| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.44908817_44908870del | CA2695228866 | APOE | c.521_574del (p.Gln174_Gly191del) c.599_652del (p.Gln200_Gly217del) | |
| 19 | g.44908822C>A | CA406304189 | APOE | c.526C>A (p.Arg176Ser) c.604C>A (p.Arg202Ser) | gnomAD v4 |
| 19 | g.44908822C= | CA2338167904 | APOE | c.526C= (p.Arg176=) c.604C= (p.Arg202=) | |
| 19 | g.44908822C>G | CA406304190 | APOE | c.526C>G (p.Arg176Gly) c.604C>G (p.Arg202Gly) | |
| 19 | g.44908822C>T | CA127498 | APOE | c.526C>T (p.Arg176Cys) c.604C>T (p.Arg202Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.[44908822C>T;44909021G>A] | CA041377 | APOE | c.[526C>T;725G>A] (p.[Arg176Cys;Arg242Gln]) c.[604C>T;803G>A] (p.[Arg202Cys;Arg268Gln]) | ClinVar |
| 19 | g.[44908822C>T;44909057T>A] | CA041493 | APOE | c.[526C>T;761T>A] (p.[Arg176Cys;Val254Glu]) c.[604C>T;839T>A] (p.[Arg202Cys;Val280Glu]) | ClinVar |
| 19 | g.44908823G>A | CA406304193 | APOE | c.527G>A (p.Arg176His) c.605G>A (p.Arg202His) | COSMIC |
| 19 | g.44908823G>C | CA406304192 | APOE | c.527G>C (p.Arg176Pro) c.605G>C (p.Arg202Pro) | |
| 19 | g.44908823G>T | CA406304191 | APOE | c.527G>T (p.Arg176Leu) c.605G>T (p.Arg202Leu) | gnomAD v4 |
| 19 | g.44908824C>A | CA507947882 | APOE | c.528C>A (p.Arg176=) c.606C>A (p.Arg202=) | gnomAD v4 |
| 19 | g.44908824C= | CA2338167905 | APOE | c.528C= (p.Arg176=) c.606C= (p.Arg202=) | |
| 19 | g.44908824C>G | CA507947883 | APOE | c.528C>G (p.Arg176=) c.606C>G (p.Arg202=) | |
| 19 | g.44908824C>T | CA507947884 | APOE | c.528C>T (p.Arg176=) c.606C>T (p.Arg202=) | dbSNP gnomAD v4 |
| 19 | g.44908825C>A | CA406304194 | APOE | c.529C>A (p.Leu177Met) c.607C>A (p.Leu203Met) | gnomAD v4 |
| 19 | g.44908825C= | CA2338167906 | APOE | c.529C= (p.Leu177=) c.607C= (p.Leu203=) | |
| 19 | g.44908825C>G | CA406304195 | APOE | c.529C>G (p.Leu177Val) c.607C>G (p.Leu203Val) | |
| 19 | g.44908825C>T | CA507947885 | APOE | c.529C>T (p.Leu177=) c.607C>T (p.Leu203=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908826_44908827insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT | CA2510558622 | APOE | c.530_531insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu177_Ala178insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) c.608_609insTCTACGTGATATGCTTTTTCACCAGAACCACCATTTAGAATTTCTTCTAATTTATTATATTGATCTAACATCCATTCGATGTAAGTTTTTCCGTCT (p.Leu203_Ala204insLeuArgAspMetLeuPheHisGlnAsnHisHisLeuGluPheLeuLeuIleTyrTyrIleAspLeuThrSerIleArgCysLysPhePheArgLeu) | |
| 19 | g.44908826T>A | CA406304196 | APOE | c.530T>A (p.Leu177Gln) c.608T>A (p.Leu203Gln) | |
| 19 | g.44908826T>C | CA406304197 | APOE | c.530T>C (p.Leu177Pro) c.608T>C (p.Leu203Pro) | gnomAD v4 |
| 19 | g.44908826T>G | CA406304198 | APOE | c.530T>G (p.Leu177Arg) c.608T>G (p.Leu203Arg) | |
