Chr Mutation (hg38) CAid Gene Transcript Linkouts
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.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.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.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
15g.89333285A=CA2194572057POLG,POLGARFc.470T= (p.Leu157=)
c.525T= (p.Ala175=)
c.71T= (p.Leu24=)
c.127T=
n.668T=
15g.89333285A>CCA393771448POLG,POLGARFc.470T>G (p.Leu157Arg)
c.525T>G (p.Ala175=)
c.71T>G (p.Leu24Arg)
c.127T>G
n.668T>G
15g.89333285A>GCA10602290POLG,POLGARFc.470T>C (p.Leu157Pro)
c.525T>C (p.Ala175=)
c.71T>C (p.Leu24Pro)
c.127T>C
n.668T>C
 ClinVar dbSNP
15g.89333285A>TCA393771459POLG,POLGARFc.470T>A (p.Leu157Gln)
c.525T>A (p.Ala175=)
c.71T>A (p.Leu24Gln)
c.127T>A
n.668T>A
15g.89333286G>ACA492289951POLG,POLGARFc.469C>T (p.Leu157=)
c.524C>T (p.Ala175Val)
c.70C>T (p.Leu24=)
c.126C>T
n.667C>T
 gnomAD v4
15g.89333286G>CCA393771462POLG,POLGARFc.469C>G (p.Leu157Val)
c.524C>G (p.Ala175Gly)
c.70C>G (p.Leu24Val)
c.126C>G
n.667C>G
15g.89333286G>TCA393771465POLG,POLGARFc.469C>A (p.Leu157Met)
c.524C>A (p.Ala175Asp)
c.70C>A (p.Leu24Met)
c.126C>A
n.667C>A
 gnomAD v4
15g.89333287C>ACA393771481POLG,POLGARFc.468G>T (p.Leu156Phe)
c.523G>T (p.Ala175Ser)
c.69G>T (p.Leu23Phe)
c.125G>T
n.666G>T
15g.89333287C=CA2194572060POLG,POLGARFc.468G= (p.Leu156=)
c.523G= (p.Ala175=)
c.69G= (p.Leu23=)
c.125G=
n.666G=
15g.89333287C>GCA393771485POLG,POLGARFc.468G>C (p.Leu156Phe)
c.523G>C (p.Ala175Pro)
c.69G>C (p.Leu23Phe)
c.125G>C
n.666G>C
 ClinVar
15g.89333287C>TCA492289952POLG,POLGARFc.468G>A (p.Leu156=)
c.523G>A (p.Ala175Thr)
c.69G>A (p.Leu23=)
c.125G>A
n.666G>A
 ClinVar dbSNP gnomAD v3 gnomAD v4
15g.89333288A>CCA393771490POLG,POLGARFc.467T>G (p.Leu156Trp)
c.522T>G (p.Leu174=)
c.68T>G (p.Leu23Trp)
c.124T>G
n.665T>G
15g.89333288A>GCA393771495POLG,POLGARFc.467T>C (p.Leu156Ser)
c.522T>C (p.Leu174=)
c.68T>C (p.Leu23Ser)
c.124T>C
n.665T>C
 ClinVar
15g.89333288A>TCA393771492POLG,POLGARFc.467T>A (p.Leu156Ter)
c.522T>A (p.Leu174=)
c.68T>A (p.Leu23Ter)
c.124T>A
n.665T>A
15g.89333289A>CCA393771499POLG,POLGARFc.466T>G (p.Leu156Val)
c.521T>G (p.Leu174Arg)
c.67T>G (p.Leu23Val)
c.123T>G
n.664T>G
15g.89333289A>GCA492289953POLG,POLGARFc.466T>C (p.Leu156=)
c.521T>C (p.Leu174Pro)
c.67T>C (p.Leu23=)
c.123T>C
n.664T>C
 gnomAD v4
15g.89333289A>TCA393771503POLG,POLGARFc.466T>A (p.Leu156Met)
c.521T>A (p.Leu174His)
c.67T>A (p.Leu23Met)
c.123T>A
n.664T>A
15g.89333290G>ACA492289956POLG,POLGARFc.465C>T (p.Asn155=)
c.520C>T (p.Leu174Phe)
c.66C>T (p.Asn22=)
c.122C>T
n.663C>T
15g.89333290G>CCA393771511POLG,POLGARFc.465C>G (p.Asn155Lys)
c.520C>G (p.Leu174Val)
c.66C>G (p.Asn22Lys)
c.122C>G
n.663C>G
 gnomAD v4
