| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104826974C>A | CA374321579 | ABCA1 | c.2311G>T (p.Val771Leu) n.484G>T c.2131G>T (p.Val711Leu) c.2386G>T (p.Val796Leu) c.1948G>T (p.Val650Leu) c.2248G>T (p.Val750Leu) n.2699G>T | |
| 9 | g.104826974C= | CA1869916578 | ABCA1 | c.2311G= (p.Val771=) n.484G= c.2131G= (p.Val711=) c.2386G= (p.Val796=) c.1948G= (p.Val650=) c.2248G= (p.Val750=) n.2699G= | |
| 9 | g.104826974C>G | CA5168768 | ABCA1 | c.2311G>C (p.Val771Leu) n.484G>C c.2131G>C (p.Val711Leu) c.2386G>C (p.Val796Leu) c.1948G>C (p.Val650Leu) c.2248G>C (p.Val750Leu) n.2699G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826974C>T | CA5168767 | ABCA1 | c.2311G>A (p.Val771Met) n.484G>A c.2131G>A (p.Val711Met) c.2386G>A (p.Val796Met) c.1948G>A (p.Val650Met) c.2248G>A (p.Val750Met) n.2699G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826975G>A | CA466507748 | ABCA1 | c.2310C>T (p.Tyr770=) n.483C>T c.2130C>T (p.Tyr710=) c.2385C>T (p.Tyr795=) c.1947C>T (p.Tyr649=) c.2247C>T (p.Tyr749=) n.2698C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826975G>C | CA374321581 | ABCA1 | c.2310C>G (p.Tyr770Ter) n.483C>G c.2130C>G (p.Tyr710Ter) c.2385C>G (p.Tyr795Ter) c.1947C>G (p.Tyr649Ter) c.2247C>G (p.Tyr749Ter) n.2698C>G | dbSNP |
| 9 | g.104826975G= | CA1869916585 | ABCA1 | c.2310C= (p.Tyr770=) n.483C= c.2130C= (p.Tyr710=) c.2385C= (p.Tyr795=) c.1947C= (p.Tyr649=) c.2247C= (p.Tyr749=) n.2698C= | |
| 9 | g.104826975G>T | CA374321582 | ABCA1 | c.2310C>A (p.Tyr770Ter) n.483C>A c.2130C>A (p.Tyr710Ter) c.2385C>A (p.Tyr795Ter) c.1947C>A (p.Tyr649Ter) c.2247C>A (p.Tyr749Ter) n.2698C>A | |
| 9 | g.104826976T>A | CA374321583 | ABCA1 | c.2309A>T (p.Tyr770Phe) n.482A>T c.2129A>T (p.Tyr710Phe) c.2384A>T (p.Tyr795Phe) c.1946A>T (p.Tyr649Phe) c.2246A>T (p.Tyr749Phe) n.2697A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826976T>C | CA374321584 | ABCA1 | c.2309A>G (p.Tyr770Cys) n.482A>G c.2129A>G (p.Tyr710Cys) c.2384A>G (p.Tyr795Cys) c.1946A>G (p.Tyr649Cys) c.2246A>G (p.Tyr749Cys) n.2697A>G | |
| 9 | g.104826976T>G | CA374321585 | ABCA1 | c.2309A>C (p.Tyr770Ser) n.482A>C c.2129A>C (p.Tyr710Ser) c.2384A>C (p.Tyr795Ser) c.1946A>C (p.Tyr649Ser) c.2246A>C (p.Tyr749Ser) n.2697A>C | |
| 9 | g.104826976T= | CA1869916593 | ABCA1 | c.2309A= (p.Tyr770=) n.482A= c.2129A= (p.Tyr710=) c.2384A= (p.Tyr795=) c.1946A= (p.Tyr649=) c.2246A= (p.Tyr749=) n.2697A= | |
