469C>T (n.945+68469C>T)
 gnomAD v4
6g.43597741A>CCA364280498POLH,POLR1Cc.536A>C (p.Gln179Pro)
c.164A>C (p.Gln55Pro)
c.350A>C (p.Gln117Pro)
c.284A>C (p.Gln95Pro)
c.80A>C (p.Gln27Pro)
c.945+68470A>C (n.945+68470A>C)
6g.43597741A>GCA364280502POLH,POLR1Cc.536A>G (p.Gln179Arg)
c.164A>G (p.Gln55Arg)
c.350A>G (p.Gln117Arg)
c.284A>G (p.Gln95Arg)
c.80A>G (p.Gln27Arg)
c.945+68470A>G (n.945+68470A>G)
 gnomAD v4
6g.43597741A>TCA364280500POLH,POLR1Cc.536A>T (p.Gln179Leu)
c.164A>T (p.Gln55Leu)
c.350A>T (p.Gln117Leu)
c.284A>T (p.Gln95Leu)
c.80A>T (p.Gln27Leu)
c.945+68470A>T (n.945+68470A>T)
6g.43597742G>ACA450297314POLH,POLR1Cc.537G>A (p.Gln179=)
c.165G>A (p.Gln55=)
c.351G>A (p.Gln117=)
c.285G>A (p.Gln95=)
c.81G>A (p.Gln27=)
c.945+68471G>A (n.945+68471G>A)
6g.43597742G>CCA364280505POLH,POLR1Cc.537G>C (p.Gln179His)
c.165G>C (p.Gln55His)
c.351G>C (p.Gln117His)
c.285G>C (p.Gln95His)
c.81G>C (p.Gln27His)
c.945+68471G>C (n.945+68471G>C)
6g.43597742G>TCA364280506POLH,POLR1Cc.537G>T (p.Gln179His)
c.165G>T (p.Gln55His)
c.351G>T (p.Gln117His)
c.285G>T (p.Gln95His)
c.81G>T (p.Gln27His)
c.945+68471G>T (n.945+68471G>T)
6g.43597743A>CCA364280509POLH,POLR1Cc.538A>C (p.Ile180Leu)
c.166A>C (p.Ile56Leu)
c.352A>C (p.Ile118Leu)
c.286A>C (p.Ile96Leu)
c.82A>C (p.Ile28Leu)
c.945+68472A>C (n.945+68472A>C)
6g.43597743A>GCA364280513POLH,POLR1Cc.538A>G (p.Ile180Val)
c.166A>G (p.Ile56Val)
c.352A>G (p.Ile118Val)
c.286A>G (p.Ile96Val)
c.82A>G (p.Ile28Val)
c.945+68472A>G (n.945+68472A>G)
6g.43597743A>TCA364280511POLH,POLR1Cc.538A>T (p.Ile180Phe)
c.166A>T (p.Ile56Phe)
c.352A>T (p.Ile118Phe)
c.286A>T (p.Ile96Phe)
c.82A>T (p.Ile28Phe)
c.945+68472A>T (n.945+68472A>T)
6g.43597744T>ACA364280516POLH,POLR1Cc.539T>A (p.Ile180Asn)
c.167T>A (p.Ile56Asn)
c.353T>A (p.Ile118Asn)
c.287T>A (p.Ile96Asn)
c.83T>A (p.Ile28Asn)
c.945+68473T>A (n.945+68473T>A)
6g.43597744T>CCA3827012POLH,POLR1Cc.539T>C (p.Ile180Thr)
c.167T>C (p.Ile56Thr)
c.353T>C (p.Ile118Thr)
c.287T>C (p.Ile96Thr)
c.83T>C (p.Ile28Thr)
c.945+68473T>C (n.945+68473T>C)
 ClinVar dbSNP ExAC gnomAD v4
6g.43597744T>GCA364280522POLH,POLR1Cc.539T>G (p.Ile180Ser)
c.167T>G (p.Ile56Ser)
c.353T>G (p.Ile118Ser)
c.287T>G (p.Ile96Ser)
c.83T>G (p.Ile28Ser)
c.945+68473T>G (n.945+68473T>G)
6g.43597744T=CA1624580988POLH,POLR1Cc.539T= (p.Ile180=)
c.167T= (p.Ile56=)
c.353T= (p.Ile118=)
c.287T= (p.Ile96=)
c.83T= (p.Ile28=)
c.945+68473T= (n.945+68473T=)
6g.43597745T>ACA450297315POLH,POLR1Cc.540T>A (p.Ile180=)
c.168T>A (p.Ile56=)
c.354T>A (p.Ile118=)
c.288T>A (p.Ile96=)
c.84T>A (p.Ile28=)
c.945+68474T>A (n.945+68474T>A)
6g.43597745T>CCA450297316POLH,POLR1Cc.540T>C (p.Ile180=)
c.168T>C (p.Ile56=)
c.354T>C (p.Ile118=)
c.288T>C (p.Ile96=)
c.84T>C (p.Ile28=)
c.945+68474T>C (n.945+68474T>C)
6g.43597745T>GCA364280527POLH,POLR1Cc.540T>G (p.Ile180Met)
c.168T>G (p.Ile56Met)
c.354T>G (p.Ile118Met)
c.288T>G (p.Ile96Met)
c.84T>G (p.Ile28Met)
c.945+68474T>G (n.945+68474T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597745T=CA1624580989POLH,POLR1Cc.540T= (p.Ile180=)
c.168T= (p.Ile56=)
c.354T= (p.Ile118=)
c.288T= (p.Ile96=)
c.84T= (p.Ile28=)
c.945+68474T= (n.945+68474T=)
6g.43597746G>ACA364280529POLH,POLR1Cc.541G>A (p.Asp181Asn)
c.169G>A (p.Asp57Asn)
c.355G>A (p.Asp119Asn)
c.289G>A (p.Asp97Asn)
c.85G>A (p.Asp29Asn)
c.945+68475G>A (n.945+68475G>A)
6g.43597746G>CCA364280531POLH,POLR1Cc.541G>C (p.Asp181His)
c.169G>C (p.Asp57His)
c.355G>C (p.Asp119His)
c.289G>C (p.Asp97His)
c.85G>C (p.Asp29His)
c.945+68475G>C (n.945+68475G>C)
6g.43597746G>TCA364280533POLH,POLR1Cc.541G>T (p.Asp181Tyr)
c.169G>T (p.Asp57Tyr)
c.355G>T (p.Asp119Tyr)
c.289G>T (p.Asp97Tyr)
c.85G>T (p.Asp29Tyr)
c.945+68475G>T (n.945+68475G>T)
6g.43597747A=CA1624580990POLH,POLR1Cc.542A= (p.Asp181=)
c.170A= (p.Asp57=)
c.356A= (p.Asp119=)
c.290A= (p.Asp97=)
c.86A= (p.Asp29=)
c.945+68476A= (n.945+68476A=)
6g.43597747A>CCA364280537POLH,POLR1Cc.542A>C (p.Asp181Ala)
c.170A>C (p.Asp57Ala)
c.356A>C (p.Asp119Ala)
c.290A>C (p.Asp97Ala)
c.86A>C (p.Asp29Ala)
c.945+68476A>C (n.945+68476A>C)
6g.43597747A>GCA364280539POLH,POLR1Cc.542A>G (p.Asp181Gly)
c.170A>G (p.Asp57Gly)
c.356A>G (p.Asp119Gly)
c.290A>G (p.Asp97Gly)
c.86A>G (p.Asp29Gly)
c.945+68476A>G (n.945+68476A>G)
6g.43597747A>TCA3827013POLH,POLR1Cc.542A>T (p.Asp181Val)
c.170A>T (p.Asp57Val)
c.356A>T (p.Asp119Val)
c.290A>T (p.Asp97Val)
c.86A>T (p.Asp29Val)
c.945+68476A>T (n.945+68476A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597748T>ACA364280542POLH,POLR1Cc.543T>A (p.Asp181Glu)
c.171T>A (p.Asp57Glu)
c.357T>A (p.Asp119Glu)
c.291T>A (p.Asp97Glu)
c.87T>A (p.Asp29Glu)
c.945+68477T>A (n.945+68477T>A)
6g.43597748T>CCA450297317POLH,POLR1Cc.543T>C (p.Asp181=)
c.171T>C (p.Asp57=)
c.357T>C (p.Asp119=)
c.291T>C (p.Asp97=)
c.87T>C (p.Asp29=)
c.945+68477T>C (n.945+68477T>C)
6g.43597748T>GCA364280544POLH,POLR1Cc.543T>G (p.Asp181Glu)
c.171T>G (p.Asp57Glu)
c.357T>G (p.Asp119Glu)
c.291T>G (p.Asp97Glu)
c.87T>G (p.Asp29Glu)
c.945+68477T>G (n.945+68477T>G)
6g.43597749A=CA1624580992POLH,POLR1Cc.544A= (p.Asn182=)
c.172A= (p.Asn58=)
c.358A= (p.Asn120=)
c.292A= (p.Asn98=)
c.88A= (p.Asn30=)
c.945+68478A= (n.945+68478A=)
6g.43597749A>CCA3827014POLH,POLR1Cc.544A>C (p.Asn182His)
c.172A>C (p.Asn58His)
c.358A>C (p.Asn120His)
c.292A>C (p.Asn98His)
c.88A>C (p.Asn30His)
c.945+68478A>C (n.945+68478A>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597749A>GCA364280549POLH,POLR1Cc.544A>G (p.Asn182Asp)
c.172A>G (p.Asn58Asp)
c.358A>G (p.Asn120Asp)
c.292A>G (p.Asn98Asp)
c.88A>G (p.Asn30Asp)
c.945+68478A>G (n.945+68478A>G)
6g.43597749A>TCA364280547POLH,POLR1Cc.544A>T (p.Asn182Tyr)
c.172A>T (p.Asn58Tyr)
c.358A>T (p.Asn120Tyr)
c.292A>T (p.Asn98Tyr)
c.88A>T (p.Asn30Tyr)
c.945+68478A>T (n.945+68478A>T)
6g.43597750A>CCA364280553POLH,POLR1Cc.545A>C (p.Asn182Thr)
c.173A>C (p.Asn58Thr)
c.359A>C (p.Asn120Thr)
c.293A>C (p.Asn98Thr)
c.89A>C (p.Asn30Thr)
c.945+68479A>C (n.945+68479A>C)
6g.43597750A>GCA364280555POLH,POLR1Cc.545A>G (p.Asn182Ser)
c.173A>G (p.Asn58Ser)
c.359A>G (p.Asn120Ser)
c.293A>G (p.Asn98Ser)
c.89A>G (p.Asn30Ser)
c.945+68479A>G (n.945+68479A>G)
 ClinVar dbSNP
6g.43597750A>TCA364280557POLH,POLR1Cc.545A>T (p.Asn182Ile)
c.173A>T (p.Asn58Ile)
c.359A>T (p.Asn120Ile)
c.293A>T (p.Asn98Ile)
c.89A>T (p.Asn30Ile)
c.945+68479A>T (n.945+68479A>T)
6g.43597751C>ACA364280559POLH,POLR1Cc.546C>A (p.Asn182Lys)
c.174C>A (p.Asn58Lys)
c.360C>A (p.Asn120Lys)
c.294C>A (p.Asn98Lys)
c.90C>A (p.Asn30Lys)
c.945+68480C>A (n.945+68480C>A)
 dbSNP gnomAD v2 gnomAD v4
6g.43597751C=CA1624580993POLH,POLR1Cc.546C= (p.Asn182=)
c.174C= (p.Asn58=)
c.360C= (p.Asn120=)
c.294C= (p.Asn98=)
c.90C= (p.Asn30=)
c.945+68480C= (n.945+68480C=)
6g.43597751C>GCA364280562POLH,POLR1Cc.546C>G (p.Asn182Lys)
c.174C>G (p.Asn58Lys)
c.360C>G (p.Asn120Lys)
c.294C>G (p.Asn98Lys)
c.90C>G (p.Asn30Lys)
c.945+68480C>G (n.945+68480C>G)
6g.43597751C>TCA138324584POLH,POLR1Cc.546C>T (p.Asn182=)
c.174C>T (p.Asn58=)
c.360C>T (p.Asn120=)
c.294C>T (p.Asn98=)
c.90C>T (p.Asn30=)
c.945+68480C>T (n.945+68480C>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597752C>ACA364280565POLH,POLR1Cc.547C>A (p.Leu183Ile)
c.175C>A (p.Leu59Ile)
c.361C>A (p.Leu121Ile)
c.295C>A (p.Leu99Ile)
c.91C>A (p.Leu31Ile)
c.945+68481C>A (n.945+68481C>A)
6g.43597752C>GCA364280567POLH,POLR1Cc.547C>G (p.Leu183Val)
c.175C>G (p.Leu59Val)
c.361C>G (p.Leu121Val)
c.295C>G (p.Leu99Val)
