| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89333524C>A | CA7725156 | POLG,POLGARF | c.231G>T (p.Gln77His) c.286G>T (p.Asp96Tyr) n.429G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333524C= | CA2194572884 | POLG,POLGARF | c.231G= (p.Gln77=) c.286G= (p.Asp96=) n.429G= | |
| 15 | g.89333524C>G | CA7725157 | POLG,POLGARF | c.231G>C (p.Gln77His) c.286G>C (p.Asp96His) n.429G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333524C>T | CA492290035 | POLG,POLGARF | c.231G>A (p.Gln77=) c.286G>A (p.Asp96Asn) n.429G>A | dbSNP |
| 15 | g.89333525T>A | CA393773407 | POLG,POLGARF | c.230A>T (p.Gln77Leu) c.285A>T (p.Pro95=) n.428A>T | |
| 15 | g.89333525T>C | CA393773410 | POLG,POLGARF | c.230A>G (p.Gln77Arg) c.285A>G (p.Pro95=) n.428A>G | dbSNP |
| 15 | g.89333525T>G | CA393773412 | POLG,POLGARF | c.230A>C (p.Gln77Pro) c.285A>C (p.Pro95=) n.428A>C | |
| 15 | g.89333525T= | CA2194572892 | POLG,POLGARF | c.230A= (p.Gln77=) c.285A= (p.Pro95=) n.428A= | |
| 15 | g.89333526G>A | CA393773418 | POLG,POLGARF | c.229C>T (p.Gln77Ter) c.284C>T (p.Pro95Leu) n.427C>T | ClinVar gnomAD v4 |
| 15 | g.89333526G>C | CA393773421 | POLG,POLGARF | c.229C>G (p.Gln77Glu) c.284C>G (p.Pro95Arg) n.427C>G | |
| 15 | g.89333526G>T | CA393773424 | POLG,POLGARF | c.229C>A (p.Gln77Lys) c.284C>A (p.Pro95Gln) n.427C>A | |
| 15 | g.89333527del | CA2573151276 | POLG,POLGARF | c.229del (p.Gln77ArgfsTer?) c.284del (p.Pro95GlnfsTer?) n.427del | ClinVar dbSNP |
| 15 | g.89333527G>A | CA492290038 | POLG,POLGARF | c.228C>T (p.Ile76=) c.283C>T (p.Pro95Ser) n.426C>T | ClinVar |
| 15 | g.89333527G>C | CA7725158 | POLG,POLGARF | c.228C>G (p.Ile76Met) c.283C>G (p.Pro95Ala) n.426C>G | dbSNP ExAC |
| 15 | g.89333527G= | CA2194572900 | POLG,POLGARF | c.228C= (p.Ile76=) c.283C= (p.Pro95=) n.426C= | |
| 15 | g.89333527G>T | CA492290039 | POLG,POLGARF | c.228C>A (p.Ile76=) c.283C>A (p.Pro95Thr) n.426C>A | gnomAD v4 |
| 15 | g.89333528A>C | CA393773430 | POLG,POLGARF | c.227T>G (p.Ile76Ser) c.282T>G (p.His94Gln) n.425T>G | |
| 15 | g.89333528A>G | CA393773428 | POLG,POLGARF | c.227T>C (p.Ile76Thr) c.282T>C (p.His94=) n.425T>C | |
| 15 | g.89333528A>T | CA393773429 | POLG,POLGARF | c.227T>A (p.Ile76Asn) c.282T>A (p.His94Gln) n.425T>A | gnomAD v4 |
| 15 | g.89333529T>A | CA393773432 | POLG,POLGARF | c.226A>T (p.Ile76Phe) c.281A>T (p.His94Leu) n.424A>T | |
| 15 | g.89333529T>C | CA393773440 | POLG,POLGARF | c.226A>G (p.Ile76Val) c.281A>G (p.His94Arg) n.424A>G | dbSNP gnomAD v4 |
| 15 | g.89333529T>G | CA393773441 | POLG,POLGARF | c.226A>C (p.Ile76Leu) c.281A>C (p.His94Pro) n.424A>C | |
| 15 | g.89333529T= | CA2194572905 | POLG,POLGARF | c.226A= (p.Ile76=) c.281A= (p.His94=) n.424A= | |
| 15 | g.89333530G>A | CA7725159 | POLG,POLGARF | c.225C>T (p.Asp75=) c.280C>T (p.His94Tyr) n.423C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333530G>C | CA393773443 | POLG,POLGARF | c.225C>G (p.Asp75Glu) c.280C>G (p.His94Asp) n.423C>G | |
