Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.44909019_44909059delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG | CA2338168020 | APOE | c.723_763delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser241=) c.801_841delinsCCGGACCCGCGACCGCCTGGACGAGGTGAAGGAGCAGGTGG (p.Ser267=) | |
19 | g.44909024_44909063del | CA633478463 | APOE | c.728_767del (p.Thr243ArgfsTer?) c.806_845del (p.Thr269ArgfsTer?) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909025_44909040del | CA2585715458 | APOE | c.729_744del (p.Asp245Ter) c.807_822del (p.Asp271Ter) | gnomAD v4 |
19 | g.44909026del | CA2585715459 | APOE | c.730del (p.Arg244AlafsTer7) c.808del (p.Arg270AlafsTer7) | gnomAD v4 |
19 | g.44909025C>A | CA507947707 | APOE | c.729C>A (p.Thr243=) c.807C>A (p.Thr269=) | |
19 | g.44909025C= | CA2338168026 | APOE | c.729C= (p.Thr243=) c.807C= (p.Thr269=) | |
19 | g.44909025C>G | CA507947708 | APOE | c.729C>G (p.Thr243=) c.807C>G (p.Thr269=) | dbSNP |
19 | g.44909025C>T | CA507947709 | APOE | c.729C>T (p.Thr243=) c.807C>T (p.Thr269=) | dbSNP gnomAD v4 |
19 | g.44909026C>A | CA406304881 | APOE | c.730C>A (p.Arg244Ser) c.808C>A (p.Arg270Ser) | |
19 | g.44909026C= | CA2338168027 | APOE | c.730C= (p.Arg244=) c.808C= (p.Arg270=) | |
19 | g.44909026C>G | CA406304879 | APOE | c.730C>G (p.Arg244Gly) c.808C>G (p.Arg270Gly) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909026C>T | CA406304877 | APOE | c.730C>T (p.Arg244Cys) c.808C>T (p.Arg270Cys) | |
19 | g.44909027G>A | CA406304882 | APOE | c.731G>A (p.Arg244His) c.809G>A (p.Arg270His) | dbSNP gnomAD v4 |
19 | g.44909027G>C | CA406304886 | APOE | c.731G>C (p.Arg244Pro) c.809G>C (p.Arg270Pro) | |
19 | g.44909027G>T | CA406304887 | APOE | c.731G>T (p.Arg244Leu) c.809G>T (p.Arg270Leu) | gnomAD v4 COSMIC |
19 | g.44909028C>A | CA507947710 | APOE | c.732C>A (p.Arg244=) c.810C>A (p.Arg270=) | gnomAD v4 |
19 | g.44909028C>G | CA507947713 | APOE | c.732C>G (p.Arg244=) c.810C>G (p.Arg270=) | |
19 | g.44909028C>T | CA507947711 | APOE | c.732C>T (p.Arg244=) c.810C>T (p.Arg270=) | gnomAD v4 |
19 | g.44909029G>A | CA406304889 | APOE | c.733G>A (p.Asp245Asn) c.811G>A (p.Asp271Asn) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909029G>C | CA406304892 | APOE | c.733G>C (p.Asp245His) c.811G>C (p.Asp271His) | gnomAD v4 |
19 | g.44909029G= | CA2338168028 | APOE | c.733G= (p.Asp245=) c.811G= (p.Asp271=) | |
19 | g.44909029G>T | CA406304894 | APOE | c.733G>T (p.Asp245Tyr) c.811G>T (p.Asp271Tyr) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909030A>C | CA406304899 | APOE | c.734A>C (p.Asp245Ala) c.812A>C (p.Asp271Ala) | |
19 | g.44909030A>G | CA406304895 | APOE | c.734A>G (p.Asp245Gly) c.812A>G (p.Asp271Gly) | |
19 | g.44909030A>T | CA406304896 | APOE | c.734A>T (p.Asp245Val) c.812A>T (p.Asp271Val) | |
19 | g.44909031C>A | CA406304900 | APOE | c.735C>A (p.Asp245Glu) c.813C>A (p.Asp271Glu) | |
19 | g.44909031C= | CA2338168029 | APOE | c.735C= (p.Asp245=) c.813C= (p.Asp271=) | |
19 | g.44909031C>G | CA406304902 | APOE | c.735C>G (p.Asp245Glu) c.813C>G (p.Asp271Glu) | |
19 | g.44909031C>T | CA507947718 | APOE | c.735C>T (p.Asp245=) c.813C>T (p.Asp271=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909032dup | CA2585715460 | APOE | c.736dup (p.Arg246ProfsTer?) c.814dup (p.Arg272ProfsTer?) | gnomAD v4 |
19 | g.44909032C>A | CA406304904 | APOE | c.736C>A (p.Arg246Ser) c.814C>A (p.Arg272Ser) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909032C= | CA2338168030 | APOE | c.736C= (p.Arg246=) c.814C= (p.Arg272=) | |
19 | g.44909032C>G | CA406304907 | APOE | c.736C>G (p.Arg246Gly) c.814C>G (p.Arg272Gly) | |
19 | g.44909032C>T | CA127508 | APOE | c.736C>T (p.Arg246Cys) c.814C>T (p.Arg272Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.44909032_44909036dup | CA2585715461 | APOE | c.736_740dup (p.Asp248AlafsTer5) c.814_818dup (p.Asp274AlafsTer5) | gnomAD v4 |
19 | g.44909033G>A | CA406304910 | APOE | c.737G>A (p.Arg246His) c.815G>A (p.Arg272His) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909033G>C | CA406304912 | APOE | c.737G>C (p.Arg246Pro) c.815G>C (p.Arg272Pro) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.44909033G= | CA2338168031 | APOE | c.737G= (p.Arg246=) c.815G= (p.Arg272=) | |
19 | g.44909033G>T | CA406304913 | APOE | c.737G>T (p.Arg246Leu) c.815G>T (p.Arg272Leu) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.44909034C>A | CA507947722 | APOE | c.738C>A (p.Arg246=) c.816C>A (p.Arg272=) | gnomAD v4 |
19 | g.44909034C>G | CA507947723 | APOE | c.738C>G (p.Arg246=) c.816C>G (p.Arg272=) | |
19 | g.44909034C>T | CA507947724 | APOE | c.738C>T (p.Arg246=) c.816C>T (p.Arg272=) | |
19 | g.44909035C>A | CA406304916 | APOE | c.739C>A (p.Leu247Met) c.817C>A (p.Leu273Met) | gnomAD v4 |
19 | g.44909035C= | CA2740130020 | APOE | c.739C= (p.Leu247=) c.817C= (p.Leu273=) | |
19 | g.44909035C>G | CA406304918 | APOE | c.739C>G (p.Leu247Val) c.817C>G (p.Leu273Val) | ClinVar gnomAD v4 |
19 | g.44909035C>T | CA507947725 | APOE | c.739C>T (p.Leu247=) c.817C>T (p.Leu273=) | |
19 | g.44909036T>A | CA406304920 | APOE | c.740T>A (p.Leu247Gln) c.818T>A (p.Leu273Gln) | |
19 | g.44909036T>C | CA406304921 | APOE | c.740T>C (p.Leu247Pro) c.818T>C (p.Leu273Pro) | gnomAD v4 |
19 | g.44909036T>G | CA406304923 | APOE | c.740T>G (p.Leu247Arg) c.818T>G (p.Leu273Arg) | |
19 | g.44909037G>A | CA507947732 | APOE | c.741G>A (p.Leu247=) c.819G>A (p.Leu273=) | gnomAD v4 |