Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.28284914T>A | CA968034664 | HERC2 | c.323-4627A>T (n.323-4627A>T) n.218-4627A>T c.*193-4627A>T (n.*193-4627A>T) c.209-4627A>T (n.209-4627A>T) c.322+7974A>T (n.322+7974A>T) n.452-4627A>T n.453-4627A>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284914T= | CA2166566451 | HERC2 | c.323-4627A= (n.323-4627A=) n.218-4627A= c.*193-4627A= (n.*193-4627A=) c.209-4627A= (n.209-4627A=) c.322+7974A= (n.322+7974A=) n.452-4627A= n.453-4627A= | |
15 | g.28284915C>A | CA2590339759 | HERC2 | c.323-4628G>T (n.323-4628G>T) n.218-4628G>T c.*193-4628G>T (n.*193-4628G>T) c.209-4628G>T (n.209-4628G>T) c.322+7973G>T (n.322+7973G>T) n.452-4628G>T n.453-4628G>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284915C= | CA2166566452 | HERC2 | c.323-4628G= (n.323-4628G=) n.218-4628G= c.*193-4628G= (n.*193-4628G=) c.209-4628G= (n.209-4628G=) c.322+7973G= (n.322+7973G=) n.452-4628G= n.453-4628G= | |
15 | g.28284915C>T | CA2166566453 | HERC2 | c.323-4628G>A (n.323-4628G>A) n.218-4628G>A c.*193-4628G>A (n.*193-4628G>A) c.209-4628G>A (n.209-4628G>A) c.322+7973G>A (n.322+7973G>A) n.452-4628G>A n.453-4628G>A | dbSNP |
15 | g.28284916T>A | CA2166566455 | HERC2 | c.323-4629A>T (n.323-4629A>T) n.218-4629A>T c.*193-4629A>T (n.*193-4629A>T) c.209-4629A>T (n.209-4629A>T) c.322+7972A>T (n.322+7972A>T) n.452-4629A>T n.453-4629A>T | dbSNP |
15 | g.28284916T>C | CA711738838 | HERC2 | c.323-4629A>G (n.323-4629A>G) n.218-4629A>G c.*193-4629A>G (n.*193-4629A>G) c.209-4629A>G (n.209-4629A>G) c.322+7972A>G (n.322+7972A>G) n.452-4629A>G n.453-4629A>G | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284916T= | CA2166566454 | HERC2 | c.323-4629A= (n.323-4629A=) n.218-4629A= c.*193-4629A= (n.*193-4629A=) c.209-4629A= (n.209-4629A=) c.322+7972A= (n.322+7972A=) n.452-4629A= n.453-4629A= | |
15 | g.28284917C= | CA2166566456 | HERC2 | c.323-4630G= (n.323-4630G=) n.218-4630G= c.*193-4630G= (n.*193-4630G=) c.209-4630G= (n.209-4630G=) c.322+7971G= (n.322+7971G=) n.452-4630G= n.453-4630G= | |
15 | g.28284917C>G | CA616722869 | HERC2 | c.323-4630G>C (n.323-4630G>C) n.218-4630G>C c.*193-4630G>C (n.*193-4630G>C) c.209-4630G>C (n.209-4630G>C) c.322+7971G>C (n.322+7971G>C) n.452-4630G>C n.453-4630G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284917C>T | CA267957193 | HERC2 | c.323-4630G>A (n.323-4630G>A) n.218-4630G>A c.*193-4630G>A (n.*193-4630G>A) c.209-4630G>A (n.209-4630G>A) c.322+7971G>A (n.322+7971G>A) n.452-4630G>A n.453-4630G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284917_28284918delinsCG | CA2166566457 | HERC2 | c.323-4631_323-4630delinsCG (n.323-4631_323-4630delinsCG) n.218-4631_218-4630delinsCG c.*193-4631_*193-4630delinsCG (n.*193-4631_*193-4630delinsCG) c.209-4631_209-4630delinsCG (n.209-4631_209-4630delinsCG) c.322+7970_322+7971delinsCG (n.322+7970_322+7971delinsCG) n.452-4631_452-4630delinsCG n.453-4631_453-4630delinsCG | |
