Chr Mutation (hg38) CAid Gene Transcript Linkouts
15g.89333099_89333204delCA2580090382POLG,POLGARFc.552_657del (p.Val185GlyfsTer?)
c.607_712del (p.Arg203TrpfsTer?)
c.153_258del (p.Val52GlyfsTer?)
c.209_314del
n.750_855del
c.552_657del (p.Val185GlyfsTer9)
 ClinVar
15g.89333119_89333196delCA2630256922POLG,POLGARFc.567_644del (p.Pro190_Ile215del)
c.622_699del (p.Pro208_His233del)
c.168_245del (p.Pro57_Ile82del)
c.224_301del
n.765_842del
 gnomAD v4
15g.89333184C>ACA393770703POLG,POLGARFc.571G>T (p.Glu191Ter)
c.626G>T (p.Arg209Leu)
c.172G>T (p.Glu58Ter)
c.228G>T
n.769G>T
 gnomAD v4
15g.89333184C=CA2194571579POLG,POLGARFc.571G= (p.Glu191=)
c.626G= (p.Arg209=)
c.172G= (p.Glu58=)
c.228G=
n.769G=
15g.89333184C>GCA393770706POLG,POLGARFc.571G>C (p.Glu191Gln)
c.626G>C (p.Arg209Pro)
c.172G>C (p.Glu58Gln)
c.228G>C
n.769G>C
 gnomAD v4
15g.89333184C>TCA393770714POLG,POLGARFc.571G>A (p.Glu191Lys)
c.626G>A (p.Arg209Gln)
c.172G>A (p.Glu58Lys)
c.228G>A
n.769G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333185G>ACA492289927POLG,POLGARFc.570C>T (p.Pro190=)
c.625C>T (p.Arg209Ter)
c.171C>T (p.Pro57=)
c.227C>T
n.768C>T
 gnomAD v4 COSMIC
15g.89333185G>CCA492289928POLG,POLGARFc.570C>G (p.Pro190=)
c.625C>G (p.Arg209Gly)
c.171C>G (p.Pro57=)
c.227C>G
n.768C>G
15g.89333185G=CA2194571585POLG,POLGARFc.570C= (p.Pro190=)
c.625C= (p.Arg209=)
c.171C= (p.Pro57=)
c.227C=
n.768C=
15g.89333185G>TCA7725093POLG,POLGARFc.570C>A (p.Pro190=)
c.625C>A (p.Arg209=)
c.171C>A (p.Pro57=)
c.227C>A
n.768C>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333186G>ACA393770720POLG,POLGARFc.569C>T (p.Pro190Leu)
c.624C>T (p.Pro208=)
c.170C>T (p.Pro57Leu)
c.226C>T
n.767C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333186G>CCA393770726POLG,POLGARFc.569C>G (p.Pro190Arg)
c.624C>G (p.Pro208=)
c.170C>G (p.Pro57Arg)
c.226C>G
n.767C>G
 gnomAD v4
15g.89333186G=CA2194571597POLG,POLGARFc.569C= (p.Pro190=)
c.624C= (p.Pro208=)
c.170C= (p.Pro57=)
c.226C=
n.767C=
15g.89333186G>TCA393770722POLG,POLGARFc.569C>A (p.Pro190His)
c.624C>A (p.Pro208=)
c.170C>A (p.Pro57His)
c.226C>A
n.767C>A
 gnomAD v4
15g.89333187G>ACA393770731POLG,POLGARFc.568C>T (p.Pro190Ser)
c.623C>T (p.Pro208Leu)
c.169C>T (p.Pro57Ser)
c.225C>T
n.766C>T
 ClinVar dbSNP gnomAD v4
15g.89333187G>CCA393770735POLG,POLGARFc.568C>G (p.Pro190Ala)
c.623C>G (p.Pro208Arg)
c.169C>G (p.Pro57Ala)
c.225C>G
n.766C>G
 ClinVar gnomAD v4
15g.89333187G=CA2194571601POLG,POLGARFc.568C= (p.Pro190=)
c.623C= (p.Pro208=)
c.169C= (p.Pro57=)
c.225C=
n.766C=
15g.89333187G>TCA393770741POLG,POLGARFc.568C>A (p.Pro190Thr)
c.623C>A (p.Pro208His)
c.169C>A (p.Pro57Thr)
c.225C>A
n.766C>A
 gnomAD v4
15g.89333188G>ACA7725094POLG,POLGARFc.567C>T (p.Ile189=)
c.622C>T (p.Pro208Ser)
c.168C>T (p.Ile56=)
c.224C>T
n.765C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333188G>CCA393770765POLG,POLGARFc.567C>G (p.Ile189Met)
c.622C>G (p.Pro208Ala)
c.168C>G (p.Ile56Met)
c.224C>G
n.765C>G
15g.89333188G=CA2194571604POLG,POLGARFc.567C= (p.Ile189=)
c.622C= (p.Pro208=)
c.168C= (p.Ile56=)
c.224C=
n.765C=
15g.89333188G>TCA492289933POLG,POLGARFc.567C>A (p.Ile189=)
c.622C>A (p.Pro208Thr)
c.168C>A (p.Ile56=)
c.224C>A
n.765C>A
 gnomAD v4
15g.89333189A>CCA393770769POLG,POLGARFc.566T>G (p.Ile189Ser)
c.621T>G (p.His207Gln)
c.167T>G (p.Ile56Ser)
c.223T>G
n.764T>G
15g.89333189A>GCA393770773POLG,POLGARFc.566T>C (p.Ile189Thr)
c.621T>C (p.His207=)
c.167T>C (p.Ile56Thr)
c.223T>C
n.764T>C
 gnomAD v4
15g.89333189A>TCA393770774POLG,POLGARFc.566T>A (p.Ile189Asn)
c.621T>A (p.His207Gln)
c.167T>A (p.Ile56Asn)
c.223T>A
n.764T>A
15g.89333190T>ACA393770775POLG,POLGARFc.565A>T (p.Ile189Phe)
c.620A>T (p.His207Leu)
c.166A>T (p.Ile56Phe)
c.222A>T
n.763A>T
 dbSNP
15g.89333190T>CCA316885POLG,POLGARFc.565A>G (p.Ile189Val)
c.620A>G (p.His207Arg)
c.166A>G (p.Ile56Val)
c.222A>G
n.763A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333190T>GCA393770778POLG,POLGARFc.565A>C (p.Ile189Leu)
c.620A>C (p.His207Pro)
c.166A>C (p.Ile56Leu)
c.222A>C
n.763A>C
15g.89333190T=CA2194571609POLG,POLGARFc.565A= (p.Ile189=)
c.620A= (p.His207=)
c.166A= (p.Ile56=)
c.222A=
n.763A=
15g.89333191G>ACA492289937POLG,POLGARFc.564C>T (p.Ala188=)
c.619C>T (p.His207Tyr)
c.165C>T (p.Ala55=)
c.221C>T
n.762C>T
15g.89333191G>CCA492289938POLG,POLGARFc.564C>G (p.Ala188=)
c.619C>G (p.His207Asp)
c.165C>G (p.Ala55=)
c.221C>G
n.762C>G
15g.89333191G>TCA492289939POLG,POLGARFc.564C>A (p.Ala188=)
c.619C>A (p.His207Asn)
c.165C>A (p.Ala55=)
c.221C>A
n.762C>A
 gnomAD v4
15g.89333192G>ACA274565854POLG,POLGARFc.563C>T (p.Ala188Val)
c.618C>T (p.Gly206=)
c.164C>T (p.Ala55Val)
c.220C>T
n.761C>T
 dbSNP gnomAD v3 gnomAD v4
15g.89333192G>CCA393770797POLG,POLGARFc.563C>G (p.Ala188Gly)
c.618C>G (p.Gly206=)
c.164C>G (p.Ala55Gly)
c.220C>G
n.761C>G
 ClinVar
15g.89333192G=CA2194571614POLG,POLGARFc.563C= (p.Ala188=)
c.618C= (p.Gly206=)
c.164C= (p.Ala55=)
c.220C=
n.761C=
15g.89333192G>TCA393770785POLG,POLGARFc.563C>A (p.Ala188Asp)
c.618C>A (p.Gly206=)
c.164C>A (p.Ala55Asp)
c.220C>A
n.761C>A
 gnomAD v4
15g.89333193C>ACA393770801POLG,POLGARFc.562G>T (p.Ala188Ser)
c.617G>T (p.Gly206Val)
c.163G>T (p.Ala55Ser)
c.219G>T
n.760G>T
 gnomAD v4
15g.89333193C=CA2194571624POLG,POLGARFc.562G= (p.Ala188=)
c.617G= (p.Gly206=)
c.163G= (p.Ala55=)
c.219G=
n.760G=
15g.89333193C>GCA393770804POLG,POLGARFc.562G>C (p.Ala188Pro)
c.617G>C (p.Gly206Ala)
c.163G>C (p.Ala55Pro)
c.219G>C
n.760G>C
15g.89333193C>TCA393770806POLG,POLGARFc.562G>A (p.Ala188Thr)
c.617G>A (p.Gly206Asp)
c.163G>A (p.Ala55Thr)
c.219G>A
n.760G>A
 ClinVar dbSNP gnomAD v4
15g.89333194C>ACA492289941POLG,POLGARFc.561G>T (p.Val187=)
c.616G>T (p.Gly206Cys)
c.162G>T (p.Val54=)
c.218G>T
n.759G>T
15g.89333194C>GCA492289942POLG,POLGARFc.561G>C (p.Val187=)
c.616G>C (p.Gly206Arg)
c.162G>C (p.Val54=)
c.218G>C
n.759G>C
15g.89333194C>TCA492289943POLG,POLGARFc.561G>A (p.Val187=)
c.616G>A (p.Gly206Ser)
c.162G>A (p.Val54=)
c.218G>A
n.759G>A
 gnomAD v4
15g.89333195A>CCA393770813POLG,POLGARFc.560T>G (p.Val187Gly)
c.615T>G (p.Arg205=)
c.161T>G (p.Val54Gly)
c.217T>G
n.758T>G
15g.89333195A>GCA393770818POLG,POLGARFc.560T>C (p.Val187Ala)
c.615T>C (p.Arg205=)
c.161T>C (p.Val54Ala)
c.217T>C
n.758T>C
15g.89333195A>TCA393770822POLG,POLGARFc.560T>A (p.Val187Glu)
c.615T>A (p.Arg205=)
c.161T>A (p.Val54Glu)
c.217T>A
n.758T>A
15g.89333196C>ACA393770825POLG,POLGARFc.559G>T (p.Val187Leu)
c.614G>T (p.Arg205Leu)
