| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 9 | g.104825810C>A | CA374321346 | ABCA1 | c.2415G>T (p.Gln805His) n.588G>T c.2235G>T (p.Gln745His) c.2490G>T (p.Gln830His) c.2052G>T (p.Gln684His) c.2352G>T (p.Gln784His) n.2803G>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825810C= | CA1869915127 | ABCA1 | c.2415G= (p.Gln805=) n.588G= c.2235G= (p.Gln745=) c.2490G= (p.Gln830=) c.2052G= (p.Gln684=) c.2352G= (p.Gln784=) n.2803G= | |
| 9 | g.104825810C>G | CA374321344 | ABCA1 | c.2415G>C (p.Gln805His) n.588G>C c.2235G>C (p.Gln745His) c.2490G>C (p.Gln830His) c.2052G>C (p.Gln684His) c.2352G>C (p.Gln784His) n.2803G>C | |
| 9 | g.104825810C>T | CA466506929 | ABCA1 | c.2415G>A (p.Gln805=) n.588G>A c.2235G>A (p.Gln745=) c.2490G>A (p.Gln830=) c.2052G>A (p.Gln684=) c.2352G>A (p.Gln784=) n.2803G>A | gnomAD v4 |
| 9 | g.104825811T>A | CA374321348 | ABCA1 | c.2414A>T (p.Gln805Leu) n.587A>T c.2234A>T (p.Gln745Leu) c.2489A>T (p.Gln830Leu) c.2051A>T (p.Gln684Leu) c.2351A>T (p.Gln784Leu) n.2802A>T | |
| 9 | g.104825811T>C | CA374321349 | ABCA1 | c.2414A>G (p.Gln805Arg) n.587A>G c.2234A>G (p.Gln745Arg) c.2489A>G (p.Gln830Arg) c.2051A>G (p.Gln684Arg) c.2351A>G (p.Gln784Arg) n.2802A>G | |
| 9 | g.104825811T>G | CA5168736 | ABCA1 | c.2414A>C (p.Gln805Pro) n.587A>C c.2234A>C (p.Gln745Pro) c.2489A>C (p.Gln830Pro) c.2051A>C (p.Gln684Pro) c.2351A>C (p.Gln784Pro) n.2802A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825811T= | CA1869915129 | ABCA1 | c.2414A= (p.Gln805=) n.587A= c.2234A= (p.Gln745=) c.2489A= (p.Gln830=) c.2051A= (p.Gln684=) c.2351A= (p.Gln784=) n.2802A= | |
| 9 | g.104825812G>A | CA374321352 | ABCA1 | c.2413C>T (p.Gln805Ter) n.586C>T c.2233C>T (p.Gln745Ter) c.2488C>T (p.Gln830Ter) c.2050C>T (p.Gln684Ter) c.2350C>T (p.Gln784Ter) n.2801C>T | |
| 9 | g.104825812G>C | CA374321354 | ABCA1 | c.2413C>G (p.Gln805Glu) n.586C>G c.2233C>G (p.Gln745Glu) c.2488C>G (p.Gln830Glu) c.2050C>G (p.Gln684Glu) c.2350C>G (p.Gln784Glu) n.2801C>G | |
| 9 | g.104825812G>T | CA374321355 | ABCA1 | c.2413C>A (p.Gln805Lys) n.586C>A c.2233C>A (p.Gln745Lys) c.2488C>A (p.Gln830Lys) c.2050C>A (p.Gln684Lys) c.2350C>A (p.Gln784Lys) n.2801C>A | |
| 9 | g.104825813C>A | CA466506930 | ABCA1 | c.2412G>T (p.Val804=) n.585G>T c.2232G>T (p.Val744=) c.2487G>T (p.Val829=) c.2049G>T (p.Val683=) c.2349G>T (p.Val783=) n.2800G>T | |
| 9 | g.104825813C= | CA1869915133 | ABCA1 | c.2412G= (p.Val804=) n.585G= c.2232G= (p.Val744=) c.2487G= (p.Val829=) c.2049G= (p.Val683=) c.2349G= (p.Val783=) n.2800G= | |
| 9 | g.104825813C>G | CA466506931 | ABCA1 | c.2412G>C (p.Val804=) n.585G>C c.2232G>C (p.Val744=) c.2487G>C (p.Val829=) c.2049G>C (p.Val683=) c.2349G>C (p.Val783=) n.2800G>C | |
| 9 | g.104825813C>T | CA466506932 | ABCA1 | c.2412G>A (p.Val804=) n.585G>A c.2232G>A (p.Val744=) c.2487G>A (p.Val829=) c.2049G>A (p.Val683=) c.2349G>A (p.Val783=) n.2800G>A | dbSNP |
| 9 | g.104825814A>C | CA374321356 | ABCA1 | c.2411T>G (p.Val804Gly) n.584T>G c.2231T>G (p.Val744Gly) c.2486T>G (p.Val829Gly) c.2048T>G (p.Val683Gly) c.2348T>G (p.Val783Gly) n.2799T>G | |
| 9 | g.104825814A>G | CA374321357 | ABCA1 | c.2411T>C (p.Val804Ala) n.584T>C c.2231T>C (p.Val744Ala) c.2486T>C (p.Val829Ala) c.2048T>C (p.Val683Ala) c.2348T>C (p.Val783Ala) n.2799T>C | |
| 9 | g.104825814A>T | CA374321358 | ABCA1 | c.2411T>A (p.Val804Glu) n.584T>A c.2231T>A (p.Val744Glu) c.2486T>A (p.Val829Glu) c.2048T>A (p.Val683Glu) c.2348T>A (p.Val783Glu) n.2799T>A | |
| 9 | g.104825815C>A | CA374321359 | ABCA1 | c.2410G>T (p.Val804Leu) n.583G>T c.2230G>T (p.Val744Leu) c.2485G>T (p.Val829Leu) c.2047G>T (p.Val683Leu) c.2347G>T (p.Val783Leu) n.2798G>T | gnomAD v4 |
| 9 | g.104825815C= | CA1869915135 | ABCA1 | c.2410G= (p.Val804=) n.583G= c.2230G= (p.Val744=) c.2485G= (p.Val829=) c.2047G= (p.Val683=) c.2347G= (p.Val783=) n.2798G= | |
| 9 | g.104825815C>G | CA374321360 | ABCA1 | c.2410G>C (p.Val804Leu) n.583G>C c.2230G>C (p.Val744Leu) c.2485G>C (p.Val829Leu) c.2047G>C (p.Val683Leu) c.2347G>C (p.Val783Leu) n.2798G>C | |
| 9 | g.104825815C>T | CA5168737 | ABCA1 | c.2410G>A (p.Val804Met) n.583G>A c.2230G>A (p.Val744Met) c.2485G>A (p.Val829Met) c.2047G>A (p.Val683Met) c.2347G>A (p.Val783Met) n.2798G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825816T>A | CA466506933 | ABCA1 | c.2409A>T (p.Gly803=) n.582A>T c.2229A>T (p.Gly743=) c.2484A>T (p.Gly828=) c.2046A>T (p.Gly682=) c.2346A>T (p.Gly782=) n.2797A>T | |