15g.89333290G>TCA393771514POLG,POLGARFc.465C>A (p.Asn155Lys)
c.520C>A (p.Leu174Ile)
c.66C>A (p.Asn22Lys)
c.122C>A
n.663C>A
15g.89333291T>ACA393771515POLG,POLGARFc.464A>T (p.Asn155Ile)
c.519A>T (p.Gln173His)
c.65A>T (p.Asn22Ile)
c.121A>T
n.662A>T
15g.89333291T>CCA393771517POLG,POLGARFc.464A>G (p.Asn155Ser)
c.519A>G (p.Gln173=)
c.65A>G (p.Asn22Ser)
c.121A>G
n.662A>G
15g.89333291T>GCA393771516POLG,POLGARFc.464A>C (p.Asn155Thr)
c.519A>C (p.Gln173His)
c.65A>C (p.Asn22Thr)
c.121A>C
n.662A>C
15g.89333292T>ACA393771521POLG,POLGARFc.463A>T (p.Asn155Tyr)
c.518A>T (p.Gln173Leu)
c.64A>T (p.Asn22Tyr)
c.120A>T
n.661A>T
15g.89333292T>CCA393771522POLG,POLGARFc.463A>G (p.Asn155Asp)
c.518A>G (p.Gln173Arg)
c.64A>G (p.Asn22Asp)
c.120A>G
n.661A>G
15g.89333292T>GCA393771525POLG,POLGARFc.463A>C (p.Asn155His)
c.518A>C (p.Gln173Pro)
c.64A>C (p.Asn22His)
c.120A>C
n.661A>C
15g.89333293G>ACA274565913POLG,POLGARFc.462C>T (p.Ala154=)
c.517C>T (p.Gln173Ter)
c.63C>T (p.Ala21=)
c.119C>T
n.660C>T
 dbSNP gnomAD v4
15g.89333293G>CCA492289959POLG,POLGARFc.462C>G (p.Ala154=)
c.517C>G (p.Gln173Glu)
c.63C>G (p.Ala21=)
c.119C>G
n.660C>G
15g.89333293G=CA2194572063POLG,POLGARFc.462C= (p.Ala154=)
c.517C= (p.Gln173=)
c.63C= (p.Ala21=)
c.119C=
n.660C=
15g.89333293G>TCA492289958POLG,POLGARFc.462C>A (p.Ala154=)
c.517C>A (p.Gln173Lys)
c.63C>A (p.Ala21=)
c.119C>A
n.660C>A
 gnomAD v4
15g.89333294G>ACA393771530POLG,POLGARFc.461C>T (p.Ala154Val)
c.516C>T (p.Gly172=)
c.62C>T (p.Ala21Val)
c.118C>T
n.659C>T
 gnomAD v4
15g.89333294G>CCA393771534POLG,POLGARFc.461C>G (p.Ala154Gly)
c.516C>G (p.Gly172=)
c.62C>G (p.Ala21Gly)
c.118C>G
n.659C>G
15g.89333294G>TCA393771537POLG,POLGARFc.461C>A (p.Ala154Asp)
c.516C>A (p.Gly172=)
c.62C>A (p.Ala21Asp)
c.118C>A
n.659C>A
 gnomAD v4
15g.89333295C>ACA393771546POLG,POLGARFc.460G>T (p.Ala154Ser)
c.515G>T (p.Gly172Val)
c.61G>T (p.Ala21Ser)
c.117G>T
n.658G>T
 gnomAD v4
15g.89333295C=CA2194572070POLG,POLGARFc.460G= (p.Ala154=)
c.515G= (p.Gly172=)
c.61G= (p.Ala21=)
c.117G=
n.658G=
15g.89333295C>GCA393771549POLG,POLGARFc.460G>C (p.Ala154Pro)
c.515G>C (p.Gly172Ala)
c.61G>C (p.Ala21Pro)
c.117G>C
n.658G>C
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333295C>TCA316800POLG,POLGARFc.460G>A (p.Ala154Thr)
c.515G>A (p.Gly172Asp)
c.61G>A (p.Ala21Thr)
c.117G>A
n.658G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333296C>ACA492289963POLG,POLGARFc.459G>T (p.Ala153=)
c.514G>T (p.Gly172Cys)
c.60G>T (p.Ala20=)
c.116G>T
n.657G>T
 gnomAD v4
15g.89333296C>GCA492289964POLG,POLGARFc.459G>C (p.Ala153=)
c.514G>C (p.Gly172Arg)
c.60G>C (p.Ala20=)
c.116G>C
n.657G>C
 gnomAD v4
15g.89333296C>TCA492289965POLG,POLGARFc.459G>A (p.Ala153=)
c.514G>A (p.Gly172Ser)
c.60G>A (p.Ala20=)
c.116G>A
n.657G>A
 ClinVar gnomAD v4
