Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89333234_89333245del | CA2580090384 | POLG,POLGARF | c.514_525del (p.Ala172_Trp175del) c.569_580del (p.Gly190_Leu193del) c.115_126del (p.Ala39_Trp42del) c.171_182del n.712_723del | ClinVar |
15 | g.89333240_89333241del | CA2805168371 | POLG,POLGARF | c.515_516del (p.Ala172GlyfsTer?) c.570_571del (p.Gly191ArgfsTer?) c.116_117del (p.Ala39GlyfsTer?) c.172_173del n.713_714del | |
15 | g.89333240G>A | CA393771140 | POLG,POLGARF | c.515C>T (p.Ala172Val) c.570C>T (p.Gly190=) c.116C>T (p.Ala39Val) c.172C>T n.713C>T | gnomAD v4 |
15 | g.89333240G>C | CA393771135 | POLG,POLGARF | c.515C>G (p.Ala172Gly) c.570C>G (p.Gly190=) c.116C>G (p.Ala39Gly) c.172C>G n.713C>G | |
15 | g.89333240G>T | CA393771138 | POLG,POLGARF | c.515C>A (p.Ala172Glu) c.570C>A (p.Gly190=) c.116C>A (p.Ala39Glu) c.172C>A n.713C>A | gnomAD v4 |
15 | g.89333245_89333250dup | CA2573151274 | POLG,POLGARF | c.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 |
15 | g.89333241C>A | CA274565886 | POLG,POLGARF | c.514G>T (p.Ala172Ser) c.569G>T (p.Gly190Val) c.115G>T (p.Ala39Ser) c.171G>T n.712G>T | dbSNP |
15 | g.89333241C= | CA2194571829 | POLG,POLGARF | c.514G= (p.Ala172=) c.569G= (p.Gly190=) c.115G= (p.Ala39=) c.171G= n.712G= | |
15 | g.89333241C>G | CA393771145 | POLG,POLGARF | c.514G>C (p.Ala172Pro) c.569G>C (p.Gly190Ala) c.115G>C (p.Ala39Pro) c.171G>C n.712G>C | |
15 | g.89333241C>T | CA393771148 | POLG,POLGARF | c.514G>A (p.Ala172Thr) c.569G>A (p.Gly190Asp) c.115G>A (p.Ala39Thr) c.171G>A n.712G>A | gnomAD v4 |
15 | g.89333242C>A | CA393771157 | POLG,POLGARF | c.513G>T (p.Trp171Cys) c.568G>T (p.Gly190Cys) c.114G>T (p.Trp38Cys) c.170G>T n.711G>T | gnomAD v4 |
15 | g.89333242C>G | CA393771154 | POLG,POLGARF | c.513G>C (p.Trp171Cys) c.568G>C (p.Gly190Arg) c.114G>C (p.Trp38Cys) c.170G>C n.711G>C | gnomAD v4 |
15 | g.89333242C>T | CA393771151 | POLG,POLGARF | c.513G>A (p.Trp171Ter) c.568G>A (p.Gly190Ser) c.114G>A (p.Trp38Ter) c.170G>A n.711G>A | |
15 | g.89333243C>A | CA393771160 | POLG,POLGARF | c.512G>T (p.Trp171Leu) c.567G>T (p.Leu189=) c.113G>T (p.Trp38Leu) c.169G>T n.710G>T | gnomAD v4 |
15 | g.89333243C= | CA2194571833 | POLG,POLGARF | c.512G= (p.Trp171=) c.567G= (p.Leu189=) c.113G= (p.Trp38=) c.169G= n.710G= | |
15 | g.89333243C>G | CA393771163 | POLG,POLGARF | c.512G>C (p.Trp171Ser) c.567G>C (p.Leu189=) c.113G>C (p.Trp38Ser) c.169G>C n.710G>C | gnomAD v4 |
15 | g.89333243C>T | CA274565887 | POLG,POLGARF | c.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 |
15 | g.89333244A>C | CA393771169 | POLG,POLGARF | c.511T>G (p.Trp171Gly) c.566T>G (p.Leu189Arg) c.112T>G (p.Trp38Gly) c.168T>G n.709T>G | |
15 | g.89333244A>G | CA393771170 | POLG,POLGARF | c.511T>C (p.Trp171Arg) c.566T>C (p.Leu189Pro) c.112T>C (p.Trp38Arg) c.168T>C n.709T>C | gnomAD v4 |
15 | g.89333244A>T | CA393771172 | POLG,POLGARF | c.511T>A (p.Trp171Arg) c.566T>A (p.Leu189Gln) c.112T>A (p.Trp38Arg) c.168T>A n.709T>A | |
15 | g.89333245G>A | CA492290023 | POLG,POLGARF | c.510C>T (p.Ala170=) c.565C>T (p.Leu189=) c.111C>T (p.Ala37=) c.167C>T n.708C>T | gnomAD v4 COSMIC |
15 | g.89333245G>C | CA492290024 | POLG,POLGARF | c.510C>G (p.Ala170=) c.565C>G (p.Leu189Val) c.111C>G (p.Ala37=) c.167C>G n.708C>G | ClinVar gnomAD v4 |
15 | g.89333245G>T | CA492290026 | POLG,POLGARF | c.510C>A (p.Ala170=) c.565C>A (p.Leu189Met) c.111C>A (p.Ala37=) c.167C>A n.708C>A | |
15 | g.89333246G>A | CA7725105 | POLG,POLGARF | c.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 |
15 | g.89333246G>C | CA393771182 | POLG,POLGARF | c.509C>G (p.Ala170Gly) c.564C>G (p.Gly188=) c.110C>G (p.Ala37Gly) c.166C>G n.707C>G | |
15 | g.89333246G= | CA2194571840 | POLG,POLGARF | c.509C= (p.Ala170=) c.564C= (p.Gly188=) c.110C= (p.Ala37=) c.166C= n.707C= | |
15 | g.89333246G>T | CA393771179 | POLG,POLGARF | c.509C>A (p.Ala170Asp) c.564C>A (p.Gly188=) c.110C>A (p.Ala37Asp) c.166C>A n.707C>A | gnomAD v4 |
15 | g.89333247C>A | CA393771185 | POLG,POLGARF | c.508G>T (p.Ala170Ser) c.563G>T (p.Gly188Val) c.109G>T (p.Ala37Ser) c.165G>T n.706G>T | ClinVar gnomAD v4 |
15 | g.89333247C>G | CA393771187 | POLG,POLGARF | c.508G>C (p.Ala170Pro) c.563G>C (p.Gly188Ala) c.109G>C (p.Ala37Pro) c.165G>C n.706G>C | |
15 | g.89333247C>T | CA393771191 | POLG,POLGARF | c.508G>A (p.Ala170Thr) c.563G>A (p.Gly188Asp) c.109G>A (p.Ala37Thr) c.165G>A n.706G>A | gnomAD v4 |
15 | g.89333249del | CA2695197359 | POLG,POLGARF | c.508del (p.Ala170ProfsTer?) c.563del (p.Gly188AlafsTer?) c.109del (p.Ala37ProfsTer?) c.165del n.706del | ClinVar |
15 | g.89333248C>A | CA393771196 | POLG,POLGARF | c.507G>T (p.Trp169Cys) c.562G>T (p.Gly188Cys) c.108G>T (p.Trp36Cys) c.164G>T n.705G>T | gnomAD v4 |
15 | g.89333248C>G | CA393771198 | POLG,POLGARF | c.507G>C (p.Trp169Cys) c.562G>C (p.Gly188Arg) c.108G>C (p.Trp36Cys) c.164G>C n.705G>C | |
15 | g.89333248C>T | CA393771200 | POLG,POLGARF | c.507G>A (p.Trp169Ter) c.562G>A (p.Gly188Ser) c.108G>A (p.Trp36Ter) c.164G>A n.705G>A | |
15 | g.89333249C>A | CA393771203 | POLG,POLGARF | c.506G>T (p.Trp169Leu) c.561G>T (p.Leu187Phe) c.107G>T (p.Trp36Leu) c.163G>T n.704G>T | gnomAD v4 |
15 | g.89333249C>G | CA393771206 | POLG,POLGARF | c.506G>C (p.Trp169Ser) c.561G>C (p.Leu187Phe) c.107G>C (p.Trp36Ser) c.163G>C n.704G>C | |
15 | g.89333249C>T | CA393771210 | POLG,POLGARF | c.506G>A (p.Trp169Ter) c.561G>A (p.Leu187=) c.107G>A (p.Trp36Ter) c.163G>A n.704G>A | gnomAD v4 |
15 | g.89333250A>C | CA393771214 | POLG,POLGARF | c.505T>G (p.Trp169Gly) c.560T>G (p.Leu187Trp) c.106T>G (p.Trp36Gly) c.162T>G n.703T>G | |
15 | g.89333250A>G | CA393771217 | POLG,POLGARF | c.505T>C (p.Trp169Arg) c.560T>C (p.Leu187Ser) c.106T>C (p.Trp36Arg) c.162T>C n.703T>C | |
15 | g.89333250A>T | CA393771220 | POLG,POLGARF | c.505T>A (p.Trp169Arg) c.560T>A (p.Leu187Ter) c.106T>A (p.Trp36Arg) c.162T>A n.703T>A | |
15 | g.89333251del | CA912994747 | POLG,POLGARF | c.505del (p.Trp169GlyfsTer?) c.560del (p.Leu187TrpfsTer?) c.106del (p.Trp36GlyfsTer?) c.162del n.703del | |
15 | g.89333251A>C | CA492290029 | POLG,POLGARF | c.504T>G (p.Ala168=) c.559T>G (p.Leu187Val) c.105T>G (p.Ala35=) c.161T>G n.702T>G | |
15 | g.89333251A>G | CA492290030 | POLG,POLGARF | c.504T>C (p.Ala168=) c.559T>C (p.Leu187=) c.105T>C (p.Ala35=) c.161T>C n.702T>C | gnomAD v4 |