c.160G>T (p.Val54Leu)
c.216G>T
n.757G>T
 gnomAD v4
15g.89333196C=CA2194571631POLG,POLGARFc.559G= (p.Val187=)
c.614G= (p.Arg205=)
c.160G= (p.Val54=)
c.216G=
n.757G=
15g.89333196C>GCA393770828POLG,POLGARFc.559G>C (p.Val187Leu)
c.614G>C (p.Arg205Pro)
c.160G>C (p.Val54Leu)
c.216G>C
n.757G>C
 ClinVar dbSNP gnomAD v4
15g.89333196C>TCA393770833POLG,POLGARFc.559G>A (p.Val187Met)
c.614G>A (p.Arg205His)
c.160G>A (p.Val54Met)
c.216G>A
n.757G>A
 gnomAD v4
15g.89333197G>ACA492289948POLG,POLGARFc.558C>T (p.Pro186=)
c.613C>T (p.Arg205Cys)
c.159C>T (p.Pro53=)
c.215C>T
n.756C>T
 gnomAD v4
15g.89333197G>CCA492289950POLG,POLGARFc.558C>G (p.Pro186=)
c.613C>G (p.Arg205Gly)
c.159C>G (p.Pro53=)
c.215C>G
n.756C>G
15g.89333197G>TCA492289949POLG,POLGARFc.558C>A (p.Pro186=)
c.613C>A (p.Arg205Ser)
c.159C>A (p.Pro53=)
c.215C>A
n.756C>A
 gnomAD v4
15g.89333198G>ACA393770837POLG,POLGARFc.557C>T (p.Pro186Leu)
c.612C>T (p.Thr204=)
c.158C>T (p.Pro53Leu)
c.214C>T
n.755C>T
 gnomAD v4
15g.89333198G>CCA393770839POLG,POLGARFc.557C>G (p.Pro186Arg)
c.612C>G (p.Thr204=)
c.158C>G (p.Pro53Arg)
c.214C>G
n.755C>G
15g.89333198G>TCA393770842POLG,POLGARFc.557C>A (p.Pro186His)
c.612C>A (p.Thr204=)
c.158C>A (p.Pro53His)
c.214C>A
n.755C>A
 gnomAD v4
15g.89333199G>ACA393770853POLG,POLGARFc.556C>T (p.Pro186Ser)
c.611C>T (p.Thr204Ile)
c.157C>T (p.Pro53Ser)
c.213C>T
n.754C>T
 gnomAD v4
15g.89333199G>CCA393770851POLG,POLGARFc.556C>G (p.Pro186Ala)
c.611C>G (p.Thr204Ser)
c.157C>G (p.Pro53Ala)
c.213C>G
n.754C>G
15g.89333199G>TCA393770846POLG,POLGARFc.556C>A (p.Pro186Thr)
c.611C>A (p.Thr204Asn)
c.157C>A (p.Pro53Thr)
c.213C>A
n.754C>A
15g.89333200T>ACA492289954POLG,POLGARFc.555A>T (p.Val185=)
c.610A>T (p.Thr204Ser)
c.156A>T (p.Val52=)
c.212A>T
n.753A>T
15g.89333200T>CCA492289955POLG,POLGARFc.555A>G (p.Val185=)
c.610A>G (p.Thr204Ala)
c.156A>G (p.Val52=)
c.212A>G
n.753A>G
 gnomAD v4
15g.89333200T>GCA492289957POLG,POLGARFc.555A>C (p.Val185=)
c.610A>C (p.Thr204Pro)
c.156A>C (p.Val52=)
c.212A>C
n.753A>C
15g.89333201A>CCA393770858POLG,POLGARFc.554T>G (p.Val185Gly)
c.609T>G (p.Arg203=)
c.155T>G (p.Val52Gly)
c.211T>G
n.752T>G
15g.89333201A>GCA393770863POLG,POLGARFc.554T>C (p.Val185Ala)
c.609T>C (p.Arg203=)
c.155T>C (p.Val52Ala)
c.211T>C
n.752T>C
 gnomAD v4
15g.89333201A>TCA393770868POLG,POLGARFc.554T>A (p.Val185Glu)
c.609T>A (p.Arg203=)
c.155T>A (p.Val52Glu)
c.211T>A
n.752T>A
15g.89333202C>ACA274565858POLG,POLGARFc.553G>T (p.Val185Leu)
c.608G>T (p.Arg203Leu)
c.154G>T (p.Val52Leu)
c.210G>T
n.751G>T
 dbSNP
15g.89333202C=CA2194571637POLG,POLGARFc.553G= (p.Val185=)
c.608G= (p.Arg203=)
c.154G= (p.Val52=)
c.210G=
n.751G=
15g.89333202C>GCA393770873POLG,POLGARFc.553G>C (p.Val185Leu)
c.608G>C (p.Arg203Pro)
c.154G>C (p.Val52Leu)
c.210G>C
n.751G>C
15g.89333202C>TCA393770875POLG,POLGARFc.553G>A (p.Val185Ile)
c.608G>A (p.Arg203His)
c.154G>A (p.Val52Ile)
c.210G>A
n.751G>A
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333203G>ACA492289960POLG,POLGARFc.552C>T (p.Ala184=)
c.607C>T (p.Arg203Cys)
c.153C>T (p.Ala51=)
c.209C>T
n.750C>T
 ClinVar gnomAD v4
15g.89333203G>CCA492289961POLG,POLGARFc.552C>G (p.Ala184=)
c.607C>G (p.Arg203Gly)
c.153C>G (p.Ala51=)
c.209C>G
n.750C>G
 gnomAD v4
15g.89333203G>TCA492289962POLG,POLGARFc.552C>A (p.Ala184=)
c.607C>A (p.Arg203Ser)
c.153C>A (p.Ala51=)
c.209C>A
n.750C>A
 gnomAD v4
15g.89333204G>ACA393770885POLG,POLGARFc.551C>T (p.Ala184Val)
c.606C>T (p.Gly202=)
c.152C>T (p.Ala51Val)
c.208C>T
n.749C>T
 ClinVar dbSNP gnomAD v4
15g.89333204G>CCA393770879POLG,POLGARFc.551C>G (p.Ala184Gly)
c.606C>G (p.Gly202=)
c.152C>G (p.Ala51Gly)
c.208C>G
n.749C>G
 gnomAD v4
15g.89333204G=CA2194571647POLG,POLGARFc.551C= (p.Ala184=)
c.606C= (p.Gly202=)
c.152C= (p.Ala51=)
c.208C=
n.749C=
15g.89333204G>TCA393770882POLG,POLGARFc.551C>A (p.Ala184Asp)
c.606C>A (p.Gly202=)
c.152C>A (p.Ala51Asp)
c.208C>A
n.749C>A
15g.89333205C>ACA393770890POLG,POLGARFc.550G>T (p.Ala184Ser)
c.605G>T (p.Gly202Val)
c.151G>T (p.Ala51Ser)
c.207G>T
n.748G>T
 gnomAD v4
15g.89333205C>GCA393770892POLG,POLGARFc.550G>C (p.Ala184Pro)
c.605G>C (p.Gly202Ala)
c.151G>C (p.Ala51Pro)
c.207G>C
n.748G>C
15g.89333205C>TCA393770894POLG,POLGARFc.550G>A (p.Ala184Thr)
c.605G>A (p.Gly202Asp)
c.151G>A (p.Ala51Thr)
c.207G>A
n.748G>A
 gnomAD v4
15g.89333210_89333239dupCA2630256926POLG,POLGARFc.521_550dup (p.Glu183_Ala184insGlyTrpThrArgTyrGlyProGluGlyGlu)
c.576_605dup (p.Gly202_Arg203insLeuAspProValArgProArgGlyGlyGly)
c.122_151dup (p.Glu50_Ala51insGlyTrpThrArgTyrGlyProGluGlyGlu)
c.178_207dup
n.719_748dup
 gnomAD v4
15g.89333206C>ACA393770898POLG,POLGARFc.549G>T (p.Glu183Asp)
c.604G>T (p.Gly202Cys)
c.150G>T (p.Glu50Asp)
c.206G>T
n.747G>T
 gnomAD v4
15g.89333206C=CA2194571654POLG,POLGARFc.549G= (p.Glu183=)
c.604G= (p.Gly202=)
c.150G= (p.Glu50=)
c.206G=
n.747G=
15g.89333206C>GCA393770900POLG,POLGARFc.549G>C (p.Glu183Asp)
c.604G>C (p.Gly202Arg)
c.150G>C (p.Glu50Asp)
c.206G>C
n.747G>C
 ClinVar dbSNP gnomAD v4
15g.89333206C>TCA492289967POLG,POLGARFc.549G>A (p.Glu183=)
c.604G>A (p.Gly202Ser)
c.150G>A (p.Glu50=)
c.206G>A
n.747G>A
 gnomAD v4
15g.89333207T>ACA393770904POLG,POLGARFc.548A>T (p.Glu183Val)
c.603A>T (p.Gly201=)
c.149A>T (p.Glu50Val)
c.205A>T
n.746A>T
 gnomAD v4
15g.89333207T>CCA7725095POLG,POLGARFc.548A>G (p.Glu183Gly)
c.603A>G (p.Gly201=)
c.149A>G (p.Glu50Gly)
c.205A>G
n.746A>G
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333207T>GCA393770901POLG,POLGARFc.548A>C (p.Glu183Ala)
c.603A>C (p.Gly201=)
c.149A>C (p.Glu50Ala)
c.205A>C
n.746A>C
15g.89333207T=CA2194571662POLG,POLGARFc.548A= (p.Glu183=)
c.603A= (p.Gly201=)
c.149A= (p.Glu50=)
c.205A=
n.746A=
15g.89333207_89333208delinsTCCA2194571665POLG,POLGARFc.547_548delinsGA (p.Glu183=)
c.602_603delinsGA (p.Gly201=)
c.148_149delinsGA (p.Glu50=)
c.204_205delinsGA
n.745_746delinsGA
15g.89333208C>ACA393770908POLG,POLGARFc.547G>T (p.Glu183Ter)
c.602G>T (p.Gly201Val)
c.148G>T (p.Glu50Ter)
c.204G>T
n.745G>T
15g.89333208C=CA2194571674POLG,POLGARFc.547G= (p.Glu183=)
c.602G= (p.Gly201=)
c.148G= (p.Glu50=)
c.204G=
n.745G=
15g.89333208C>GCA7725096POLG,POLGARFc.547G>C (p.Glu183Gln)
c.602G>C (p.Gly201Ala)
c.148G>C (p.Glu50Gln)
c.204G>C
n.745G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333208C>TCA393770909POLG,POLGARFc.547G>A (p.Glu183Lys)
c.602G>A (p.Gly201Glu)
c.148G>A (p.Glu50Lys)
c.204G>A
n.745G>A
15g.89333212dupCA2630256928POLG,POLGARFc.547dup (p.Glu183GlyfsTer?)
