| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.89333596_89333625del | CA2630256950 | POLG,POLGARF | c.137_166del (p.Gln46_Gln55del) c.192_221del (p.Ala65_Ala74del) n.335_364del | gnomAD v4 |
| 15 | g.89333596_89333626delinsTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC | CA2194573254 | POLG,POLGARF | c.129_159delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Gln43=) c.184_214delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA (p.Ala62=) n.327_357delinsGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAA | |
| 15 | g.89333627_89333629dup | CA295634 | POLG,POLGARF | c.156_158dup (p.Gln53_Gln54insGln) c.211_213dup (p.Ala71_Thr72insAla) n.354_356dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.89333624_89333629dup | CA316621 | POLG,POLGARF | c.153_158dup (p.Gln53_Gln54insGlnGln) c.208_213dup (p.Ala71_Thr72insAlaAla) n.351_356dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333621_89333629dup | CA316618 | POLG,POLGARF | c.150_158dup (p.Gln53_Gln54insGlnGlnGln) c.205_213dup (p.Ala71_Thr72insAlaAlaAla) n.348_356dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333618_89333629dup | CA658658323 | POLG,POLGARF | c.147_158dup (p.Gln53_Gln54insGlnGlnGlnGln) c.202_213dup (p.Ala71_Thr72insAlaAlaAlaAla) n.345_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333615_89333629dup | CA16620028 | POLG,POLGARF | c.144_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGln) c.199_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAla) n.342_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333612_89333629dup | CA658798420 | POLG,POLGARF | c.141_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGln) c.196_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAla) n.339_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333609_89333629dup | CA972594306 | POLG,POLGARF | c.138_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGln) c.193_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAla) n.336_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333606_89333629dup | CA2630256957 | POLG,POLGARF | c.135_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGln) c.190_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAla) n.333_356dup | gnomAD v4 |
| 15 | g.89333603_89333629dup | CA716918173 | POLG,POLGARF | c.132_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGlnGln) c.187_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAlaAla) n.330_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333600_89333629dup | CA972594257 | POLG,POLGARF | c.129_158dup (p.Gln53_Gln54insGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) c.184_213dup (p.Ala71_Thr72insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) n.327_356dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333627_89333629del | CA295632 | POLG,POLGARF | c.156_158del (p.Gln53del) c.211_213del (p.Ala71del) n.354_356del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 15 | g.89333624_89333629del | CA295636 | POLG,POLGARF | c.153_158del (p.Gln52_Gln53del) c.208_213del (p.Ala70_Ala71del) n.351_356del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89333621_89333629del | CA316616 | POLG,POLGARF | c.150_158del (p.Gln51_Gln53del) c.205_213del (p.Ala69_Ala71del) n.348_356del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333618_89333629del | CA316614 | POLG,POLGARF | c.147_158del (p.Gln50_Gln53del) c.202_213del (p.Ala68_Ala71del) n.345_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 15 | g.89333615_89333629del | CA316612 | POLG,POLGARF | c.144_158del (p.Gln49_Gln53del) c.199_213del (p.Ala67_Ala71del) n.342_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333612_89333629del | CA316610 | POLG,POLGARF | c.141_158del (p.Gln48_Gln53del) c.196_213del (p.Ala66_Ala71del) n.339_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333609_89333629del | CA10606382 | POLG,POLGARF | c.138_158del (p.Gln47_Gln53del) c.193_213del (p.Ala65_Ala71del) n.336_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333606_89333629del | CA972594248 | POLG,POLGARF | c.135_158del (p.Gln46_Gln53del) c.190_213del (p.Ala64_Ala71del) n.333_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333603_89333629del | CA2580612702 | POLG,POLGARF | c.132_158del (p.Gln45_Gln53del) c.187_213del (p.Ala63_Ala71del) n.330_356del | ClinVar dbSNP gnomAD v4 |
| 15 | g.89333600_89333629del | CA10602186 | POLG,POLGARF | c.129_158del (p.Gln44_Gln53del) c.184_213del (p.Ala62_Ala71del) n.327_356del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333606_89333632dup | CA2630256961 | POLG,POLGARF | c.125_151dup (p.Gln50_Gln51insArgGlnGlnGlnGlnGlnGlnGlnGln) c.180_206dup (p.Ala69_Ala70insAlaAlaAlaAlaAlaAlaAlaAlaAla) n.323_349dup | gnomAD v4 |
| 15 | g.89333606_89333632del | CA912994748 | POLG,POLGARF | c.125_151del (p.Arg42_Gln50del) c.180_206del (p.Ala61_Ala69del) n.323_349del | |
| 15 | g.89333609_89333632dup | CA2630256964 | POLG,POLGARF | c.125_148dup (p.Gln49_Gln50insArgGlnGlnGlnGlnGlnGlnGln) c.180_203dup (p.Ala68_Ala69insAlaAlaAlaAlaAlaAlaAlaAla) n.323_346dup | gnomAD v4 |
| 15 | g.89333609_89333632del | CA2575828992 | POLG,POLGARF | c.125_148del (p.Arg42_Gln49del) c.180_203del (p.Ala61_Ala68del) n.323_346del | |
| 15 | g.89333609_89333630delinsTGCTGCTGCTGCTGCTGCTGCC | CA2194573423 | POLG,POLGARF | c.125_146delinsGGCAGCAGCAGCAGCAGCAGCA (p.Arg42=) c.180_201delinsGGCAGCAGCAGCAGCAGCAGCA (p.Ala60=) n.323_344delinsGGCAGCAGCAGCAGCAGCAGCA | |
| 15 | g.89333612_89333632dup | CA2573151278 | POLG,POLGARF | c.125_145dup (p.Gln48_Gln49insArgGlnGlnGlnGlnGlnGln) c.180_200dup (p.Ala67_Ala68insAlaAlaAlaAlaAlaAlaAla) n.323_343dup | ClinVar dbSNP |
| 15 | g.89333612_89333632del | CA7725186 | POLG,POLGARF | c.125_145del (p.Arg42_Gln48del) c.180_200del (p.Ala61_Ala67del) n.323_343del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 15 | g.89333612_89333627del | CA2597948793 | POLG,POLGARF | c.128_143del (p.Gln43ArgfsTer?) c.183_198del (p.Ala62GlnfsTer?) n.326_341del | gnomAD v3 gnomAD v4 |
| 15 | g.89333612_89333630delinsTGCTGCTGCTGCTGCTGCC | CA2194573449 | POLG,POLGARF | c.125_143delinsGGCAGCAGCAGCAGCAGCA (p.Arg42=) c.180_198delinsGGCAGCAGCAGCAGCAGCA (p.Ala60=) n.323_341delinsGGCAGCAGCAGCAGCAGCA | |
| 15 | g.89333612_89333636delinsTGCTGCTGCTGCTGCTGCCGCCGCC | CA2194573447 | POLG,POLGARF | c.119_143delinsGGCGGCGGCAGCAGCAGCAGCAGCA (p.Arg40=) c.174_198delinsGGCGGCGGCAGCAGCAGCAGCAGCA (p.Ala58=) n.317_341delinsGGCGGCGGCAGCAGCAGCAGCAGCA | |
| 15 | g.89333615_89333632dup | CA619857523 | POLG,POLGARF | c.125_142dup (p.Gln47_Gln48insArgGlnGlnGlnGlnGln) c.180_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAla) n.323_340dup | gnomAD v2 gnomAD v3 |