15 | g.89333251A>T | CA492290031 | POLG,POLGARF | c.504T>A (p.Ala168=) c.559T>A (p.Leu187Met) c.105T>A (p.Ala35=) c.161T>A n.702T>A | |
15 | g.89333252G>A | CA393771227 | POLG,POLGARF | c.503C>T (p.Ala168Val) c.558C>T (p.Gly186=) c.104C>T (p.Ala35Val) c.160C>T n.701C>T | |
15 | g.89333252G>C | CA393771230 | POLG,POLGARF | c.503C>G (p.Ala168Gly) c.558C>G (p.Gly186=) c.104C>G (p.Ala35Gly) c.160C>G n.701C>G | |
15 | g.89333252G>T | CA393771226 | POLG,POLGARF | c.503C>A (p.Ala168Asp) c.558C>A (p.Gly186=) c.104C>A (p.Ala35Asp) c.160C>A n.701C>A | gnomAD v4 |
15 | g.89333253C>A | CA393771235 | POLG,POLGARF | c.502G>T (p.Ala168Ser) c.557G>T (p.Gly186Val) c.103G>T (p.Ala35Ser) c.159G>T n.700G>T | dbSNP gnomAD v4 |
15 | g.89333253C= | CA2194571847 | POLG,POLGARF | c.502G= (p.Ala168=) c.557G= (p.Gly186=) c.103G= (p.Ala35=) c.159G= n.700G= | |
15 | g.89333253C>G | CA393771242 | POLG,POLGARF | c.502G>C (p.Ala168Pro) c.557G>C (p.Gly186Ala) c.103G>C (p.Ala35Pro) c.159G>C n.700G>C | ClinVar dbSNP |
15 | g.89333253C>T | CA393771237 | POLG,POLGARF | c.502G>A (p.Ala168Thr) c.557G>A (p.Gly186Asp) c.103G>A (p.Ala35Thr) c.159G>A n.700G>A | dbSNP |
15 | g.89333254C>A | CA492290036 | POLG,POLGARF | c.501G>T (p.Pro167=) c.556G>T (p.Gly186Cys) c.102G>T (p.Pro34=) c.158G>T n.699G>T | gnomAD v4 |
15 | g.89333254C= | CA2194571854 | POLG,POLGARF | c.501G= (p.Pro167=) c.556G= (p.Gly186=) c.102G= (p.Pro34=) c.158G= n.699G= | |
15 | g.89333254C>G | CA492290037 | POLG,POLGARF | c.501G>C (p.Pro167=) c.556G>C (p.Gly186Arg) c.102G>C (p.Pro34=) c.158G>C n.699G>C | ClinVar |
15 | g.89333254C>T | CA10606974 | POLG,POLGARF | c.501G>A (p.Pro167=) c.556G>A (p.Gly186Ser) c.102G>A (p.Pro34=) c.158G>A n.699G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333261_89333269del | CA2630256930 | POLG,POLGARF | c.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 |
15 | g.89333255G>A | CA393771248 | POLG,POLGARF | c.500C>T (p.Pro167Leu) c.555C>T (p.Pro185=) c.101C>T (p.Pro34Leu) c.157C>T n.698C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333255G>C | CA393771250 | POLG,POLGARF | c.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 |
15 | g.89333255G= | CA2194571856 | POLG,POLGARF | c.500C= (p.Pro167=) c.555C= (p.Pro185=) c.101C= (p.Pro34=) c.157C= n.698C= | |
15 | g.89333255G>T | CA393771253 | POLG,POLGARF | c.500C>A (p.Pro167Gln) c.555C>A (p.Pro185=) c.101C>A (p.Pro34Gln) c.157C>A n.698C>A | gnomAD v4 |
15 | g.89333259del | CA2630256931 | POLG,POLGARF | c.500del (p.Pro167ArgfsTer?) c.555del (p.Gly186AlafsTer?) c.101del (p.Pro34ArgfsTer?) c.157del n.698del | gnomAD v4 |
15 | g.89333256G>A | CA393771257 | POLG,POLGARF | c.499C>T (p.Pro167Ser) c.554C>T (p.Pro185Leu) c.100C>T (p.Pro34Ser) c.156C>T n.697C>T | gnomAD v4 |
15 | g.89333256G>C | CA393771260 | POLG,POLGARF | c.499C>G (p.Pro167Ala) c.554C>G (p.Pro185Arg) c.100C>G (p.Pro34Ala) c.156C>G n.697C>G | |
15 | g.89333256G>T | CA393771264 | POLG,POLGARF | c.499C>A (p.Pro167Thr) c.554C>A (p.Pro185His) c.100C>A (p.Pro34Thr) c.156C>A n.697C>A | |
15 | g.89333257G>A | CA492289913 | POLG,POLGARF | c.498C>T (p.Pro166=) c.553C>T (p.Pro185Ser) c.99C>T (p.Pro33=) c.155C>T n.696C>T | |
15 | g.89333257G>C | CA492289914 | POLG,POLGARF | c.498C>G (p.Pro166=) c.553C>G (p.Pro185Ala) c.99C>G (p.Pro33=) c.155C>G n.696C>G | |
15 | g.89333257G>T | CA492289915 | POLG,POLGARF | c.498C>A (p.Pro166=) c.553C>A (p.Pro185Thr) c.99C>A (p.Pro33=) c.155C>A n.696C>A | gnomAD v4 |
15 | g.89333258G>A | CA393771268 | POLG,POLGARF | c.497C>T (p.Pro166Leu) c.552C>T (p.Ala184=) c.98C>T (p.Pro33Leu) c.154C>T n.695C>T | ClinVar gnomAD v4 |
15 | g.89333258G>C | CA393771271 | POLG,POLGARF | c.497C>G (p.Pro166Arg) c.552C>G (p.Ala184=) c.98C>G (p.Pro33Arg) c.154C>G n.695C>G | |
15 | g.89333258G= | CA2194571861 | POLG,POLGARF | c.497C= (p.Pro166=) c.552C= (p.Ala184=) c.98C= (p.Pro33=) c.154C= n.695C= | |
15 | g.89333258G>T | CA393771274 | POLG,POLGARF | c.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 |
15 | g.89333259G>A | CA393771281 | POLG,POLGARF | c.496C>T (p.Pro166Ser) c.551C>T (p.Ala184Val) c.97C>T (p.Pro33Ser) c.153C>T n.694C>T | ClinVar gnomAD v4 |
15 | g.89333259G>C | CA393771278 | POLG,POLGARF | c.496C>G (p.Pro166Ala) c.551C>G (p.Ala184Gly) c.97C>G (p.Pro33Ala) c.153C>G n.694C>G | gnomAD v4 |
15 | g.89333259G>T | CA393771276 | POLG,POLGARF | c.496C>A (p.Pro166Thr) c.551C>A (p.Ala184Asp) c.97C>A (p.Pro33Thr) c.153C>A n.694C>A | |
15 | g.89333260C>A | CA393771284 | POLG,POLGARF | c.495G>T (p.Lys165Asn) c.550G>T (p.Ala184Ser) c.96G>T (p.Lys32Asn) c.152G>T n.693G>T | gnomAD v4 |
15 | g.89333260C>G | CA393771286 | POLG,POLGARF | c.495G>C (p.Lys165Asn) c.550G>C (p.Ala184Pro) c.96G>C (p.Lys32Asn) c.152G>C n.693G>C | |
15 | g.89333260C>T | CA492289918 | POLG,POLGARF | c.495G>A (p.Lys165=) c.550G>A (p.Ala184Thr) c.96G>A (p.Lys32=) c.152G>A n.693G>A | |
15 | g.89333260_89333262delinsCTT | CA2194571864 | POLG,POLGARF | c.493_495delinsAAG (p.Lys165=) c.548_550delinsAAG (p.Glu183=) c.94_96delinsAAG (p.Lys32=) c.150_152delinsAAG n.691_693delinsAAG | |
15 | g.89333261T>A | CA393771291 | POLG,POLGARF | c.494A>T (p.Lys165Met) c.549A>T (p.Glu183Asp) c.95A>T (p.Lys32Met) c.151A>T n.692A>T | |
15 | g.89333261T>C | CA393771292 | POLG,POLGARF | c.494A>G (p.Lys165Arg) c.549A>G (p.Glu183=) c.95A>G (p.Lys32Arg) c.151A>G n.692A>G | ClinVar dbSNP |
15 | g.89333261T>G | CA393771294 | POLG,POLGARF | c.494A>C (p.Lys165Thr) c.549A>C (p.Glu183Asp) c.95A>C (p.Lys32Thr) c.151A>C n.692A>C | |
15 | g.89333261T= | CA2194571872 | POLG,POLGARF | c.494A= (p.Lys165=) c.549A= (p.Glu183=) c.95A= (p.Lys32=) c.151A= n.692A= | |
15 | g.89333261_89333262del | CA2194571906 | POLG,POLGARF | c.493_494del (p.Lys165AlafsTer?) c.548_549del (p.Glu183GlyfsTer?) c.94_95del (p.Lys32AlafsTer?) c.150_151del n.691_692del | dbSNP |
15 | g.89333262T>A | CA393771299 | POLG,POLGARF | c.493A>T (p.Lys165Ter) c.548A>T (p.Glu183Val) c.94A>T (p.Lys32Ter) c.150A>T n.691A>T | |
15 | g.89333262T>C | CA393771302 | POLG,POLGARF | c.493A>G (p.Lys165Glu) c.548A>G (p.Glu183Gly) c.94A>G (p.Lys32Glu) c.150A>G n.691A>G | gnomAD v4 |
15 | g.89333262T>G | CA393771304 | POLG,POLGARF | c.493A>C (p.Lys165Gln) c.548A>C (p.Glu183Ala) c.94A>C (p.Lys32Gln) c.150A>C n.691A>C | |
15 | g.89333263C>A | CA492289923 | POLG,POLGARF | c.492G>T (p.Pro164=) c.547G>T (p.Glu183Ter) c.93G>T (p.Pro31=) c.149G>T n.690G>T | |
