Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.89333535delCA2843304777POLG,POLGARFc.221del (p.Leu74TrpfsTer?)
c.276del (p.Ile92MetfsTer?)
n.419del
15g.89333535_89333565delCA2630256941POLG,POLGARFc.191_221del (p.Ser64TrpfsTer?)
c.246_276del (p.Gly83AspfsTer?)
n.389_419del
 gnomAD v4
15g.89333535A=CA2194572913POLG,POLGARFc.220T= (p.Leu74=)
c.275T= (p.Ile92=)
n.418T=
15g.89333535A>CCA393773478POLG,POLGARFc.220T>G (p.Leu74Val)
c.275T>G (p.Ile92Ser)
n.418T>G
15g.89333535A>GCA492290043POLG,POLGARFc.220T>C (p.Leu74=)
c.275T>C (p.Ile92Thr)
n.418T>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333535A>TCA393773479POLG,POLGARFc.220T>A (p.Leu74Met)
c.275T>A (p.Ile92Asn)
n.418T>A
 gnomAD v4
15g.89333536T>ACA492290044POLG,POLGARFc.219A>T (p.Pro73=)
c.274A>T (p.Ile92Phe)
n.417A>T
 ClinVar
15g.89333536T>CCA492290045POLG,POLGARFc.219A>G (p.Pro73=)
c.274A>G (p.Ile92Val)
n.417A>G
 ClinVar gnomAD v4
15g.89333536T>GCA492290046POLG,POLGARFc.219A>C (p.Pro73=)
c.274A>C (p.Ile92Leu)
n.417A>C
15g.89333537G>ACA274566286POLG,POLGARFc.218C>T (p.Pro73Leu)
c.273C>T (p.Pro91=)
n.416C>T
 ClinVar dbSNP gnomAD v4
15g.89333537G>CCA393773483POLG,POLGARFc.218C>G (p.Pro73Arg)
c.273C>G (p.Pro91=)
n.416C>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333537G=CA2194572918POLG,POLGARFc.218C= (p.Pro73=)
c.273C= (p.Pro91=)
n.416C=
15g.89333537G>TCA393773485POLG,POLGARFc.218C>A (p.Pro73Gln)
c.273C>A (p.Pro91=)
n.416C>A
15g.89333538G>ACA393773491POLG,POLGARFc.217C>T (p.Pro73Ser)
c.272C>T (p.Pro91Leu)
n.415C>T
 gnomAD v4
15g.89333538G>CCA393773493POLG,POLGARFc.217C>G (p.Pro73Ala)
c.272C>G (p.Pro91Arg)
n.415C>G
 dbSNP gnomAD v4
15g.89333538G=CA2194572921POLG,POLGARFc.217C= (p.Pro73=)
c.272C= (p.Pro91=)
n.415C=
15g.89333538G>TCA393773496POLG,POLGARFc.217C>A (p.Pro73Thr)
c.272C>A (p.Pro91His)
n.415C>A
 dbSNP gnomAD v2
15g.89333539G>ACA492290050POLG,POLGARFc.216C>T (p.Asn72=)
c.271C>T (p.Pro91Ser)
n.414C>T
 ClinVar
15g.89333539G>CCA393773501POLG,POLGARFc.216C>G (p.Asn72Lys)
c.271C>G (p.Pro91Ala)
n.414C>G
15g.89333539G>TCA393773517POLG,POLGARFc.216C>A (p.Asn72Lys)
c.271C>A (p.Pro91Thr)
n.414C>A
15g.89333540T>ACA393773523POLG,POLGARFc.215A>T (p.Asn72Ile)
c.270A>T (p.Gln90His)
n.413A>T
15g.89333540T>CCA316778POLG,POLGARFc.215A>G (p.Asn72Ser)
c.270A>G (p.Gln90=)
n.413A>G
 ClinVar dbSNP gnomAD v4
15g.89333540T>GCA393773524POLG,POLGARFc.215A>C (p.Asn72Thr)
c.270A>C (p.Gln90His)
n.413A>C
15g.89333540T=CA2194572926POLG,POLGARFc.215A= (p.Asn72=)
c.270A= (p.Gln90=)
n.413A=
15g.89333541T>ACA7725161POLG,POLGARFc.214A>T (p.Asn72Tyr)
c.269A>T (p.Gln90Leu)
n.412A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333541T>CCA393773542POLG,POLGARFc.214A>G (p.Asn72Asp)
c.269A>G (p.Gln90Arg)
n.412A>G
15g.89333541T>GCA393773551POLG,POLGARFc.214A>C (p.Asn72His)
c.269A>C (p.Gln90Pro)
n.412A>C
15g.89333541T=CA2194572942POLG,POLGARFc.214A= (p.Asn72=)
c.269A= (p.Gln90=)
n.412A=
15g.89333542G>ACA492290052POLG,POLGARFc.213C>T (p.His71=)
c.268C>T (p.Gln90Ter)
n.411C>T
15g.89333542G>CCA393773554POLG,POLGARFc.213C>G (p.His71Gln)
c.268C>G (p.Gln90Glu)
n.411C>G
15g.89333542G>TCA393773561POLG,POLGARFc.213C>A (p.His71Gln)
c.268C>A (p.Gln90Lys)
n.411C>A
15g.89333543T>ACA393773567POLG,POLGARFc.212A>T (p.His71Leu)
c.267A>T (p.Ala89=)
n.410A>T
15g.89333543T>CCA393773574POLG,POLGARFc.212A>G (p.His71Arg)
c.267A>G (p.Ala89=)
n.410A>G
 ClinVar gnomAD v4
15g.89333543T>GCA393773578POLG,POLGARFc.212A>C (p.His71Pro)
c.267A>C (p.Ala89=)
n.410A>C
15g.89333544G>ACA393773586POLG,POLGARFc.211C>T (p.His71Tyr)
c.266C>T (p.Ala89Val)
n.409C>T
 ClinVar dbSNP
15g.89333544G>CCA393773597POLG,POLGARFc.211C>G (p.His71Asp)
c.266C>G (p.Ala89Gly)
n.409C>G
15g.89333544G=CA2194572949POLG,POLGARFc.211C= (p.His71=)
c.266C= (p.Ala89=)
n.409C=
15g.89333544G>TCA393773598POLG,POLGARFc.211C>A (p.His71Asn)
c.266C>A (p.Ala89Glu)
n.409C>A
 gnomAD v4
15g.89333545C>ACA7725162POLG,POLGARFc.210G>T (p.Arg70=)
c.265G>T (p.Ala89Ser)
n.408G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333545C=CA2194572955POLG,POLGARFc.210G= (p.Arg70=)
c.265G= (p.Ala89=)
n.408G=
15g.89333545C>GCA274566326POLG,POLGARFc.210G>C (p.Arg70=)
c.265G>C (p.Ala89Pro)
n.408G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333545C>TCA492290057POLG,POLGARFc.210G>A (p.Arg70=)
c.265G>A (p.Ala89Thr)
n.408G>A
 ClinVar dbSNP gnomAD v4
15g.89333546C>ACA393773625POLG,POLGARFc.209G>T (p.Arg70Leu)
c.264G>T (p.Ala88=)
n.407G>T
 gnomAD v4
15g.89333546C=CA2194572958POLG,POLGARFc.209G= (p.Arg70=)
c.264G= (p.Ala88=)
n.407G=
15g.89333546C>GCA393773617POLG,POLGARFc.209G>C (p.Arg70Pro)
c.264G>C (p.Ala88=)
n.407G>C
15g.89333546C>TCA274566338POLG,POLGARFc.209G>A (p.Arg70Gln)
c.264G>A (p.Ala88=)
n.407G>A
 ClinVar dbSNP gnomAD v4
15g.89333547G>ACA393773631POLG,POLGARFc.208C>T (p.Arg70Trp)
c.263C>T (p.Ala88Val)
n.406C>T
 COSMIC
15g.89333547G>CCA393773634POLG,POLGARFc.208C>G (p.Arg70Gly)
c.263C>G (p.Ala88Gly)
n.406C>G
15g.89333547G>TCA492290059POLG,POLGARFc.208C>A (p.Arg70=)
c.263C>A (p.Ala88Glu)
n.406C>A
15g.89333548C>ACA492290065POLG,POLGARFc.207G>T (p.Leu69=)
c.262G>T (p.Ala88Ser)
n.405G>T
15g.89333548C>GCA492290063POLG,POLGARFc.207G>C (p.Leu69=)
c.262G>C (p.Ala88Pro)
n.405G>C
15g.89333548C>TCA492290061POLG,POLGARFc.207G>A (p.Leu69=)
c.262G>A (p.Ala88Thr)
n.405G>A
15g.89333549A>CCA393773635POLG,POLGARFc.206T>G (p.Leu69Arg)
c.261T>G (p.Ala87=)
n.404T>G
15g.89333549A>GCA393773636POLG,POLGARFc.206T>C (p.Leu69Pro)
c.261T>C (p.Ala87=)
n.404T>C
 dbSNP
15g.89333549A>TCA393773637POLG,POLGARFc.206T>A (p.Leu69Gln)
c.261T>A (p.Ala87=)
n.404T>A
15g.89333550G>ACA492290067POLG,POLGARFc.205C>T (p.Leu69=)
c.260C>T (p.Ala87Val)
n.403C>T
 gnomAD v4
15g.89333550G>CCA393773640POLG,POLGARFc.205C>G (p.Leu69Val)
c.260C>G (p.Ala87Gly)
n.403C>G
15g.89333550G>TCA393773643POLG,POLGARFc.205C>A (p.Leu69Met)
c.260C>A (p.Ala87Asp)
n.403C>A
15g.89333551C>ACA393773644POLG,POLGARFc.204G>T (p.Gln68His)
c.259G>T (p.Ala87Ser)
n.402G>T
15g.89333551C>GCA393773647POLG,POLGARFc.204G>C (p.Gln68His)
c.259G>C (p.Ala87Pro)
n.402G>C
 ClinVar gnomAD v4
15g.89333551C>TCA492290069POLG,POLGARFc.204G>A (p.Gln68=)
c.259G>A (p.Ala87Thr)
n.402G>A
15g.89333552T>ACA393773649POLG,POLGARFc.203A>T (p.Gln68Leu)
c.258A>T (p.Ala86=)
n.401A>T
 ClinVar dbSNP
15g.89333552T>CCA393773654POLG,POLGARFc.203A>G (p.Gln68Arg)
c.258A>G (p.Ala86=)
n.401A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333552T>GCA393773656POLG,POLGARFc.203A>C (p.Gln68Pro)
c.258A>C (p.Ala86=)
n.401A>C
 dbSNP gnomAD v2 gnomAD v4
15g.89333552T=CA2194572965POLG,POLGARFc.203A= (p.Gln68=)
c.258A= (p.Ala86=)
n.401A=
15g.89333553G>ACA10602212POLG,POLGARFc.202C>T (p.Gln68Ter)
c.257C>T (p.Ala86Val)
n.400C>T
 ClinVar dbSNP gnomAD v4
15g.89333553G>CCA393773667POLG,POLGARFc.202C>G (p.Gln68Glu)
c.257C>G (p.Ala86Gly)
n.400C>G
15g.89333553G=CA2194572970POLG,POLGARFc.202C= (p.Gln68=)
c.257C= (p.Ala86=)
n.400C=
15g.89333553G>TCA393773665POLG,POLGARFc.202C>A (p.Gln68Lys)
c.257C>A (p.Ala86Glu)
n.400C>A
 gnomAD v4
15g.89333554C>ACA492290073POLG,POLGARFc.201G>T (p.Gly67=)
c.256G>T (p.Ala86Ser)
n.399G>T
15g.89333554C>GCA492290074POLG,POLGARFc.201G>C (p.Gly67=)
c.256G>C (p.Ala86Pro)
n.399G>C
15g.89333554C>TCA492290075POLG,POLGARFc.201G>A (p.Gly67=)
c.256G>A (p.Ala86Thr)
n.399G>A
 gnomAD v4
15g.89333555C>ACA393773670POLG,POLGARFc.200G>T (p.Gly67Val)
c.255G>T (p.Arg85=)
n.398G>T
15g.89333555C=CA2194572972POLG,POLGARFc.200G= (p.Gly67=)
c.255G= (p.Arg85=)
n.398G=
15g.89333555C>GCA393773680POLG,POLGARFc.200G>C (p.Gly67Ala)
c.255G>C (p.Arg85=)
n.398G>C
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333555C>TCA393773677POLG,POLGARFc.200G>A (p.Gly67Glu)
c.255G>A (p.Arg85=)
n.398G>A
 gnomAD v4
15g.89333556C>ACA393773684POLG,POLGARFc.199G>T (p.Gly67Trp)
c.254G>T (p.Arg85Leu)
n.397G>T
 dbSNP gnomAD v2
15g.89333556C=CA2194572979POLG,POLGARFc.199G= (p.Gly67=)
c.254G= (p.Arg85=)
n.397G=
15g.89333556C>GCA393773686POLG,POLGARFc.199G>C (p.Gly67Arg)
c.254G>C (p.Arg85Pro)
n.397G>C
 ClinVar
15g.89333556C>TCA393773685POLG,POLGARFc.199G>A (p.Gly67Arg)
c.254G>A (p.Arg85Gln)
n.397G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333557G>ACA492290077POLG,POLGARFc.198C>T (p.Gly66=)
c.253C>T (p.Arg85Trp)
n.396C>T
 dbSNP gnomAD v4 COSMIC
15g.89333557G>CCA492290078POLG,POLGARFc.198C>G (p.Gly66=)
c.253C>G (p.Arg85Gly)
n.396C>G
15g.89333557G=CA2194572985POLG,POLGARFc.198C= (p.Gly66=)
c.253C= (p.Arg85=)
n.396C=
15g.89333557G>TCA492290079POLG,POLGARFc.198C>A (p.Gly66=)
c.253C>A (p.Arg85=)
n.396C>A
 gnomAD v4
15g.89333557_89333558delinsGCCA2194572982POLG,POLGARFc.197_198delinsGC (p.Gly66=)
c.252_253delinsGC (p.Gly84=)
n.395_396delinsGC
15g.89333558C>ACA393773691POLG,POLGARFc.197G>T (p.Gly66Val)
c.252G>T (p.Gly84=)
n.395G>T
15g.89333558C>GCA393773705POLG,POLGARFc.197G>C (p.Gly66Ala)
c.252G>C (p.Gly84=)
n.395G>C
15g.89333558C>TCA393773708POLG,POLGARFc.197G>A (p.Gly66Asp)
c.252G>A (p.Gly84=)
n.395G>A
15g.89333560delCA619857515POLG,POLGARFc.197del (p.Gly66AlafsTer?)