| 15 | g.89333615_89333632del | CA619857524 | POLG,POLGARF | c.125_142del (p.Arg42_Gln47del) c.180_197del (p.Ala61_Ala66del) n.323_340del | dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.89333615_89333635dup | CA2630256967 | POLG,POLGARF | c.122_142dup (p.Gln47_Gln48insArgArgGlnGlnGlnGlnGln) c.177_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAla) n.320_340dup | gnomAD v4 |
| 15 | g.89333618_89333641dup | CA2740096761 | POLG,POLGARF | c.119_142dup (p.Gln47_Gln48insArgArgArgGlnGlnGlnGlnGln) c.174_197dup (p.Ala66_Ala67insAlaAlaAlaAlaAlaAlaAlaAla) n.317_340dup | ClinVar |
| 15 | g.89333618_89333641del | CA2194573456 | POLG,POLGARF | c.119_142del (p.Arg40_Gln47del) c.174_197del (p.Ala59_Ala66del) n.317_340del | dbSNP gnomAD v4 |
| 15 | g.89333615_89333630delinsTGCTGCTGCTGCTGCC | CA2194573469 | POLG,POLGARF | c.125_140delinsGGCAGCAGCAGCAGCA (p.Arg42=) c.180_195delinsGGCAGCAGCAGCAGCA (p.Ala60=) n.323_338delinsGGCAGCAGCAGCAGCA | |
| 15 | g.89333618_89333632dup | CA10602183 | POLG,POLGARF | c.125_139dup (p.Gln46_Gln47insArgGlnGlnGlnGln) c.180_194dup (p.Ala65_Ala66insAlaAlaAlaAlaAla) n.323_337dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333618_89333632del | CA7725190 | POLG,POLGARF | c.125_139del (p.Arg42_Gln46del) c.180_194del (p.Ala61_Ala65del) n.323_337del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.89333621_89333641dup | CA972594348 | POLG,POLGARF | c.119_139dup (p.Gln46_Gln47insArgArgArgGlnGlnGlnGln) c.174_194dup (p.Ala65_Ala66insAlaAlaAlaAlaAlaAlaAla) n.317_337dup | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333621_89333641del | CA2575828993 | POLG,POLGARF | c.119_139del (p.Arg40_Gln46del) c.174_194del (p.Ala59_Ala65del) n.317_337del | |
| 15 | g.89333617_89333627delinsCTGCTGCTGCT | CA2194573503 | POLG,POLGARF | c.128_138delinsAGCAGCAGCAG (p.Gln43=) c.183_193delinsAGCAGCAGCAG (p.Ala61=) n.326_336delinsAGCAGCAGCAG | |
| 15 | g.89333618_89333627del | CA972594354 | POLG,POLGARF | c.128_137del (p.Gln43ArgfsTer?) c.183_192del (p.Ala62GlnfsTer?) n.326_335del | dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.89333618_89333627delinsC | CA2580090393 | POLG,POLGARF | c.128_137delinsG (p.Gln43_Gln46delinsArg) c.183_192delinsG (p.Ala62_Ala64del) n.326_335delinsG | ClinVar |
| 15 | g.89333618_89333630delinsTGCTGCTGCTGCC | CA2194573515 | POLG,POLGARF | c.125_137delinsGGCAGCAGCAGCA (p.Arg42=) c.180_192delinsGGCAGCAGCAGCA (p.Ala60=) n.323_335delinsGGCAGCAGCAGCA | |
| 15 | g.89333626_89333627insCGCCGCCGCTGCTGC | CA2580612706 | POLG,POLGARF | c.136_137insGGCGGCGGCAGCAGC (p.Gln45_Gln46insArgArgArgGlnGln) c.191_192insGGCGGCGGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAla) n.334_335insGGCGGCGGCAGCAGC | dbSNP |
| 15 | g.89333629_89333630insTGCCGCTGCTGCTGC | CA2194573525 | POLG,POLGARF | c.136_137insGGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnGlnGlnGln) c.191_192insGGCAGCAGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAla) n.334_335insGGCAGCAGCAGCAGC | dbSNP |
| 15 | g.89333629_89333630insTGCTGCCGCCGCCGCTGCCGCTGCTGCTGC | CA2194573527 | POLG,POLGARF | c.136_137insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Gln45_Gln46insArgGlnArgArgArgGlnGlnGlnGlnGln) c.191_192insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC (p.Ala64_Ala65insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla) n.334_335insGGCAGCGGCGGCGGCAGCAGCAGCAGCAGC | dbSNP |
| 15 | g.89333621_89333632dup | CA2630256971 | POLG,POLGARF | c.125_136dup (p.Gln45_Gln46insArgGlnGlnGln) c.180_191dup (p.Ala64_Ala65insAlaAlaAlaAla) n.323_334dup | gnomAD v4 |