15 | g.28284917_28284918insA | CA616722870 | HERC2 | c.323-4631_323-4630insT (n.323-4631_323-4630insT) n.218-4631_218-4630insT c.*193-4631_*193-4630insT (n.*193-4631_*193-4630insT) c.209-4631_209-4630insT (n.209-4631_209-4630insT) c.322+7970_322+7971insT (n.322+7970_322+7971insT) n.452-4631_452-4630insT n.453-4631_453-4630insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284917_28284918insT | CA968034679 | HERC2 | c.323-4631_323-4630insA (n.323-4631_323-4630insA) n.218-4631_218-4630insA c.*193-4631_*193-4630insA (n.*193-4631_*193-4630insA) c.209-4631_209-4630insA (n.209-4631_209-4630insA) c.322+7970_322+7971insA (n.322+7970_322+7971insA) n.452-4631_452-4630insA n.453-4631_453-4630insA | gnomAD v3 gnomAD v4 |
15 | g.28284918G>A | CA711738840 | HERC2 | c.323-4631C>T (n.323-4631C>T) n.218-4631C>T c.*193-4631C>T (n.*193-4631C>T) c.209-4631C>T (n.209-4631C>T) c.322+7970C>T (n.322+7970C>T) n.452-4631C>T n.453-4631C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284918G>C | CA711738845 | HERC2 | c.323-4631C>G (n.323-4631C>G) n.218-4631C>G c.*193-4631C>G (n.*193-4631C>G) c.209-4631C>G (n.209-4631C>G) c.322+7970C>G (n.322+7970C>G) n.452-4631C>G n.453-4631C>G | dbSNP |
15 | g.28284918G= | CA2166566458 | HERC2 | c.323-4631C= (n.323-4631C=) n.218-4631C= c.*193-4631C= (n.*193-4631C=) c.209-4631C= (n.209-4631C=) c.322+7970C= (n.322+7970C=) n.452-4631C= n.453-4631C= | |
15 | g.28284918G>T | CA2803514278 | HERC2 | c.323-4631C>A (n.323-4631C>A) n.218-4631C>A c.*193-4631C>A (n.*193-4631C>A) c.209-4631C>A (n.209-4631C>A) c.322+7970C>A (n.322+7970C>A) n.452-4631C>A n.453-4631C>A | |
15 | g.28284918_28284919del | CA968034683 | HERC2 | c.323-4632_323-4631del (n.323-4632_323-4631del) n.218-4632_218-4631del c.*193-4632_*193-4631del (n.*193-4632_*193-4631del) c.209-4632_209-4631del (n.209-4632_209-4631del) c.322+7969_322+7970del (n.322+7969_322+7970del) n.452-4632_452-4631del n.453-4632_453-4631del | gnomAD v3 gnomAD v4 |
15 | g.28284919dup | CA616722871 | HERC2 | c.323-4631dup (n.323-4631dup) n.218-4631dup c.*193-4631dup (n.*193-4631dup) c.209-4631dup (n.209-4631dup) c.322+7970dup (n.322+7970dup) n.452-4631dup n.453-4631dup | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284919del | CA2166566461 | HERC2 | c.323-4631del (n.323-4631del) n.218-4631del c.*193-4631del (n.*193-4631del) c.209-4631del (n.209-4631del) c.322+7970del (n.322+7970del) n.452-4631del n.453-4631del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284918_28284920delinsGGA | CA2166566460 | HERC2 | c.323-4633_323-4631delinsTCC (n.323-4633_323-4631delinsTCC) n.218-4633_218-4631delinsTCC c.*193-4633_*193-4631delinsTCC (n.*193-4633_*193-4631delinsTCC) c.209-4633_209-4631delinsTCC (n.209-4633_209-4631delinsTCC) c.322+7968_322+7970delinsTCC (n.322+7968_322+7970delinsTCC) n.452-4633_452-4631delinsTCC n.453-4633_453-4631delinsTCC | |