| 9 | g.104826977A>C | CA374321586 | ABCA1 | c.2308T>G (p.Tyr770Asp) n.481T>G c.2128T>G (p.Tyr710Asp) c.2383T>G (p.Tyr795Asp) c.1945T>G (p.Tyr649Asp) c.2245T>G (p.Tyr749Asp) n.2696T>G | |
| 9 | g.104826977A>G | CA374321587 | ABCA1 | c.2308T>C (p.Tyr770His) n.481T>C c.2128T>C (p.Tyr710His) c.2383T>C (p.Tyr795His) c.1945T>C (p.Tyr649His) c.2245T>C (p.Tyr749His) n.2696T>C | |
| 9 | g.104826977A>T | CA374321588 | ABCA1 | c.2308T>A (p.Tyr770Asn) n.481T>A c.2128T>A (p.Tyr710Asn) c.2383T>A (p.Tyr795Asn) c.1945T>A (p.Tyr649Asn) c.2245T>A (p.Tyr749Asn) n.2696T>A | |
| 9 | g.104826978G>A | CA466507760 | ABCA1 | c.2307C>T (p.Asp769=) n.480C>T c.2127C>T (p.Asp709=) c.2382C>T (p.Asp794=) c.1944C>T (p.Asp648=) c.2244C>T (p.Asp748=) n.2695C>T | |
| 9 | g.104826978G>C | CA374321589 | ABCA1 | c.2307C>G (p.Asp769Glu) n.480C>G c.2127C>G (p.Asp709Glu) c.2382C>G (p.Asp794Glu) c.1944C>G (p.Asp648Glu) c.2244C>G (p.Asp748Glu) n.2695C>G | |
| 9 | g.104826978G= | CA1869916597 | ABCA1 | c.2307C= (p.Asp769=) n.480C= c.2127C= (p.Asp709=) c.2382C= (p.Asp794=) c.1944C= (p.Asp648=) c.2244C= (p.Asp748=) n.2695C= | |
| 9 | g.104826978G>T | CA5168769 | ABCA1 | c.2307C>A (p.Asp769Glu) n.480C>A c.2127C>A (p.Asp709Glu) c.2382C>A (p.Asp794Glu) c.1944C>A (p.Asp648Glu) c.2244C>A (p.Asp748Glu) n.2695C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826979T>A | CA374321591 | ABCA1 | c.2306A>T (p.Asp769Val) n.479A>T c.2126A>T (p.Asp709Val) c.2381A>T (p.Asp794Val) c.1943A>T (p.Asp648Val) c.2243A>T (p.Asp748Val) n.2694A>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104826979T>C | CA374321592 | ABCA1 | c.2306A>G (p.Asp769Gly) n.479A>G c.2126A>G (p.Asp709Gly) c.2381A>G (p.Asp794Gly) c.1943A>G (p.Asp648Gly) c.2243A>G (p.Asp748Gly) n.2694A>G | |
| 9 | g.104826979T>G | CA374321590 | ABCA1 | c.2306A>C (p.Asp769Ala) n.479A>C c.2126A>C (p.Asp709Ala) c.2381A>C (p.Asp794Ala) c.1943A>C (p.Asp648Ala) c.2243A>C (p.Asp748Ala) n.2694A>C | |
| 9 | g.104826979T= | CA1869916599 | ABCA1 | c.2306A= (p.Asp769=) n.479A= c.2126A= (p.Asp709=) c.2381A= (p.Asp794=) c.1943A= (p.Asp648=) c.2243A= (p.Asp748=) n.2694A= | |
| 9 | g.104826980C>A | CA374321593 | ABCA1 | c.2305G>T (p.Asp769Tyr) n.478G>T c.2125G>T (p.Asp709Tyr) c.2380G>T (p.Asp794Tyr) c.1942G>T (p.Asp648Tyr) c.2242G>T (p.Asp748Tyr) n.2693G>T | |
| 9 | g.104826980C= | CA1869916603 | ABCA1 | c.2305G= (p.Asp769=) n.478G= c.2125G= (p.Asp709=) c.2380G= (p.Asp794=) c.1942G= (p.Asp648=) c.2242G= (p.Asp748=) n.2693G= | |