15g.89333297G>ACA393771559POLG,POLGARFc.458C>T (p.Ala153Val)
c.513C>T (p.Gly171=)
c.59C>T (p.Ala20Val)
c.115C>T
n.656C>T
 ClinVar gnomAD v4
15g.89333297G>CCA393771563POLG,POLGARFc.458C>G (p.Ala153Gly)
c.513C>G (p.Gly171=)
c.59C>G (p.Ala20Gly)
c.115C>G
n.656C>G
 gnomAD v4
15g.89333297G>TCA393771568POLG,POLGARFc.458C>A (p.Ala153Glu)
c.513C>A (p.Gly171=)
c.59C>A (p.Ala20Glu)
c.115C>A
n.656C>A
 gnomAD v4
15g.89333298C>ACA393771579POLG,POLGARFc.457G>T (p.Ala153Ser)
c.512G>T (p.Gly171Val)
c.58G>T (p.Ala20Ser)
c.114G>T
n.655G>T
 gnomAD v4
15g.89333298C>GCA393771572POLG,POLGARFc.457G>C (p.Ala153Pro)
c.512G>C (p.Gly171Ala)
c.58G>C (p.Ala20Pro)
c.114G>C
n.655G>C
15g.89333298C>TCA393771576POLG,POLGARFc.457G>A (p.Ala153Thr)
c.512G>A (p.Gly171Asp)
c.58G>A (p.Ala20Thr)
c.114G>A
n.655G>A
15g.89333299C>ACA393771582POLG,POLGARFc.456G>T (p.Glu152Asp)
c.511G>T (p.Gly171Cys)
c.57G>T (p.Glu19Asp)
c.113G>T
n.654G>T
 gnomAD v4
15g.89333299C>GCA393771587POLG,POLGARFc.456G>C (p.Glu152Asp)
c.511G>C (p.Gly171Arg)
c.57G>C (p.Glu19Asp)
c.113G>C
n.654G>C
15g.89333299C>TCA492289966POLG,POLGARFc.456G>A (p.Glu152=)
c.511G>A (p.Gly171Ser)
c.57G>A (p.Glu19=)
c.113G>A
n.654G>A
 ClinVar gnomAD v4
15g.89333300T>ACA393771592POLG,POLGARFc.455A>T (p.Glu152Val)
c.510A>T (p.Gly170=)
c.56A>T (p.Glu19Val)
c.112A>T
n.653A>T
15g.89333300T>CCA393771593POLG,POLGARFc.455A>G (p.Glu152Gly)
c.510A>G (p.Gly170=)
c.56A>G (p.Glu19Gly)
c.112A>G
n.653A>G
 gnomAD v4
15g.89333300T>GCA393771595POLG,POLGARFc.455A>C (p.Glu152Ala)
c.510A>C (p.Gly170=)
c.56A>C (p.Glu19Ala)
c.112A>C
n.653A>C
15g.89333301C>ACA393771613POLG,POLGARFc.454G>T (p.Glu152Ter)
c.509G>T (p.Gly170Val)
c.55G>T (p.Glu19Ter)
c.111G>T
n.652G>T
 gnomAD v4
15g.89333301C>GCA393771618POLG,POLGARFc.454G>C (p.Glu152Gln)
c.509G>C (p.Gly170Ala)
c.55G>C (p.Glu19Gln)
c.111G>C
n.652G>C
15g.89333301C>TCA393771621POLG,POLGARFc.454G>A (p.Glu152Lys)
c.509G>A (p.Gly170Glu)
c.55G>A (p.Glu19Lys)
c.111G>A
n.652G>A
 gnomAD v4
15g.89333302C>ACA492289968POLG,POLGARFc.453G>T (p.Leu151=)
c.508G>T (p.Gly170Ter)
c.54G>T (p.Leu18=)
c.110G>T
n.651G>T
 gnomAD v4
15g.89333302C=CA2194572075POLG,POLGARFc.453G= (p.Leu151=)
c.508G= (p.Gly170=)
c.54G= (p.Leu18=)
c.110G=
n.651G=
15g.89333302C>GCA492289969POLG,POLGARFc.453G>C (p.Leu151=)
c.508G>C (p.Gly170Arg)
c.54G>C (p.Leu18=)
c.110G>C
n.651G>C
15g.89333302C>TCA7725110POLG,POLGARFc.453G>A (p.Leu151=)
c.508G>A (p.Gly170Arg)
c.54G>A (p.Leu18=)
c.110G>A
n.651G>A
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333303A=CA2194572085POLG,POLGARFc.452T= (p.Leu151=)
c.507T= (p.Pro169=)
c.53T= (p.Leu18=)
c.109T=
n.650T=
15g.89333303A>CCA393771630POLG,POLGARFc.452T>G (p.Leu151Arg)
c.507T>G (p.Pro169=)
c.53T>G (p.Leu18Arg)
c.109T>G
