UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89333641_89333650dup | CA2739269696 | POLG,POLGARF | c.110_119dup (p.Arg42AlafsTer?) c.165_174dup (p.Ala59ThrfsTer?) n.308_317dup | ClinVar |
| 15 | g.89333647G>A | CA492290551 | POLG,POLGARF | c.108C>T (p.Ser36=) c.163C>T (p.Arg55Ter) n.306C>T | gnomAD v4 |
| 15 | g.89333647G>C | CA393774739 | POLG,POLGARF | c.108C>G (p.Ser36Arg) c.163C>G (p.Arg55Gly) n.306C>G | dbSNP |
| 15 | g.89333647G= | CA2194573721 | POLG,POLGARF | c.108C= (p.Ser36=) c.163C= (p.Arg55=) n.306C= | |
| 15 | g.89333647G>T | CA393774743 | POLG,POLGARF | c.108C>A (p.Ser36Arg) c.163C>A (p.Arg55=) n.306C>A | gnomAD v4 |
| 15 | g.89333648C>A | CA393774748 | POLG,POLGARF | c.107G>T (p.Ser36Ile) c.162G>T (p.Gln54His) n.305G>T | |
| 15 | g.89333648C= | CA2194573727 | POLG,POLGARF | c.107G= (p.Ser36=) c.162G= (p.Gln54=) n.305G= | |
| 15 | g.89333648C>G | CA393774751 | POLG,POLGARF | c.107G>C (p.Ser36Thr) c.162G>C (p.Gln54His) n.305G>C | ClinVar dbSNP |
| 15 | g.89333648C>T | CA393774754 | POLG,POLGARF | c.107G>A (p.Ser36Asn) c.162G>A (p.Gln54=) n.305G>A | gnomAD v4 |
| 15 | g.89333649T>A | CA393774756 | POLG,POLGARF | c.106A>T (p.Ser36Cys) c.161A>T (p.Gln54Leu) n.304A>T | |
| 15 | g.89333649T>C | CA393774757 | POLG,POLGARF | c.106A>G (p.Ser36Gly) c.161A>G (p.Gln54Arg) n.304A>G | gnomAD v4 |
| 15 | g.89333649T>G | CA393774758 | POLG,POLGARF | c.106A>C (p.Ser36Arg) c.161A>C (p.Gln54Pro) n.304A>C | |
| 15 | g.89333650G>A | CA492290561 | POLG,POLGARF | c.105C>T (p.Pro35=) c.160C>T (p.Gln54Ter) n.303C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333650G>C | CA492290560 | POLG,POLGARF | c.105C>G (p.Pro35=) c.160C>G (p.Gln54Glu) n.303C>G | |
| 15 | g.89333650G= | CA2194573735 | POLG,POLGARF | c.105C= (p.Pro35=) c.160C= (p.Gln54=) n.303C= | |
| 15 | g.89333650G>T | CA492290559 | POLG,POLGARF | c.105C>A (p.Pro35=) c.160C>A (p.Gln54Lys) n.303C>A | gnomAD v4 |
| 15 | g.89333650_89333657del | CA2805168383 | POLG,POLGARF | c.98_105del (p.Ser33Ter) c.153_160del (p.Arg52AlafsTer?) n.296_303del | |
| 15 | g.89333651G>A | CA7725206 | POLG,POLGARF | c.104C>T (p.Pro35Leu) c.159C>T (p.Pro53=) n.302C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333651G>C | CA393774762 | POLG,POLGARF | c.104C>G (p.Pro35Arg) c.159C>G (p.Pro53=) n.302C>G | |
| 15 | g.89333651G= | CA2194573740 | POLG,POLGARF | c.104C= (p.Pro35=) c.159C= (p.Pro53=) n.302C= | |
| 15 | g.89333651G>T | CA393774768 | POLG,POLGARF | c.104C>A (p.Pro35His) c.159C>A (p.Pro53=) n.302C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333652G>A | CA393774774 | POLG,POLGARF | c.103C>T (p.Pro35Ser) c.158C>T (p.Pro53Leu) n.301C>T | gnomAD v4 |
| 15 | g.89333652G>C | CA393774775 | POLG,POLGARF | c.103C>G (p.Pro35Ala) c.158C>G (p.Pro53Arg) n.301C>G | |
| 15 | g.89333652G>T | CA393774777 | POLG,POLGARF | c.103C>A (p.Pro35Thr) c.158C>A (p.Pro53His) n.301C>A | |
| 15 | g.89333653G>A | CA492290573 | POLG,POLGARF | c.102C>T (p.Asp34=) c.157C>T (p.Pro53Ser) n.300C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333653G>C | CA393774778 | POLG,POLGARF | c.102C>G (p.Asp34Glu) c.157C>G (p.Pro53Ala) n.300C>G | |
| 15 | g.89333653G= | CA2194573743 | POLG,POLGARF | c.102C= (p.Asp34=) c.157C= (p.Pro53=) n.300C= | |
| 15 | g.89333653G>T | CA393774780 | POLG,POLGARF | c.102C>A (p.Asp34Glu) c.157C>A (p.Pro53Thr) n.300C>A | gnomAD v4 |
| 15 | g.89333654T>A | CA7725207 | POLG,POLGARF | c.101A>T (p.Asp34Val) c.156A>T (p.Arg52=) n.299A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333654T>C | CA16620029 | POLG,POLGARF | c.101A>G (p.Asp34Gly) c.156A>G (p.Arg52=) n.299A>G | ClinVar dbSNP |
| 15 | g.89333654T>G | CA393774790 | POLG,POLGARF | c.101A>C (p.Asp34Ala) c.156A>C (p.Arg52=) n.299A>C | |
| 15 | g.89333654T= | CA2194573755 | POLG,POLGARF | c.101A= (p.Asp34=) c.156A= (p.Arg52=) n.299A= | |
| 15 | g.89333655C>A | CA393774791 | POLG,POLGARF | c.100G>T (p.Asp34Tyr) c.155G>T (p.Arg52Leu) n.298G>T | dbSNP |
| 15 | g.89333655C= | CA2194573764 | POLG,POLGARF | c.100G= (p.Asp34=) c.155G= (p.Arg52=) n.298G= | |
| 15 | g.89333655C>G | CA393774794 | POLG,POLGARF | c.100G>C (p.Asp34His) c.155G>C (p.Arg52Pro) n.298G>C | |
| 15 | g.89333655C>T | CA393774796 | POLG,POLGARF | c.100G>A (p.Asp34Asn) c.155G>A (p.Arg52Gln) n.298G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333659_89333670del | CA2697549290 | POLG,POLGARF | c.89_100del (p.Val30_Ser33del) c.144_155del (p.Pro49_Arg52del) n.287_298del | ClinVar |
| 15 | g.89333655_89333656insA | CA716918419 | POLG,POLGARF | c.99_100insT (p.Asp34Ter) c.154_155insT (p.Arg52LeufsTer?) n.297_298insT | dbSNP |
| 15 | g.89333656G>A | CA492290581 | POLG,POLGARF | c.99C>T (p.Ser33=) c.154C>T (p.Arg52Ter) n.297C>T | gnomAD v4 |
| 15 | g.89333656G>C | CA492290582 | POLG,POLGARF | c.99C>G (p.Ser33=) c.154C>G (p.Arg52Gly) n.297C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333656G= | CA2194573769 | POLG,POLGARF | c.99C= (p.Ser33=) c.154C= (p.Arg52=) n.297C= | |
| 15 | g.89333656G>T | CA492290584 | POLG,POLGARF | c.99C>A (p.Ser33=) c.154C>A (p.Arg52=) n.297C>A | gnomAD v4 |
| 15 | g.89333657G>A | CA393774802 | POLG,POLGARF | c.98C>T (p.Ser33Phe) c.153C>T (p.Val51=) n.296C>T | |
| 15 | g.89333657G>C | CA316752 | POLG,POLGARF | c.98C>G (p.Ser33Cys) c.153C>G (p.Val51=) n.296C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333657G= | CA2194573777 | POLG,POLGARF | c.98C= (p.Ser33=) c.153C= (p.Val51=) n.296C= | |
| 15 | g.89333657G>T | CA393774810 | POLG,POLGARF | c.98C>A (p.Ser33Tyr) c.153C>A (p.Val51=) n.296C>A | gnomAD v4 |
| 15 | g.89333658A>C | CA393774824 | POLG,POLGARF | c.97T>G (p.Ser33Ala) c.152T>G (p.Val51Gly) n.295T>G | |
