Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.89333368_89333375delinsGGGCGGCA | CA2194572300 | POLG,POLGARF | c.380_387delinsTGCCGCCC (p.Leu127=) c.435_442delinsTGCCGCCC (p.Pro145=) c.37_44delinsTGCCGCCC n.578_585delinsTGCCGCCC | |
15 | g.89333373_89333379del | CA16620026 | POLG,POLGARF | c.380_386del (p.Leu127ProfsTer?) c.435_441del (p.Ala146LeufsTer?) c.37_43del n.578_584del | ClinVar dbSNP gnomAD v4 |
15 | g.89333373G>A | CA393772146 | POLG,POLGARF | c.382C>T (p.Pro128Ser) c.437C>T (p.Ala146Val) c.39C>T n.580C>T | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333373G>C | CA393772149 | POLG,POLGARF | c.382C>G (p.Pro128Ala) c.437C>G (p.Ala146Gly) c.39C>G n.580C>G | |
15 | g.89333373G= | CA2194572316 | POLG,POLGARF | c.382C= (p.Pro128=) c.437C= (p.Ala146=) c.39C= n.580C= | |
15 | g.89333373G>T | CA393772152 | POLG,POLGARF | c.382C>A (p.Pro128Thr) c.437C>A (p.Ala146Asp) c.39C>A n.580C>A | gnomAD v4 |
15 | g.89333375_89333383dup | CA972593940 | POLG,POLGARF | c.374_382dup (p.Leu127_Pro128insLeuArgLeu) c.429_437dup (p.Ala146_Ala147insAlaProAla) c.31_39dup n.572_580dup | gnomAD v3 gnomAD v4 |
15 | g.89333374C>A | CA16607929 | POLG,POLGARF | c.381G>T (p.Leu127=) c.436G>T (p.Ala146Ser) c.38G>T n.579G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333374C= | CA2194572319 | POLG,POLGARF | c.381G= (p.Leu127=) c.436G= (p.Ala146=) c.38G= n.579G= | |
15 | g.89333374C>G | CA492290054 | POLG,POLGARF | c.381G>C (p.Leu127=) c.436G>C (p.Ala146Pro) c.38G>C n.579G>C | |
15 | g.89333374C>T | CA492290053 | POLG,POLGARF | c.381G>A (p.Leu127=) c.436G>A (p.Ala146Thr) c.38G>A n.579G>A | ClinVar gnomAD v4 |
15 | g.89333375A>C | CA393772158 | POLG,POLGARF | c.380T>G (p.Leu127Arg) c.435T>G (p.Pro145=) c.37T>G n.578T>G | |
15 | g.89333375A>G | CA393772161 | POLG,POLGARF | c.380T>C (p.Leu127Pro) c.435T>C (p.Pro145=) c.37T>C n.578T>C | gnomAD v4 |
15 | g.89333375A>T | CA393772163 | POLG,POLGARF | c.380T>A (p.Leu127Gln) c.435T>A (p.Pro145=) c.37T>A n.578T>A | |
15 | g.89333376G>A | CA492290055 | POLG,POLGARF | c.379C>T (p.Leu127=) c.434C>T (p.Pro145Leu) c.36C>T n.577C>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333376G>C | CA393772167 | POLG,POLGARF | c.379C>G (p.Leu127Val) c.434C>G (p.Pro145Arg) c.36C>G n.577C>G | |
15 | g.89333376G= | CA2194572326 | POLG,POLGARF | c.379C= (p.Leu127=) c.434C= (p.Pro145=) c.36C= n.577C= | |
15 | g.89333376G>T | CA7725125 | POLG,POLGARF | c.379C>A (p.Leu127Met) c.434C>A (p.Pro145His) c.36C>A n.577C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333377G>A | CA492290056 | POLG,POLGARF | c.378C>T (p.Arg126=) c.433C>T (p.Pro145Ser) c.35C>T n.576C>T | gnomAD v4 |
15 | g.89333377G>C | CA492290058 | POLG,POLGARF | c.378C>G (p.Arg126=) c.433C>G (p.Pro145Ala) c.35C>G n.576C>G | ClinVar dbSNP |
15 | g.89333377G= | CA2194572328 | POLG,POLGARF | c.378C= (p.Arg126=) c.433C= (p.Pro145=) c.35C= n.576C= | |
15 | g.89333377G>T | CA7725126 | POLG,POLGARF | c.378C>A (p.Arg126=) c.433C>A (p.Pro145Thr) c.35C>A n.576C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
15 | g.89333378C>A | CA274566027 | POLG,POLGARF | c.377G>T (p.Arg126Leu) c.432G>T (p.Ala144=) c.34G>T n.575G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.89333378C= | CA2194572333 | POLG,POLGARF | c.377G= (p.Arg126=) c.432G= (p.Ala144=) c.34G= n.575G= | |