n.650T>G
 ClinVar
15g.89333303A>GCA7725111POLG,POLGARFc.452T>C (p.Leu151Pro)
c.507T>C (p.Pro169=)
c.53T>C (p.Leu18Pro)
c.109T>C
n.650T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333303A>TCA393771635POLG,POLGARFc.452T>A (p.Leu151Gln)
c.507T>A (p.Pro169=)
c.53T>A (p.Leu18Gln)
c.109T>A
n.650T>A
15g.89333304G>ACA492289970POLG,POLGARFc.451C>T (p.Leu151=)
c.506C>T (p.Pro169Leu)
c.52C>T (p.Leu18=)
c.108C>T
n.649C>T
 ClinVar
15g.89333304G>CCA7725112POLG,POLGARFc.451C>G (p.Leu151Val)
c.506C>G (p.Pro169Arg)
c.52C>G (p.Leu18Val)
c.108C>G
n.649C>G
 dbSNP ExAC gnomAD v2 gnomAD v4
15g.89333304G=CA2194572088POLG,POLGARFc.451C= (p.Leu151=)
c.506C= (p.Pro169=)
c.52C= (p.Leu18=)
c.108C=
n.649C=
15g.89333304G>TCA393771639POLG,POLGARFc.451C>A (p.Leu151Met)
c.506C>A (p.Pro169His)
c.52C>A (p.Leu18Met)
c.108C>A
n.649C>A
15g.89333305G>ACA492289973POLG,POLGARFc.450C>T (p.Tyr150=)
c.505C>T (p.Pro169Ser)
c.51C>T (p.Tyr17=)
c.107C>T
n.648C>T
 ClinVar
15g.89333305G>CCA393771642POLG,POLGARFc.450C>G (p.Tyr150Ter)
c.505C>G (p.Pro169Ala)
c.51C>G (p.Tyr17Ter)
c.107C>G
n.648C>G
15g.89333305G>TCA393771648POLG,POLGARFc.450C>A (p.Tyr150Ter)
c.505C>A (p.Pro169Thr)
c.51C>A (p.Tyr17Ter)
c.107C>A
n.648C>A
 gnomAD v4
15g.89333306T>ACA393771651POLG,POLGARFc.449A>T (p.Tyr150Phe)
c.504A>T (p.Leu168=)
c.50A>T (p.Tyr17Phe)
c.106A>T
n.647A>T
 ClinVar gnomAD v4
15g.89333306T>CCA393771654POLG,POLGARFc.449A>G (p.Tyr150Cys)
c.504A>G (p.Leu168=)
c.50A>G (p.Tyr17Cys)
c.106A>G
n.647A>G
 ClinVar dbSNP gnomAD v4
15g.89333306T>GCA393771656POLG,POLGARFc.449A>C (p.Tyr150Ser)
c.504A>C (p.Leu168=)
c.50A>C (p.Tyr17Ser)
c.106A>C
n.647A>C
15g.89333306T=CA2194572092POLG,POLGARFc.449A= (p.Tyr150=)
c.504A= (p.Leu168=)
c.50A= (p.Tyr17=)
c.106A=
n.647A=
15g.89333307A>CCA393771660POLG,POLGARFc.448T>G (p.Tyr150Asp)
c.503T>G (p.Leu168Arg)
c.49T>G (p.Tyr17Asp)
c.105T>G
n.646T>G
15g.89333307A>GCA393771662POLG,POLGARFc.448T>C (p.Tyr150His)
c.503T>C (p.Leu168Pro)
c.49T>C (p.Tyr17His)
c.105T>C
n.646T>C
15g.89333307A>TCA393771670POLG,POLGARFc.448T>A (p.Tyr150Asn)
c.503T>A (p.Leu168Gln)
c.49T>A (p.Tyr17Asn)
c.105T>A
n.646T>A
15g.89333308G>ACA492289975POLG,POLGARFc.447C>T (p.Pro149=)
c.502C>T (p.Leu168=)
c.48C>T (p.Pro16=)
c.104C>T
n.645C>T
 gnomAD v4
15g.89333308G>CCA492289976POLG,POLGARFc.447C>G (p.Pro149=)
c.502C>G (p.Leu168Val)
c.48C>G (p.Pro16=)
c.104C>G
n.645C>G
 gnomAD v4
15g.89333308G>TCA492289977POLG,POLGARFc.447C>A (p.Pro149=)
c.502C>A (p.Leu168Ile)
c.48C>A (p.Pro16=)
c.104C>A
n.645C>A
 gnomAD v4
15g.89333309G>ACA393771672POLG,POLGARFc.446C>T (p.Pro149Leu)
c.501C>T (p.Ala167=)
c.47C>T (p.Pro16Leu)
c.103C>T
n.644C>T
15g.89333309G>CCA393771673POLG,POLGARFc.446C>G (p.Pro149Arg)
c.501C>G (p.Ala167=)
c.47C>G (p.Pro16Arg)