c.91C>G (p.Leu31Val)
c.945+68481C>G (n.945+68481C>G)
6g.43597752C>TCA364280568POLH,POLR1Cc.547C>T (p.Leu183Phe)
c.175C>T (p.Leu59Phe)
c.361C>T (p.Leu121Phe)
c.295C>T (p.Leu99Phe)
c.91C>T (p.Leu31Phe)
c.945+68481C>T (n.945+68481C>T)
6g.43597753T>ACA364280572POLH,POLR1Cc.548T>A (p.Leu183His)
c.176T>A (p.Leu59His)
c.362T>A (p.Leu121His)
c.296T>A (p.Leu99His)
c.92T>A (p.Leu31His)
c.945+68482T>A (n.945+68482T>A)
6g.43597753T>CCA364280574POLH,POLR1Cc.548T>C (p.Leu183Pro)
c.176T>C (p.Leu59Pro)
c.362T>C (p.Leu121Pro)
c.296T>C (p.Leu99Pro)
c.92T>C (p.Leu31Pro)
c.945+68482T>C (n.945+68482T>C)
6g.43597753T>GCA364280576POLH,POLR1Cc.548T>G (p.Leu183Arg)
c.176T>G (p.Leu59Arg)
c.362T>G (p.Leu121Arg)
c.296T>G (p.Leu99Arg)
c.92T>G (p.Leu31Arg)
c.945+68482T>G (n.945+68482T>G)
6g.43597754C>ACA450297320POLH,POLR1Cc.549C>A (p.Leu183=)
c.177C>A (p.Leu59=)
c.363C>A (p.Leu121=)
c.297C>A (p.Leu99=)
c.93C>A (p.Leu31=)
c.945+68483C>A (n.945+68483C>A)
6g.43597754C=CA1624580994POLH,POLR1Cc.549C= (p.Leu183=)
c.177C= (p.Leu59=)
c.363C= (p.Leu121=)
c.297C= (p.Leu99=)
c.93C= (p.Leu31=)
c.945+68483C= (n.945+68483C=)
6g.43597754C>GCA450297319POLH,POLR1Cc.549C>G (p.Leu183=)
c.177C>G (p.Leu59=)
c.363C>G (p.Leu121=)
c.297C>G (p.Leu99=)
c.93C>G (p.Leu31=)
c.945+68483C>G (n.945+68483C>G)
6g.43597754C>TCA450297318POLH,POLR1Cc.549C>T (p.Leu183=)
c.177C>T (p.Leu59=)
c.363C>T (p.Leu121=)
c.297C>T (p.Leu99=)
c.93C>T (p.Leu31=)
c.945+68483C>T (n.945+68483C>T)
 dbSNP gnomAD v4
6g.43597755A>CCA364280581POLH,POLR1Cc.550A>C (p.Thr184Pro)
c.178A>C (p.Thr60Pro)
c.364A>C (p.Thr122Pro)
c.298A>C (p.Thr100Pro)
c.94A>C (p.Thr32Pro)
c.945+68484A>C (n.945+68484A>C)
6g.43597755A>GCA364280583POLH,POLR1Cc.550A>G (p.Thr184Ala)
c.178A>G (p.Thr60Ala)
c.364A>G (p.Thr122Ala)
c.298A>G (p.Thr100Ala)
c.94A>G (p.Thr32Ala)
c.945+68484A>G (n.945+68484A>G)
6g.43597755A>TCA364280579POLH,POLR1Cc.550A>T (p.Thr184Ser)
c.178A>T (p.Thr60Ser)
c.364A>T (p.Thr122Ser)
c.298A>T (p.Thr100Ser)
c.94A>T (p.Thr32Ser)
c.945+68484A>T (n.945+68484A>T)
6g.43597756C>ACA364280586POLH,POLR1Cc.551C>A (p.Thr184Asn)
c.179C>A (p.Thr60Asn)
c.365C>A (p.Thr122Asn)
c.299C>A (p.Thr100Asn)
c.95C>A (p.Thr32Asn)
c.945+68485C>A (n.945+68485C>A)
6g.43597756C>GCA364280588POLH,POLR1Cc.551C>G (p.Thr184Ser)
c.179C>G (p.Thr60Ser)
c.365C>G (p.Thr122Ser)
c.299C>G (p.Thr100Ser)
c.95C>G (p.Thr32Ser)
c.945+68485C>G (n.945+68485C>G)
6g.43597756C>TCA364280590POLH,POLR1Cc.551C>T (p.Thr184Ile)
c.179C>T (p.Thr60Ile)
c.365C>T (p.Thr122Ile)
c.299C>T (p.Thr100Ile)
c.95C>T (p.Thr32Ile)
c.945+68485C>T (n.945+68485C>T)
6g.43597757C>ACA450297321POLH,POLR1Cc.552C>A (p.Thr184=)
c.180C>A (p.Thr60=)
c.366C>A (p.Thr122=)
c.300C>A (p.Thr100=)
c.96C>A (p.Thr32=)
c.945+68486C>A (n.945+68486C>A)
 gnomAD v4
6g.43597757C=CA1624580995POLH,POLR1Cc.552C= (p.Thr184=)
c.180C= (p.Thr60=)
c.366C= (p.Thr122=)
c.300C= (p.Thr100=)
c.96C= (p.Thr32=)
c.945+68486C= (n.945+68486C=)
6g.43597757C>GCA3827015POLH,POLR1Cc.552C>G (p.Thr184=)
c.180C>G (p.Thr60=)
c.366C>G (p.Thr122=)
c.300C>G (p.Thr100=)
c.96C>G (p.Thr32=)
c.945+68486C>G (n.945+68486C>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597757C>TCA450297322POLH,POLR1Cc.552C>T (p.Thr184=)
c.180C>T (p.Thr60=)
c.366C>T (p.Thr122=)
c.300C>T (p.Thr100=)
c.96C>T (p.Thr32=)
c.945+68486C>T (n.945+68486C>T)
 dbSNP
6g.43597758T>ACA364280599POLH,POLR1Cc.553T>A (p.Ser185Thr)
c.181T>A (p.Ser61Thr)
c.367T>A (p.Ser123Thr)
c.301T>A (p.Ser101Thr)
c.97T>A (p.Ser33Thr)
c.945+68487T>A (n.945+68487T>A)
6g.43597758T>CCA364280598POLH,POLR1Cc.553T>C (p.Ser185Pro)
c.181T>C (p.Ser61Pro)
c.367T>C (p.Ser123Pro)
c.301T>C (p.Ser101Pro)
c.97T>C (p.Ser33Pro)
c.945+68487T>C (n.945+68487T>C)
6g.43597758T>GCA364280596POLH,POLR1Cc.553T>G (p.Ser185Ala)
c.181T>G (p.Ser61Ala)
c.367T>G (p.Ser123Ala)
c.301T>G (p.Ser101Ala)
c.97T>G (p.Ser33Ala)
c.945+68487T>G (n.945+68487T>G)
6g.43597759C>ACA364280600POLH,POLR1Cc.554C>A (p.Ser185Tyr)
c.182C>A (p.Ser61Tyr)
c.368C>A (p.Ser123Tyr)
c.302C>A (p.Ser101Tyr)
c.98C>A (p.Ser33Tyr)
c.945+68488C>A (n.945+68488C>A)
6g.43597759C>GCA364280601POLH,POLR1Cc.554C>G (p.Ser185Cys)
c.182C>G (p.Ser61Cys)
c.368C>G (p.Ser123Cys)
c.302C>G (p.Ser101Cys)
c.98C>G (p.Ser33Cys)
c.945+68488C>G (n.945+68488C>G)
6g.43597759C>TCA364280602POLH,POLR1Cc.554C>T (p.Ser185Phe)
c.182C>T (p.Ser61Phe)
c.368C>T (p.Ser123Phe)
c.302C>T (p.Ser101Phe)
c.98C>T (p.Ser33Phe)
c.945+68488C>T (n.945+68488C>T)
 gnomAD v4
6g.43597760T>ACA450297323POLH,POLR1Cc.555T>A (p.Ser185=)
c.183T>A (p.Ser61=)
c.369T>A (p.Ser123=)
c.303T>A (p.Ser101=)
c.99T>A (p.Ser33=)
c.945+68489T>A (n.945+68489T>A)
6g.43597760T>CCA450297324POLH,POLR1Cc.555T>C (p.Ser185=)
c.183T>C (p.Ser61=)
c.369T>C (p.Ser123=)
c.303T>C (p.Ser101=)
c.99T>C (p.Ser33=)
c.945+68489T>C (n.945+68489T>C)
6g.43597760T>GCA450297325POLH,POLR1Cc.555T>G (p.Ser185=)
c.183T>G (p.Ser61=)
c.369T>G (p.Ser123=)
c.303T>G (p.Ser101=)
c.99T>G (p.Ser33=)
c.945+68489T>G (n.945+68489T>G)
6g.43597761C>ACA364280603POLH,POLR1Cc.556C>A (p.Pro186Thr)
c.184C>A (p.Pro62Thr)
c.370C>A (p.Pro124Thr)
c.304C>A (p.Pro102Thr)
c.100C>A (p.Pro34Thr)
c.945+68490C>A (n.945+68490C>A)
6g.43597761C=CA1624580996POLH,POLR1Cc.556C= (p.Pro186=)
c.184C= (p.Pro62=)
c.370C= (p.Pro124=)
c.304C= (p.Pro102=)
c.100C= (p.Pro34=)
c.945+68490C= (n.945+68490C=)
6g.43597761C>GCA364280604POLH,POLR1Cc.556C>G (p.Pro186Ala)
c.184C>G (p.Pro62Ala)
c.370C>G (p.Pro124Ala)
c.304C>G (p.Pro102Ala)
c.100C>G (p.Pro34Ala)
c.945+68490C>G (n.945+68490C>G)
6g.43597761C>TCA3827016POLH,POLR1Cc.556C>T (p.Pro186Ser)
c.184C>T (p.Pro62Ser)
c.370C>T (p.Pro124Ser)
c.304C>T (p.Pro102Ser)
c.100C>T (p.Pro34Ser)
c.945+68490C>T (n.945+68490C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597762C>ACA364280605POLH,POLR1Cc.557C>A (p.Pro186Gln)
c.185C>A (p.Pro62Gln)
c.371C>A (p.Pro124Gln)
c.305C>A (p.Pro102Gln)
c.101C>A (p.Pro34Gln)
c.945+68491C>A (n.945+68491C>A)
6g.43597762C>GCA364280607POLH,POLR1Cc.557C>G (p.Pro186Arg)
c.185C>G (p.Pro62Arg)
c.371C>G (p.Pro124Arg)
c.305C>G (p.Pro102Arg)
c.101C>G (p.Pro34Arg)
c.945+68491C>G (n.945+68491C>G)
6g.43597762C>TCA364280606POLH,POLR1Cc.557C>T (p.Pro186Leu)
c.185C>T (p.Pro62Leu)
c.371C>T (p.Pro124Leu)
c.305C>T (p.Pro102Leu)
c.101C>T (p.Pro34Leu)
c.945+68491C>T (n.945+68491C>T)
6g.43597763A=CA1624580998POLH,POLR1Cc.558A= (p.Pro186=)
c.186A= (p.Pro62=)
c.372A= (p.Pro124=)
c.306A= (p.Pro102=)
c.102A= (p.Pro34=)
c.945+68492A= (n.945+68492A=)
6g.43597763A>CCA450297326POLH,POLR1Cc.558A>C (p.Pro186=)
c.186A>C (p.Pro62=)
c.372A>C (p.Pro124=)
c.306A>C (p.Pro102=)
c.102A>C (p.Pro34=)
c.945+68492A>C (n.945+68492A>C)
 dbSNP
6g.43597763A>GCA450297328POLH,POLR1Cc.558A>G (p.Pro186=)
c.186A>G (p.Pro62=)
c.372A>G (p.Pro124=)
c.306A>G (p.Pro102=)
c.102A>G (p.Pro34=)
c.945+68492A>G (n.945+68492A>G)
6g.43597763A>TCA450297327POLH,POLR1Cc.558A>T (p.Pro186=)
c.186A>T (p.Pro62=)
c.372A>T (p.Pro124=)
c.306A>T (p.Pro102=)
c.102A>T (p.Pro34=)
c.945+68492A>T (n.945+68492A>T)
6g.43597764G>ACA364280608POLH,POLR1Cc.559G>A (p.Asp187Asn)
c.187G>A (p.Asp63Asn)
c.373G>A (p.Asp125Asn)
c.307G>A (p.Asp103Asn)
c.103G>A (p.Asp35Asn)
c.945+68493G>A (n.945+68493G>A)
6g.43597764G>CCA364280609POLH,POLR1Cc.559G>C (p.Asp187His)
c.187G>C (p.Asp63His)
c.373G>C (p.Asp125His)
c.307G>C (p.Asp103His)
c.103G>C (p.Asp35His)
c.945+68493G>C (n.945+68493G>C)
6g.43597764G>TCA364280610POLH,POLR1Cc.559G>T (p.Asp187Tyr)