| 9 | g.104826980C>G | CA374321594 | ABCA1 | c.2305G>C (p.Asp769His) n.478G>C c.2125G>C (p.Asp709His) c.2380G>C (p.Asp794His) c.1942G>C (p.Asp648His) c.2242G>C (p.Asp748His) n.2693G>C | |
| 9 | g.104826980C>T | CA374321595 | ABCA1 | c.2305G>A (p.Asp769Asn) n.478G>A c.2125G>A (p.Asp709Asn) c.2380G>A (p.Asp794Asn) c.1942G>A (p.Asp648Asn) c.2242G>A (p.Asp748Asn) n.2693G>A | dbSNP gnomAD v4 |
| 9 | g.104826981C>A | CA374321596 | ABCA1 | c.2304G>T (p.Gln768His) n.477G>T c.2124G>T (p.Gln708His) c.2379G>T (p.Gln793His) c.1941G>T (p.Gln647His) c.2241G>T (p.Gln747His) n.2692G>T | |
| 9 | g.104826981C>G | CA374321597 | ABCA1 | c.2304G>C (p.Gln768His) n.477G>C c.2124G>C (p.Gln708His) c.2379G>C (p.Gln793His) c.1941G>C (p.Gln647His) c.2241G>C (p.Gln747His) n.2692G>C | |
| 9 | g.104826981C>T | CA466507773 | ABCA1 | c.2304G>A (p.Gln768=) n.477G>A c.2124G>A (p.Gln708=) c.2379G>A (p.Gln793=) c.1941G>A (p.Gln647=) c.2241G>A (p.Gln747=) n.2692G>A | gnomAD v4 |
| 9 | g.104826982T>A | CA374321600 | ABCA1 | c.2303A>T (p.Gln768Leu) n.476A>T c.2123A>T (p.Gln708Leu) c.2378A>T (p.Gln793Leu) c.1940A>T (p.Gln647Leu) c.2240A>T (p.Gln747Leu) n.2691A>T | |
| 9 | g.104826982T>C | CA374321599 | ABCA1 | c.2303A>G (p.Gln768Arg) n.476A>G c.2123A>G (p.Gln708Arg) c.2378A>G (p.Gln793Arg) c.1940A>G (p.Gln647Arg) c.2240A>G (p.Gln747Arg) n.2691A>G | |
| 9 | g.104826982T>G | CA374321598 | ABCA1 | c.2303A>C (p.Gln768Pro) n.476A>C c.2123A>C (p.Gln708Pro) c.2378A>C (p.Gln793Pro) c.1940A>C (p.Gln647Pro) c.2240A>C (p.Gln747Pro) n.2691A>C | |
| 9 | g.104826983G>A | CA374321601 | ABCA1 | c.2302C>T (p.Gln768Ter) n.475C>T c.2122C>T (p.Gln708Ter) c.2377C>T (p.Gln793Ter) c.1939C>T (p.Gln647Ter) c.2239C>T (p.Gln747Ter) n.2690C>T | |
| 9 | g.104826983G>C | CA374321602 | ABCA1 | c.2302C>G (p.Gln768Glu) n.475C>G c.2122C>G (p.Gln708Glu) c.2377C>G (p.Gln793Glu) c.1939C>G (p.Gln647Glu) c.2239C>G (p.Gln747Glu) n.2690C>G | |
| 9 | g.104826983G>T | CA374321603 | ABCA1 | c.2302C>A (p.Gln768Lys) n.475C>A c.2122C>A (p.Gln708Lys) c.2377C>A (p.Gln793Lys) c.1939C>A (p.Gln647Lys) c.2239C>A (p.Gln747Lys) n.2690C>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104826984C>A | CA5168770 | ABCA1 | c.2301G>T (p.Trp767Cys) n.474G>T c.2121G>T (p.Trp707Cys) c.2376G>T (p.Trp792Cys) c.1938G>T (p.Trp646Cys) c.2238G>T (p.Trp746Cys) n.2689G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104826984C= | CA1869916607 | ABCA1 | c.2301G= (p.Trp767=) n.474G= c.2121G= (p.Trp707=) c.2376G= (p.Trp792=) c.1938G= (p.Trp646=) c.2238G= (p.Trp746=) n.2689G= | |