| 9 | g.104825816T>C | CA466506934 | ABCA1 | c.2409A>G (p.Gly803=) n.582A>G c.2229A>G (p.Gly743=) c.2484A>G (p.Gly828=) c.2046A>G (p.Gly682=) c.2346A>G (p.Gly782=) n.2797A>G | |
| 9 | g.104825816T>G | CA466506935 | ABCA1 | c.2409A>C (p.Gly803=) n.582A>C c.2229A>C (p.Gly743=) c.2484A>C (p.Gly828=) c.2046A>C (p.Gly682=) c.2346A>C (p.Gly782=) n.2797A>C | ClinVar dbSNP gnomAD v4 |
| 9 | g.104825816T= | CA1869915138 | ABCA1 | c.2409A= (p.Gly803=) n.582A= c.2229A= (p.Gly743=) c.2484A= (p.Gly828=) c.2046A= (p.Gly682=) c.2346A= (p.Gly782=) n.2797A= | |
| 9 | g.104825817C>A | CA374321362 | ABCA1 | c.2408G>T (p.Gly803Val) n.581G>T c.2228G>T (p.Gly743Val) c.2483G>T (p.Gly828Val) c.2045G>T (p.Gly682Val) c.2345G>T (p.Gly782Val) n.2796G>T | |
| 9 | g.104825817C>G | CA374321363 | ABCA1 | c.2408G>C (p.Gly803Ala) n.581G>C c.2228G>C (p.Gly743Ala) c.2483G>C (p.Gly828Ala) c.2045G>C (p.Gly682Ala) c.2345G>C (p.Gly782Ala) n.2796G>C | |
| 9 | g.104825817C>T | CA374321361 | ABCA1 | c.2408G>A (p.Gly803Glu) n.581G>A c.2228G>A (p.Gly743Glu) c.2483G>A (p.Gly828Glu) c.2045G>A (p.Gly682Glu) c.2345G>A (p.Gly782Glu) n.2796G>A | |
| 9 | g.104825818C>A | CA374321364 | ABCA1 | c.2407G>T (p.Gly803Ter) n.580G>T c.2227G>T (p.Gly743Ter) c.2482G>T (p.Gly828Ter) c.2044G>T (p.Gly682Ter) c.2344G>T (p.Gly782Ter) n.2795G>T | |
| 9 | g.104825818C>G | CA374321365 | ABCA1 | c.2407G>C (p.Gly803Arg) n.580G>C c.2227G>C (p.Gly743Arg) c.2482G>C (p.Gly828Arg) c.2044G>C (p.Gly682Arg) c.2344G>C (p.Gly782Arg) n.2795G>C | |
| 9 | g.104825818C>T | CA374321366 | ABCA1 | c.2407G>A (p.Gly803Arg) n.580G>A c.2227G>A (p.Gly743Arg) c.2482G>A (p.Gly828Arg) c.2044G>A (p.Gly682Arg) c.2344G>A (p.Gly782Arg) n.2795G>A | |
| 9 | g.104825819A>C | CA374321367 | ABCA1 | c.2406T>G (p.Ile802Met) n.579T>G c.2226T>G (p.Ile742Met) c.2481T>G (p.Ile827Met) c.2043T>G (p.Ile681Met) c.2343T>G (p.Ile781Met) n.2794T>G | |
| 9 | g.104825819A>G | CA466506937 | ABCA1 | c.2406T>C (p.Ile802=) n.579T>C c.2226T>C (p.Ile742=) c.2481T>C (p.Ile827=) c.2043T>C (p.Ile681=) c.2343T>C (p.Ile781=) n.2794T>C | |
| 9 | g.104825819A>T | CA466506936 | ABCA1 | c.2406T>A (p.Ile802=) n.579T>A c.2226T>A (p.Ile742=) c.2481T>A (p.Ile827=) c.2043T>A (p.Ile681=) c.2343T>A (p.Ile781=) n.2794T>A | |
| 9 | g.104825820A= | CA1869915139 | ABCA1 | c.2405T= (p.Ile802=) n.578T= c.2225T= (p.Ile742=) c.2480T= (p.Ile827=) c.2042T= (p.Ile681=) c.2342T= (p.Ile781=) n.2793T= | |
| 9 | g.104825820A>C | CA374321368 | ABCA1 | c.2405T>G (p.Ile802Ser) n.578T>G c.2225T>G (p.Ile742Ser) c.2480T>G (p.Ile827Ser) c.2042T>G (p.Ile681Ser) c.2342T>G (p.Ile781Ser) n.2793T>G | |
| 9 | g.104825820A>G | CA374321369 | ABCA1 | c.2405T>C (p.Ile802Thr) n.578T>C c.2225T>C (p.Ile742Thr) c.2480T>C (p.Ile827Thr) c.2042T>C (p.Ile681Thr) c.2342T>C (p.Ile781Thr) n.2793T>C | dbSNP gnomAD v4 |
| 9 | g.104825820A>T | CA374321370 | ABCA1 | c.2405T>A (p.Ile802Asn) n.578T>A c.2225T>A (p.Ile742Asn) c.2480T>A (p.Ile827Asn) c.2042T>A (p.Ile681Asn) c.2342T>A (p.Ile781Asn) n.2793T>A | |
| 9 | g.104825821T>A | CA5168739 | ABCA1 | c.2404A>T (p.Ile802Phe) n.577A>T c.2224A>T (p.Ile742Phe) c.2479A>T (p.Ile827Phe) c.2041A>T (p.Ile681Phe) c.2341A>T (p.Ile781Phe) n.2792A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825821T>C | CA5168738 | ABCA1 | c.2404A>G (p.Ile802Val) n.577A>G c.2224A>G (p.Ile742Val) c.2479A>G (p.Ile827Val) c.2041A>G (p.Ile681Val) c.2341A>G (p.Ile781Val) n.2792A>G | dbSNP ExAC |
| 9 | g.104825821T>G | CA374321371 | ABCA1 | c.2404A>C (p.Ile802Leu) n.577A>C c.2224A>C (p.Ile742Leu) c.2479A>C (p.Ile827Leu) c.2041A>C (p.Ile681Leu) c.2341A>C (p.Ile781Leu) n.2792A>C | |
| 9 | g.104825821T= | CA1869915148 | ABCA1 | c.2404A= (p.Ile802=) n.577A= c.2224A= (p.Ile742=) c.2479A= (p.Ile827=) c.2041A= (p.Ile681=) c.2341A= (p.Ile781=) n.2792A= | |
| 9 | g.104825822G>A | CA466506940 | ABCA1 | c.2403C>T (p.Gly801=) n.576C>T c.2223C>T (p.Gly741=) c.2478C>T (p.Gly826=) c.2040C>T (p.Gly680=) c.2340C>T (p.Gly780=) n.2791C>T | |
| 9 | g.104825822G>C | CA466506939 | ABCA1 | c.2403C>G (p.Gly801=) n.576C>G c.2223C>G (p.Gly741=) c.2478C>G (p.Gly826=) c.2040C>G (p.Gly680=) c.2340C>G (p.Gly780=) n.2791C>G | |
| 9 | g.104825822G>T | CA466506938 | ABCA1 | c.2403C>A (p.Gly801=) n.576C>A c.2223C>A (p.Gly741=) c.2478C>A (p.Gly826=) c.2040C>A (p.Gly680=) c.2340C>A (p.Gly780=) n.2791C>A | |
| 9 | g.104825823C>A | CA374321372 | ABCA1 | c.2402G>T (p.Gly801Val) n.575G>T c.2222G>T (p.Gly741Val) c.2477G>T (p.Gly826Val) c.2039G>T (p.Gly680Val) c.2339G>T (p.Gly780Val) n.2790G>T | |