15 | g.89333263C>G | CA492289921 | POLG,POLGARF | c.492G>C (p.Pro164=) c.547G>C (p.Glu183Gln) c.93G>C (p.Pro31=) c.149G>C n.690G>C | gnomAD v4 |
15 | g.89333263C>T | CA492289922 | POLG,POLGARF | c.492G>A (p.Pro164=) c.547G>A (p.Glu183Lys) c.93G>A (p.Pro31=) c.149G>A n.690G>A | gnomAD v4 |
15 | g.89333264G>A | CA393771307 | POLG,POLGARF | c.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 |
15 | g.89333264G>C | CA393771309 | POLG,POLGARF | c.491C>G (p.Pro164Arg) c.546C>G (p.Pro182=) c.92C>G (p.Pro31Arg) c.148C>G n.689C>G | |
15 | g.89333264G= | CA2194571917 | POLG,POLGARF | c.491C= (p.Pro164=) c.546C= (p.Pro182=) c.92C= (p.Pro31=) c.148C= n.689C= | |
15 | g.89333264G>T | CA393771320 | POLG,POLGARF | c.491C>A (p.Pro164Gln) c.546C>A (p.Pro182=) c.92C>A (p.Pro31Gln) c.148C>A n.689C>A | |
15 | g.89333268dup | CA2832566886 | POLG,POLGARF | c.491dup (p.Lys165GlufsTer?) c.546dup (p.Glu183ArgfsTer?) c.92dup (p.Lys32GlufsTer?) c.148dup n.689dup | |
15 | g.89333268del | CA2630256932 | POLG,POLGARF | c.491del (p.Pro164ArgfsTer?) c.546del (p.Glu183LysfsTer?) c.92del (p.Pro31ArgfsTer?) c.148del n.689del | gnomAD v4 |
15 | g.89333265G>A | CA393771326 | POLG,POLGARF | c.490C>T (p.Pro164Ser) c.545C>T (p.Pro182Leu) c.91C>T (p.Pro31Ser) c.147C>T n.688C>T | gnomAD v4 |
15 | g.89333265G>C | CA7725106 | POLG,POLGARF | c.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 |
15 | g.89333265G= | CA2194571921 | POLG,POLGARF | c.490C= (p.Pro164=) c.545C= (p.Pro182=) c.91C= (p.Pro31=) c.147C= n.688C= | |
15 | g.89333265G>T | CA393771324 | POLG,POLGARF | c.490C>A (p.Pro164Thr) c.545C>A (p.Pro182His) c.91C>A (p.Pro31Thr) c.147C>A n.688C>A | ClinVar gnomAD v4 |
15 | g.89333266G>A | CA16607920 | POLG,POLGARF | c.489C>T (p.Pro163=) c.544C>T (p.Pro182Ser) c.90C>T (p.Pro30=) c.146C>T n.687C>T | ClinVar dbSNP |
15 | g.89333266G>C | CA492289925 | POLG,POLGARF | c.489C>G (p.Pro163=) c.544C>G (p.Pro182Ala) c.90C>G (p.Pro30=) c.146C>G n.687C>G | |
15 | g.89333266G= | CA2194571931 | POLG,POLGARF | c.489C= (p.Pro163=) c.544C= (p.Pro182=) c.90C= (p.Pro30=) c.146C= n.687C= | |
15 | g.89333266G>T | CA492289926 | POLG,POLGARF | c.489C>A (p.Pro163=) c.544C>A (p.Pro182Thr) c.90C>A (p.Pro30=) c.146C>A n.687C>A | gnomAD v4 |
15 | g.89333267G>A | CA316802 | POLG,POLGARF | c.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 |
15 | g.89333267G>C | CA393771333 | POLG,POLGARF | c.488C>G (p.Pro163Arg) c.543C>G (p.Ala181=) c.89C>G (p.Pro30Arg) c.145C>G n.686C>G | |
15 | g.89333267G= | CA2194571942 | POLG,POLGARF | c.488C= (p.Pro163=) c.543C= (p.Ala181=) c.89C= (p.Pro30=) c.145C= n.686C= | |
15 | g.89333267G>T | CA393771339 | POLG,POLGARF | c.488C>A (p.Pro163His) c.543C>A (p.Ala181=) c.89C>A (p.Pro30His) c.145C>A n.686C>A | |
15 | g.89333268G>A | CA7725107 | POLG,POLGARF | c.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 |
15 | g.89333268G>C | CA393771348 | POLG,POLGARF | c.487C>G (p.Pro163Ala) c.542C>G (p.Ala181Gly) c.88C>G (p.Pro30Ala) c.144C>G n.685C>G | |
15 | g.89333268G= | CA2194571950 | POLG,POLGARF | c.487C= (p.Pro163=) c.542C= (p.Ala181=) c.88C= (p.Pro30=) c.144C= n.685C= | |
15 | g.89333268G>T | CA393771350 | POLG,POLGARF | c.487C>A (p.Pro163Thr) c.542C>A (p.Ala181Asp) c.88C>A (p.Pro30Thr) c.144C>A n.685C>A | gnomAD v4 |
15 | g.89333268_89333269insGC | CA2194571968 | POLG,POLGARF | c.486_487insGC (p.Pro163AlafsTer?) c.541_542insGC (p.Ala181GlyfsTer?) c.87_88insGC (p.Pro30AlafsTer?) c.143_144insGC n.684_685insGC | dbSNP |
15 | g.89333269C>A | CA492289930 | POLG,POLGARF | c.486G>T (p.Leu162=) c.541G>T (p.Ala181Ser) c.87G>T (p.Leu29=) c.143G>T n.684G>T | gnomAD v4 |
15 | g.89333269C>G | CA492289929 | POLG,POLGARF | c.486G>C (p.Leu162=) c.541G>C (p.Ala181Pro) c.87G>C (p.Leu29=) c.143G>C n.684G>C | |
15 | g.89333269C>T | CA492289931 | POLG,POLGARF | c.486G>A (p.Leu162=) c.541G>A (p.Ala181Thr) c.87G>A (p.Leu29=) c.143G>A n.684G>A | ClinVar gnomAD v4 |
15 | g.89333270A>C | CA393771358 | POLG,POLGARF | c.485T>G (p.Leu162Arg) c.540T>G (p.Ala180=) c.86T>G (p.Leu29Arg) c.142T>G n.683T>G | |
15 | g.89333270A>G | CA393771353 | POLG,POLGARF | c.485T>C (p.Leu162Pro) c.540T>C (p.Ala180=) c.86T>C (p.Leu29Pro) c.142T>C n.683T>C | |
15 | g.89333270A>T | CA393771355 | POLG,POLGARF | c.485T>A (p.Leu162Gln) c.540T>A (p.Ala180=) c.86T>A (p.Leu29Gln) c.142T>A n.683T>A | |
15 | g.89333271G>A | CA7725108 | POLG,POLGARF | c.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 |
15 | g.89333271G>C | CA393771362 | POLG,POLGARF | c.484C>G (p.Leu162Val) c.539C>G (p.Ala180Gly) c.85C>G (p.Leu29Val) c.141C>G n.682C>G | ClinVar dbSNP |
15 | g.89333271G= | CA2194571974 | POLG,POLGARF | c.484C= (p.Leu162=) c.539C= (p.Ala180=) c.85C= (p.Leu29=) c.141C= n.682C= | |
15 | g.89333271G>T | CA393771363 | POLG,POLGARF | c.484C>A (p.Leu162Met) c.539C>A (p.Ala180Asp) c.85C>A (p.Leu29Met) c.141C>A n.682C>A | |
15 | g.89333272C>A | CA393771364 | POLG,POLGARF | c.483G>T (p.Gln161His) c.538G>T (p.Ala180Ser) c.84G>T (p.Gln28His) c.140G>T n.681G>T | gnomAD v4 |
15 | g.89333272C>G | CA393771365 | POLG,POLGARF | c.483G>C (p.Gln161His) c.538G>C (p.Ala180Pro) c.84G>C (p.Gln28His) c.140G>C n.681G>C | |
15 | g.89333272C>T | CA492289932 | POLG,POLGARF | c.483G>A (p.Gln161=) c.538G>A (p.Ala180Thr) c.84G>A (p.Gln28=) c.140G>A n.681G>A | gnomAD v4 |
15 | g.89333273T>A | CA393771367 | POLG,POLGARF | c.482A>T (p.Gln161Leu) c.537A>T (p.Pro179=) c.83A>T (p.Gln28Leu) c.139A>T n.680A>T | |
15 | g.89333273T>C | CA393771372 | POLG,POLGARF | c.482A>G (p.Gln161Arg) c.537A>G (p.Pro179=) c.83A>G (p.Gln28Arg) c.139A>G n.680A>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333273T>G | CA393771368 | POLG,POLGARF | c.482A>C (p.Gln161Pro) c.537A>C (p.Pro179=) c.83A>C (p.Gln28Pro) c.139A>C n.680A>C | |
15 | g.89333274G>A | CA393771375 | POLG,POLGARF | c.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 |
15 | g.89333274G>C | CA393771377 | POLG,POLGARF | c.481C>G (p.Gln161Glu) c.536C>G (p.Pro179Arg) c.82C>G (p.Gln28Glu) c.138C>G n.679C>G | |
15 | g.89333274G= | CA2194571989 | POLG,POLGARF | c.481C= (p.Gln161=) c.536C= (p.Pro179=) c.82C= (p.Gln28=) c.138C= n.679C= | |
15 | g.89333274G>T | CA393771379 | POLG,POLGARF | c.481C>A (p.Gln161Lys) c.536C>A (p.Pro179Gln) c.82C>A (p.Gln28Lys) c.138C>A n.679C>A | |
15 | g.89333275G>A | CA492289934 | POLG,POLGARF | c.480C>T (p.Ala160=) c.535C>T (p.Pro179Ser) c.81C>T (p.Ala27=) c.137C>T n.678C>T | dbSNP |