15 | g.89333378C>G | CA393772182 | POLG,POLGARF | c.377G>C (p.Arg126Pro) c.432G>C (p.Ala144=) c.34G>C n.575G>C | |
15 | g.89333378C>T | CA393772179 | POLG,POLGARF | c.377G>A (p.Arg126His) c.432G>A (p.Ala144=) c.34G>A n.575G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>A | CA274566028 | POLG,POLGARF | c.376C>T (p.Arg126Cys) c.431C>T (p.Ala144Val) c.33C>T n.574C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
15 | g.89333379G>C | CA393772188 | POLG,POLGARF | c.376C>G (p.Arg126Gly) c.431C>G (p.Ala144Gly) c.33C>G n.574C>G | |
15 | g.89333379G= | CA2194572337 | POLG,POLGARF | c.376C= (p.Arg126=) c.431C= (p.Ala144=) c.33C= n.574C= | |
15 | g.89333379G>T | CA393772192 | POLG,POLGARF | c.376C>A (p.Arg126Ser) c.431C>A (p.Ala144Glu) c.33C>A n.574C>A | gnomAD v4 |
15 | g.89333380C>A | CA492290060 | POLG,POLGARF | c.375G>T (p.Leu125=) c.430G>T (p.Ala144Ser) c.32G>T n.573G>T | gnomAD v4 |
15 | g.89333380C>G | CA492290062 | POLG,POLGARF | c.375G>C (p.Leu125=) c.430G>C (p.Ala144Pro) c.32G>C n.573G>C | |
15 | g.89333380C>T | CA492290064 | POLG,POLGARF | c.375G>A (p.Leu125=) c.430G>A (p.Ala144Thr) c.32G>A n.573G>A | |
15 | g.89333381A>C | CA393772198 | POLG,POLGARF | c.374T>G (p.Leu125Arg) c.429T>G (p.Ala143=) c.31T>G n.572T>G | gnomAD v4 |
15 | g.89333381A>G | CA393772201 | POLG,POLGARF | c.374T>C (p.Leu125Pro) c.429T>C (p.Ala143=) c.31T>C n.572T>C | |
15 | g.89333381A>T | CA393772203 | POLG,POLGARF | c.374T>A (p.Leu125Gln) c.429T>A (p.Ala143=) c.31T>A n.572T>A | |
15 | g.89333382G>A | CA492290066 | POLG,POLGARF | c.373C>T (p.Leu125=) c.428C>T (p.Ala143Val) c.30C>T n.571C>T | gnomAD v4 |
15 | g.89333382G>C | CA393772214 | POLG,POLGARF | c.373C>G (p.Leu125Val) c.428C>G (p.Ala143Gly) c.30C>G n.571C>G | ClinVar gnomAD v4 |
15 | g.89333382G>T | CA393772216 | POLG,POLGARF | c.373C>A (p.Leu125Met) c.428C>A (p.Ala143Asp) c.30C>A n.571C>A | gnomAD v4 COSMIC |
15 | g.89333383C>A | CA393772222 | POLG,POLGARF | c.372G>T (p.Glu124Asp) c.427G>T (p.Ala143Ser) c.29G>T n.570G>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333383C= | CA2194572339 | POLG,POLGARF | c.372G= (p.Glu124=) c.427G= (p.Ala143=) c.29G= n.570G= | |
15 | g.89333383C>G | CA274566030 | POLG,POLGARF | c.372G>C (p.Glu124Asp) c.427G>C (p.Ala143Pro) c.29G>C n.570G>C | dbSNP |
15 | g.89333383C>T | CA492290068 | POLG,POLGARF | c.372G>A (p.Glu124=) c.427G>A (p.Ala143Thr) c.29G>A n.570G>A | |
15 | g.89333384T>A | CA393772231 | POLG,POLGARF | c.371A>T (p.Glu124Val) c.426A>T (p.Gly142=) c.28A>T n.569A>T | ClinVar dbSNP gnomAD v4 |
15 | g.89333384T>C | CA393772237 | POLG,POLGARF | c.371A>G (p.Glu124Gly) c.426A>G (p.Gly142=) c.28A>G n.569A>G | dbSNP gnomAD v2 gnomAD v4 |
15 | g.89333384T>G | CA393772247 | POLG,POLGARF | c.371A>C (p.Glu124Ala) c.426A>C (p.Gly142=) c.28A>C n.569A>C | |
15 | g.89333384T= | CA2194572342 | POLG,POLGARF | c.371A= (p.Glu124=) c.426A= (p.Gly142=) c.28A= n.569A= | |
15 | g.89333385C>A | CA393772251 | POLG,POLGARF | c.370G>T (p.Glu124Ter) c.425G>T (p.Gly142Val) c.27G>T n.568G>T | gnomAD v4 |
15 | g.89333385C>G | CA393772259 | POLG,POLGARF | c.370G>C (p.Glu124Gln) c.425G>C (p.Gly142Ala) c.27G>C n.568G>C | |
15 | g.89333385C>T | CA393772255 | POLG,POLGARF | c.370G>A (p.Glu124Lys) c.425G>A (p.Gly142Glu) c.27G>A n.568G>A | gnomAD v4 |