| 15 | g.89333658A>G | CA393774825 | POLG,POLGARF | c.97T>C (p.Ser33Pro) c.152T>C (p.Val51Ala) n.295T>C | |
| 15 | g.89333658A>T | CA393774826 | POLG,POLGARF | c.97T>A (p.Ser33Thr) c.152T>A (p.Val51Asp) n.295T>A | |
| 15 | g.89333659C>A | CA492290592 | POLG,POLGARF | c.96G>T (p.Ala32=) c.151G>T (p.Val51Phe) n.294G>T | ClinVar gnomAD v4 |
| 15 | g.89333659C= | CA2194573781 | POLG,POLGARF | c.96G= (p.Ala32=) c.151G= (p.Val51=) n.294G= | |
| 15 | g.89333659C>G | CA492290593 | POLG,POLGARF | c.96G>C (p.Ala32=) c.151G>C (p.Val51Leu) n.294G>C | ClinVar dbSNP |
| 15 | g.89333659C>T | CA492290594 | POLG,POLGARF | c.96G>A (p.Ala32=) c.151G>A (p.Val51Ile) n.294G>A | ClinVar gnomAD v4 |
| 15 | g.89333660G>A | CA393774831 | POLG,POLGARF | c.95C>T (p.Ala32Val) c.150C>T (p.Arg50=) n.293C>T | gnomAD v4 COSMIC |
| 15 | g.89333660G>C | CA393774827 | POLG,POLGARF | c.95C>G (p.Ala32Gly) c.150C>G (p.Arg50=) n.293C>G | |
| 15 | g.89333660G>T | CA393774830 | POLG,POLGARF | c.95C>A (p.Ala32Glu) c.150C>A (p.Arg50=) n.293C>A | gnomAD v4 |
| 15 | g.89333661C>A | CA393774832 | POLG,POLGARF | c.94G>T (p.Ala32Ser) c.149G>T (p.Arg50Leu) n.292G>T | gnomAD v4 |
| 15 | g.89333661C= | CA2194573786 | POLG,POLGARF | c.94G= (p.Ala32=) c.149G= (p.Arg50=) n.292G= | |
| 15 | g.89333661C>G | CA393774836 | POLG,POLGARF | c.94G>C (p.Ala32Pro) c.149G>C (p.Arg50Pro) n.292G>C | |
| 15 | g.89333661C>T | CA7725208 | POLG,POLGARF | c.94G>A (p.Ala32Thr) c.149G>A (p.Arg50His) n.292G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333662G>A | CA492290600 | POLG,POLGARF | c.93C>T (p.Pro31=) c.148C>T (p.Arg50Cys) n.291C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333662G>C | CA492290602 | POLG,POLGARF | c.93C>G (p.Pro31=) c.148C>G (p.Arg50Gly) n.291C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333662G= | CA2194573789 | POLG,POLGARF | c.93C= (p.Pro31=) c.148C= (p.Arg50=) n.291C= | |
| 15 | g.89333662G>T | CA492290604 | POLG,POLGARF | c.93C>A (p.Pro31=) c.148C>A (p.Arg50Ser) n.291C>A | gnomAD v4 |
| 15 | g.89333665del | CA2630256984 | POLG,POLGARF | c.93del (p.Ala32ArgfsTer?) c.148del (p.Arg50AlafsTer?) n.291del | gnomAD v4 |
| 15 | g.89333663G>A | CA393774841 | POLG,POLGARF | c.92C>T (p.Pro31Leu) c.147C>T (p.Pro49=) n.290C>T | gnomAD v4 |
| 15 | g.89333663G>C | CA393774844 | POLG,POLGARF | c.92C>G (p.Pro31Arg) c.147C>G (p.Pro49=) n.290C>G | |
| 15 | g.89333663G>T | CA393774846 | POLG,POLGARF | c.92C>A (p.Pro31His) c.147C>A (p.Pro49=) n.290C>A | gnomAD v4 |
| 15 | g.89333664G>A | CA393774849 | POLG,POLGARF | c.91C>T (p.Pro31Ser) c.146C>T (p.Pro49Leu) n.289C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333664G>C | CA393774850 | POLG,POLGARF | c.91C>G (p.Pro31Ala) c.146C>G (p.Pro49Arg) n.289C>G | |
| 15 | g.89333664G= | CA2194573790 | POLG,POLGARF | c.91C= (p.Pro31=) c.146C= (p.Pro49=) n.289C= | |
| 15 | g.89333664G>T | CA393774853 | POLG,POLGARF | c.91C>A (p.Pro31Thr) c.146C>A (p.Pro49His) n.289C>A | gnomAD v4 |
| 15 | g.89333665G>A | CA492290613 | POLG,POLGARF | c.90C>T (p.Val30=) c.145C>T (p.Pro49Ser) n.288C>T | gnomAD v4 |
| 15 | g.89333665G>C | CA492290614 | POLG,POLGARF | c.90C>G (p.Val30=) c.145C>G (p.Pro49Ala) n.288C>G | |
| 15 | g.89333665G>T | CA492290615 | POLG,POLGARF | c.90C>A (p.Val30=) c.145C>A (p.Pro49Thr) n.288C>A | gnomAD v4 |
| 15 | g.89333666A>C | CA393774865 | POLG,POLGARF | c.89T>G (p.Val30Gly) c.144T>G (p.Arg48=) n.287T>G | |
| 15 | g.89333666A>G | CA393774870 | POLG,POLGARF | c.89T>C (p.Val30Ala) c.144T>C (p.Arg48=) n.287T>C | gnomAD v4 |
| 15 | g.89333666A>T | CA393774874 | POLG,POLGARF | c.89T>A (p.Val30Asp) c.144T>A (p.Arg48=) n.287T>A | |
| 15 | g.89333666_89333688delinsACGGAGCTGGAGACCCAGCGCCC | CA2194573793 | POLG,POLGARF | c.67_89delinsGGGCGCTGGGTCTCCAGCTCCGT (p.Gly23=) c.122_144delinsGGGCGCTGGGTCTCCAGCTCCGT (p.Gly41=) n.265_287delinsGGGCGCTGGGTCTCCAGCTCCGT | |
| 15 | g.89333667C>A | CA393774881 | POLG,POLGARF | c.88G>T (p.Val30Phe) c.143G>T (p.Arg48Leu) n.286G>T | gnomAD v4 |
| 15 | g.89333667C= | CA2194573797 | POLG,POLGARF | c.88G= (p.Val30=) c.143G= (p.Arg48=) n.286G= | |
| 15 | g.89333667C>G | CA393774883 | POLG,POLGARF | c.88G>C (p.Val30Leu) c.143G>C (p.Arg48Pro) n.286G>C | |
| 15 | g.89333667C>T | CA393774878 | POLG,POLGARF | c.88G>A (p.Val30Ile) c.143G>A (p.Arg48His) n.286G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333677_89333698del | CA1139664125 | POLG,POLGARF | c.67_88del (p.Gly23SerfsTer?) c.122_143del (p.Gly41ValfsTer?) n.265_286del | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333668G>A | CA292838 | POLG,POLGARF | c.87C>T (p.Ser29=) c.142C>T (p.Arg48Cys) n.285C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333668G>C | CA492290627 | POLG,POLGARF | c.87C>G (p.Ser29=) c.142C>G (p.Arg48Gly) n.285C>G | ClinVar |
| 15 | g.89333668G= | CA2194573801 | POLG,POLGARF | c.87C= (p.Ser29=) c.142C= (p.Arg48=) n.285C= | |
| 15 | g.89333668G>T | CA492290628 | POLG,POLGARF | c.87C>A (p.Ser29=) c.142C>A (p.Arg48Ser) n.285C>A | gnomAD v4 |
| 15 | g.89333669G>A | CA393774888 | POLG,POLGARF | c.86C>T (p.Ser29Phe) c.141C>T (p.Leu47=) n.284C>T | |
| 15 | g.89333669G>C | CA316744 | POLG,POLGARF | c.86C>G (p.Ser29Cys) c.141C>G (p.Leu47=) n.284C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333669G= | CA2194573804 | POLG,POLGARF | c.86C= (p.Ser29=) c.141C= (p.Leu47=) n.284C= | |
| 15 | g.89333669G>T | CA393774895 | POLG,POLGARF | c.86C>A (p.Ser29Tyr) c.141C>A (p.Leu47=) n.284C>A | |
| 15 | g.89333670A>C | CA393774898 | POLG,POLGARF | c.85T>G (p.Ser29Ala) c.140T>G (p.Leu47Arg) n.283T>G | gnomAD v4 |