c.103C>G
n.644C>G
 gnomAD v4
15g.89333309G>TCA393771674POLG,POLGARFc.446C>A (p.Pro149His)
c.501C>A (p.Ala167=)
c.47C>A (p.Pro16His)
c.103C>A
n.644C>A
 gnomAD v4
15g.89333310G>ACA393771676POLG,POLGARFc.445C>T (p.Pro149Ser)
c.500C>T (p.Ala167Val)
c.46C>T (p.Pro16Ser)
c.102C>T
n.643C>T
 gnomAD v4
15g.89333310G>CCA393771677POLG,POLGARFc.445C>G (p.Pro149Ala)
c.500C>G (p.Ala167Gly)
c.46C>G (p.Pro16Ala)
c.102C>G
n.643C>G
15g.89333310G>TCA393771685POLG,POLGARFc.445C>A (p.Pro149Thr)
c.500C>A (p.Ala167Asp)
c.46C>A (p.Pro16Thr)
c.102C>A
n.643C>A
 gnomAD v4
15g.89333311C>ACA492289978POLG,POLGARFc.444G>T (p.Leu148=)
c.499G>T (p.Ala167Ser)
c.45G>T (p.Leu15=)
c.101G>T
n.642G>T
 ClinVar dbSNP gnomAD v4
15g.89333311C>GCA492289979POLG,POLGARFc.444G>C (p.Leu148=)
c.499G>C (p.Ala167Pro)
c.45G>C (p.Leu15=)
c.101G>C
n.642G>C
15g.89333311C>TCA492289980POLG,POLGARFc.444G>A (p.Leu148=)
c.499G>A (p.Ala167Thr)
c.45G>A (p.Leu15=)
c.101G>A
n.642G>A
 gnomAD v4
15g.89333312A=CA2194572095POLG,POLGARFc.443T= (p.Leu148=)
c.498T= (p.Pro166=)
c.44T= (p.Leu15=)
c.100T=
n.641T=
15g.89333312A>CCA393771694POLG,POLGARFc.443T>G (p.Leu148Arg)
c.498T>G (p.Pro166=)
c.44T>G (p.Leu15Arg)
c.100T>G
n.641T>G
15g.89333312A>GCA393771706POLG,POLGARFc.443T>C (p.Leu148Pro)
c.498T>C (p.Pro166=)
c.44T>C (p.Leu15Pro)
c.100T>C
n.641T>C
 gnomAD v4
15g.89333312A>TCA10602289POLG,POLGARFc.443T>A (p.Leu148Gln)
c.498T>A (p.Pro166=)
c.44T>A (p.Leu15Gln)
c.100T>A
n.641T>A
 dbSNP gnomAD v3 gnomAD v4
15g.89333313G>ACA492289981POLG,POLGARFc.442C>T (p.Leu148=)
c.497C>T (p.Pro166Leu)
c.43C>T (p.Leu15=)
c.99C>T
n.640C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333313G>CCA393771707POLG,POLGARFc.442C>G (p.Leu148Val)
c.497C>G (p.Pro166Arg)
c.43C>G (p.Leu15Val)
c.99C>G
n.640C>G
15g.89333313G=CA2194572097POLG,POLGARFc.442C= (p.Leu148=)
c.497C= (p.Pro166=)
c.43C= (p.Leu15=)
c.99C=
n.640C=
15g.89333313G>TCA393771716POLG,POLGARFc.442C>A (p.Leu148Met)
c.497C>A (p.Pro166His)
c.43C>A (p.Leu15Met)
c.99C>A
n.640C>A
 gnomAD v4
15g.89333314G>ACA492289982POLG,POLGARFc.441C>T (p.Ser147=)
c.496C>T (p.Pro166Ser)
c.42C>T (p.Ser14=)
c.98C>T
n.639C>T
 ClinVar dbSNP gnomAD v4
15g.89333314G>CCA393771721POLG,POLGARFc.441C>G (p.Ser147Arg)
c.496C>G (p.Pro166Ala)
c.42C>G (p.Ser14Arg)
c.98C>G
n.639C>G
15g.89333314G>TCA393771724POLG,POLGARFc.441C>A (p.Ser147Arg)
c.496C>A (p.Pro166Thr)
c.42C>A (p.Ser14Arg)
c.98C>A
n.639C>A
 gnomAD v4
15g.89333315C>ACA274565927POLG,POLGARFc.440G>T (p.Ser147Ile)
c.495G>T (p.Glu165Asp)
c.41G>T (p.Ser14Ile)
c.97G>T
n.638G>T
 dbSNP gnomAD v4
15g.89333315C=CA2194572098POLG,POLGARFc.440G= (p.Ser147=)
c.495G= (p.Glu165=)
c.41G= (p.Ser14=)
c.97G=
n.638G=
15g.89333315C>GCA393771732POLG,POLGARFc.440G>C (p.Ser147Thr)