| 9 | g.104825823C>G | CA374321373 | ABCA1 | c.2402G>C (p.Gly801Ala) n.575G>C c.2222G>C (p.Gly741Ala) c.2477G>C (p.Gly826Ala) c.2039G>C (p.Gly680Ala) c.2339G>C (p.Gly780Ala) n.2790G>C | |
| 9 | g.104825823C>T | CA374321374 | ABCA1 | c.2402G>A (p.Gly801Asp) n.575G>A c.2222G>A (p.Gly741Asp) c.2477G>A (p.Gly826Asp) c.2039G>A (p.Gly680Asp) c.2339G>A (p.Gly780Asp) n.2790G>A | ClinVar dbSNP |
| 9 | g.104825824C>A | CA374321377 | ABCA1 | c.2401G>T (p.Gly801Cys) n.574G>T c.2221G>T (p.Gly741Cys) c.2476G>T (p.Gly826Cys) c.2038G>T (p.Gly680Cys) c.2338G>T (p.Gly780Cys) n.2789G>T | |
| 9 | g.104825824C>G | CA374321376 | ABCA1 | c.2401G>C (p.Gly801Arg) n.574G>C c.2221G>C (p.Gly741Arg) c.2476G>C (p.Gly826Arg) c.2038G>C (p.Gly680Arg) c.2338G>C (p.Gly780Arg) n.2789G>C | |
| 9 | g.104825824C>T | CA374321375 | ABCA1 | c.2401G>A (p.Gly801Ser) n.574G>A c.2221G>A (p.Gly741Ser) c.2476G>A (p.Gly826Ser) c.2038G>A (p.Gly680Ser) c.2338G>A (p.Gly780Ser) n.2789G>A | |
| 9 | g.104825825C>A | CA374321378 | ABCA1 | c.2400G>T (p.Gln800His) n.573G>T c.2220G>T (p.Gln740His) c.2475G>T (p.Gln825His) c.2037G>T (p.Gln679His) c.2337G>T (p.Gln779His) n.2788G>T | |
| 9 | g.104825825C= | CA1869915150 | ABCA1 | c.2400G= (p.Gln800=) n.573G= c.2220G= (p.Gln740=) c.2475G= (p.Gln825=) c.2037G= (p.Gln679=) c.2337G= (p.Gln779=) n.2788G= | |
| 9 | g.104825825C>G | CA374321379 | ABCA1 | c.2400G>C (p.Gln800His) n.573G>C c.2220G>C (p.Gln740His) c.2475G>C (p.Gln825His) c.2037G>C (p.Gln679His) c.2337G>C (p.Gln779His) n.2788G>C | |
| 9 | g.104825825C>T | CA5168740 | ABCA1 | c.2400G>A (p.Gln800=) n.573G>A c.2220G>A (p.Gln740=) c.2475G>A (p.Gln825=) c.2037G>A (p.Gln679=) c.2337G>A (p.Gln779=) n.2788G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825826T>A | CA374321380 | ABCA1 | c.2399A>T (p.Gln800Leu) n.572A>T c.2219A>T (p.Gln740Leu) c.2474A>T (p.Gln825Leu) c.2036A>T (p.Gln679Leu) c.2336A>T (p.Gln779Leu) n.2787A>T | |
| 9 | g.104825826T>C | CA374321381 | ABCA1 | c.2399A>G (p.Gln800Arg) n.572A>G c.2219A>G (p.Gln740Arg) c.2474A>G (p.Gln825Arg) c.2036A>G (p.Gln679Arg) c.2336A>G (p.Gln779Arg) n.2787A>G | |
| 9 | g.104825826T>G | CA374321382 | ABCA1 | c.2399A>C (p.Gln800Pro) n.572A>C c.2219A>C (p.Gln740Pro) c.2474A>C (p.Gln825Pro) c.2036A>C (p.Gln679Pro) c.2336A>C (p.Gln779Pro) n.2787A>C | |
| 9 | g.104825827G>A | CA374321383 | ABCA1 | c.2398C>T (p.Gln800Ter) n.571C>T c.2218C>T (p.Gln740Ter) c.2473C>T (p.Gln825Ter) c.2035C>T (p.Gln679Ter) c.2335C>T (p.Gln779Ter) n.2786C>T | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825827G>C | CA374321384 | ABCA1 | c.2398C>G (p.Gln800Glu) n.571C>G c.2218C>G (p.Gln740Glu) c.2473C>G (p.Gln825Glu) c.2035C>G (p.Gln679Glu) c.2335C>G (p.Gln779Glu) n.2786C>G | |
| 9 | g.104825827G= | CA1869915153 | ABCA1 | c.2398C= (p.Gln800=) n.571C= c.2218C= (p.Gln740=) c.2473C= (p.Gln825=) c.2035C= (p.Gln679=) c.2335C= (p.Gln779=) n.2786C= | |
| 9 | g.104825827G>T | CA374321385 | ABCA1 | c.2398C>A (p.Gln800Lys) n.571C>A c.2218C>A (p.Gln740Lys) c.2473C>A (p.Gln825Lys) c.2035C>A (p.Gln679Lys) c.2335C>A (p.Gln779Lys) n.2786C>A | |
| 9 | g.104825828C>A | CA374321386 | ABCA1 | c.2397G>T (p.Glu799Asp) n.570G>T c.2217G>T (p.Glu739Asp) c.2472G>T (p.Glu824Asp) c.2034G>T (p.Glu678Asp) c.2334G>T (p.Glu778Asp) n.2785G>T | |
| 9 | g.104825828C>G | CA374321387 | ABCA1 | c.2397G>C (p.Glu799Asp) n.570G>C c.2217G>C (p.Glu739Asp) c.2472G>C (p.Glu824Asp) c.2034G>C (p.Glu678Asp) c.2334G>C (p.Glu778Asp) n.2785G>C | |
| 9 | g.104825828C>T | CA466506941 | ABCA1 | c.2397G>A (p.Glu799=) n.570G>A c.2217G>A (p.Glu739=) c.2472G>A (p.Glu824=) c.2034G>A (p.Glu678=) c.2334G>A (p.Glu778=) n.2785G>A | |
| 9 | g.104825829T>A | CA374321388 | ABCA1 | c.2396A>T (p.Glu799Val) n.569A>T c.2216A>T (p.Glu739Val) c.2471A>T (p.Glu824Val) c.2033A>T (p.Glu678Val) c.2333A>T (p.Glu778Val) n.2784A>T | |
| 9 | g.104825829T>C | CA374321389 | ABCA1 | c.2396A>G (p.Glu799Gly) n.569A>G c.2216A>G (p.Glu739Gly) c.2471A>G (p.Glu824Gly) c.2033A>G (p.Glu678Gly) c.2333A>G (p.Glu778Gly) n.2784A>G | |
| 9 | g.104825829T>G | CA374321390 | ABCA1 | c.2396A>C (p.Glu799Ala) n.569A>C c.2216A>C (p.Glu739Ala) c.2471A>C (p.Glu824Ala) c.2033A>C (p.Glu678Ala) c.2333A>C (p.Glu778Ala) n.2784A>C | |
| 9 | g.104825830C>A | CA374321392 | ABCA1 | c.2395G>T (p.Glu799Ter) n.568G>T c.2215G>T (p.Glu739Ter) c.2470G>T (p.Glu824Ter) c.2032G>T (p.Glu678Ter) c.2332G>T (p.Glu778Ter) n.2783G>T | |
