| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89330155_89330157delinsAGT | CA2194565270 | POLG | c.779_781delinsACT (p.Asp260=) c.380_382delinsACT (p.Asp127=) c.436_438delinsACT n.977_979delinsACT c.*162_*164delinsACT (n.*162_*164delinsACT) | |
| 15 | g.89330156_89330157del | CA7725043 | POLG | c.779_780del (p.Asp260ValfsTer14) c.380_381del (p.Asp127ValfsTer14) c.436_437del n.977_978del c.*162_*163del (n.*162_*163del) | dbSNP ExAC |
| 15 | g.89330157T>A | CA393766906 | POLG | c.779A>T (p.Asp260Val) c.380A>T (p.Asp127Val) c.436A>T n.977A>T c.*162A>T (n.*162A>T) | |
| 15 | g.89330157T>C | CA393766907 | POLG | c.779A>G (p.Asp260Gly) c.380A>G (p.Asp127Gly) c.436A>G n.977A>G c.*162A>G (n.*162A>G) | gnomAD v4 |
| 15 | g.89330157T>G | CA393766909 | POLG | c.779A>C (p.Asp260Ala) c.380A>C (p.Asp127Ala) c.436A>C n.977A>C c.*162A>C (n.*162A>C) | |
| 15 | g.89330158C>A | CA393766911 | POLG | c.778G>T (p.Asp260Tyr) c.379G>T (p.Asp127Tyr) c.435G>T n.976G>T c.*161G>T (n.*161G>T) | |
| 15 | g.89330158C= | CA2194565285 | POLG | c.778G= (p.Asp260=) c.379G= (p.Asp127=) c.435G= n.976G= c.*161G= (n.*161G=) | |
| 15 | g.89330158C>G | CA7725044 | POLG | c.778G>C (p.Asp260His) c.379G>C (p.Asp127His) c.435G>C n.976G>C c.*161G>C (n.*161G>C) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330158C>T | CA393766912 | POLG | c.778G>A (p.Asp260Asn) c.379G>A (p.Asp127Asn) c.435G>A n.976G>A c.*161G>A (n.*161G>A) | |
| 15 | g.89330159T>A | CA393766916 | POLG | c.777A>T (p.Arg259Ser) c.378A>T (p.Arg126Ser) c.434A>T n.975A>T c.*160A>T (n.*160A>T) | |
| 15 | g.89330159T>C | CA492080397 | POLG | c.777A>G (p.Arg259=) c.378A>G (p.Arg126=) c.434A>G n.975A>G c.*160A>G (n.*160A>G) | ClinVar |
| 15 | g.89330159T>G | CA393766914 | POLG | c.777A>C (p.Arg259Ser) c.378A>C (p.Arg126Ser) c.434A>C n.975A>C c.*160A>C (n.*160A>C) | |
| 15 | g.89330160C>A | CA393766918 | POLG | c.776G>T (p.Arg259Ile) c.377G>T (p.Arg126Ile) c.433G>T n.974G>T c.*159G>T (n.*159G>T) | |
| 15 | g.89330160C>G | CA393766919 | POLG | c.776G>C (p.Arg259Thr) c.377G>C (p.Arg126Thr) c.433G>C n.974G>C c.*159G>C (n.*159G>C) | |
| 15 | g.89330160C>T | CA393766921 | POLG | c.776G>A (p.Arg259Lys) c.377G>A (p.Arg126Lys) c.433G>A n.974G>A c.*159G>A (n.*159G>A) | |
| 15 | g.89330161T>A | CA393766923 | POLG | c.775A>T (p.Arg259Ter) c.376A>T (p.Arg126Ter) c.432A>T n.973A>T c.*158A>T (n.*158A>T) | |
| 15 | g.89330161T>C | CA393766925 | POLG | c.775A>G (p.Arg259Gly) c.376A>G (p.Arg126Gly) c.432A>G n.973A>G c.*158A>G (n.*158A>G) | |
| 15 | g.89330161T>G | CA492080414 | POLG | c.775A>C (p.Arg259=) c.376A>C (p.Arg126=) c.432A>C n.973A>C c.*158A>C (n.*158A>C) | |
| 15 | g.89330162C>A | CA393766927 | POLG | c.774G>T (p.Gln258His) c.375G>T (p.Gln125His) c.431G>T n.972G>T c.*157G>T (n.*157G>T) | |
| 15 | g.89330162C>G | CA393766929 | POLG | c.774G>C (p.Gln258His) c.375G>C (p.Gln125His) c.431G>C n.972G>C c.*157G>C (n.*157G>C) | gnomAD v4 |
| 15 | g.89330162C>T | CA492080419 | POLG | c.774G>A (p.Gln258=) c.375G>A (p.Gln125=) c.431G>A n.972G>A c.*157G>A (n.*157G>A) | |
| 15 | g.89330163T>A | CA393766931 | POLG | c.773A>T (p.Gln258Leu) c.374A>T (p.Gln125Leu) c.430A>T n.971A>T c.*156A>T (n.*156A>T) | |
| 15 | g.89330163T>C | CA7725045 | POLG | c.773A>G (p.Gln258Arg) c.374A>G (p.Gln125Arg) c.430A>G n.971A>G c.*156A>G (n.*156A>G) | ClinVar dbSNP ExAC gnomAD v4 |
| 15 | g.89330163T>G | CA393766933 | POLG | c.773A>C (p.Gln258Pro) c.374A>C (p.Gln125Pro) c.430A>C n.971A>C c.*156A>C (n.*156A>C) | |