c.187G>T (p.Asp63Tyr)
c.373G>T (p.Asp125Tyr)
c.307G>T (p.Asp103Tyr)
c.103G>T (p.Asp35Tyr)
c.945+68493G>T (n.945+68493G>T)
6g.43597765A>CCA364280611POLH,POLR1Cc.560A>C (p.Asp187Ala)
c.188A>C (p.Asp63Ala)
c.374A>C (p.Asp125Ala)
c.308A>C (p.Asp103Ala)
c.104A>C (p.Asp35Ala)
c.945+68494A>C (n.945+68494A>C)
6g.43597765A>GCA364280612POLH,POLR1Cc.560A>G (p.Asp187Gly)
c.188A>G (p.Asp63Gly)
c.374A>G (p.Asp125Gly)
c.308A>G (p.Asp103Gly)
c.104A>G (p.Asp35Gly)
c.945+68494A>G (n.945+68494A>G)
6g.43597765A>TCA364280613POLH,POLR1Cc.560A>T (p.Asp187Val)
c.188A>T (p.Asp63Val)
c.374A>T (p.Asp125Val)
c.308A>T (p.Asp103Val)
c.104A>T (p.Asp35Val)
c.945+68494A>T (n.945+68494A>T)
6g.43597766C>ACA364280614POLH,POLR1Cc.561C>A (p.Asp187Glu)
c.189C>A (p.Asp63Glu)
c.375C>A (p.Asp125Glu)
c.309C>A (p.Asp103Glu)
c.105C>A (p.Asp35Glu)
c.945+68495C>A (n.945+68495C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597766C=CA1624580999POLH,POLR1Cc.561C= (p.Asp187=)
c.189C= (p.Asp63=)
c.375C= (p.Asp125=)
c.309C= (p.Asp103=)
c.105C= (p.Asp35=)
c.945+68495C= (n.945+68495C=)
6g.43597766C>GCA364280615POLH,POLR1Cc.561C>G (p.Asp187Glu)
c.189C>G (p.Asp63Glu)
c.375C>G (p.Asp125Glu)
c.309C>G (p.Asp103Glu)
c.105C>G (p.Asp35Glu)
c.945+68495C>G (n.945+68495C>G)
6g.43597766C>TCA450297329POLH,POLR1Cc.561C>T (p.Asp187=)
c.189C>T (p.Asp63=)
c.375C>T (p.Asp125=)
c.309C>T (p.Asp103=)
c.105C>T (p.Asp35=)
c.945+68495C>T (n.945+68495C>T)
 gnomAD v4
6g.43597767C>ACA364280616POLH,POLR1Cc.562C>A (p.Leu188Met)
c.190C>A (p.Leu64Met)
c.376C>A (p.Leu126Met)
c.310C>A (p.Leu104Met)
c.106C>A (p.Leu36Met)
c.945+68496C>A (n.945+68496C>A)
6g.43597767C=CA1624581001POLH,POLR1Cc.562C= (p.Leu188=)
c.190C= (p.Leu64=)
c.376C= (p.Leu126=)
c.310C= (p.Leu104=)
c.106C= (p.Leu36=)
c.945+68496C= (n.945+68496C=)
6g.43597767C>GCA364280617POLH,POLR1Cc.562C>G (p.Leu188Val)
c.190C>G (p.Leu64Val)
c.376C>G (p.Leu126Val)
c.310C>G (p.Leu104Val)
c.106C>G (p.Leu36Val)
c.945+68496C>G (n.945+68496C>G)
 gnomAD v4
6g.43597767C>TCA3827017POLH,POLR1Cc.562C>T (p.Leu188=)
c.190C>T (p.Leu64=)
c.376C>T (p.Leu126=)
c.310C>T (p.Leu104=)
c.106C>T (p.Leu36=)
c.945+68496C>T (n.945+68496C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597768T>ACA364280619POLH,POLR1Cc.563T>A (p.Leu188Gln)
c.191T>A (p.Leu64Gln)
c.377T>A (p.Leu126Gln)
c.311T>A (p.Leu104Gln)
c.107T>A (p.Leu36Gln)
c.945+68497T>A (n.945+68497T>A)
6g.43597768T>CCA364280620POLH,POLR1Cc.563T>C (p.Leu188Pro)
c.191T>C (p.Leu64Pro)
c.377T>C (p.Leu126Pro)
c.311T>C (p.Leu104Pro)
c.107T>C (p.Leu36Pro)
c.945+68497T>C (n.945+68497T>C)
6g.43597768T>GCA364280618POLH,POLR1Cc.563T>G (p.Leu188Arg)
c.191T>G (p.Leu64Arg)
c.377T>G (p.Leu126Arg)
c.311T>G (p.Leu104Arg)
c.107T>G (p.Leu36Arg)
c.945+68497T>G (n.945+68497T>G)
6g.43597769G>ACA450297330POLH,POLR1Cc.564G>A (p.Leu188=)
c.192G>A (p.Leu64=)
c.378G>A (p.Leu126=)
c.312G>A (p.Leu104=)
c.108G>A (p.Leu36=)
c.945+68498G>A (n.945+68498G>A)
6g.43597769G>CCA450297331POLH,POLR1Cc.564G>C (p.Leu188=)
c.192G>C (p.Leu64=)
c.378G>C (p.Leu126=)
c.312G>C (p.Leu104=)
c.108G>C (p.Leu36=)
c.945+68498G>C (n.945+68498G>C)
6g.43597769G>TCA450297332POLH,POLR1Cc.564G>T (p.Leu188=)
c.192G>T (p.Leu64=)
c.378G>T (p.Leu126=)
c.312G>T (p.Leu104=)
c.108G>T (p.Leu36=)
c.945+68498G>T (n.945+68498G>T)
6g.43597770C>ACA364280623POLH,POLR1Cc.565C>A (p.Gln189Lys)
c.193C>A (p.Gln65Lys)
c.379C>A (p.Gln127Lys)
c.313C>A (p.Gln105Lys)
c.109C>A (p.Gln37Lys)
c.945+68499C>A (n.945+68499C>A)
6g.43597770C=CA1624581003POLH,POLR1Cc.565C= (p.Gln189=)
c.193C= (p.Gln65=)
c.379C= (p.Gln127=)
c.313C= (p.Gln105=)
c.109C= (p.Gln37=)
c.945+68499C= (n.945+68499C=)
6g.43597770C>GCA364280621POLH,POLR1Cc.565C>G (p.Gln189Glu)
c.193C>G (p.Gln65Glu)
c.379C>G (p.Gln127Glu)
c.313C>G (p.Gln105Glu)
c.109C>G (p.Gln37Glu)
c.945+68499C>G (n.945+68499C>G)
6g.43597770C>TCA364280622POLH,POLR1Cc.565C>T (p.Gln189Ter)
c.193C>T (p.Gln65Ter)
c.379C>T (p.Gln127Ter)
c.313C>T (p.Gln105Ter)
c.109C>T (p.Gln37Ter)
c.945+68499C>T (n.945+68499C>T)
6g.43597771A>CCA364280626POLH,POLR1Cc.566A>C (p.Gln189Pro)
c.194A>C (p.Gln65Pro)
c.380A>C (p.Gln127Pro)
c.314A>C (p.Gln105Pro)
c.110A>C (p.Gln37Pro)
c.945+68500A>C (n.945+68500A>C)
6g.43597771A>GCA364280628POLH,POLR1Cc.566A>G (p.Gln189Arg)
c.194A>G (p.Gln65Arg)
c.380A>G (p.Gln127Arg)
c.314A>G (p.Gln105Arg)
c.110A>G (p.Gln37Arg)
c.945+68500A>G (n.945+68500A>G)
6g.43597771A>TCA364280629POLH,POLR1Cc.566A>T (p.Gln189Leu)
c.194A>T (p.Gln65Leu)
c.380A>T (p.Gln127Leu)
c.314A>T (p.Gln105Leu)
c.110A>T (p.Gln37Leu)
c.945+68500A>T (n.945+68500A>T)
6g.43597771_43597772dupCA1088418539POLH,POLR1Cc.566_567dup (p.Leu190SerfsTer7)
c.194_195dup (p.Leu66SerfsTer7)
c.380_381dup (p.Leu128SerfsTer7)
c.314_315dup (p.Leu106SerfsTer7)
c.110_111dup (p.Leu38SerfsTer7)
c.945+68500_945+68501dup (n.945+68500_945+68501dup)
 dbSNP gnomAD v3 gnomAD v4
6g.43597772G>ACA450297333POLH,POLR1Cc.567G>A (p.Gln189=)
c.195G>A (p.Gln65=)
c.381G>A (p.Gln127=)
c.315G>A (p.Gln105=)
c.111G>A (p.Gln37=)
c.945+68501G>A (n.945+68501G>A)
6g.43597772G>CCA364280632POLH,POLR1Cc.567G>C (p.Gln189His)
c.195G>C (p.Gln65His)
c.381G>C (p.Gln127His)
c.315G>C (p.Gln105His)
c.111G>C (p.Gln37His)
c.945+68501G>C (n.945+68501G>C)
 dbSNP gnomAD v3 gnomAD v4
6g.43597772G=CA1624581005POLH,POLR1Cc.567G= (p.Gln189=)
c.195G= (p.Gln65=)
c.381G= (p.Gln127=)
c.315G= (p.Gln105=)
c.111G= (p.Gln37=)
c.945+68501G= (n.945+68501G=)
6g.43597772G>TCA364280634POLH,POLR1Cc.567G>T (p.Gln189His)
c.195G>T (p.Gln65His)
c.381G>T (p.Gln127His)
c.315G>T (p.Gln105His)
c.111G>T (p.Gln37His)
c.945+68501G>T (n.945+68501G>T)
6g.43597773C>ACA364280637POLH,POLR1Cc.568C>A (p.Leu190Ile)
c.196C>A (p.Leu66Ile)
c.382C>A (p.Leu128Ile)
c.316C>A (p.Leu106Ile)
c.112C>A (p.Leu38Ile)
c.945+68502C>A (n.945+68502C>A)
 COSMIC
6g.43597773C=CA1624581008POLH,POLR1Cc.568C= (p.Leu190=)
c.196C= (p.Leu66=)
c.382C= (p.Leu128=)
c.316C= (p.Leu106=)
c.112C= (p.Leu38=)
c.945+68502C= (n.945+68502C=)
6g.43597773C>GCA364280640POLH,POLR1Cc.568C>G (p.Leu190Val)
c.196C>G (p.Leu66Val)
c.382C>G (p.Leu128Val)
c.316C>G (p.Leu106Val)
c.112C>G (p.Leu38Val)
c.945+68502C>G (n.945+68502C>G)
6g.43597773C>TCA364280642POLH,POLR1Cc.568C>T (p.Leu190Phe)
c.196C>T (p.Leu66Phe)
c.382C>T (p.Leu128Phe)
c.316C>T (p.Leu106Phe)
c.112C>T (p.Leu38Phe)
c.945+68502C>T (n.945+68502C>T)
 dbSNP gnomAD v2 gnomAD v4
6g.43597774T>ACA364280645POLH,POLR1Cc.569T>A (p.Leu190His)
c.197T>A (p.Leu66His)
c.383T>A (p.Leu128His)
c.317T>A (p.Leu106His)
c.113T>A (p.Leu38His)
c.945+68503T>A (n.945+68503T>A)
6g.43597774T>CCA364280647POLH,POLR1Cc.569T>C (p.Leu190Pro)
c.197T>C (p.Leu66Pro)
c.383T>C (p.Leu128Pro)
c.317T>C (p.Leu106Pro)
c.113T>C (p.Leu38Pro)
c.945+68503T>C (n.945+68503T>C)
6g.43597774T>GCA364280649POLH,POLR1Cc.569T>G (p.Leu190Arg)
c.197T>G (p.Leu66Arg)
c.383T>G (p.Leu128Arg)
c.317T>G (p.Leu106Arg)
c.113T>G (p.Leu38Arg)
c.945+68503T>G (n.945+68503T>G)
6g.43597775C>ACA450297334POLH,POLR1Cc.570C>A (p.Leu190=)
c.198C>A (p.Leu66=)
c.384C>A (p.Leu128=)
c.318C>A (p.Leu106=)
c.114C>A (p.Leu38=)
c.945+68504C>A (n.945+68504C>A)
6g.43597775C>GCA450297335POLH,POLR1Cc.570C>G (p.Leu190=)
c.198C>G (p.Leu66=)
c.384C>G (p.Leu128=)
c.318C>G (p.Leu106=)
c.114C>G (p.Leu38=)
c.945+68504C>G (n.945+68504C>G)
6g.43597775C>TCA450297336POLH,POLR1Cc.570C>T (p.Leu190=)
c.198C>T (p.Leu66=)
c.384C>T (p.Leu128=)
c.318C>T (p.Leu106=)
c.114C>T (p.Leu38=)
c.945+68504C>T (n.945+68504C>T)