15 | g.28284918_28284930delinsGGAAAAAAAAAAA | CA2166566459 | HERC2 | c.323-4643_323-4631delinsTTTTTTTTTTTCC (n.323-4643_323-4631delinsTTTTTTTTTTTCC) n.218-4643_218-4631delinsTTTTTTTTTTTCC c.*193-4643_*193-4631delinsTTTTTTTTTTTCC (n.*193-4643_*193-4631delinsTTTTTTTTTTTCC) c.209-4643_209-4631delinsTTTTTTTTTTTCC (n.209-4643_209-4631delinsTTTTTTTTTTTCC) c.322+7958_322+7970delinsTTTTTTTTTTTCC (n.322+7958_322+7970delinsTTTTTTTTTTTCC) n.452-4643_452-4631delinsTTTTTTTTTTTCC n.453-4643_453-4631delinsTTTTTTTTTTTCC | |
15 | g.28284918_28284919insA | CA616722872 | HERC2 | c.323-4632_323-4631insT (n.323-4632_323-4631insT) n.218-4632_218-4631insT c.*193-4632_*193-4631insT (n.*193-4632_*193-4631insT) c.209-4632_209-4631insT (n.209-4632_209-4631insT) c.322+7969_322+7970insT (n.322+7969_322+7970insT) n.452-4632_452-4631insT n.453-4632_453-4631insT | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284918_28284919insC | CA2803514279 | HERC2 | c.323-4632_323-4631insG (n.323-4632_323-4631insG) n.218-4632_218-4631insG c.*193-4632_*193-4631insG (n.*193-4632_*193-4631insG) c.209-4632_209-4631insG (n.209-4632_209-4631insG) c.322+7969_322+7970insG (n.322+7969_322+7970insG) n.452-4632_452-4631insG n.453-4632_453-4631insG | |
15 | g.28284918_28284919insT | CA2166566466 | HERC2 | c.323-4632_323-4631insA (n.323-4632_323-4631insA) n.218-4632_218-4631insA c.*193-4632_*193-4631insA (n.*193-4632_*193-4631insA) c.209-4632_209-4631insA (n.209-4632_209-4631insA) c.322+7969_322+7970insA (n.322+7969_322+7970insA) n.452-4632_452-4631insA n.453-4632_453-4631insA | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284918_28284919insAA | CA2565347455 | HERC2 | c.323-4632_323-4631insTT (n.323-4632_323-4631insTT) n.218-4632_218-4631insTT c.*193-4632_*193-4631insTT (n.*193-4632_*193-4631insTT) c.209-4632_209-4631insTT (n.209-4632_209-4631insTT) c.322+7969_322+7970insTT (n.322+7969_322+7970insTT) n.452-4632_452-4631insTT n.453-4632_453-4631insTT | |
15 | g.28284919G>A | CA711738855 | HERC2 | c.323-4632C>T (n.323-4632C>T) n.218-4632C>T c.*193-4632C>T (n.*193-4632C>T) c.209-4632C>T (n.209-4632C>T) c.322+7969C>T (n.322+7969C>T) n.452-4632C>T n.453-4632C>T | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284919G= | CA2166566465 | HERC2 | c.323-4632C= (n.323-4632C=) n.218-4632C= c.*193-4632C= (n.*193-4632C=) c.209-4632C= (n.209-4632C=) c.322+7969C= (n.322+7969C=) n.452-4632C= n.453-4632C= | |
15 | g.28284919G>T | CA968034696 | HERC2 | c.323-4632C>A (n.323-4632C>A) n.218-4632C>A c.*193-4632C>A (n.*193-4632C>A) c.209-4632C>A (n.209-4632C>A) c.322+7969C>A (n.322+7969C>A) n.452-4632C>A n.453-4632C>A | gnomAD v3 gnomAD v4 |
15 | g.28284919_28284920del | CA2166566462 | HERC2 | c.323-4633_323-4632del (n.323-4633_323-4632del) n.218-4633_218-4632del c.*193-4633_*193-4632del (n.*193-4633_*193-4632del) c.209-4633_209-4632del (n.209-4633_209-4632del) c.322+7968_322+7969del (n.322+7968_322+7969del) n.452-4633_452-4632del n.453-4633_453-4632del | dbSNP |