| 15 | g.89333670A>G | CA393774901 | POLG,POLGARF | c.85T>C (p.Ser29Pro) c.140T>C (p.Leu47Pro) n.283T>C | ClinVar gnomAD v4 |
| 15 | g.89333670A>T | CA393774902 | POLG,POLGARF | c.85T>A (p.Ser29Thr) c.140T>A (p.Leu47His) n.283T>A | |
| 15 | g.89333671G>A | CA492290638 | POLG,POLGARF | c.84C>T (p.Ser28=) c.139C>T (p.Leu47Phe) n.282C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333671G>C | CA393774903 | POLG,POLGARF | c.84C>G (p.Ser28Arg) c.139C>G (p.Leu47Val) n.282C>G | dbSNP |
| 15 | g.89333671G= | CA2194573810 | POLG,POLGARF | c.84C= (p.Ser28=) c.139C= (p.Leu47=) n.282C= | |
| 15 | g.89333671G>T | CA393774904 | POLG,POLGARF | c.84C>A (p.Ser28Arg) c.139C>A (p.Leu47Ile) n.282C>A | gnomAD v4 |
| 15 | g.89333672C>A | CA393774905 | POLG,POLGARF | c.83G>T (p.Ser28Ile) c.138G>T (p.Gln46His) n.281G>T | |
| 15 | g.89333672C= | CA2194573815 | POLG,POLGARF | c.83G= (p.Ser28=) c.138G= (p.Gln46=) n.281G= | |
| 15 | g.89333672C>G | CA393774907 | POLG,POLGARF | c.83G>C (p.Ser28Thr) c.138G>C (p.Gln46His) n.281G>C | gnomAD v4 |
| 15 | g.89333672C>T | CA393774909 | POLG,POLGARF | c.83G>A (p.Ser28Asn) c.138G>A (p.Gln46=) n.281G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333673T>A | CA10602299 | POLG,POLGARF | c.82A>T (p.Ser28Cys) c.137A>T (p.Gln46Leu) n.280A>T | ClinVar dbSNP |
| 15 | g.89333673T>C | CA393774915 | POLG,POLGARF | c.82A>G (p.Ser28Gly) c.137A>G (p.Gln46Arg) n.280A>G | gnomAD v4 |
| 15 | g.89333673T>G | CA393774917 | POLG,POLGARF | c.82A>C (p.Ser28Arg) c.137A>C (p.Gln46Pro) n.280A>C | dbSNP |
| 15 | g.89333673T= | CA2194573820 | POLG,POLGARF | c.82A= (p.Ser28=) c.137A= (p.Gln46=) n.280A= | |
| 15 | g.89333674G>A | CA492290643 | POLG,POLGARF | c.81C>T (p.Ser27=) c.136C>T (p.Gln46Ter) n.279C>T | gnomAD v4 |
| 15 | g.89333674G>C | CA492290644 | POLG,POLGARF | c.81C>G (p.Ser27=) c.136C>G (p.Gln46Glu) n.279C>G | |
| 15 | g.89333674G>T | CA492290645 | POLG,POLGARF | c.81C>A (p.Ser27=) c.136C>A (p.Gln46Lys) n.279C>A | gnomAD v4 |
| 15 | g.89333675G>A | CA393774920 | POLG,POLGARF | c.80C>T (p.Ser27Phe) c.135C>T (p.Leu45=) n.278C>T | |
| 15 | g.89333675G>C | CA393774926 | POLG,POLGARF | c.80C>G (p.Ser27Cys) c.135C>G (p.Leu45=) n.278C>G | |
| 15 | g.89333675G>T | CA393774923 | POLG,POLGARF | c.80C>A (p.Ser27Tyr) c.135C>A (p.Leu45=) n.278C>A | gnomAD v4 |
| 15 | g.89333676A>C | CA393774929 | POLG,POLGARF | c.79T>G (p.Ser27Ala) c.134T>G (p.Leu45Arg) n.277T>G | |
| 15 | g.89333676A>G | CA393774933 | POLG,POLGARF | c.79T>C (p.Ser27Pro) c.134T>C (p.Leu45Pro) n.277T>C | gnomAD v4 |
| 15 | g.89333676A>T | CA393774936 | POLG,POLGARF | c.79T>A (p.Ser27Thr) c.134T>A (p.Leu45His) n.277T>A | |
| 15 | g.89333677G>A | CA492290648 | POLG,POLGARF | c.78C>T (p.Val26=) c.133C>T (p.Leu45Phe) n.276C>T | ClinVar dbSNP gnomAD v2 |
| 15 | g.89333677G>C | CA492290649 | POLG,POLGARF | c.78C>G (p.Val26=) c.133C>G (p.Leu45Val) n.276C>G | |
| 15 | g.89333677G= | CA2194573826 | POLG,POLGARF | c.78C= (p.Val26=) c.133C= (p.Leu45=) n.276C= | |
| 15 | g.89333677G>T | CA492290650 | POLG,POLGARF | c.78C>A (p.Val26=) c.133C>A (p.Leu45Ile) n.276C>A | gnomAD v4 |
| 15 | g.89333678A>C | CA393774941 | POLG,POLGARF | c.77T>G (p.Val26Gly) c.132T>G (p.Gly44=) n.275T>G | |
| 15 | g.89333678A>G | CA393774946 | POLG,POLGARF | c.77T>C (p.Val26Ala) c.132T>C (p.Gly44=) n.275T>C | |
| 15 | g.89333678A>T | CA393774947 | POLG,POLGARF | c.77T>A (p.Val26Asp) c.132T>A (p.Gly44=) n.275T>A | |
| 15 | g.89333679C>A | CA393774950 | POLG,POLGARF | c.76G>T (p.Val26Phe) c.131G>T (p.Gly44Val) n.274G>T | gnomAD v4 |
| 15 | g.89333679C>G | CA393774952 | POLG,POLGARF | c.76G>C (p.Val26Leu) c.131G>C (p.Gly44Ala) n.274G>C | |
| 15 | g.89333679C>T | CA393774953 | POLG,POLGARF | c.76G>A (p.Val26Ile) c.131G>A (p.Gly44Asp) n.274G>A | ClinVar gnomAD v4 |
| 15 | g.89333680C>A | CA393774957 | POLG,POLGARF | c.75G>T (p.Trp25Cys) c.130G>T (p.Gly44Cys) n.273G>T | gnomAD v4 |
| 15 | g.89333680C= | CA2194573831 | POLG,POLGARF | c.75G= (p.Trp25=) c.130G= (p.Gly44=) n.273G= | |
| 15 | g.89333680C>G | CA393774958 | POLG,POLGARF | c.75G>C (p.Trp25Cys) c.130G>C (p.Gly44Arg) n.273G>C | |
| 15 | g.89333680C>T | CA274566757 | POLG,POLGARF | c.75G>A (p.Trp25Ter) c.130G>A (p.Gly44Ser) n.273G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333681C>A | CA393774961 | POLG,POLGARF | c.74G>T (p.Trp25Leu) c.129G>T (p.Leu43=) n.272G>T | ClinVar gnomAD v4 |
| 15 | g.89333681C= | CA2194573837 | POLG,POLGARF | c.74G= (p.Trp25=) c.129G= (p.Leu43=) n.272G= | |
| 15 | g.89333681C>G | CA393774965 | POLG,POLGARF | c.74G>C (p.Trp25Ser) c.129G>C (p.Leu43=) n.272G>C | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333681C>T | CA393774963 | POLG,POLGARF | c.74G>A (p.Trp25Ter) c.129G>A (p.Leu43=) n.272G>A | |
| 15 | g.89333682A= | CA2194573842 | POLG,POLGARF | c.73T= (p.Trp25=) c.128T= (p.Leu43=) n.271T= | |
| 15 | g.89333682A>C | CA393774967 | POLG,POLGARF | c.73T>G (p.Trp25Gly) c.128T>G (p.Leu43Arg) n.271T>G | |
| 15 | g.89333682A>G | CA393774969 | POLG,POLGARF | c.73T>C (p.Trp25Arg) c.128T>C (p.Leu43Pro) n.271T>C | dbSNP gnomAD v4 |
| 15 | g.89333682A>T | CA393774971 | POLG,POLGARF | c.73T>A (p.Trp25Arg) c.128T>A (p.Leu43Gln) n.271T>A | gnomAD v4 |
| 15 | g.89333683G>A | CA492290652 | POLG,POLGARF | c.72C>T (p.Arg24=) c.127C>T (p.Leu43=) n.270C>T | |
| 15 | g.89333683G>C | CA492290653 | POLG,POLGARF | c.72C>G (p.Arg24=) c.127C>G (p.Leu43Val) n.270C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333683G= | CA2194573845 | POLG,POLGARF | c.72C= (p.Arg24=) c.127C= (p.Leu43=) n.270C= | |
| 15 | g.89333683G>T | CA492290654 | POLG,POLGARF | c.72C>A (p.Arg24=) c.127C>A (p.Leu43Met) n.270C>A | |