c.602dup (p.Gly202ArgfsTer?)
c.148dup (p.Glu50GlyfsTer?)
c.204dup
n.745dup
 gnomAD v4
15g.89333212delCA274565865POLG,POLGARFc.547del (p.Glu183ArgfsTer?)
c.602del (p.Gly201GlufsTer?)
c.148del (p.Glu50ArgfsTer?)
c.204del
n.745del
 dbSNP gnomAD v4
15g.89333208_89333236dupCA2630256927POLG,POLGARFc.519_547dup (p.Glu183GlyfsTer?)
c.574_602dup (p.Arg203TrpfsTer?)
c.120_148dup (p.Glu50GlyfsTer?)
c.176_204dup
n.717_745dup
 gnomAD v4
15g.89333209C>ACA492289971POLG,POLGARFc.546G>T (p.Gly182=)
c.601G>T (p.Gly201Ter)
c.147G>T (p.Gly49=)
c.203G>T
n.744G>T
15g.89333209C>GCA492289972POLG,POLGARFc.546G>C (p.Gly182=)
c.601G>C (p.Gly201Arg)
c.147G>C (p.Gly49=)
c.203G>C
n.744G>C
15g.89333209C>TCA492289974POLG,POLGARFc.546G>A (p.Gly182=)
c.601G>A (p.Gly201Arg)
c.147G>A (p.Gly49=)
c.203G>A
n.744G>A
 gnomAD v4
15g.89333210C>ACA393770911POLG,POLGARFc.545G>T (p.Gly182Val)
c.600G>T (p.Gly200=)
c.146G>T (p.Gly49Val)
c.202G>T
n.743G>T
 dbSNP gnomAD v2
15g.89333210C=CA2194571681POLG,POLGARFc.545G= (p.Gly182=)
c.600G= (p.Gly200=)
c.146G= (p.Gly49=)
c.202G=
n.743G=
15g.89333210C>GCA393770914POLG,POLGARFc.545G>C (p.Gly182Ala)
c.600G>C (p.Gly200=)
c.146G>C (p.Gly49Ala)
c.202G>C
n.743G>C
 gnomAD v4
15g.89333210C>TCA393770915POLG,POLGARFc.545G>A (p.Gly182Glu)
c.600G>A (p.Gly200=)
c.146G>A (p.Gly49Glu)
c.202G>A
n.743G>A
15g.89333211C>ACA393770916POLG,POLGARFc.544G>T (p.Gly182Trp)
c.599G>T (p.Gly200Val)
c.145G>T (p.Gly49Trp)
c.201G>T
n.742G>T
 gnomAD v4
15g.89333211C=CA2194571689POLG,POLGARFc.544G= (p.Gly182=)
c.599G= (p.Gly200=)
c.145G= (p.Gly49=)
c.201G=
n.742G=
15g.89333211C>GCA7725097POLG,POLGARFc.544G>C (p.Gly182Arg)
c.599G>C (p.Gly200Ala)
c.145G>C (p.Gly49Arg)
c.201G>C
n.742G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333211C>TCA393770920POLG,POLGARFc.544G>A (p.Gly182Arg)
c.599G>A (p.Gly200Glu)
c.145G>A (p.Gly49Arg)
c.201G>A
n.742G>A
15g.89333212C>ACA393770927POLG,POLGARFc.543G>T (p.Glu181Asp)
c.598G>T (p.Gly200Trp)
c.144G>T (p.Glu48Asp)
c.200G>T
n.741G>T
 gnomAD v4
15g.89333212C=CA2194571712POLG,POLGARFc.543G= (p.Glu181=)
c.598G= (p.Gly200=)
c.144G= (p.Glu48=)
c.200G=
n.741G=
15g.89333212C>GCA393770930POLG,POLGARFc.543G>C (p.Glu181Asp)
c.598G>C (p.Gly200Arg)
c.144G>C (p.Glu48Asp)
c.200G>C
n.741G>C
15g.89333212C>TCA7725098POLG,POLGARFc.543G>A (p.Glu181=)
c.598G>A (p.Gly200Arg)
c.144G>A (p.Glu48=)
c.200G>A
n.741G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333213T>ACA393770938POLG,POLGARFc.542A>T (p.Glu181Val)
c.597A>T (p.Arg199=)
c.143A>T (p.Glu48Val)
c.199A>T
n.740A>T
15g.89333213T>CCA393770943POLG,POLGARFc.542A>G (p.Glu181Gly)
c.597A>G (p.Arg199=)
c.143A>G (p.Glu48Gly)
c.199A>G
n.740A>G
15g.89333213T>GCA7725099POLG,POLGARFc.542A>C (p.Glu181Ala)
c.597A>C (p.Arg199=)
c.143A>C (p.Glu48Ala)
c.199A>C
n.740A>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333213T=CA2194571714POLG,POLGARFc.542A= (p.Glu181=)
c.597A= (p.Arg199=)
c.143A= (p.Glu48=)
c.199A=
n.740A=
15g.89333214C>ACA393770949POLG,POLGARFc.541G>T (p.Glu181Ter)
c.596G>T (p.Arg199Leu)
c.142G>T (p.Glu48Ter)
c.198G>T
n.739G>T
 gnomAD v4
15g.89333214C=CA2194571718POLG,POLGARFc.541G= (p.Glu181=)
c.596G= (p.Arg199=)
c.142G= (p.Glu48=)
c.198G=
n.739G=
15g.89333214C>GCA393770951POLG,POLGARFc.541G>C (p.Glu181Gln)
c.596G>C (p.Arg199Pro)
c.142G>C (p.Glu48Gln)
c.198G>C
n.739G>C
15g.89333214C>TCA393770956POLG,POLGARFc.541G>A (p.Glu181Lys)
c.596G>A (p.Arg199Gln)
c.142G>A (p.Glu48Lys)
c.198G>A
n.739G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333214_89333215insACACA2805168370POLG,POLGARFc.540_541insTGT (p.Pro180_Glu181insCys)
c.595_596insTGT (p.Arg199LeufsTer2)
c.141_142insTGT (p.Pro47_Glu48insCys)
c.197_198insTGT
n.738_739insTGT
15g.89333215G>ACA492289983POLG,POLGARFc.540C>T (p.Pro180=)
c.595C>T (p.Arg199Ter)
c.141C>T (p.Pro47=)
c.197C>T
n.738C>T
 ClinVar gnomAD v4 COSMIC
15g.89333215G>CCA492289984POLG,POLGARFc.540C>G (p.Pro180=)
c.595C>G (p.Arg199Gly)
c.141C>G (p.Pro47=)
c.197C>G
n.738C>G
15g.89333215G>TCA492289985POLG,POLGARFc.540C>A (p.Pro180=)
c.595C>A (p.Arg199=)
c.141C>A (p.Pro47=)
c.197C>A
n.738C>A
 gnomAD v4
15g.89333218delCA2630256929POLG,POLGARFc.540del (p.Glu181ArgfsTer?)
c.595del (p.Arg199GlufsTer?)
c.141del (p.Glu48ArgfsTer?)
c.197del
n.738del
 gnomAD v4
15g.89333216G>ACA393770961POLG,POLGARFc.539C>T (p.Pro180Leu)
c.594C>T (p.Pro198=)
c.140C>T (p.Pro47Leu)
c.196C>T
n.737C>T
 ClinVar dbSNP gnomAD v4
15g.89333216G>CCA393770965POLG,POLGARFc.539C>G (p.Pro180Arg)
c.594C>G (p.Pro198=)
c.140C>G (p.Pro47Arg)
c.196C>G
n.737C>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333216G=CA2194571730POLG,POLGARFc.539C= (p.Pro180=)
c.594C= (p.Pro198=)
c.140C= (p.Pro47=)
c.196C=
n.737C=
15g.89333216G>TCA393770966POLG,POLGARFc.539C>A (p.Pro180His)
c.594C>A (p.Pro198=)
c.140C>A (p.Pro47His)
c.196C>A
n.737C>A
15g.89333217G>ACA10602292POLG,POLGARFc.538C>T (p.Pro180Ser)
c.593C>T (p.Pro198Leu)
c.139C>T (p.Pro47Ser)
c.195C>T
n.736C>T
 ClinVar dbSNP gnomAD v4
15g.89333217G>CCA393770967POLG,POLGARFc.538C>G (p.Pro180Ala)
c.593C>G (p.Pro198Arg)
c.139C>G (p.Pro47Ala)
c.195C>G
n.736C>G
15g.89333217G=CA2194571736POLG,POLGARFc.538C= (p.Pro180=)
c.593C= (p.Pro198=)
c.139C= (p.Pro47=)
c.195C=
n.736C=
15g.89333217G>TCA393770969POLG,POLGARFc.538C>A (p.Pro180Thr)
c.593C>A (p.Pro198His)
c.139C>A (p.Pro47Thr)
c.195C>A
n.736C>A
15g.89333218G>ACA274565873POLG,POLGARFc.537C>T (p.Gly179=)
c.592C>T (p.Pro198Ser)
c.138C>T (p.Gly46=)
c.194C>T
n.735C>T
 dbSNP gnomAD v4
15g.89333218G>CCA492289987POLG,POLGARFc.537C>G (p.Gly179=)
c.592C>G (p.Pro198Ala)
c.138C>G (p.Gly46=)
c.194C>G
n.735C>G
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333218G=CA2194571745POLG,POLGARFc.537C= (p.Gly179=)
c.592C= (p.Pro198=)
c.138C= (p.Gly46=)
c.194C=
n.735C=
15g.89333218G>TCA492289988POLG,POLGARFc.537C>A (p.Gly179=)
c.592C>A (p.Pro198Thr)
c.138C>A (p.Gly46=)
c.194C>A
n.735C>A
 gnomAD v4
15g.89333219C>ACA393770972POLG,POLGARFc.536G>T (p.Gly179Val)
c.591G>T (p.Arg197=)
c.137G>T (p.Gly46Val)
c.193G>T
n.734G>T
 ClinVar gnomAD v4
15g.89333219C>GCA393770975POLG,POLGARFc.536G>C (p.Gly179Ala)
c.591G>C (p.Arg197=)
c.137G>C (p.Gly46Ala)
c.193G>C
n.734G>C
15g.89333219C>TCA393770978POLG,POLGARFc.536G>A (p.Gly179Asp)
c.591G>A (p.Arg197=)
c.137G>A (p.Gly46Asp)
c.193G>A
n.734G>A
 gnomAD v4
15g.89333220C>ACA393770987POLG,POLGARFc.535G>T (p.Gly179Cys)
c.590G>T (p.Arg197Leu)
c.136G>T (p.Gly46Cys)
c.192G>T
n.733G>T
15g.89333220C>GCA393770982POLG,POLGARFc.535G>C (p.Gly179Arg)
c.590G>C (p.Arg197Pro)
c.136G>C (p.Gly46Arg)
c.192G>C
n.733G>C
15g.89333220C>TCA393770986POLG,POLGARFc.535G>A (p.Gly179Ser)