6g.43597776A=CA1624581010POLH,POLR1Cc.571A= (p.Thr191=)
c.199A= (p.Thr67=)
c.385A= (p.Thr129=)
c.319A= (p.Thr107=)
c.115A= (p.Thr39=)
c.945+68505A= (n.945+68505A=)
6g.43597776A>CCA364280655POLH,POLR1Cc.571A>C (p.Thr191Pro)
c.199A>C (p.Thr67Pro)
c.385A>C (p.Thr129Pro)
c.319A>C (p.Thr107Pro)
c.115A>C (p.Thr39Pro)
c.945+68505A>C (n.945+68505A>C)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.43597776A>GCA138324603POLH,POLR1Cc.571A>G (p.Thr191Ala)
c.199A>G (p.Thr67Ala)
c.385A>G (p.Thr129Ala)
c.319A>G (p.Thr107Ala)
c.115A>G (p.Thr39Ala)
c.945+68505A>G (n.945+68505A>G)
 dbSNP gnomAD v4
6g.43597776A>TCA364280653POLH,POLR1Cc.571A>T (p.Thr191Ser)
c.199A>T (p.Thr67Ser)
c.385A>T (p.Thr129Ser)
c.319A>T (p.Thr107Ser)
c.115A>T (p.Thr39Ser)
c.945+68505A>T (n.945+68505A>T)
6g.43597777C>ACA364280659POLH,POLR1Cc.572C>A (p.Thr191Asn)
c.200C>A (p.Thr67Asn)
c.386C>A (p.Thr129Asn)
c.320C>A (p.Thr107Asn)
c.116C>A (p.Thr39Asn)
c.945+68506C>A (n.945+68506C>A)
6g.43597777C>GCA364280660POLH,POLR1Cc.572C>G (p.Thr191Ser)
c.200C>G (p.Thr67Ser)
c.386C>G (p.Thr129Ser)
c.320C>G (p.Thr107Ser)
c.116C>G (p.Thr39Ser)
c.945+68506C>G (n.945+68506C>G)
6g.43597777C>TCA364280662POLH,POLR1Cc.572C>T (p.Thr191Ile)
c.200C>T (p.Thr67Ile)
c.386C>T (p.Thr129Ile)
c.320C>T (p.Thr107Ile)
c.116C>T (p.Thr39Ile)
c.945+68506C>T (n.945+68506C>T)
6g.43597778C>ACA138324611POLH,POLR1Cc.573C>A (p.Thr191=)
c.201C>A (p.Thr67=)
c.387C>A (p.Thr129=)
c.321C>A (p.Thr107=)
c.117C>A (p.Thr39=)
c.945+68507C>A (n.945+68507C>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597778C=CA1624581012POLH,POLR1Cc.573C= (p.Thr191=)
c.201C= (p.Thr67=)
c.387C= (p.Thr129=)
c.321C= (p.Thr107=)
c.117C= (p.Thr39=)
c.945+68507C= (n.945+68507C=)
6g.43597778C>GCA450297337POLH,POLR1Cc.573C>G (p.Thr191=)
c.201C>G (p.Thr67=)
c.387C>G (p.Thr129=)
c.321C>G (p.Thr107=)
c.117C>G (p.Thr39=)
c.945+68507C>G (n.945+68507C>G)
 gnomAD v4
6g.43597778C>TCA3827018POLH,POLR1Cc.573C>T (p.Thr191=)
c.201C>T (p.Thr67=)
c.387C>T (p.Thr129=)
c.321C>T (p.Thr107=)
c.117C>T (p.Thr39=)
c.945+68507C>T (n.945+68507C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
6g.43597779G>ACA3827019POLH,POLR1Cc.574G>A (p.Val192Met)
c.202G>A (p.Val68Met)
c.388G>A (p.Val130Met)
c.322G>A (p.Val108Met)
c.118G>A (p.Val40Met)
c.945+68508G>A (n.945+68508G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597779G>CCA364280671POLH,POLR1Cc.574G>C (p.Val192Leu)
c.202G>C (p.Val68Leu)
c.388G>C (p.Val130Leu)
c.322G>C (p.Val108Leu)
c.118G>C (p.Val40Leu)
c.945+68508G>C (n.945+68508G>C)
6g.43597779G=CA1624581014POLH,POLR1Cc.574G= (p.Val192=)
c.202G= (p.Val68=)
c.388G= (p.Val130=)
c.322G= (p.Val108=)
c.118G= (p.Val40=)
c.945+68508G= (n.945+68508G=)
6g.43597779G>TCA364280674POLH,POLR1Cc.574G>T (p.Val192Leu)
c.202G>T (p.Val68Leu)
c.388G>T (p.Val130Leu)
c.322G>T (p.Val108Leu)
c.118G>T (p.Val40Leu)
c.945+68508G>T (n.945+68508G>T)
6g.43597780T>ACA364280677POLH,POLR1Cc.575T>A (p.Val192Glu)
c.203T>A (p.Val68Glu)
c.389T>A (p.Val130Glu)
c.323T>A (p.Val108Glu)
c.119T>A (p.Val40Glu)
c.945+68509T>A (n.945+68509T>A)
6g.43597780T>CCA364280679POLH,POLR1Cc.575T>C (p.Val192Ala)
c.203T>C (p.Val68Ala)
c.389T>C (p.Val130Ala)
c.323T>C (p.Val108Ala)
c.119T>C (p.Val40Ala)
c.945+68509T>C (n.945+68509T>C)
6g.43597780T>GCA364280680POLH,POLR1Cc.575T>G (p.Val192Gly)
c.203T>G (p.Val68Gly)
c.389T>G (p.Val130Gly)
c.323T>G (p.Val108Gly)
c.119T>G (p.Val40Gly)
c.945+68509T>G (n.945+68509T>G)
6g.43597781G>ACA450297338POLH,POLR1Cc.576G>A (p.Val192=)
c.204G>A (p.Val68=)
c.390G>A (p.Val130=)
c.324G>A (p.Val108=)
c.120G>A (p.Val40=)
c.945+68510G>A (n.945+68510G>A)
6g.43597781G>CCA450297339POLH,POLR1Cc.576G>C (p.Val192=)
c.204G>C (p.Val68=)
c.390G>C (p.Val130=)
c.324G>C (p.Val108=)
c.120G>C (p.Val40=)
c.945+68510G>C (n.945+68510G>C)
6g.43597781G>TCA450297340POLH,POLR1Cc.576G>T (p.Val192=)
c.204G>T (p.Val68=)
c.390G>T (p.Val130=)
c.324G>T (p.Val108=)
c.120G>T (p.Val40=)
c.945+68510G>T (n.945+68510G>T)
6g.43597782G>ACA364280688POLH,POLR1Cc.577G>A (p.Gly193Arg)
c.205G>A (p.Gly69Arg)
c.391G>A (p.Gly131Arg)
c.325G>A (p.Gly109Arg)
c.121G>A (p.Gly41Arg)
c.945+68511G>A (n.945+68511G>A)
6g.43597782G>CCA364280686POLH,POLR1Cc.577G>C (p.Gly193Arg)
c.205G>C (p.Gly69Arg)
c.391G>C (p.Gly131Arg)
c.325G>C (p.Gly109Arg)
c.121G>C (p.Gly41Arg)
c.945+68511G>C (n.945+68511G>C)
6g.43597782G>TCA364280683POLH,POLR1Cc.577G>T (p.Gly193Ter)
c.205G>T (p.Gly69Ter)
c.391G>T (p.Gly131Ter)
c.325G>T (p.Gly109Ter)
c.121G>T (p.Gly41Ter)
c.945+68511G>T (n.945+68511G>T)
6g.43597783G>ACA3827020POLH,POLR1Cc.578G>A (p.Gly193Glu)
c.206G>A (p.Gly69Glu)
c.392G>A (p.Gly131Glu)
c.326G>A (p.Gly109Glu)
c.122G>A (p.Gly41Glu)
c.945+68512G>A (n.945+68512G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597783G>CCA364280692POLH,POLR1Cc.578G>C (p.Gly193Ala)
c.206G>C (p.Gly69Ala)
c.392G>C (p.Gly131Ala)
c.326G>C (p.Gly109Ala)
c.122G>C (p.Gly41Ala)
c.945+68512G>C (n.945+68512G>C)
6g.43597783G=CA1624581016POLH,POLR1Cc.578G= (p.Gly193=)
c.206G= (p.Gly69=)
c.392G= (p.Gly131=)
c.326G= (p.Gly109=)
c.122G= (p.Gly41=)
c.945+68512G= (n.945+68512G=)
6g.43597783G>TCA364280694POLH,POLR1Cc.578G>T (p.Gly193Val)
c.206G>T (p.Gly69Val)
c.392G>T (p.Gly131Val)
c.326G>T (p.Gly109Val)
c.122G>T (p.Gly41Val)
c.945+68512G>T (n.945+68512G>T)
6g.43597784A=CA1624581018POLH,POLR1Cc.579A= (p.Gly193=)
c.207A= (p.Gly69=)
c.393A= (p.Gly131=)
c.327A= (p.Gly109=)
c.123A= (p.Gly41=)
c.945+68513A= (n.945+68513A=)
6g.43597784A>CCA450297341POLH,POLR1Cc.579A>C (p.Gly193=)
c.207A>C (p.Gly69=)
c.393A>C (p.Gly131=)
c.327A>C (p.Gly109=)
c.123A>C (p.Gly41=)
c.945+68513A>C (n.945+68513A>C)
6g.43597784A>GCA450297342POLH,POLR1Cc.579A>G (p.Gly193=)
c.207A>G (p.Gly69=)
c.393A>G (p.Gly131=)
c.327A>G (p.Gly109=)
c.123A>G (p.Gly41=)
c.945+68513A>G (n.945+68513A>G)
 dbSNP gnomAD v4
6g.43597784A>TCA450297343POLH,POLR1Cc.579A>T (p.Gly193=)
c.207A>T (p.Gly69=)
c.393A>T (p.Gly131=)
c.327A>T (p.Gly109=)
c.123A>T (p.Gly41=)
c.945+68513A>T (n.945+68513A>T)
6g.43597785G>ACA364280697POLH,POLR1Cc.580G>A (p.Ala194Thr)
c.208G>A (p.Ala70Thr)
c.394G>A (p.Ala132Thr)
c.328G>A (p.Ala110Thr)
c.124G>A (p.Ala42Thr)
c.945+68514G>A (n.945+68514G>A)
 gnomAD v4
6g.43597785G>CCA364280698POLH,POLR1Cc.580G>C (p.Ala194Pro)
c.208G>C (p.Ala70Pro)
c.394G>C (p.Ala132Pro)
c.328G>C (p.Ala110Pro)
c.124G>C (p.Ala42Pro)
c.945+68514G>C (n.945+68514G>C)
6g.43597785G>TCA364280701POLH,POLR1Cc.580G>T (p.Ala194Ser)
c.208G>T (p.Ala70Ser)
c.394G>T (p.Ala132Ser)
c.328G>T (p.Ala110Ser)
c.124G>T (p.Ala42Ser)
c.945+68514G>T (n.945+68514G>T)
6g.43597786C>ACA364280704POLH,POLR1Cc.581C>A (p.Ala194Glu)
c.209C>A (p.Ala70Glu)
c.395C>A (p.Ala132Glu)
c.329C>A (p.Ala110Glu)
c.125C>A (p.Ala42Glu)
c.945+68515C>A (n.945+68515C>A)
6g.43597786C=CA1624581020POLH,POLR1Cc.581C= (p.Ala194=)
c.209C= (p.Ala70=)
c.395C= (p.Ala132=)
c.329C= (p.Ala110=)
c.125C= (p.Ala42=)
c.945+68515C= (n.945+68515C=)
6g.43597786C>GCA364280706POLH,POLR1Cc.581C>G (p.Ala194Gly)
c.209C>G (p.Ala70Gly)
c.395C>G (p.Ala132Gly)
c.329C>G (p.Ala110Gly)
c.125C>G (p.Ala42Gly)
c.945+68515C>G (n.945+68515C>G)
 dbSNP gnomAD v3 gnomAD v4
6g.43597786C>TCA364280707POLH,POLR1Cc.581C>T (p.Ala194Val)
c.209C>T (p.Ala70Val)
c.395C>T (p.Ala132Val)
c.329C>T (p.Ala110Val)
c.125C>T (p.Ala42Val)
c.945+68515C>T (n.945+68515C>T)
6g.43597787A=CA1624581023POLH,POLR1Cc.582A= (p.Ala194=)
c.210A= (p.Ala70=)