c.252del (p.Arg85GlyfsTer?)
n.395del
 dbSNP gnomAD v2 gnomAD v4
15g.89333559C>ACA393773718POLG,POLGARFc.196G>T (p.Gly66Cys)
c.251G>T (p.Gly84Val)
n.394G>T
15g.89333559C>GCA393773721POLG,POLGARFc.196G>C (p.Gly66Arg)
c.251G>C (p.Gly84Ala)
n.394G>C
15g.89333559C>TCA393773723POLG,POLGARFc.196G>A (p.Gly66Ser)
c.251G>A (p.Gly84Glu)
n.394G>A
15g.89333560C>ACA393773730POLG,POLGARFc.195G>T (p.Glu65Asp)
c.250G>T (p.Gly84Trp)
n.393G>T
15g.89333560C>GCA393773734POLG,POLGARFc.195G>C (p.Glu65Asp)
c.250G>C (p.Gly84Arg)
n.393G>C
15g.89333560C>TCA492290084POLG,POLGARFc.195G>A (p.Glu65=)
c.250G>A (p.Gly84Arg)
n.393G>A
15g.89333561T>ACA393773738POLG,POLGARFc.194A>T (p.Glu65Val)
c.249A>T (p.Gly83=)
n.392A>T
15g.89333561T>CCA393773740POLG,POLGARFc.194A>G (p.Glu65Gly)
c.249A>G (p.Gly83=)
n.392A>G
15g.89333561T>GCA393773742POLG,POLGARFc.194A>C (p.Glu65Ala)
c.249A>C (p.Gly83=)
n.392A>C
15g.89333562C>ACA393773751POLG,POLGARFc.193G>T (p.Glu65Ter)
c.248G>T (p.Gly83Val)
n.391G>T
15g.89333562C=CA2194572989POLG,POLGARFc.193G= (p.Glu65=)
c.248G= (p.Gly83=)
n.391G=
15g.89333562C>GCA393773745POLG,POLGARFc.193G>C (p.Glu65Gln)
c.248G>C (p.Gly83Ala)
n.391G>C
15g.89333562C>TCA393773746POLG,POLGARFc.193G>A (p.Glu65Lys)
c.248G>A (p.Gly83Glu)
n.391G>A
 dbSNP
15g.89333562_89333563insACA2805168373POLG,POLGARFc.192_193insT (p.Glu65Ter)
c.247_248insT (p.Gly83ValfsTer?)
n.390_391insT
15g.89333563C>ACA492290089POLG,POLGARFc.192G>T (p.Ser64=)
c.247G>T (p.Gly83Ter)
n.390G>T
 ClinVar
15g.89333563C=CA2194573016POLG,POLGARFc.192G= (p.Ser64=)
c.247G= (p.Gly83=)
n.390G=
15g.89333563C>GCA492290090POLG,POLGARFc.192G>C (p.Ser64=)
c.247G>C (p.Gly83Arg)
n.390G>C
15g.89333563C>TCA7725163POLG,POLGARFc.192G>A (p.Ser64=)
c.247G>A (p.Gly83Arg)
n.390G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333564G>ACA393773758POLG,POLGARFc.191C>T (p.Ser64Leu)
c.246C>T (p.Leu82=)
n.389C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333564G>CCA10602210POLG,POLGARFc.191C>G (p.Ser64Trp)
c.246C>G (p.Leu82=)
n.389C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333564G=CA2194573018POLG,POLGARFc.191C= (p.Ser64=)
c.246C= (p.Leu82=)
n.389C=
15g.89333564G>TCA393773759POLG,POLGARFc.191C>A (p.Ser64Ter)
c.246C>A (p.Leu82=)
n.389C>A
 gnomAD v4
15g.89333566_89333568delCA2573151277POLG,POLGARFc.189_191del (p.Ser64del)
c.244_246del (p.Leu82del)
n.387_389del
 ClinVar dbSNP
15g.89333565A>CCA393773761POLG,POLGARFc.190T>G (p.Ser64Ala)
c.245T>G (p.Leu82Arg)
n.388T>G
15g.89333565A>GCA393773766POLG,POLGARFc.190T>C (p.Ser64Pro)
c.245T>C (p.Leu82Pro)
n.388T>C
15g.89333565A>TCA393773773POLG,POLGARFc.190T>A (p.Ser64Thr)
c.245T>A (p.Leu82His)
n.388T>A
15g.89333566G>ACA492290094POLG,POLGARFc.189C>T (p.Ser63=)
c.244C>T (p.Leu82Phe)
n.387C>T
 ClinVar
15g.89333566G>CCA492290095POLG,POLGARFc.189C>G (p.Ser63=)
c.244C>G (p.Leu82Val)
n.387C>G
15g.89333566G>TCA492290096POLG,POLGARFc.189C>A (p.Ser63=)
c.244C>A (p.Leu82Ile)
n.387C>A
15g.89333567G>ACA274566350POLG,POLGARFc.188C>T (p.Ser63Phe)
c.243C>T (p.Ile81=)
n.386C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333567G>CCA393773780POLG,POLGARFc.188C>G (p.Ser63Cys)
c.243C>G (p.Ile81Met)
n.386C>G
 ClinVar dbSNP
15g.89333567G=CA2194573024POLG,POLGARFc.188C= (p.Ser63=)
c.243C= (p.Ile81=)
n.386C=
15g.89333567G>TCA393773791POLG,POLGARFc.188C>A (p.Ser63Tyr)
c.243C>A (p.Ile81=)
n.386C>A
 dbSNP gnomAD v2
15g.89333568A=CA2194573030POLG,POLGARFc.187T= (p.Ser63=)
c.242T= (p.Ile81=)
n.385T=
15g.89333568A>CCA393773801POLG,POLGARFc.187T>G (p.Ser63Ala)
c.242T>G (p.Ile81Ser)
n.385T>G
15g.89333568A>GCA7725164POLG,POLGARFc.187T>C (p.Ser63Pro)
c.242T>C (p.Ile81Thr)
n.385T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333568A>TCA393773800POLG,POLGARFc.187T>A (p.Ser63Thr)
c.242T>A (p.Ile81Asn)
n.385T>A
15g.89333569T>ACA492290101POLG,POLGARFc.186A>T (p.Leu62=)
c.241A>T (p.Ile81Phe)
n.384A>T
15g.89333569T>CCA7725165POLG,POLGARFc.186A>G (p.Leu62=)
c.241A>G (p.Ile81Val)
n.384A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333569T>GCA492290104POLG,POLGARFc.186A>C (p.Leu62=)
c.241A>C (p.Ile81Leu)
n.384A>C
15g.89333569T=CA2194573048POLG,POLGARFc.186A= (p.Leu62=)
c.241A= (p.Ile81=)
n.384A=
15g.89333570A>CCA393773807POLG,POLGARFc.185T>G (p.Leu62Arg)
c.240T>G (p.Ala80=)
n.383T>G
15g.89333570A>GCA393773811POLG,POLGARFc.185T>C (p.Leu62Pro)
c.240T>C (p.Ala80=)
n.383T>C
15g.89333570A>TCA393773814POLG,POLGARFc.185T>A (p.Leu62Gln)
c.240T>A (p.Ala80=)
n.383T>A
15g.89333571G>ACA7725166POLG,POLGARFc.184C>T (p.Leu62=)
c.239C>T (p.Ala80Val)
n.382C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333571G>CCA393773817POLG,POLGARFc.184C>G (p.Leu62Val)
c.239C>G (p.Ala80Gly)
n.382C>G
15g.89333571G=CA2194573050POLG,POLGARFc.184C= (p.Leu62=)
c.239C= (p.Ala80=)
n.382C=
15g.89333571G>TCA393773818POLG,POLGARFc.184C>A (p.Leu62Ile)
c.239C>A (p.Ala80Asp)
n.382C>A
 gnomAD v4
15g.89333572C>ACA492290107POLG,POLGARFc.183G>T (p.Val61=)
c.238G>T (p.Ala80Ser)
n.381G>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333572C=CA2194573055POLG,POLGARFc.183G= (p.Val61=)
c.238G= (p.Ala80=)
n.381G=
15g.89333572C>GCA492290108POLG,POLGARFc.183G>C (p.Val61=)
c.238G>C (p.Ala80Pro)
n.381G>C
 gnomAD v4
15g.89333572C>TCA492290109POLG,POLGARFc.183G>A (p.Val61=)
c.238G>A (p.Ala80Thr)
n.381G>A
 gnomAD v4
15g.89333573A>CCA393773822POLG,POLGARFc.182T>G (p.Val61Gly)
c.237T>G (p.Ser79Arg)
n.380T>G
15g.89333573A>GCA393773823POLG,POLGARFc.182T>C (p.Val61Ala)
c.237T>C (p.Ser79=)
n.380T>C
15g.89333573A>TCA393773825POLG,POLGARFc.182T>A (p.Val61Glu)
c.237T>A (p.Ser79Arg)
n.380T>A
15g.89333574C>ACA393773828POLG,POLGARFc.181G>T (p.Val61Leu)
c.236G>T (p.Ser79Ile)
n.379G>T
15g.89333574C>GCA393773831POLG,POLGARFc.181G>C (p.Val61Leu)
c.236G>C (p.Ser79Thr)
n.379G>C
15g.89333574C>TCA393773835POLG,POLGARFc.181G>A (p.Val61Met)
c.236G>A (p.Ser79Asn)
n.379G>A
15g.89333575T>ACA393773838POLG,POLGARFc.180A>T (p.Gln60His)
c.235A>T (p.Ser79Cys)
n.378A>T
15g.89333575T>CCA492290117POLG,POLGARFc.180A>G (p.Gln60=)
c.235A>G (p.Ser79Gly)
n.378A>G
 ClinVar dbSNP
15g.89333575T>GCA393773841POLG,POLGARFc.180A>C (p.Gln60His)
c.235A>C (p.Ser79Arg)
n.378A>C
 gnomAD v4
15g.89333575T=CA2194573062POLG,POLGARFc.180A= (p.Gln60=)
c.235A= (p.Ser79=)
n.378A=
15g.89333576T>ACA393773851POLG,POLGARFc.179A>T (p.Gln60Leu)
c.234A>T (p.Ala78=)
n.377A>T
15g.89333576T>CCA393773856POLG,POLGARFc.179A>G (p.Gln60Arg)
c.234A>G (p.Ala78=)
n.377A>G
 gnomAD v4
15g.89333576T>GCA393773858POLG,POLGARFc.179A>C (p.Gln60Pro)
c.234A>C (p.Ala78=)
n.377A>C
 ClinVar
15g.89333578_89333586delCA2630256942POLG,POLGARFc.171_179del (p.Gln58_Gln60del)
c.226_234del (p.Ala76_Ala78del)
n.369_377del
 gnomAD v4
15g.89333577G>ACA393773862POLG,POLGARFc.178C>T (p.Gln60Ter)
c.233C>T (p.Ala78Val)
n.376C>T
 ClinVar dbSNP gnomAD v4
15g.89333577G>CCA393773866POLG,POLGARFc.178C>G (p.Gln60Glu)
c.233C>G (p.Ala78Gly)
n.376C>G
15g.89333577G=CA2194573069POLG,POLGARFc.178C= (p.Gln60=)
c.233C= (p.Ala78=)
n.376C=
15g.89333577G>TCA7725167POLG,POLGARFc.178C>A (p.Gln60Lys)
c.233C>A (p.Ala78Glu)
n.376C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333577dupCA2630256943POLG,POLGARFc.178dup (p.Gln60ProfsTer?)
c.233dup (p.Ser79LysfsTer?)
n.376dup
 gnomAD v4
15g.89333578C>ACA7725169POLG,POLGARFc.177G>T (p.Pro59=)
c.232G>T (p.Ala78Ser)
n.375G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333578C=CA2194573076POLG,POLGARFc.177G= (p.Pro59=)
c.232G= (p.Ala78=)
n.375G=
15g.89333578C>GCA492290119POLG,POLGARFc.177G>C (p.Pro59=)
c.232G>C (p.Ala78Pro)
n.375G>C
 ClinVar dbSNP gnomAD v4
15g.89333578C>TCA492290122POLG,POLGARFc.177G>A (p.Pro59=)
c.232G>A (p.Ala78Thr)
n.375G>A
 gnomAD v4 COSMIC
15g.89333578_89333579insACACA2805168374POLG,POLGARFc.176_177insTGT (p.Pro59_Gln60insVal)
c.231_232insTGT (p.Ala77_Ala78insCys)
n.374_375insTGT
15g.89333579G>ACA16042908POLG,POLGARFc.176C>T (p.Pro59Leu)
c.231C>T (p.Ala77=)
n.374C>T
 ClinVar dbSNP COSMIC
15g.89333579G>CCA393773884POLG,POLGARFc.176C>G (p.Pro59Arg)
c.231C>G (p.Ala77=)
n.374C>G
15g.89333579G=CA2194573088POLG,POLGARFc.176C= (p.Pro59=)
c.231C= (p.Ala77=)
n.374C=
15g.89333579G>TCA393773887POLG,POLGARFc.176C>A (p.Pro59Gln)
c.231C>A (p.Ala77=)
n.374C>A
 gnomAD v4
15g.89333580delCA2630256945POLG,POLGARFc.176del (p.Pro59ArgfsTer?)
c.231del (p.Ala78GlnfsTer?)