15 | g.28284919_28284930del | CA2166566463 | HERC2 | c.323-4643_323-4632del (n.323-4643_323-4632del) n.218-4643_218-4632del c.*193-4643_*193-4632del (n.*193-4643_*193-4632del) c.209-4643_209-4632del (n.209-4643_209-4632del) c.322+7958_322+7969del (n.322+7958_322+7969del) n.452-4643_452-4632del n.453-4643_453-4632del | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284919_28284940delinsGAAAAAAAAAAAAAAAAAAAAA | CA2166566464 | HERC2 | c.323-4653_323-4632delinsTTTTTTTTTTTTTTTTTTTTTC (n.323-4653_323-4632delinsTTTTTTTTTTTTTTTTTTTTTC) n.218-4653_218-4632delinsTTTTTTTTTTTTTTTTTTTTTC c.*193-4653_*193-4632delinsTTTTTTTTTTTTTTTTTTTTTC (n.*193-4653_*193-4632delinsTTTTTTTTTTTTTTTTTTTTTC) c.209-4653_209-4632delinsTTTTTTTTTTTTTTTTTTTTTC (n.209-4653_209-4632delinsTTTTTTTTTTTTTTTTTTTTTC) c.322+7948_322+7969delinsTTTTTTTTTTTTTTTTTTTTTC (n.322+7948_322+7969delinsTTTTTTTTTTTTTTTTTTTTTC) n.452-4653_452-4632delinsTTTTTTTTTTTTTTTTTTTTTC n.453-4653_453-4632delinsTTTTTTTTTTTTTTTTTTTTTC | |
15 | g.28284919_28284920insGA | CA968034995 | HERC2 | c.323-4633_323-4632insTC (n.323-4633_323-4632insTC) n.218-4633_218-4632insTC c.*193-4633_*193-4632insTC (n.*193-4633_*193-4632insTC) c.209-4633_209-4632insTC (n.209-4633_209-4632insTC) c.322+7968_322+7969insTC (n.322+7968_322+7969insTC) n.452-4633_452-4632insTC n.453-4633_453-4632insTC | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284919_28284920insGAA | CA968034992 | HERC2 | c.323-4633_323-4632insTTC (n.323-4633_323-4632insTTC) n.218-4633_218-4632insTTC c.*193-4633_*193-4632insTTC (n.*193-4633_*193-4632insTTC) c.209-4633_209-4632insTTC (n.209-4633_209-4632insTTC) c.322+7968_322+7969insTTC (n.322+7968_322+7969insTTC) n.452-4633_452-4632insTTC n.453-4633_453-4632insTTC | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284919_28284920insGAAA | CA968034989 | HERC2 | c.323-4633_323-4632insTTTC (n.323-4633_323-4632insTTTC) n.218-4633_218-4632insTTTC c.*193-4633_*193-4632insTTTC (n.*193-4633_*193-4632insTTTC) c.209-4633_209-4632insTTTC (n.209-4633_209-4632insTTTC) c.322+7968_322+7969insTTTC (n.322+7968_322+7969insTTTC) n.452-4633_452-4632insTTTC n.453-4633_453-4632insTTTC | gnomAD v3 gnomAD v4 |
15 | g.28284919_28284920insGAAAA | CA2531313985 | HERC2 | c.323-4633_323-4632insTTTTC (n.323-4633_323-4632insTTTTC) n.218-4633_218-4632insTTTTC c.*193-4633_*193-4632insTTTTC (n.*193-4633_*193-4632insTTTTC) c.209-4633_209-4632insTTTTC (n.209-4633_209-4632insTTTTC) c.322+7968_322+7969insTTTTC (n.322+7968_322+7969insTTTTC) n.452-4633_452-4632insTTTTC n.453-4633_453-4632insTTTTC | |
15 | g.28284919_28284920insGAAAAA | CA968034986 | HERC2 | c.323-4633_323-4632insTTTTTC (n.323-4633_323-4632insTTTTTC) n.218-4633_218-4632insTTTTTC c.*193-4633_*193-4632insTTTTTC (n.*193-4633_*193-4632insTTTTTC) c.209-4633_209-4632insTTTTTC (n.209-4633_209-4632insTTTTTC) c.322+7968_322+7969insTTTTTC (n.322+7968_322+7969insTTTTTC) n.452-4633_452-4632insTTTTTC n.453-4633_453-4632insTTTTTC | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284920A= | CA2166566467 | HERC2 | c.323-4633T= (n.323-4633T=) n.218-4633T= c.*193-4633T= (n.*193-4633T=) c.209-4633T= (n.209-4633T=) c.322+7968T= (n.322+7968T=) n.452-4633T= n.453-4633T= | |