| 15 | g.89333684C>A | CA7725209 | POLG,POLGARF | c.71G>T (p.Arg24Leu) c.126G>T (p.Ala42=) n.269G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333684C= | CA2194573850 | POLG,POLGARF | c.71G= (p.Arg24=) c.126G= (p.Ala42=) n.269G= | |
| 15 | g.89333684C>G | CA393774975 | POLG,POLGARF | c.71G>C (p.Arg24Pro) c.126G>C (p.Ala42=) n.269G>C | |
| 15 | g.89333684C>T | CA393774976 | POLG,POLGARF | c.71G>A (p.Arg24His) c.126G>A (p.Ala42=) n.269G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333685G>A | CA10602296 | POLG,POLGARF | c.70C>T (p.Arg24Cys) c.125C>T (p.Ala42Val) n.268C>T | ClinVar dbSNP |
| 15 | g.89333685G>C | CA393774979 | POLG,POLGARF | c.70C>G (p.Arg24Gly) c.125C>G (p.Ala42Gly) n.268C>G | |
| 15 | g.89333685G= | CA2194573857 | POLG,POLGARF | c.70C= (p.Arg24=) c.125C= (p.Ala42=) n.268C= | |
| 15 | g.89333685G>T | CA393774982 | POLG,POLGARF | c.70C>A (p.Arg24Ser) c.125C>A (p.Ala42Glu) n.268C>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333686C>A | CA492290656 | POLG,POLGARF | c.69G>T (p.Gly23=) c.124G>T (p.Ala42Ser) n.267G>T | gnomAD v4 |
| 15 | g.89333686C= | CA2194573864 | POLG,POLGARF | c.69G= (p.Gly23=) c.124G= (p.Ala42=) n.267G= | |
| 15 | g.89333686C>G | CA492290657 | POLG,POLGARF | c.69G>C (p.Gly23=) c.124G>C (p.Ala42Pro) n.267G>C | |
| 15 | g.89333686C>T | CA492290658 | POLG,POLGARF | c.69G>A (p.Gly23=) c.124G>A (p.Ala42Thr) n.267G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333687C>A | CA393774985 | POLG,POLGARF | c.68G>T (p.Gly23Val) c.123G>T (p.Gly41=) n.266G>T | |
| 15 | g.89333687C= | CA2194573871 | POLG,POLGARF | c.68G= (p.Gly23=) c.123G= (p.Gly41=) n.266G= | |
| 15 | g.89333687C>G | CA393774988 | POLG,POLGARF | c.68G>C (p.Gly23Ala) c.123G>C (p.Gly41=) n.266G>C | dbSNP gnomAD v2 |
| 15 | g.89333687C>T | CA393774991 | POLG,POLGARF | c.68G>A (p.Gly23Glu) c.123G>A (p.Gly41=) n.266G>A | |
| 15 | g.89333688C>A | CA393774999 | POLG,POLGARF | c.67G>T (p.Gly23Trp) c.122G>T (p.Gly41Val) n.265G>T | gnomAD v4 |
| 15 | g.89333688C= | CA2194573873 | POLG,POLGARF | c.67G= (p.Gly23=) c.122G= (p.Gly41=) n.265G= | |
| 15 | g.89333688C>G | CA393775003 | POLG,POLGARF | c.67G>C (p.Gly23Arg) c.122G>C (p.Gly41Ala) n.265G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333688C>T | CA393774995 | POLG,POLGARF | c.67G>A (p.Gly23Arg) c.122G>A (p.Gly41Glu) n.265G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89333689C>A | CA492290663 | POLG,POLGARF | c.66G>T (p.Pro22=) c.121G>T (p.Gly41Trp) n.264G>T | gnomAD v4 |
| 15 | g.89333689C>G | CA492290664 | POLG,POLGARF | c.66G>C (p.Pro22=) c.121G>C (p.Gly41Arg) n.264G>C | gnomAD v4 |
| 15 | g.89333689C>T | CA492290665 | POLG,POLGARF | c.66G>A (p.Pro22=) c.121G>A (p.Gly41Arg) n.264G>A | |
| 15 | g.89333690G>A | CA393775006 | POLG,POLGARF | c.65C>T (p.Pro22Leu) c.120C>T (p.Ser40=) n.263C>T | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 15 | g.89333690G>C | CA393775008 | POLG,POLGARF | c.65C>G (p.Pro22Arg) c.120C>G (p.Ser40=) n.263C>G | |
| 15 | g.89333690G= | CA2194573881 | POLG,POLGARF | c.65C= (p.Pro22=) c.120C= (p.Ser40=) n.263C= | |
| 15 | g.89333690G>T | CA393775011 | POLG,POLGARF | c.65C>A (p.Pro22Gln) c.120C>A (p.Ser40=) n.263C>A | gnomAD v4 |
| 15 | g.89333690_89333691insAGATCGGAA | CA2630256985 | POLG,POLGARF | c.64_65insTTCCGATCT (p.Pro22delinsLeuProIleSer) c.119_120insTTCCGATCT (p.Ser40_Gly41insSerAspLeu) n.262_263insTTCCGATCT | gnomAD v4 |
| 15 | g.89333691G>A | CA274566771 | POLG,POLGARF | c.64C>T (p.Pro22Ser) c.119C>T (p.Ser40Phe) n.262C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333691G>C | CA393775015 | POLG,POLGARF | c.64C>G (p.Pro22Ala) c.119C>G (p.Ser40Cys) n.262C>G | |
| 15 | g.89333691G= | CA2194573889 | POLG,POLGARF | c.64C= (p.Pro22=) c.119C= (p.Ser40=) n.262C= | |
| 15 | g.89333691G>T | CA393775018 | POLG,POLGARF | c.64C>A (p.Pro22Thr) c.119C>A (p.Ser40Tyr) n.262C>A | ClinVar gnomAD v4 |
| 15 | g.89333692A= | CA2194573893 | POLG,POLGARF | c.63T= (p.Ala21=) c.118T= (p.Ser40=) n.261T= | |
| 15 | g.89333692A>C | CA492290668 | POLG,POLGARF | c.63T>G (p.Ala21=) c.118T>G (p.Ser40Ala) n.261T>G | |
| 15 | g.89333692A>G | CA7725210 | POLG,POLGARF | c.63T>C (p.Ala21=) c.118T>C (p.Ser40Pro) n.261T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333692A>T | CA492290670 | POLG,POLGARF | c.63T>A (p.Ala21=) c.118T>A (p.Ser40Thr) n.261T>A | ClinVar dbSNP |
| 15 | g.89333693G>A | CA316734 | POLG,POLGARF | c.62C>T (p.Ala21Val) c.117C>T (p.Ser39=) n.260C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333693G>C | CA393775025 | POLG,POLGARF | c.62C>G (p.Ala21Gly) c.117C>G (p.Ser39Arg) n.260C>G | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333693G= | CA2194573896 | POLG,POLGARF | c.62C= (p.Ala21=) c.117C= (p.Ser39=) n.260C= | |
| 15 | g.89333693G>T | CA393775027 | POLG,POLGARF | c.62C>A (p.Ala21Asp) c.117C>A (p.Ser39Arg) n.260C>A | |
| 15 | g.89333694C>A | CA393775030 | POLG,POLGARF | c.61G>T (p.Ala21Ser) c.116G>T (p.Ser39Ile) n.259G>T | ClinVar gnomAD v4 |
| 15 | g.89333694C= | CA2194573901 | POLG,POLGARF | c.61G= (p.Ala21=) c.116G= (p.Ser39=) n.259G= | |
| 15 | g.89333694C>G | CA393775033 | POLG,POLGARF | c.61G>C (p.Ala21Pro) c.116G>C (p.Ser39Thr) n.259G>C | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333694C>T | CA393775035 | POLG,POLGARF | c.61G>A (p.Ala21Thr) c.116G>A (p.Ser39Asn) n.259G>A | dbSNP gnomAD v2 |
| 15 | g.89333695T>A | CA492290671 | POLG,POLGARF | c.60A>T (p.Pro20=) c.115A>T (p.Ser39Cys) n.258A>T | |