n.374del
 gnomAD v4
15g.89333587_89333595dupCA7725168POLG,POLGARFc.168_176dup (p.Pro59_Gln60insGlnGlnPro)
c.223_231dup (p.Ala77_Ala78insSerAlaAla)
n.366_374dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333587_89333595delCA2630256944POLG,POLGARFc.168_176del (p.Gln57_Pro59del)
c.223_231del (p.Ser75_Ala77del)
n.366_374del
 gnomAD v4
15g.89333579_89333580insAGACA2805168375POLG,POLGARFc.175_176insTCT (p.Pro59delinsLeuSer)
c.230_231insTCT (p.Ala77_Ala78insLeu)
n.373_374insTCT
15g.89333580G>ACA393773902POLG,POLGARFc.175C>T (p.Pro59Ser)
c.230C>T (p.Ala77Val)
n.373C>T
15g.89333580G>CCA393773906POLG,POLGARFc.175C>G (p.Pro59Ala)
c.230C>G (p.Ala77Gly)
n.373C>G
15g.89333580G>TCA393773900POLG,POLGARFc.175C>A (p.Pro59Thr)
c.230C>A (p.Ala77Asp)
n.373C>A
 gnomAD v4
15g.89333584_89333595delCA2630256947POLG,POLGARFc.164_175del (p.Gln55_Gln58del)
c.219_230del (p.Ala74_Ala77del)
n.362_373del
 gnomAD v4
15g.89333587_89333604dupCA2630256948POLG,POLGARFc.158_175dup (p.Gln58_Pro59insGlnGlnGlnProGlnGln)
c.213_230dup (p.Ala77_Ala78insThrAlaAlaSerAlaAla)
n.356_373dup
 gnomAD v4
15g.89333587_89333604delCA2630256946POLG,POLGARFc.158_175del (p.Gln53_Gln58del)
c.213_230del (p.Thr72_Ala77del)
n.356_373del
 gnomAD v4
15g.89333587_89333607dupCA972594117POLG,POLGARFc.155_175dup (p.Gln58_Pro59insGlnGlnGlnGlnProGlnGln)
c.210_230dup (p.Ala77_Ala78insAlaThrAlaAlaSerAlaAla)
n.353_373dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333581C>ACA393773911POLG,POLGARFc.174G>T (p.Gln58His)
c.229G>T (p.Ala77Ser)
n.372G>T
15g.89333581C=CA2194573095POLG,POLGARFc.174G= (p.Gln58=)
c.229G= (p.Ala77=)
n.372G=
15g.89333581C>GCA393773914POLG,POLGARFc.174G>C (p.Gln58His)
c.229G>C (p.Ala77Pro)
n.372G>C
 dbSNP gnomAD v2 gnomAD v4
15g.89333581C>TCA492290130POLG,POLGARFc.174G>A (p.Gln58=)
c.229G>A (p.Ala77Thr)
n.372G>A
15g.89333582T>ACA393773922POLG,POLGARFc.173A>T (p.Gln58Leu)
c.228A>T (p.Ala76=)
n.371A>T
15g.89333582T>CCA393773923POLG,POLGARFc.173A>G (p.Gln58Arg)
c.228A>G (p.Ala76=)
n.371A>G
15g.89333582T>GCA393773924POLG,POLGARFc.173A>C (p.Gln58Pro)
c.228A>C (p.Ala76=)
n.371A>C
15g.89333583G>ACA393773931POLG,POLGARFc.172C>T (p.Gln58Ter)
c.227C>T (p.Ala76Val)
n.370C>T
 ClinVar dbSNP gnomAD v4
15g.89333583G>CCA393773926POLG,POLGARFc.172C>G (p.Gln58Glu)
c.227C>G (p.Ala76Gly)
n.370C>G
15g.89333583G=CA2194573097POLG,POLGARFc.172C= (p.Gln58=)
c.227C= (p.Ala76=)
n.370C=
15g.89333583G>TCA393773929POLG,POLGARFc.172C>A (p.Gln58Lys)
c.227C>A (p.Ala76Glu)
n.370C>A
 gnomAD v4
15g.89333584C>ACA393773933POLG,POLGARFc.171G>T (p.Gln57His)
c.226G>T (p.Ala76Ser)
n.369G>T
15g.89333584C>GCA393773936POLG,POLGARFc.171G>C (p.Gln57His)
c.226G>C (p.Ala76Pro)
n.369G>C
15g.89333584C>TCA492290137POLG,POLGARFc.171G>A (p.Gln57=)
c.226G>A (p.Ala76Thr)
n.369G>A
15g.89333584_89333585insACATCA2805168376POLG,POLGARFc.170_171insATGT (p.Gln58CysfsTer?)
c.225_226insATGT (p.Ala76MetfsTer?)
n.368_369insATGT
15g.89333585T>ACA393773939POLG,POLGARFc.170A>T (p.Gln57Leu)
c.225A>T (p.Ser75=)
n.368A>T
15g.89333585T>CCA274566394POLG,POLGARFc.170A>G (p.Gln57Arg)
c.225A>G (p.Ser75=)
n.368A>G
 dbSNP gnomAD v4
15g.89333585T>GCA393773941POLG,POLGARFc.170A>C (p.Gln57Pro)
c.225A>C (p.Ser75=)
n.368A>C
15g.89333585T=CA2194573100POLG,POLGARFc.170A= (p.Gln57=)
c.225A= (p.Ser75=)
n.368A=
15g.89333586G>ACA393773949POLG,POLGARFc.169C>T (p.Gln57Ter)
c.224C>T (p.Ser75Leu)
n.367C>T
 gnomAD v4
15g.89333586G>CCA393773946POLG,POLGARFc.169C>G (p.Gln57Glu)
c.224C>G (p.Ser75Ter)
n.367C>G
15g.89333586G>TCA393773948POLG,POLGARFc.169C>A (p.Gln57Lys)
c.224C>A (p.Ser75Ter)
n.367C>A
 gnomAD v4
15g.89333587_89333589delCA2575828990POLG,POLGARFc.167_169del (p.Pro56del)
c.222_224del (p.Ser75del)
n.365_367del
 gnomAD v4
15g.89333586_89333587insTCA2630256949POLG,POLGARFc.168_169insA (p.Gln57ThrfsTer?)
c.223_224insA (p.Ser75TyrfsTer?)
n.366_367insA
 gnomAD v4
15g.89333587A=CA2194573106POLG,POLGARFc.168T= (p.Pro56=)
c.223T= (p.Ser75=)
n.366T=
15g.89333587A>CCA492290141POLG,POLGARFc.168T>G (p.Pro56=)
c.223T>G (p.Ser75Ala)
n.366T>G
 ClinVar gnomAD v4
15g.89333587A>GCA492290142POLG,POLGARFc.168T>C (p.Pro56=)
c.223T>C (p.Ser75Pro)
n.366T>C
15g.89333587A>TCA492290143POLG,POLGARFc.168T>A (p.Pro56=)
c.223T>A (p.Ser75Thr)
n.366T>A
 gnomAD v4
15g.89333587_89333588delinsTTCA645574969POLG,POLGARFc.167_168delinsAA (p.Pro56Gln)
c.222_223delinsAA (p.Ser75Thr)
n.365_366delinsAA
 COSMIC
15g.89333588G>ACA274566405POLG,POLGARFc.167C>T (p.Pro56Leu)
c.222C>T (p.Ala74=)
n.365C>T
 ClinVar dbSNP gnomAD v4
15g.89333588G>CCA393773955POLG,POLGARFc.167C>G (p.Pro56Arg)
c.222C>G (p.Ala74=)
n.365C>G
 ClinVar dbSNP gnomAD v4
15g.89333588G=CA2194573114POLG,POLGARFc.167C= (p.Pro56=)
c.222C= (p.Ala74=)
n.365C=
15g.89333588G>TCA393773956POLG,POLGARFc.167C>A (p.Pro56His)
c.222C>A (p.Ala74=)
n.365C>A
 dbSNP gnomAD v4
15g.89333588_89333591delinsGGCTCA2194573120POLG,POLGARFc.164_167delinsAGCC (p.Gln55=)
c.219_222delinsAGCC (p.Ala73=)
n.362_365delinsAGCC
15g.89333588_89333596dupCA7725170POLG,POLGARFc.159_167dup (p.Pro56_Gln57insGlnGlnPro)
c.214_222dup (p.Ala74_Ser75insThrAlaAla)
n.357_365dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333588_89333597delinsGGCTGCTGTTCA2194573117POLG,POLGARFc.158_167delinsAACAGCAGCC (p.Gln53=)
c.213_222delinsAACAGCAGCC (p.Ala71=)
n.356_365delinsAACAGCAGCC
15g.89333588_89333600delinsGGCTGCTGTTGCTCA2194573118POLG,POLGARFc.155_167delinsAGCAACAGCAGCC (p.Gln52=)
c.210_222delinsAGCAACAGCAGCC (p.Ala70=)
n.353_365delinsAGCAACAGCAGCC
15g.89333588_89333606delinsGGCTGCTGTTGCTGCTGCTCA2194573116POLG,POLGARFc.149_167delinsAGCAGCAGCAACAGCAGCC (p.Gln50=)
c.204_222delinsAGCAGCAGCAACAGCAGCC (p.Ala68=)
n.347_365delinsAGCAGCAGCAACAGCAGCC
15g.89333588_89333612delinsGGCTGCTGTTGCTGCTGCTGCTGCTCA2194573115POLG,POLGARFc.143_167delinsAGCAGCAGCAGCAGCAACAGCAGCC (p.Gln48=)
c.198_222delinsAGCAGCAGCAGCAGCAACAGCAGCC (p.Ala66=)
n.341_365delinsAGCAGCAGCAGCAGCAACAGCAGCC
15g.89333588_89333589insCTCA2630256953POLG,POLGARFc.166_167insAG (p.Pro56GlnfsTer?)
c.221_222insAG (p.Ser75AlafsTer?)
n.364_365insAG
 gnomAD v4
15g.89333589G>ACA393773973POLG,POLGARFc.166C>T (p.Pro56Ser)
c.221C>T (p.Ala74Val)
n.364C>T
 dbSNP gnomAD v4
15g.89333589G>CCA393773975POLG,POLGARFc.166C>G (p.Pro56Ala)
c.221C>G (p.Ala74Gly)
n.364C>G
15g.89333589G=CA2194573144POLG,POLGARFc.166C= (p.Pro56=)
c.221C= (p.Ala74=)
n.364C=
15g.89333589G>TCA393773981POLG,POLGARFc.166C>A (p.Pro56Thr)
c.221C>A (p.Ala74Asp)
n.364C>A
15g.89333593_89333595dupCA2194573149POLG,POLGARFc.164_166dup (p.Gln55_Pro56insGln)
c.219_221dup (p.Ala74_Ser75insAla)
n.362_364dup
 ClinVar dbSNP
15g.89333590_89333595dupCA2194573150POLG,POLGARFc.161_166dup (p.Gln55_Pro56insGlnGln)
c.216_221dup (p.Ala74_Ser75insAlaAla)
n.359_364dup
 ClinVar dbSNP
15g.89333593_89333595delCA7725175POLG,POLGARFc.164_166del (p.Gln55del)
c.219_221del (p.Ala74del)
n.362_364del
 ClinVar dbSNP ExAC gnomAD v4 COSMIC
15g.89333596_89333604dupCA7725174POLG,POLGARFc.158_166dup (p.Gln55_Pro56insGlnGlnGln)
c.213_221dup (p.Ala74_Ser75insThrAlaAla)
n.356_364dup
 ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
15g.89333596_89333604delCA7725171POLG,POLGARFc.158_166del (p.Gln53_Gln55del)
c.213_221del (p.Thr72_Ala74del)
n.356_364del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596_89333607dupCA7725173POLG,POLGARFc.155_166dup (p.Gln55_Pro56insGlnGlnGlnGln)
c.210_221dup (p.Ala74_Ser75insAlaThrAlaAla)
n.353_364dup
 dbSNP ExAC gnomAD v4
15g.89333596_89333607delCA316625POLG,POLGARFc.155_166del (p.Gln52_Gln55del)
c.210_221del (p.Ala71_Ala74del)
n.353_364del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596_89333610dupCA2697549352POLG,POLGARFc.152_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGln)
c.207_221dup (p.Ala74_Ser75insAlaAlaThrAlaAla)
n.350_364dup
 ClinVar
15g.89333596_89333610delCA2630256952POLG,POLGARFc.152_166del (p.Gln51_Gln55del)
c.207_221del (p.Ala70_Ala74del)
n.350_364del
 gnomAD v4
15g.89333596_89333613dupCA619857516POLG,POLGARFc.149_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGln)
c.204_221dup (p.Ala74_Ser75insAlaAlaAlaThrAlaAla)
n.347_364dup
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333596_89333613delCA716918017POLG,POLGARFc.149_166del (p.Gln50_Gln55del)
c.204_221del (p.Ala69_Ala74del)
n.347_364del
 ClinVar dbSNP gnomAD v4
15g.89333596_89333616dupCA2194573138POLG,POLGARFc.146_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGln)
c.201_221dup (p.Ala74_Ser75insAlaAlaAlaAlaThrAlaAla)
n.344_364dup
 ClinVar dbSNP gnomAD v4
15g.89333596_89333616delCA2630256951POLG,POLGARFc.146_166del (p.Gln49_Gln55del)
c.201_221del (p.Ala68_Ala74del)
n.344_364del
 gnomAD v4
15g.89333596_89333619dupCA7725172POLG,POLGARFc.143_166dup (p.Gln55_Pro56insGlnGlnGlnGlnGlnGlnGlnGln)
c.198_221dup (p.Ala74_Ser75insAlaAlaAlaAlaAlaThrAlaAla)
n.341_364dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596_89333619delCA2194573140POLG,POLGARFc.143_166del (p.Gln48_Gln55del)
c.198_221del (p.Ala67_Ala74del)
n.341_364del
 ClinVar dbSNP
15g.89333596_89333625delCA2630256950POLG,POLGARFc.137_166del (p.Gln46_Gln55del)
c.192_221del (p.Ala65_Ala74del)
n.335_364del
 gnomAD v4
15g.89333590C>ACA393774000POLG,POLGARFc.165G>T (p.Gln55His)
c.220G>T (p.Ala74Ser)
n.363G>T
 gnomAD v4
15g.89333590C=CA2194573164POLG,POLGARFc.165G= (p.Gln55=)
c.220G= (p.Ala74=)
n.363G=
15g.89333590C>GCA393774001POLG,POLGARFc.165G>C (p.Gln55His)
c.220G>C (p.Ala74Pro)
n.363G>C
15g.89333590C>TCA492290159POLG,POLGARFc.165G>A (p.Gln55=)
c.220G>A (p.Ala74Thr)
n.363G>A
 ClinVar dbSNP
15g.89333591T>ACA393774004POLG,POLGARFc.164A>T (p.Gln55Leu)
c.219A>T (p.Ala73=)
n.362A>T
15g.89333591T>CCA393774019POLG,POLGARFc.164A>G (p.Gln55Arg)
c.219A>G (p.Ala73=)
n.362A>G
15g.89333591T>GCA393774022POLG,POLGARFc.164A>C (p.Gln55Pro)
c.219A>C (p.Ala73=)
n.362A>C
 dbSNP gnomAD v3 gnomAD v4
15g.89333591T=CA2194573177POLG,POLGARFc.164A= (p.Gln55=)
c.219A= (p.Ala73=)
n.362A=
15g.89333595_89333596insCTGTTGCTGCA2697549353POLG,POLGARFc.164_165insACAGCAGCA (p.Gln55_Pro56insGlnGlnGln)
c.219_220insACAGCAGCA (p.Ala73_Ala74insThrAlaAla)
n.362_363insACAGCAGCA
15g.89333596_89333601dupCA7725176POLG,POLGARFc.159_164dup (p.Gln55_Pro56insGlnGln)
c.214_219dup (p.Ala73_Ala74insThrAla)
n.357_362dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596_89333601delCA2630256954POLG,POLGARFc.159_164del (p.Gln54_Gln55del)
c.214_219del (p.Thr72_Ala73del)
n.357_362del
 gnomAD v4