c.495G>C (p.Glu165Asp)
c.41G>C (p.Ser14Thr)
c.97G>C
n.638G>C
15g.89333315C>TCA393771736POLG,POLGARFc.440G>A (p.Ser147Asn)
c.495G>A (p.Glu165=)
c.41G>A (p.Ser14Asn)
c.97G>A
n.638G>A
 dbSNP gnomAD v4
15g.89333316T>ACA393771740POLG,POLGARFc.439A>T (p.Ser147Cys)
c.494A>T (p.Glu165Val)
c.40A>T (p.Ser14Cys)
c.96A>T
n.637A>T
 ClinVar gnomAD v4
15g.89333316T>CCA7725113POLG,POLGARFc.439A>G (p.Ser147Gly)
c.494A>G (p.Glu165Gly)
c.40A>G (p.Ser14Gly)
c.96A>G
n.637A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333316T>GCA393771750POLG,POLGARFc.439A>C (p.Ser147Arg)
c.494A>C (p.Glu165Ala)
c.40A>C (p.Ser14Arg)
c.96A>C
n.637A>C
 gnomAD v4
15g.89333316T=CA2194572100POLG,POLGARFc.439A= (p.Ser147=)
c.494A= (p.Glu165=)
c.40A= (p.Ser14=)
c.96A=
n.637A=
15g.89333317C>ACA393771755POLG,POLGARFc.438G>T (p.Gln146His)
c.493G>T (p.Glu165Ter)
c.39G>T (p.Gln13His)
c.95G>T
n.636G>T
 gnomAD v4
15g.89333317C>GCA393771760POLG,POLGARFc.438G>C (p.Gln146His)
c.493G>C (p.Glu165Gln)
c.39G>C (p.Gln13His)
c.95G>C
n.636G>C
 ClinVar
15g.89333317C>TCA492289986POLG,POLGARFc.438G>A (p.Gln146=)
c.493G>A (p.Glu165Lys)
c.39G>A (p.Gln13=)
c.95G>A
n.636G>A
15g.89333318T>ACA393771764POLG,POLGARFc.437A>T (p.Gln146Leu)
c.492A>T (p.Ala164=)
c.38A>T (p.Gln13Leu)
c.94A>T
n.635A>T
15g.89333318T>CCA393771765POLG,POLGARFc.437A>G (p.Gln146Arg)
c.492A>G (p.Ala164=)
c.38A>G (p.Gln13Arg)
c.94A>G
n.635A>G
15g.89333318T>GCA393771768POLG,POLGARFc.437A>C (p.Gln146Pro)
c.492A>C (p.Ala164=)
c.38A>C (p.Gln13Pro)
c.94A>C
n.635A>C
15g.89333319G>ACA393771773POLG,POLGARFc.436C>T (p.Gln146Ter)
c.491C>T (p.Ala164Val)
c.37C>T (p.Gln13Ter)
c.93C>T
n.634C>T
 gnomAD v4
15g.89333319G>CCA393771782POLG,POLGARFc.436C>G (p.Gln146Glu)
c.491C>G (p.Ala164Gly)
c.37C>G (p.Gln13Glu)
c.93C>G
n.634C>G
15g.89333319G>TCA393771776POLG,POLGARFc.436C>A (p.Gln146Lys)
c.491C>A (p.Ala164Glu)
c.37C>A (p.Gln13Lys)
c.93C>A
n.634C>A
 gnomAD v4
15g.89333320C>ACA393771787POLG,POLGARFc.435G>T (p.Lys145Asn)
c.490G>T (p.Ala164Ser)
c.36G>T (p.Lys12Asn)
c.92G>T
n.633G>T
 gnomAD v4
15g.89333320C>GCA393771789POLG,POLGARFc.435G>C (p.Lys145Asn)
c.490G>C (p.Ala164Pro)
c.36G>C (p.Lys12Asn)
c.92G>C
n.633G>C
15g.89333320C>TCA492289989POLG,POLGARFc.435G>A (p.Lys145=)
c.490G>A (p.Ala164Thr)
c.36G>A (p.Lys12=)
c.92G>A
n.633G>A
 ClinVar dbSNP gnomAD v4
15g.89333321T>ACA393771792POLG,POLGARFc.434A>T (p.Lys145Met)
c.489A>T (p.Glu163Asp)
c.35A>T (p.Lys12Met)
c.91A>T
n.632A>T
15g.89333321T>CCA393771793POLG,POLGARFc.434A>G (p.Lys145Arg)
c.489A>G (p.Glu163=)
c.35A>G (p.Lys12Arg)
c.91A>G
n.632A>G
 ClinVar gnomAD v4
15g.89333321T>GCA393771794POLG,POLGARFc.434A>C (p.Lys145Thr)
c.489A>C (p.Glu163Asp)
c.35A>C (p.Lys12Thr)
c.91A>C
n.632A>C