| 15 | g.89333695T>C | CA274566790 | POLG,POLGARF | c.60A>G (p.Pro20=) c.115A>G (p.Ser39Gly) n.258A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333695T>G | CA10602293 | POLG,POLGARF | c.60A>C (p.Pro20=) c.115A>C (p.Ser39Arg) n.258A>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333695T= | CA2194573908 | POLG,POLGARF | c.60A= (p.Pro20=) c.115A= (p.Ser39=) n.258A= | |
| 15 | g.89333698_89333720del | CA1139771266 | POLG,POLGARF | c.38_60del (p.Thr13SerfsTer?) c.93_115del (p.His31GlnfsTer?) n.236_258del | |
| 15 | g.89333696G>A | CA393775045 | POLG,POLGARF | c.59C>T (p.Pro20Leu) c.114C>T (p.Ser38=) n.257C>T | gnomAD v4 |
| 15 | g.89333696G>C | CA393775043 | POLG,POLGARF | c.59C>G (p.Pro20Arg) c.114C>G (p.Ser38=) n.257C>G | |
| 15 | g.89333696G>T | CA393775039 | POLG,POLGARF | c.59C>A (p.Pro20Gln) c.114C>A (p.Ser38=) n.257C>A | gnomAD v4 |
| 15 | g.89333697G>A | CA393775048 | POLG,POLGARF | c.58C>T (p.Pro20Ser) c.113C>T (p.Ser38Phe) n.256C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333697G>C | CA393775052 | POLG,POLGARF | c.58C>G (p.Pro20Ala) c.113C>G (p.Ser38Cys) n.256C>G | |
| 15 | g.89333697G= | CA2194573916 | POLG,POLGARF | c.58C= (p.Pro20=) c.113C= (p.Ser38=) n.256C= | |
| 15 | g.89333697G>T | CA393775050 | POLG,POLGARF | c.58C>A (p.Pro20Thr) c.113C>A (p.Ser38Tyr) n.256C>A | |
| 15 | g.89333698A>C | CA492290672 | POLG,POLGARF | c.57T>G (p.Val19=) c.112T>G (p.Ser38Ala) n.255T>G | ClinVar |
| 15 | g.89333698A>G | CA492290673 | POLG,POLGARF | c.57T>C (p.Val19=) c.112T>C (p.Ser38Pro) n.255T>C | gnomAD v4 |
| 15 | g.89333698A>T | CA492290674 | POLG,POLGARF | c.57T>A (p.Val19=) c.112T>A (p.Ser38Thr) n.255T>A | |
| 15 | g.89333699A= | CA2194573918 | POLG,POLGARF | c.56T= (p.Val19=) c.111T= (p.Gly37=) n.254T= | |
| 15 | g.89333699A>C | CA393775055 | POLG,POLGARF | c.56T>G (p.Val19Gly) c.111T>G (p.Gly37=) n.254T>G | |
| 15 | g.89333699A>G | CA7725211 | POLG,POLGARF | c.56T>C (p.Val19Ala) c.111T>C (p.Gly37=) n.254T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333699A>T | CA393775073 | POLG,POLGARF | c.56T>A (p.Val19Asp) c.111T>A (p.Gly37=) n.254T>A | |
| 15 | g.89333700C>A | CA393775081 | POLG,POLGARF | c.55G>T (p.Val19Phe) c.110G>T (p.Gly37Val) n.253G>T | gnomAD v4 |
| 15 | g.89333700C>G | CA393775092 | POLG,POLGARF | c.55G>C (p.Val19Leu) c.110G>C (p.Gly37Ala) n.253G>C | |
| 15 | g.89333700C>T | CA393775086 | POLG,POLGARF | c.55G>A (p.Val19Ile) c.110G>A (p.Gly37Asp) n.253G>A | gnomAD v4 |
| 15 | g.89333701C>A | CA492290677 | POLG,POLGARF | c.54G>T (p.Pro18=) c.109G>T (p.Gly37Cys) n.252G>T | gnomAD v4 |
| 15 | g.89333701C= | CA2194573925 | POLG,POLGARF | c.54G= (p.Pro18=) c.109G= (p.Gly37=) n.252G= | |
| 15 | g.89333701C>G | CA492290676 | POLG,POLGARF | c.54G>C (p.Pro18=) c.109G>C (p.Gly37Arg) n.252G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333701C>T | CA492290675 | POLG,POLGARF | c.54G>A (p.Pro18=) c.109G>A (p.Gly37Ser) n.252G>A | gnomAD v4 |
| 15 | g.89333702G>A | CA393775096 | POLG,POLGARF | c.53C>T (p.Pro18Leu) c.108C>T (p.Ala36=) n.251C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333702G>C | CA393775102 | POLG,POLGARF | c.53C>G (p.Pro18Arg) c.108C>G (p.Ala36=) n.251C>G | |
| 15 | g.89333702G= | CA2194573929 | POLG,POLGARF | c.53C= (p.Pro18=) c.108C= (p.Ala36=) n.251C= | |
| 15 | g.89333702G>T | CA393775098 | POLG,POLGARF | c.53C>A (p.Pro18Gln) c.108C>A (p.Ala36=) n.251C>A | ClinVar dbSNP |
| 15 | g.89333703G>A | CA341889 | POLG,POLGARF | c.52C>T (p.Pro18Ser) c.107C>T (p.Ala36Val) n.250C>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333703G>C | CA393775125 | POLG,POLGARF | c.52C>G (p.Pro18Ala) c.107C>G (p.Ala36Gly) n.250C>G | |
| 15 | g.89333703G= | CA2194573932 | POLG,POLGARF | c.52C= (p.Pro18=) c.107C= (p.Ala36=) n.250C= | |
| 15 | g.89333703G>T | CA393775121 | POLG,POLGARF | c.52C>A (p.Pro18Thr) c.107C>A (p.Ala36Asp) n.250C>A | gnomAD v4 |
| 15 | g.89333704C>A | CA492290678 | POLG,POLGARF | c.51G>T (p.Gly17=) c.106G>T (p.Ala36Ser) n.249G>T | gnomAD v4 |
| 15 | g.89333704C>G | CA492290680 | POLG,POLGARF | c.51G>C (p.Gly17=) c.106G>C (p.Ala36Pro) n.249G>C | |
| 15 | g.89333704C>T | CA492290682 | POLG,POLGARF | c.51G>A (p.Gly17=) c.106G>A (p.Ala36Thr) n.249G>A | ClinVar |
| 15 | g.89333705C>A | CA393775145 | POLG,POLGARF | c.50G>T (p.Gly17Val) c.105G>T (p.Arg35Ser) n.248G>T | gnomAD v4 |
| 15 | g.89333705C>G | CA393775147 | POLG,POLGARF | c.50G>C (p.Gly17Ala) c.105G>C (p.Arg35Ser) n.248G>C | |
| 15 | g.89333705C>T | CA393775150 | POLG,POLGARF | c.50G>A (p.Gly17Glu) c.105G>A (p.Arg35=) n.248G>A | |
| 15 | g.89333706C>A | CA393775156 | POLG,POLGARF | c.49G>T (p.Gly17Trp) c.104G>T (p.Arg35Met) n.247G>T | gnomAD v4 |
| 15 | g.89333706C>G | CA393775159 | POLG,POLGARF | c.49G>C (p.Gly17Arg) c.104G>C (p.Arg35Thr) n.247G>C | gnomAD v4 |
| 15 | g.89333706C>T | CA393775162 | POLG,POLGARF | c.49G>A (p.Gly17Arg) c.104G>A (p.Arg35Lys) n.247G>A | |
| 15 | g.89333707T>A | CA492290686 | POLG,POLGARF | c.48A>T (p.Pro16=) c.103A>T (p.Arg35Trp) n.246A>T | |
| 15 | g.89333707T>C | CA492290687 | POLG,POLGARF | c.48A>G (p.Pro16=) c.103A>G (p.Arg35Gly) n.246A>G | |
| 15 | g.89333707T>G | CA274566805 | POLG,POLGARF | c.48A>C (p.Pro16=) c.103A>C (p.Arg35=) n.246A>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333707T= | CA2194573934 | POLG,POLGARF | c.48A= (p.Pro16=) c.103A= (p.Arg35=) n.246A= | |
| 15 | g.89333708G>A | CA393775168 | POLG,POLGARF | c.47C>T (p.Pro16Leu) c.102C>T (p.Ala34=) n.245C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333708G>C | CA393775172 | POLG,POLGARF | c.47C>G (p.Pro16Arg) c.102C>G (p.Ala34=) n.245C>G | |
| 15 | g.89333708G= | CA2194573937 | POLG,POLGARF | c.47C= (p.Pro16=) c.102C= (p.Ala34=) n.245C= | |