| 9 | g.104825830C>G | CA374321393 | ABCA1 | c.2395G>C (p.Glu799Gln) n.568G>C c.2215G>C (p.Glu739Gln) c.2470G>C (p.Glu824Gln) c.2032G>C (p.Glu678Gln) c.2332G>C (p.Glu778Gln) n.2783G>C | |
| 9 | g.104825830C>T | CA374321391 | ABCA1 | c.2395G>A (p.Glu799Lys) n.568G>A c.2215G>A (p.Glu739Lys) c.2470G>A (p.Glu824Lys) c.2032G>A (p.Glu678Lys) c.2332G>A (p.Glu778Lys) n.2783G>A | gnomAD v4 |
| 9 | g.104825831C>A | CA374321394 | ABCA1 | c.2394G>T (p.Glu798Asp) n.567G>T c.2214G>T (p.Glu738Asp) c.2469G>T (p.Glu823Asp) c.2031G>T (p.Glu677Asp) c.2331G>T (p.Glu777Asp) n.2782G>T | |
| 9 | g.104825831C>G | CA374321395 | ABCA1 | c.2394G>C (p.Glu798Asp) n.567G>C c.2214G>C (p.Glu738Asp) c.2469G>C (p.Glu823Asp) c.2031G>C (p.Glu677Asp) c.2331G>C (p.Glu777Asp) n.2782G>C | |
| 9 | g.104825831C>T | CA466506942 | ABCA1 | c.2394G>A (p.Glu798=) n.567G>A c.2214G>A (p.Glu738=) c.2469G>A (p.Glu823=) c.2031G>A (p.Glu677=) c.2331G>A (p.Glu777=) n.2782G>A | |
| 9 | g.104825832T>A | CA374321396 | ABCA1 | c.2393A>T (p.Glu798Val) n.566A>T c.2213A>T (p.Glu738Val) c.2468A>T (p.Glu823Val) c.2030A>T (p.Glu677Val) c.2330A>T (p.Glu777Val) n.2781A>T | |
| 9 | g.104825832T>C | CA374321397 | ABCA1 | c.2393A>G (p.Glu798Gly) n.566A>G c.2213A>G (p.Glu738Gly) c.2468A>G (p.Glu823Gly) c.2030A>G (p.Glu677Gly) c.2330A>G (p.Glu777Gly) n.2781A>G | gnomAD v4 |
| 9 | g.104825832T>G | CA374321398 | ABCA1 | c.2393A>C (p.Glu798Ala) n.566A>C c.2213A>C (p.Glu738Ala) c.2468A>C (p.Glu823Ala) c.2030A>C (p.Glu677Ala) c.2330A>C (p.Glu777Ala) n.2781A>C | |
| 9 | g.104825833C>A | CA374321399 | ABCA1 | c.2392G>T (p.Glu798Ter) n.565G>T c.2212G>T (p.Glu738Ter) c.2467G>T (p.Glu823Ter) c.2029G>T (p.Glu677Ter) c.2329G>T (p.Glu777Ter) n.2780G>T | |
| 9 | g.104825833C>G | CA374321400 | ABCA1 | c.2392G>C (p.Glu798Gln) n.565G>C c.2212G>C (p.Glu738Gln) c.2467G>C (p.Glu823Gln) c.2029G>C (p.Glu677Gln) c.2329G>C (p.Glu777Gln) n.2780G>C | |
| 9 | g.104825833C>T | CA374321401 | ABCA1 | c.2392G>A (p.Glu798Lys) n.565G>A c.2212G>A (p.Glu738Lys) c.2467G>A (p.Glu823Lys) c.2029G>A (p.Glu677Lys) c.2329G>A (p.Glu777Lys) n.2780G>A | |
| 9 | g.104825833_104825834delinsCA | CA1869915158 | ABCA1 | c.2391_2392delinsTG (p.Phe797=) n.564_565delinsTG c.2211_2212delinsTG (p.Phe737=) c.2466_2467delinsTG (p.Phe822=) c.2028_2029delinsTG (p.Phe676=) c.2328_2329delinsTG (p.Phe776=) n.2779_2780delinsTG | |
| 9 | g.104825834A>C | CA374321402 | ABCA1 | c.2391T>G (p.Phe797Leu) n.564T>G c.2211T>G (p.Phe737Leu) c.2466T>G (p.Phe822Leu) c.2028T>G (p.Phe676Leu) c.2328T>G (p.Phe776Leu) n.2779T>G | |
| 9 | g.104825834A>G | CA466506943 | ABCA1 | c.2391T>C (p.Phe797=) n.564T>C c.2211T>C (p.Phe737=) c.2466T>C (p.Phe822=) c.2028T>C (p.Phe676=) c.2328T>C (p.Phe776=) n.2779T>C | |
| 9 | g.104825834A>T | CA374321403 | ABCA1 | c.2391T>A (p.Phe797Leu) n.564T>A c.2211T>A (p.Phe737Leu) c.2466T>A (p.Phe822Leu) c.2028T>A (p.Phe676Leu) c.2328T>A (p.Phe776Leu) n.2779T>A | |
| 9 | g.104825838dup | CA858046870 | ABCA1 | c.2391dup (p.Glu798Ter) n.564dup c.2211dup (p.Glu738Ter) c.2466dup (p.Glu823Ter) c.2028dup (p.Glu677Ter) c.2328dup (p.Glu777Ter) n.2779dup | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825838del | CA1869915163 | ABCA1 | c.2391del (p.Phe797LeufsTer?) n.564del c.2211del (p.Phe737LeufsTer?) c.2466del (p.Phe822LeufsTer?) c.2028del (p.Phe676LeufsTer?) c.2328del (p.Phe776LeufsTer?) n.2779del | dbSNP |
| 9 | g.104825835A>C | CA374321404 | ABCA1 | c.2390T>G (p.Phe797Cys) n.563T>G c.2210T>G (p.Phe737Cys) c.2465T>G (p.Phe822Cys) c.2027T>G (p.Phe676Cys) c.2327T>G (p.Phe776Cys) n.2778T>G | |
| 9 | g.104825835A>G | CA374321405 | ABCA1 | c.2390T>C (p.Phe797Ser) n.563T>C c.2210T>C (p.Phe737Ser) c.2465T>C (p.Phe822Ser) c.2027T>C (p.Phe676Ser) c.2327T>C (p.Phe776Ser) n.2778T>C | |
| 9 | g.104825835A>T | CA374321406 | ABCA1 | c.2390T>A (p.Phe797Tyr) n.563T>A c.2210T>A (p.Phe737Tyr) c.2465T>A (p.Phe822Tyr) c.2027T>A (p.Phe676Tyr) c.2327T>A (p.Phe776Tyr) n.2778T>A | |
| 9 | g.104825836A>C | CA374321409 | ABCA1 | c.2389T>G (p.Phe797Val) n.562T>G c.2209T>G (p.Phe737Val) c.2464T>G (p.Phe822Val) c.2026T>G (p.Phe676Val) c.2326T>G (p.Phe776Val) n.2777T>G | |
| 9 | g.104825836A>G | CA374321407 | ABCA1 | c.2389T>C (p.Phe797Leu) n.562T>C c.2209T>C (p.Phe737Leu) c.2464T>C (p.Phe822Leu) c.2026T>C (p.Phe676Leu) c.2326T>C (p.Phe776Leu) n.2777T>C | |