| 9 | g.104826984C>G | CA374321604 | ABCA1 | c.2301G>C (p.Trp767Cys) n.474G>C c.2121G>C (p.Trp707Cys) c.2376G>C (p.Trp792Cys) c.1938G>C (p.Trp646Cys) c.2238G>C (p.Trp746Cys) n.2689G>C | |
| 9 | g.104826984C>T | CA374321605 | ABCA1 | c.2301G>A (p.Trp767Ter) n.474G>A c.2121G>A (p.Trp707Ter) c.2376G>A (p.Trp792Ter) c.1938G>A (p.Trp646Ter) c.2238G>A (p.Trp746Ter) n.2689G>A | |
| 9 | g.104826985C>A | CA374321608 | ABCA1 | c.2300G>T (p.Trp767Leu) n.473G>T c.2120G>T (p.Trp707Leu) c.2375G>T (p.Trp792Leu) c.1937G>T (p.Trp646Leu) c.2237G>T (p.Trp746Leu) n.2688G>T | |
| 9 | g.104826985C>G | CA374321606 | ABCA1 | c.2300G>C (p.Trp767Ser) n.473G>C c.2120G>C (p.Trp707Ser) c.2375G>C (p.Trp792Ser) c.1937G>C (p.Trp646Ser) c.2237G>C (p.Trp746Ser) n.2688G>C | |
| 9 | g.104826985C>T | CA374321607 | ABCA1 | c.2300G>A (p.Trp767Ter) n.473G>A c.2120G>A (p.Trp707Ter) c.2375G>A (p.Trp792Ter) c.1937G>A (p.Trp646Ter) c.2237G>A (p.Trp746Ter) n.2688G>A | |
| 9 | g.104826986A>C | CA374321609 | ABCA1 | c.2299T>G (p.Trp767Gly) n.472T>G c.2119T>G (p.Trp707Gly) c.2374T>G (p.Trp792Gly) c.1936T>G (p.Trp646Gly) c.2236T>G (p.Trp746Gly) n.2687T>G | |
| 9 | g.104826986A>G | CA374321610 | ABCA1 | c.2299T>C (p.Trp767Arg) n.472T>C c.2119T>C (p.Trp707Arg) c.2374T>C (p.Trp792Arg) c.1936T>C (p.Trp646Arg) c.2236T>C (p.Trp746Arg) n.2687T>C | |
| 9 | g.104826986A>T | CA374321611 | ABCA1 | c.2299T>A (p.Trp767Arg) n.472T>A c.2119T>A (p.Trp707Arg) c.2374T>A (p.Trp792Arg) c.1936T>A (p.Trp646Arg) c.2236T>A (p.Trp746Arg) n.2687T>A | |
| 9 | g.104826987T>A | CA466507796 | ABCA1 | c.2298A>T (p.Ala766=) n.471A>T c.2118A>T (p.Ala706=) c.2373A>T (p.Ala791=) c.1935A>T (p.Ala645=) c.2235A>T (p.Ala745=) n.2686A>T | |
| 9 | g.104826987T>C | CA466507797 | ABCA1 | c.2298A>G (p.Ala766=) n.471A>G c.2118A>G (p.Ala706=) c.2373A>G (p.Ala791=) c.1935A>G (p.Ala645=) c.2235A>G (p.Ala745=) n.2686A>G | |
| 9 | g.104826987T>G | CA5168771 | ABCA1 | c.2298A>C (p.Ala766=) n.471A>C c.2118A>C (p.Ala706=) c.2373A>C (p.Ala791=) c.1935A>C (p.Ala645=) c.2235A>C (p.Ala745=) n.2686A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104826987T= | CA1869916613 | ABCA1 | c.2298A= (p.Ala766=) n.471A= c.2118A= (p.Ala706=) c.2373A= (p.Ala791=) c.1935A= (p.Ala645=) c.2235A= (p.Ala745=) n.2686A= |