15 | g.28284920A>G | CA488981740 | HERC2 | c.323-4633T>C (n.323-4633T>C) n.218-4633T>C c.*193-4633T>C (n.*193-4633T>C) c.209-4633T>C (n.209-4633T>C) c.322+7968T>C (n.322+7968T>C) n.452-4633T>C n.453-4633T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
15 | g.28284920A>T | CA968034968 | HERC2 | c.323-4633T>A (n.323-4633T>A) n.218-4633T>A c.*193-4633T>A (n.*193-4633T>A) c.209-4633T>A (n.209-4633T>A) c.322+7968T>A (n.322+7968T>A) n.452-4633T>A n.453-4633T>A | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAA | CA968034899 | HERC2 | c.323-4633_323-4632insTTCTTT (n.323-4633_323-4632insTTCTTT) n.218-4633_218-4632insTTCTTT c.*193-4633_*193-4632insTTCTTT (n.*193-4633_*193-4632insTTCTTT) c.209-4633_209-4632insTTCTTT (n.209-4633_209-4632insTTCTTT) c.322+7968_322+7969insTTCTTT (n.322+7968_322+7969insTTCTTT) n.452-4633_452-4632insTTCTTT n.453-4633_453-4632insTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAA | CA968034915 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAA | CA968034917 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAA | CA968034853 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAAAA | CA968034978 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAA | CA968035003 | HERC2 | c.323-4633_323-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284922_28284923insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA2590339763 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTT | gnomAD v3 gnomAD v4 |
15 | g.28284923_28284924insGAAAAAAAAAAAAAAAAAAAAAA | CA968034897 | HERC2 | c.323-4633_323-4632insTTTTTTTTTTTTTTTTTTCTTTT (n.323-4633_323-4632insTTTTTTTTTTTTTTTTTTCTTTT) n.218-4633_218-4632insTTTTTTTTTTTTTTTTTTCTTTT c.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTCTTTT (n.*193-4633_*193-4632insTTTTTTTTTTTTTTTTTTCTTTT) c.209-4633_209-4632insTTTTTTTTTTTTTTTTTTCTTTT (n.209-4633_209-4632insTTTTTTTTTTTTTTTTTTCTTTT) c.322+7968_322+7969insTTTTTTTTTTTTTTTTTTCTTTT (n.322+7968_322+7969insTTTTTTTTTTTTTTTTTTCTTTT) n.452-4633_452-4632insTTTTTTTTTTTTTTTTTTCTTTT n.453-4633_453-4632insTTTTTTTTTTTTTTTTTTCTTTT | dbSNP gnomAD v3 gnomAD v4 |
15 | g.28284944_28284945insGAAAAAAACCAAGAACAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAA | CA968034893 | HERC2 | c.323-4633_323-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.323-4633_323-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT) n.218-4633_218-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT c.*193-4633_*193-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.*193-4633_*193-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT) c.209-4633_209-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.209-4633_209-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT) c.322+7968_322+7969insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT (n.322+7968_322+7969insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT) n.452-4633_452-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT n.453-4633_453-4632insTTTGTTTTTTGTTCTTGGTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT | gnomAD v3 gnomAD v4 |