c.396A= (p.Ala132=)
c.330A= (p.Ala110=)
c.126A= (p.Ala42=)
c.945+68516A= (n.945+68516A=)
6g.43597787A>CCA450297344POLH,POLR1Cc.582A>C (p.Ala194=)
c.210A>C (p.Ala70=)
c.396A>C (p.Ala132=)
c.330A>C (p.Ala110=)
c.126A>C (p.Ala42=)
c.945+68516A>C (n.945+68516A>C)
6g.43597787A>GCA450297345POLH,POLR1Cc.582A>G (p.Ala194=)
c.210A>G (p.Ala70=)
c.396A>G (p.Ala132=)
c.330A>G (p.Ala110=)
c.126A>G (p.Ala42=)
c.945+68516A>G (n.945+68516A>G)
6g.43597787A>TCA450297346POLH,POLR1Cc.582A>T (p.Ala194=)
c.210A>T (p.Ala70=)
c.396A>T (p.Ala132=)
c.330A>T (p.Ala110=)
c.126A>T (p.Ala42=)
c.945+68516A>T (n.945+68516A>T)
 ClinVar dbSNP gnomAD v2 gnomAD v4
6g.43597788G>ACA364280711POLH,POLR1Cc.583G>A (p.Val195Met)
c.211G>A (p.Val71Met)
c.397G>A (p.Val133Met)
c.331G>A (p.Val111Met)
c.127G>A (p.Val43Met)
c.945+68517G>A (n.945+68517G>A)
 COSMIC
6g.43597788G>CCA364280713POLH,POLR1Cc.583G>C (p.Val195Leu)
c.211G>C (p.Val71Leu)
c.397G>C (p.Val133Leu)
c.331G>C (p.Val111Leu)
c.127G>C (p.Val43Leu)
c.945+68517G>C (n.945+68517G>C)
6g.43597788G>TCA364280715POLH,POLR1Cc.583G>T (p.Val195Leu)
c.211G>T (p.Val71Leu)
c.397G>T (p.Val133Leu)
c.331G>T (p.Val111Leu)
c.127G>T (p.Val43Leu)
c.945+68517G>T (n.945+68517G>T)
6g.43597789T>ACA364280720POLH,POLR1Cc.584T>A (p.Val195Glu)
c.212T>A (p.Val71Glu)
c.398T>A (p.Val133Glu)
c.332T>A (p.Val111Glu)
c.128T>A (p.Val43Glu)
c.945+68518T>A (n.945+68518T>A)
6g.43597789T>CCA364280722POLH,POLR1Cc.584T>C (p.Val195Ala)
c.212T>C (p.Val71Ala)
c.398T>C (p.Val133Ala)
c.332T>C (p.Val111Ala)
c.128T>C (p.Val43Ala)
c.945+68518T>C (n.945+68518T>C)
6g.43597789T>GCA364280718POLH,POLR1Cc.584T>G (p.Val195Gly)
c.212T>G (p.Val71Gly)
c.398T>G (p.Val133Gly)
c.332T>G (p.Val111Gly)
c.128T>G (p.Val43Gly)
c.945+68518T>G (n.945+68518T>G)
6g.43597790G>ACA450297347POLH,POLR1Cc.585G>A (p.Val195=)
c.213G>A (p.Val71=)
c.399G>A (p.Val133=)
c.333G>A (p.Val111=)
c.129G>A (p.Val43=)
c.945+68519G>A (n.945+68519G>A)
6g.43597790G>CCA3827021POLH,POLR1Cc.585G>C (p.Val195=)
c.213G>C (p.Val71=)
c.399G>C (p.Val133=)
c.333G>C (p.Val111=)
c.129G>C (p.Val43=)
c.945+68519G>C (n.945+68519G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597790G=CA1624581025POLH,POLR1Cc.585G= (p.Val195=)
c.213G= (p.Val71=)
c.399G= (p.Val133=)
c.333G= (p.Val111=)
c.129G= (p.Val43=)
c.945+68519G= (n.945+68519G=)
6g.43597790G>TCA450297348POLH,POLR1Cc.585G>T (p.Val195=)
c.213G>T (p.Val71=)
c.399G>T (p.Val133=)
c.333G>T (p.Val111=)
c.129G>T (p.Val43=)
c.945+68519G>T (n.945+68519G>T)
6g.43597791A>CCA364280725POLH,POLR1Cc.586A>C (p.Ile196Leu)
c.214A>C (p.Ile72Leu)
c.400A>C (p.Ile134Leu)
c.334A>C (p.Ile112Leu)
c.130A>C (p.Ile44Leu)
c.945+68520A>C (n.945+68520A>C)
6g.43597791A>GCA364280728POLH,POLR1Cc.586A>G (p.Ile196Val)
c.214A>G (p.Ile72Val)
c.400A>G (p.Ile134Val)
c.334A>G (p.Ile112Val)
c.130A>G (p.Ile44Val)
c.945+68520A>G (n.945+68520A>G)
6g.43597791A>TCA364280730POLH,POLR1Cc.586A>T (p.Ile196Phe)
c.214A>T (p.Ile72Phe)
c.400A>T (p.Ile134Phe)
c.334A>T (p.Ile112Phe)
c.130A>T (p.Ile44Phe)
c.945+68520A>T (n.945+68520A>T)
6g.43597792T>ACA364280738POLH,POLR1Cc.587T>A (p.Ile196Asn)
c.215T>A (p.Ile72Asn)
c.401T>A (p.Ile134Asn)
c.335T>A (p.Ile112Asn)
c.131T>A (p.Ile44Asn)
c.945+68521T>A (n.945+68521T>A)
6g.43597792T>CCA364280735POLH,POLR1Cc.587T>C (p.Ile196Thr)
c.215T>C (p.Ile72Thr)
c.401T>C (p.Ile134Thr)
c.335T>C (p.Ile112Thr)
c.131T>C (p.Ile44Thr)
c.945+68521T>C (n.945+68521T>C)
 dbSNP
6g.43597792T>GCA364280733POLH,POLR1Cc.587T>G (p.Ile196Ser)
c.215T>G (p.Ile72Ser)
c.401T>G (p.Ile134Ser)
c.335T>G (p.Ile112Ser)
c.131T>G (p.Ile44Ser)
c.945+68521T>G (n.945+68521T>G)
6g.43597792T=CA1624581027POLH,POLR1Cc.587T= (p.Ile196=)
c.215T= (p.Ile72=)
c.401T= (p.Ile134=)
c.335T= (p.Ile112=)
c.131T= (p.Ile44=)
c.945+68521T= (n.945+68521T=)
6g.43597793dupCA2678886975POLH,POLR1Cc.588dup (p.Val197CysfsTer24)
c.216dup (p.Val73CysfsTer24)
c.402dup (p.Val135CysfsTer24)
c.336dup (p.Val113CysfsTer24)
c.132dup (p.Val45CysfsTer24)
c.945+68522dup (n.945+68522dup)
 gnomAD v4
6g.43597793T>ACA450297350POLH,POLR1Cc.588T>A (p.Ile196=)
c.216T>A (p.Ile72=)
c.402T>A (p.Ile134=)
c.336T>A (p.Ile112=)
c.132T>A (p.Ile44=)
c.945+68522T>A (n.945+68522T>A)
6g.43597793T>CCA450297349POLH,POLR1Cc.588T>C (p.Ile196=)
c.216T>C (p.Ile72=)
c.402T>C (p.Ile134=)
c.336T>C (p.Ile112=)
c.132T>C (p.Ile44=)
c.945+68522T>C (n.945+68522T>C)
6g.43597793T>GCA364280740POLH,POLR1Cc.588T>G (p.Ile196Met)
c.216T>G (p.Ile72Met)
c.402T>G (p.Ile134Met)
c.336T>G (p.Ile112Met)
c.132T>G (p.Ile44Met)
c.945+68522T>G (n.945+68522T>G)
6g.43597794G>ACA364280743POLH,POLR1Cc.589G>A (p.Val197Met)
c.217G>A (p.Val73Met)
c.403G>A (p.Val135Met)
c.337G>A (p.Val113Met)
c.133G>A (p.Val45Met)
c.945+68523G>A (n.945+68523G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.43597794G>CCA364280745POLH,POLR1Cc.589G>C (p.Val197Leu)
c.217G>C (p.Val73Leu)
c.403G>C (p.Val135Leu)
c.337G>C (p.Val113Leu)
c.133G>C (p.Val45Leu)
c.945+68523G>C (n.945+68523G>C)
6g.43597794G=CA1624581029POLH,POLR1Cc.589G= (p.Val197=)
c.217G= (p.Val73=)
c.403G= (p.Val135=)
c.337G= (p.Val113=)
c.133G= (p.Val45=)
c.945+68523G= (n.945+68523G=)
6g.43597794G>TCA364280747POLH,POLR1Cc.589G>T (p.Val197Leu)
c.217G>T (p.Val73Leu)
c.403G>T (p.Val135Leu)
c.337G>T (p.Val113Leu)
c.133G>T (p.Val45Leu)
c.945+68523G>T (n.945+68523G>T)
 dbSNP gnomAD v3 gnomAD v4
6g.43597795T>ACA364280750POLH,POLR1Cc.590T>A (p.Val197Glu)
c.218T>A (p.Val73Glu)
c.404T>A (p.Val135Glu)
c.338T>A (p.Val113Glu)
c.134T>A (p.Val45Glu)
c.945+68524T>A (n.945+68524T>A)
6g.43597795T>CCA364280751POLH,POLR1Cc.590T>C (p.Val197Ala)
c.218T>C (p.Val73Ala)
c.404T>C (p.Val135Ala)
c.338T>C (p.Val113Ala)
c.134T>C (p.Val45Ala)
c.945+68524T>C (n.945+68524T>C)
 dbSNP gnomAD v2 gnomAD v4
6g.43597795T>GCA364280752POLH,POLR1Cc.590T>G (p.Val197Gly)
c.218T>G (p.Val73Gly)
c.404T>G (p.Val135Gly)
c.338T>G (p.Val113Gly)
c.134T>G (p.Val45Gly)
c.945+68524T>G (n.945+68524T>G)
 dbSNP
6g.43597795T=CA1624581030POLH,POLR1Cc.590T= (p.Val197=)
c.218T= (p.Val73=)
c.404T= (p.Val135=)
c.338T= (p.Val113=)
c.134T= (p.Val45=)
c.945+68524T= (n.945+68524T=)
6g.43597796G>ACA450297351POLH,POLR1Cc.591G>A (p.Val197=)
c.219G>A (p.Val73=)
c.405G>A (p.Val135=)
c.339G>A (p.Val113=)
c.135G>A (p.Val45=)
c.945+68525G>A (n.945+68525G>A)
6g.43597796G>CCA450297352POLH,POLR1Cc.591G>C (p.Val197=)
c.219G>C (p.Val73=)
c.405G>C (p.Val135=)
c.339G>C (p.Val113=)
c.135G>C (p.Val45=)
c.945+68525G>C (n.945+68525G>C)
6g.43597796G>TCA450297353POLH,POLR1Cc.591G>T (p.Val197=)
c.219G>T (p.Val73=)
c.405G>T (p.Val135=)
c.339G>T (p.Val113=)
c.135G>T (p.Val45=)
c.945+68525G>T (n.945+68525G>T)
6g.43597797G>ACA364280754POLH,POLR1Cc.592G>A (p.Glu198Lys)
c.220G>A (p.Glu74Lys)
c.406G>A (p.Glu136Lys)
c.340G>A (p.Glu114Lys)
c.136G>A (p.Glu46Lys)
c.945+68526G>A (n.945+68526G>A)
 dbSNP gnomAD v2 gnomAD v4
6g.43597797G>CCA364280755POLH,POLR1Cc.592G>C (p.Glu198Gln)
c.220G>C (p.Glu74Gln)
c.406G>C (p.Glu136Gln)
c.340G>C (p.Glu114Gln)
c.136G>C (p.Glu46Gln)
c.945+68526G>C (n.945+68526G>C)
6g.43597797G=CA1624581031POLH,POLR1Cc.592G= (p.Glu198=)
c.220G= (p.Glu74=)
c.406G= (p.Glu136=)
c.340G= (p.Glu114=)
c.136G= (p.Glu46=)
c.945+68526G= (n.945+68526G=)
6g.43597797G>TCA364280753POLH,POLR1Cc.592G>T (p.Glu198Ter)
c.220G>T (p.Glu74Ter)
c.406G>T (p.Glu136Ter)
c.340G>T (p.Glu114Ter)
c.136G>T (p.Glu46Ter)
c.945+68526G>T (n.945+68526G>T)
6g.43597798A>CCA364280757POLH,POLR1Cc.593A>C (p.Glu198Ala)