15g.89333592G>ACA393774032POLG,POLGARFc.163C>T (p.Gln55Ter)
c.218C>T (p.Ala73Val)
n.361C>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333592G>CCA393774040POLG,POLGARFc.163C>G (p.Gln55Glu)
c.218C>G (p.Ala73Gly)
n.361C>G
15g.89333592G=CA2194573188POLG,POLGARFc.163C= (p.Gln55=)
c.218C= (p.Ala73=)
n.361C=
15g.89333592G>TCA393774043POLG,POLGARFc.163C>A (p.Gln55Lys)
c.218C>A (p.Ala73Glu)
n.361C>A
 gnomAD v4
15g.89333595_89333596insAGGCTGCA716918053POLG,POLGARFc.163_164insCTCAGC (p.Gln54_Gln55insProGln)
c.218_219insCTCAGC (p.Ala73_Ala74insSerAla)
n.361_362insCTCAGC
 dbSNP
15g.89333593C>ACA393774046POLG,POLGARFc.162G>T (p.Gln54His)
c.217G>T (p.Ala73Ser)
n.360G>T
15g.89333593C=CA2194573195POLG,POLGARFc.162G= (p.Gln54=)
c.217G= (p.Ala73=)
n.360G=
15g.89333593C>GCA393774051POLG,POLGARFc.162G>C (p.Gln54His)
c.217G>C (p.Ala73Pro)
n.360G>C
15g.89333593C>TCA316626POLG,POLGARFc.162G>A (p.Gln54=)
c.217G>A (p.Ala73Thr)
n.360G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333593_89333596delinsCTGTCA2194573193POLG,POLGARFc.159_162delinsACAG (p.Gln53=)
c.214_217delinsACAG (p.Thr72=)
n.357_360delinsACAG
15g.89333594T>ACA393774055POLG,POLGARFc.161A>T (p.Gln54Leu)
c.216A>T (p.Thr72=)
n.359A>T
15g.89333594T>CCA393774057POLG,POLGARFc.161A>G (p.Gln54Arg)
c.216A>G (p.Thr72=)
n.359A>G
15g.89333594T>GCA7725178POLG,POLGARFc.161A>C (p.Gln54Pro)
c.216A>C (p.Thr72=)
n.359A>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333594T=CA2194573203POLG,POLGARFc.161A= (p.Gln54=)
c.216A= (p.Thr72=)
n.359A=
15g.89333596_89333598dupCA316620POLG,POLGARFc.159_161dup (p.Gln54_Gln55insGln)
c.214_216dup (p.Thr72_Ala73insThr)
n.357_359dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596_89333598delCA7725177POLG,POLGARFc.159_161del (p.Gln54del)
c.214_216del (p.Thr72del)
n.357_359del
 dbSNP ExAC gnomAD v4
15g.89333595G>ACA7725179POLG,POLGARFc.160C>T (p.Gln54Ter)
c.215C>T (p.Thr72Ile)
n.358C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333595G>CCA393774073POLG,POLGARFc.160C>G (p.Gln54Glu)
c.215C>G (p.Thr72Arg)
n.358C>G
15g.89333595G=CA2194573240POLG,POLGARFc.160C= (p.Gln54=)
c.215C= (p.Thr72=)
n.358C=
15g.89333595G>TCA393774071POLG,POLGARFc.160C>A (p.Gln54Lys)
c.215C>A (p.Thr72Lys)
n.358C>A
 gnomAD v4
15g.89333595_89333596delinsGTCA2194573211POLG,POLGARFc.159_160delinsAC (p.Gln53=)
c.214_215delinsAC (p.Thr72=)
n.357_358delinsAC
15g.89333595_89333596insCCA619857517POLG,POLGARFc.159_160insG (p.Gln54AlafsTer?)
c.214_215insG (p.Thr72SerfsTer?)
n.357_358insG
 dbSNP gnomAD v2 gnomAD v4
15g.89333595_89333596insAGGCCA619857518POLG,POLGARFc.159_160insGCCT (p.Gln54AlafsTer?)
c.214_215insGCCT (p.Thr72SerfsTer?)
n.357_358insGCCT
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333596T>ACA10602197POLG,POLGARFc.159A>T (p.Gln53His)
c.214A>T (p.Thr72Ser)
n.357A>T
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333596T>CCA292850POLG,POLGARFc.159A>G (p.Gln53=)
c.214A>G (p.Thr72Ala)
n.357A>G
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333596T>GCA393774081POLG,POLGARFc.159A>C (p.Gln53His)
c.214A>C (p.Thr72Pro)
n.357A>C
15g.89333596T=CA913187360POLG,POLGARFc.159A= (p.Gln53=)
c.214A= (p.Thr72=)
n.357A=
15g.89333596delinsAGGCTGCTGTTGCCA915946108POLG,POLGARFc.159delinsGCAACAGCAGCCT (p.Gln53_Gln54insGlnGlnGlnPro)
c.214delinsGCAACAGCAGCCT (p.Thr72delinsAlaThrAlaAlaSer)
n.357delinsGCAACAGCAGCCT
 ClinVar dbSNP
15g.89333596_89333597delinsAGCA10602308POLG,POLGARFc.158_159delinsCT (p.Gln53Pro)
c.213_214delinsCT (p.Thr72Ser)
n.356_357delinsCT
 ClinVar dbSNP
15g.89333596_89333597delinsTTCA2194573250POLG,POLGARFc.158_159delinsAA (p.Gln53=)
c.213_214delinsAA (p.Ala71=)
n.356_357delinsAA
15g.89333596_89333599delinsTTGCCA2740090098POLG,POLGARFc.156_159delinsGCAA (p.Gln52=)
c.211_214delinsGCAA (p.Ala71=)
n.354_357delinsGCAA
15g.89333596_89333626delinsTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCCA2194573254POLG,POLGARFc.129_159delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Gln43=)
c.184_214delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Ala62=)
n.327_357delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA
15g.89333596_89333597insGCCA972594323POLG,POLGARFc.158_159insGC (p.Gln54HisfsTer?)
c.213_214insGC (p.Thr72AlafsTer?)
n.356_357insGC
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333596_89333597insGCTGCCA2630256955POLG,POLGARFc.158_159insGCAGC (p.Gln55HisfsTer?)
c.213_214insGCAGC (p.Thr72AlafsTer?)
n.356_357insGCAGC
 gnomAD v4
15g.89333596_89333597insGCTGTTGCCA2630256956POLG,POLGARFc.158_159insGCAACAGC (p.Pro56HisfsTer?)
c.213_214insGCAACAGC (p.Thr72AlafsTer?)
n.356_357insGCAACAGC
 gnomAD v4
15g.89333597T>ACA393774146POLG,POLGARFc.158A>T (p.Gln53Leu)
c.213A>T (p.Ala71=)
n.356A>T
15g.89333597T>CCA393774168POLG,POLGARFc.158A>G (p.Gln53Arg)
c.213A>G (p.Ala71=)
n.356A>G
15g.89333597T>GCA7725180POLG,POLGARFc.158A>C (p.Gln53Pro)
c.213A>C (p.Ala71=)
n.356A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333597T=CA2194573305POLG,POLGARFc.158A= (p.Gln53=)
c.213A= (p.Ala71=)
n.356A=
15g.89333598_89333599insTTGCTGCA2194573306POLG,POLGARFc.158_159insGCAACA (p.Gln53_Gln54insGlnGln)
c.213_214insGCAACA (p.Ala71_Thr72insAlaThr)
n.356_357insGCAACA
 ClinVar dbSNP gnomAD v4
15g.89333598_89333599insTTGCTGCTGCA16620027POLG,POLGARFc.158_159insGCAGCAACA (p.Gln53_Gln54insGlnGlnGln)
c.213_214insGCAGCAACA (p.Ala71_Thr72insAlaAlaThr)
n.356_357insGCAGCAACA
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333601_89333602insTTGCTGCTGCA716918184POLG,POLGARFc.158_159insGCAACAGCA (p.Gln53_Gln54insGlnGlnGln)
c.213_214insGCAACAGCA (p.Ala71_Thr72insAlaThrAla)
n.356_357insGCAACAGCA
 ClinVar dbSNP gnomAD v4
15g.89333601_89333602insTTGCTGCTGCTGCA2597948778POLG,POLGARFc.158_159insGCAGCAACAGCA (p.Gln53_Gln54insGlnGlnGlnGln)
c.213_214insGCAGCAACAGCA (p.Ala71_Thr72insAlaAlaThrAla)
n.356_357insGCAGCAACAGCA
 gnomAD v3 gnomAD v4
15g.89333627_89333629dupCA295634POLG,POLGARFc.156_158dup (p.Gln53_Gln54insGln)
c.211_213dup (p.Ala71_Thr72insAla)
n.354_356dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.89333624_89333629dupCA316621POLG,POLGARFc.153_158dup (p.Gln53_Gln54insGlnGln)
c.208_213dup (p.Ala71_Thr72insAlaAla)
n.351_356dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333621_89333629dupCA316618POLG,POLGARFc.150_158dup (p.Gln53_Gln54insGlnGlnGln)
c.205_213dup (p.Ala71_Thr72insAlaAlaAla)
n.348_356dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333618_89333629dupCA658658323POLG,POLGARFc.147_158dup (p.Gln53_Gln54insGlnGlnGlnGln)
c.202_213dup (p.Ala71_Thr72insAlaAlaAlaAla)
n.345_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333615_89333629dupCA16620028POLG,POLGARFc.144_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGln)
c.199_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAla)
n.342_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333612_89333629dupCA658798420POLG,POLGARFc.141_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGln)
c.196_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAla)
n.339_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333609_89333629dupCA972594306POLG,POLGARFc.138_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGln)
c.193_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAla)
n.336_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333606_89333629dupCA2630256957POLG,POLGARFc.135_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGln)
c.190_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAla)
n.333_356dup
 gnomAD v4
15g.89333603_89333629dupCA716918173POLG,POLGARFc.132_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGlnGln)
c.187_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAlaAla)
n.330_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333600_89333629dupCA972594257POLG,POLGARFc.129_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln)
c.184_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
n.327_356dup
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333627_89333629delCA295632POLG,POLGARFc.156_158del (p.Gln53del)
c.211_213del (p.Ala71del)
n.354_356del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
15g.89333624_89333629delCA295636POLG,POLGARFc.153_158del (p.Gln52_Gln53del)
c.208_213del (p.Ala70_Ala71del)
n.351_356del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333621_89333629delCA316616POLG,POLGARFc.150_158del (p.Gln51_Gln53del)
c.205_213del (p.Ala69_Ala71del)
n.348_356del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333618_89333629delCA316614POLG,POLGARFc.147_158del (p.Gln50_Gln53del)
c.202_213del (p.Ala68_Ala71del)
n.345_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC
15g.89333615_89333629delCA316612POLG,POLGARFc.144_158del (p.Gln49_Gln53del)
c.199_213del (p.Ala67_Ala71del)
n.342_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333612_89333629delCA316610POLG,POLGARFc.141_158del (p.Gln48_Gln53del)
c.196_213del (p.Ala66_Ala71del)
n.339_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333609_89333629delCA10606382POLG,POLGARFc.138_158del (p.Gln47_Gln53del)
c.193_213del (p.Ala65_Ala71del)
n.336_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333606_89333629delCA972594248POLG,POLGARFc.135_158del (p.Gln46_Gln53del)
c.190_213del (p.Ala64_Ala71del)
n.333_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333603_89333629delCA2580612702POLG,POLGARFc.132_158del (p.Gln45_Gln53del)
c.187_213del (p.Ala63_Ala71del)
n.330_356del
 ClinVar dbSNP gnomAD v4
15g.89333600_89333629delCA10602186POLG,POLGARFc.129_158del (p.Gln44_Gln53del)
c.184_213del (p.Ala62_Ala71del)
n.327_356del
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333597_89333598insTGCCA915946109POLG,POLGARFc.157_158insGCA (p.Gln53delinsArgLys)
c.212_213insGCA (p.Ala71_Thr72insGln)
n.355_356insGCA
15g.89333597_89333598insTGCTGCCA915946110POLG,POLGARFc.157_158insGCAGCA (p.Gln53delinsArgSerLys)
c.212_213insGCAGCA (p.Ala71_Thr72insGlnGln)
n.355_356insGCAGCA
15g.89333598G>ACA393774175POLG,POLGARFc.157C>T (p.Gln53Ter)
c.212C>T (p.Ala71Val)
n.355C>T
 ClinVar gnomAD v4
15g.89333598G>CCA393774181POLG,POLGARFc.157C>G (p.Gln53Glu)
c.212C>G (p.Ala71Gly)
n.355C>G
15g.89333598G=CA2194573348POLG,POLGARFc.157C= (p.Gln53=)
c.212C= (p.Ala71=)
n.355C=
15g.89333598G>TCA393774178POLG,POLGARFc.157C>A (p.Gln53Lys)
c.212C>A (p.Ala71Glu)
n.355C>A
 gnomAD v4
15g.89333598_89333599delCA2741450853POLG,POLGARFc.156_157del (p.Gln53ThrfsTer?)