15 | g.89333275G>C | CA492289935 | POLG,POLGARF | c.480C>G (p.Ala160=) c.535C>G (p.Pro179Ala) c.81C>G (p.Ala27=) c.137C>G n.678C>G | |
15 | g.89333275G= | CA2194572000 | POLG,POLGARF | c.480C= (p.Ala160=) c.535C= (p.Pro179=) c.81C= (p.Ala27=) c.137C= n.678C= | |
15 | g.89333275G>T | CA492289936 | POLG,POLGARF | c.480C>A (p.Ala160=) c.535C>A (p.Pro179Thr) c.81C>A (p.Ala27=) c.137C>A n.678C>A | gnomAD v4 |
15 | g.89333276G>A | CA393771382 | POLG,POLGARF | c.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 |
15 | g.89333276G>C | CA393771386 | POLG,POLGARF | c.479C>G (p.Ala160Gly) c.534C>G (p.Gly178=) c.80C>G (p.Ala27Gly) c.136C>G n.677C>G | |
15 | g.89333276G= | CA2194572009 | POLG,POLGARF | c.479C= (p.Ala160=) c.534C= (p.Gly178=) c.80C= (p.Ala27=) c.136C= n.677C= | |
15 | g.89333276G>T | CA393771388 | POLG,POLGARF | c.479C>A (p.Ala160Asp) c.534C>A (p.Gly178=) c.80C>A (p.Ala27Asp) c.136C>A n.677C>A | gnomAD v4 |
15 | g.89333277C>A | CA393771391 | POLG,POLGARF | c.478G>T (p.Ala160Ser) c.533G>T (p.Gly178Val) c.79G>T (p.Ala27Ser) c.135G>T n.676G>T | gnomAD v4 |
15 | g.89333277C>G | CA393771392 | POLG,POLGARF | c.478G>C (p.Ala160Pro) c.533G>C (p.Gly178Ala) c.79G>C (p.Ala27Pro) c.135G>C n.676G>C | |
15 | g.89333277C>T | CA393771395 | POLG,POLGARF | c.478G>A (p.Ala160Thr) c.533G>A (p.Gly178Asp) c.79G>A (p.Ala27Thr) c.135G>A n.676G>A | gnomAD v4 |
15 | g.89333278C>A | CA393771397 | POLG,POLGARF | c.477G>T (p.Gln159His) c.532G>T (p.Gly178Cys) c.78G>T (p.Gln26His) c.134G>T n.675G>T | dbSNP |
15 | g.89333278C= | CA2194572026 | POLG,POLGARF | c.477G= (p.Gln159=) c.532G= (p.Gly178=) c.78G= (p.Gln26=) c.134G= n.675G= | |
15 | g.89333278C>G | CA393771400 | POLG,POLGARF | c.477G>C (p.Gln159His) c.532G>C (p.Gly178Arg) c.78G>C (p.Gln26His) c.134G>C n.675G>C | dbSNP |
15 | g.89333278C>T | CA492289940 | POLG,POLGARF | c.477G>A (p.Gln159=) c.532G>A (p.Gly178Ser) c.78G>A (p.Gln26=) c.134G>A n.675G>A | gnomAD v4 |
15 | g.89333279T>A | CA393771411 | POLG,POLGARF | c.476A>T (p.Gln159Leu) c.531A>T (p.Ala177=) c.77A>T (p.Gln26Leu) c.133A>T n.674A>T | |
15 | g.89333279T>C | CA393771408 | POLG,POLGARF | c.476A>G (p.Gln159Arg) c.531A>G (p.Ala177=) c.77A>G (p.Gln26Arg) c.133A>G n.674A>G | gnomAD v4 |
15 | g.89333279T>G | CA393771404 | POLG,POLGARF | c.476A>C (p.Gln159Pro) c.531A>C (p.Ala177=) c.77A>C (p.Gln26Pro) c.133A>C n.674A>C | |
15 | g.89333280del | CA2843304759 | POLG,POLGARF | c.475del (p.Gln159ArgfsTer?) c.530del (p.Ala177GlufsTer?) c.76del (p.Gln26ArgfsTer?) c.132del n.673del | |
15 | g.89333280G>A | CA393771414 | POLG,POLGARF | c.475C>T (p.Gln159Ter) c.530C>T (p.Ala177Val) c.76C>T (p.Gln26Ter) c.132C>T n.673C>T | gnomAD v4 |
15 | g.89333280G>C | CA393771419 | POLG,POLGARF | c.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 |
15 | g.89333280G= | CA2194572034 | POLG,POLGARF | c.475C= (p.Gln159=) c.530C= (p.Ala177=) c.76C= (p.Gln26=) c.132C= n.673C= | |
15 | g.89333280G>T | CA393771417 | POLG,POLGARF | c.475C>A (p.Gln159Lys) c.530C>A (p.Ala177Glu) c.76C>A (p.Gln26Lys) c.132C>A n.673C>A | gnomAD v4 |
15 | g.89333281C>A | CA393771423 | POLG,POLGARF | c.474G>T (p.Leu158Phe) c.529G>T (p.Ala177Ser) c.75G>T (p.Leu25Phe) c.131G>T n.672G>T | gnomAD v4 |
15 | g.89333281C>G | CA393771426 | POLG,POLGARF | c.474G>C (p.Leu158Phe) c.529G>C (p.Ala177Pro) c.75G>C (p.Leu25Phe) c.131G>C n.672G>C | |
15 | g.89333281C>T | CA492289944 | POLG,POLGARF | c.474G>A (p.Leu158=) c.529G>A (p.Ala177Thr) c.75G>A (p.Leu25=) c.131G>A n.672G>A | gnomAD v4 |
15 | g.89333282A>C | CA393771434 | POLG,POLGARF | c.473T>G (p.Leu158Trp) c.528T>G (p.Val176=) c.74T>G (p.Leu25Trp) c.130T>G n.671T>G | |
15 | g.89333282A>G | CA393771439 | POLG,POLGARF | c.473T>C (p.Leu158Ser) c.528T>C (p.Val176=) c.74T>C (p.Leu25Ser) c.130T>C n.671T>C | |
15 | g.89333282A>T | CA393771436 | POLG,POLGARF | c.473T>A (p.Leu158Ter) c.528T>A (p.Val176=) c.74T>A (p.Leu25Ter) c.130T>A n.671T>A | |
15 | g.89333283A= | CA2194572038 | POLG,POLGARF | c.472T= (p.Leu158=) c.527T= (p.Val176=) c.73T= (p.Leu25=) c.129T= n.670T= | |
15 | g.89333283A>C | CA393771442 | POLG,POLGARF | c.472T>G (p.Leu158Val) c.527T>G (p.Val176Gly) c.73T>G (p.Leu25Val) c.129T>G n.670T>G | gnomAD v4 |
15 | g.89333283A>G | CA492289945 | POLG,POLGARF | c.472T>C (p.Leu158=) c.527T>C (p.Val176Ala) c.73T>C (p.Leu25=) c.129T>C n.670T>C | ClinVar dbSNP |
15 | g.89333283A>T | CA393771444 | POLG,POLGARF | c.472T>A (p.Leu158Met) c.527T>A (p.Val176Asp) c.73T>A (p.Leu25Met) c.129T>A n.670T>A | |
15 | g.89333284C>A | CA7725109 | POLG,POLGARF | c.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 |
15 | g.89333284C= | CA2194572051 | POLG,POLGARF | c.471G= (p.Leu157=) c.526G= (p.Val176=) c.72G= (p.Leu24=) c.128G= n.669G= | |
15 | g.89333284C>G | CA492289946 | POLG,POLGARF | c.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 |
15 | g.89333284C>T | CA492289947 | POLG,POLGARF | c.471G>A (p.Leu157=) c.526G>A (p.Val176Ile) c.72G>A (p.Leu24=) c.128G>A n.669G>A | gnomAD v4 |
15 | g.89333285A= | CA2194572057 | POLG,POLGARF | c.470T= (p.Leu157=) c.525T= (p.Ala175=) c.71T= (p.Leu24=) c.127T= n.668T= | |
15 | g.89333285A>C | CA393771448 | POLG,POLGARF | c.470T>G (p.Leu157Arg) c.525T>G (p.Ala175=) c.71T>G (p.Leu24Arg) c.127T>G n.668T>G | |
15 | g.89333285A>G | CA10602290 | POLG,POLGARF | c.470T>C (p.Leu157Pro) c.525T>C (p.Ala175=) c.71T>C (p.Leu24Pro) c.127T>C n.668T>C | ClinVar dbSNP |
15 | g.89333285A>T | CA393771459 | POLG,POLGARF | c.470T>A (p.Leu157Gln) c.525T>A (p.Ala175=) c.71T>A (p.Leu24Gln) c.127T>A n.668T>A | |
15 | g.89333286G>A | CA492289951 | POLG,POLGARF | c.469C>T (p.Leu157=) c.524C>T (p.Ala175Val) c.70C>T (p.Leu24=) c.126C>T n.667C>T | gnomAD v4 |
15 | g.89333286G>C | CA393771462 | POLG,POLGARF | c.469C>G (p.Leu157Val) c.524C>G (p.Ala175Gly) c.70C>G (p.Leu24Val) c.126C>G n.667C>G | |
15 | g.89333286G>T | CA393771465 | POLG,POLGARF | c.469C>A (p.Leu157Met) c.524C>A (p.Ala175Asp) c.70C>A (p.Leu24Met) c.126C>A n.667C>A | gnomAD v4 |
15 | g.89333287C>A | CA393771481 | POLG,POLGARF | c.468G>T (p.Leu156Phe) c.523G>T (p.Ala175Ser) c.69G>T (p.Leu23Phe) c.125G>T n.666G>T | |
15 | g.89333287C= | CA2194572060 | POLG,POLGARF | c.468G= (p.Leu156=) c.523G= (p.Ala175=) c.69G= (p.Leu23=) c.125G= n.666G= | |
15 | g.89333287C>G | CA393771485 | POLG,POLGARF | c.468G>C (p.Leu156Phe) c.523G>C (p.Ala175Pro) c.69G>C (p.Leu23Phe) c.125G>C n.666G>C | ClinVar |
15 | g.89333287C>T | CA492289952 | POLG,POLGARF | c.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 |
15 | g.89333288A>C | CA393771490 | POLG,POLGARF | c.467T>G (p.Leu156Trp) c.522T>G (p.Leu174=) c.68T>G (p.Leu23Trp) c.124T>G n.665T>G | |
15 | g.89333288A>G | CA393771495 | POLG,POLGARF | c.467T>C (p.Leu156Ser) c.522T>C (p.Leu174=) c.68T>C (p.Leu23Ser) c.124T>C n.665T>C | ClinVar |
15 | g.89333288A>T | CA393771492 | POLG,POLGARF | c.467T>A (p.Leu156Ter) c.522T>A (p.Leu174=) c.68T>A (p.Leu23Ter) c.124T>A n.665T>A | |
15 | g.89333289del | CA2843304761 | POLG,POLGARF | c.467del (p.Leu156CysfsTer?) c.522del (p.Ala175LeufsTer?) c.68del (p.Leu23CysfsTer?) c.124del n.665del | |
15 | g.89333289A>C | CA393771499 | POLG,POLGARF | c.466T>G (p.Leu156Val) c.521T>G (p.Leu174Arg) c.67T>G (p.Leu23Val) c.123T>G n.664T>G | |
15 | g.89333289A>G | CA492289953 | POLG,POLGARF | c.466T>C (p.Leu156=) c.521T>C (p.Leu174Pro) c.67T>C (p.Leu23=) c.123T>C n.664T>C | gnomAD v4 |
15 | g.89333289A>T | CA393771503 | POLG,POLGARF | c.466T>A (p.Leu156Met) c.521T>A (p.Leu174His) c.67T>A (p.Leu23Met) c.123T>A n.664T>A | |
15 | g.89333290G>A | CA492289956 | POLG,POLGARF | c.465C>T (p.Asn155=) c.520C>T (p.Leu174Phe) c.66C>T (p.Asn22=) c.122C>T n.663C>T | |
15 | g.89333290G>C | CA393771511 | POLG,POLGARF | c.465C>G (p.Asn155Lys) c.520C>G (p.Leu174Val) c.66C>G (p.Asn22Lys) c.122C>G n.663C>G | gnomAD v4 |
15 | g.89333290G>T | CA393771514 | POLG,POLGARF | c.465C>A (p.Asn155Lys) c.520C>A (p.Leu174Ile) c.66C>A (p.Asn22Lys) c.122C>A n.663C>A | |
15 | g.89333291T>A | CA393771515 | POLG,POLGARF | c.464A>T (p.Asn155Ile) c.519A>T (p.Gln173His) c.65A>T (p.Asn22Ile) c.121A>T n.662A>T | |
15 | g.89333291T>C | CA393771517 | POLG,POLGARF | c.464A>G (p.Asn155Ser) c.519A>G (p.Gln173=) c.65A>G (p.Asn22Ser) c.121A>G n.662A>G | |
15 | g.89333291T>G | CA393771516 | POLG,POLGARF | c.464A>C (p.Asn155Thr) c.519A>C (p.Gln173His) c.65A>C (p.Asn22Thr) c.121A>C n.662A>C | |
15 | g.89333292T>A | CA393771521 | POLG,POLGARF | c.463A>T (p.Asn155Tyr) c.518A>T (p.Gln173Leu) c.64A>T (p.Asn22Tyr) c.120A>T n.661A>T | |
15 | g.89333292T>C | CA393771522 | POLG,POLGARF | c.463A>G (p.Asn155Asp) c.518A>G (p.Gln173Arg) c.64A>G (p.Asn22Asp) c.120A>G n.661A>G | |
15 | g.89333292T>G | CA393771525 | POLG,POLGARF | c.463A>C (p.Asn155His) c.518A>C (p.Gln173Pro) c.64A>C (p.Asn22His) c.120A>C n.661A>C | |
15 | g.89333293G>A | CA274565913 | POLG,POLGARF | c.462C>T (p.Ala154=) c.517C>T (p.Gln173Ter) c.63C>T (p.Ala21=) c.119C>T n.660C>T | dbSNP gnomAD v4 |
15 | g.89333293G>C | CA492289959 | POLG,POLGARF | c.462C>G (p.Ala154=) c.517C>G (p.Gln173Glu) c.63C>G (p.Ala21=) c.119C>G n.660C>G | |
15 | g.89333293G= | CA2194572063 | POLG,POLGARF | c.462C= (p.Ala154=) c.517C= (p.Gln173=) c.63C= (p.Ala21=) c.119C= n.660C= | |
15 | g.89333293G>T | CA492289958 | POLG,POLGARF | c.462C>A (p.Ala154=) c.517C>A (p.Gln173Lys) c.63C>A (p.Ala21=) c.119C>A n.660C>A | gnomAD v4 |
15 | g.89333294G>A | CA393771530 | POLG,POLGARF | c.461C>T (p.Ala154Val) c.516C>T (p.Gly172=) c.62C>T (p.Ala21Val) c.118C>T n.659C>T | gnomAD v4 |
15 | g.89333294G>C | CA393771534 | POLG,POLGARF | c.461C>G (p.Ala154Gly) c.516C>G (p.Gly172=) c.62C>G (p.Ala21Gly) c.118C>G n.659C>G | |
15 | g.89333294G>T | CA393771537 | POLG,POLGARF | c.461C>A (p.Ala154Asp) c.516C>A (p.Gly172=) c.62C>A (p.Ala21Asp) c.118C>A n.659C>A | gnomAD v4 |
15 | g.89333295C>A | CA393771546 | POLG,POLGARF | c.460G>T (p.Ala154Ser) c.515G>T (p.Gly172Val) c.61G>T (p.Ala21Ser) c.117G>T n.658G>T | gnomAD v4 |
15 | g.89333295C= | CA2194572070 | POLG,POLGARF | c.460G= (p.Ala154=) c.515G= (p.Gly172=) c.61G= (p.Ala21=) c.117G= n.658G= | |
15 | g.89333295C>G | CA393771549 | POLG,POLGARF | c.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 |
15 | g.89333295C>T | CA316800 | POLG,POLGARF | c.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 |
15 | g.89333296C>A | CA492289963 | POLG,POLGARF | c.459G>T (p.Ala153=) c.514G>T (p.Gly172Cys) c.60G>T (p.Ala20=) c.116G>T n.657G>T | gnomAD v4 |
15 | g.89333296C>G | CA492289964 | POLG,POLGARF | c.459G>C (p.Ala153=) c.514G>C (p.Gly172Arg) c.60G>C (p.Ala20=) c.116G>C n.657G>C | gnomAD v4 |
15 | g.89333296C>T | CA492289965 | POLG,POLGARF | c.459G>A (p.Ala153=) c.514G>A (p.Gly172Ser) c.60G>A (p.Ala20=) c.116G>A n.657G>A | ClinVar gnomAD v4 |
15 | g.89333297G>A | CA393771559 | POLG,POLGARF | c.458C>T (p.Ala153Val) c.513C>T (p.Gly171=) c.59C>T (p.Ala20Val) c.115C>T n.656C>T | ClinVar gnomAD v4 |
15 | g.89333297G>C | CA393771563 | POLG,POLGARF | c.458C>G (p.Ala153Gly) c.513C>G (p.Gly171=) c.59C>G (p.Ala20Gly) c.115C>G n.656C>G | gnomAD v4 |
15 | g.89333297G>T | CA393771568 | POLG,POLGARF | c.458C>A (p.Ala153Glu) c.513C>A (p.Gly171=) c.59C>A (p.Ala20Glu) c.115C>A n.656C>A | gnomAD v4 |
15 | g.89333298C>A | CA393771579 | POLG,POLGARF | c.457G>T (p.Ala153Ser) c.512G>T (p.Gly171Val) c.58G>T (p.Ala20Ser) c.114G>T n.655G>T | gnomAD v4 |
15 | g.89333298C>G | CA393771572 | POLG,POLGARF | c.457G>C (p.Ala153Pro) c.512G>C (p.Gly171Ala) c.58G>C (p.Ala20Pro) c.114G>C n.655G>C | |
15 | g.89333298C>T | CA393771576 | POLG,POLGARF | c.457G>A (p.Ala153Thr) c.512G>A (p.Gly171Asp) c.58G>A (p.Ala20Thr) c.114G>A n.655G>A | |
15 | g.89333299C>A | CA393771582 | POLG,POLGARF | c.456G>T (p.Glu152Asp) c.511G>T (p.Gly171Cys) c.57G>T (p.Glu19Asp) c.113G>T n.654G>T | gnomAD v4 |
15 | g.89333299C>G | CA393771587 | POLG,POLGARF | c.456G>C (p.Glu152Asp) c.511G>C (p.Gly171Arg) c.57G>C (p.Glu19Asp) c.113G>C n.654G>C | |
15 | g.89333299C>T | CA492289966 | POLG,POLGARF | c.456G>A (p.Glu152=) c.511G>A (p.Gly171Ser) c.57G>A (p.Glu19=) c.113G>A n.654G>A | ClinVar gnomAD v4 |
15 | g.89333300T>A | CA393771592 | POLG,POLGARF | c.455A>T (p.Glu152Val) c.510A>T (p.Gly170=) c.56A>T (p.Glu19Val) c.112A>T n.653A>T | |
15 | g.89333300T>C | CA393771593 | POLG,POLGARF | c.455A>G (p.Glu152Gly) c.510A>G (p.Gly170=) c.56A>G (p.Glu19Gly) c.112A>G n.653A>G | gnomAD v4 |
15 | g.89333300T>G | CA393771595 | POLG,POLGARF | c.455A>C (p.Glu152Ala) c.510A>C (p.Gly170=) c.56A>C (p.Glu19Ala) c.112A>C n.653A>C | |
15 | g.89333301C>A | CA393771613 | POLG,POLGARF | c.454G>T (p.Glu152Ter) c.509G>T (p.Gly170Val) c.55G>T (p.Glu19Ter) c.111G>T n.652G>T | gnomAD v4 |
15 | g.89333301C>G | CA393771618 | POLG,POLGARF | c.454G>C (p.Glu152Gln) c.509G>C (p.Gly170Ala) c.55G>C (p.Glu19Gln) c.111G>C n.652G>C | |
15 | g.89333301C>T | CA393771621 | POLG,POLGARF | c.454G>A (p.Glu152Lys) c.509G>A (p.Gly170Glu) c.55G>A (p.Glu19Lys) c.111G>A n.652G>A | gnomAD v4 |
15 | g.89333302dup | CA2843304764 | POLG,POLGARF | c.454dup (p.Glu152GlyfsTer?) c.509dup (p.Gly171ArgfsTer?) c.55dup (p.Glu19GlyfsTer?) c.111dup n.652dup | |
15 | g.89333302C>A | CA492289968 | POLG,POLGARF | c.453G>T (p.Leu151=) c.508G>T (p.Gly170Ter) c.54G>T (p.Leu18=) c.110G>T n.651G>T | gnomAD v4 |
15 | g.89333302C= | CA2194572075 | POLG,POLGARF | c.453G= (p.Leu151=) c.508G= (p.Gly170=) c.54G= (p.Leu18=) c.110G= n.651G= | |
15 | g.89333302C>G | CA492289969 | POLG,POLGARF | c.453G>C (p.Leu151=) c.508G>C (p.Gly170Arg) c.54G>C (p.Leu18=) c.110G>C n.651G>C | |
15 | g.89333302C>T | CA7725110 | POLG,POLGARF | c.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 |
15 | g.89333303A= | CA2194572085 | POLG,POLGARF | c.452T= (p.Leu151=) c.507T= (p.Pro169=) c.53T= (p.Leu18=) c.109T= n.650T= | |
15 | g.89333303A>C | CA393771630 | POLG,POLGARF | c.452T>G (p.Leu151Arg) c.507T>G (p.Pro169=) c.53T>G (p.Leu18Arg) c.109T>G n.650T>G | ClinVar |
15 | g.89333303A>G | CA7725111 | POLG,POLGARF | c.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 |
15 | g.89333303A>T | CA393771635 | POLG,POLGARF | c.452T>A (p.Leu151Gln) c.507T>A (p.Pro169=) c.53T>A (p.Leu18Gln) c.109T>A n.650T>A | |
15 | g.89333304G>A | CA492289970 | POLG,POLGARF | c.451C>T (p.Leu151=) c.506C>T (p.Pro169Leu) c.52C>T (p.Leu18=) c.108C>T n.649C>T | ClinVar |
15 | g.89333304G>C | CA7725112 | POLG,POLGARF | c.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 |
15 | g.89333304G= | CA2194572088 | POLG,POLGARF | c.451C= (p.Leu151=) c.506C= (p.Pro169=) c.52C= (p.Leu18=) c.108C= n.649C= | |
15 | g.89333304G>T | CA393771639 | POLG,POLGARF | c.451C>A (p.Leu151Met) c.506C>A (p.Pro169His) c.52C>A (p.Leu18Met) c.108C>A n.649C>A | |
15 | g.89333305G>A | CA492289973 | POLG,POLGARF | c.450C>T (p.Tyr150=) c.505C>T (p.Pro169Ser) c.51C>T (p.Tyr17=) c.107C>T n.648C>T | ClinVar |
15 | g.89333305G>C | CA393771642 | POLG,POLGARF | c.450C>G (p.Tyr150Ter) c.505C>G (p.Pro169Ala) c.51C>G (p.Tyr17Ter) c.107C>G n.648C>G | |
15 | g.89333305G>T | CA393771648 | POLG,POLGARF | c.450C>A (p.Tyr150Ter) c.505C>A (p.Pro169Thr) c.51C>A (p.Tyr17Ter) c.107C>A n.648C>A | gnomAD v4 |
15 | g.89333306T>A | CA393771651 | POLG,POLGARF | c.449A>T (p.Tyr150Phe) c.504A>T (p.Leu168=) c.50A>T (p.Tyr17Phe) c.106A>T n.647A>T | ClinVar gnomAD v4 |
15 | g.89333306T>C | CA393771654 | POLG,POLGARF | c.449A>G (p.Tyr150Cys) c.504A>G (p.Leu168=) c.50A>G (p.Tyr17Cys) c.106A>G n.647A>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333306T>G | CA393771656 | POLG,POLGARF | c.449A>C (p.Tyr150Ser) c.504A>C (p.Leu168=) c.50A>C (p.Tyr17Ser) c.106A>C n.647A>C | |
15 | g.89333306T= | CA2194572092 | POLG,POLGARF | c.449A= (p.Tyr150=) c.504A= (p.Leu168=) c.50A= (p.Tyr17=) c.106A= n.647A= | |
15 | g.89333307A>C | CA393771660 | POLG,POLGARF | c.448T>G (p.Tyr150Asp) c.503T>G (p.Leu168Arg) c.49T>G (p.Tyr17Asp) c.105T>G n.646T>G | |
15 | g.89333307A>G | CA393771662 | POLG,POLGARF | c.448T>C (p.Tyr150His) c.503T>C (p.Leu168Pro) c.49T>C (p.Tyr17His) c.105T>C n.646T>C | |
15 | g.89333307A>T | CA393771670 | POLG,POLGARF | c.448T>A (p.Tyr150Asn) c.503T>A (p.Leu168Gln) c.49T>A (p.Tyr17Asn) c.105T>A n.646T>A | |
15 | g.89333308G>A | CA492289975 | POLG,POLGARF | c.447C>T (p.Pro149=) c.502C>T (p.Leu168=) c.48C>T (p.Pro16=) c.104C>T n.645C>T | gnomAD v4 |
15 | g.89333308G>C | CA492289976 | POLG,POLGARF | c.447C>G (p.Pro149=) c.502C>G (p.Leu168Val) c.48C>G (p.Pro16=) c.104C>G n.645C>G | gnomAD v4 |
15 | g.89333308G>T | CA492289977 | POLG,POLGARF | c.447C>A (p.Pro149=) c.502C>A (p.Leu168Ile) c.48C>A (p.Pro16=) c.104C>A n.645C>A | gnomAD v4 |
15 | g.89333309G>A | CA393771672 | POLG,POLGARF | c.446C>T (p.Pro149Leu) c.501C>T (p.Ala167=) c.47C>T (p.Pro16Leu) c.103C>T n.644C>T | |
15 | g.89333309G>C | CA393771673 | POLG,POLGARF | c.446C>G (p.Pro149Arg) c.501C>G (p.Ala167=) c.47C>G (p.Pro16Arg) c.103C>G n.644C>G | gnomAD v4 |
15 | g.89333309G>T | CA393771674 | POLG,POLGARF | c.446C>A (p.Pro149His) c.501C>A (p.Ala167=) c.47C>A (p.Pro16His) c.103C>A n.644C>A | gnomAD v4 |
15 | g.89333310G>A | CA393771676 | POLG,POLGARF | c.445C>T (p.Pro149Ser) c.500C>T (p.Ala167Val) c.46C>T (p.Pro16Ser) c.102C>T n.643C>T | gnomAD v4 |
15 | g.89333310G>C | CA393771677 | POLG,POLGARF | c.445C>G (p.Pro149Ala) c.500C>G (p.Ala167Gly) c.46C>G (p.Pro16Ala) c.102C>G n.643C>G | |
15 | g.89333310G>T | CA393771685 | POLG,POLGARF | c.445C>A (p.Pro149Thr) c.500C>A (p.Ala167Asp) c.46C>A (p.Pro16Thr) c.102C>A n.643C>A | gnomAD v4 |
15 | g.89333311C>A | CA492289978 | POLG,POLGARF | c.444G>T (p.Leu148=) c.499G>T (p.Ala167Ser) c.45G>T (p.Leu15=) c.101G>T n.642G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333311C>G | CA492289979 | POLG,POLGARF | c.444G>C (p.Leu148=) c.499G>C (p.Ala167Pro) c.45G>C (p.Leu15=) c.101G>C n.642G>C | |
15 | g.89333311C>T | CA492289980 | POLG,POLGARF | c.444G>A (p.Leu148=) c.499G>A (p.Ala167Thr) c.45G>A (p.Leu15=) c.101G>A n.642G>A | gnomAD v4 |
15 | g.89333312A= | CA2194572095 | POLG,POLGARF | c.443T= (p.Leu148=) c.498T= (p.Pro166=) c.44T= (p.Leu15=) c.100T= n.641T= | |
15 | g.89333312A>C | CA393771694 | POLG,POLGARF | c.443T>G (p.Leu148Arg) c.498T>G (p.Pro166=) c.44T>G (p.Leu15Arg) c.100T>G n.641T>G | |
15 | g.89333312A>G | CA393771706 | POLG,POLGARF | c.443T>C (p.Leu148Pro) c.498T>C (p.Pro166=) c.44T>C (p.Leu15Pro) c.100T>C n.641T>C | gnomAD v4 |
15 | g.89333312A>T | CA10602289 | POLG,POLGARF | c.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 |
15 | g.89333313G>A | CA492289981 | POLG,POLGARF | c.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 |
15 | g.89333313G>C | CA393771707 | POLG,POLGARF | c.442C>G (p.Leu148Val) c.497C>G (p.Pro166Arg) c.43C>G (p.Leu15Val) c.99C>G n.640C>G | |
15 | g.89333313G= | CA2194572097 | POLG,POLGARF | c.442C= (p.Leu148=) c.497C= (p.Pro166=) c.43C= (p.Leu15=) c.99C= n.640C= | |
15 | g.89333313G>T | CA393771716 | POLG,POLGARF | c.442C>A (p.Leu148Met) c.497C>A (p.Pro166His) c.43C>A (p.Leu15Met) c.99C>A n.640C>A | gnomAD v4 |
15 | g.89333314G>A | CA492289982 | POLG,POLGARF | c.441C>T (p.Ser147=) c.496C>T (p.Pro166Ser) c.42C>T (p.Ser14=) c.98C>T n.639C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333314G>C | CA393771721 | POLG,POLGARF | c.441C>G (p.Ser147Arg) c.496C>G (p.Pro166Ala) c.42C>G (p.Ser14Arg) c.98C>G n.639C>G | |
15 | g.89333314G>T | CA393771724 | POLG,POLGARF | c.441C>A (p.Ser147Arg) c.496C>A (p.Pro166Thr) c.42C>A (p.Ser14Arg) c.98C>A n.639C>A | gnomAD v4 |
15 | g.89333315C>A | CA274565927 | POLG,POLGARF | c.440G>T (p.Ser147Ile) c.495G>T (p.Glu165Asp) c.41G>T (p.Ser14Ile) c.97G>T n.638G>T | dbSNP gnomAD v4 |
15 | g.89333315C= | CA2194572098 | POLG,POLGARF | c.440G= (p.Ser147=) c.495G= (p.Glu165=) c.41G= (p.Ser14=) c.97G= n.638G= | |
15 | g.89333315C>G | CA393771732 | POLG,POLGARF | c.440G>C (p.Ser147Thr) c.495G>C (p.Glu165Asp) c.41G>C (p.Ser14Thr) c.97G>C n.638G>C | |
15 | g.89333315C>T | CA393771736 | POLG,POLGARF | c.440G>A (p.Ser147Asn) c.495G>A (p.Glu165=) c.41G>A (p.Ser14Asn) c.97G>A n.638G>A | dbSNP gnomAD v4 |
15 | g.89333316T>A | CA393771740 | POLG,POLGARF | c.439A>T (p.Ser147Cys) c.494A>T (p.Glu165Val) c.40A>T (p.Ser14Cys) c.96A>T n.637A>T | ClinVar gnomAD v4 |
15 | g.89333316T>C | CA7725113 | POLG,POLGARF | c.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 |
15 | g.89333316T>G | CA393771750 | POLG,POLGARF | c.439A>C (p.Ser147Arg) c.494A>C (p.Glu165Ala) c.40A>C (p.Ser14Arg) c.96A>C n.637A>C | gnomAD v4 |
15 | g.89333316T= | CA2194572100 | POLG,POLGARF | c.439A= (p.Ser147=) c.494A= (p.Glu165=) c.40A= (p.Ser14=) c.96A= n.637A= | |
15 | g.89333317C>A | CA393771755 | POLG,POLGARF | c.438G>T (p.Gln146His) c.493G>T (p.Glu165Ter) c.39G>T (p.Gln13His) c.95G>T n.636G>T | gnomAD v4 |
15 | g.89333317C>G | CA393771760 | POLG,POLGARF | c.438G>C (p.Gln146His) c.493G>C (p.Glu165Gln) c.39G>C (p.Gln13His) c.95G>C n.636G>C | ClinVar |
15 | g.89333317C>T | CA492289986 | POLG,POLGARF | c.438G>A (p.Gln146=) c.493G>A (p.Glu165Lys) c.39G>A (p.Gln13=) c.95G>A n.636G>A | |
15 | g.89333318T>A | CA393771764 | POLG,POLGARF | c.437A>T (p.Gln146Leu) c.492A>T (p.Ala164=) c.38A>T (p.Gln13Leu) c.94A>T n.635A>T | |
15 | g.89333318T>C | CA393771765 | POLG,POLGARF | c.437A>G (p.Gln146Arg) c.492A>G (p.Ala164=) c.38A>G (p.Gln13Arg) c.94A>G n.635A>G | |
15 | g.89333318T>G | CA393771768 | POLG,POLGARF | c.437A>C (p.Gln146Pro) c.492A>C (p.Ala164=) c.38A>C (p.Gln13Pro) c.94A>C n.635A>C | |
15 | g.89333319G>A | CA393771773 | POLG,POLGARF | c.436C>T (p.Gln146Ter) c.491C>T (p.Ala164Val) c.37C>T (p.Gln13Ter) c.93C>T n.634C>T | gnomAD v4 |
15 | g.89333319G>C | CA393771782 | POLG,POLGARF | c.436C>G (p.Gln146Glu) c.491C>G (p.Ala164Gly) c.37C>G (p.Gln13Glu) c.93C>G n.634C>G | |
15 | g.89333319G>T | CA393771776 | POLG,POLGARF | c.436C>A (p.Gln146Lys) c.491C>A (p.Ala164Glu) c.37C>A (p.Gln13Lys) c.93C>A n.634C>A | gnomAD v4 |
15 | g.89333320C>A | CA393771787 | POLG,POLGARF | c.435G>T (p.Lys145Asn) c.490G>T (p.Ala164Ser) c.36G>T (p.Lys12Asn) c.92G>T n.633G>T | gnomAD v4 |
15 | g.89333320C>G | CA393771789 | POLG,POLGARF | c.435G>C (p.Lys145Asn) c.490G>C (p.Ala164Pro) c.36G>C (p.Lys12Asn) c.92G>C n.633G>C | |
15 | g.89333320C>T | CA492289989 | POLG,POLGARF | c.435G>A (p.Lys145=) c.490G>A (p.Ala164Thr) c.36G>A (p.Lys12=) c.92G>A n.633G>A | ClinVar dbSNP gnomAD v4 |
15 | g.89333321T>A | CA393771792 | POLG,POLGARF | c.434A>T (p.Lys145Met) c.489A>T (p.Glu163Asp) c.35A>T (p.Lys12Met) c.91A>T n.632A>T | |
15 | g.89333321T>C | CA393771793 | POLG,POLGARF | c.434A>G (p.Lys145Arg) c.489A>G (p.Glu163=) c.35A>G (p.Lys12Arg) c.91A>G n.632A>G | ClinVar gnomAD v4 |
15 | g.89333321T>G | CA393771794 | POLG,POLGARF | c.434A>C (p.Lys145Thr) c.489A>C (p.Glu163Asp) c.35A>C (p.Lys12Thr) c.91A>C n.632A>C | |
15 | g.89333322T>A | CA393771795 | POLG,POLGARF | c.433A>T (p.Lys145Ter) c.488A>T (p.Glu163Val) c.34A>T (p.Lys12Ter) c.90A>T n.631A>T | |
15 | g.89333322T>C | CA393771797 | POLG,POLGARF | c.433A>G (p.Lys145Glu) c.488A>G (p.Glu163Gly) c.34A>G (p.Lys12Glu) c.90A>G n.631A>G | |
15 | g.89333322T>G | CA393771801 | POLG,POLGARF | c.433A>C (p.Lys145Gln) c.488A>C (p.Glu163Ala) c.34A>C (p.Lys12Gln) c.90A>C n.631A>C | |
15 | g.89333323C>A | CA393771806 | POLG,POLGARF | c.432G>T (p.Gln144His) c.487G>T (p.Glu163Ter) c.33G>T (p.Gln11His) c.89G>T n.630G>T | gnomAD v4 |
15 | g.89333323C>G | CA393771809 | POLG,POLGARF | c.432G>C (p.Gln144His) c.487G>C (p.Glu163Gln) c.33G>C (p.Gln11His) c.89G>C n.630G>C | |
15 | g.89333323C>T | CA492289990 | POLG,POLGARF | c.432G>A (p.Gln144=) c.487G>A (p.Glu163Lys) c.33G>A (p.Gln11=) c.89G>A n.630G>A | |
15 | g.89333324T>A | CA393771817 | POLG,POLGARF | c.431A>T (p.Gln144Leu) c.486A>T (p.Pro162=) c.32A>T (p.Gln11Leu) c.88A>T n.629A>T | |
15 | g.89333324T>C | CA10602288 | POLG,POLGARF | c.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 |
15 | g.89333324T>G | CA393771813 | POLG,POLGARF | c.431A>C (p.Gln144Pro) c.486A>C (p.Pro162=) c.32A>C (p.Gln11Pro) c.88A>C n.629A>C | |
15 | g.89333324T= | CA2194572106 | POLG,POLGARF | c.431A= (p.Gln144=) c.486A= (p.Pro162=) c.32A= (p.Gln11=) c.88A= n.629A= | |
15 | g.89333325G>A | CA393771821 | POLG,POLGARF | c.430C>T (p.Gln144Ter) c.485C>T (p.Pro162Leu) c.31C>T (p.Gln11Ter) c.87C>T n.628C>T | |
15 | g.89333325G>C | CA393771822 | POLG,POLGARF | c.430C>G (p.Gln144Glu) c.485C>G (p.Pro162Arg) c.31C>G (p.Gln11Glu) c.87C>G n.628C>G | ClinVar dbSNP gnomAD v4 |
15 | g.89333325G>T | CA393771823 | POLG,POLGARF | c.430C>A (p.Gln144Lys) c.485C>A (p.Pro162Gln) c.31C>A (p.Gln11Lys) c.87C>A n.628C>A | gnomAD v4 |
15 | g.89333326G>A | CA492289991 | POLG,POLGARF | c.429C>T (p.Ala143=) c.484C>T (p.Pro162Ser) c.30C>T (p.Ala10=) c.86C>T n.627C>T | gnomAD v4 |
15 | g.89333326G>C | CA492289992 | POLG,POLGARF | c.429C>G (p.Ala143=) c.484C>G (p.Pro162Ala) c.30C>G (p.Ala10=) c.86C>G n.627C>G | |
15 | g.89333326G>T | CA492289993 | POLG,POLGARF | c.429C>A (p.Ala143=) c.484C>A (p.Pro162Thr) c.30C>A (p.Ala10=) c.86C>A n.627C>A | gnomAD v4 |
15 | g.89333327G>A | CA316798 | POLG,POLGARF | c.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 |
15 | g.89333327G>C | CA393771827 | POLG,POLGARF | c.428C>G (p.Ala143Gly) c.483C>G (p.Gly161=) c.29C>G (p.Ala10Gly) c.85C>G n.626C>G | |
15 | g.89333327G= | CA2194572118 | POLG,POLGARF | c.428C= (p.Ala143=) c.483C= (p.Gly161=) c.29C= (p.Ala10=) c.85C= n.626C= | |
15 | g.89333327G>T | CA393771834 | POLG,POLGARF | c.428C>A (p.Ala143Asp) c.483C>A (p.Gly161=) c.29C>A (p.Ala10Asp) c.85C>A n.626C>A | gnomAD v4 |
15 | g.89333328C>A | CA393771838 | POLG,POLGARF | c.427G>T (p.Ala143Ser) c.482G>T (p.Gly161Val) c.28G>T (p.Ala10Ser) c.84G>T n.625G>T | gnomAD v4 |
15 | g.89333328C= | CA2194572123 | POLG,POLGARF | c.427G= (p.Ala143=) c.482G= (p.Gly161=) c.28G= (p.Ala10=) c.84G= n.625G= | |
15 | g.89333328C>G | CA393771841 | POLG,POLGARF | c.427G>C (p.Ala143Pro) c.482G>C (p.Gly161Ala) c.28G>C (p.Ala10Pro) c.84G>C n.625G>C | |
15 | g.89333328C>T | CA393771844 | POLG,POLGARF | c.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 |
15 | g.89333329C>A | CA492289994 | POLG,POLGARF | c.426G>T (p.Leu142=) c.481G>T (p.Gly161Cys) c.27G>T (p.Leu9=) c.83G>T n.624G>T | gnomAD v4 |
15 | g.89333329C>G | CA492289996 | POLG,POLGARF | c.426G>C (p.Leu142=) c.481G>C (p.Gly161Arg) c.27G>C (p.Leu9=) c.83G>C n.624G>C | gnomAD v4 |
15 | g.89333329C>T | CA492289998 | POLG,POLGARF | c.426G>A (p.Leu142=) c.481G>A (p.Gly161Ser) c.27G>A (p.Leu9=) c.83G>A n.624G>A | gnomAD v4 |
15 | g.89333330A= | CA2194572130 | POLG,POLGARF | c.425T= (p.Leu142=) c.480T= (p.Pro160=) c.26T= (p.Leu9=) c.82T= n.623T= | |
15 | g.89333330A>C | CA393771847 | POLG,POLGARF | c.425T>G (p.Leu142Arg) c.480T>G (p.Pro160=) c.26T>G (p.Leu9Arg) c.82T>G n.623T>G | |
15 | g.89333330A>G | CA16621678 | POLG,POLGARF | c.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 |
15 | g.89333330A>T | CA393771851 | POLG,POLGARF | c.425T>A (p.Leu142Gln) c.480T>A (p.Pro160=) c.26T>A (p.Leu9Gln) c.82T>A n.623T>A | gnomAD v4 |
15 | g.89333331G>A | CA492290000 | POLG,POLGARF | c.424C>T (p.Leu142=) c.479C>T (p.Pro160Leu) c.25C>T (p.Leu9=) c.81C>T n.622C>T | gnomAD v4 |
15 | g.89333331G>C | CA393771855 | POLG,POLGARF | c.424C>G (p.Leu142Val) c.479C>G (p.Pro160Arg) c.25C>G (p.Leu9Val) c.81C>G n.622C>G | |
15 | g.89333331G>T | CA393771853 | POLG,POLGARF | c.424C>A (p.Leu142Met) c.479C>A (p.Pro160His) c.25C>A (p.Leu9Met) c.81C>A n.622C>A | gnomAD v4 |
15 | g.89333332G>A | CA7725114 | POLG,POLGARF | c.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 |
15 | g.89333332G>C | CA492290002 | POLG,POLGARF | c.423C>G (p.Leu141=) c.478C>G (p.Pro160Ala) c.24C>G (p.Leu8=) c.80C>G n.621C>G | |
15 | g.89333332G= | CA2194572145 | POLG,POLGARF | c.423C= (p.Leu141=) c.478C= (p.Pro160=) c.24C= (p.Leu8=) c.80C= n.621C= | |
15 | g.89333332G>T | CA492290004 | POLG,POLGARF | c.423C>A (p.Leu141=) c.478C>A (p.Pro160Thr) c.24C>A (p.Leu8=) c.80C>A n.621C>A | gnomAD v4 |
15 | g.89333333A= | CA2194572151 | POLG,POLGARF | c.422T= (p.Leu141=) c.477T= (p.Pro159=) c.23T= (p.Leu8=) c.79T= n.620T= | |
15 | g.89333333A>C | CA393771861 | POLG,POLGARF | c.422T>G (p.Leu141Arg) c.477T>G (p.Pro159=) c.23T>G (p.Leu8Arg) c.79T>G n.620T>G | |
15 | g.89333333A>G | CA393771862 | POLG,POLGARF | c.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 |
15 | g.89333333A>T | CA393771865 | POLG,POLGARF | c.422T>A (p.Leu141His) c.477T>A (p.Pro159=) c.23T>A (p.Leu8His) c.79T>A n.620T>A | gnomAD v4 |
15 | g.89333334G>A | CA393771875 | POLG,POLGARF | c.421C>T (p.Leu141Phe) c.476C>T (p.Pro159Leu) c.22C>T (p.Leu8Phe) c.78C>T n.619C>T | ClinVar gnomAD v4 |
15 | g.89333334G>C | CA393771878 | POLG,POLGARF | c.421C>G (p.Leu141Val) c.476C>G (p.Pro159Arg) c.22C>G (p.Leu8Val) c.78C>G n.619C>G | |
15 | g.89333334G>T | CA393771881 | POLG,POLGARF | c.421C>A (p.Leu141Ile) c.476C>A (p.Pro159His) c.22C>A (p.Leu8Ile) c.78C>A n.619C>A | gnomAD v4 |
15 | g.89333335G>A | CA492290006 | POLG,POLGARF | c.420C>T (p.Arg140=) c.475C>T (p.Pro159Ser) c.21C>T (p.Arg7=) c.77C>T n.618C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333335G>C | CA492290007 | POLG,POLGARF | c.420C>G (p.Arg140=) c.475C>G (p.Pro159Ala) c.21C>G (p.Arg7=) c.77C>G n.618C>G | |
15 | g.89333335G= | CA2194572156 | POLG,POLGARF | c.420C= (p.Arg140=) c.475C= (p.Pro159=) c.21C= (p.Arg7=) c.77C= n.618C= | |
15 | g.89333335G>T | CA492290008 | POLG,POLGARF | c.420C>A (p.Arg140=) c.475C>A (p.Pro159Thr) c.21C>A (p.Arg7=) c.77C>A n.618C>A | gnomAD v4 |
15 | g.89333336C>A | CA7725116 | POLG,POLGARF | c.419G>T (p.Arg140Leu) c.474G>T (p.Pro158=) c.20G>T (p.Arg7Leu) c.76G>T n.617G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333336C= | CA2194572165 | POLG,POLGARF | c.419G= (p.Arg140=) c.474G= (p.Pro158=) c.20G= (p.Arg7=) c.76G= n.617G= | |
15 | g.89333336C>G | CA393771882 | POLG,POLGARF | c.419G>C (p.Arg140Pro) c.474G>C (p.Pro158=) c.20G>C (p.Arg7Pro) c.76G>C n.617G>C | gnomAD v4 |
15 | g.89333336C>T | CA7725115 | POLG,POLGARF | c.419G>A (p.Arg140His) c.474G>A (p.Pro158=) c.20G>A (p.Arg7His) c.76G>A n.617G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.89333337G>A | CA316881 | POLG,POLGARF | c.418C>T (p.Arg140Cys) c.473C>T (p.Pro158Leu) c.19C>T (p.Arg7Cys) c.75C>T n.616C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333337G>C | CA393771886 | POLG,POLGARF | c.418C>G (p.Arg140Gly) c.473C>G (p.Pro158Arg) c.19C>G (p.Arg7Gly) c.75C>G n.616C>G | |
15 | g.89333337G= | CA2194572177 | POLG,POLGARF | c.418C= (p.Arg140=) c.473C= (p.Pro158=) c.19C= (p.Arg7=) c.75C= n.616C= | |
15 | g.89333337G>T | CA274565964 | POLG,POLGARF | c.418C>A (p.Arg140Ser) c.473C>A (p.Pro158Gln) c.19C>A (p.Arg7Ser) c.75C>A n.616C>A | dbSNP gnomAD v4 |
15 | g.89333338G>A | CA492290009 | POLG,POLGARF | c.417C>T (p.Phe139=) c.472C>T (p.Pro158Ser) c.18C>T (p.Phe6=) c.74C>T n.615C>T | gnomAD v4 |
15 | g.89333338G>C | CA393771892 | POLG,POLGARF | c.417C>G (p.Phe139Leu) c.472C>G (p.Pro158Ala) c.18C>G (p.Phe6Leu) c.74C>G n.615C>G | |
15 | g.89333338G>T | CA393771897 | POLG,POLGARF | c.417C>A (p.Phe139Leu) c.472C>A (p.Pro158Thr) c.18C>A (p.Phe6Leu) c.74C>A n.615C>A | gnomAD v4 |
15 | g.89333339A>C | CA393771901 | POLG,POLGARF | c.416T>G (p.Phe139Cys) c.471T>G (p.Leu157=) c.17T>G (p.Phe6Cys) c.73T>G n.614T>G | ClinVar dbSNP |
15 | g.89333339A>G | CA393771905 | POLG,POLGARF | c.416T>C (p.Phe139Ser) c.471T>C (p.Leu157=) c.17T>C (p.Phe6Ser) c.73T>C n.614T>C | |
15 | g.89333339A>T | CA393771904 | POLG,POLGARF | c.416T>A (p.Phe139Tyr) c.471T>A (p.Leu157=) c.17T>A (p.Phe6Tyr) c.73T>A n.614T>A | |
15 | g.89333340A>C | CA393771906 | POLG,POLGARF | c.415T>G (p.Phe139Val) c.470T>G (p.Leu157Arg) c.16T>G (p.Phe6Val) c.72T>G n.613T>G | |
15 | g.89333340A>G | CA393771909 | POLG,POLGARF | c.415T>C (p.Phe139Leu) c.470T>C (p.Leu157Pro) c.16T>C (p.Phe6Leu) c.72T>C n.613T>C | |
15 | g.89333340A>T | CA393771907 | POLG,POLGARF | c.415T>A (p.Phe139Ile) c.470T>A (p.Leu157His) c.16T>A (p.Phe6Ile) c.72T>A n.613T>A |