c.590G>A (p.Arg197Gln)
c.136G>A (p.Gly46Ser)
c.192G>A
n.733G>A
 dbSNP gnomAD v4
15g.89333221G>ACA7725100POLG,POLGARFc.534C>T (p.Tyr178=)
c.589C>T (p.Arg197Trp)
c.135C>T (p.Tyr45=)
c.191C>T
n.732C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333221G>CCA393770989POLG,POLGARFc.534C>G (p.Tyr178Ter)
c.589C>G (p.Arg197Gly)
c.135C>G (p.Tyr45Ter)
c.191C>G
n.732C>G
15g.89333221G=CA2194571755POLG,POLGARFc.534C= (p.Tyr178=)
c.589C= (p.Arg197=)
c.135C= (p.Tyr45=)
c.191C=
n.732C=
15g.89333221G>TCA393770991POLG,POLGARFc.534C>A (p.Tyr178Ter)
c.589C>A (p.Arg197=)
c.135C>A (p.Tyr45Ter)
c.191C>A
n.732C>A
15g.89333222T>ACA393770996POLG,POLGARFc.533A>T (p.Tyr178Phe)
c.588A>T (p.Val196=)
c.134A>T (p.Tyr45Phe)
c.190A>T
n.731A>T
15g.89333222T>CCA393771004POLG,POLGARFc.533A>G (p.Tyr178Cys)
c.588A>G (p.Val196=)
c.134A>G (p.Tyr45Cys)
c.190A>G
n.731A>G
 gnomAD v4
15g.89333222T>GCA393771008POLG,POLGARFc.533A>C (p.Tyr178Ser)
c.588A>C (p.Val196=)
c.134A>C (p.Tyr45Ser)
c.190A>C
n.731A>C
15g.89333223A>CCA393771016POLG,POLGARFc.532T>G (p.Tyr178Asp)
c.587T>G (p.Val196Gly)
c.133T>G (p.Tyr45Asp)
c.189T>G
n.730T>G
15g.89333223A>GCA393771018POLG,POLGARFc.532T>C (p.Tyr178His)
c.587T>C (p.Val196Ala)
c.133T>C (p.Tyr45His)
c.189T>C
n.730T>C
15g.89333223A>TCA393771022POLG,POLGARFc.532T>A (p.Tyr178Asn)
c.587T>A (p.Val196Glu)
c.133T>A (p.Tyr45Asn)
c.189T>A
n.730T>A
15g.89333224C>ACA492289995POLG,POLGARFc.531G>T (p.Arg177=)
c.586G>T (p.Val196Leu)
c.132G>T (p.Arg44=)
c.188G>T
n.729G>T
 gnomAD v4
15g.89333224C>GCA492289997POLG,POLGARFc.531G>C (p.Arg177=)
c.586G>C (p.Val196Leu)
c.132G>C (p.Arg44=)
c.188G>C
n.729G>C
15g.89333224C>TCA492289999POLG,POLGARFc.531G>A (p.Arg177=)
c.586G>A (p.Val196Ile)
c.132G>A (p.Arg44=)
c.188G>A
n.729G>A
 ClinVar gnomAD v4
15g.89333225C>ACA393771026POLG,POLGARFc.530G>T (p.Arg177Leu)
c.585G>T (p.Pro195=)
c.131G>T (p.Arg44Leu)
c.187G>T
n.728G>T
 ClinVar gnomAD v4
15g.89333225C>GCA393771029POLG,POLGARFc.530G>C (p.Arg177Pro)
c.585G>C (p.Pro195=)
c.131G>C (p.Arg44Pro)
c.187G>C
n.728G>C
15g.89333225C>TCA393771032POLG,POLGARFc.530G>A (p.Arg177Gln)
c.585G>A (p.Pro195=)
c.131G>A (p.Arg44Gln)
c.187G>A
n.728G>A
 gnomAD v4
15g.89333226G>ACA393771034POLG,POLGARFc.529C>T (p.Arg177Trp)
c.584C>T (p.Pro195Leu)
c.130C>T (p.Arg44Trp)
c.186C>T
n.727C>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333226G>CCA393771036POLG,POLGARFc.529C>G (p.Arg177Gly)
c.584C>G (p.Pro195Arg)
c.130C>G (p.Arg44Gly)
c.186C>G
n.727C>G
15g.89333226G=CA2194571760POLG,POLGARFc.529C= (p.Arg177=)
c.584C= (p.Pro195=)
c.130C= (p.Arg44=)
c.186C=
n.727C=
15g.89333226G>TCA492290001POLG,POLGARFc.529C>A (p.Arg177=)
c.584C>A (p.Pro195Gln)
c.130C>A (p.Arg44=)
c.186C>A
n.727C>A
 gnomAD v4
15g.89333227G>ACA7725101POLG,POLGARFc.528C>T (p.Thr176=)
c.583C>T (p.Pro195Ser)
c.129C>T (p.Thr43=)
c.185C>T
n.726C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333227G>CCA492290005POLG,POLGARFc.528C>G (p.Thr176=)
c.583C>G (p.Pro195Ala)
c.129C>G (p.Thr43=)
c.185C>G
n.726C>G
15g.89333227G=CA2194571768POLG,POLGARFc.528C= (p.Thr176=)
c.583C= (p.Pro195=)
c.129C= (p.Thr43=)
c.185C=
n.726C=
15g.89333227G>TCA492290003POLG,POLGARFc.528C>A (p.Thr176=)
c.583C>A (p.Pro195Thr)
c.129C>A (p.Thr43=)
c.185C>A
n.726C>A
15g.89333228G>ACA393771049POLG,POLGARFc.527C>T (p.Thr176Ile)
c.582C>T (p.Asp194=)
c.128C>T (p.Thr43Ile)
c.184C>T
n.725C>T
15g.89333228G>CCA393771043POLG,POLGARFc.527C>G (p.Thr176Ser)
c.582C>G (p.Asp194Glu)
c.128C>G (p.Thr43Ser)
c.184C>G
n.725C>G
15g.89333228G>TCA393771047POLG,POLGARFc.527C>A (p.Thr176Asn)
c.582C>A (p.Asp194Glu)
c.128C>A (p.Thr43Asn)
c.184C>A
n.725C>A
15g.89333229T>ACA393771053POLG,POLGARFc.526A>T (p.Thr176Ser)
c.581A>T (p.Asp194Val)
c.127A>T (p.Thr43Ser)
c.183A>T
n.724A>T
15g.89333229T>CCA393771056POLG,POLGARFc.526A>G (p.Thr176Ala)
c.581A>G (p.Asp194Gly)
c.127A>G (p.Thr43Ala)
c.183A>G
n.724A>G
 gnomAD v4
15g.89333229T>GCA393771058POLG,POLGARFc.526A>C (p.Thr176Pro)
c.581A>C (p.Asp194Ala)
c.127A>C (p.Thr43Pro)
c.183A>C
n.724A>C
15g.89333230C>ACA393771062POLG,POLGARFc.525G>T (p.Trp175Cys)
c.580G>T (p.Asp194Tyr)
c.126G>T (p.Trp42Cys)
c.182G>T
n.723G>T
 gnomAD v4
15g.89333230C>GCA393771065POLG,POLGARFc.525G>C (p.Trp175Cys)
c.580G>C (p.Asp194His)
c.126G>C (p.Trp42Cys)
c.182G>C
n.723G>C
15g.89333230C>TCA393771068POLG,POLGARFc.525G>A (p.Trp175Ter)
c.580G>A (p.Asp194Asn)
c.126G>A (p.Trp42Ter)
c.182G>A
n.723G>A
15g.89333234_89333245delCA2580090384POLG,POLGARFc.514_525del (p.Ala172_Trp175del)
c.569_580del (p.Gly190_Leu193del)
c.115_126del (p.Ala39_Trp42del)
c.171_182del
n.712_723del
 ClinVar
15g.89333231C>ACA393771072POLG,POLGARFc.524G>T (p.Trp175Leu)
c.579G>T (p.Leu193=)
c.125G>T (p.Trp42Leu)
c.181G>T
n.722G>T
 gnomAD v4
15g.89333231C=CA2194571774POLG,POLGARFc.524G= (p.Trp175=)
c.579G= (p.Leu193=)
c.125G= (p.Trp42=)
c.181G=
n.722G=
15g.89333231C>GCA393771075POLG,POLGARFc.524G>C (p.Trp175Ser)
c.579G>C (p.Leu193=)
c.125G>C (p.Trp42Ser)
c.181G>C
n.722G>C
 dbSNP
15g.89333231C>TCA393771078POLG,POLGARFc.524G>A (p.Trp175Ter)
c.579G>A (p.Leu193=)
c.125G>A (p.Trp42Ter)
c.181G>A
n.722G>A
 gnomAD v4
15g.89333232A=CA2194571779POLG,POLGARFc.523T= (p.Trp175=)
c.578T= (p.Leu193=)
c.124T= (p.Trp42=)
c.180T=
n.721T=
15g.89333232A>CCA393771084POLG,POLGARFc.523T>G (p.Trp175Gly)
c.578T>G (p.Leu193Arg)
c.124T>G (p.Trp42Gly)
c.180T>G
n.721T>G
15g.89333232A>GCA393771082POLG,POLGARFc.523T>C (p.Trp175Arg)
c.578T>C (p.Leu193Pro)
c.124T>C (p.Trp42Arg)
c.180T>C
n.721T>C
15g.89333232A>TCA7725102POLG,POLGARFc.523T>A (p.Trp175Arg)
c.578T>A (p.Leu193Gln)
c.124T>A (p.Trp42Arg)
c.180T>A
n.721T>A
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333233G>ACA492290010POLG,POLGARFc.522C>T (p.Gly174=)
c.577C>T (p.Leu193=)
c.123C>T (p.Gly41=)
c.179C>T
n.720C>T
 gnomAD v4
15g.89333233G>CCA7725103POLG,POLGARFc.522C>G (p.Gly174=)
c.577C>G (p.Leu193Val)
c.123C>G (p.Gly41=)
c.179C>G
n.720C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333233G=CA2194571794POLG,POLGARFc.522C= (p.Gly174=)
c.577C= (p.Leu193=)
c.123C= (p.Gly41=)
c.179C=
n.720C=
15g.89333233G>TCA492290011POLG,POLGARFc.522C>A (p.Gly174=)
c.577C>A (p.Leu193Met)
c.123C>A (p.Gly41=)
c.179C>A
n.720C>A
 gnomAD v4
15g.89333234C>ACA393771091POLG,POLGARFc.521G>T (p.Gly174Val)
c.576G>T (p.Gly192=)
c.122G>T (p.Gly41Val)
c.178G>T
n.719G>T
 gnomAD v4
15g.89333234C>GCA393771094POLG,POLGARFc.521G>C (p.Gly174Ala)
c.576G>C (p.Gly192=)
c.122G>C (p.Gly41Ala)
c.178G>C
n.719G>C
 gnomAD v4
15g.89333234C>TCA393771097POLG,POLGARFc.521G>A (p.Gly174Asp)
c.576G>A (p.Gly192=)
c.122G>A (p.Gly41Asp)
c.178G>A
n.719G>A