| 15 | g.89333530G= | CA2194572907 | POLG,POLGARF | c.225C= (p.Asp75=) c.280C= (p.His94=) n.423C= | |
| 15 | g.89333530G>T | CA393773442 | POLG,POLGARF | c.225C>A (p.Asp75Glu) c.280C>A (p.His94Asn) n.423C>A | |
| 15 | g.89333531T>A | CA393773447 | POLG,POLGARF | c.224A>T (p.Asp75Val) c.279A>T (p.Gly93=) n.422A>T | |
| 15 | g.89333531T>C | CA393773450 | POLG,POLGARF | c.224A>G (p.Asp75Gly) c.279A>G (p.Gly93=) n.422A>G | |
| 15 | g.89333531T>G | CA393773453 | POLG,POLGARF | c.224A>C (p.Asp75Ala) c.279A>C (p.Gly93=) n.422A>C | |
| 15 | g.89333532C>A | CA393773458 | POLG,POLGARF | c.223G>T (p.Asp75Tyr) c.278G>T (p.Gly93Val) n.421G>T | |
| 15 | g.89333532C>G | CA393773460 | POLG,POLGARF | c.223G>C (p.Asp75His) c.278G>C (p.Gly93Ala) n.421G>C | |
| 15 | g.89333532C>T | CA393773462 | POLG,POLGARF | c.223G>A (p.Asp75Asn) c.278G>A (p.Gly93Glu) n.421G>A | |
| 15 | g.89333533C>A | CA393773470 | POLG,POLGARF | c.222G>T (p.Leu74Phe) c.277G>T (p.Gly93Ter) n.420G>T | COSMIC |
| 15 | g.89333533C= | CA2194572910 | POLG,POLGARF | c.222G= (p.Leu74=) c.277G= (p.Gly93=) n.420G= | |
| 15 | g.89333533C>G | CA393773464 | POLG,POLGARF | c.222G>C (p.Leu74Phe) c.277G>C (p.Gly93Arg) n.420G>C | |
| 15 | g.89333533C>T | CA7725160 | POLG,POLGARF | c.222G>A (p.Leu74=) c.277G>A (p.Gly93Arg) n.420G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.89333534A>C | CA393773474 | POLG,POLGARF | c.221T>G (p.Leu74Trp) c.276T>G (p.Ile92Met) n.419T>G | gnomAD v4 |
| 15 | g.89333534A>G | CA393773476 | POLG,POLGARF | c.221T>C (p.Leu74Ser) c.276T>C (p.Ile92=) n.419T>C | |
| 15 | g.89333534A>T | CA393773477 | POLG,POLGARF | c.221T>A (p.Leu74Ter) c.276T>A (p.Ile92=) n.419T>A | |
| 15 | g.89333535_89333565del | CA2630256941 | POLG,POLGARF | c.191_221del (p.Ser64TrpfsTer?) c.246_276del (p.Gly83AspfsTer?) n.389_419del | gnomAD v4 |
| 15 | g.89333535A= | CA2194572913 | POLG,POLGARF | c.220T= (p.Leu74=) c.275T= (p.Ile92=) n.418T= | |
| 15 | g.89333535A>C | CA393773478 | POLG,POLGARF | c.220T>G (p.Leu74Val) c.275T>G (p.Ile92Ser) n.418T>G | |
| 15 | g.89333535A>G | CA492290043 | POLG,POLGARF | c.220T>C (p.Leu74=) c.275T>C (p.Ile92Thr) n.418T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333535A>T | CA393773479 | POLG,POLGARF | c.220T>A (p.Leu74Met) c.275T>A (p.Ile92Asn) n.418T>A | gnomAD v4 |
| 15 | g.89333536T>A | CA492290044 | POLG,POLGARF | c.219A>T (p.Pro73=) c.274A>T (p.Ile92Phe) n.417A>T | ClinVar |
| 15 | g.89333536T>C | CA492290045 | POLG,POLGARF | c.219A>G (p.Pro73=) c.274A>G (p.Ile92Val) n.417A>G | ClinVar gnomAD v4 |
| 15 | g.89333536T>G | CA492290046 | POLG,POLGARF | c.219A>C (p.Pro73=) c.274A>C (p.Ile92Leu) n.417A>C | |
| 15 | g.89333537G>A | CA274566286 | POLG,POLGARF | c.218C>T (p.Pro73Leu) c.273C>T (p.Pro91=) n.416C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333537G>C | CA393773483 | POLG,POLGARF | c.218C>G (p.Pro73Arg) c.273C>G (p.Pro91=) n.416C>G | dbSNP gnomAD v2 gnomAD v4 |