c.221A>C (p.Glu74Ala)
c.407A>C (p.Glu136Ala)
c.341A>C (p.Glu114Ala)
c.137A>C (p.Glu46Ala)
c.945+68527A>C (n.945+68527A>C)
6g.43597798A>GCA364280756POLH,POLR1Cc.593A>G (p.Glu198Gly)
c.221A>G (p.Glu74Gly)
c.407A>G (p.Glu136Gly)
c.341A>G (p.Glu114Gly)
c.137A>G (p.Glu46Gly)
c.945+68527A>G (n.945+68527A>G)
6g.43597798A>TCA364280758POLH,POLR1Cc.593A>T (p.Glu198Val)
c.221A>T (p.Glu74Val)
c.407A>T (p.Glu136Val)
c.341A>T (p.Glu114Val)
c.137A>T (p.Glu46Val)
c.945+68527A>T (n.945+68527A>T)
6g.43597799G>ACA450297354POLH,POLR1Cc.594G>A (p.Glu198=)
c.222G>A (p.Glu74=)
c.408G>A (p.Glu136=)
c.342G>A (p.Glu114=)
c.138G>A (p.Glu46=)
c.945+68528G>A (n.945+68528G>A)
6g.43597799G>CCA364280759POLH,POLR1Cc.594G>C (p.Glu198Asp)
c.222G>C (p.Glu74Asp)
c.408G>C (p.Glu136Asp)
c.342G>C (p.Glu114Asp)
c.138G>C (p.Glu46Asp)
c.945+68528G>C (n.945+68528G>C)
6g.43597799G>TCA364280760POLH,POLR1Cc.594G>T (p.Glu198Asp)
c.222G>T (p.Glu74Asp)
c.408G>T (p.Glu136Asp)
c.342G>T (p.Glu114Asp)
c.138G>T (p.Glu46Asp)
c.945+68528G>T (n.945+68528G>T)
6g.43597800G>ACA3827022POLH,POLR1Cc.595G>A (p.Glu199Lys)
c.223G>A (p.Glu75Lys)
c.409G>A (p.Glu137Lys)
c.343G>A (p.Glu115Lys)
c.139G>A (p.Glu47Lys)
c.945+68529G>A (n.945+68529G>A)
 dbSNP ExAC gnomAD v4
6g.43597800G>CCA364280761POLH,POLR1Cc.595G>C (p.Glu199Gln)
c.223G>C (p.Glu75Gln)
c.409G>C (p.Glu137Gln)
c.343G>C (p.Glu115Gln)
c.139G>C (p.Glu47Gln)
c.945+68529G>C (n.945+68529G>C)
6g.43597800G=CA1624581032POLH,POLR1Cc.595G= (p.Glu199=)
c.223G= (p.Glu75=)
c.409G= (p.Glu137=)
c.343G= (p.Glu115=)
c.139G= (p.Glu47=)
c.945+68529G= (n.945+68529G=)
6g.43597800G>TCA364280762POLH,POLR1Cc.595G>T (p.Glu199Ter)
c.223G>T (p.Glu75Ter)
c.409G>T (p.Glu137Ter)
c.343G>T (p.Glu115Ter)
c.139G>T (p.Glu47Ter)
c.945+68529G>T (n.945+68529G>T)
6g.43597801A>CCA364280763POLH,POLR1Cc.596A>C (p.Glu199Ala)
c.224A>C (p.Glu75Ala)
c.410A>C (p.Glu137Ala)
c.344A>C (p.Glu115Ala)
c.140A>C (p.Glu47Ala)
c.945+68530A>C (n.945+68530A>C)
6g.43597801A>GCA364280764POLH,POLR1Cc.596A>G (p.Glu199Gly)
c.224A>G (p.Glu75Gly)
c.410A>G (p.Glu137Gly)
c.344A>G (p.Glu115Gly)
c.140A>G (p.Glu47Gly)
c.945+68530A>G (n.945+68530A>G)
 gnomAD v4
6g.43597801A>TCA364280765POLH,POLR1Cc.596A>T (p.Glu199Val)
c.224A>T (p.Glu75Val)
c.410A>T (p.Glu137Val)
c.344A>T (p.Glu115Val)
c.140A>T (p.Glu47Val)
c.945+68530A>T (n.945+68530A>T)
6g.43597802A=CA1624581034POLH,POLR1Cc.597A= (p.Glu199=)
c.225A= (p.Glu75=)
c.411A= (p.Glu137=)
c.345A= (p.Glu115=)
c.141A= (p.Glu47=)
c.945+68531A= (n.945+68531A=)
6g.43597802A>CCA364280766POLH,POLR1Cc.597A>C (p.Glu199Asp)
c.225A>C (p.Glu75Asp)
c.411A>C (p.Glu137Asp)
c.345A>C (p.Glu115Asp)
c.141A>C (p.Glu47Asp)
c.945+68531A>C (n.945+68531A>C)
6g.43597802A>GCA450297355POLH,POLR1Cc.597A>G (p.Glu199=)
c.225A>G (p.Glu75=)
c.411A>G (p.Glu137=)
c.345A>G (p.Glu115=)
c.141A>G (p.Glu47=)
c.945+68531A>G (n.945+68531A>G)
6g.43597802A>TCA364280767POLH,POLR1Cc.597A>T (p.Glu199Asp)
c.225A>T (p.Glu75Asp)
c.411A>T (p.Glu137Asp)
c.345A>T (p.Glu115Asp)
c.141A>T (p.Glu47Asp)
c.945+68531A>T (n.945+68531A>T)
 dbSNP gnomAD v4
6g.43597803A=CA1624581036POLH,POLR1Cc.598A= (p.Met200=)
c.226A= (p.Met76=)
c.412A= (p.Met138=)
c.346A= (p.Met116=)
c.142A= (p.Met48=)
c.945+68532A= (n.945+68532A=)
6g.43597803A>CCA364280768POLH,POLR1Cc.598A>C (p.Met200Leu)
c.226A>C (p.Met76Leu)
c.412A>C (p.Met138Leu)
c.346A>C (p.Met116Leu)
c.142A>C (p.Met48Leu)
c.945+68532A>C (n.945+68532A>C)
6g.43597803A>GCA364280769POLH,POLR1Cc.598A>G (p.Met200Val)
c.226A>G (p.Met76Val)
c.412A>G (p.Met138Val)
c.346A>G (p.Met116Val)
c.142A>G (p.Met48Val)
c.945+68532A>G (n.945+68532A>G)
6g.43597803A>TCA364280770POLH,POLR1Cc.598A>T (p.Met200Leu)
c.226A>T (p.Met76Leu)
c.412A>T (p.Met138Leu)
c.346A>T (p.Met116Leu)
c.142A>T (p.Met48Leu)
c.945+68532A>T (n.945+68532A>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597804T>ACA364280771POLH,POLR1Cc.599T>A (p.Met200Lys)
c.227T>A (p.Met76Lys)
c.413T>A (p.Met138Lys)
c.347T>A (p.Met116Lys)
c.143T>A (p.Met48Lys)
c.945+68533T>A (n.945+68533T>A)
6g.43597804T>CCA364280773POLH,POLR1Cc.599T>C (p.Met200Thr)
c.227T>C (p.Met76Thr)
c.413T>C (p.Met138Thr)
c.347T>C (p.Met116Thr)
c.143T>C (p.Met48Thr)
c.945+68533T>C (n.945+68533T>C)
6g.43597804T>GCA364280772POLH,POLR1Cc.599T>G (p.Met200Arg)
c.227T>G (p.Met76Arg)
c.413T>G (p.Met138Arg)
c.347T>G (p.Met116Arg)
c.143T>G (p.Met48Arg)
c.945+68533T>G (n.945+68533T>G)
 dbSNP gnomAD v4
6g.43597804T=CA1624581038POLH,POLR1Cc.599T= (p.Met200=)
c.227T= (p.Met76=)
c.413T= (p.Met138=)
c.347T= (p.Met116=)
c.143T= (p.Met48=)
c.945+68533T= (n.945+68533T=)
6g.43597805G>ACA364280774POLH,POLR1Cc.600G>A (p.Met200Ile)
c.228G>A (p.Met76Ile)
c.414G>A (p.Met138Ile)
c.348G>A (p.Met116Ile)
c.144G>A (p.Met48Ile)
c.945+68534G>A (n.945+68534G>A)
6g.43597805G>CCA364280775POLH,POLR1Cc.600G>C (p.Met200Ile)
c.228G>C (p.Met76Ile)
c.414G>C (p.Met138Ile)
c.348G>C (p.Met116Ile)
c.144G>C (p.Met48Ile)
c.945+68534G>C (n.945+68534G>C)
6g.43597805G>TCA364280776POLH,POLR1Cc.600G>T (p.Met200Ile)
c.228G>T (p.Met76Ile)
c.414G>T (p.Met138Ile)
c.348G>T (p.Met116Ile)
c.144G>T (p.Met48Ile)
c.945+68534G>T (n.945+68534G>T)
6g.43597806A>CCA450297356POLH,POLR1Cc.601A>C (p.Arg201=)
c.229A>C (p.Arg77=)
c.415A>C (p.Arg139=)
c.349A>C (p.Arg117=)
c.145A>C (p.Arg49=)
c.945+68535A>C (n.945+68535A>C)
6g.43597806A>GCA364280777POLH,POLR1Cc.601A>G (p.Arg201Gly)
c.229A>G (p.Arg77Gly)
c.415A>G (p.Arg139Gly)
c.349A>G (p.Arg117Gly)
c.145A>G (p.Arg49Gly)
c.945+68535A>G (n.945+68535A>G)
6g.43597806A>TCA364280778POLH,POLR1Cc.601A>T (p.Arg201Ter)
c.229A>T (p.Arg77Ter)
c.415A>T (p.Arg139Ter)
c.349A>T (p.Arg117Ter)
c.145A>T (p.Arg49Ter)
c.945+68535A>T (n.945+68535A>T)
6g.43597807G>ACA364280779POLH,POLR1Cc.602G>A (p.Arg201Lys)
c.230G>A (p.Arg77Lys)
c.416G>A (p.Arg139Lys)
c.350G>A (p.Arg117Lys)
c.146G>A (p.Arg49Lys)
c.945+68536G>A (n.945+68536G>A)
6g.43597807G>CCA364280780POLH,POLR1Cc.602G>C (p.Arg201Thr)
c.230G>C (p.Arg77Thr)
c.416G>C (p.Arg139Thr)
c.350G>C (p.Arg117Thr)
c.146G>C (p.Arg49Thr)
c.945+68536G>C (n.945+68536G>C)
6g.43597807G>TCA364280781POLH,POLR1Cc.602G>T (p.Arg201Ile)
c.230G>T (p.Arg77Ile)
c.416G>T (p.Arg139Ile)
c.350G>T (p.Arg117Ile)
c.146G>T (p.Arg49Ile)
c.945+68536G>T (n.945+68536G>T)
6g.43597808A>CCA364280782POLH,POLR1Cc.603A>C (p.Arg201Ser)
c.231A>C (p.Arg77Ser)
c.417A>C (p.Arg139Ser)
c.351A>C (p.Arg117Ser)
c.147A>C (p.Arg49Ser)
c.945+68537A>C (n.945+68537A>C)
6g.43597808A>GCA450297357POLH,POLR1Cc.603A>G (p.Arg201=)
c.231A>G (p.Arg77=)
c.417A>G (p.Arg139=)
c.351A>G (p.Arg117=)
c.147A>G (p.Arg49=)
c.945+68537A>G (n.945+68537A>G)
6g.43597808A>TCA364280783POLH,POLR1Cc.603A>T (p.Arg201Ser)
c.231A>T (p.Arg77Ser)
c.417A>T (p.Arg139Ser)
c.351A>T (p.Arg117Ser)
c.147A>T (p.Arg49Ser)
c.945+68537A>T (n.945+68537A>T)
6g.43597809G>ACA3827024POLH,POLR1Cc.604G>A (p.Ala202Thr)
c.232G>A (p.Ala78Thr)
c.418G>A (p.Ala140Thr)
c.352G>A (p.Ala118Thr)
c.148G>A (p.Ala50Thr)
c.945+68538G>A (n.945+68538G>A)
 dbSNP ExAC gnomAD v2
6g.43597809G>CCA3827023POLH,POLR1Cc.604G>C (p.Ala202Pro)
c.232G>C (p.Ala78Pro)
c.418G>C (p.Ala140Pro)
c.352G>C (p.Ala118Pro)
c.148G>C (p.Ala50Pro)
c.945+68538G>C (n.945+68538G>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
6g.43597809G=CA1624581040POLH,POLR1Cc.604G= (p.Ala202=)
c.232G= (p.Ala78=)
c.418G= (p.Ala140=)
c.352G= (p.Ala118=)
c.148G= (p.Ala50=)
c.945+68538G= (n.945+68538G=)