| 9 | g.104825836A>T | CA374321408 | ABCA1 | c.2389T>A (p.Phe797Ile) n.562T>A c.2209T>A (p.Phe737Ile) c.2464T>A (p.Phe822Ile) c.2026T>A (p.Phe676Ile) c.2326T>A (p.Phe776Ile) n.2777T>A | COSMIC |
| 9 | g.104825837A>C | CA466506944 | ABCA1 | c.2388T>G (p.Leu796=) n.561T>G c.2208T>G (p.Leu736=) c.2463T>G (p.Leu821=) c.2025T>G (p.Leu675=) c.2325T>G (p.Leu775=) n.2776T>G | |
| 9 | g.104825837A>G | CA466506945 | ABCA1 | c.2388T>C (p.Leu796=) n.561T>C c.2208T>C (p.Leu736=) c.2463T>C (p.Leu821=) c.2025T>C (p.Leu675=) c.2325T>C (p.Leu775=) n.2776T>C | |
| 9 | g.104825837A>T | CA466506946 | ABCA1 | c.2388T>A (p.Leu796=) n.561T>A c.2208T>A (p.Leu736=) c.2463T>A (p.Leu821=) c.2025T>A (p.Leu675=) c.2325T>A (p.Leu775=) n.2776T>A | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825838A>C | CA374321410 | ABCA1 | c.2387T>G (p.Leu796Arg) n.560T>G c.2207T>G (p.Leu736Arg) c.2462T>G (p.Leu821Arg) c.2024T>G (p.Leu675Arg) c.2324T>G (p.Leu775Arg) n.2775T>G | |
| 9 | g.104825838A>G | CA374321411 | ABCA1 | c.2387T>C (p.Leu796Pro) n.560T>C c.2207T>C (p.Leu736Pro) c.2462T>C (p.Leu821Pro) c.2024T>C (p.Leu675Pro) c.2324T>C (p.Leu775Pro) n.2775T>C | |
| 9 | g.104825838A>T | CA374321412 | ABCA1 | c.2387T>A (p.Leu796His) n.560T>A c.2207T>A (p.Leu736His) c.2462T>A (p.Leu821His) c.2024T>A (p.Leu675His) c.2324T>A (p.Leu775His) n.2775T>A | |
| 9 | g.104825839G>A | CA374321413 | ABCA1 | c.2386C>T (p.Leu796Phe) n.559C>T c.2206C>T (p.Leu736Phe) c.2461C>T (p.Leu821Phe) c.2023C>T (p.Leu675Phe) c.2323C>T (p.Leu775Phe) n.2774C>T | |
| 9 | g.104825839G>C | CA374321414 | ABCA1 | c.2386C>G (p.Leu796Val) n.559C>G c.2206C>G (p.Leu736Val) c.2461C>G (p.Leu821Val) c.2023C>G (p.Leu675Val) c.2323C>G (p.Leu775Val) n.2774C>G | |
| 9 | g.104825839G>T | CA374321415 | ABCA1 | c.2386C>A (p.Leu796Ile) n.559C>A c.2206C>A (p.Leu736Ile) c.2461C>A (p.Leu821Ile) c.2023C>A (p.Leu675Ile) c.2323C>A (p.Leu775Ile) n.2774C>A | |
| 9 | g.104825840G>A | CA466506947 | ABCA1 | c.2385C>T (p.Ala795=) n.558C>T c.2205C>T (p.Ala735=) c.2460C>T (p.Ala820=) c.2022C>T (p.Ala674=) c.2322C>T (p.Ala774=) n.2773C>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825840G>C | CA466506948 | ABCA1 | c.2385C>G (p.Ala795=) n.558C>G c.2205C>G (p.Ala735=) c.2460C>G (p.Ala820=) c.2022C>G (p.Ala674=) c.2322C>G (p.Ala774=) n.2773C>G | |
| 9 | g.104825840G= | CA1869915167 | ABCA1 | c.2385C= (p.Ala795=) n.558C= c.2205C= (p.Ala735=) c.2460C= (p.Ala820=) c.2022C= (p.Ala674=) c.2322C= (p.Ala774=) n.2773C= | |
| 9 | g.104825840G>T | CA466506949 | ABCA1 | c.2385C>A (p.Ala795=) n.558C>A c.2205C>A (p.Ala735=) c.2460C>A (p.Ala820=) c.2022C>A (p.Ala674=) c.2322C>A (p.Ala774=) n.2773C>A | |
| 9 | g.104825841G>A | CA374321416 | ABCA1 | c.2384C>T (p.Ala795Val) n.557C>T c.2204C>T (p.Ala735Val) c.2459C>T (p.Ala820Val) c.2021C>T (p.Ala674Val) c.2321C>T (p.Ala774Val) n.2772C>T | gnomAD v4 |
| 9 | g.104825841G>C | CA374321417 | ABCA1 | c.2384C>G (p.Ala795Gly) n.557C>G c.2204C>G (p.Ala735Gly) c.2459C>G (p.Ala820Gly) c.2021C>G (p.Ala674Gly) c.2321C>G (p.Ala774Gly) n.2772C>G | |
| 9 | g.104825841G>T | CA374321418 | ABCA1 | c.2384C>A (p.Ala795Asp) n.557C>A c.2204C>A (p.Ala735Asp) c.2459C>A (p.Ala820Asp) c.2021C>A (p.Ala674Asp) c.2321C>A (p.Ala774Asp) n.2772C>A | |
| 9 | g.104825842C>A | CA197392963 | ABCA1 | c.2383G>T (p.Ala795Ser) n.556G>T c.2203G>T (p.Ala735Ser) c.2458G>T (p.Ala820Ser) c.2020G>T (p.Ala674Ser) c.2320G>T (p.Ala774Ser) n.2771G>T | dbSNP |
| 9 | g.104825842C= | CA1869915169 | ABCA1 | c.2383G= (p.Ala795=) n.556G= c.2203G= (p.Ala735=) c.2458G= (p.Ala820=) c.2020G= (p.Ala674=) c.2320G= (p.Ala774=) n.2771G= | |
| 9 | g.104825842C>G | CA374321419 | ABCA1 | c.2383G>C (p.Ala795Pro) n.556G>C c.2203G>C (p.Ala735Pro) c.2458G>C (p.Ala820Pro) c.2020G>C (p.Ala674Pro) c.2320G>C (p.Ala774Pro) n.2771G>C | |
| 9 | g.104825842C>T | CA374321420 | ABCA1 | c.2383G>A (p.Ala795Thr) n.556G>A c.2203G>A (p.Ala735Thr) c.2458G>A (p.Ala820Thr) c.2020G>A (p.Ala674Thr) c.2320G>A (p.Ala774Thr) n.2771G>A | |
| 9 | g.104825843A= | CA1869915172 | ABCA1 | c.2382T= (p.Phe794=) n.555T= c.2202T= (p.Phe734=) c.2457T= (p.Phe819=) c.2019T= (p.Phe673=) c.2319T= (p.Phe773=) n.2770T= | |
| 9 | g.104825843A>C | CA374321422 | ABCA1 | c.2382T>G (p.Phe794Leu) n.555T>G c.2202T>G (p.Phe734Leu) c.2457T>G (p.Phe819Leu) c.2019T>G (p.Phe673Leu) c.2319T>G (p.Phe773Leu) n.2770T>G | |