c.211_212del (p.Ala71AsnfsTer?)
n.354_355del
15g.89333599_89333600insCGCCA2843304778POLG,POLGARFc.157_158insGGC (p.Gln52_Gln53insArg)
c.212_213insGGC (p.Ala71_Thr72insAla)
n.355_356insGGC
15g.89333598_89333599insTGCCA645574972POLG,POLGARFc.156_157insGCA (p.Gln52_Gln53insAla)
c.211_212insGCA (p.Ala71delinsGlyThr)
n.354_355insGCA
 COSMIC
15g.89333598_89333599insTGCTGCCA645574973POLG,POLGARFc.156_157insGCAGCA (p.Gln52_Gln53insAlaAla)
c.211_212insGCAGCA (p.Ala71delinsGlySerThr)
n.354_355insGCAGCA
 COSMIC
15g.89333599delCA2630256958POLG,POLGARFc.156del (p.Gln52HisfsTer?)
c.211del (p.Ala71GlnfsTer?)
n.354del
 gnomAD v4
15g.89333599C>ACA393774185POLG,POLGARFc.156G>T (p.Gln52His)
c.211G>T (p.Ala71Ser)
n.354G>T
15g.89333599C=CA2194573360POLG,POLGARFc.156G= (p.Gln52=)
c.211G= (p.Ala71=)
n.354G=
15g.89333599C>GCA7725182POLG,POLGARFc.156G>C (p.Gln52His)
c.211G>C (p.Ala71Pro)
n.354G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333599C>TCA292848POLG,POLGARFc.156G>A (p.Gln52=)
c.211G>A (p.Ala71Thr)
n.354G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333603_89333604insCCTGCTCA619857519POLG,POLGARFc.156_157insGAGCAG (p.Gln52_Gln53insGluGln)
c.211_212insGAGCAG (p.Ala70_Ala71insGlyAla)
n.354_355insGAGCAG
 dbSNP gnomAD v2 gnomAD v4
15g.89333600T>ACA393774211POLG,POLGARFc.155A>T (p.Gln52Leu)
c.210A>T (p.Ala70=)
n.353A>T
15g.89333600T>CCA393774208POLG,POLGARFc.155A>G (p.Gln52Arg)
c.210A>G (p.Ala70=)
n.353A>G
15g.89333600T>GCA393774203POLG,POLGARFc.155A>C (p.Gln52Pro)
c.210A>C (p.Ala70=)
n.353A>C
15g.89333601_89333602insATGCA7725181POLG,POLGARFc.155_156insTCA (p.Gln51_Gln52insHis)
c.210_211insTCA (p.Ala70_Ala71insSer)
n.353_354insTCA
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333601_89333602insTTGCA2194573367POLG,POLGARFc.155_156insACA (p.Gln52_Gln53insGln)
c.210_211insACA (p.Ala70_Ala71insThr)
n.353_354insACA
 dbSNP
15g.89333601G>ACA393774213POLG,POLGARFc.154C>T (p.Gln52Ter)
c.209C>T (p.Ala70Val)
n.352C>T
 gnomAD v4
15g.89333601G>CCA7725183POLG,POLGARFc.154C>G (p.Gln52Glu)
c.209C>G (p.Ala70Gly)
n.352C>G
 dbSNP ExAC gnomAD v2
15g.89333601G=CA2194573378POLG,POLGARFc.154C= (p.Gln52=)
c.209C= (p.Ala70=)
n.352C=
15g.89333601G>TCA316623POLG,POLGARFc.154C>A (p.Gln52Lys)
c.209C>A (p.Ala70Glu)
n.352C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333601_89333602delCA2630256960POLG,POLGARFc.153_154del (p.Gln52AlafsTer?)
c.208_209del (p.Ala70SerfsTer?)
n.351_352del
 gnomAD v4
15g.89333602_89333603insCGCCA2575828991POLG,POLGARFc.154_155insGGC (p.Gln51_Gln52insArg)
c.209_210insGGC (p.Ala70_Ala71insAla)
n.352_353insGGC
15g.89333605_89333606insCGCTGCCA2630256959POLG,POLGARFc.154_155insGGCAGC (p.Gln51_Gln52insArgGln)
c.209_210insGGCAGC (p.Ala70_Ala71insAlaAla)
n.352_353insGGCAGC
 gnomAD v4
15g.89333602C>ACA393774226POLG,POLGARFc.153G>T (p.Gln51His)
c.208G>T (p.Ala70Ser)
n.351G>T
 dbSNP
15g.89333602C=CA2194573393POLG,POLGARFc.153G= (p.Gln51=)
c.208G= (p.Ala70=)
n.351G=
15g.89333602C>GCA393774231POLG,POLGARFc.153G>C (p.Gln51His)
c.208G>C (p.Ala70Pro)
n.351G>C
15g.89333602C>TCA10602193POLG,POLGARFc.153G>A (p.Gln51=)
c.208G>A (p.Ala70Thr)
n.351G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333603_89333604insACTCA2731472193POLG,POLGARFc.153_154insTAG
c.208_209insTAG (p.Ala69_Ala70insVal)
n.351_352insTAG
 dbSNP
15g.89333603T>ACA393774236POLG,POLGARFc.152A>T (p.Gln51Leu)
c.207A>T (p.Ala69=)
n.350A>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333603T>CCA393774237POLG,POLGARFc.152A>G (p.Gln51Arg)
c.207A>G (p.Ala69=)
n.350A>G
 ClinVar dbSNP
15g.89333603T>GCA393774238POLG,POLGARFc.152A>C (p.Gln51Pro)
c.207A>C (p.Ala69=)
n.350A>C
15g.89333603T=CA2194573398POLG,POLGARFc.152A= (p.Gln51=)
c.207A= (p.Ala69=)
n.350A=
15g.89333604_89333605insATGCA2731280404POLG,POLGARFc.152_153insTCA (p.Gln50_Gln51insHis)
c.207_208insTCA (p.Ala69_Ala70insSer)
n.350_351insTCA
 dbSNP
15g.89333604_89333605insTTGCA619857520POLG,POLGARFc.152_153insACA (p.Gln51_Gln52insGln)
c.207_208insACA (p.Ala69_Ala70insThr)
n.350_351insACA
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333603_89333604insCTGCTGCA2499223142POLG,POLGARFc.151_152insCAGCAG (p.Gln51delinsProAlaGlu)
c.206_207insCAGCAG (p.Ala69_Ala70insSerArg)
n.349_350insCAGCAG
 ClinVar dbSNP
15g.89333604delCA2630256962POLG,POLGARFc.151del (p.Gln51SerfsTer?)
c.206del (p.Ala69GlufsTer?)
n.349del
 gnomAD v4
15g.89333604G>ACA393774240POLG,POLGARFc.151C>T (p.Gln51Ter)
c.206C>T (p.Ala69Val)
n.349C>T
 gnomAD v4
15g.89333604G>CCA393774243POLG,POLGARFc.151C>G (p.Gln51Glu)
c.206C>G (p.Ala69Gly)
n.349C>G
 ClinVar
15g.89333604G>TCA393774244POLG,POLGARFc.151C>A (p.Gln51Lys)
c.206C>A (p.Ala69Glu)
n.349C>A
 gnomAD v4
15g.89333606_89333632dupCA2630256961POLG,POLGARFc.125_151dup (p.Gln50_Gln51insArgGlnGlnGlnGlnGlnGlnGlnGln)
c.180_206dup (p.Ala69_Ala70insAlaAlaAlaAlaAlaAlaAlaAlaAla)
n.323_349dup
 gnomAD v4
15g.89333606_89333632delCA912994748POLG,POLGARFc.125_151del (p.Arg42_Gln50del)
c.180_206del (p.Ala61_Ala69del)
n.323_349del
15g.89333605delCA2805168377POLG,POLGARFc.150del (p.Gln50HisfsTer?)
c.205del (p.Ala69GlnfsTer?)
n.348del
15g.89333605C>ACA393774248POLG,POLGARFc.150G>T (p.Gln50His)
c.205G>T (p.Ala69Ser)
n.348G>T
15g.89333605C=CA2194573400POLG,POLGARFc.150G= (p.Gln50=)
c.205G= (p.Ala69=)
n.348G=
15g.89333605C>GCA393774246POLG,POLGARFc.150G>C (p.Gln50His)
c.205G>C (p.Ala69Pro)
n.348G>C
15g.89333605C>TCA7725184POLG,POLGARFc.150G>A (p.Gln50=)
c.205G>A (p.Ala69Thr)
n.348G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333606T>ACA393774267POLG,POLGARFc.149A>T (p.Gln50Leu)
c.204A>T (p.Ala68=)
n.347A>T
15g.89333606T>CCA393774258POLG,POLGARFc.149A>G (p.Gln50Arg)
c.204A>G (p.Ala68=)
n.347A>G
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333606T>GCA393774263POLG,POLGARFc.149A>C (p.Gln50Pro)
c.204A>C (p.Ala68=)
n.347A>C
15g.89333606T=CA2194573407POLG,POLGARFc.149A= (p.Gln50=)
c.204A= (p.Ala68=)
n.347A=
15g.89333607_89333608insTTGCA2194573406POLG,POLGARFc.149_150insACA (p.Gln50_Gln51insGln)
c.204_205insACA (p.Ala68_Ala69insThr)
n.347_348insACA
 dbSNP
15g.89333607G>ACA393774268POLG,POLGARFc.148C>T (p.Gln50Ter)
c.203C>T (p.Ala68Val)
n.346C>T
 gnomAD v4
15g.89333607G>CCA393774269POLG,POLGARFc.148C>G (p.Gln50Glu)
c.203C>G (p.Ala68Gly)
n.346C>G
15g.89333607G=CA2194573413POLG,POLGARFc.148C= (p.Gln50=)
c.203C= (p.Ala68=)
n.346C=
15g.89333607G>TCA7725185POLG,POLGARFc.148C>A (p.Gln50Lys)
c.203C>A (p.Ala68Glu)
n.346C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333607_89333608insAGGCA2194573412POLG,POLGARFc.148_149insCTC (p.Gln49_Gln50insPro)
c.203_204insCTC (p.Ala68_Ala69insSer)
n.346_347insCTC
 dbSNP
15g.89333607_89333608delCA2805168378POLG,POLGARFc.147_148del (p.Gln50AlafsTer?)
c.202_203del (p.Ala68SerfsTer?)
n.345_346del
15g.89333608_89333609insGGCCA2630256963POLG,POLGARFc.148_149insCGC (p.Gln49_Gln50insPro)
c.203_204insCGC (p.Ala68_Ala69insAla)
n.346_347insCGC
 gnomAD v4
15g.89333609_89333632dupCA2630256964POLG,POLGARFc.125_148dup (p.Gln49_Gln50insArgGlnGlnGlnGlnGlnGlnGln)
c.180_203dup (p.Ala68_Ala69insAlaAlaAlaAlaAlaAlaAlaAla)
n.323_346dup
 gnomAD v4
15g.89333609_89333632delCA2575828992POLG,POLGARFc.125_148del (p.Arg42_Gln49del)
c.180_203del (p.Ala61_Ala68del)
n.323_346del
15g.89333608C>ACA393774274POLG,POLGARFc.147G>T (p.Gln49His)
c.202G>T (p.Ala68Ser)
n.345G>T
15g.89333608C=CA2194573417POLG,POLGARFc.147G= (p.Gln49=)
c.202G= (p.Ala68=)
n.345G=
15g.89333608C>GCA393774276POLG,POLGARFc.147G>C (p.Gln49His)
c.202G>C (p.Ala68Pro)
n.345G>C
15g.89333608C>TCA492290259POLG,POLGARFc.147G>A (p.Gln49=)
c.202G>A (p.Ala68Thr)
n.345G>A
 dbSNP gnomAD v4
15g.89333609T>ACA393774280POLG,POLGARFc.146A>T (p.Gln49Leu)
c.201A>T (p.Ala67=)
n.344A>T
15g.89333609T>CCA393774283POLG,POLGARFc.146A>G (p.Gln49Arg)
c.201A>G (p.Ala67=)
n.344A>G
 dbSNP gnomAD v4
15g.89333609T>GCA393774287POLG,POLGARFc.146A>C (p.Gln49Pro)
c.201A>C (p.Ala67=)
n.344A>C
 dbSNP
15g.89333609T=CA2194573424POLG,POLGARFc.146A= (p.Gln49=)
c.201A= (p.Ala67=)
n.344A=
15g.89333609_89333610delCA2597948790POLG,POLGARFc.145_146del (p.Gln49AlafsTer?)
c.200_201del (p.Ala67GlyfsTer?)