| 15 | g.89330163T= | CA2194565295 | POLG | c.773A= (p.Gln258=) c.374A= (p.Gln125=) c.430A= n.971A= c.*156A= (n.*156A=) | |
| 15 | g.89330164G>A | CA393766936 | POLG | c.772C>T (p.Gln258Ter) c.373C>T (p.Gln125Ter) c.429C>T n.970C>T c.*155C>T (n.*155C>T) | |
| 15 | g.89330164G>C | CA393766938 | POLG | c.772C>G (p.Gln258Glu) c.373C>G (p.Gln125Glu) c.429C>G n.970C>G c.*155C>G (n.*155C>G) | |
| 15 | g.89330164G>T | CA393766940 | POLG | c.772C>A (p.Gln258Lys) c.373C>A (p.Gln125Lys) c.429C>A n.970C>A c.*155C>A (n.*155C>A) | |
| 15 | g.89330165G>A | CA492080433 | POLG | c.771C>T (p.Thr257=) c.372C>T (p.Thr124=) c.428C>T n.969C>T c.*154C>T (n.*154C>T) | dbSNP |
| 15 | g.89330165G>C | CA492080436 | POLG | c.771C>G (p.Thr257=) c.372C>G (p.Thr124=) c.428C>G n.969C>G c.*154C>G (n.*154C>G) | ClinVar dbSNP |
| 15 | g.89330165G= | CA2194565300 | POLG | c.771C= (p.Thr257=) c.372C= (p.Thr124=) c.428C= n.969C= c.*154C= (n.*154C=) | |
| 15 | g.89330165G>T | CA492080439 | POLG | c.771C>A (p.Thr257=) c.372C>A (p.Thr124=) c.428C>A n.969C>A c.*154C>A (n.*154C>A) | |
| 15 | g.89330166G>A | CA393766941 | POLG | c.770C>T (p.Thr257Ile) c.371C>T (p.Thr124Ile) c.427C>T n.968C>T c.*153C>T (n.*153C>T) | |
| 15 | g.89330166G>C | CA393766944 | POLG | c.770C>G (p.Thr257Ser) c.371C>G (p.Thr124Ser) c.427C>G n.968C>G c.*153C>G (n.*153C>G) | |
| 15 | g.89330166G= | CA2194565308 | POLG | c.770C= (p.Thr257=) c.371C= (p.Thr124=) c.427C= n.968C= c.*153C= (n.*153C=) | |
| 15 | g.89330166G>T | CA393766946 | POLG | c.770C>A (p.Thr257Asn) c.371C>A (p.Thr124Asn) c.427C>A n.968C>A c.*153C>A (n.*153C>A) | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330167T>A | CA393766948 | POLG | c.769A>T (p.Thr257Ser) c.370A>T (p.Thr124Ser) c.426A>T n.967A>T c.*152A>T (n.*152A>T) | gnomAD v4 |
| 15 | g.89330167T>C | CA393766950 | POLG | c.769A>G (p.Thr257Ala) c.370A>G (p.Thr124Ala) c.426A>G n.967A>G c.*152A>G (n.*152A>G) | |
| 15 | g.89330167T>G | CA393766952 | POLG | c.769A>C (p.Thr257Pro) c.370A>C (p.Thr124Pro) c.426A>C n.967A>C c.*152A>C (n.*152A>C) | |
| 15 | g.89330168G>A | CA492080446 | POLG | c.768C>T (p.Pro256=) c.369C>T (p.Pro123=) c.425C>T n.966C>T c.*151C>T (n.*151C>T) | ClinVar gnomAD v4 |
| 15 | g.89330168G>C | CA492080452 | POLG | c.768C>G (p.Pro256=) c.369C>G (p.Pro123=) c.425C>G n.966C>G c.*151C>G (n.*151C>G) | |
| 15 | g.89330168G>T | CA492080448 | POLG | c.768C>A (p.Pro256=) c.369C>A (p.Pro123=) c.425C>A n.966C>A c.*151C>A (n.*151C>A) | |
| 15 | g.89330169G>A | CA393766955 | POLG | c.767C>T (p.Pro256Leu) c.368C>T (p.Pro123Leu) c.424C>T n.965C>T c.*150C>T (n.*150C>T) | |
| 15 | g.89330169G>C | CA393766956 | POLG | c.767C>G (p.Pro256Arg) c.368C>G (p.Pro123Arg) c.424C>G n.965C>G c.*150C>G (n.*150C>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89330169G= | CA2194565316 | POLG | c.767C= (p.Pro256=) c.368C= (p.Pro123=) c.424C= n.965C= c.*150C= (n.*150C=) | |
| 15 | g.89330169G>T | CA393766958 | POLG | c.767C>A (p.Pro256His) c.368C>A (p.Pro123His) c.424C>A n.965C>A c.*150C>A (n.*150C>A) | |
| 15 | g.89330170G>A | CA393766961 | POLG | c.766C>T (p.Pro256Ser) c.367C>T (p.Pro123Ser) c.423C>T n.964C>T c.*149C>T (n.*149C>T) | gnomAD v4 |
| 15 | g.89330170G>C | CA7725046 | POLG | c.766C>G (p.Pro256Ala) c.367C>G (p.Pro123Ala) c.423C>G n.964C>G c.*149C>G (n.*149C>G) | dbSNP ExAC gnomAD v2 |
| 15 | g.89330170G= | CA2194565321 | POLG | c.766C= (p.Pro256=) c.367C= (p.Pro123=) c.423C= n.964C= c.*149C= (n.*149C=) | |
| 15 | g.89330170G>T | CA393766960 | POLG | c.766C>A (p.Pro256Thr) c.367C>A (p.Pro123Thr) c.423C>A n.964C>A c.*149C>A (n.*149C>A) |