| 9 | g.104825843A>G | CA5168741 | ABCA1 | c.2382T>C (p.Phe794=) n.555T>C c.2202T>C (p.Phe734=) c.2457T>C (p.Phe819=) c.2019T>C (p.Phe673=) c.2319T>C (p.Phe773=) n.2770T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825843A>T | CA374321421 | ABCA1 | c.2382T>A (p.Phe794Leu) n.555T>A c.2202T>A (p.Phe734Leu) c.2457T>A (p.Phe819Leu) c.2019T>A (p.Phe673Leu) c.2319T>A (p.Phe773Leu) n.2770T>A | |
| 9 | g.104825844A>C | CA374321423 | ABCA1 | c.2381T>G (p.Phe794Cys) n.554T>G c.2201T>G (p.Phe734Cys) c.2456T>G (p.Phe819Cys) c.2018T>G (p.Phe673Cys) c.2318T>G (p.Phe773Cys) n.2769T>G | |
| 9 | g.104825844A>G | CA374321424 | ABCA1 | c.2381T>C (p.Phe794Ser) n.554T>C c.2201T>C (p.Phe734Ser) c.2456T>C (p.Phe819Ser) c.2018T>C (p.Phe673Ser) c.2318T>C (p.Phe773Ser) n.2769T>C | |
| 9 | g.104825844A>T | CA374321425 | ABCA1 | c.2381T>A (p.Phe794Tyr) n.554T>A c.2201T>A (p.Phe734Tyr) c.2456T>A (p.Phe819Tyr) c.2018T>A (p.Phe673Tyr) c.2318T>A (p.Phe773Tyr) n.2769T>A | |
| 9 | g.104825845A>C | CA374321426 | ABCA1 | c.2380T>G (p.Phe794Val) n.553T>G c.2200T>G (p.Phe734Val) c.2455T>G (p.Phe819Val) c.2017T>G (p.Phe673Val) c.2317T>G (p.Phe773Val) n.2768T>G | |
| 9 | g.104825845A>G | CA374321427 | ABCA1 | c.2380T>C (p.Phe794Leu) n.553T>C c.2200T>C (p.Phe734Leu) c.2455T>C (p.Phe819Leu) c.2017T>C (p.Phe673Leu) c.2317T>C (p.Phe773Leu) n.2768T>C | |
| 9 | g.104825845A>T | CA374321428 | ABCA1 | c.2380T>A (p.Phe794Ile) n.553T>A c.2200T>A (p.Phe734Ile) c.2455T>A (p.Phe819Ile) c.2017T>A (p.Phe673Ile) c.2317T>A (p.Phe773Ile) n.2768T>A | |
| 9 | g.104825846G>A | CA466506950 | ABCA1 | c.2379C>T (p.Tyr793=) n.552C>T c.2199C>T (p.Tyr733=) c.2454C>T (p.Tyr818=) c.2016C>T (p.Tyr672=) c.2316C>T (p.Tyr772=) n.2767C>T | gnomAD v4 |
| 9 | g.104825846G>C | CA374321429 | ABCA1 | c.2379C>G (p.Tyr793Ter) n.552C>G c.2199C>G (p.Tyr733Ter) c.2454C>G (p.Tyr818Ter) c.2016C>G (p.Tyr672Ter) c.2316C>G (p.Tyr772Ter) n.2767C>G | |
| 9 | g.104825846G>T | CA374321430 | ABCA1 | c.2379C>A (p.Tyr793Ter) n.552C>A c.2199C>A (p.Tyr733Ter) c.2454C>A (p.Tyr818Ter) c.2016C>A (p.Tyr672Ter) c.2316C>A (p.Tyr772Ter) n.2767C>A | |
| 9 | g.104825847T>A | CA374321431 | ABCA1 | c.2378A>T (p.Tyr793Phe) n.551A>T c.2198A>T (p.Tyr733Phe) c.2453A>T (p.Tyr818Phe) c.2015A>T (p.Tyr672Phe) c.2315A>T (p.Tyr772Phe) n.2766A>T | |
| 9 | g.104825847T>C | CA374321432 | ABCA1 | c.2378A>G (p.Tyr793Cys) n.551A>G c.2198A>G (p.Tyr733Cys) c.2453A>G (p.Tyr818Cys) c.2015A>G (p.Tyr672Cys) c.2315A>G (p.Tyr772Cys) n.2766A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825847T>G | CA374321433 | ABCA1 | c.2378A>C (p.Tyr793Ser) n.551A>C c.2198A>C (p.Tyr733Ser) c.2453A>C (p.Tyr818Ser) c.2015A>C (p.Tyr672Ser) c.2315A>C (p.Tyr772Ser) n.2766A>C | dbSNP |
| 9 | g.104825847T= | CA1869915176 | ABCA1 | c.2378A= (p.Tyr793=) n.551A= c.2198A= (p.Tyr733=) c.2453A= (p.Tyr818=) c.2015A= (p.Tyr672=) c.2315A= (p.Tyr772=) n.2766A= | |
| 9 | g.104825848A= | CA1869915179 | ABCA1 | c.2377T= (p.Tyr793=) n.550T= c.2197T= (p.Tyr733=) c.2452T= (p.Tyr818=) c.2014T= (p.Tyr672=) c.2314T= (p.Tyr772=) n.2765T= | |
| 9 | g.104825848A>C | CA374321434 | ABCA1 | c.2377T>G (p.Tyr793Asp) n.550T>G c.2197T>G (p.Tyr733Asp) c.2452T>G (p.Tyr818Asp) c.2014T>G (p.Tyr672Asp) c.2314T>G (p.Tyr772Asp) n.2765T>G | |
| 9 | g.104825848A>G | CA374321435 | ABCA1 | c.2377T>C (p.Tyr793His) n.550T>C c.2197T>C (p.Tyr733His) c.2452T>C (p.Tyr818His) c.2014T>C (p.Tyr672His) c.2314T>C (p.Tyr772His) n.2765T>C | dbSNP |
| 9 | g.104825848A>T | CA374321436 | ABCA1 | c.2377T>A (p.Tyr793Asn) n.550T>A c.2197T>A (p.Tyr733Asn) c.2452T>A (p.Tyr818Asn) c.2014T>A (p.Tyr672Asn) c.2314T>A (p.Tyr772Asn) n.2765T>A | |
| 9 | g.104825849C>A | CA374321438 | ABCA1 | c.2376G>T (p.Glu792Asp) n.549G>T c.2196G>T (p.Glu732Asp) c.2451G>T (p.Glu817Asp) c.2013G>T (p.Glu671Asp) c.2313G>T (p.Glu771Asp) n.2764G>T | |
| 9 | g.104825849C>G | CA374321437 | ABCA1 | c.2376G>C (p.Glu792Asp) n.549G>C c.2196G>C (p.Glu732Asp) c.2451G>C (p.Glu817Asp) c.2013G>C (p.Glu671Asp) c.2313G>C (p.Glu771Asp) n.2764G>C | |
| 9 | g.104825849C>T | CA466506951 | ABCA1 | c.2376G>A (p.Glu792=) n.549G>A c.2196G>A (p.Glu732=) c.2451G>A (p.Glu817=) c.2013G>A (p.Glu671=) c.2313G>A (p.Glu771=) n.2764G>A | |
| 9 | g.104825850T>A | CA374321439 | ABCA1 | c.2375A>T (p.Glu792Val) n.548A>T c.2195A>T (p.Glu732Val) c.2450A>T (p.Glu817Val) c.2012A>T (p.Glu671Val) c.2312A>T (p.Glu771Val) n.2763A>T | COSMIC |