| 15 | g.89333708G>T | CA393775178 | POLG,POLGARF | c.47C>A (p.Pro16Gln) c.102C>A (p.Ala34=) n.245C>A | gnomAD v4 |
| 15 | g.89333709G>A | CA393775183 | POLG,POLGARF | c.46C>T (p.Pro16Ser) c.101C>T (p.Ala34Val) n.244C>T | ClinVar gnomAD v4 |
| 15 | g.89333709G>C | CA393775186 | POLG,POLGARF | c.46C>G (p.Pro16Ala) c.101C>G (p.Ala34Gly) n.244C>G | |
| 15 | g.89333709G= | CA2194573940 | POLG,POLGARF | c.46C= (p.Pro16=) c.101C= (p.Ala34=) n.244C= | |
| 15 | g.89333709G>T | CA393775187 | POLG,POLGARF | c.46C>A (p.Pro16Thr) c.101C>A (p.Ala34Asp) n.244C>A | dbSNP gnomAD v4 |
| 15 | g.89333710C>A | CA492290690 | POLG,POLGARF | c.45G>T (p.Gly15=) c.100G>T (p.Ala34Ser) n.243G>T | gnomAD v4 |
| 15 | g.89333710C>G | CA492290691 | POLG,POLGARF | c.45G>C (p.Gly15=) c.100G>C (p.Ala34Pro) n.243G>C | |
| 15 | g.89333710C>T | CA492290693 | POLG,POLGARF | c.45G>A (p.Gly15=) c.100G>A (p.Ala34Thr) n.243G>A | gnomAD v4 |
| 15 | g.89333711C>A | CA393775188 | POLG,POLGARF | c.44G>T (p.Gly15Val) c.99G>T (p.Arg33=) n.242G>T | dbSNP |
| 15 | g.89333711C= | CA2194573942 | POLG,POLGARF | c.44G= (p.Gly15=) c.99G= (p.Arg33=) n.242G= | |
| 15 | g.89333711C>G | CA393775191 | POLG,POLGARF | c.44G>C (p.Gly15Ala) c.99G>C (p.Arg33=) n.242G>C | |
| 15 | g.89333711C>T | CA393775189 | POLG,POLGARF | c.44G>A (p.Gly15Glu) c.99G>A (p.Arg33=) n.242G>A | |
| 15 | g.89333712C>A | CA393775194 | POLG,POLGARF | c.43G>T (p.Gly15Trp) c.98G>T (p.Arg33Leu) n.241G>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333712C= | CA2194573943 | POLG,POLGARF | c.43G= (p.Gly15=) c.98G= (p.Arg33=) n.241G= | |
| 15 | g.89333712C>G | CA393775197 | POLG,POLGARF | c.43G>C (p.Gly15Arg) c.98G>C (p.Arg33Pro) n.241G>C | dbSNP |
| 15 | g.89333712C>T | CA393775206 | POLG,POLGARF | c.43G>A (p.Gly15Arg) c.98G>A (p.Arg33Gln) n.241G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333713G>A | CA7725212 | POLG,POLGARF | c.42C>T (p.Val14=) c.97C>T (p.Arg33Trp) n.240C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333713G>C | CA492290698 | POLG,POLGARF | c.42C>G (p.Val14=) c.97C>G (p.Arg33Gly) n.240C>G | |
| 15 | g.89333713G= | CA2194573944 | POLG,POLGARF | c.42C= (p.Val14=) c.97C= (p.Arg33=) n.240C= | |
| 15 | g.89333713G>T | CA492290700 | POLG,POLGARF | c.42C>A (p.Val14=) c.97C>A (p.Arg33=) n.240C>A | gnomAD v4 |
| 15 | g.89333714A>C | CA393775207 | POLG,POLGARF | c.41T>G (p.Val14Gly) c.96T>G (p.Arg32=) n.239T>G | |
| 15 | g.89333714A>G | CA393775208 | POLG,POLGARF | c.41T>C (p.Val14Ala) c.96T>C (p.Arg32=) n.239T>C | |
| 15 | g.89333714A>T | CA393775210 | POLG,POLGARF | c.41T>A (p.Val14Asp) c.96T>A (p.Arg32=) n.239T>A | |
| 15 | g.89333715C>A | CA393775213 | POLG,POLGARF | c.40G>T (p.Val14Phe) c.95G>T (p.Arg32Leu) n.238G>T | |
| 15 | g.89333715C= | CA2194573945 | POLG,POLGARF | c.40G= (p.Val14=) c.95G= (p.Arg32=) n.238G= | |
| 15 | g.89333715C>G | CA393775217 | POLG,POLGARF | c.40G>C (p.Val14Leu) c.95G>C (p.Arg32Pro) n.238G>C | |
| 15 | g.89333715C>T | CA393775221 | POLG,POLGARF | c.40G>A (p.Val14Ile) c.95G>A (p.Arg32His) n.238G>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333716G>A | CA274566822 | POLG,POLGARF | c.39C>T (p.Thr13=) c.94C>T (p.Arg32Cys) n.237C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333716G>C | CA492290704 | POLG,POLGARF | c.39C>G (p.Thr13=) c.94C>G (p.Arg32Gly) n.237C>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333716G= | CA2194573949 | POLG,POLGARF | c.39C= (p.Thr13=) c.94C= (p.Arg32=) n.237C= | |
| 15 | g.89333716G>T | CA492290705 | POLG,POLGARF | c.39C>A (p.Thr13=) c.94C>A (p.Arg32Ser) n.237C>A | dbSNP gnomAD v4 |
| 15 | g.89333717G>A | CA393775235 | POLG,POLGARF | c.38C>T (p.Thr13Ile) c.93C>T (p.His31=) n.236C>T | |
| 15 | g.89333717G>C | CA10602286 | POLG,POLGARF | c.38C>G (p.Thr13Ser) c.93C>G (p.His31Gln) n.236C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333717G= | CA2194573955 | POLG,POLGARF | c.38C= (p.Thr13=) c.93C= (p.His31=) n.236C= | |
| 15 | g.89333717G>T | CA393775231 | POLG,POLGARF | c.38C>A (p.Thr13Asn) c.93C>A (p.His31Gln) n.236C>A | gnomAD v4 |
| 15 | g.89333718T>A | CA393775240 | POLG,POLGARF | c.37A>T (p.Thr13Ser) c.92A>T (p.His31Leu) n.235A>T | |
| 15 | g.89333718T>C | CA274566823 | POLG,POLGARF | c.37A>G (p.Thr13Ala) c.92A>G (p.His31Arg) n.235A>G | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333718T>G | CA393775245 | POLG,POLGARF | c.37A>C (p.Thr13Pro) c.92A>C (p.His31Pro) n.235A>C | |
| 15 | g.89333718T= | CA2194573960 | POLG,POLGARF | c.37A= (p.Thr13=) c.92A= (p.His31=) n.235A= | |
| 15 | g.89333719G>A | CA492290712 | POLG,POLGARF | c.36C>T (p.Ala12=) c.91C>T (p.His31Tyr) n.234C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333719G>C | CA492290710 | POLG,POLGARF | c.36C>G (p.Ala12=) c.91C>G (p.His31Asp) n.234C>G | |
| 15 | g.89333719G= | CA2194573966 | POLG,POLGARF | c.36C= (p.Ala12=) c.91C= (p.His31=) n.234C= | |
| 15 | g.89333719G>T | CA492290709 | POLG,POLGARF | c.36C>A (p.Ala12=) c.91C>A (p.His31Asn) n.234C>A | |
| 15 | g.89333720G>A | CA393775261 | POLG,POLGARF | c.35C>T (p.Ala12Val) c.90C>T (p.Arg30=) n.233C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333720G>C | CA393775264 | POLG,POLGARF | c.35C>G (p.Ala12Gly) c.90C>G (p.Arg30=) n.233C>G | dbSNP |
| 15 | g.89333720G= | CA2194573973 | POLG,POLGARF | c.35C= (p.Ala12=) c.90C= (p.Arg30=) n.233C= | |
| 15 | g.89333720G>T | CA393775268 | POLG,POLGARF | c.35C>A (p.Ala12Asp) c.90C>A (p.Arg30=) n.233C>A | gnomAD v4 |
| 15 | g.89333721C>A | CA393775274 | POLG,POLGARF | c.34G>T (p.Ala12Ser) c.89G>T (p.Arg30Leu) n.232G>T | gnomAD v4 |
| 15 | g.89333721C= | CA2194573974 | POLG,POLGARF | c.34G= (p.Ala12=) c.89G= (p.Arg30=) n.232G= | |