 gnomAD v4
15g.89333235C>ACA393771100POLG,POLGARFc.520G>T (p.Gly174Cys)
c.575G>T (p.Gly192Val)
c.121G>T (p.Gly41Cys)
c.177G>T
n.718G>T
 gnomAD v4
15g.89333235C=CA2194571803POLG,POLGARFc.520G= (p.Gly174=)
c.575G= (p.Gly192=)
c.121G= (p.Gly41=)
c.177G=
n.718G=
15g.89333235C>GCA393771102POLG,POLGARFc.520G>C (p.Gly174Arg)
c.575G>C (p.Gly192Ala)
c.121G>C (p.Gly41Arg)
c.177G>C
n.718G>C
15g.89333235C>TCA316883POLG,POLGARFc.520G>A (p.Gly174Ser)
c.575G>A (p.Gly192Glu)
c.121G>A (p.Gly41Ser)
c.177G>A
n.718G>A
 ClinVar dbSNP
15g.89333236C>ACA393771107POLG,POLGARFc.519G>T (p.Glu173Asp)
c.574G>T (p.Gly192Trp)
c.120G>T (p.Glu40Asp)
c.176G>T
n.717G>T
 gnomAD v4
15g.89333236C=CA2194571810POLG,POLGARFc.519G= (p.Glu173=)
c.574G= (p.Gly192=)
c.120G= (p.Glu40=)
c.176G=
n.717G=
15g.89333236C>GCA393771109POLG,POLGARFc.519G>C (p.Glu173Asp)
c.574G>C (p.Gly192Arg)
c.120G>C (p.Glu40Asp)
c.176G>C
n.717G>C
15g.89333236C>TCA7725104POLG,POLGARFc.519G>A (p.Glu173=)
c.574G>A (p.Gly192Arg)
c.120G>A (p.Glu40=)
c.176G>A
n.717G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333237T>ACA393771115POLG,POLGARFc.518A>T (p.Glu173Val)
c.573A>T (p.Gly191=)
c.119A>T (p.Glu40Val)
c.175A>T
n.716A>T
15g.89333237T>CCA393771119POLG,POLGARFc.518A>G (p.Glu173Gly)
c.573A>G (p.Gly191=)
c.119A>G (p.Glu40Gly)
c.175A>G
n.716A>G
 ClinVar dbSNP gnomAD v4
15g.89333237T>GCA393771122POLG,POLGARFc.518A>C (p.Glu173Ala)
c.573A>C (p.Gly191=)
c.119A>C (p.Glu40Ala)
c.175A>C
n.716A>C
15g.89333238C>ACA393771132POLG,POLGARFc.517G>T (p.Glu173Ter)
c.572G>T (p.Gly191Val)
c.118G>T (p.Glu40Ter)
c.174G>T
n.715G>T
15g.89333238C=CA2194571817POLG,POLGARFc.517G= (p.Glu173=)
c.572G= (p.Gly191=)
c.118G= (p.Glu40=)
c.174G=
n.715G=
15g.89333238C>GCA393771129POLG,POLGARFc.517G>C (p.Glu173Gln)
c.572G>C (p.Gly191Ala)
c.118G>C (p.Glu40Gln)
c.174G>C
n.715G>C
 dbSNP
15g.89333238C>TCA393771126POLG,POLGARFc.517G>A (p.Glu173Lys)
c.572G>A (p.Gly191Glu)
c.118G>A (p.Glu40Lys)
c.174G>A
n.715G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333239C>ACA492290013POLG,POLGARFc.516G>T (p.Ala172=)
c.571G>T (p.Gly191Ter)
c.117G>T (p.Ala39=)
c.173G>T
n.714G>T
 gnomAD v4
15g.89333239C=CA2194571822POLG,POLGARFc.516G= (p.Ala172=)
c.571G= (p.Gly191=)
c.117G= (p.Ala39=)
c.173G=
n.714G=
15g.89333239C>GCA492290014POLG,POLGARFc.516G>C (p.Ala172=)
c.571G>C (p.Gly191Arg)
c.117G>C (p.Ala39=)
c.173G>C
n.714G>C
15g.89333239C>TCA10602291POLG,POLGARFc.516G>A (p.Ala172=)
c.571G>A (p.Gly191Arg)
c.117G>A (p.Ala39=)
c.173G>A
n.714G>A
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333240_89333241delCA2805168371POLG,POLGARFc.515_516del (p.Ala172GlyfsTer?)
c.570_571del (p.Gly191ArgfsTer?)
c.116_117del (p.Ala39GlyfsTer?)
c.172_173del
n.713_714del
15g.89333240G>ACA393771140POLG,POLGARFc.515C>T (p.Ala172Val)
c.570C>T (p.Gly190=)
c.116C>T (p.Ala39Val)
c.172C>T
n.713C>T
 gnomAD v4
15g.89333240G>CCA393771135POLG,POLGARFc.515C>G (p.Ala172Gly)
c.570C>G (p.Gly190=)
c.116C>G (p.Ala39Gly)
c.172C>G
n.713C>G
15g.89333240G>TCA393771138POLG,POLGARFc.515C>A (p.Ala172Glu)
c.570C>A (p.Gly190=)
c.116C>A (p.Ala39Glu)
c.172C>A
n.713C>A
 gnomAD v4
15g.89333245_89333250dupCA2573151274POLG,POLGARFc.510_515dup (p.Ala172_Glu173insTrpAla)
c.565_570dup (p.Gly190_Gly191insLeuGly)
c.111_116dup (p.Ala39_Glu40insTrpAla)
c.167_172dup
n.708_713dup
 ClinVar dbSNP
15g.89333241C>ACA274565886POLG,POLGARFc.514G>T (p.Ala172Ser)
c.569G>T (p.Gly190Val)
c.115G>T (p.Ala39Ser)
c.171G>T
n.712G>T
 dbSNP
15g.89333241C=CA2194571829POLG,POLGARFc.514G= (p.Ala172=)
c.569G= (p.Gly190=)
c.115G= (p.Ala39=)
c.171G=
n.712G=
15g.89333241C>GCA393771145POLG,POLGARFc.514G>C (p.Ala172Pro)
c.569G>C (p.Gly190Ala)
c.115G>C (p.Ala39Pro)
c.171G>C
n.712G>C
15g.89333241C>TCA393771148POLG,POLGARFc.514G>A (p.Ala172Thr)
c.569G>A (p.Gly190Asp)
c.115G>A (p.Ala39Thr)
c.171G>A
n.712G>A
 gnomAD v4
15g.89333242C>ACA393771157POLG,POLGARFc.513G>T (p.Trp171Cys)
c.568G>T (p.Gly190Cys)
c.114G>T (p.Trp38Cys)
c.170G>T
n.711G>T
 gnomAD v4
15g.89333242C>GCA393771154POLG,POLGARFc.513G>C (p.Trp171Cys)
c.568G>C (p.Gly190Arg)
c.114G>C (p.Trp38Cys)
c.170G>C
n.711G>C
 gnomAD v4
15g.89333242C>TCA393771151POLG,POLGARFc.513G>A (p.Trp171Ter)
c.568G>A (p.Gly190Ser)
c.114G>A (p.Trp38Ter)
c.170G>A
n.711G>A
15g.89333243C>ACA393771160POLG,POLGARFc.512G>T (p.Trp171Leu)
c.567G>T (p.Leu189=)
c.113G>T (p.Trp38Leu)
c.169G>T
n.710G>T
 gnomAD v4
15g.89333243C=CA2194571833POLG,POLGARFc.512G= (p.Trp171=)
c.567G= (p.Leu189=)
c.113G= (p.Trp38=)
c.169G=
n.710G=
15g.89333243C>GCA393771163POLG,POLGARFc.512G>C (p.Trp171Ser)
c.567G>C (p.Leu189=)
c.113G>C (p.Trp38Ser)
c.169G>C
n.710G>C
 gnomAD v4
15g.89333243C>TCA274565887POLG,POLGARFc.512G>A (p.Trp171Ter)
c.567G>A (p.Leu189=)
c.113G>A (p.Trp38Ter)
c.169G>A
n.710G>A
 dbSNP gnomAD v3 gnomAD v4
15g.89333244A>CCA393771169POLG,POLGARFc.511T>G (p.Trp171Gly)
c.566T>G (p.Leu189Arg)
c.112T>G (p.Trp38Gly)
c.168T>G
n.709T>G
15g.89333244A>GCA393771170POLG,POLGARFc.511T>C (p.Trp171Arg)
c.566T>C (p.Leu189Pro)
c.112T>C (p.Trp38Arg)
c.168T>C
n.709T>C
 gnomAD v4
15g.89333244A>TCA393771172POLG,POLGARFc.511T>A (p.Trp171Arg)
c.566T>A (p.Leu189Gln)
c.112T>A (p.Trp38Arg)
c.168T>A
n.709T>A
15g.89333245G>ACA492290023POLG,POLGARFc.510C>T (p.Ala170=)
c.565C>T (p.Leu189=)
c.111C>T (p.Ala37=)
c.167C>T
n.708C>T
 gnomAD v4 COSMIC
15g.89333245G>CCA492290024POLG,POLGARFc.510C>G (p.Ala170=)
c.565C>G (p.Leu189Val)
c.111C>G (p.Ala37=)
c.167C>G
n.708C>G
 ClinVar gnomAD v4
15g.89333245G>TCA492290026POLG,POLGARFc.510C>A (p.Ala170=)
c.565C>A (p.Leu189Met)
c.111C>A (p.Ala37=)
c.167C>A
n.708C>A
15g.89333246G>ACA7725105POLG,POLGARFc.509C>T (p.Ala170Val)
c.564C>T (p.Gly188=)
c.110C>T (p.Ala37Val)
c.166C>T
n.707C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333246G>CCA393771182POLG,POLGARFc.509C>G (p.Ala170Gly)
c.564C>G (p.Gly188=)
c.110C>G (p.Ala37Gly)
c.166C>G
n.707C>G
15g.89333246G=CA2194571840POLG,POLGARFc.509C= (p.Ala170=)
c.564C= (p.Gly188=)
c.110C= (p.Ala37=)
c.166C=
n.707C=
15g.89333246G>TCA393771179POLG,POLGARFc.509C>A (p.Ala170Asp)
c.564C>A (p.Gly188=)
c.110C>A (p.Ala37Asp)
c.166C>A
n.707C>A
 gnomAD v4
15g.89333247C>ACA393771185POLG,POLGARFc.508G>T (p.Ala170Ser)
c.563G>T (p.Gly188Val)
c.109G>T (p.Ala37Ser)
c.165G>T
n.706G>T
 ClinVar gnomAD v4
15g.89333247C>GCA393771187POLG,POLGARFc.508G>C (p.Ala170Pro)
c.563G>C (p.Gly188Ala)
c.109G>C (p.Ala37Pro)
c.165G>C
n.706G>C
15g.89333247C>TCA393771191POLG,POLGARFc.508G>A (p.Ala170Thr)
c.563G>A (p.Gly188Asp)
c.109G>A (p.Ala37Thr)
c.165G>A
n.706G>A
 gnomAD v4
15g.89333249delCA2695197359POLG,POLGARFc.508del (p.Ala170ProfsTer?)