6g.43597809G>TCA364280784POLH,POLR1Cc.604G>T (p.Ala202Ser)
c.232G>T (p.Ala78Ser)
c.418G>T (p.Ala140Ser)
c.352G>T (p.Ala118Ser)
c.148G>T (p.Ala50Ser)
c.945+68538G>T (n.945+68538G>T)
6g.43597810C>ACA364280785POLH,POLR1Cc.605C>A (p.Ala202Glu)
c.233C>A (p.Ala78Glu)
c.419C>A (p.Ala140Glu)
c.353C>A (p.Ala118Glu)
c.149C>A (p.Ala50Glu)
c.945+68539C>A (n.945+68539C>A)
 dbSNP gnomAD v3 gnomAD v4
6g.43597810C=CA1624581044POLH,POLR1Cc.605C= (p.Ala202=)
c.233C= (p.Ala78=)
c.419C= (p.Ala140=)
c.353C= (p.Ala118=)
c.149C= (p.Ala50=)
c.945+68539C= (n.945+68539C=)
6g.43597810C>GCA364280786POLH,POLR1Cc.605C>G (p.Ala202Gly)
c.233C>G (p.Ala78Gly)
c.419C>G (p.Ala140Gly)
c.353C>G (p.Ala118Gly)
c.149C>G (p.Ala50Gly)
c.945+68539C>G (n.945+68539C>G)
6g.43597810C>TCA364280787POLH,POLR1Cc.605C>T (p.Ala202Val)
c.233C>T (p.Ala78Val)
c.419C>T (p.Ala140Val)
c.353C>T (p.Ala118Val)
c.149C>T (p.Ala50Val)
c.945+68539C>T (n.945+68539C>T)
 dbSNP
6g.43597811A>CCA450297358POLH,POLR1Cc.606A>C (p.Ala202=)
c.234A>C (p.Ala78=)
c.420A>C (p.Ala140=)
c.354A>C (p.Ala118=)
c.150A>C (p.Ala50=)
c.945+68540A>C (n.945+68540A>C)
6g.43597811A>GCA450297359POLH,POLR1Cc.606A>G (p.Ala202=)
c.234A>G (p.Ala78=)
c.420A>G (p.Ala140=)
c.354A>G (p.Ala118=)
c.150A>G (p.Ala50=)
c.945+68540A>G (n.945+68540A>G)
6g.43597811A>TCA450297360POLH,POLR1Cc.606A>T (p.Ala202=)
c.234A>T (p.Ala78=)
c.420A>T (p.Ala140=)
c.354A>T (p.Ala118=)
c.150A>T (p.Ala50=)
c.945+68540A>T (n.945+68540A>T)
6g.43597812G>ACA364280788POLH,POLR1Cc.607G>A (p.Ala203Thr)
c.235G>A (p.Ala79Thr)
c.421G>A (p.Ala141Thr)
c.355G>A (p.Ala119Thr)
c.151G>A (p.Ala51Thr)
c.945+68541G>A (n.945+68541G>A)
6g.43597812G>CCA364280789POLH,POLR1Cc.607G>C (p.Ala203Pro)
c.235G>C (p.Ala79Pro)
c.421G>C (p.Ala141Pro)
c.355G>C (p.Ala119Pro)
c.151G>C (p.Ala51Pro)
c.945+68541G>C (n.945+68541G>C)
6g.43597812G>TCA364280790POLH,POLR1Cc.607G>T (p.Ala203Ser)
c.235G>T (p.Ala79Ser)
c.421G>T (p.Ala141Ser)
c.355G>T (p.Ala119Ser)
c.151G>T (p.Ala51Ser)
c.945+68541G>T (n.945+68541G>T)
6g.43597813C>ACA364280791POLH,POLR1Cc.608C>A (p.Ala203Asp)
c.236C>A (p.Ala79Asp)
c.422C>A (p.Ala141Asp)
c.356C>A (p.Ala119Asp)
c.152C>A (p.Ala51Asp)
c.945+68542C>A (n.945+68542C>A)
6g.43597813C>GCA364280792POLH,POLR1Cc.608C>G (p.Ala203Gly)
c.236C>G (p.Ala79Gly)
c.422C>G (p.Ala141Gly)
c.356C>G (p.Ala119Gly)
c.152C>G (p.Ala51Gly)
c.945+68542C>G (n.945+68542C>G)
6g.43597813C>TCA364280793POLH,POLR1Cc.608C>T (p.Ala203Val)
c.236C>T (p.Ala79Val)
c.422C>T (p.Ala141Val)
c.356C>T (p.Ala119Val)
c.152C>T (p.Ala51Val)
c.945+68542C>T (n.945+68542C>T)
 gnomAD v4
6g.43597814C>ACA450297361POLH,POLR1Cc.609C>A (p.Ala203=)
c.237C>A (p.Ala79=)
c.423C>A (p.Ala141=)
c.357C>A (p.Ala119=)
c.153C>A (p.Ala51=)
c.945+68543C>A (n.945+68543C>A)
6g.43597814C>GCA450297362POLH,POLR1Cc.609C>G (p.Ala203=)
c.237C>G (p.Ala79=)
c.423C>G (p.Ala141=)
c.357C>G (p.Ala119=)
c.153C>G (p.Ala51=)
c.945+68543C>G (n.945+68543C>G)
6g.43597814C>TCA450297363POLH,POLR1Cc.609C>T (p.Ala203=)
c.237C>T (p.Ala79=)
c.423C>T (p.Ala141=)
c.357C>T (p.Ala119=)
c.153C>T (p.Ala51=)
c.945+68543C>T (n.945+68543C>T)
6g.43597815A=CA1624581046POLH,POLR1Cc.610A= (p.Ile204=)
c.238A= (p.Ile80=)
c.424A= (p.Ile142=)
c.358A= (p.Ile120=)
c.154A= (p.Ile52=)
c.945+68544A= (n.945+68544A=)
6g.43597815A>CCA364280794POLH,POLR1Cc.610A>C (p.Ile204Leu)
c.238A>C (p.Ile80Leu)
c.424A>C (p.Ile142Leu)
c.358A>C (p.Ile120Leu)
c.154A>C (p.Ile52Leu)
c.945+68544A>C (n.945+68544A>C)
6g.43597815A>GCA3827025POLH,POLR1Cc.610A>G (p.Ile204Val)
c.238A>G (p.Ile80Val)
c.424A>G (p.Ile142Val)
c.358A>G (p.Ile120Val)
c.154A>G (p.Ile52Val)
c.945+68544A>G (n.945+68544A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597815A>TCA364280795POLH,POLR1Cc.610A>T (p.Ile204Leu)
c.238A>T (p.Ile80Leu)
c.424A>T (p.Ile142Leu)
c.358A>T (p.Ile120Leu)
c.154A>T (p.Ile52Leu)
c.945+68544A>T (n.945+68544A>T)
 gnomAD v4
6g.43597816T>ACA364280797POLH,POLR1Cc.611T>A (p.Ile204Lys)
c.239T>A (p.Ile80Lys)
c.425T>A (p.Ile142Lys)
c.359T>A (p.Ile120Lys)
c.155T>A (p.Ile52Lys)
c.945+68545T>A (n.945+68545T>A)
6g.43597816T>CCA364280798POLH,POLR1Cc.611T>C (p.Ile204Thr)
c.239T>C (p.Ile80Thr)
c.425T>C (p.Ile142Thr)
c.359T>C (p.Ile120Thr)
c.155T>C (p.Ile52Thr)
c.945+68545T>C (n.945+68545T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597816T>GCA364280796POLH,POLR1Cc.611T>G (p.Ile204Arg)
c.239T>G (p.Ile80Arg)
c.425T>G (p.Ile142Arg)
c.359T>G (p.Ile120Arg)
c.155T>G (p.Ile52Arg)
c.945+68545T>G (n.945+68545T>G)
6g.43597816T=CA1624581049POLH,POLR1Cc.611T= (p.Ile204=)
c.239T= (p.Ile80=)
c.425T= (p.Ile142=)
c.359T= (p.Ile120=)
c.155T= (p.Ile52=)
c.945+68545T= (n.945+68545T=)
6g.43597817A=CA1624581052POLH,POLR1Cc.612A= (p.Ile204=)
c.240A= (p.Ile80=)
c.426A= (p.Ile142=)
c.360A= (p.Ile120=)
c.156A= (p.Ile52=)
c.945+68546A= (n.945+68546A=)
6g.43597817A>CCA450297364POLH,POLR1Cc.612A>C (p.Ile204=)
c.240A>C (p.Ile80=)
c.426A>C (p.Ile142=)
c.360A>C (p.Ile120=)
c.156A>C (p.Ile52=)
c.945+68546A>C (n.945+68546A>C)
6g.43597817A>GCA3827026POLH,POLR1Cc.612A>G (p.Ile204Met)
c.240A>G (p.Ile80Met)
c.426A>G (p.Ile142Met)
c.360A>G (p.Ile120Met)
c.156A>G (p.Ile52Met)
c.945+68546A>G (n.945+68546A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597817A>TCA450297365POLH,POLR1Cc.612A>T (p.Ile204=)
c.240A>T (p.Ile80=)
c.426A>T (p.Ile142=)
c.360A>T (p.Ile120=)
c.156A>T (p.Ile52=)
c.945+68546A>T (n.945+68546A>T)
6g.43597817_43597820delinsAGAGCA1624581051POLH,POLR1Cc.612_615delinsAGAG (p.Ile204=)
c.240_243delinsAGAG (p.Ile80=)
c.426_429delinsAGAG (p.Ile142=)
c.360_363delinsAGAG (p.Ile120=)
c.156_159delinsAGAG (p.Ile52=)
c.945+68546_945+68549delinsAGAG (n.945+68546_945+68549delinsAGAG)
6g.43597818G>ACA364280799POLH,POLR1Cc.613G>A (p.Glu205Lys)
c.241G>A (p.Glu81Lys)
c.427G>A (p.Glu143Lys)
c.361G>A (p.Glu121Lys)
c.157G>A (p.Glu53Lys)
c.945+68547G>A (n.945+68547G>A)
6g.43597818G>CCA364280800POLH,POLR1Cc.613G>C (p.Glu205Gln)
c.241G>C (p.Glu81Gln)
c.427G>C (p.Glu143Gln)
c.361G>C (p.Glu121Gln)
c.157G>C (p.Glu53Gln)
c.945+68547G>C (n.945+68547G>C)
6g.43597818G>TCA364280801POLH,POLR1Cc.613G>T (p.Glu205Ter)
c.241G>T (p.Glu81Ter)
c.427G>T (p.Glu143Ter)
c.361G>T (p.Glu121Ter)
c.157G>T (p.Glu53Ter)
c.945+68547G>T (n.945+68547G>T)
6g.43597818_43597820delCA1624581055POLH,POLR1Cc.613_615del (p.Glu205del)
c.241_243del (p.Glu81del)
c.427_429del (p.Glu143del)
c.361_363del (p.Glu121del)
c.157_159del (p.Glu53del)
c.945+68547_945+68549del (n.945+68547_945+68549del)
 dbSNP
6g.43597819A=CA1624581057POLH,POLR1Cc.614A= (p.Glu205=)
c.242A= (p.Glu81=)
c.428A= (p.Glu143=)
c.362A= (p.Glu121=)
c.158A= (p.Glu53=)
c.945+68548A= (n.945+68548A=)
6g.43597819A>CCA364280804POLH,POLR1Cc.614A>C (p.Glu205Ala)
c.242A>C (p.Glu81Ala)
c.428A>C (p.Glu143Ala)
c.362A>C (p.Glu121Ala)
c.158A>C (p.Glu53Ala)
c.945+68548A>C (n.945+68548A>C)
6g.43597819A>GCA364280803POLH,POLR1Cc.614A>G (p.Glu205Gly)
c.242A>G (p.Glu81Gly)
c.428A>G (p.Glu143Gly)
c.362A>G (p.Glu121Gly)
c.158A>G (p.Glu53Gly)
c.945+68548A>G (n.945+68548A>G)
 dbSNP
6g.43597819A>TCA364280802POLH,POLR1Cc.614A>T (p.Glu205Val)
c.242A>T (p.Glu81Val)
c.428A>T (p.Glu143Val)
c.362A>T (p.Glu121Val)
c.158A>T (p.Glu53Val)
c.945+68548A>T (n.945+68548A>T)
6g.43597820G>ACA450297366POLH,POLR1Cc.615G>A (p.Glu205=)
c.243G>A (p.Glu81=)
c.429G>A (p.Glu143=)
c.363G>A (p.Glu121=)
c.159G>A (p.Glu53=)
c.945+68549G>A (n.945+68549G>A)
6g.43597820G>CCA364280805POLH,POLR1Cc.615G>C (p.Glu205Asp)