| 15 | g.89333721C>G | CA393775276 | POLG,POLGARF | c.34G>C (p.Ala12Pro) c.89G>C (p.Arg30Pro) n.232G>C | dbSNP |
| 15 | g.89333721C>T | CA393775280 | POLG,POLGARF | c.34G>A (p.Ala12Thr) c.89G>A (p.Arg30His) n.232G>A | gnomAD v4 COSMIC |
| 15 | g.89333722G>A | CA492290718 | POLG,POLGARF | c.33C>T (p.Gly11=) c.88C>T (p.Arg30Cys) n.231C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333722G>C | CA492290719 | POLG,POLGARF | c.33C>G (p.Gly11=) c.88C>G (p.Arg30Gly) n.231C>G | gnomAD v4 |
| 15 | g.89333722G= | CA2194573977 | POLG,POLGARF | c.33C= (p.Gly11=) c.88C= (p.Arg30=) n.231C= | |
| 15 | g.89333722G>T | CA492290721 | POLG,POLGARF | c.33C>A (p.Gly11=) c.88C>A (p.Arg30Ser) n.231C>A | gnomAD v4 |
| 15 | g.89333723C>A | CA393775294 | POLG,POLGARF | c.32G>T (p.Gly11Val) c.87G>T (p.Arg29=) n.230G>T | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333723C= | CA2194573981 | POLG,POLGARF | c.32G= (p.Gly11=) c.87G= (p.Arg29=) n.230G= | |
| 15 | g.89333723C>G | CA393775290 | POLG,POLGARF | c.32G>C (p.Gly11Ala) c.87G>C (p.Arg29=) n.230G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333723C>T | CA302812 | POLG,POLGARF | c.32G>A (p.Gly11Asp) c.87G>A (p.Arg29=) n.230G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89333724C>A | CA393775299 | POLG,POLGARF | c.31G>T (p.Gly11Cys) c.86G>T (p.Arg29Leu) n.229G>T | gnomAD v4 |
| 15 | g.89333724C= | CA2194573987 | POLG,POLGARF | c.31G= (p.Gly11=) c.86G= (p.Arg29=) n.229G= | |
| 15 | g.89333724C>G | CA393775302 | POLG,POLGARF | c.31G>C (p.Gly11Arg) c.86G>C (p.Arg29Pro) n.229G>C | |
| 15 | g.89333724C>T | CA7725213 | POLG,POLGARF | c.31G>A (p.Gly11Ser) c.86G>A (p.Arg29Gln) n.229G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333725G>A | CA16614940 | POLG,POLGARF | c.30C>T (p.Ala10=) c.85C>T (p.Arg29Trp) n.228C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333725G>C | CA492290728 | POLG,POLGARF | c.30C>G (p.Ala10=) c.85C>G (p.Arg29Gly) n.228C>G | gnomAD v4 |
| 15 | g.89333725G= | CA2194573993 | POLG,POLGARF | c.30C= (p.Ala10=) c.85C= (p.Arg29=) n.228C= | |
| 15 | g.89333725G>T | CA492290726 | POLG,POLGARF | c.30C>A (p.Ala10=) c.85C>A (p.Arg29=) n.228C>A | gnomAD v4 |
| 15 | g.89333726G>A | CA7725214 | POLG,POLGARF | c.29C>T (p.Ala10Val) c.84C>T (p.Gly28=) n.227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333726G>C | CA393775323 | POLG,POLGARF | c.29C>G (p.Ala10Gly) c.84C>G (p.Gly28=) n.227C>G | |
| 15 | g.89333726G= | CA2194573996 | POLG,POLGARF | c.29C= (p.Ala10=) c.84C= (p.Gly28=) n.227C= | |
| 15 | g.89333726G>T | CA393775327 | POLG,POLGARF | c.29C>A (p.Ala10Asp) c.84C>A (p.Gly28=) n.227C>A | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333727C>A | CA393775331 | POLG,POLGARF | c.28G>T (p.Ala10Ser) c.83G>T (p.Gly28Val) n.226G>T | gnomAD v4 |
| 15 | g.89333727C>G | CA393775338 | POLG,POLGARF | c.28G>C (p.Ala10Pro) c.83G>C (p.Gly28Ala) n.226G>C | gnomAD v4 |
| 15 | g.89333727C>T | CA393775340 | POLG,POLGARF | c.28G>A (p.Ala10Thr) c.83G>A (p.Gly28Asp) n.226G>A | gnomAD v4 |
| 15 | g.89333728C>A | CA492290731 | POLG,POLGARF | c.27G>T (p.Val9=) c.82G>T (p.Gly28Cys) n.225G>T | |
| 15 | g.89333728C= | CA2194574000 | POLG,POLGARF | c.27G= (p.Val9=) c.82G= (p.Gly28=) n.225G= | |
| 15 | g.89333728C>G | CA492290732 | POLG,POLGARF | c.27G>C (p.Val9=) c.82G>C (p.Gly28Arg) n.225G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333728C>T | CA492290733 | POLG,POLGARF | c.27G>A (p.Val9=) c.82G>A (p.Gly28Ser) n.225G>A | |
| 15 | g.89333729A>C | CA393775344 | POLG,POLGARF | c.26T>G (p.Val9Gly) c.81T>G (p.Gly27=) n.224T>G | |
| 15 | g.89333729A>G | CA393775346 | POLG,POLGARF | c.26T>C (p.Val9Ala) c.81T>C (p.Gly27=) n.224T>C | gnomAD v4 |
| 15 | g.89333729A>T | CA393775347 | POLG,POLGARF | c.26T>A (p.Val9Glu) c.81T>A (p.Gly27=) n.224T>A | |
| 15 | g.89333730C>A | CA393775355 | POLG,POLGARF | c.25G>T (p.Val9Leu) c.80G>T (p.Gly27Val) n.223G>T | |
| 15 | g.89333730C>G | CA393775358 | POLG,POLGARF | c.25G>C (p.Val9Leu) c.80G>C (p.Gly27Ala) n.223G>C | |
| 15 | g.89333730C>T | CA393775353 | POLG,POLGARF | c.25G>A (p.Val9Met) c.80G>A (p.Gly27Asp) n.223G>A | ClinVar gnomAD v4 |
| 15 | g.89333731C>A | CA393775366 | POLG,POLGARF | c.24G>T (p.Lys8Asn) c.79G>T (p.Gly27Cys) n.222G>T | |
| 15 | g.89333731C= | CA2194574003 | POLG,POLGARF | c.24G= (p.Lys8=) c.79G= (p.Gly27=) n.222G= | |
| 15 | g.89333731C>G | CA10602224 | POLG,POLGARF | c.24G>C (p.Lys8Asn) c.79G>C (p.Gly27Arg) n.222G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333731C>T | CA492290740 | POLG,POLGARF | c.24G>A (p.Lys8=) c.79G>A (p.Gly27Ser) n.222G>A | |
| 15 | g.89333732T>A | CA393775370 | POLG,POLGARF | c.23A>T (p.Lys8Met) c.78A>T (p.Glu26Asp) n.221A>T | |
| 15 | g.89333732T>C | CA393775374 | POLG,POLGARF | c.23A>G (p.Lys8Arg) c.78A>G (p.Glu26=) n.221A>G | dbSNP |
| 15 | g.89333732T>G | CA393775375 | POLG,POLGARF | c.23A>C (p.Lys8Thr) c.78A>C (p.Glu26Asp) n.221A>C | |
| 15 | g.89333732T= | CA2194574011 | POLG,POLGARF | c.23A= (p.Lys8=) c.78A= (p.Glu26=) n.221A= | |
| 15 | g.89333733T>A | CA393775376 | POLG,POLGARF | c.22A>T (p.Lys8Ter) c.77A>T (p.Glu26Val) n.220A>T | |
| 15 | g.89333733T>C | CA393775377 | POLG,POLGARF | c.22A>G (p.Lys8Glu) c.77A>G (p.Glu26Gly) n.220A>G | |
| 15 | g.89333733T>G | CA393775379 | POLG,POLGARF | c.22A>C (p.Lys8Gln) c.77A>C (p.Glu26Ala) n.220A>C | |
| 15 | g.89333734C>A | CA393775380 | POLG,POLGARF | c.21G>T (p.Arg7Ser) c.76G>T (p.Glu26Ter) n.219G>T | gnomAD v4 |
| 15 | g.89333734C= | CA2194574017 | POLG,POLGARF | c.21G= (p.Arg7=) c.76G= (p.Glu26=) n.219G= | |
| 15 | g.89333734C>G | CA393775383 | POLG,POLGARF | c.21G>C (p.Arg7Ser) c.76G>C (p.Glu26Gln) n.219G>C | dbSNP gnomAD v4 |