c.563del (p.Gly188AlafsTer?)
c.109del (p.Ala37ProfsTer?)
c.165del
n.706del
 ClinVar
15g.89333248C>ACA393771196POLG,POLGARFc.507G>T (p.Trp169Cys)
c.562G>T (p.Gly188Cys)
c.108G>T (p.Trp36Cys)
c.164G>T
n.705G>T
 gnomAD v4
15g.89333248C>GCA393771198POLG,POLGARFc.507G>C (p.Trp169Cys)
c.562G>C (p.Gly188Arg)
c.108G>C (p.Trp36Cys)
c.164G>C
n.705G>C
15g.89333248C>TCA393771200POLG,POLGARFc.507G>A (p.Trp169Ter)
c.562G>A (p.Gly188Ser)
c.108G>A (p.Trp36Ter)
c.164G>A
n.705G>A
15g.89333249C>ACA393771203POLG,POLGARFc.506G>T (p.Trp169Leu)
c.561G>T (p.Leu187Phe)
c.107G>T (p.Trp36Leu)
c.163G>T
n.704G>T
 gnomAD v4
15g.89333249C>GCA393771206POLG,POLGARFc.506G>C (p.Trp169Ser)
c.561G>C (p.Leu187Phe)
c.107G>C (p.Trp36Ser)
c.163G>C
n.704G>C
15g.89333249C>TCA393771210POLG,POLGARFc.506G>A (p.Trp169Ter)
c.561G>A (p.Leu187=)
c.107G>A (p.Trp36Ter)
c.163G>A
n.704G>A
 gnomAD v4
15g.89333250A>CCA393771214POLG,POLGARFc.505T>G (p.Trp169Gly)
c.560T>G (p.Leu187Trp)
c.106T>G (p.Trp36Gly)
c.162T>G
n.703T>G
15g.89333250A>GCA393771217POLG,POLGARFc.505T>C (p.Trp169Arg)
c.560T>C (p.Leu187Ser)
c.106T>C (p.Trp36Arg)
c.162T>C
n.703T>C
15g.89333250A>TCA393771220POLG,POLGARFc.505T>A (p.Trp169Arg)
c.560T>A (p.Leu187Ter)
c.106T>A (p.Trp36Arg)
c.162T>A
n.703T>A
15g.89333251delCA912994747POLG,POLGARFc.505del (p.Trp169GlyfsTer?)
c.560del (p.Leu187TrpfsTer?)
c.106del (p.Trp36GlyfsTer?)
c.162del
n.703del
15g.89333251A>CCA492290029POLG,POLGARFc.504T>G (p.Ala168=)
c.559T>G (p.Leu187Val)
c.105T>G (p.Ala35=)
c.161T>G
n.702T>G
15g.89333251A>GCA492290030POLG,POLGARFc.504T>C (p.Ala168=)
c.559T>C (p.Leu187=)
c.105T>C (p.Ala35=)
c.161T>C
n.702T>C
 gnomAD v4
15g.89333251A>TCA492290031POLG,POLGARFc.504T>A (p.Ala168=)
c.559T>A (p.Leu187Met)
c.105T>A (p.Ala35=)
c.161T>A
n.702T>A
15g.89333252G>ACA393771227POLG,POLGARFc.503C>T (p.Ala168Val)
c.558C>T (p.Gly186=)
c.104C>T (p.Ala35Val)
c.160C>T
n.701C>T
15g.89333252G>CCA393771230POLG,POLGARFc.503C>G (p.Ala168Gly)
c.558C>G (p.Gly186=)
c.104C>G (p.Ala35Gly)
c.160C>G
n.701C>G
15g.89333252G>TCA393771226POLG,POLGARFc.503C>A (p.Ala168Asp)
c.558C>A (p.Gly186=)
c.104C>A (p.Ala35Asp)
c.160C>A
n.701C>A
 gnomAD v4
15g.89333253C>ACA393771235POLG,POLGARFc.502G>T (p.Ala168Ser)
c.557G>T (p.Gly186Val)
c.103G>T (p.Ala35Ser)
c.159G>T
n.700G>T
 dbSNP gnomAD v4
15g.89333253C=CA2194571847POLG,POLGARFc.502G= (p.Ala168=)
c.557G= (p.Gly186=)
c.103G= (p.Ala35=)
c.159G=
n.700G=
15g.89333253C>GCA393771242POLG,POLGARFc.502G>C (p.Ala168Pro)
c.557G>C (p.Gly186Ala)
c.103G>C (p.Ala35Pro)
c.159G>C
n.700G>C
 ClinVar dbSNP
15g.89333253C>TCA393771237POLG,POLGARFc.502G>A (p.Ala168Thr)
c.557G>A (p.Gly186Asp)
c.103G>A (p.Ala35Thr)
c.159G>A
n.700G>A
 dbSNP
15g.89333254C>ACA492290036POLG,POLGARFc.501G>T (p.Pro167=)
c.556G>T (p.Gly186Cys)
c.102G>T (p.Pro34=)
c.158G>T
n.699G>T
 gnomAD v4
15g.89333254C=CA2194571854POLG,POLGARFc.501G= (p.Pro167=)
c.556G= (p.Gly186=)
c.102G= (p.Pro34=)
c.158G=
n.699G=
15g.89333254C>GCA492290037POLG,POLGARFc.501G>C (p.Pro167=)
c.556G>C (p.Gly186Arg)
c.102G>C (p.Pro34=)
c.158G>C
n.699G>C
 ClinVar
15g.89333254C>TCA10606974POLG,POLGARFc.501G>A (p.Pro167=)
c.556G>A (p.Gly186Ser)
c.102G>A (p.Pro34=)
c.158G>A
n.699G>A
 ClinVar dbSNP gnomAD v4
15g.89333261_89333269delCA2630256930POLG,POLGARFc.493_501del (p.Lys165_Pro167del)
c.548_556del (p.Glu183_Pro185del)
c.94_102del (p.Lys32_Pro34del)
c.150_158del
n.691_699del
 gnomAD v4
15g.89333255G>ACA393771248POLG,POLGARFc.500C>T (p.Pro167Leu)
c.555C>T (p.Pro185=)
c.101C>T (p.Pro34Leu)
c.157C>T
n.698C>T
 ClinVar dbSNP gnomAD v4
15g.89333255G>CCA393771250POLG,POLGARFc.500C>G (p.Pro167Arg)
c.555C>G (p.Pro185=)
c.101C>G (p.Pro34Arg)
c.157C>G
n.698C>G
 dbSNP gnomAD v2 gnomAD v4
15g.89333255G=CA2194571856POLG,POLGARFc.500C= (p.Pro167=)
c.555C= (p.Pro185=)
c.101C= (p.Pro34=)
c.157C=
n.698C=
15g.89333255G>TCA393771253POLG,POLGARFc.500C>A (p.Pro167Gln)
c.555C>A (p.Pro185=)
c.101C>A (p.Pro34Gln)
c.157C>A
n.698C>A
 gnomAD v4
15g.89333259delCA2630256931POLG,POLGARFc.500del (p.Pro167ArgfsTer?)
c.555del (p.Gly186AlafsTer?)
c.101del (p.Pro34ArgfsTer?)
c.157del
n.698del
 gnomAD v4
15g.89333256G>ACA393771257POLG,POLGARFc.499C>T (p.Pro167Ser)
c.554C>T (p.Pro185Leu)
c.100C>T (p.Pro34Ser)
c.156C>T
n.697C>T
 gnomAD v4
15g.89333256G>CCA393771260POLG,POLGARFc.499C>G (p.Pro167Ala)
c.554C>G (p.Pro185Arg)
c.100C>G (p.Pro34Ala)
c.156C>G
n.697C>G
15g.89333256G>TCA393771264POLG,POLGARFc.499C>A (p.Pro167Thr)
c.554C>A (p.Pro185His)
c.100C>A (p.Pro34Thr)
c.156C>A
n.697C>A
15g.89333257G>ACA492289913POLG,POLGARFc.498C>T (p.Pro166=)
c.553C>T (p.Pro185Ser)
c.99C>T (p.Pro33=)
c.155C>T
n.696C>T
15g.89333257G>CCA492289914POLG,POLGARFc.498C>G (p.Pro166=)
c.553C>G (p.Pro185Ala)
c.99C>G (p.Pro33=)
c.155C>G
n.696C>G
15g.89333257G>TCA492289915POLG,POLGARFc.498C>A (p.Pro166=)
c.553C>A (p.Pro185Thr)
c.99C>A (p.Pro33=)
c.155C>A
n.696C>A
 gnomAD v4
15g.89333258G>ACA393771268POLG,POLGARFc.497C>T (p.Pro166Leu)
c.552C>T (p.Ala184=)
c.98C>T (p.Pro33Leu)
c.154C>T
n.695C>T
 ClinVar gnomAD v4
15g.89333258G>CCA393771271POLG,POLGARFc.497C>G (p.Pro166Arg)
c.552C>G (p.Ala184=)
c.98C>G (p.Pro33Arg)
c.154C>G
n.695C>G
15g.89333258G=CA2194571861POLG,POLGARFc.497C= (p.Pro166=)
c.552C= (p.Ala184=)
c.98C= (p.Pro33=)
c.154C=
n.695C=
15g.89333258G>TCA393771274POLG,POLGARFc.497C>A (p.Pro166His)
c.552C>A (p.Ala184=)
c.98C>A (p.Pro33His)
c.154C>A
n.695C>A
 dbSNP gnomAD v3 gnomAD v4
15g.89333259G>ACA393771281POLG,POLGARFc.496C>T (p.Pro166Ser)
c.551C>T (p.Ala184Val)
c.97C>T (p.Pro33Ser)
c.153C>T
n.694C>T
 ClinVar gnomAD v4
15g.89333259G>CCA393771278POLG,POLGARFc.496C>G (p.Pro166Ala)
c.551C>G (p.Ala184Gly)
c.97C>G (p.Pro33Ala)
c.153C>G
n.694C>G
 gnomAD v4
15g.89333259G>TCA393771276POLG,POLGARFc.496C>A (p.Pro166Thr)
c.551C>A (p.Ala184Asp)
c.97C>A (p.Pro33Thr)
c.153C>A
n.694C>A
15g.89333260C>ACA393771284POLG,POLGARFc.495G>T (p.Lys165Asn)
c.550G>T (p.Ala184Ser)
c.96G>T (p.Lys32Asn)
c.152G>T
n.693G>T
 gnomAD v4
15g.89333260C>GCA393771286POLG,POLGARFc.495G>C (p.Lys165Asn)
c.550G>C (p.Ala184Pro)
c.96G>C (p.Lys32Asn)
c.152G>C
n.693G>C
15g.89333260C>TCA492289918POLG,POLGARFc.495G>A (p.Lys165=)
c.550G>A (p.Ala184Thr)
c.96G>A (p.Lys32=)
c.152G>A
n.693G>A
15g.89333260_89333262delinsCTTCA2194571864POLG,POLGARFc.493_495delinsAAG (p.Lys165=)
c.548_550delinsAAG (p.Glu183=)
c.94_96delinsAAG (p.Lys32=)
c.150_152delinsAAG
n.691_693delinsAAG
15g.89333261T>ACA393771291POLG,POLGARFc.494A>T (p.Lys165Met)
c.549A>T (p.Glu183Asp)
c.95A>T (p.Lys32Met)
c.151A>T
n.692A>T
15g.89333261T>CCA393771292POLG,POLGARFc.494A>G (p.Lys165Arg)
c.549A>G (p.Glu183=)
c.95A>G (p.Lys32Arg)
c.151A>G
n.692A>G
 ClinVar dbSNP
15g.89333261T>GCA393771294POLG,POLGARFc.494A>C (p.Lys165Thr)
c.549A>C (p.Glu183Asp)
c.95A>C (p.Lys32Thr)
c.151A>C
n.692A>C
15g.89333261T=CA2194571872POLG,POLGARFc.494A= (p.Lys165=)
c.549A= (p.Glu183=)
c.95A= (p.Lys32=)
c.151A=
n.692A=
15g.89333261_89333262delCA2194571906POLG,POLGARFc.493_494del (p.Lys165AlafsTer?)