n.343_344del
 gnomAD v3 gnomAD v4
15g.89333610_89333611insATGCA2731472207POLG,POLGARFc.146_147insTCA (p.Gln48_Gln49insHis)
c.201_202insTCA (p.Ala67_Ala68insSer)
n.344_345insTCA
 dbSNP
15g.89333610_89333611insTTGCA972594333POLG,POLGARFc.146_147insACA (p.Gln49_Gln50insGln)
c.201_202insACA (p.Ala67_Ala68insThr)
n.344_345insACA
 gnomAD v3 gnomAD v4
15g.89333616_89333617insTTGCTGCTGCA619857521POLG,POLGARFc.146_147insACAGCAGCA (p.Gln49_Gln50insGlnGlnGln)
c.201_202insACAGCAGCA (p.Ala67_Ala68insThrAlaAla)
n.344_345insACAGCAGCA
 dbSNP gnomAD v2
15g.89333609_89333630delinsTGCTGCTGCTGCTGCTGCTGCCCA2194573423POLG,POLGARFc.125_146delinsGGCAGCAGCAGCAGCAGCAGCA (p.Arg42=)
c.180_201delinsGGCAGCAGCAGCAGCAGCAGCA (p.Ala60=)
n.323_344delinsGGCAGCAGCAGCAGCAGCAGCA
15g.89333610delCA2630256965POLG,POLGARFc.145del (p.Gln49SerfsTer?)
c.200del (p.Ala67GlufsTer?)
n.343del
 gnomAD v4
15g.89333610G>ACA393774294POLG,POLGARFc.145C>T (p.Gln49Ter)
c.200C>T (p.Ala67Val)
n.343C>T
 ClinVar gnomAD v4
15g.89333610G>CCA7725187POLG,POLGARFc.145C>G (p.Gln49Glu)
c.200C>G (p.Ala67Gly)
n.343C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333610G=CA2194573429POLG,POLGARFc.145C= (p.Gln49=)
c.200C= (p.Ala67=)
n.343C=
15g.89333610G>TCA393774302POLG,POLGARFc.145C>A (p.Gln49Lys)
c.200C>A (p.Ala67Glu)
n.343C>A
15g.89333612_89333632dupCA2573151278POLG,POLGARFc.125_145dup (p.Gln48_Gln49insArgGlnGlnGlnGlnGlnGln)
c.180_200dup (p.Ala67_Ala68insAlaAlaAlaAlaAlaAlaAla)
n.323_343dup
 ClinVar dbSNP
15g.89333612_89333632delCA7725186POLG,POLGARFc.125_145del (p.Arg42_Gln48del)
c.180_200del (p.Ala61_Ala67del)
n.323_343del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333611C>ACA393774311POLG,POLGARFc.144G>T (p.Gln48His)
c.199G>T (p.Ala67Ser)
n.342G>T
15g.89333611C=CA2194573436POLG,POLGARFc.144G= (p.Gln48=)
c.199G= (p.Ala67=)
n.342G=
15g.89333611C>GCA7725188POLG,POLGARFc.144G>C (p.Gln48His)
c.199G>C (p.Ala67Pro)
n.342G>C
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333611C>TCA492290265POLG,POLGARFc.144G>A (p.Gln48=)
c.199G>A (p.Ala67Thr)
n.342G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333612T>ACA393774320POLG,POLGARFc.143A>T (p.Gln48Leu)
c.198A>T (p.Ala66=)
n.341A>T
15g.89333612T>CCA393774324POLG,POLGARFc.143A>G (p.Gln48Arg)
c.198A>G (p.Ala66=)
n.341A>G
 ClinVar dbSNP gnomAD v4
15g.89333612T>GCA393774332POLG,POLGARFc.143A>C (p.Gln48Pro)
c.198A>C (p.Ala66=)
n.341A>C
15g.89333612T=CA2194573446POLG,POLGARFc.143A= (p.Gln48=)
c.198A= (p.Ala66=)
n.341A=
15g.89333612_89333613delCA2630256966POLG,POLGARFc.142_143del (p.Gln48AlafsTer?)
c.197_198del (p.Ala66GlyfsTer?)
n.340_341del
 gnomAD v4
15g.89333616_89333617insGTGCTGCA2194573451POLG,POLGARFc.143_144insCCAGCA (p.Gln47_Gln48insHisGln)
c.198_199insCCAGCA (p.Ala66_Ala67insProAla)
n.341_342insCCAGCA
 ClinVar dbSNP
15g.89333612_89333627delCA2597948793POLG,POLGARFc.128_143del (p.Gln43ArgfsTer?)
c.183_198del (p.Ala62GlnfsTer?)
n.326_341del
 gnomAD v3 gnomAD v4
15g.89333612_89333630delinsTGCTGCTGCTGCTGCTGCCCA2194573449POLG,POLGARFc.125_143delinsGGCAGCAGCAGCAGCAGCA (p.Arg42=)
c.180_198delinsGGCAGCAGCAGCAGCAGCA (p.Ala60=)
n.323_341delinsGGCAGCAGCAGCAGCAGCA
15g.89333612_89333636delinsTGCTGCTGCTGCTGCTGCCGCCGCCCA2194573447POLG,POLGARFc.119_143delinsGGCGGCGGCAGCAGCAGCAGCAGCA (p.Arg40=)
c.174_198delinsGGCGGCGGCAGCAGCAGCAGCAGCA (p.Ala58=)
n.317_341delinsGGCGGCGGCAGCAGCAGCAGCAGCA
15g.89333613G>ACA393774340POLG,POLGARFc.142C>T (p.Gln48Ter)
c.197C>T (p.Ala66Val)
n.340C>T
15g.89333613G>CCA393774341POLG,POLGARFc.142C>G (p.Gln48Glu)
c.197C>G (p.Ala66Gly)
n.340C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333613G=CA2194573457POLG,POLGARFc.142C= (p.Gln48=)
c.197C= (p.Ala66=)
n.340C=
15g.89333613G>TCA393774345POLG,POLGARFc.142C>A (p.Gln48Lys)
c.197C>A (p.Ala66Glu)
n.340C>A
 gnomAD v4
15g.89333614_89333615insCGCCA619857522POLG,POLGARFc.142_143insGGC (p.Gln47_Gln48insArg)
c.197_198insGGC (p.Ala66_Ala67insAla)
n.340_341insGGC
 dbSNP gnomAD v2 gnomAD v4
15g.89333615_89333632dupCA619857523POLG,POLGARFc.125_142dup (p.Gln47_Gln48insArgGlnGlnGlnGlnGln)
c.180_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAla)
n.323_340dup
 gnomAD v2 gnomAD v3
15g.89333615_89333632delCA619857524POLG,POLGARFc.125_142del (p.Arg42_Gln47del)
c.180_197del (p.Ala61_Ala66del)
n.323_340del
 dbSNP gnomAD v2 gnomAD v4
15g.89333615_89333635dupCA2630256967POLG,POLGARFc.122_142dup (p.Gln47_Gln48insArgArgGlnGlnGlnGlnGln)
c.177_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAla)
n.320_340dup
 gnomAD v4
15g.89333618_89333641dupCA2740096761POLG,POLGARFc.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln)
c.174_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAlaAla)
n.317_340dup
 ClinVar
15g.89333618_89333641delCA2194573456POLG,POLGARFc.119_142del (p.Arg40_Gln47del)
c.174_197del (p.Ala59_Ala66del)
n.317_340del
 dbSNP gnomAD v4
15g.89333614C>ACA393774348POLG,POLGARFc.141G>T (p.Gln47His)
c.196G>T (p.Ala66Ser)
n.339G>T
15g.89333614C=CA2194573463POLG,POLGARFc.141G= (p.Gln47=)
c.196G= (p.Ala66=)
n.339G=
15g.89333614C>GCA393774352POLG,POLGARFc.141G>C (p.Gln47His)
c.196G>C (p.Ala66Pro)
n.339G>C
15g.89333614C>TCA7725189POLG,POLGARFc.141G>A (p.Gln47=)
c.196G>A (p.Ala66Thr)
n.339G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333614_89333616delinsCTGCA2194573462POLG,POLGARFc.139_141delinsCAG (p.Gln47=)
c.194_196delinsCAG (p.Ala65=)
n.337_339delinsCAG
15g.89333615T>ACA393774359POLG,POLGARFc.140A>T (p.Gln47Leu)
c.195A>T (p.Ala65=)
n.338A>T
15g.89333615T>CCA393774360POLG,POLGARFc.140A>G (p.Gln47Arg)
c.195A>G (p.Ala65=)
n.338A>G
 dbSNP
15g.89333615T>GCA393774364POLG,POLGARFc.140A>C (p.Gln47Pro)
c.195A>C (p.Ala65=)
n.338A>C
15g.89333615T=CA2194573479POLG,POLGARFc.140A= (p.Gln47=)
c.195A= (p.Ala65=)
n.338A=
15g.89333615_89333616delCA972594340POLG,POLGARFc.139_140del (p.Gln47AlafsTer?)
c.194_195del (p.Ala65GlyfsTer?)
n.337_338del
 dbSNP gnomAD v3 gnomAD v4
15g.89333616_89333617insTTGCA619857525POLG,POLGARFc.140_141insACA (p.Gln47_Gln48insGln)
c.195_196insACA (p.Ala65_Ala66insThr)
n.338_339insACA
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333615_89333630delinsTGCTGCTGCTGCTGCCCA2194573469POLG,POLGARFc.125_140delinsGGCAGCAGCAGCAGCA (p.Arg42=)
c.180_195delinsGGCAGCAGCAGCAGCA (p.Ala60=)
n.323_338delinsGGCAGCAGCAGCAGCA
15g.89333616G>ACA393774378POLG,POLGARFc.139C>T (p.Gln47Ter)
c.194C>T (p.Ala65Val)
n.337C>T
 dbSNP gnomAD v2
15g.89333616G>CCA393774374POLG,POLGARFc.139C>G (p.Gln47Glu)
c.194C>G (p.Ala65Gly)
n.337C>G
 ClinVar
15g.89333616G=CA2194573488POLG,POLGARFc.139C= (p.Gln47=)
c.194C= (p.Ala65=)
n.337C=
15g.89333616G>TCA393774369POLG,POLGARFc.139C>A (p.Gln47Lys)
c.194C>A (p.Ala65Glu)
n.337C>A
15g.89333616_89333617insTTGCTGCTGCTGCTGCCGCA2630256969POLG,POLGARFc.139_140insGGCAGCAGCAGCAGCAAC (p.Gln46_Gln47insArgGlnGlnGlnGlnGln)
c.194_195insGGCAGCAGCAGCAGCAAC (p.Ala65_Ala66insAlaAlaAlaAlaAlaThr)
n.337_338insGGCAGCAGCAGCAGCAAC
 gnomAD v4
15g.89333617_89333618insGGCCA2731472292POLG,POLGARFc.139_140insCGC (p.Gln46_Gln47insPro)
c.194_195insCGC (p.Ala65_Ala66insAla)
n.337_338insCGC
 dbSNP
15g.89333620_89333621insCGCTGCCA2630256968POLG,POLGARFc.139_140insGGCAGC (p.Gln46_Gln47insArgGln)
c.194_195insGGCAGC (p.Ala65_Ala66insAlaAla)
n.337_338insGGCAGC
 gnomAD v4
15g.89333618_89333632dupCA10602183POLG,POLGARFc.125_139dup (p.Gln46_Gln47insArgGlnGlnGlnGln)
c.180_194dup (p.Ala65_Ala66insAlaAlaAlaAlaAla)
n.323_337dup
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333618_89333632delCA7725190POLG,POLGARFc.125_139del (p.Arg42_Gln46del)
c.180_194del (p.Ala61_Ala65del)
n.323_337del
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333621_89333641dupCA972594348POLG,POLGARFc.119_139dup (p.Gln46_Gln47insArgArgArgGlnGlnGlnGln)
c.174_194dup (p.Ala65_Ala66insAlaAlaAlaAlaAlaAlaAla)
n.317_337dup
 dbSNP gnomAD v3 gnomAD v4
15g.89333621_89333641delCA2575828993POLG,POLGARFc.119_139del (p.Arg40_Gln46del)
c.174_194del (p.Ala59_Ala65del)
n.317_337del
15g.89333617C>ACA393774400POLG,POLGARFc.138G>T (p.Gln46His)
c.193G>T (p.Ala65Ser)
n.336G>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333617C=CA2194573500POLG,POLGARFc.138G= (p.Gln46=)
c.193G= (p.Ala65=)
n.336G=
15g.89333617C>GCA393774393POLG,POLGARFc.138G>C (p.Gln46His)
c.193G>C (p.Ala65Pro)
n.336G>C
15g.89333617C>TCA492290277POLG,POLGARFc.138G>A (p.Gln46=)
c.193G>A (p.Ala65Thr)
n.336G>A
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333618_89333619insACTCA2630256970POLG,POLGARFc.138_139insTAG
c.193_194insTAG (p.Ala64_Ala65insVal)
n.336_337insTAG
 gnomAD v4
15g.89333617_89333619delinsCTGCA2194573502POLG,POLGARFc.136_138delinsCAG (p.Gln46=)
c.191_193delinsCAG (p.Ala64=)
n.334_336delinsCAG
15g.89333617_89333621delinsCTGCTCA2194573501POLG,POLGARFc.134_138delinsAGCAG (p.Gln45=)
c.189_193delinsAGCAG (p.Ala63=)
n.332_336delinsAGCAG
15g.89333617_89333627delinsCTGCTGCTGCTCA2194573503POLG,POLGARFc.128_138delinsAGCAGCAGCAG (p.Gln43=)
c.183_193delinsAGCAGCAGCAG (p.Ala61=)
n.326_336delinsAGCAGCAGCAG
15g.89333618T>ACA393774402POLG,POLGARFc.137A>T (p.Gln46Leu)
c.192A>T (p.Ala64=)
n.335A>T
15g.89333618T>CCA10602190POLG,POLGARFc.137A>G (p.Gln46Arg)
c.192A>G (p.Ala64=)
n.335A>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333618T>GCA393774405POLG,POLGARFc.137A>C (p.Gln46Pro)
c.192A>C (p.Ala64=)
n.335A>C
15g.89333618T=CA2194573511POLG,POLGARFc.137A= (p.Gln46=)
c.192A= (p.Ala64=)
n.335A=
15g.89333618_89333619delCA972594355POLG,POLGARFc.136_137del (p.Gln46AlafsTer?)