| 19 | g.44908827G>A | CA507947887 | APOE | c.531G>A (p.Leu177=) c.609G>A (p.Leu203=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908827G>C | CA507947889 | APOE | c.531G>C (p.Leu177=) c.609G>C (p.Leu203=) | |
| 19 | g.44908827G= | CA2338167907 | APOE | c.531G= (p.Leu177=) c.609G= (p.Leu203=) | |
| 19 | g.44908827G>T | CA507947890 | APOE | c.531G>T (p.Leu177=) c.609G>T (p.Leu203=) | gnomAD v4 |
| 19 | g.44908828G>A | CA406304199 | APOE | c.532G>A (p.Ala178Thr) c.610G>A (p.Ala204Thr) | gnomAD v4 |
| 19 | g.44908828G>C | CA406304200 | APOE | c.532G>C (p.Ala178Pro) c.610G>C (p.Ala204Pro) | |
| 19 | g.44908828G>T | CA406304201 | APOE | c.532G>T (p.Ala178Ser) c.610G>T (p.Ala204Ser) | gnomAD v4 |
| 19 | g.44908829C>A | CA406304202 | APOE | c.533C>A (p.Ala178Glu) c.611C>A (p.Ala204Glu) | gnomAD v4 |
| 19 | g.44908829C>G | CA406304203 | APOE | c.533C>G (p.Ala178Gly) c.611C>G (p.Ala204Gly) | |
| 19 | g.44908829C>T | CA406304204 | APOE | c.533C>T (p.Ala178Val) c.611C>T (p.Ala204Val) | gnomAD v4 |
| 19 | g.44908830A= | CA2338167908 | APOE | c.534A= (p.Ala178=) c.612A= (p.Ala204=) | |
| 19 | g.44908830A>C | CA507947892 | APOE | c.534A>C (p.Ala178=) c.612A>C (p.Ala204=) | |
| 19 | g.44908830A>G | CA507947893 | APOE | c.534A>G (p.Ala178=) c.612A>G (p.Ala204=) | gnomAD v4 |
| 19 | g.44908830A>T | CA507947894 | APOE | c.534A>T (p.Ala178=) c.612A>T (p.Ala204=) | dbSNP gnomAD v4 |
| 19 | g.44908831G>A | CA406304205 | APOE | c.535G>A (p.Val179Met) c.613G>A (p.Val205Met) | |
| 19 | g.44908831G>C | CA406304206 | APOE | c.535G>C (p.Val179Leu) c.613G>C (p.Val205Leu) | |
| 19 | g.44908831G>T | CA406304207 | APOE | c.535G>T (p.Val179Leu) c.613G>T (p.Val205Leu) | |
| 19 | g.44908832T>A | CA406304210 | APOE | c.536T>A (p.Val179Glu) c.614T>A (p.Val205Glu) | gnomAD v4 |
| 19 | g.44908832T>C | CA406304209 | APOE | c.536T>C (p.Val179Ala) c.614T>C (p.Val205Ala) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.44908832T>G | CA406304208 | APOE | c.536T>G (p.Val179Gly) c.614T>G (p.Val205Gly) | |
| 19 | g.44908832T= | CA2338167909 | APOE | c.536T= (p.Val179=) c.614T= (p.Val205=) | |
| 19 | g.44908833G>A | CA507947895 | APOE | c.537G>A (p.Val179=) c.615G>A (p.Val205=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.44908833G>C | CA507947896 | APOE | c.537G>C (p.Val179=) c.615G>C (p.Val205=) | |
| 19 | g.44908833G= | CA2338167910 | APOE | c.537G= (p.Val179=) c.615G= (p.Val205=) | |
| 19 | g.44908833G>T | CA507947897 | APOE | c.537G>T (p.Val179=) c.615G>T (p.Val205=) | |
| 19 | g.44908834T>A | CA406304211 | APOE | c.538T>A (p.Tyr180Asn) c.616T>A (p.Tyr206Asn) | gnomAD v4 |
| 19 | g.44908834T>C | CA9506076 | APOE | c.538T>C (p.Tyr180His) c.616T>C (p.Tyr206His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.44908834T>G | CA406304212 | APOE | c.538T>G (p.Tyr180Asp) c.616T>G (p.Tyr206Asp) | dbSNP |