c.548_549del (p.Glu183GlyfsTer?)
c.94_95del (p.Lys32AlafsTer?)
c.150_151del
n.691_692del
 dbSNP
15g.89333262T>ACA393771299POLG,POLGARFc.493A>T (p.Lys165Ter)
c.548A>T (p.Glu183Val)
c.94A>T (p.Lys32Ter)
c.150A>T
n.691A>T
15g.89333262T>CCA393771302POLG,POLGARFc.493A>G (p.Lys165Glu)
c.548A>G (p.Glu183Gly)
c.94A>G (p.Lys32Glu)
c.150A>G
n.691A>G
 gnomAD v4
15g.89333262T>GCA393771304POLG,POLGARFc.493A>C (p.Lys165Gln)
c.548A>C (p.Glu183Ala)
c.94A>C (p.Lys32Gln)
c.150A>C
n.691A>C
15g.89333263C>ACA492289923POLG,POLGARFc.492G>T (p.Pro164=)
c.547G>T (p.Glu183Ter)
c.93G>T (p.Pro31=)
c.149G>T
n.690G>T
15g.89333263C>GCA492289921POLG,POLGARFc.492G>C (p.Pro164=)
c.547G>C (p.Glu183Gln)
c.93G>C (p.Pro31=)
c.149G>C
n.690G>C
 gnomAD v4
15g.89333263C>TCA492289922POLG,POLGARFc.492G>A (p.Pro164=)
c.547G>A (p.Glu183Lys)
c.93G>A (p.Pro31=)
c.149G>A
n.690G>A
 gnomAD v4
15g.89333264G>ACA393771307POLG,POLGARFc.491C>T (p.Pro164Leu)
c.546C>T (p.Pro182=)
c.92C>T (p.Pro31Leu)
c.148C>T
n.689C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333264G>CCA393771309POLG,POLGARFc.491C>G (p.Pro164Arg)
c.546C>G (p.Pro182=)
c.92C>G (p.Pro31Arg)
c.148C>G
n.689C>G
15g.89333264G=CA2194571917POLG,POLGARFc.491C= (p.Pro164=)
c.546C= (p.Pro182=)
c.92C= (p.Pro31=)
c.148C=
n.689C=
15g.89333264G>TCA393771320POLG,POLGARFc.491C>A (p.Pro164Gln)
c.546C>A (p.Pro182=)
c.92C>A (p.Pro31Gln)
c.148C>A
n.689C>A
15g.89333268delCA2630256932POLG,POLGARFc.491del (p.Pro164ArgfsTer?)
c.546del (p.Glu183LysfsTer?)
c.92del (p.Pro31ArgfsTer?)
c.148del
n.689del
 gnomAD v4
15g.89333265G>ACA393771326POLG,POLGARFc.490C>T (p.Pro164Ser)
c.545C>T (p.Pro182Leu)
c.91C>T (p.Pro31Ser)
c.147C>T
n.688C>T
 gnomAD v4
15g.89333265G>CCA7725106POLG,POLGARFc.490C>G (p.Pro164Ala)
c.545C>G (p.Pro182Arg)
c.91C>G (p.Pro31Ala)
c.147C>G
n.688C>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333265G=CA2194571921POLG,POLGARFc.490C= (p.Pro164=)
c.545C= (p.Pro182=)
c.91C= (p.Pro31=)
c.147C=
n.688C=
15g.89333265G>TCA393771324POLG,POLGARFc.490C>A (p.Pro164Thr)
c.545C>A (p.Pro182His)
c.91C>A (p.Pro31Thr)
c.147C>A
n.688C>A
 ClinVar gnomAD v4
15g.89333266G>ACA16607920POLG,POLGARFc.489C>T (p.Pro163=)
c.544C>T (p.Pro182Ser)
c.90C>T (p.Pro30=)
c.146C>T
n.687C>T
 ClinVar dbSNP
15g.89333266G>CCA492289925POLG,POLGARFc.489C>G (p.Pro163=)
c.544C>G (p.Pro182Ala)
c.90C>G (p.Pro30=)
c.146C>G
n.687C>G
15g.89333266G=CA2194571931POLG,POLGARFc.489C= (p.Pro163=)
c.544C= (p.Pro182=)
c.90C= (p.Pro30=)
c.146C=
n.687C=
15g.89333266G>TCA492289926POLG,POLGARFc.489C>A (p.Pro163=)
c.544C>A (p.Pro182Thr)
c.90C>A (p.Pro30=)
c.146C>A
n.687C>A
 gnomAD v4
15g.89333267G>ACA316802POLG,POLGARFc.488C>T (p.Pro163Leu)
c.543C>T (p.Ala181=)
c.89C>T (p.Pro30Leu)
c.145C>T
n.686C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333267G>CCA393771333POLG,POLGARFc.488C>G (p.Pro163Arg)
c.543C>G (p.Ala181=)
c.89C>G (p.Pro30Arg)
c.145C>G
n.686C>G
15g.89333267G=CA2194571942POLG,POLGARFc.488C= (p.Pro163=)
c.543C= (p.Ala181=)
c.89C= (p.Pro30=)
c.145C=
n.686C=
15g.89333267G>TCA393771339POLG,POLGARFc.488C>A (p.Pro163His)
c.543C>A (p.Ala181=)
c.89C>A (p.Pro30His)
c.145C>A
n.686C>A
15g.89333268G>ACA7725107POLG,POLGARFc.487C>T (p.Pro163Ser)
c.542C>T (p.Ala181Val)
c.88C>T (p.Pro30Ser)
c.144C>T
n.685C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333268G>CCA393771348POLG,POLGARFc.487C>G (p.Pro163Ala)
c.542C>G (p.Ala181Gly)
c.88C>G (p.Pro30Ala)
c.144C>G
n.685C>G
15g.89333268G=CA2194571950POLG,POLGARFc.487C= (p.Pro163=)
c.542C= (p.Ala181=)
c.88C= (p.Pro30=)
c.144C=
n.685C=
15g.89333268G>TCA393771350POLG,POLGARFc.487C>A (p.Pro163Thr)
c.542C>A (p.Ala181Asp)
c.88C>A (p.Pro30Thr)
c.144C>A
n.685C>A
 gnomAD v4
15g.89333268_89333269insGCCA2194571968POLG,POLGARFc.486_487insGC (p.Pro163AlafsTer?)
c.541_542insGC (p.Ala181GlyfsTer?)
c.87_88insGC (p.Pro30AlafsTer?)