c.191_192del (p.Ala64GlyfsTer?)
n.334_335del
 dbSNP gnomAD v3 gnomAD v4
15g.89333619_89333620insATGCA2731472351POLG,POLGARFc.137_138insTCA (p.Gln45_Gln46insHis)
c.192_193insTCA (p.Ala64_Ala65insSer)
n.335_336insTCA
 dbSNP
15g.89333619_89333620insGTGCA2731472350POLG,POLGARFc.137_138insCCA (p.Gln45_Gln46insHis)
c.192_193insCCA (p.Ala64_Ala65insPro)
n.335_336insCCA
 dbSNP
15g.89333618_89333621delinsCCA891843855POLG,POLGARFc.134_137delinsG (p.Gln45_Gln46delinsArg)
c.189_192delinsG (p.Ala64del)
n.332_335delinsG
 ClinVar dbSNP
15g.89333622_89333623insATGCTGCA2731472330POLG,POLGARFc.137_138insTCAGCA (p.Gln45_Gln46insHisGln)
c.192_193insTCAGCA (p.Ala64_Ala65insSerAla)
n.335_336insTCAGCA
 dbSNP
15g.89333618_89333627delCA972594354POLG,POLGARFc.128_137del (p.Gln43ArgfsTer?)
c.183_192del (p.Ala62GlnfsTer?)
n.326_335del
 dbSNP gnomAD v3 gnomAD v4
15g.89333618_89333627delinsCCA2580090393POLG,POLGARFc.128_137delinsG (p.Gln43_Gln46delinsArg)
c.183_192delinsG (p.Ala62_Ala64del)
n.326_335delinsG
 ClinVar
15g.89333618_89333630delinsTGCTGCTGCTGCCCA2194573515POLG,POLGARFc.125_137delinsGGCAGCAGCAGCA (p.Arg42=)
c.180_192delinsGGCAGCAGCAGCA (p.Ala60=)
n.323_335delinsGGCAGCAGCAGCA
15g.89333619G>ACA393774410POLG,POLGARFc.136C>T (p.Gln46Ter)
c.191C>T (p.Ala64Val)
n.334C>T
 ClinVar dbSNP gnomAD v4
15g.89333619G>CCA393774413POLG,POLGARFc.136C>G (p.Gln46Glu)
c.191C>G (p.Ala64Gly)
n.334C>G
15g.89333619G=CA2194573529POLG,POLGARFc.136C= (p.Gln46=)
c.191C= (p.Ala64=)
n.334C=
15g.89333619G>TCA393774419POLG,POLGARFc.136C>A (p.Gln46Lys)
c.191C>A (p.Ala64Glu)
n.334C>A
15g.89333620_89333621insCGCCA619857526POLG,POLGARFc.136_137insGGC (p.Gln45_Gln46insArg)
c.191_192insGGC (p.Ala64_Ala65insAla)
n.334_335insGGC
 dbSNP gnomAD v2 gnomAD v4
15g.89333626_89333627insCGCCGCCGCTGCTGCCA2580612706POLG,POLGARFc.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln)
c.191_192insGGCGGCGGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAla)
n.334_335insGGCGGCGGCAGCAGC
 dbSNP
15g.89333629_89333630insTGCCGCTGCTGCTGCCA2194573525POLG,POLGARFc.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln)
c.191_192insGGCAGCAGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAla)
n.334_335insGGCAGCAGCAGCAGC
 dbSNP
15g.89333629_89333630insTGCTGCCGCCGCCGCTGCCGCTGCTGCTGCCA2194573527POLG,POLGARFc.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln)
c.191_192insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla)
n.334_335insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC
 dbSNP
15g.89333621_89333632dupCA2630256971POLG,POLGARFc.125_136dup (p.Gln45_Gln46insArgGlnGlnGln)
c.180_191dup (p.Ala64_Ala65insAlaAlaAlaAla)
n.323_334dup
 gnomAD v4
15g.89333621_89333632delCA7725191POLG,POLGARFc.125_136del (p.Arg42_Gln45del)
c.180_191del (p.Ala61_Ala64del)
n.323_334del
 dbSNP ExAC gnomAD v4
15g.89333624_89333641dupCA2630256972POLG,POLGARFc.119_136dup (p.Gln45_Gln46insArgArgArgGlnGlnGln)
c.174_191dup (p.Ala64_Ala65insAlaAlaAlaAlaAlaAla)
n.317_334dup
 gnomAD v4
15g.89333624_89333641delCA2731472374POLG,POLGARFc.119_136del (p.Arg40_Gln45del)
c.174_191del (p.Ala59_Ala64del)
n.317_334del
 dbSNP
15g.89333620C>ACA393774428POLG,POLGARFc.135G>T (p.Gln45His)
c.190G>T (p.Ala64Ser)
n.333G>T
15g.89333620C=CA2194573544POLG,POLGARFc.135G= (p.Gln45=)
c.190G= (p.Ala64=)
n.333G=
15g.89333620C>GCA393774431POLG,POLGARFc.135G>C (p.Gln45His)
c.190G>C (p.Ala64Pro)
n.333G>C
 ClinVar
15g.89333620C>TCA492290285POLG,POLGARFc.135G>A (p.Gln45=)
c.190G>A (p.Ala64Thr)
n.333G>A
 dbSNP
15g.89333620_89333621delinsCTCA2194573540POLG,POLGARFc.134_135delinsAG (p.Gln45=)
c.189_190delinsAG (p.Ala63=)
n.332_333delinsAG
15g.89333620_89333622delinsCTGCA2194573538POLG,POLGARFc.133_135delinsCAG (p.Gln45=)
c.188_190delinsCAG (p.Ala63=)
n.331_333delinsCAG
15g.89333620_89333627delinsCTGCTGCTCA2194573539POLG,POLGARFc.128_135delinsAGCAGCAG (p.Gln43=)
c.183_190delinsAGCAGCAG (p.Ala61=)
n.326_333delinsAGCAGCAG
15g.89333621delCA972594361POLG,POLGARFc.134del (p.Gln45ArgfsTer?)
c.189del (p.Ala64GlnfsTer?)
n.332del
 dbSNP gnomAD v3 gnomAD v4
15g.89333621T>ACA393774441POLG,POLGARFc.134A>T (p.Gln45Leu)
c.189A>T (p.Ala63=)
n.332A>T
 dbSNP
15g.89333621T>CCA302810POLG,POLGARFc.134A>G (p.Gln45Arg)
c.189A>G (p.Ala63=)
n.332A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333621T>GCA393774452POLG,POLGARFc.134A>C (p.Gln45Pro)
c.189A>C (p.Ala63=)
n.332A>C
15g.89333621T=CA2194573550POLG,POLGARFc.134A= (p.Gln45=)
c.189A= (p.Ala63=)
n.332A=
15g.89333621_89333622delCA7725192POLG,POLGARFc.133_134del (p.Gln45AlafsTer?)
c.188_189del (p.Ala63GlyfsTer?)
n.331_332del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333622_89333623insTTGCA2731472382POLG,POLGARFc.134_135insACA (p.Gln45_Gln46insGln)
c.189_190insACA (p.Ala63_Ala64insThr)
n.332_333insACA
 dbSNP
15g.89333621_89333627delCA972594369POLG,POLGARFc.128_134del (p.Gln43ArgfsTer?)
c.183_189del (p.Ala62GlnfsTer?)
n.326_332del
 dbSNP gnomAD v3 gnomAD v4
15g.89333621_89333630delinsTGCTGCTGCCCA2194573552POLG,POLGARFc.125_134delinsGGCAGCAGCA (p.Arg42=)
c.180_189delinsGGCAGCAGCA (p.Ala60=)
n.323_332delinsGGCAGCAGCA
15g.89333621_89333636delinsTGCTGCTGCCGCCGCCCA2194573549POLG,POLGARFc.119_134delinsGGCGGCGGCAGCAGCA (p.Arg40=)
c.174_189delinsGGCGGCGGCAGCAGCA (p.Ala58=)
n.317_332delinsGGCGGCGGCAGCAGCA
15g.89333621_89333622insTGCA274566639POLG,POLGARFc.133_134insCA (p.Gln45ProfsTer?)
c.188_189insCA (p.Ala64LysfsTer?)
n.331_332insCA
15g.89333622G>ACA393774484POLG,POLGARFc.133C>T (p.Gln45Ter)
c.188C>T (p.Ala63Val)
n.331C>T
 gnomAD v4
15g.89333622G>CCA393774479POLG,POLGARFc.133C>G (p.Gln45Glu)
c.188C>G (p.Ala63Gly)
n.331C>G
15g.89333622G>TCA393774472POLG,POLGARFc.133C>A (p.Gln45Lys)
c.188C>A (p.Ala63Glu)
n.331C>A
15g.89333623_89333624insAGCCA2731282988POLG,POLGARFc.133_134insTGC (p.Gln44_Gln45insLeu)
c.188_189insTGC (p.Ala63_Ala64insAla)
n.331_332insTGC
 dbSNP
15g.89333623_89333624insCGCCA10602188POLG,POLGARFc.133_134insGGC (p.Gln44_Gln45insArg)
c.188_189insGGC (p.Ala63_Ala64insAla)
n.331_332insGGC
 ClinVar dbSNP
15g.89333623_89333624insCGCCGCCGCTGCCGCCA2580612707POLG,POLGARFc.133_134insGGCAGCGGCGGCGGC (p.Gln44_Gln45insArgGlnArgArgArg)
c.188_189insGGCAGCGGCGGCGGC (p.Ala63_Ala64insAlaAlaAlaAlaAla)
n.331_332insGGCAGCGGCGGCGGC
 dbSNP
15g.89333626_89333627insAGCCGCCGCCGCTGCCGCTGCCA2630256974POLG,POLGARFc.133_134insGGCAGCGGCGGCGGCTGCAGC (p.Gln44_Gln45insArgGlnArgArgArgLeuGln)
c.188_189insGGCAGCGGCGGCGGCTGCAGC (p.Ala63_Ala64insAlaAlaAlaAlaAlaAlaAla)
n.331_332insGGCAGCGGCGGCGGCTGCAGC
 gnomAD v4
15g.89333624_89333632dupCA7725193POLG,POLGARFc.125_133dup (p.Gln44_Gln45insArgGlnGln)
c.180_188dup (p.Ala63_Ala64insAlaAlaAla)
n.323_331dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333624_89333632delCA7725194POLG,POLGARFc.125_133del (p.Arg42_Gln44del)
c.180_188del (p.Ala61_Ala63del)
n.323_331del
 ClinVar dbSNP ExAC gnomAD v4
15g.89333624_89333635dupCA2630256973POLG,POLGARFc.122_133dup (p.Gln44_Gln45insArgArgGlnGln)
c.177_188dup (p.Ala63_Ala64insAlaAlaAlaAla)
n.320_331dup
 gnomAD v4
15g.89333627_89333641dupCA619857528POLG,POLGARFc.119_133dup (p.Gln44_Gln45insArgArgArgGlnGln)
c.174_188dup (p.Ala63_Ala64insAlaAlaAlaAlaAla)
n.317_331dup
 dbSNP gnomAD v2 gnomAD v4
15g.89333627_89333641delCA619857527POLG,POLGARFc.119_133del (p.Arg40_Gln44del)
c.174_188del (p.Ala59_Ala63del)
n.317_331del
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333623delCA2630256975POLG,POLGARFc.132del (p.Gln44HisfsTer?)
c.187del (p.Ala63GlnfsTer?)
n.330del
 gnomAD v4
15g.89333623C>ACA393774490POLG,POLGARFc.132G>T (p.Gln44His)
c.187G>T (p.Ala63Ser)
n.330G>T
 ClinVar dbSNP gnomAD v4
15g.89333623C=CA2194573570POLG,POLGARFc.132G= (p.Gln44=)
c.187G= (p.Ala63=)
n.330G=
15g.89333623C>GCA393774494POLG,POLGARFc.132G>C (p.Gln44His)
c.187G>C (p.Ala63Pro)
n.330G>C
15g.89333623C>TCA492290299POLG,POLGARFc.132G>A (p.Gln44=)
c.187G>A (p.Ala63Thr)
n.330G>A
 ClinVar dbSNP gnomAD v4
15g.89333624_89333625insACTCA2575828994POLG,POLGARFc.132_133insTAG
c.187_188insTAG (p.Ala62_Ala63insVal)
n.330_331insTAG
15g.89333623_89333625delinsCTGCA2194573567POLG,POLGARFc.130_132delinsCAG (p.Gln44=)
c.185_187delinsCAG (p.Ala62=)
n.328_330delinsCAG
15g.89333623_89333627delinsCTGCTCA2194573565POLG,POLGARFc.128_132delinsAGCAG (p.Gln43=)
c.183_187delinsAGCAG (p.Ala61=)
n.326_330delinsAGCAG
15g.89333624T>ACA393774500POLG,POLGARFc.131A>T (p.Gln44Leu)
c.186A>T (p.Ala62=)
n.329A>T
15g.89333624T>CCA241477POLG,POLGARFc.131A>G (p.Gln44Arg)
c.186A>G (p.Ala62=)
n.329A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333624T>GCA393774503POLG,POLGARFc.131A>C (p.Gln44Pro)
c.186A>C (p.Ala62=)
n.329A>C
15g.89333624T=CA2194573580POLG,POLGARFc.131A= (p.Gln44=)
c.186A= (p.Ala62=)
n.329A=
15g.89333624_89333625delCA2194573581POLG,POLGARFc.130_131del (p.Gln44AlafsTer?)
c.185_186del (p.Ala62GlyfsTer?)
n.328_329del
 dbSNP gnomAD v4
15g.89333625_89333626insGTGCA716918317POLG,POLGARFc.131_132insCCA (p.Gln43_Gln44insHis)
c.186_187insCCA (p.Ala62_Ala63insPro)
n.329_330insCCA
 dbSNP gnomAD v3 gnomAD v4
15g.89333624_89333627delCA7725195POLG,POLGARFc.128_131del (p.Gln43ArgfsTer?)