c.243G>C (p.Glu81Asp)
c.429G>C (p.Glu143Asp)
c.363G>C (p.Glu121Asp)
c.159G>C (p.Glu53Asp)
c.945+68549G>C (n.945+68549G>C)
6g.43597820G>TCA364280806POLH,POLR1Cc.615G>T (p.Glu205Asp)
c.243G>T (p.Glu81Asp)
c.429G>T (p.Glu143Asp)
c.363G>T (p.Glu121Asp)
c.159G>T (p.Glu53Asp)
c.945+68549G>T (n.945+68549G>T)
6g.43597821A=CA1624581060POLH,POLR1Cc.616A= (p.Arg206=)
c.244A= (p.Arg82=)
c.430A= (p.Arg144=)
c.364A= (p.Arg122=)
c.160A= (p.Arg54=)
c.945+68550A= (n.945+68550A=)
6g.43597821A>CCA450297367POLH,POLR1Cc.616A>C (p.Arg206=)
c.244A>C (p.Arg82=)
c.430A>C (p.Arg144=)
c.364A>C (p.Arg122=)
c.160A>C (p.Arg54=)
c.945+68550A>C (n.945+68550A>C)
 dbSNP
6g.43597821A>GCA3827027POLH,POLR1Cc.616A>G (p.Arg206Gly)
c.244A>G (p.Arg82Gly)
c.430A>G (p.Arg144Gly)
c.364A>G (p.Arg122Gly)
c.160A>G (p.Arg54Gly)
c.945+68550A>G (n.945+68550A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
6g.43597821A>TCA364280807POLH,POLR1Cc.616A>T (p.Arg206Trp)
c.244A>T (p.Arg82Trp)
c.430A>T (p.Arg144Trp)
c.364A>T (p.Arg122Trp)
c.160A>T (p.Arg54Trp)
c.945+68550A>T (n.945+68550A>T)
6g.43597822G>ACA364280808POLH,POLR1Cc.617G>A (p.Arg206Lys)
c.245G>A (p.Arg82Lys)
c.431G>A (p.Arg144Lys)
c.365G>A (p.Arg122Lys)
c.161G>A (p.Arg54Lys)
c.945+68551G>A (n.945+68551G>A)
 dbSNP gnomAD v4
6g.43597822G>CCA364280809POLH,POLR1Cc.617G>C (p.Arg206Thr)
c.245G>C (p.Arg82Thr)
c.431G>C (p.Arg144Thr)
c.365G>C (p.Arg122Thr)
c.161G>C (p.Arg54Thr)
c.945+68551G>C (n.945+68551G>C)
6g.43597822G=CA1624581061POLH,POLR1Cc.617G= (p.Arg206=)
c.245G= (p.Arg82=)
c.431G= (p.Arg144=)
c.365G= (p.Arg122=)
c.161G= (p.Arg54=)
c.945+68551G= (n.945+68551G=)
6g.43597822G>TCA364280810POLH,POLR1Cc.617G>T (p.Arg206Met)
c.245G>T (p.Arg82Met)
c.431G>T (p.Arg144Met)
c.365G>T (p.Arg122Met)
c.161G>T (p.Arg54Met)
c.945+68551G>T (n.945+68551G>T)
6g.43597823G>ACA450297368POLH,POLR1Cc.618G>A (p.Arg206=)
c.246G>A (p.Arg82=)
c.432G>A (p.Arg144=)
c.366G>A (p.Arg122=)
c.162G>A (p.Arg54=)
c.945+68552G>A (n.945+68552G>A)
6g.43597823G>CCA364280812POLH,POLR1Cc.618G>C (p.Arg206Ser)
c.246G>C (p.Arg82Ser)
c.432G>C (p.Arg144Ser)
c.366G>C (p.Arg122Ser)
c.162G>C (p.Arg54Ser)
c.945+68552G>C (n.945+68552G>C)
6g.43597823G>TCA364280811POLH,POLR1Cc.618G>T (p.Arg206Ser)
c.246G>T (p.Arg82Ser)
c.432G>T (p.Arg144Ser)
c.366G>T (p.Arg122Ser)
c.162G>T (p.Arg54Ser)
c.945+68552G>T (n.945+68552G>T)
6g.43597824G>ACA364280813POLH,POLR1Cc.619G>A (p.Glu207Lys)
c.247G>A (p.Glu83Lys)
c.433G>A (p.Glu145Lys)
c.367G>A (p.Glu123Lys)
c.163G>A (p.Glu55Lys)
c.945+68553G>A (n.945+68553G>A)
6g.43597824G>CCA364280814POLH,POLR1Cc.619G>C (p.Glu207Gln)
c.247G>C (p.Glu83Gln)
c.433G>C (p.Glu145Gln)
c.367G>C (p.Glu123Gln)
c.163G>C (p.Glu55Gln)
c.945+68553G>C (n.945+68553G>C)
6g.43597824G>TCA364280815POLH,POLR1Cc.619G>T (p.Glu207Ter)
c.247G>T (p.Glu83Ter)
c.433G>T (p.Glu145Ter)
c.367G>T (p.Glu123Ter)
c.163G>T (p.Glu55Ter)
c.945+68553G>T (n.945+68553G>T)
6g.43597825A>CCA364280816POLH,POLR1Cc.620A>C (p.Glu207Ala)
c.248A>C (p.Glu83Ala)
c.434A>C (p.Glu145Ala)
c.368A>C (p.Glu123Ala)
c.164A>C (p.Glu55Ala)
c.945+68554A>C (n.945+68554A>C)
6g.43597825A>GCA364280817POLH,POLR1Cc.620A>G (p.Glu207Gly)
c.248A>G (p.Glu83Gly)
c.434A>G (p.Glu145Gly)
c.368A>G (p.Glu123Gly)
c.164A>G (p.Glu55Gly)
c.945+68554A>G (n.945+68554A>G)
6g.43597825A>TCA364280818POLH,POLR1Cc.620A>T (p.Glu207Val)
c.248A>T (p.Glu83Val)
c.434A>T (p.Glu145Val)
c.368A>T (p.Glu123Val)
c.164A>T (p.Glu55Val)
c.945+68554A>T (n.945+68554A>T)
6g.43597826G>ACA450297369POLH,POLR1Cc.621G>A (p.Glu207=)
c.249G>A (p.Glu83=)
c.435G>A (p.Glu145=)
c.369G>A (p.Glu123=)
c.165G>A (p.Glu55=)
c.945+68555G>A (n.945+68555G>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597826G>CCA364280819POLH,POLR1Cc.621G>C (p.Glu207Asp)
c.249G>C (p.Glu83Asp)
c.435G>C (p.Glu145Asp)
c.369G>C (p.Glu123Asp)
c.165G>C (p.Glu55Asp)
c.945+68555G>C (n.945+68555G>C)
6g.43597826G=CA1624581062POLH,POLR1Cc.621G= (p.Glu207=)
c.249G= (p.Glu83=)
c.435G= (p.Glu145=)
c.369G= (p.Glu123=)
c.165G= (p.Glu55=)
c.945+68555G= (n.945+68555G=)
6g.43597826G>TCA364280820POLH,POLR1Cc.621G>T (p.Glu207Asp)
c.249G>T (p.Glu83Asp)
c.435G>T (p.Glu145Asp)
c.369G>T (p.Glu123Asp)
c.165G>T (p.Glu55Asp)
c.945+68555G>T (n.945+68555G>T)
 gnomAD v4
6g.43597827A>CCA364280821POLH,POLR1Cc.622A>C (p.Thr208Pro)
c.250A>C (p.Thr84Pro)
c.436A>C (p.Thr146Pro)
c.370A>C (p.Thr124Pro)
c.166A>C (p.Thr56Pro)
c.945+68556A>C (n.945+68556A>C)
6g.43597827A>GCA364280822POLH,POLR1Cc.622A>G (p.Thr208Ala)
c.250A>G (p.Thr84Ala)
c.436A>G (p.Thr146Ala)
c.370A>G (p.Thr124Ala)
c.166A>G (p.Thr56Ala)
c.945+68556A>G (n.945+68556A>G)
6g.43597827A>TCA364280823POLH,POLR1Cc.622A>T (p.Thr208Ser)
c.250A>T (p.Thr84Ser)
c.436A>T (p.Thr146Ser)
c.370A>T (p.Thr124Ser)
c.166A>T (p.Thr56Ser)
c.945+68556A>T (n.945+68556A>T)
6g.43597828C>ACA364280824POLH,POLR1Cc.623C>A (p.Thr208Asn)
c.251C>A (p.Thr84Asn)
c.437C>A (p.Thr146Asn)
c.371C>A (p.Thr124Asn)
c.167C>A (p.Thr56Asn)
c.945+68557C>A (n.945+68557C>A)
6g.43597828C>GCA364280825POLH,POLR1Cc.623C>G (p.Thr208Ser)
c.251C>G (p.Thr84Ser)
c.437C>G (p.Thr146Ser)
c.371C>G (p.Thr124Ser)
c.167C>G (p.Thr56Ser)
c.945+68557C>G (n.945+68557C>G)
6g.43597828C>TCA364280826POLH,POLR1Cc.623C>T (p.Thr208Ile)
c.251C>T (p.Thr84Ile)
c.437C>T (p.Thr146Ile)
c.371C>T (p.Thr124Ile)
c.167C>T (p.Thr56Ile)
c.945+68557C>T (n.945+68557C>T)
6g.43597829T>ACA450297370POLH,POLR1Cc.624T>A (p.Thr208=)
c.252T>A (p.Thr84=)
c.438T>A (p.Thr146=)
c.372T>A (p.Thr124=)
c.168T>A (p.Thr56=)
c.945+68558T>A (n.945+68558T>A)
6g.43597829T>CCA450297371POLH,POLR1Cc.624T>C (p.Thr208=)
c.252T>C (p.Thr84=)
c.438T>C (p.Thr146=)
c.372T>C (p.Thr124=)
c.168T>C (p.Thr56=)
c.945+68558T>C (n.945+68558T>C)
 gnomAD v4
6g.43597829T>GCA450297372POLH,POLR1Cc.624T>G (p.Thr208=)
c.252T>G (p.Thr84=)
c.438T>G (p.Thr146=)
c.372T>G (p.Thr124=)
c.168T>G (p.Thr56=)
c.945+68558T>G (n.945+68558T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
6g.43597829T=CA1624581064POLH,POLR1Cc.624T= (p.Thr208=)
c.252T= (p.Thr84=)
c.438T= (p.Thr146=)
c.372T= (p.Thr124=)
c.168T= (p.Thr56=)
c.945+68558T= (n.945+68558T=)
6g.43597830G>ACA364280829POLH,POLR1Cc.625G>A (p.Gly209Ser)
c.253G>A (p.Gly85Ser)
c.439G>A (p.Gly147Ser)
c.373G>A (p.Gly125Ser)
c.169G>A (p.Gly57Ser)
c.945+68559G>A (n.945+68559G>A)
6g.43597830G>CCA364280828POLH,POLR1Cc.625G>C (p.Gly209Arg)
c.253G>C (p.Gly85Arg)
c.439G>C (p.Gly147Arg)
c.373G>C (p.Gly125Arg)
c.169G>C (p.Gly57Arg)
c.945+68559G>C (n.945+68559G>C)
6g.43597830G>TCA364280827POLH,POLR1Cc.625G>T (p.Gly209Cys)
c.253G>T (p.Gly85Cys)
c.439G>T (p.Gly147Cys)
c.373G>T (p.Gly125Cys)
c.169G>T (p.Gly57Cys)
c.945+68559G>T (n.945+68559G>T)
6g.43597831G>ACA364280830POLH,POLR1Cc.626G>A (p.Gly209Asp)
c.254G>A (p.Gly85Asp)
c.440G>A (p.Gly147Asp)
c.374G>A (p.Gly125Asp)
c.170G>A (p.Gly57Asp)
c.945+68560G>A (n.945+68560G>A)
6g.43597831G>CCA364280831POLH,POLR1Cc.626G>C (p.Gly209Ala)
c.254G>C (p.Gly85Ala)
c.440G>C (p.Gly147Ala)
c.374G>C (p.Gly125Ala)
c.170G>C (p.Gly57Ala)
c.945+68560G>C (n.945+68560G>C)
6g.43597831G=CA1624581068POLH,POLR1Cc.626G= (p.Gly209=)
c.254G= (p.Gly85=)
c.440G= (p.Gly147=)
c.374G= (p.Gly125=)
c.170G= (p.Gly57=)
c.945+68560G= (n.945+68560G=)
6g.43597831G>TCA3827028POLH,POLR1Cc.626G>T (p.Gly209Val)
c.254G>T (p.Gly85Val)
c.440G>T (p.Gly147Val)
c.374G>T (p.Gly125Val)
c.170G>T (p.Gly57Val)
c.945+68560G>T (n.945+68560G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched