| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89333099_89333204del | CA2580090382 | POLG,POLGARF | c.552_657del (p.Val185GlyfsTer?) c.607_712del (p.Arg203TrpfsTer?) c.153_258del (p.Val52GlyfsTer?) c.209_314del n.750_855del c.552_657del (p.Val185GlyfsTer9) | ClinVar |
| 15 | g.89333119_89333196del | CA2630256922 | POLG,POLGARF | c.567_644del (p.Pro190_Ile215del) c.622_699del (p.Pro208_His233del) c.168_245del (p.Pro57_Ile82del) c.224_301del n.765_842del | gnomAD v4 |
| 15 | g.89333161_89333167del | CA2739269695 | POLG,POLGARF | c.590_596del (p.Phe197TrpfsTer?) c.645_651del (p.Arg216GlufsTer?) c.191_197del (p.Phe64TrpfsTer?) c.247_253del n.788_794del c.590_596del (p.Phe197TrpfsTer30) | ClinVar |
| 15 | g.89333162T>A | CA393770514 | POLG,POLGARF | c.593A>T (p.Asp198Val) c.648A>T (p.Arg216=) c.194A>T (p.Asp65Val) c.250A>T n.791A>T | |
| 15 | g.89333162T>C | CA393770520 | POLG,POLGARF | c.593A>G (p.Asp198Gly) c.648A>G (p.Arg216=) c.194A>G (p.Asp65Gly) c.250A>G n.791A>G | |
| 15 | g.89333162T>G | CA393770523 | POLG,POLGARF | c.593A>C (p.Asp198Ala) c.648A>C (p.Arg216=) c.194A>C (p.Asp65Ala) c.250A>C n.791A>C | |
| 15 | g.89333163C>A | CA393770529 | POLG,POLGARF | c.592G>T (p.Asp198Tyr) c.647G>T (p.Arg216Leu) c.193G>T (p.Asp65Tyr) c.249G>T n.790G>T | gnomAD v4 |
| 15 | g.89333163C>G | CA393770541 | POLG,POLGARF | c.592G>C (p.Asp198His) c.647G>C (p.Arg216Pro) c.193G>C (p.Asp65His) c.249G>C n.790G>C | |
| 15 | g.89333163C>T | CA393770536 | POLG,POLGARF | c.592G>A (p.Asp198Asn) c.647G>A (p.Arg216Gln) c.193G>A (p.Asp65Asn) c.249G>A n.790G>A | gnomAD v4 |
| 15 | g.89333164G>A | CA492289903 | POLG,POLGARF | c.591C>T (p.Phe197=) c.646C>T (p.Arg216Ter) c.192C>T (p.Phe64=) c.248C>T n.789C>T | gnomAD v4 |
| 15 | g.89333164G>C | CA393770545 | POLG,POLGARF | c.591C>G (p.Phe197Leu) c.646C>G (p.Arg216Gly) c.192C>G (p.Phe64Leu) c.248C>G n.789C>G | gnomAD v4 |
| 15 | g.89333164G>T | CA393770548 | POLG,POLGARF | c.591C>A (p.Phe197Leu) c.646C>A (p.Arg216=) c.192C>A (p.Phe64Leu) c.248C>A n.789C>A | ClinVar gnomAD v4 |
| 15 | g.89333165A= | CA2194571534 | POLG,POLGARF | c.590T= (p.Phe197=) c.645T= (p.Val215=) c.191T= (p.Phe64=) c.247T= n.788T= | |
| 15 | g.89333165A>C | CA393770551 | POLG,POLGARF | c.590T>G (p.Phe197Cys) c.645T>G (p.Val215=) c.191T>G (p.Phe64Cys) c.247T>G n.788T>G | |
| 15 | g.89333165A>G | CA7725091 | POLG,POLGARF | c.590T>C (p.Phe197Ser) c.645T>C (p.Val215=) c.191T>C (p.Phe64Ser) c.247T>C n.788T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333165A>T | CA393770552 | POLG,POLGARF | c.590T>A (p.Phe197Tyr) c.645T>A (p.Val215=) c.191T>A (p.Phe64Tyr) c.247T>A n.788T>A | |
| 15 | g.89333166A= | CA2194571538 | POLG,POLGARF | c.589T= (p.Phe197=) c.644T= (p.Val215=) c.190T= (p.Phe64=) c.246T= n.787T= | |
| 15 | g.89333166A>C | CA393770553 | POLG,POLGARF | c.589T>G (p.Phe197Val) c.644T>G (p.Val215Gly) c.190T>G (p.Phe64Val) c.246T>G n.787T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333166A>G | CA393770556 | POLG,POLGARF | c.589T>C (p.Phe197Leu) c.644T>C (p.Val215Ala) c.190T>C (p.Phe64Leu) c.246T>C n.787T>C | gnomAD v4 |
| 15 | g.89333166A>T | CA393770561 | POLG,POLGARF | c.589T>A (p.Phe197Ile) c.644T>A (p.Val215Asp) c.190T>A (p.Phe64Ile) c.246T>A n.787T>A | gnomAD v4 |
| 15 | g.89333167C>A | CA492289904 | POLG,POLGARF | c.588G>T (p.Val196=) c.643G>T (p.Val215Phe) c.189G>T (p.Val63=) c.245G>T n.786G>T | gnomAD v4 |
| 15 | g.89333167C>G | CA492289906 | POLG,POLGARF | c.588G>C (p.Val196=) c.643G>C (p.Val215Leu) c.189G>C (p.Val63=) c.245G>C n.786G>C | ClinVar |
| 15 | g.89333167C>T | CA492289905 | POLG,POLGARF | c.588G>A (p.Val196=) c.643G>A (p.Val215Ile) c.189G>A (p.Val63=) c.245G>A n.786G>A | |
| 15 | g.89333168A>C | CA393770574 | POLG,POLGARF | c.587T>G (p.Val196Gly) c.642T>G (p.Gly214=) c.188T>G (p.Val63Gly) c.244T>G n.785T>G | |
| 15 | g.89333168A>G | CA393770581 | POLG,POLGARF | c.587T>C (p.Val196Ala) c.642T>C (p.Gly214=) c.188T>C (p.Val63Ala) c.244T>C n.785T>C | |
| 15 | g.89333168A>T | CA393770584 | POLG,POLGARF | c.587T>A (p.Val196Glu) c.642T>A (p.Gly214=) c.188T>A (p.Val63Glu) c.244T>A n.785T>A | |
| 15 | g.89333169C>A | CA393770590 | POLG,POLGARF | c.586G>T (p.Val196Leu) c.641G>T (p.Gly214Val) c.187G>T (p.Val63Leu) c.243G>T n.784G>T | gnomAD v4 |
| 15 | g.89333169C>G | CA393770598 | POLG,POLGARF | c.586G>C (p.Val196Leu) c.641G>C (p.Gly214Ala) c.187G>C (p.Val63Leu) c.243G>C n.784G>C | ClinVar dbSNP |
| 15 | g.89333169C>T | CA393770593 | POLG,POLGARF | c.586G>A (p.Val196Met) c.641G>A (p.Gly214Asp) c.187G>A (p.Val63Met) c.243G>A n.784G>A | ClinVar gnomAD v4 |
| 15 | g.89333170C>A | CA492289907 | POLG,POLGARF | c.585G>T (p.Leu195=) c.640G>T (p.Gly214Cys) c.186G>T (p.Leu62=) c.242G>T n.783G>T | gnomAD v4 |
| 15 | g.89333170C= | CA2194571541 | POLG,POLGARF | c.585G= (p.Leu195=) c.640G= (p.Gly214=) c.186G= (p.Leu62=) c.242G= n.783G= | |
| 15 | g.89333170C>G | CA7725092 | POLG,POLGARF | c.585G>C (p.Leu195=) c.640G>C (p.Gly214Arg) c.186G>C (p.Leu62=) c.242G>C n.783G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333170C>T | CA492289908 | POLG,POLGARF | c.585G>A (p.Leu195=) c.640G>A (p.Gly214Ser) c.186G>A (p.Leu62=) c.242G>A n.783G>A | gnomAD v4 |
| 15 | g.89333171A= | CA2194571544 | POLG,POLGARF | c.584T= (p.Leu195=) c.639T= (p.Pro213=) c.185T= (p.Leu62=) c.241T= n.782T= | |
| 15 | g.89333171A>C | CA393770613 | POLG,POLGARF | c.584T>G (p.Leu195Arg) c.639T>G (p.Pro213=) c.185T>G (p.Leu62Arg) c.241T>G n.782T>G | |
| 15 | g.89333171A>G | CA241471 | POLG,POLGARF | c.584T>C (p.Leu195Pro) c.639T>C (p.Pro213=) c.185T>C (p.Leu62Pro) c.241T>C n.782T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333171A>T | CA393770614 | POLG,POLGARF | c.584T>A (p.Leu195Gln) c.639T>A (p.Pro213=) c.185T>A (p.Leu62Gln) c.241T>A n.782T>A | |
| 15 | g.89333172G>A | CA492289909 | POLG,POLGARF | c.583C>T (p.Leu195=) c.638C>T (p.Pro213Leu) c.184C>T (p.Leu62=) c.240C>T n.781C>T | gnomAD v4 |
| 15 | g.89333172G>C | CA393770617 | POLG,POLGARF | c.583C>G (p.Leu195Val) c.638C>G (p.Pro213Arg) c.184C>G (p.Leu62Val) c.240C>G n.781C>G | gnomAD v4 |
| 15 | g.89333172G= | CA2194571547 | POLG,POLGARF | c.583C= (p.Leu195=) c.638C= (p.Pro213=) c.184C= (p.Leu62=) c.240C= n.781C= | |
| 15 | g.89333172G>T | CA274565822 | POLG,POLGARF | c.583C>A (p.Leu195Met) c.638C>A (p.Pro213His) c.184C>A (p.Leu62Met) c.240C>A n.781C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333174dup | CA274565818 | POLG,POLGARF | c.583dup (p.Leu195ProfsTer?) c.638dup (p.Gly214TrpfsTer?) c.184dup (p.Leu62ProfsTer?) c.240dup n.781dup c.583dup (p.Leu195ProfsTer28) | dbSNP |
| 15 | g.89333174del | CA2630256925 | POLG,POLGARF | c.583del (p.Leu195TrpfsTer?) c.638del (p.Pro213LeufsTer?) c.184del (p.Leu62TrpfsTer?) c.240del n.781del | gnomAD v4 |
| 15 | g.89333173G>A | CA492289910 | POLG,POLGARF | c.582C>T (p.Ala194=) c.637C>T (p.Pro213Ser) c.183C>T (p.Ala61=) c.239C>T n.780C>T | ClinVar |
| 15 | g.89333173G>C | CA492289911 | POLG,POLGARF | c.582C>G (p.Ala194=) c.637C>G (p.Pro213Ala) c.183C>G (p.Ala61=) c.239C>G n.780C>G | |
| 15 | g.89333173G>T | CA492289912 | POLG,POLGARF | c.582C>A (p.Ala194=) c.637C>A (p.Pro213Thr) c.183C>A (p.Ala61=) c.239C>A n.780C>A | gnomAD v4 |
| 15 | g.89333174G>A | CA316636 | POLG,POLGARF | c.581C>T (p.Ala194Val) c.636C>T (p.Gly212=) c.182C>T (p.Ala61Val) c.238C>T n.779C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333174G>C | CA393770628 | POLG,POLGARF | c.581C>G (p.Ala194Gly) c.636C>G (p.Gly212=) c.182C>G (p.Ala61Gly) c.238C>G n.779C>G | |
| 15 | g.89333174G= | CA2194571554 | POLG,POLGARF | c.581C= (p.Ala194=) c.636C= (p.Gly212=) c.182C= (p.Ala61=) c.238C= n.779C= | |
| 15 | g.89333174G>T | CA393770629 | POLG,POLGARF | c.581C>A (p.Ala194Asp) c.636C>A (p.Gly212=) c.182C>A (p.Ala61Asp) c.238C>A n.779C>A | gnomAD v4 |
| 15 | g.89333175C>A | CA393770630 | POLG,POLGARF | c.580G>T (p.Ala194Ser) c.635G>T (p.Gly212Val) c.181G>T (p.Ala61Ser) c.237G>T n.778G>T | gnomAD v4 |
| 15 | g.89333175C= | CA2194571558 | POLG,POLGARF | c.580G= (p.Ala194=) c.635G= (p.Gly212=) c.181G= (p.Ala61=) c.237G= n.778G= | |
| 15 | g.89333175C>G | CA393770631 | POLG,POLGARF | c.580G>C (p.Ala194Pro) c.635G>C (p.Gly212Ala) c.181G>C (p.Ala61Pro) c.237G>C n.778G>C | |
| 15 | g.89333175C>T | CA393770634 | POLG,POLGARF | c.580G>A (p.Ala194Thr) c.635G>A (p.Gly212Asp) c.181G>A (p.Ala61Thr) c.237G>A n.778G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333176C>A | CA492289916 | POLG,POLGARF | c.579G>T (p.Arg193=) c.634G>T (p.Gly212Cys) c.180G>T (p.Arg60=) c.236G>T n.777G>T | |
| 15 | g.89333176C= | CA2194571562 | POLG,POLGARF | c.579G= (p.Arg193=) c.634G= (p.Gly212=) c.180G= (p.Arg60=) c.236G= n.777G= | |
| 15 | g.89333176C>G | CA492289917 | POLG,POLGARF | c.579G>C (p.Arg193=) c.634G>C (p.Gly212Arg) c.180G>C (p.Arg60=) c.236G>C n.777G>C | |
| 15 | g.89333176C>T | CA274565836 | POLG,POLGARF | c.579G>A (p.Arg193=) c.634G>A (p.Gly212Ser) c.180G>A (p.Arg60=) c.236G>A n.777G>A | dbSNP gnomAD v4 |
| 15 | g.89333177C>A | CA393770638 | POLG,POLGARF | c.578G>T (p.Arg193Leu) c.633G>T (p.Ala211=) c.179G>T (p.Arg60Leu) c.235G>T n.776G>T | gnomAD v4 |
| 15 | g.89333177C= | CA2194571567 | POLG,POLGARF | c.578G= (p.Arg193=) c.633G= (p.Ala211=) c.179G= (p.Arg60=) c.235G= n.776G= | |
| 15 | g.89333177C>G | CA393770642 | POLG,POLGARF | c.578G>C (p.Arg193Pro) c.633G>C (p.Ala211=) c.179G>C (p.Arg60Pro) c.235G>C n.776G>C | ClinVar |
| 15 | g.89333177C>T | CA241475 | POLG,POLGARF | c.578G>A (p.Arg193Gln) c.633G>A (p.Ala211=) c.179G>A (p.Arg60Gln) c.235G>A n.776G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89333178G>A | CA316887 | POLG,POLGARF | c.577C>T (p.Arg193Trp) c.632C>T (p.Ala211Val) c.178C>T (p.Arg60Trp) c.234C>T n.775C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333178G>C | CA393770647 | POLG,POLGARF | c.577C>G (p.Arg193Gly) c.632C>G (p.Ala211Gly) c.178C>G (p.Arg60Gly) c.234C>G n.775C>G | |
| 15 | g.89333178G= | CA2194571573 | POLG,POLGARF | c.577C= (p.Arg193=) c.632C= (p.Ala211=) c.178C= (p.Arg60=) c.234C= n.775C= | |
| 15 | g.89333178G>T | CA492289919 | POLG,POLGARF | c.577C>A (p.Arg193=) c.632C>A (p.Ala211Glu) c.178C>A (p.Arg60=) c.234C>A n.775C>A | gnomAD v4 |
| 15 | g.89333179C>A | CA274565843 | POLG,POLGARF | c.576G>T (p.Glu192Asp) c.631G>T (p.Ala211Ser) c.177G>T (p.Glu59Asp) c.233G>T n.774G>T | dbSNP gnomAD v4 |
| 15 | g.89333179C= | CA2194571577 | POLG,POLGARF | c.576G= (p.Glu192=) c.631G= (p.Ala211=) c.177G= (p.Glu59=) c.233G= n.774G= | |
| 15 | g.89333179C>G | CA393770654 | POLG,POLGARF | c.576G>C (p.Glu192Asp) c.631G>C (p.Ala211Pro) c.177G>C (p.Glu59Asp) c.233G>C n.774G>C | |
| 15 | g.89333179C>T | CA492289920 | POLG,POLGARF | c.576G>A (p.Glu192=) c.631G>A (p.Ala211Thr) c.177G>A (p.Glu59=) c.233G>A n.774G>A | gnomAD v4 |
| 15 | g.89333180T>A | CA393770657 | POLG,POLGARF | c.575A>T (p.Glu192Val) c.630A>T (p.Gly210=) c.176A>T (p.Glu59Val) c.232A>T n.773A>T | |
| 15 | g.89333180T>C | CA393770660 | POLG,POLGARF | c.575A>G (p.Glu192Gly) c.630A>G (p.Gly210=) c.176A>G (p.Glu59Gly) c.232A>G n.773A>G | gnomAD v4 |
| 15 | g.89333180T>G | CA393770658 | POLG,POLGARF | c.575A>C (p.Glu192Ala) c.630A>C (p.Gly210=) c.176A>C (p.Glu59Ala) c.232A>C n.773A>C | |
| 15 | g.89333181C>A | CA393770663 | POLG,POLGARF | c.574G>T (p.Glu192Ter) c.629G>T (p.Gly210Val) c.175G>T (p.Glu59Ter) c.231G>T n.772G>T | gnomAD v4 |
| 15 | g.89333181C>G | CA393770666 | POLG,POLGARF | c.574G>C (p.Glu192Gln) c.629G>C (p.Gly210Ala) c.175G>C (p.Glu59Gln) c.231G>C n.772G>C | |
| 15 | g.89333181C>T | CA393770670 | POLG,POLGARF | c.574G>A (p.Glu192Lys) c.629G>A (p.Gly210Glu) c.175G>A (p.Glu59Lys) c.231G>A n.772G>A | |
| 15 | g.89333182C>A | CA393770673 | POLG,POLGARF | c.573G>T (p.Glu191Asp) c.628G>T (p.Gly210Ter) c.174G>T (p.Glu58Asp) c.230G>T n.771G>T | gnomAD v4 |
| 15 | g.89333182C>G | CA393770675 | POLG,POLGARF | c.573G>C (p.Glu191Asp) c.628G>C (p.Gly210Arg) c.174G>C (p.Glu58Asp) c.230G>C n.771G>C | |
| 15 | g.89333182C>T | CA492289924 | POLG,POLGARF | c.573G>A (p.Glu191=) c.628G>A (p.Gly210Arg) c.174G>A (p.Glu58=) c.230G>A n.771G>A | ClinVar gnomAD v4 |
| 15 | g.89333183T>A | CA393770693 | POLG,POLGARF | c.572A>T (p.Glu191Val) c.627A>T (p.Arg209=) c.173A>T (p.Glu58Val) c.229A>T n.770A>T | |
| 15 | g.89333183T>C | CA393770697 | POLG,POLGARF | c.572A>G (p.Glu191Gly) c.627A>G (p.Arg209=) c.173A>G (p.Glu58Gly) c.229A>G n.770A>G | gnomAD v4 |
| 15 | g.89333183T>G | CA393770700 | POLG,POLGARF | c.572A>C (p.Glu191Ala) c.627A>C (p.Arg209=) c.173A>C (p.Glu58Ala) c.229A>C n.770A>C | |
| 15 | g.89333184C>A | CA393770703 | POLG,POLGARF | c.571G>T (p.Glu191Ter) c.626G>T (p.Arg209Leu) c.172G>T (p.Glu58Ter) c.228G>T n.769G>T | gnomAD v4 |
| 15 | g.89333184C= | CA2194571579 | POLG,POLGARF | c.571G= (p.Glu191=) c.626G= (p.Arg209=) c.172G= (p.Glu58=) c.228G= n.769G= | |
| 15 | g.89333184C>G | CA393770706 | POLG,POLGARF | c.571G>C (p.Glu191Gln) c.626G>C (p.Arg209Pro) c.172G>C (p.Glu58Gln) c.228G>C n.769G>C | gnomAD v4 |
| 15 | g.89333184C>T | CA393770714 | POLG,POLGARF | c.571G>A (p.Glu191Lys) c.626G>A (p.Arg209Gln) c.172G>A (p.Glu58Lys) c.228G>A n.769G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333185G>A | CA492289927 | POLG,POLGARF | c.570C>T (p.Pro190=) c.625C>T (p.Arg209Ter) c.171C>T (p.Pro57=) c.227C>T n.768C>T | gnomAD v4 COSMIC |
| 15 | g.89333185G>C | CA492289928 | POLG,POLGARF | c.570C>G (p.Pro190=) c.625C>G (p.Arg209Gly) c.171C>G (p.Pro57=) c.227C>G n.768C>G | |
| 15 | g.89333185G= | CA2194571585 | POLG,POLGARF | c.570C= (p.Pro190=) c.625C= (p.Arg209=) c.171C= (p.Pro57=) c.227C= n.768C= | |
| 15 | g.89333185G>T | CA7725093 | POLG,POLGARF | c.570C>A (p.Pro190=) c.625C>A (p.Arg209=) c.171C>A (p.Pro57=) c.227C>A n.768C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333186G>A | CA393770720 | POLG,POLGARF | c.569C>T (p.Pro190Leu) c.624C>T (p.Pro208=) c.170C>T (p.Pro57Leu) c.226C>T n.767C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333186G>C | CA393770726 | POLG,POLGARF | c.569C>G (p.Pro190Arg) c.624C>G (p.Pro208=) c.170C>G (p.Pro57Arg) c.226C>G n.767C>G | gnomAD v4 |
| 15 | g.89333186G= | CA2194571597 | POLG,POLGARF | c.569C= (p.Pro190=) c.624C= (p.Pro208=) c.170C= (p.Pro57=) c.226C= n.767C= | |
| 15 | g.89333186G>T | CA393770722 | POLG,POLGARF | c.569C>A (p.Pro190His) c.624C>A (p.Pro208=) c.170C>A (p.Pro57His) c.226C>A n.767C>A | gnomAD v4 |
| 15 | g.89333187G>A | CA393770731 | POLG,POLGARF | c.568C>T (p.Pro190Ser) c.623C>T (p.Pro208Leu) c.169C>T (p.Pro57Ser) c.225C>T n.766C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333187G>C | CA393770735 | POLG,POLGARF | c.568C>G (p.Pro190Ala) c.623C>G (p.Pro208Arg) c.169C>G (p.Pro57Ala) c.225C>G n.766C>G | ClinVar gnomAD v4 |
| 15 | g.89333187G= | CA2194571601 | POLG,POLGARF | c.568C= (p.Pro190=) c.623C= (p.Pro208=) c.169C= (p.Pro57=) c.225C= n.766C= | |
| 15 | g.89333187G>T | CA393770741 | POLG,POLGARF | c.568C>A (p.Pro190Thr) c.623C>A (p.Pro208His) c.169C>A (p.Pro57Thr) c.225C>A n.766C>A | gnomAD v4 |
| 15 | g.89333188G>A | CA7725094 | POLG,POLGARF | c.567C>T (p.Ile189=) c.622C>T (p.Pro208Ser) c.168C>T (p.Ile56=) c.224C>T n.765C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333188G>C | CA393770765 | POLG,POLGARF | c.567C>G (p.Ile189Met) c.622C>G (p.Pro208Ala) c.168C>G (p.Ile56Met) c.224C>G n.765C>G | |
| 15 | g.89333188G= | CA2194571604 | POLG,POLGARF | c.567C= (p.Ile189=) c.622C= (p.Pro208=) c.168C= (p.Ile56=) c.224C= n.765C= | |
| 15 | g.89333188G>T | CA492289933 | POLG,POLGARF | c.567C>A (p.Ile189=) c.622C>A (p.Pro208Thr) c.168C>A (p.Ile56=) c.224C>A n.765C>A | gnomAD v4 |
| 15 | g.89333189A>C | CA393770769 | POLG,POLGARF | c.566T>G (p.Ile189Ser) c.621T>G (p.His207Gln) c.167T>G (p.Ile56Ser) c.223T>G n.764T>G | |
| 15 | g.89333189A>G | CA393770773 | POLG,POLGARF | c.566T>C (p.Ile189Thr) c.621T>C (p.His207=) c.167T>C (p.Ile56Thr) c.223T>C n.764T>C | gnomAD v4 |
| 15 | g.89333189A>T | CA393770774 | POLG,POLGARF | c.566T>A (p.Ile189Asn) c.621T>A (p.His207Gln) c.167T>A (p.Ile56Asn) c.223T>A n.764T>A | |
| 15 | g.89333190T>A | CA393770775 | POLG,POLGARF | c.565A>T (p.Ile189Phe) c.620A>T (p.His207Leu) c.166A>T (p.Ile56Phe) c.222A>T n.763A>T | dbSNP |
| 15 | g.89333190T>C | CA316885 | POLG,POLGARF | c.565A>G (p.Ile189Val) c.620A>G (p.His207Arg) c.166A>G (p.Ile56Val) c.222A>G n.763A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333190T>G | CA393770778 | POLG,POLGARF | c.565A>C (p.Ile189Leu) c.620A>C (p.His207Pro) c.166A>C (p.Ile56Leu) c.222A>C n.763A>C | |
| 15 | g.89333190T= | CA2194571609 | POLG,POLGARF | c.565A= (p.Ile189=) c.620A= (p.His207=) c.166A= (p.Ile56=) c.222A= n.763A= | |
| 15 | g.89333191G>A | CA492289937 | POLG,POLGARF | c.564C>T (p.Ala188=) c.619C>T (p.His207Tyr) c.165C>T (p.Ala55=) c.221C>T n.762C>T | |
| 15 | g.89333191G>C | CA492289938 | POLG,POLGARF | c.564C>G (p.Ala188=) c.619C>G (p.His207Asp) c.165C>G (p.Ala55=) c.221C>G n.762C>G | |
| 15 | g.89333191G>T | CA492289939 | POLG,POLGARF | c.564C>A (p.Ala188=) c.619C>A (p.His207Asn) c.165C>A (p.Ala55=) c.221C>A n.762C>A | gnomAD v4 |
| 15 | g.89333192G>A | CA274565854 | POLG,POLGARF | c.563C>T (p.Ala188Val) c.618C>T (p.Gly206=) c.164C>T (p.Ala55Val) c.220C>T n.761C>T | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333192G>C | CA393770797 | POLG,POLGARF | c.563C>G (p.Ala188Gly) c.618C>G (p.Gly206=) c.164C>G (p.Ala55Gly) c.220C>G n.761C>G | ClinVar |
| 15 | g.89333192G= | CA2194571614 | POLG,POLGARF | c.563C= (p.Ala188=) c.618C= (p.Gly206=) c.164C= (p.Ala55=) c.220C= n.761C= | |
| 15 | g.89333192G>T | CA393770785 | POLG,POLGARF | c.563C>A (p.Ala188Asp) c.618C>A (p.Gly206=) c.164C>A (p.Ala55Asp) c.220C>A n.761C>A | gnomAD v4 |
| 15 | g.89333193C>A | CA393770801 | POLG,POLGARF | c.562G>T (p.Ala188Ser) c.617G>T (p.Gly206Val) c.163G>T (p.Ala55Ser) c.219G>T n.760G>T | gnomAD v4 |
| 15 | g.89333193C= | CA2194571624 | POLG,POLGARF | c.562G= (p.Ala188=) c.617G= (p.Gly206=) c.163G= (p.Ala55=) c.219G= n.760G= | |
| 15 | g.89333193C>G | CA393770804 | POLG,POLGARF | c.562G>C (p.Ala188Pro) c.617G>C (p.Gly206Ala) c.163G>C (p.Ala55Pro) c.219G>C n.760G>C | |
| 15 | g.89333193C>T | CA393770806 | POLG,POLGARF | c.562G>A (p.Ala188Thr) c.617G>A (p.Gly206Asp) c.163G>A (p.Ala55Thr) c.219G>A n.760G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333194C>A | CA492289941 | POLG,POLGARF | c.561G>T (p.Val187=) c.616G>T (p.Gly206Cys) c.162G>T (p.Val54=) c.218G>T n.759G>T | |
| 15 | g.89333194C>G | CA492289942 | POLG,POLGARF | c.561G>C (p.Val187=) c.616G>C (p.Gly206Arg) c.162G>C (p.Val54=) c.218G>C n.759G>C | |
| 15 | g.89333194C>T | CA492289943 | POLG,POLGARF | c.561G>A (p.Val187=) c.616G>A (p.Gly206Ser) c.162G>A (p.Val54=) c.218G>A n.759G>A | gnomAD v4 |
| 15 | g.89333195A>C | CA393770813 | POLG,POLGARF | c.560T>G (p.Val187Gly) c.615T>G (p.Arg205=) c.161T>G (p.Val54Gly) c.217T>G n.758T>G | |
| 15 | g.89333195A>G | CA393770818 | POLG,POLGARF | c.560T>C (p.Val187Ala) c.615T>C (p.Arg205=) c.161T>C (p.Val54Ala) c.217T>C n.758T>C | |
| 15 | g.89333195A>T | CA393770822 | POLG,POLGARF | c.560T>A (p.Val187Glu) c.615T>A (p.Arg205=) c.161T>A (p.Val54Glu) c.217T>A n.758T>A | |
| 15 | g.89333196C>A | CA393770825 | POLG,POLGARF | c.559G>T (p.Val187Leu) c.614G>T (p.Arg205Leu) c.160G>T (p.Val54Leu) c.216G>T n.757G>T | gnomAD v4 |
| 15 | g.89333196C= | CA2194571631 | POLG,POLGARF | c.559G= (p.Val187=) c.614G= (p.Arg205=) c.160G= (p.Val54=) c.216G= n.757G= | |
| 15 | g.89333196C>G | CA393770828 | POLG,POLGARF | c.559G>C (p.Val187Leu) c.614G>C (p.Arg205Pro) c.160G>C (p.Val54Leu) c.216G>C n.757G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333196C>T | CA393770833 | POLG,POLGARF | c.559G>A (p.Val187Met) c.614G>A (p.Arg205His) c.160G>A (p.Val54Met) c.216G>A n.757G>A | gnomAD v4 |
| 15 | g.89333197G>A | CA492289948 | POLG,POLGARF | c.558C>T (p.Pro186=) c.613C>T (p.Arg205Cys) c.159C>T (p.Pro53=) c.215C>T n.756C>T | gnomAD v4 |
| 15 | g.89333197G>C | CA492289950 | POLG,POLGARF | c.558C>G (p.Pro186=) c.613C>G (p.Arg205Gly) c.159C>G (p.Pro53=) c.215C>G n.756C>G | |
| 15 | g.89333197G>T | CA492289949 | POLG,POLGARF | c.558C>A (p.Pro186=) c.613C>A (p.Arg205Ser) c.159C>A (p.Pro53=) c.215C>A n.756C>A | gnomAD v4 |
| 15 | g.89333198G>A | CA393770837 | POLG,POLGARF | c.557C>T (p.Pro186Leu) c.612C>T (p.Thr204=) c.158C>T (p.Pro53Leu) c.214C>T n.755C>T | gnomAD v4 |
| 15 | g.89333198G>C | CA393770839 | POLG,POLGARF | c.557C>G (p.Pro186Arg) c.612C>G (p.Thr204=) c.158C>G (p.Pro53Arg) c.214C>G n.755C>G | |
| 15 | g.89333198G>T | CA393770842 | POLG,POLGARF | c.557C>A (p.Pro186His) c.612C>A (p.Thr204=) c.158C>A (p.Pro53His) c.214C>A n.755C>A | gnomAD v4 |
| 15 | g.89333199G>A | CA393770853 | POLG,POLGARF | c.556C>T (p.Pro186Ser) c.611C>T (p.Thr204Ile) c.157C>T (p.Pro53Ser) c.213C>T n.754C>T | gnomAD v4 |
| 15 | g.89333199G>C | CA393770851 | POLG,POLGARF | c.556C>G (p.Pro186Ala) c.611C>G (p.Thr204Ser) c.157C>G (p.Pro53Ala) c.213C>G n.754C>G | |
| 15 | g.89333199G>T | CA393770846 | POLG,POLGARF | c.556C>A (p.Pro186Thr) c.611C>A (p.Thr204Asn) c.157C>A (p.Pro53Thr) c.213C>A n.754C>A | |
| 15 | g.89333200T>A | CA492289954 | POLG,POLGARF | c.555A>T (p.Val185=) c.610A>T (p.Thr204Ser) c.156A>T (p.Val52=) c.212A>T n.753A>T | |
| 15 | g.89333200T>C | CA492289955 | POLG,POLGARF | c.555A>G (p.Val185=) c.610A>G (p.Thr204Ala) c.156A>G (p.Val52=) c.212A>G n.753A>G | gnomAD v4 |
| 15 | g.89333200T>G | CA492289957 | POLG,POLGARF | c.555A>C (p.Val185=) c.610A>C (p.Thr204Pro) c.156A>C (p.Val52=) c.212A>C n.753A>C | |
| 15 | g.89333201A>C | CA393770858 | POLG,POLGARF | c.554T>G (p.Val185Gly) c.609T>G (p.Arg203=) c.155T>G (p.Val52Gly) c.211T>G n.752T>G | |
| 15 | g.89333201A>G | CA393770863 | POLG,POLGARF | c.554T>C (p.Val185Ala) c.609T>C (p.Arg203=) c.155T>C (p.Val52Ala) c.211T>C n.752T>C | gnomAD v4 |
| 15 | g.89333201A>T | CA393770868 | POLG,POLGARF | c.554T>A (p.Val185Glu) c.609T>A (p.Arg203=) c.155T>A (p.Val52Glu) c.211T>A n.752T>A | |
| 15 | g.89333202C>A | CA274565858 | POLG,POLGARF | c.553G>T (p.Val185Leu) c.608G>T (p.Arg203Leu) c.154G>T (p.Val52Leu) c.210G>T n.751G>T | dbSNP |
| 15 | g.89333202C= | CA2194571637 | POLG,POLGARF | c.553G= (p.Val185=) c.608G= (p.Arg203=) c.154G= (p.Val52=) c.210G= n.751G= | |
| 15 | g.89333202C>G | CA393770873 | POLG,POLGARF | c.553G>C (p.Val185Leu) c.608G>C (p.Arg203Pro) c.154G>C (p.Val52Leu) c.210G>C n.751G>C | |
| 15 | g.89333202C>T | CA393770875 | POLG,POLGARF | c.553G>A (p.Val185Ile) c.608G>A (p.Arg203His) c.154G>A (p.Val52Ile) c.210G>A n.751G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333203G>A | CA492289960 | POLG,POLGARF | c.552C>T (p.Ala184=) c.607C>T (p.Arg203Cys) c.153C>T (p.Ala51=) c.209C>T n.750C>T | ClinVar gnomAD v4 |
| 15 | g.89333203G>C | CA492289961 | POLG,POLGARF | c.552C>G (p.Ala184=) c.607C>G (p.Arg203Gly) c.153C>G (p.Ala51=) c.209C>G n.750C>G | gnomAD v4 |
| 15 | g.89333203G>T | CA492289962 | POLG,POLGARF | c.552C>A (p.Ala184=) c.607C>A (p.Arg203Ser) c.153C>A (p.Ala51=) c.209C>A n.750C>A | gnomAD v4 |
| 15 | g.89333204G>A | CA393770885 | POLG,POLGARF | c.551C>T (p.Ala184Val) c.606C>T (p.Gly202=) c.152C>T (p.Ala51Val) c.208C>T n.749C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333204G>C | CA393770879 | POLG,POLGARF | c.551C>G (p.Ala184Gly) c.606C>G (p.Gly202=) c.152C>G (p.Ala51Gly) c.208C>G n.749C>G | gnomAD v4 |
| 15 | g.89333204G= | CA2194571647 | POLG,POLGARF | c.551C= (p.Ala184=) c.606C= (p.Gly202=) c.152C= (p.Ala51=) c.208C= n.749C= | |
| 15 | g.89333204G>T | CA393770882 | POLG,POLGARF | c.551C>A (p.Ala184Asp) c.606C>A (p.Gly202=) c.152C>A (p.Ala51Asp) c.208C>A n.749C>A | |
| 15 | g.89333205C>A | CA393770890 | POLG,POLGARF | c.550G>T (p.Ala184Ser) c.605G>T (p.Gly202Val) c.151G>T (p.Ala51Ser) c.207G>T n.748G>T | gnomAD v4 |
| 15 | g.89333205C>G | CA393770892 | POLG,POLGARF | c.550G>C (p.Ala184Pro) c.605G>C (p.Gly202Ala) c.151G>C (p.Ala51Pro) c.207G>C n.748G>C | |
| 15 | g.89333205C>T | CA393770894 | POLG,POLGARF | c.550G>A (p.Ala184Thr) c.605G>A (p.Gly202Asp) c.151G>A (p.Ala51Thr) c.207G>A n.748G>A | gnomAD v4 |
| 15 | g.89333210_89333239dup | CA2630256926 | POLG,POLGARF | c.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 |
| 15 | g.89333206C>A | CA393770898 | POLG,POLGARF | c.549G>T (p.Glu183Asp) c.604G>T (p.Gly202Cys) c.150G>T (p.Glu50Asp) c.206G>T n.747G>T | gnomAD v4 |
| 15 | g.89333206C= | CA2194571654 | POLG,POLGARF | c.549G= (p.Glu183=) c.604G= (p.Gly202=) c.150G= (p.Glu50=) c.206G= n.747G= | |
| 15 | g.89333206C>G | CA393770900 | POLG,POLGARF | c.549G>C (p.Glu183Asp) c.604G>C (p.Gly202Arg) c.150G>C (p.Glu50Asp) c.206G>C n.747G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333206C>T | CA492289967 | POLG,POLGARF | c.549G>A (p.Glu183=) c.604G>A (p.Gly202Ser) c.150G>A (p.Glu50=) c.206G>A n.747G>A | gnomAD v4 |
| 15 | g.89333207T>A | CA393770904 | POLG,POLGARF | c.548A>T (p.Glu183Val) c.603A>T (p.Gly201=) c.149A>T (p.Glu50Val) c.205A>T n.746A>T | gnomAD v4 |
| 15 | g.89333207T>C | CA7725095 | POLG,POLGARF | c.548A>G (p.Glu183Gly) c.603A>G (p.Gly201=) c.149A>G (p.Glu50Gly) c.205A>G n.746A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333207T>G | CA393770901 | POLG,POLGARF | c.548A>C (p.Glu183Ala) c.603A>C (p.Gly201=) c.149A>C (p.Glu50Ala) c.205A>C n.746A>C | |
| 15 | g.89333207T= | CA2194571662 | POLG,POLGARF | c.548A= (p.Glu183=) c.603A= (p.Gly201=) c.149A= (p.Glu50=) c.205A= n.746A= | |
| 15 | g.89333207_89333208delinsTC | CA2194571665 | POLG,POLGARF | c.547_548delinsGA (p.Glu183=) c.602_603delinsGA (p.Gly201=) c.148_149delinsGA (p.Glu50=) c.204_205delinsGA n.745_746delinsGA | |
| 15 | g.89333208C>A | CA393770908 | POLG,POLGARF | c.547G>T (p.Glu183Ter) c.602G>T (p.Gly201Val) c.148G>T (p.Glu50Ter) c.204G>T n.745G>T | |
| 15 | g.89333208C= | CA2194571674 | POLG,POLGARF | c.547G= (p.Glu183=) c.602G= (p.Gly201=) c.148G= (p.Glu50=) c.204G= n.745G= | |
| 15 | g.89333208C>G | CA7725096 | POLG,POLGARF | c.547G>C (p.Glu183Gln) c.602G>C (p.Gly201Ala) c.148G>C (p.Glu50Gln) c.204G>C n.745G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333208C>T | CA393770909 | POLG,POLGARF | c.547G>A (p.Glu183Lys) c.602G>A (p.Gly201Glu) c.148G>A (p.Glu50Lys) c.204G>A n.745G>A | |
| 15 | g.89333212dup | CA2630256928 | POLG,POLGARF | c.547dup (p.Glu183GlyfsTer?) c.602dup (p.Gly202ArgfsTer?) c.148dup (p.Glu50GlyfsTer?) c.204dup n.745dup | gnomAD v4 |
| 15 | g.89333212del | CA274565865 | POLG,POLGARF | c.547del (p.Glu183ArgfsTer?) c.602del (p.Gly201GlufsTer?) c.148del (p.Glu50ArgfsTer?) c.204del n.745del | dbSNP gnomAD v4 |
| 15 | g.89333208_89333236dup | CA2630256927 | POLG,POLGARF | c.519_547dup (p.Glu183GlyfsTer?) c.574_602dup (p.Arg203TrpfsTer?) c.120_148dup (p.Glu50GlyfsTer?) c.176_204dup n.717_745dup | gnomAD v4 |
| 15 | g.89333209C>A | CA492289971 | POLG,POLGARF | c.546G>T (p.Gly182=) c.601G>T (p.Gly201Ter) c.147G>T (p.Gly49=) c.203G>T n.744G>T | |
| 15 | g.89333209C>G | CA492289972 | POLG,POLGARF | c.546G>C (p.Gly182=) c.601G>C (p.Gly201Arg) c.147G>C (p.Gly49=) c.203G>C n.744G>C | |
| 15 | g.89333209C>T | CA492289974 | POLG,POLGARF | c.546G>A (p.Gly182=) c.601G>A (p.Gly201Arg) c.147G>A (p.Gly49=) c.203G>A n.744G>A | gnomAD v4 |
| 15 | g.89333210C>A | CA393770911 | POLG,POLGARF | c.545G>T (p.Gly182Val) c.600G>T (p.Gly200=) c.146G>T (p.Gly49Val) c.202G>T n.743G>T | dbSNP gnomAD v2 |
| 15 | g.89333210C= | CA2194571681 | POLG,POLGARF | c.545G= (p.Gly182=) c.600G= (p.Gly200=) c.146G= (p.Gly49=) c.202G= n.743G= | |
| 15 | g.89333210C>G | CA393770914 | POLG,POLGARF | c.545G>C (p.Gly182Ala) c.600G>C (p.Gly200=) c.146G>C (p.Gly49Ala) c.202G>C n.743G>C | gnomAD v4 |
| 15 | g.89333210C>T | CA393770915 | POLG,POLGARF | c.545G>A (p.Gly182Glu) c.600G>A (p.Gly200=) c.146G>A (p.Gly49Glu) c.202G>A n.743G>A | |
| 15 | g.89333211C>A | CA393770916 | POLG,POLGARF | c.544G>T (p.Gly182Trp) c.599G>T (p.Gly200Val) c.145G>T (p.Gly49Trp) c.201G>T n.742G>T | gnomAD v4 |
| 15 | g.89333211C= | CA2194571689 | POLG,POLGARF | c.544G= (p.Gly182=) c.599G= (p.Gly200=) c.145G= (p.Gly49=) c.201G= n.742G= | |
| 15 | g.89333211C>G | CA7725097 | POLG,POLGARF | c.544G>C (p.Gly182Arg) c.599G>C (p.Gly200Ala) c.145G>C (p.Gly49Arg) c.201G>C n.742G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333211C>T | CA393770920 | POLG,POLGARF | c.544G>A (p.Gly182Arg) c.599G>A (p.Gly200Glu) c.145G>A (p.Gly49Arg) c.201G>A n.742G>A | |
| 15 | g.89333212C>A | CA393770927 | POLG,POLGARF | c.543G>T (p.Glu181Asp) c.598G>T (p.Gly200Trp) c.144G>T (p.Glu48Asp) c.200G>T n.741G>T | gnomAD v4 |
| 15 | g.89333212C= | CA2194571712 | POLG,POLGARF | c.543G= (p.Glu181=) c.598G= (p.Gly200=) c.144G= (p.Glu48=) c.200G= n.741G= | |
| 15 | g.89333212C>G | CA393770930 | POLG,POLGARF | c.543G>C (p.Glu181Asp) c.598G>C (p.Gly200Arg) c.144G>C (p.Glu48Asp) c.200G>C n.741G>C | |
| 15 | g.89333212C>T | CA7725098 | POLG,POLGARF | c.543G>A (p.Glu181=) c.598G>A (p.Gly200Arg) c.144G>A (p.Glu48=) c.200G>A n.741G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333213T>A | CA393770938 | POLG,POLGARF | c.542A>T (p.Glu181Val) c.597A>T (p.Arg199=) c.143A>T (p.Glu48Val) c.199A>T n.740A>T | |
| 15 | g.89333213T>C | CA393770943 | POLG,POLGARF | c.542A>G (p.Glu181Gly) c.597A>G (p.Arg199=) c.143A>G (p.Glu48Gly) c.199A>G n.740A>G | |
| 15 | g.89333213T>G | CA7725099 | POLG,POLGARF | c.542A>C (p.Glu181Ala) c.597A>C (p.Arg199=) c.143A>C (p.Glu48Ala) c.199A>C n.740A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333213T= | CA2194571714 | POLG,POLGARF | c.542A= (p.Glu181=) c.597A= (p.Arg199=) c.143A= (p.Glu48=) c.199A= n.740A= | |
| 15 | g.89333214C>A | CA393770949 | POLG,POLGARF | c.541G>T (p.Glu181Ter) c.596G>T (p.Arg199Leu) c.142G>T (p.Glu48Ter) c.198G>T n.739G>T | gnomAD v4 |
| 15 | g.89333214C= | CA2194571718 | POLG,POLGARF | c.541G= (p.Glu181=) c.596G= (p.Arg199=) c.142G= (p.Glu48=) c.198G= n.739G= | |
| 15 | g.89333214C>G | CA393770951 | POLG,POLGARF | c.541G>C (p.Glu181Gln) c.596G>C (p.Arg199Pro) c.142G>C (p.Glu48Gln) c.198G>C n.739G>C | |
| 15 | g.89333214C>T | CA393770956 | POLG,POLGARF | c.541G>A (p.Glu181Lys) c.596G>A (p.Arg199Gln) c.142G>A (p.Glu48Lys) c.198G>A n.739G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333214_89333215insACA | CA2805168370 | POLG,POLGARF | c.540_541insTGT (p.Pro180_Glu181insCys) c.595_596insTGT (p.Arg199LeufsTer2) c.141_142insTGT (p.Pro47_Glu48insCys) c.197_198insTGT n.738_739insTGT | |
| 15 | g.89333215G>A | CA492289983 | POLG,POLGARF | c.540C>T (p.Pro180=) c.595C>T (p.Arg199Ter) c.141C>T (p.Pro47=) c.197C>T n.738C>T | ClinVar gnomAD v4 COSMIC |
| 15 | g.89333215G>C | CA492289984 | POLG,POLGARF | c.540C>G (p.Pro180=) c.595C>G (p.Arg199Gly) c.141C>G (p.Pro47=) c.197C>G n.738C>G | |
| 15 | g.89333215G>T | CA492289985 | POLG,POLGARF | c.540C>A (p.Pro180=) c.595C>A (p.Arg199=) c.141C>A (p.Pro47=) c.197C>A n.738C>A | gnomAD v4 |
| 15 | g.89333218del | CA2630256929 | POLG,POLGARF | c.540del (p.Glu181ArgfsTer?) c.595del (p.Arg199GlufsTer?) c.141del (p.Glu48ArgfsTer?) c.197del n.738del | gnomAD v4 |
| 15 | g.89333216G>A | CA393770961 | POLG,POLGARF | c.539C>T (p.Pro180Leu) c.594C>T (p.Pro198=) c.140C>T (p.Pro47Leu) c.196C>T n.737C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333216G>C | CA393770965 | POLG,POLGARF | c.539C>G (p.Pro180Arg) c.594C>G (p.Pro198=) c.140C>G (p.Pro47Arg) c.196C>G n.737C>G | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333216G= | CA2194571730 | POLG,POLGARF | c.539C= (p.Pro180=) c.594C= (p.Pro198=) c.140C= (p.Pro47=) c.196C= n.737C= | |
| 15 | g.89333216G>T | CA393770966 | POLG,POLGARF | c.539C>A (p.Pro180His) c.594C>A (p.Pro198=) c.140C>A (p.Pro47His) c.196C>A n.737C>A | |
| 15 | g.89333217G>A | CA10602292 | POLG,POLGARF | c.538C>T (p.Pro180Ser) c.593C>T (p.Pro198Leu) c.139C>T (p.Pro47Ser) c.195C>T n.736C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333217G>C | CA393770967 | POLG,POLGARF | c.538C>G (p.Pro180Ala) c.593C>G (p.Pro198Arg) c.139C>G (p.Pro47Ala) c.195C>G n.736C>G | |
| 15 | g.89333217G= | CA2194571736 | POLG,POLGARF | c.538C= (p.Pro180=) c.593C= (p.Pro198=) c.139C= (p.Pro47=) c.195C= n.736C= | |
| 15 | g.89333217G>T | CA393770969 | POLG,POLGARF | c.538C>A (p.Pro180Thr) c.593C>A (p.Pro198His) c.139C>A (p.Pro47Thr) c.195C>A n.736C>A | |
| 15 | g.89333218G>A | CA274565873 | POLG,POLGARF | c.537C>T (p.Gly179=) c.592C>T (p.Pro198Ser) c.138C>T (p.Gly46=) c.194C>T n.735C>T | dbSNP gnomAD v4 |
| 15 | g.89333218G>C | CA492289987 | POLG,POLGARF | c.537C>G (p.Gly179=) c.592C>G (p.Pro198Ala) c.138C>G (p.Gly46=) c.194C>G n.735C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333218G= | CA2194571745 | POLG,POLGARF | c.537C= (p.Gly179=) c.592C= (p.Pro198=) c.138C= (p.Gly46=) c.194C= n.735C= | |
| 15 | g.89333218G>T | CA492289988 | POLG,POLGARF | c.537C>A (p.Gly179=) c.592C>A (p.Pro198Thr) c.138C>A (p.Gly46=) c.194C>A n.735C>A | gnomAD v4 |
| 15 | g.89333219C>A | CA393770972 | POLG,POLGARF | c.536G>T (p.Gly179Val) c.591G>T (p.Arg197=) c.137G>T (p.Gly46Val) c.193G>T n.734G>T | ClinVar gnomAD v4 |
| 15 | g.89333219C>G | CA393770975 | POLG,POLGARF | c.536G>C (p.Gly179Ala) c.591G>C (p.Arg197=) c.137G>C (p.Gly46Ala) c.193G>C n.734G>C | |
| 15 | g.89333219C>T | CA393770978 | POLG,POLGARF | c.536G>A (p.Gly179Asp) c.591G>A (p.Arg197=) c.137G>A (p.Gly46Asp) c.193G>A n.734G>A | gnomAD v4 |
| 15 | g.89333220C>A | CA393770987 | POLG,POLGARF | c.535G>T (p.Gly179Cys) c.590G>T (p.Arg197Leu) c.136G>T (p.Gly46Cys) c.192G>T n.733G>T | |
| 15 | g.89333220C>G | CA393770982 | POLG,POLGARF | c.535G>C (p.Gly179Arg) c.590G>C (p.Arg197Pro) c.136G>C (p.Gly46Arg) c.192G>C n.733G>C | |
| 15 | g.89333220C>T | CA393770986 | POLG,POLGARF | c.535G>A (p.Gly179Ser) c.590G>A (p.Arg197Gln) c.136G>A (p.Gly46Ser) c.192G>A n.733G>A | dbSNP gnomAD v4 |
| 15 | g.89333221G>A | CA7725100 | POLG,POLGARF | c.534C>T (p.Tyr178=) c.589C>T (p.Arg197Trp) c.135C>T (p.Tyr45=) c.191C>T n.732C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333221G>C | CA393770989 | POLG,POLGARF | c.534C>G (p.Tyr178Ter) c.589C>G (p.Arg197Gly) c.135C>G (p.Tyr45Ter) c.191C>G n.732C>G | |
| 15 | g.89333221G= | CA2194571755 | POLG,POLGARF | c.534C= (p.Tyr178=) c.589C= (p.Arg197=) c.135C= (p.Tyr45=) c.191C= n.732C= | |
| 15 | g.89333221G>T | CA393770991 | POLG,POLGARF | c.534C>A (p.Tyr178Ter) c.589C>A (p.Arg197=) c.135C>A (p.Tyr45Ter) c.191C>A n.732C>A | |
| 15 | g.89333222T>A | CA393770996 | POLG,POLGARF | c.533A>T (p.Tyr178Phe) c.588A>T (p.Val196=) c.134A>T (p.Tyr45Phe) c.190A>T n.731A>T | |
| 15 | g.89333222T>C | CA393771004 | POLG,POLGARF | c.533A>G (p.Tyr178Cys) c.588A>G (p.Val196=) c.134A>G (p.Tyr45Cys) c.190A>G n.731A>G | gnomAD v4 |
| 15 | g.89333222T>G | CA393771008 | POLG,POLGARF | c.533A>C (p.Tyr178Ser) c.588A>C (p.Val196=) c.134A>C (p.Tyr45Ser) c.190A>C n.731A>C | |
| 15 | g.89333223A>C | CA393771016 | POLG,POLGARF | c.532T>G (p.Tyr178Asp) c.587T>G (p.Val196Gly) c.133T>G (p.Tyr45Asp) c.189T>G n.730T>G | |
| 15 | g.89333223A>G | CA393771018 | POLG,POLGARF | c.532T>C (p.Tyr178His) c.587T>C (p.Val196Ala) c.133T>C (p.Tyr45His) c.189T>C n.730T>C | |
| 15 | g.89333223A>T | CA393771022 | POLG,POLGARF | c.532T>A (p.Tyr178Asn) c.587T>A (p.Val196Glu) c.133T>A (p.Tyr45Asn) c.189T>A n.730T>A | |
| 15 | g.89333224C>A | CA492289995 | POLG,POLGARF | c.531G>T (p.Arg177=) c.586G>T (p.Val196Leu) c.132G>T (p.Arg44=) c.188G>T n.729G>T | gnomAD v4 |
| 15 | g.89333224C>G | CA492289997 | POLG,POLGARF | c.531G>C (p.Arg177=) c.586G>C (p.Val196Leu) c.132G>C (p.Arg44=) c.188G>C n.729G>C | |
| 15 | g.89333224C>T | CA492289999 | POLG,POLGARF | c.531G>A (p.Arg177=) c.586G>A (p.Val196Ile) c.132G>A (p.Arg44=) c.188G>A n.729G>A | ClinVar gnomAD v4 |
| 15 | g.89333225C>A | CA393771026 | POLG,POLGARF | c.530G>T (p.Arg177Leu) c.585G>T (p.Pro195=) c.131G>T (p.Arg44Leu) c.187G>T n.728G>T | ClinVar gnomAD v4 |
| 15 | g.89333225C>G | CA393771029 | POLG,POLGARF | c.530G>C (p.Arg177Pro) c.585G>C (p.Pro195=) c.131G>C (p.Arg44Pro) c.187G>C n.728G>C | |
| 15 | g.89333225C>T | CA393771032 | POLG,POLGARF | c.530G>A (p.Arg177Gln) c.585G>A (p.Pro195=) c.131G>A (p.Arg44Gln) c.187G>A n.728G>A | gnomAD v4 |
| 15 | g.89333226G>A | CA393771034 | POLG,POLGARF | c.529C>T (p.Arg177Trp) c.584C>T (p.Pro195Leu) c.130C>T (p.Arg44Trp) c.186C>T n.727C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333226G>C | CA393771036 | POLG,POLGARF | c.529C>G (p.Arg177Gly) c.584C>G (p.Pro195Arg) c.130C>G (p.Arg44Gly) c.186C>G n.727C>G | |
| 15 | g.89333226G= | CA2194571760 | POLG,POLGARF | c.529C= (p.Arg177=) c.584C= (p.Pro195=) c.130C= (p.Arg44=) c.186C= n.727C= | |
| 15 | g.89333226G>T | CA492290001 | POLG,POLGARF | c.529C>A (p.Arg177=) c.584C>A (p.Pro195Gln) c.130C>A (p.Arg44=) c.186C>A n.727C>A | gnomAD v4 |
| 15 | g.89333227G>A | CA7725101 | POLG,POLGARF | c.528C>T (p.Thr176=) c.583C>T (p.Pro195Ser) c.129C>T (p.Thr43=) c.185C>T n.726C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333227G>C | CA492290005 | POLG,POLGARF | c.528C>G (p.Thr176=) c.583C>G (p.Pro195Ala) c.129C>G (p.Thr43=) c.185C>G n.726C>G | |
| 15 | g.89333227G= | CA2194571768 | POLG,POLGARF | c.528C= (p.Thr176=) c.583C= (p.Pro195=) c.129C= (p.Thr43=) c.185C= n.726C= | |
| 15 | g.89333227G>T | CA492290003 | POLG,POLGARF | c.528C>A (p.Thr176=) c.583C>A (p.Pro195Thr) c.129C>A (p.Thr43=) c.185C>A n.726C>A | |
| 15 | g.89333228G>A | CA393771049 | POLG,POLGARF | c.527C>T (p.Thr176Ile) c.582C>T (p.Asp194=) c.128C>T (p.Thr43Ile) c.184C>T n.725C>T | |
| 15 | g.89333228G>C | CA393771043 | POLG,POLGARF | c.527C>G (p.Thr176Ser) c.582C>G (p.Asp194Glu) c.128C>G (p.Thr43Ser) c.184C>G n.725C>G | |
| 15 | g.89333228G>T | CA393771047 | POLG,POLGARF | c.527C>A (p.Thr176Asn) c.582C>A (p.Asp194Glu) c.128C>A (p.Thr43Asn) c.184C>A n.725C>A | |
| 15 | g.89333229T>A | CA393771053 | POLG,POLGARF | c.526A>T (p.Thr176Ser) c.581A>T (p.Asp194Val) c.127A>T (p.Thr43Ser) c.183A>T n.724A>T | |
| 15 | g.89333229T>C | CA393771056 | POLG,POLGARF | c.526A>G (p.Thr176Ala) c.581A>G (p.Asp194Gly) c.127A>G (p.Thr43Ala) c.183A>G n.724A>G | gnomAD v4 |
| 15 | g.89333229T>G | CA393771058 | POLG,POLGARF | c.526A>C (p.Thr176Pro) c.581A>C (p.Asp194Ala) c.127A>C (p.Thr43Pro) c.183A>C n.724A>C | |
| 15 | g.89333230C>A | CA393771062 | POLG,POLGARF | c.525G>T (p.Trp175Cys) c.580G>T (p.Asp194Tyr) c.126G>T (p.Trp42Cys) c.182G>T n.723G>T | gnomAD v4 |
| 15 | g.89333230C>G | CA393771065 | POLG,POLGARF | c.525G>C (p.Trp175Cys) c.580G>C (p.Asp194His) c.126G>C (p.Trp42Cys) c.182G>C n.723G>C | |
| 15 | g.89333230C>T | CA393771068 | POLG,POLGARF | c.525G>A (p.Trp175Ter) c.580G>A (p.Asp194Asn) c.126G>A (p.Trp42Ter) c.182G>A n.723G>A | |
| 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.89333231C>A | CA393771072 | POLG,POLGARF | c.524G>T (p.Trp175Leu) c.579G>T (p.Leu193=) c.125G>T (p.Trp42Leu) c.181G>T n.722G>T | gnomAD v4 |
| 15 | g.89333231C= | CA2194571774 | POLG,POLGARF | c.524G= (p.Trp175=) c.579G= (p.Leu193=) c.125G= (p.Trp42=) c.181G= n.722G= | |
| 15 | g.89333231C>G | CA393771075 | POLG,POLGARF | c.524G>C (p.Trp175Ser) c.579G>C (p.Leu193=) c.125G>C (p.Trp42Ser) c.181G>C n.722G>C | dbSNP |
| 15 | g.89333231C>T | CA393771078 | POLG,POLGARF | c.524G>A (p.Trp175Ter) c.579G>A (p.Leu193=) c.125G>A (p.Trp42Ter) c.181G>A n.722G>A | gnomAD v4 |
| 15 | g.89333232A= | CA2194571779 | POLG,POLGARF | c.523T= (p.Trp175=) c.578T= (p.Leu193=) c.124T= (p.Trp42=) c.180T= n.721T= | |
| 15 | g.89333232A>C | CA393771084 | POLG,POLGARF | c.523T>G (p.Trp175Gly) c.578T>G (p.Leu193Arg) c.124T>G (p.Trp42Gly) c.180T>G n.721T>G | |
| 15 | g.89333232A>G | CA393771082 | POLG,POLGARF | c.523T>C (p.Trp175Arg) c.578T>C (p.Leu193Pro) c.124T>C (p.Trp42Arg) c.180T>C n.721T>C | |
| 15 | g.89333232A>T | CA7725102 | POLG,POLGARF | c.523T>A (p.Trp175Arg) c.578T>A (p.Leu193Gln) c.124T>A (p.Trp42Arg) c.180T>A n.721T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333233G>A | CA492290010 | POLG,POLGARF | c.522C>T (p.Gly174=) c.577C>T (p.Leu193=) c.123C>T (p.Gly41=) c.179C>T n.720C>T | gnomAD v4 |
| 15 | g.89333233G>C | CA7725103 | POLG,POLGARF | c.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 |
| 15 | g.89333233G= | CA2194571794 | POLG,POLGARF | c.522C= (p.Gly174=) c.577C= (p.Leu193=) c.123C= (p.Gly41=) c.179C= n.720C= | |
| 15 | g.89333233G>T | CA492290011 | POLG,POLGARF | c.522C>A (p.Gly174=) c.577C>A (p.Leu193Met) c.123C>A (p.Gly41=) c.179C>A n.720C>A | gnomAD v4 |
| 15 | g.89333234C>A | CA393771091 | POLG,POLGARF | c.521G>T (p.Gly174Val) c.576G>T (p.Gly192=) c.122G>T (p.Gly41Val) c.178G>T n.719G>T | gnomAD v4 |
| 15 | g.89333234C>G | CA393771094 | POLG,POLGARF | c.521G>C (p.Gly174Ala) c.576G>C (p.Gly192=) c.122G>C (p.Gly41Ala) c.178G>C n.719G>C | gnomAD v4 |
| 15 | g.89333234C>T | CA393771097 | POLG,POLGARF | c.521G>A (p.Gly174Asp) c.576G>A (p.Gly192=) c.122G>A (p.Gly41Asp) c.178G>A n.719G>A | gnomAD v4 |
| 15 | g.89333235C>A | CA393771100 | POLG,POLGARF | c.520G>T (p.Gly174Cys) c.575G>T (p.Gly192Val) c.121G>T (p.Gly41Cys) c.177G>T n.718G>T | gnomAD v4 |
| 15 | g.89333235C= | CA2194571803 | POLG,POLGARF | c.520G= (p.Gly174=) c.575G= (p.Gly192=) c.121G= (p.Gly41=) c.177G= n.718G= | |
| 15 | g.89333235C>G | CA393771102 | POLG,POLGARF | c.520G>C (p.Gly174Arg) c.575G>C (p.Gly192Ala) c.121G>C (p.Gly41Arg) c.177G>C n.718G>C | |
| 15 | g.89333235C>T | CA316883 | POLG,POLGARF | c.520G>A (p.Gly174Ser) c.575G>A (p.Gly192Glu) c.121G>A (p.Gly41Ser) c.177G>A n.718G>A | ClinVar dbSNP |
| 15 | g.89333236C>A | CA393771107 | POLG,POLGARF | c.519G>T (p.Glu173Asp) c.574G>T (p.Gly192Trp) c.120G>T (p.Glu40Asp) c.176G>T n.717G>T | gnomAD v4 |
| 15 | g.89333236C= | CA2194571810 | POLG,POLGARF | c.519G= (p.Glu173=) c.574G= (p.Gly192=) c.120G= (p.Glu40=) c.176G= n.717G= | |
| 15 | g.89333236C>G | CA393771109 | POLG,POLGARF | c.519G>C (p.Glu173Asp) c.574G>C (p.Gly192Arg) c.120G>C (p.Glu40Asp) c.176G>C n.717G>C | |
| 15 | g.89333236C>T | CA7725104 | POLG,POLGARF | c.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 |
| 15 | g.89333237T>A | CA393771115 | POLG,POLGARF | c.518A>T (p.Glu173Val) c.573A>T (p.Gly191=) c.119A>T (p.Glu40Val) c.175A>T n.716A>T | |
| 15 | g.89333237T>C | CA393771119 | POLG,POLGARF | c.518A>G (p.Glu173Gly) c.573A>G (p.Gly191=) c.119A>G (p.Glu40Gly) c.175A>G n.716A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333237T>G | CA393771122 | POLG,POLGARF | c.518A>C (p.Glu173Ala) c.573A>C (p.Gly191=) c.119A>C (p.Glu40Ala) c.175A>C n.716A>C | |
| 15 | g.89333238C>A | CA393771132 | POLG,POLGARF | c.517G>T (p.Glu173Ter) c.572G>T (p.Gly191Val) c.118G>T (p.Glu40Ter) c.174G>T n.715G>T | |
| 15 | g.89333238C= | CA2194571817 | POLG,POLGARF | c.517G= (p.Glu173=) c.572G= (p.Gly191=) c.118G= (p.Glu40=) c.174G= n.715G= | |
| 15 | g.89333238C>G | CA393771129 | POLG,POLGARF | c.517G>C (p.Glu173Gln) c.572G>C (p.Gly191Ala) c.118G>C (p.Glu40Gln) c.174G>C n.715G>C | dbSNP |
| 15 | g.89333238C>T | CA393771126 | POLG,POLGARF | c.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 |
| 15 | g.89333239C>A | CA492290013 | POLG,POLGARF | c.516G>T (p.Ala172=) c.571G>T (p.Gly191Ter) c.117G>T (p.Ala39=) c.173G>T n.714G>T | gnomAD v4 |
| 15 | g.89333239C= | CA2194571822 | POLG,POLGARF | c.516G= (p.Ala172=) c.571G= (p.Gly191=) c.117G= (p.Ala39=) c.173G= n.714G= | |
| 15 | g.89333239C>G | CA492290014 | POLG,POLGARF | c.516G>C (p.Ala172=) c.571G>C (p.Gly191Arg) c.117G>C (p.Ala39=) c.173G>C n.714G>C | |
| 15 | g.89333239C>T | CA10602291 | POLG,POLGARF | c.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 |
| 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 |