Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.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.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 |