| 15 | g.89333734C>T | CA16607076 | POLG,POLGARF | c.21G>A (p.Arg7=) c.76G>A (p.Glu26Lys) n.219G>A | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333735C>A | CA393775387 | POLG,POLGARF | c.20G>T (p.Arg7Met) c.75G>T (p.Glu25Asp) n.218G>T | |
| 15 | g.89333735C>G | CA393775391 | POLG,POLGARF | c.20G>C (p.Arg7Thr) c.75G>C (p.Glu25Asp) n.218G>C | |
| 15 | g.89333735C>T | CA393775395 | POLG,POLGARF | c.20G>A (p.Arg7Lys) c.75G>A (p.Glu25=) n.218G>A | |
| 15 | g.89333736T>A | CA393775402 | POLG,POLGARF | c.19A>T (p.Arg7Trp) c.74A>T (p.Glu25Val) n.217A>T | ClinVar gnomAD v4 |
| 15 | g.89333736T>C | CA393775399 | POLG,POLGARF | c.19A>G (p.Arg7Gly) c.74A>G (p.Glu25Gly) n.217A>G | dbSNP gnomAD v4 |
| 15 | g.89333736T>G | CA492290751 | POLG,POLGARF | c.19A>C (p.Arg7=) c.74A>C (p.Glu25Ala) n.217A>C | |
| 15 | g.89333736T= | CA2194574022 | POLG,POLGARF | c.19A= (p.Arg7=) c.74A= (p.Glu25=) n.217A= | |
| 15 | g.89333737C>A | CA393775408 | POLG,POLGARF | c.18G>T (p.Trp6Cys) c.73G>T (p.Glu25Ter) n.216G>T | gnomAD v4 |
| 15 | g.89333737C>G | CA393775413 | POLG,POLGARF | c.18G>C (p.Trp6Cys) c.73G>C (p.Glu25Gln) n.216G>C | gnomAD v4 |
| 15 | g.89333737C>T | CA393775418 | POLG,POLGARF | c.18G>A (p.Trp6Ter) c.73G>A (p.Glu25Lys) n.216G>A | ClinVar gnomAD v4 |
| 15 | g.89333738C>A | CA393775422 | POLG,POLGARF | c.17G>T (p.Trp6Leu) c.72G>T (p.Leu24=) n.215G>T | gnomAD v4 |
| 15 | g.89333738C= | CA2194574027 | POLG,POLGARF | c.17G= (p.Trp6=) c.72G= (p.Leu24=) n.215G= | |
| 15 | g.89333738C>G | CA10602200 | POLG,POLGARF | c.17G>C (p.Trp6Ser) c.72G>C (p.Leu24=) n.215G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333738C>T | CA393775426 | POLG,POLGARF | c.17G>A (p.Trp6Ter) c.72G>A (p.Leu24=) n.215G>A | |
| 15 | g.89333739A>C | CA393775430 | POLG,POLGARF | c.16T>G (p.Trp6Gly) c.71T>G (p.Leu24Arg) n.214T>G | |
| 15 | g.89333739A>G | CA393775433 | POLG,POLGARF | c.16T>C (p.Trp6Arg) c.71T>C (p.Leu24Pro) n.214T>C | |
| 15 | g.89333739A>T | CA393775435 | POLG,POLGARF | c.16T>A (p.Trp6Arg) c.71T>A (p.Leu24Gln) n.214T>A | |
| 15 | g.89333740G>A | CA274566836 | POLG,POLGARF | c.15C>T (p.Leu5=) c.70C>T (p.Leu24=) n.213C>T | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333740G>C | CA492290761 | POLG,POLGARF | c.15C>G (p.Leu5=) c.70C>G (p.Leu24Val) n.213C>G | ClinVar dbSNP |
| 15 | g.89333740G= | CA2194574032 | POLG,POLGARF | c.15C= (p.Leu5=) c.70C= (p.Leu24=) n.213C= | |
| 15 | g.89333740G>T | CA492290762 | POLG,POLGARF | c.15C>A (p.Leu5=) c.70C>A (p.Leu24Met) n.213C>A | |
| 15 | g.89333741A>C | CA393775446 | POLG,POLGARF | c.14T>G (p.Leu5Arg) c.69T>G (p.Ala23=) n.212T>G | |
| 15 | g.89333741A>G | CA393775447 | POLG,POLGARF | c.14T>C (p.Leu5Pro) c.69T>C (p.Ala23=) n.212T>C | gnomAD v4 |
| 15 | g.89333741A>T | CA393775451 | POLG,POLGARF | c.14T>A (p.Leu5His) c.69T>A (p.Ala23=) n.212T>A | |
| 15 | g.89333742G>A | CA7725215 | POLG,POLGARF | c.13C>T (p.Leu5Phe) c.68C>T (p.Ala23Val) n.211C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333742G>C | CA393775473 | POLG,POLGARF | c.13C>G (p.Leu5Val) c.68C>G (p.Ala23Gly) n.211C>G | |
| 15 | g.89333742G= | CA2194574033 | POLG,POLGARF | c.13C= (p.Leu5=) c.68C= (p.Ala23=) n.211C= | |
| 15 | g.89333742G>T | CA393775457 | POLG,POLGARF | c.13C>A (p.Leu5Ile) c.68C>A (p.Ala23Asp) n.211C>A | gnomAD v4 |
| 15 | g.89333743C>A | CA492290764 | POLG,POLGARF | c.12G>T (p.Leu4=) c.67G>T (p.Ala23Ser) n.210G>T | |
| 15 | g.89333743C>G | CA492290765 | POLG,POLGARF | c.12G>C (p.Leu4=) c.67G>C (p.Ala23Pro) n.210G>C | |
| 15 | g.89333743C>T | CA492290766 | POLG,POLGARF | c.12G>A (p.Leu4=) c.67G>A (p.Ala23Thr) n.210G>A | |
| 15 | g.89333744A>C | CA393775479 | POLG,POLGARF | c.11T>G (p.Leu4Arg) c.66T>G (p.Pro22=) n.209T>G | |
| 15 | g.89333744A>G | CA393775482 | POLG,POLGARF | c.11T>C (p.Leu4Pro) c.66T>C (p.Pro22=) n.209T>C | gnomAD v4 |
| 15 | g.89333744A>T | CA393775485 | POLG,POLGARF | c.11T>A (p.Leu4Gln) c.66T>A (p.Pro22=) n.209T>A | COSMIC |
| 15 | g.89333745G>A | CA492290778 | POLG,POLGARF | c.10C>T (p.Leu4=) c.65C>T (p.Pro22Leu) n.208C>T | |
| 15 | g.89333745G>C | CA393775490 | POLG,POLGARF | c.10C>G (p.Leu4Val) c.65C>G (p.Pro22Arg) n.208C>G | |
| 15 | g.89333745G>T | CA393775499 | POLG,POLGARF | c.10C>A (p.Leu4Met) c.65C>A (p.Pro22His) n.208C>A | |
| 15 | g.89333746del | CA2630257004 | POLG,POLGARF | c.10del (p.Leu4CysfsTer?) c.65del (p.Pro22LeufsTer?) n.208del | gnomAD v4 |
| 15 | g.89333747_89333781dup | CA2580090404 | POLG,POLGARF | c.-25_10dup (p.Leu4ProfsTer10) c.31_65dup (p.Ala23SerfsTer?) n.174_208dup | ClinVar |
| 15 | g.89333746G>A | CA492290782 | POLG,POLGARF | c.9C>T (p.Arg3=) c.64C>T (p.Pro22Ser) n.207C>T | ClinVar dbSNP |
| 15 | g.89333746G>C | CA492290784 | POLG,POLGARF | c.9C>G (p.Arg3=) c.64C>G (p.Pro22Ala) n.207C>G | gnomAD v4 |
| 15 | g.89333746G= | CA2194574036 | POLG,POLGARF | c.9C= (p.Arg3=) c.64C= (p.Pro22=) n.207C= | |
| 15 | g.89333746G>T | CA492290783 | POLG,POLGARF | c.9C>A (p.Arg3=) c.64C>A (p.Pro22Thr) n.207C>A | |
| 15 | g.89333747del | CA2630257005 | POLG,POLGARF | c.8del (p.Arg3ProfsTer?) c.63del (p.Pro22LeufsTer?) n.206del | gnomAD v4 |
| 15 | g.89333747C>A | CA393775509 | POLG,POLGARF | c.8G>T (p.Arg3Leu) c.63G>T (p.Pro21=) n.206G>T | |
| 15 | g.89333747C= | CA2194574038 | POLG,POLGARF | c.8G= (p.Arg3=) c.63G= (p.Pro21=) n.206G= | |
| 15 | g.89333747C>G | CA256885 | POLG,POLGARF | c.8G>C (p.Arg3Pro) c.63G>C (p.Pro21=) n.206G>C | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333747C>T | CA393775516 | POLG,POLGARF | c.8G>A (p.Arg3His) c.63G>A (p.Pro21=) n.206G>A | gnomAD v4 |