c.183_186del (p.Ala62GlnfsTer?)
n.326_329del
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333624_89333636delinsTGCTGCCGCCGCCCA2194573582POLG,POLGARFc.119_131delinsGGCGGCGGCAGCA (p.Arg40=)
c.174_186delinsGGCGGCGGCAGCA (p.Ala58=)
n.317_329delinsGGCGGCGGCAGCA
15g.89333625G>ACA393774518POLG,POLGARFc.130C>T (p.Gln44Ter)
c.185C>T (p.Ala62Val)
n.328C>T
 gnomAD v4
15g.89333625G>CCA393774514POLG,POLGARFc.130C>G (p.Gln44Glu)
c.185C>G (p.Ala62Gly)
n.328C>G
15g.89333625G>TCA393774509POLG,POLGARFc.130C>A (p.Gln44Lys)
c.185C>A (p.Ala62Glu)
n.328C>A
 gnomAD v4
15g.89333625_89333626delCA2630256976POLG,POLGARFc.129_130del (p.Gln44AlafsTer?)
c.184_185del (p.Ala62SerfsTer?)
n.327_328del
 gnomAD v4
15g.89333626_89333627insCGCCA7725196POLG,POLGARFc.130_131insGGC (p.Gln43_Gln44insArg)
c.185_186insGGC (p.Ala62_Ala63insAla)
n.328_329insGGC
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333627_89333632dupCA7725197POLG,POLGARFc.125_130dup (p.Gln43_Gln44insArgGln)
c.180_185dup (p.Ala62_Ala63insAlaAla)
n.323_328dup
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333627_89333632delCA2575828995POLG,POLGARFc.125_130del (p.Arg42_Gln43del)
c.180_185del (p.Ala61_Ala62del)
n.323_328del
 gnomAD v4
15g.89333627_89333635dupCA7725198POLG,POLGARFc.122_130dup (p.Gln43_Gln44insArgArgGln)
c.177_185dup (p.Ala62_Ala63insAlaAlaAla)
n.320_328dup
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333631_89333642dupCA2630256977POLG,POLGARFc.119_130dup (p.Gln43_Gln44insArgArgArgGln)
c.174_185dup (p.Ala62_Ala63insAlaAlaAlaAla)
n.317_328dup
 gnomAD v4
15g.89333631_89333642delCA716918325POLG,POLGARFc.119_130del (p.Arg40_Gln43del)
c.174_185del (p.Ala59_Ala62del)
n.317_328del
 ClinVar dbSNP
15g.89333626C>ACA393774536POLG,POLGARFc.129G>T (p.Gln43His)
c.184G>T (p.Ala62Ser)
n.327G>T
 gnomAD v4
15g.89333626C=CA2194573595POLG,POLGARFc.129G= (p.Gln43=)
c.184G= (p.Ala62=)
n.327G=
15g.89333626C>GCA393774541POLG,POLGARFc.129G>C (p.Gln43His)
c.184G>C (p.Ala62Pro)
n.327G>C
15g.89333626C>TCA7725199POLG,POLGARFc.129G>A (p.Gln43=)
c.184G>A (p.Ala62Thr)
n.327G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333626_89333627delinsCTCA2194573598POLG,POLGARFc.128_129delinsAG (p.Gln43=)
c.183_184delinsAG (p.Ala61=)
n.326_327delinsAG
15g.89333627_89333628insTCTCA2731472388POLG,POLGARFc.129_130insAAG (p.Gln43_Gln44insLys)
c.184_185insAAG (p.Ala61_Ala62insGlu)
n.327_328insAAG
 dbSNP
15g.89333627delCA2194573609POLG,POLGARFc.128del (p.Gln43ArgfsTer?)
c.183del (p.Ala62GlnfsTer?)
n.326del
 dbSNP gnomAD v4
15g.89333627T>ACA393774547POLG,POLGARFc.128A>T (p.Gln43Leu)
c.183A>T (p.Ala61=)
n.326A>T
 ClinVar dbSNP gnomAD v4
15g.89333627T>CCA288980POLG,POLGARFc.128A>G (p.Gln43Arg)
c.183A>G (p.Ala61=)
n.326A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333627T>GCA393774553POLG,POLGARFc.128A>C (p.Gln43Pro)
c.183A>C (p.Ala61=)
n.326A>C
15g.89333627T=CA2194573604POLG,POLGARFc.128A= (p.Gln43=)
c.183A= (p.Ala61=)
n.326A=
15g.89333628_89333629insGTGCA2731472395POLG,POLGARFc.128_129insCCA (p.Arg42_Gln43insHis)
c.183_184insCCA (p.Ala61_Ala62insPro)
n.326_327insCCA
 dbSNP
15g.89333627_89333630delinsTGCCCA2194573605POLG,POLGARFc.125_128delinsGGCA (p.Arg42=)
c.180_183delinsGGCA (p.Ala60=)
n.323_326delinsGGCA
15g.89333628G>ACA393774580POLG,POLGARFc.127C>T (p.Gln43Ter)
c.182C>T (p.Ala61Val)
n.325C>T
 gnomAD v4
15g.89333628G>CCA393774582POLG,POLGARFc.127C>G (p.Gln43Glu)
c.182C>G (p.Ala61Gly)
n.325C>G
15g.89333628G>TCA393774585POLG,POLGARFc.127C>A (p.Gln43Lys)
c.182C>A (p.Ala61Glu)
n.325C>A
 gnomAD v4
15g.89333629_89333630insTGCCGCCA619857529POLG,POLGARFc.127_128insGGCAGC (p.Arg42_Gln43insArgGln)
c.182_183insGGCAGC (p.Ala61_Ala62insAlaAla)
n.325_326insGGCAGC
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333629_89333630insTGCCGCCGCCA2555214808POLG,POLGARFc.127_128insGGCGGCAGC (p.Arg42_Gln43insArgArgGln)
c.182_183insGGCGGCAGC (p.Ala61_Ala62insAlaAlaAla)
n.325_326insGGCGGCAGC
 ClinVar
15g.89333629_89333630insTGCTGCCGCCA716918336POLG,POLGARFc.127_128insGGCAGCAGC (p.Arg42_Gln43insArgGlnGln)
c.182_183insGGCAGCAGC (p.Ala61_Ala62insAlaAlaAla)
n.325_326insGGCAGCAGC
 dbSNP gnomAD v3 gnomAD v4
15g.89333636_89333638dupCA7725200POLG,POLGARFc.125_127dup (p.Arg42_Gln43insArg)
c.180_182dup (p.Ala61_Ala62insAla)
n.323_325dup
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
15g.89333633_89333638dupCA916083447POLG,POLGARFc.122_127dup (p.Arg42_Gln43insArgArg)
c.177_182dup (p.Ala61_Ala62insAlaAla)
n.320_325dup
 ClinVar dbSNP gnomAD v4
15g.89333630_89333638dupCA2580612708POLG,POLGARFc.119_127dup (p.Arg42_Gln43insArgArgArg)
c.174_182dup (p.Ala61_Ala62insAlaAlaAla)
n.317_325dup
 ClinVar gnomAD v4
15g.89333636_89333638delCA7725201POLG,POLGARFc.125_127del (p.Arg42del)
c.180_182del (p.Ala61del)
n.323_325del
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333633_89333638delCA10602329POLG,POLGARFc.122_127del (p.Arg41_Arg42del)
c.177_182del (p.Ala60_Ala61del)
n.320_325del
 ClinVar
15g.89333630_89333638delCA2630256979POLG,POLGARFc.119_127del (p.Arg40_Arg42del)
c.174_182del (p.Ala59_Ala61del)
n.317_325del
 dbSNP gnomAD v4
15g.89333628_89333642dupCA2630256978POLG,POLGARFc.113_127dup (p.Arg42_Gln43insArgGlnArgArgArg)
c.168_182dup (p.Ala61_Ala62insAlaAlaAlaAlaAla)
n.311_325dup
 gnomAD v4
15g.89333629C>ACA492290311POLG,POLGARFc.126G>T (p.Arg42=)
c.181G>T (p.Ala61Ser)
n.324G>T
15g.89333629C=CA2194573632POLG,POLGARFc.126G= (p.Arg42=)
c.181G= (p.Ala61=)
n.324G=
15g.89333629C>GCA492290314POLG,POLGARFc.126G>C (p.Arg42=)
c.181G>C (p.Ala61Pro)
n.324G>C
 gnomAD v4
15g.89333629C>TCA492290312POLG,POLGARFc.126G>A (p.Arg42=)
c.181G>A (p.Ala61Thr)
n.324G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333629_89333630insTACCA2843304779POLG,POLGARFc.126_127insTAG
c.181_182insTAG (p.Ala60_Ala61insVal)
n.324_325insTAG
15g.89333629_89333630insTGCA492290315POLG,POLGARFc.125_126insCA (p.Gln43SerfsTer?)
c.180_181insCA (p.Ala61GlnfsTer?)
n.323_324insCA
 gnomAD v4
15g.89333629_89333630insTGACA2731472399POLG,POLGARFc.125_126insTCA (p.Arg42_Gln43insGln)
c.180_181insTCA (p.Ala60_Ala61insSer)
n.323_324insTCA
 dbSNP
15g.89333629_89333630insTGCTGTCA2731472400POLG,POLGARFc.125_126insACAGCA (p.Arg42_Gln43insGlnGln)
c.180_181insACAGCA (p.Ala60_Ala61insThrAla)
n.323_324insACAGCA
 dbSNP
15g.89333630C>ACA393774591POLG,POLGARFc.125G>T (p.Arg42Leu)
c.180G>T (p.Ala60=)
n.323G>T
 dbSNP
15g.89333630C=CA2194573640POLG,POLGARFc.125G= (p.Arg42=)
c.180G= (p.Ala60=)
n.323G=
15g.89333630C>GCA393774597POLG,POLGARFc.125G>C (p.Arg42Pro)
c.180G>C (p.Ala60=)
n.323G>C
 gnomAD v4
15g.89333630C>TCA316606POLG,POLGARFc.125G>A (p.Arg42Gln)
c.180G>A (p.Ala60=)
n.323G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333630_89333631insTCA2630256980POLG,POLGARFc.124_125insA (p.Arg42GlnfsTer?)
c.179_180insA (p.Ala61GlyfsTer?)
n.322_323insA
 gnomAD v4
15g.89333630_89333631insAGACA2805168379POLG,POLGARFc.124_125insTCT (p.Arg42delinsLeuTrp)
c.179_180insTCT (p.Ala60_Ala61insLeu)
n.322_323insTCT
15g.89333631G>ACA393774601POLG,POLGARFc.124C>T (p.Arg42Trp)
c.179C>T (p.Ala60Val)
n.322C>T
 dbSNP gnomAD v4
15g.89333631G>CCA7725202POLG,POLGARFc.124C>G (p.Arg42Gly)
c.179C>G (p.Ala60Gly)
n.322C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333631G=CA2194573648POLG,POLGARFc.124C= (p.Arg42=)
c.179C= (p.Ala60=)
n.322C=
15g.89333631G>TCA492290323POLG,POLGARFc.124C>A (p.Arg42=)
c.179C>A (p.Ala60Glu)
n.322C>A
 gnomAD v4
15g.89333632C>ACA492290325POLG,POLGARFc.123G>T (p.Arg41=)
c.178G>T (p.Ala60Ser)
n.321G>T
 ClinVar gnomAD v4
15g.89333632C>GCA492290328POLG,POLGARFc.123G>C (p.Arg41=)
c.178G>C (p.Ala60Pro)
n.321G>C
15g.89333632C>TCA492290326POLG,POLGARFc.123G>A (p.Arg41=)
c.178G>A (p.Ala60Thr)
n.321G>A
 gnomAD v4
15g.89333632_89333633insACA2805168380POLG,POLGARFc.122_123insT (p.Arg42AlafsTer?)
c.177_178insT (p.Ala60CysfsTer?)
n.320_321insT
15g.89333633C>ACA393774602POLG,POLGARFc.122G>T (p.Arg41Leu)
c.177G>T (p.Ala59=)
n.320G>T
 gnomAD v4
15g.89333633C=CA2194573655POLG,POLGARFc.122G= (p.Arg41=)
c.177G= (p.Ala59=)
n.320G=
15g.89333633C>GCA393774605POLG,POLGARFc.122G>C (p.Arg41Pro)
c.177G>C (p.Ala59=)
n.320G>C
15g.89333633C>TCA7725203POLG,POLGARFc.122G>A (p.Arg41Gln)
c.177G>A (p.Ala59=)
n.320G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333633_89333634insAGAACA2805168381POLG,POLGARFc.121_122insTTCT (p.Arg41LeufsTer?)
c.176_177insTTCT (p.Ala60SerfsTer?)
n.319_320insTTCT
15g.89333634G>ACA393774614POLG,POLGARFc.121C>T (p.Arg41Trp)
c.176C>T (p.Ala59Val)
n.319C>T
 gnomAD v4 COSMIC
15g.89333634G>CCA393774630POLG,POLGARFc.121C>G (p.Arg41Gly)
c.176C>G (p.Ala59Gly)
n.319C>G
15g.89333634G>TCA492290332POLG,POLGARFc.121C>A (p.Arg41=)
c.176C>A (p.Ala59Glu)
n.319C>A
 gnomAD v4
15g.89333635_89333636insTGCCA2843304780POLG,POLGARFc.121_122insAGC (p.Arg40_Arg41insGln)
c.176_177insAGC (p.Ala59_Ala60insAla)
n.319_320insAGC
15g.89333635C>ACA492290333POLG,POLGARFc.120G>T (p.Arg40=)
c.175G>T (p.Ala59Ser)
n.318G>T
15g.89333635C>GCA492290334POLG,POLGARFc.120G>C (p.Arg40=)
c.175G>C (p.Ala59Pro)
n.318G>C
 ClinVar
15g.89333635C>TCA492290336POLG,POLGARFc.120G>A (p.Arg40=)
c.175G>A (p.Ala59Thr)
n.318G>A

Number of alleles fetched