| 9 | g.104825850T>C | CA5168742 | ABCA1 | c.2375A>G (p.Glu792Gly) n.548A>G c.2195A>G (p.Glu732Gly) c.2450A>G (p.Glu817Gly) c.2012A>G (p.Glu671Gly) c.2312A>G (p.Glu771Gly) n.2763A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825850T>G | CA374321440 | ABCA1 | c.2375A>C (p.Glu792Ala) n.548A>C c.2195A>C (p.Glu732Ala) c.2450A>C (p.Glu817Ala) c.2012A>C (p.Glu671Ala) c.2312A>C (p.Glu771Ala) n.2763A>C | |
| 9 | g.104825850T= | CA1869915183 | ABCA1 | c.2375A= (p.Glu792=) n.548A= c.2195A= (p.Glu732=) c.2450A= (p.Glu817=) c.2012A= (p.Glu671=) c.2312A= (p.Glu771=) n.2763A= | |
| 9 | g.104825851C>A | CA374321441 | ABCA1 | c.2374G>T (p.Glu792Ter) n.547G>T c.2194G>T (p.Glu732Ter) c.2449G>T (p.Glu817Ter) c.2011G>T (p.Glu671Ter) c.2311G>T (p.Glu771Ter) n.2762G>T | |
| 9 | g.104825851C>G | CA374321442 | ABCA1 | c.2374G>C (p.Glu792Gln) n.547G>C c.2194G>C (p.Glu732Gln) c.2449G>C (p.Glu817Gln) c.2011G>C (p.Glu671Gln) c.2311G>C (p.Glu771Gln) n.2762G>C | |
| 9 | g.104825851C>T | CA374321443 | ABCA1 | c.2374G>A (p.Glu792Lys) n.547G>A c.2194G>A (p.Glu732Lys) c.2449G>A (p.Glu817Lys) c.2011G>A (p.Glu671Lys) c.2311G>A (p.Glu771Lys) n.2762G>A | |
| 9 | g.104825852A>C | CA374321445 | ABCA1 | c.2373T>G (p.Cys791Trp) n.546T>G c.2193T>G (p.Cys731Trp) c.2448T>G (p.Cys816Trp) c.2010T>G (p.Cys670Trp) c.2310T>G (p.Cys770Trp) n.2761T>G | |
| 9 | g.104825852A>G | CA466506952 | ABCA1 | c.2373T>C (p.Cys791=) n.546T>C c.2193T>C (p.Cys731=) c.2448T>C (p.Cys816=) c.2010T>C (p.Cys670=) c.2310T>C (p.Cys770=) n.2761T>C | |
| 9 | g.104825852A>T | CA374321444 | ABCA1 | c.2373T>A (p.Cys791Ter) n.546T>A c.2193T>A (p.Cys731Ter) c.2448T>A (p.Cys816Ter) c.2010T>A (p.Cys670Ter) c.2310T>A (p.Cys770Ter) n.2761T>A | |
| 9 | g.104825853C>A | CA374321446 | ABCA1 | c.2372G>T (p.Cys791Phe) n.545G>T c.2192G>T (p.Cys731Phe) c.2447G>T (p.Cys816Phe) c.2009G>T (p.Cys670Phe) c.2309G>T (p.Cys770Phe) n.2760G>T | |
| 9 | g.104825853C= | CA1869915187 | ABCA1 | c.2372G= (p.Cys791=) n.545G= c.2192G= (p.Cys731=) c.2447G= (p.Cys816=) c.2009G= (p.Cys670=) c.2309G= (p.Cys770=) n.2760G= | |
| 9 | g.104825853C>G | CA374321447 | ABCA1 | c.2372G>C (p.Cys791Ser) n.545G>C c.2192G>C (p.Cys731Ser) c.2447G>C (p.Cys816Ser) c.2009G>C (p.Cys670Ser) c.2309G>C (p.Cys770Ser) n.2760G>C | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825853C>T | CA374321448 | ABCA1 | c.2372G>A (p.Cys791Tyr) n.545G>A c.2192G>A (p.Cys731Tyr) c.2447G>A (p.Cys816Tyr) c.2009G>A (p.Cys670Tyr) c.2309G>A (p.Cys770Tyr) n.2760G>A | dbSNP |
| 9 | g.104825854A>C | CA374321449 | ABCA1 | c.2371T>G (p.Cys791Gly) n.544T>G c.2191T>G (p.Cys731Gly) c.2446T>G (p.Cys816Gly) c.2008T>G (p.Cys670Gly) c.2308T>G (p.Cys770Gly) n.2759T>G | |
| 9 | g.104825854A>G | CA374321450 | ABCA1 | c.2371T>C (p.Cys791Arg) n.544T>C c.2191T>C (p.Cys731Arg) c.2446T>C (p.Cys816Arg) c.2008T>C (p.Cys670Arg) c.2308T>C (p.Cys770Arg) n.2759T>C | |
| 9 | g.104825854A>T | CA374321451 | ABCA1 | c.2371T>A (p.Cys791Ser) n.544T>A c.2191T>A (p.Cys731Ser) c.2446T>A (p.Cys816Ser) c.2008T>A (p.Cys670Ser) c.2308T>A (p.Cys770Ser) n.2759T>A | |
| 9 | g.104825855G>A | CA466506955 | ABCA1 | c.2370C>T (p.Gly790=) n.543C>T c.2190C>T (p.Gly730=) c.2445C>T (p.Gly815=) c.2007C>T (p.Gly669=) c.2307C>T (p.Gly769=) n.2758C>T | |
| 9 | g.104825855G>C | CA466506954 | ABCA1 | c.2370C>G (p.Gly790=) n.543C>G c.2190C>G (p.Gly730=) c.2445C>G (p.Gly815=) c.2007C>G (p.Gly669=) c.2307C>G (p.Gly769=) n.2758C>G | |
| 9 | g.104825855G>T | CA466506953 | ABCA1 | c.2370C>A (p.Gly790=) n.543C>A c.2190C>A (p.Gly730=) c.2445C>A (p.Gly815=) c.2007C>A (p.Gly669=) c.2307C>A (p.Gly769=) n.2758C>A | |
| 9 | g.104825856C>A | CA374321454 | ABCA1 | c.2369G>T (p.Gly790Val) n.542G>T c.2189G>T (p.Gly730Val) c.2444G>T (p.Gly815Val) c.2006G>T (p.Gly669Val) c.2306G>T (p.Gly769Val) n.2757G>T | |
| 9 | g.104825856C>G | CA374321452 | ABCA1 | c.2369G>C (p.Gly790Ala) n.542G>C c.2189G>C (p.Gly730Ala) c.2444G>C (p.Gly815Ala) c.2006G>C (p.Gly669Ala) c.2306G>C (p.Gly769Ala) n.2757G>C | |
| 9 | g.104825856C>T | CA374321453 | ABCA1 | c.2369G>A (p.Gly790Asp) n.542G>A c.2189G>A (p.Gly730Asp) c.2444G>A (p.Gly815Asp) c.2006G>A (p.Gly669Asp) c.2306G>A (p.Gly769Asp) n.2757G>A | |
| 9 | g.104825857C>A | CA374321455 | ABCA1 | c.2368G>T (p.Gly790Cys) n.541G>T c.2188G>T (p.Gly730Cys) c.2443G>T (p.Gly815Cys) c.2005G>T (p.Gly669Cys) c.2305G>T (p.Gly769Cys) n.2756G>T | |
| 9 | g.104825857C>G | CA374321456 | ABCA1 | c.2368G>C (p.Gly790Arg) n.541G>C c.2188G>C (p.Gly730Arg) c.2443G>C (p.Gly815Arg) c.2005G>C (p.Gly669Arg) c.2305G>C (p.Gly769Arg) n.2756G>C | |