c.143_144insGC
n.684_685insGC
 dbSNP
15g.89333269C>ACA492289930POLG,POLGARFc.486G>T (p.Leu162=)
c.541G>T (p.Ala181Ser)
c.87G>T (p.Leu29=)
c.143G>T
n.684G>T
 gnomAD v4
15g.89333269C>GCA492289929POLG,POLGARFc.486G>C (p.Leu162=)
c.541G>C (p.Ala181Pro)
c.87G>C (p.Leu29=)
c.143G>C
n.684G>C
15g.89333269C>TCA492289931POLG,POLGARFc.486G>A (p.Leu162=)
c.541G>A (p.Ala181Thr)
c.87G>A (p.Leu29=)
c.143G>A
n.684G>A
 ClinVar gnomAD v4
15g.89333270A>CCA393771358POLG,POLGARFc.485T>G (p.Leu162Arg)
c.540T>G (p.Ala180=)
c.86T>G (p.Leu29Arg)
c.142T>G
n.683T>G
15g.89333270A>GCA393771353POLG,POLGARFc.485T>C (p.Leu162Pro)
c.540T>C (p.Ala180=)
c.86T>C (p.Leu29Pro)
c.142T>C
n.683T>C
15g.89333270A>TCA393771355POLG,POLGARFc.485T>A (p.Leu162Gln)
c.540T>A (p.Ala180=)
c.86T>A (p.Leu29Gln)
c.142T>A
n.683T>A
15g.89333271G>ACA7725108POLG,POLGARFc.484C>T (p.Leu162=)
c.539C>T (p.Ala180Val)
c.85C>T (p.Leu29=)
c.141C>T
n.682C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333271G>CCA393771362POLG,POLGARFc.484C>G (p.Leu162Val)
c.539C>G (p.Ala180Gly)
c.85C>G (p.Leu29Val)
c.141C>G
n.682C>G
 ClinVar dbSNP
15g.89333271G=CA2194571974POLG,POLGARFc.484C= (p.Leu162=)
c.539C= (p.Ala180=)
c.85C= (p.Leu29=)
c.141C=
n.682C=
15g.89333271G>TCA393771363POLG,POLGARFc.484C>A (p.Leu162Met)
c.539C>A (p.Ala180Asp)
c.85C>A (p.Leu29Met)
c.141C>A
n.682C>A
15g.89333272C>ACA393771364POLG,POLGARFc.483G>T (p.Gln161His)
c.538G>T (p.Ala180Ser)
c.84G>T (p.Gln28His)
c.140G>T
n.681G>T
 gnomAD v4
15g.89333272C>GCA393771365POLG,POLGARFc.483G>C (p.Gln161His)
c.538G>C (p.Ala180Pro)
c.84G>C (p.Gln28His)
c.140G>C
n.681G>C
15g.89333272C>TCA492289932POLG,POLGARFc.483G>A (p.Gln161=)
c.538G>A (p.Ala180Thr)
c.84G>A (p.Gln28=)
c.140G>A
n.681G>A
 gnomAD v4
15g.89333273T>ACA393771367POLG,POLGARFc.482A>T (p.Gln161Leu)
c.537A>T (p.Pro179=)
c.83A>T (p.Gln28Leu)
c.139A>T
n.680A>T
15g.89333273T>CCA393771372POLG,POLGARFc.482A>G (p.Gln161Arg)
c.537A>G (p.Pro179=)
c.83A>G (p.Gln28Arg)
c.139A>G
n.680A>G
 ClinVar dbSNP gnomAD v4
15g.89333273T>GCA393771368POLG,POLGARFc.482A>C (p.Gln161Pro)
c.537A>C (p.Pro179=)
c.83A>C (p.Gln28Pro)
c.139A>C
n.680A>C
15g.89333274G>ACA393771375POLG,POLGARFc.481C>T (p.Gln161Ter)
c.536C>T (p.Pro179Leu)
c.82C>T (p.Gln28Ter)
c.138C>T
n.679C>T
 dbSNP gnomAD v2 gnomAD v4
15g.89333274G>CCA393771377POLG,POLGARFc.481C>G (p.Gln161Glu)
c.536C>G (p.Pro179Arg)
c.82C>G (p.Gln28Glu)
c.138C>G
n.679C>G
15g.89333274G=CA2194571989POLG,POLGARFc.481C= (p.Gln161=)
c.536C= (p.Pro179=)
c.82C= (p.Gln28=)
c.138C=
n.679C=
15g.89333274G>TCA393771379POLG,POLGARFc.481C>A (p.Gln161Lys)
c.536C>A (p.Pro179Gln)
c.82C>A (p.Gln28Lys)
c.138C>A
n.679C>A
15g.89333275G>ACA492289934POLG,POLGARFc.480C>T (p.Ala160=)
c.535C>T (p.Pro179Ser)
c.81C>T (p.Ala27=)
c.137C>T
n.678C>T
 dbSNP
15g.89333275G>CCA492289935POLG,POLGARFc.480C>G (p.Ala160=)
c.535C>G (p.Pro179Ala)
c.81C>G (p.Ala27=)
c.137C>G
n.678C>G
15g.89333275G=CA2194572000POLG,POLGARFc.480C= (p.Ala160=)
c.535C= (p.Pro179=)
c.81C= (p.Ala27=)
c.137C=
n.678C=
15g.89333275G>TCA492289936POLG,POLGARFc.480C>A (p.Ala160=)
c.535C>A (p.Pro179Thr)
c.81C>A (p.Ala27=)
c.137C>A
n.678C>A
 gnomAD v4
15g.89333276G>ACA393771382POLG,POLGARFc.479C>T (p.Ala160Val)
c.534C>T (p.Gly178=)
c.80C>T (p.Ala27Val)
c.136C>T
n.677C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333276G>CCA393771386POLG,POLGARFc.479C>G (p.Ala160Gly)
c.534C>G (p.Gly178=)
c.80C>G (p.Ala27Gly)
c.136C>G
n.677C>G
15g.89333276G=CA2194572009POLG,POLGARFc.479C= (p.Ala160=)
c.534C= (p.Gly178=)
c.80C= (p.Ala27=)
c.136C=
n.677C=
15g.89333276G>TCA393771388POLG,POLGARFc.479C>A (p.Ala160Asp)
c.534C>A (p.Gly178=)
c.80C>A (p.Ala27Asp)
c.136C>A
n.677C>A
 gnomAD v4
15g.89333277C>ACA393771391POLG,POLGARFc.478G>T (p.Ala160Ser)
c.533G>T (p.Gly178Val)
c.79G>T (p.Ala27Ser)
c.135G>T
n.676G>T
 gnomAD v4
15g.89333277C>GCA393771392POLG,POLGARFc.478G>C (p.Ala160Pro)
c.533G>C (p.Gly178Ala)
c.79G>C (p.Ala27Pro)
c.135G>C
n.676G>C
15g.89333277C>TCA393771395POLG,POLGARFc.478G>A (p.Ala160Thr)
c.533G>A (p.Gly178Asp)
c.79G>A (p.Ala27Thr)
c.135G>A
n.676G>A
 gnomAD v4
15g.89333278C>ACA393771397POLG,POLGARFc.477G>T (p.Gln159His)
c.532G>T (p.Gly178Cys)
c.78G>T (p.Gln26His)
c.134G>T
n.675G>T
 dbSNP
15g.89333278C=CA2194572026POLG,POLGARFc.477G= (p.Gln159=)
c.532G= (p.Gly178=)
c.78G= (p.Gln26=)
c.134G=
n.675G=
15g.89333278C>GCA393771400POLG,POLGARFc.477G>C (p.Gln159His)
c.532G>C (p.Gly178Arg)
c.78G>C (p.Gln26His)
c.134G>C
n.675G>C
 dbSNP
15g.89333278C>TCA492289940POLG,POLGARFc.477G>A (p.Gln159=)
c.532G>A (p.Gly178Ser)
c.78G>A (p.Gln26=)
c.134G>A
n.675G>A
 gnomAD v4
15g.89333279T>ACA393771411POLG,POLGARFc.476A>T (p.Gln159Leu)
c.531A>T (p.Ala177=)
c.77A>T (p.Gln26Leu)
c.133A>T
n.674A>T
15g.89333279T>CCA393771408POLG,POLGARFc.476A>G (p.Gln159Arg)
c.531A>G (p.Ala177=)
c.77A>G (p.Gln26Arg)
c.133A>G
n.674A>G
 gnomAD v4
15g.89333279T>GCA393771404POLG,POLGARFc.476A>C (p.Gln159Pro)
c.531A>C (p.Ala177=)
c.77A>C (p.Gln26Pro)
c.133A>C
n.674A>C
15g.89333280G>ACA393771414POLG,POLGARFc.475C>T (p.Gln159Ter)
c.530C>T (p.Ala177Val)
c.76C>T (p.Gln26Ter)
c.132C>T
n.673C>T
 gnomAD v4
15g.89333280G>CCA393771419POLG,POLGARFc.475C>G (p.Gln159Glu)
c.530C>G (p.Ala177Gly)
c.76C>G (p.Gln26Glu)
c.132C>G
n.673C>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333280G=CA2194572034POLG,POLGARFc.475C= (p.Gln159=)
c.530C= (p.Ala177=)
c.76C= (p.Gln26=)
c.132C=
n.673C=
15g.89333280G>TCA393771417POLG,POLGARFc.475C>A (p.Gln159Lys)
c.530C>A (p.Ala177Glu)
c.76C>A (p.Gln26Lys)
c.132C>A
n.673C>A
 gnomAD v4
15g.89333281C>ACA393771423POLG,POLGARFc.474G>T (p.Leu158Phe)
c.529G>T (p.Ala177Ser)
c.75G>T (p.Leu25Phe)
c.131G>T
n.672G>T
 gnomAD v4
15g.89333281C>GCA393771426POLG,POLGARFc.474G>C (p.Leu158Phe)
c.529G>C (p.Ala177Pro)
c.75G>C (p.Leu25Phe)
c.131G>C
n.672G>C
15g.89333281C>TCA492289944POLG,POLGARFc.474G>A (p.Leu158=)
c.529G>A (p.Ala177Thr)
c.75G>A (p.Leu25=)
c.131G>A
n.672G>A
 gnomAD v4
15g.89333282A>CCA393771434POLG,POLGARFc.473T>G (p.Leu158Trp)
c.528T>G (p.Val176=)
c.74T>G (p.Leu25Trp)
c.130T>G
n.671T>G
15g.89333282A>GCA393771439POLG,POLGARFc.473T>C (p.Leu158Ser)
c.528T>C (p.Val176=)
c.74T>C (p.Leu25Ser)
c.130T>C
n.671T>C
15g.89333282A>TCA393771436POLG,POLGARFc.473T>A (p.Leu158Ter)
c.528T>A (p.Val176=)
c.74T>A (p.Leu25Ter)
c.130T>A
n.671T>A
15g.89333283A=CA2194572038POLG,POLGARFc.472T= (p.Leu158=)
c.527T= (p.Val176=)
c.73T= (p.Leu25=)
c.129T=
n.670T=
15g.89333283A>CCA393771442POLG,POLGARFc.472T>G (p.Leu158Val)
c.527T>G (p.Val176Gly)
c.73T>G (p.Leu25Val)
c.129T>G
n.670T>G
 gnomAD v4
15g.89333283A>GCA492289945POLG,POLGARFc.472T>C (p.Leu158=)
c.527T>C (p.Val176Ala)
c.73T>C (p.Leu25=)
c.129T>C
n.670T>C
 ClinVar dbSNP
15g.89333283A>TCA393771444POLG,POLGARFc.472T>A (p.Leu158Met)
c.527T>A (p.Val176Asp)
c.73T>A (p.Leu25Met)
c.129T>A
n.670T>A
15g.89333284C>ACA7725109POLG,POLGARFc.471G>T (p.Leu157=)
c.526G>T (p.Val176Phe)
c.72G>T (p.Leu24=)
c.128G>T
n.669G>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333284C=CA2194572051POLG,POLGARFc.471G= (p.Leu157=)
c.526G= (p.Val176=)
c.72G= (p.Leu24=)
c.128G=
n.669G=
15g.89333284C>GCA492289946POLG,POLGARFc.471G>C (p.Leu157=)
c.526G>C (p.Val176Leu)
c.72G>C (p.Leu24=)
c.128G>C
n.669G>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333284C>TCA492289947POLG,POLGARFc.471G>A (p.Leu157=)
c.526G>A (p.Val176Ile)
c.72G>A (p.Leu24=)
c.128G>A
n.669G>A
 gnomAD v4

Number of alleles fetched