15g.89333322T>ACA393771795POLG,POLGARFc.433A>T (p.Lys145Ter)
c.488A>T (p.Glu163Val)
c.34A>T (p.Lys12Ter)
c.90A>T
n.631A>T
15g.89333322T>CCA393771797POLG,POLGARFc.433A>G (p.Lys145Glu)
c.488A>G (p.Glu163Gly)
c.34A>G (p.Lys12Glu)
c.90A>G
n.631A>G
15g.89333322T>GCA393771801POLG,POLGARFc.433A>C (p.Lys145Gln)
c.488A>C (p.Glu163Ala)
c.34A>C (p.Lys12Gln)
c.90A>C
n.631A>C
15g.89333323C>ACA393771806POLG,POLGARFc.432G>T (p.Gln144His)
c.487G>T (p.Glu163Ter)
c.33G>T (p.Gln11His)
c.89G>T
n.630G>T
 gnomAD v4
15g.89333323C>GCA393771809POLG,POLGARFc.432G>C (p.Gln144His)
c.487G>C (p.Glu163Gln)
c.33G>C (p.Gln11His)
c.89G>C
n.630G>C
15g.89333323C>TCA492289990POLG,POLGARFc.432G>A (p.Gln144=)
c.487G>A (p.Glu163Lys)
c.33G>A (p.Gln11=)
c.89G>A
n.630G>A
15g.89333324T>ACA393771817POLG,POLGARFc.431A>T (p.Gln144Leu)
c.486A>T (p.Pro162=)
c.32A>T (p.Gln11Leu)
c.88A>T
n.629A>T
15g.89333324T>CCA10602288POLG,POLGARFc.431A>G (p.Gln144Arg)
c.486A>G (p.Pro162=)
c.32A>G (p.Gln11Arg)
c.88A>G
n.629A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333324T>GCA393771813POLG,POLGARFc.431A>C (p.Gln144Pro)
c.486A>C (p.Pro162=)
c.32A>C (p.Gln11Pro)
c.88A>C
n.629A>C
15g.89333324T=CA2194572106POLG,POLGARFc.431A= (p.Gln144=)
c.486A= (p.Pro162=)
c.32A= (p.Gln11=)
c.88A=
n.629A=
15g.89333325G>ACA393771821POLG,POLGARFc.430C>T (p.Gln144Ter)
c.485C>T (p.Pro162Leu)
c.31C>T (p.Gln11Ter)
c.87C>T
n.628C>T
15g.89333325G>CCA393771822POLG,POLGARFc.430C>G (p.Gln144Glu)
c.485C>G (p.Pro162Arg)
c.31C>G (p.Gln11Glu)
c.87C>G
n.628C>G
 ClinVar dbSNP gnomAD v4
15g.89333325G>TCA393771823POLG,POLGARFc.430C>A (p.Gln144Lys)
c.485C>A (p.Pro162Gln)
c.31C>A (p.Gln11Lys)
c.87C>A
n.628C>A
 gnomAD v4
15g.89333326G>ACA492289991POLG,POLGARFc.429C>T (p.Ala143=)
c.484C>T (p.Pro162Ser)
c.30C>T (p.Ala10=)
c.86C>T
n.627C>T
 gnomAD v4
15g.89333326G>CCA492289992POLG,POLGARFc.429C>G (p.Ala143=)
c.484C>G (p.Pro162Ala)
c.30C>G (p.Ala10=)
c.86C>G
n.627C>G
15g.89333326G>TCA492289993POLG,POLGARFc.429C>A (p.Ala143=)
c.484C>A (p.Pro162Thr)
c.30C>A (p.Ala10=)
c.86C>A
n.627C>A
 gnomAD v4
15g.89333327G>ACA316798POLG,POLGARFc.428C>T (p.Ala143Val)
c.483C>T (p.Gly161=)
c.29C>T (p.Ala10Val)
c.85C>T
n.626C>T
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
15g.89333327G>CCA393771827POLG,POLGARFc.428C>G (p.Ala143Gly)
c.483C>G (p.Gly161=)
c.29C>G (p.Ala10Gly)
c.85C>G
n.626C>G
15g.89333327G=CA2194572118POLG,POLGARFc.428C= (p.Ala143=)
c.483C= (p.Gly161=)
c.29C= (p.Ala10=)
c.85C=
n.626C=
15g.89333327G>TCA393771834POLG,POLGARFc.428C>A (p.Ala143Asp)
c.483C>A (p.Gly161=)
c.29C>A (p.Ala10Asp)
c.85C>A
n.626C>A
 gnomAD v4
15g.89333328C>ACA393771838POLG,POLGARFc.427G>T (p.Ala143Ser)
c.482G>T (p.Gly161Val)
c.28G>T (p.Ala10Ser)
c.84G>T
n.625G>T
 gnomAD v4
15g.89333328C=CA2194572123POLG,POLGARFc.427G= (p.Ala143=)
c.482G= (p.Gly161=)
c.28G= (p.Ala10=)
c.84G=
n.625G=
15g.89333328C>GCA393771841POLG,POLGARFc.427G>C (p.Ala143Pro)
c.482G>C (p.Gly161Ala)
c.28G>C (p.Ala10Pro)
c.84G>C
n.625G>C
15g.89333328C>TCA393771844POLG,POLGARFc.427G>A (p.Ala143Thr)
c.482G>A (p.Gly161Asp)
c.28G>A (p.Ala10Thr)
c.84G>A
n.625G>A
 dbSNP gnomAD v2 gnomAD v4
15g.89333329C>ACA492289994POLG,POLGARFc.426G>T (p.Leu142=)
c.481G>T (p.Gly161Cys)
c.27G>T (p.Leu9=)
c.83G>T
n.624G>T
 gnomAD v4
15g.89333329C>GCA492289996POLG,POLGARFc.426G>C (p.Leu142=)
c.481G>C (p.Gly161Arg)
c.27G>C (p.Leu9=)
c.83G>C
n.624G>C
 gnomAD v4
15g.89333329C>TCA492289998POLG,POLGARFc.426G>A (p.Leu142=)
c.481G>A (p.Gly161Ser)
c.27G>A (p.Leu9=)
c.83G>A
n.624G>A
 gnomAD v4
15g.89333330A=CA2194572130POLG,POLGARFc.425T= (p.Leu142=)
c.480T= (p.Pro160=)
c.26T= (p.Leu9=)
c.82T=
n.623T=
15g.89333330A>CCA393771847POLG,POLGARFc.425T>G (p.Leu142Arg)
c.480T>G (p.Pro160=)
c.26T>G (p.Leu9Arg)
c.82T>G
n.623T>G
15g.89333330A>GCA16621678POLG,POLGARFc.425T>C (p.Leu142Pro)
c.480T>C (p.Pro160=)
c.26T>C (p.Leu9Pro)
c.82T>C
n.623T>C
 ClinVar dbSNP gnomAD v2 gnomAD v4
15g.89333330A>TCA393771851POLG,POLGARFc.425T>A (p.Leu142Gln)
c.480T>A (p.Pro160=)
c.26T>A (p.Leu9Gln)
c.82T>A
n.623T>A
 gnomAD v4
15g.89333331G>ACA492290000POLG,POLGARFc.424C>T (p.Leu142=)
c.479C>T (p.Pro160Leu)
c.25C>T (p.Leu9=)
c.81C>T
n.622C>T
 gnomAD v4
15g.89333331G>CCA393771855POLG,POLGARFc.424C>G (p.Leu142Val)
c.479C>G (p.Pro160Arg)
c.25C>G (p.Leu9Val)
c.81C>G
n.622C>G
15g.89333331G>TCA393771853POLG,POLGARFc.424C>A (p.Leu142Met)
c.479C>A (p.Pro160His)
c.25C>A (p.Leu9Met)
c.81C>A
n.622C>A
 gnomAD v4
15g.89333332G>ACA7725114POLG,POLGARFc.423C>T (p.Leu141=)
c.478C>T (p.Pro160Ser)
c.24C>T (p.Leu8=)
c.80C>T
n.621C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15g.89333332G>CCA492290002POLG,POLGARFc.423C>G (p.Leu141=)
c.478C>G (p.Pro160Ala)
c.24C>G (p.Leu8=)
c.80C>G
n.621C>G
15g.89333332G=CA2194572145POLG,POLGARFc.423C= (p.Leu141=)
c.478C= (p.Pro160=)
c.24C= (p.Leu8=)
c.80C=
n.621C=
15g.89333332G>TCA492290004POLG,POLGARFc.423C>A (p.Leu141=)
c.478C>A (p.Pro160Thr)
c.24C>A (p.Leu8=)
c.80C>A
n.621C>A
 gnomAD v4
15g.89333333A=CA2194572151POLG,POLGARFc.422T= (p.Leu141=)
c.477T= (p.Pro159=)
c.23T= (p.Leu8=)
c.79T=
n.620T=
15g.89333333A>CCA393771861POLG,POLGARFc.422T>G (p.Leu141Arg)
c.477T>G (p.Pro159=)
c.23T>G (p.Leu8Arg)
c.79T>G
n.620T>G
15g.89333333A>GCA393771862POLG,POLGARFc.422T>C (p.Leu141Pro)
c.477T>C (p.Pro159=)
c.23T>C (p.Leu8Pro)
c.79T>C
n.620T>C
 dbSNP gnomAD v3 gnomAD v4
15g.89333333A>TCA393771865POLG,POLGARFc.422T>A (p.Leu141His)
c.477T>A (p.Pro159=)
c.23T>A (p.Leu8His)
c.79T>A
n.620T>A
 gnomAD v4

Number of alleles fetched