| 9 | g.104825857C>T | CA374321457 | ABCA1 | c.2368G>A (p.Gly790Ser) n.541G>A c.2188G>A (p.Gly730Ser) c.2443G>A (p.Gly815Ser) c.2005G>A (p.Gly669Ser) c.2305G>A (p.Gly769Ser) n.2756G>A | gnomAD v4 |
| 9 | g.104825858A>C | CA374321458 | ABCA1 | c.2367T>G (p.Phe789Leu) n.540T>G c.2187T>G (p.Phe729Leu) c.2442T>G (p.Phe814Leu) c.2004T>G (p.Phe668Leu) c.2304T>G (p.Phe768Leu) n.2755T>G | |
| 9 | g.104825858A>G | CA466506956 | ABCA1 | c.2367T>C (p.Phe789=) n.540T>C c.2187T>C (p.Phe729=) c.2442T>C (p.Phe814=) c.2004T>C (p.Phe668=) c.2304T>C (p.Phe768=) n.2755T>C | |
| 9 | g.104825858A>T | CA374321459 | ABCA1 | c.2367T>A (p.Phe789Leu) n.540T>A c.2187T>A (p.Phe729Leu) c.2442T>A (p.Phe814Leu) c.2004T>A (p.Phe668Leu) c.2304T>A (p.Phe768Leu) n.2755T>A | |
| 9 | g.104825859A>C | CA374321460 | ABCA1 | c.2366T>G (p.Phe789Cys) n.539T>G c.2186T>G (p.Phe729Cys) c.2441T>G (p.Phe814Cys) c.2003T>G (p.Phe668Cys) c.2303T>G (p.Phe768Cys) n.2754T>G | |
| 9 | g.104825859A>G | CA374321461 | ABCA1 | c.2366T>C (p.Phe789Ser) n.539T>C c.2186T>C (p.Phe729Ser) c.2441T>C (p.Phe814Ser) c.2003T>C (p.Phe668Ser) c.2303T>C (p.Phe768Ser) n.2754T>C | |
| 9 | g.104825859A>T | CA374321462 | ABCA1 | c.2366T>A (p.Phe789Tyr) n.539T>A c.2186T>A (p.Phe729Tyr) c.2441T>A (p.Phe814Tyr) c.2003T>A (p.Phe668Tyr) c.2303T>A (p.Phe768Tyr) n.2754T>A | |
| 9 | g.104825860A>C | CA374321463 | ABCA1 | c.2365T>G (p.Phe789Val) n.538T>G c.2185T>G (p.Phe729Val) c.2440T>G (p.Phe814Val) c.2002T>G (p.Phe668Val) c.2302T>G (p.Phe768Val) n.2753T>G | |
| 9 | g.104825860A>G | CA374321465 | ABCA1 | c.2365T>C (p.Phe789Leu) n.538T>C c.2185T>C (p.Phe729Leu) c.2440T>C (p.Phe814Leu) c.2002T>C (p.Phe668Leu) c.2302T>C (p.Phe768Leu) n.2753T>C | |
| 9 | g.104825860A>T | CA374321464 | ABCA1 | c.2365T>A (p.Phe789Ile) n.538T>A c.2185T>A (p.Phe729Ile) c.2440T>A (p.Phe814Ile) c.2002T>A (p.Phe668Ile) c.2302T>A (p.Phe768Ile) n.2753T>A | |
| 9 | g.104825861C>A | CA5168743 | ABCA1 | c.2364G>T (p.Gly788=) n.537G>T c.2184G>T (p.Gly728=) c.2439G>T (p.Gly813=) c.2001G>T (p.Gly667=) c.2301G>T (p.Gly767=) n.2752G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825861C= | CA1869915197 | ABCA1 | c.2364G= (p.Gly788=) n.537G= c.2184G= (p.Gly728=) c.2439G= (p.Gly813=) c.2001G= (p.Gly667=) c.2301G= (p.Gly767=) n.2752G= | |
| 9 | g.104825861C>G | CA466506957 | ABCA1 | c.2364G>C (p.Gly788=) n.537G>C c.2184G>C (p.Gly728=) c.2439G>C (p.Gly813=) c.2001G>C (p.Gly667=) c.2301G>C (p.Gly767=) n.2752G>C | dbSNP |
| 9 | g.104825861C>T | CA466506958 | ABCA1 | c.2364G>A (p.Gly788=) n.537G>A c.2184G>A (p.Gly728=) c.2439G>A (p.Gly813=) c.2001G>A (p.Gly667=) c.2301G>A (p.Gly767=) n.2752G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825862C>A | CA374321466 | ABCA1 | c.2363G>T (p.Gly788Val) n.536G>T c.2183G>T (p.Gly728Val) c.2438G>T (p.Gly813Val) c.2000G>T (p.Gly667Val) c.2300G>T (p.Gly767Val) n.2751G>T | gnomAD v4 |
| 9 | g.104825862C= | CA1869915200 | ABCA1 | c.2363G= (p.Gly788=) n.536G= c.2183G= (p.Gly728=) c.2438G= (p.Gly813=) c.2000G= (p.Gly667=) c.2300G= (p.Gly767=) n.2751G= | |
| 9 | g.104825862C>G | CA374321467 | ABCA1 | c.2363G>C (p.Gly788Ala) n.536G>C c.2183G>C (p.Gly728Ala) c.2438G>C (p.Gly813Ala) c.2000G>C (p.Gly667Ala) c.2300G>C (p.Gly767Ala) n.2751G>C | dbSNP gnomAD v2 |
| 9 | g.104825862C>T | CA374321468 | ABCA1 | c.2363G>A (p.Gly788Glu) n.536G>A c.2183G>A (p.Gly728Glu) c.2438G>A (p.Gly813Glu) c.2000G>A (p.Gly667Glu) c.2300G>A (p.Gly767Glu) n.2751G>A | |
| 9 | g.104825863C>A | CA197392984 | ABCA1 | c.2362G>T (p.Gly788Trp) n.535G>T c.2182G>T (p.Gly728Trp) c.2437G>T (p.Gly813Trp) c.1999G>T (p.Gly667Trp) c.2299G>T (p.Gly767Trp) n.2750G>T | dbSNP |
| 9 | g.104825863C= | CA1869915203 | ABCA1 | c.2362G= (p.Gly788=) n.535G= c.2182G= (p.Gly728=) c.2437G= (p.Gly813=) c.1999G= (p.Gly667=) c.2299G= (p.Gly767=) n.2750G= | |
| 9 | g.104825863C>G | CA374321470 | ABCA1 | c.2362G>C (p.Gly788Arg) n.535G>C c.2182G>C (p.Gly728Arg) c.2437G>C (p.Gly813Arg) c.1999G>C (p.Gly667Arg) c.2299G>C (p.Gly767Arg) n.2750G>C | |
| 9 | g.104825863C>T | CA374321469 | ABCA1 | c.2362G>A (p.Gly788Arg) n.535G>A c.2182G>A (p.Gly728Arg) c.2437G>A (p.Gly813Arg) c.1999G>A (p.Gly667Arg) c.2299G>A (p.Gly767Arg) n.2750G>A | |
| 9 | g.104825864A>C | CA374321471 | ABCA1 | c.2361T>G (p.Phe787Leu) n.534T>G c.2181T>G (p.Phe727Leu) c.2436T>G (p.Phe812Leu) c.1998T>G (p.Phe666Leu) c.2298T>G (p.Phe766Leu) n.2749T>G | gnomAD v4 |
| 9 | g.104825864A>G | CA466506959 | ABCA1 | c.2361T>C (p.Phe787=) n.534T>C c.2181T>C (p.Phe727=) c.2436T>C (p.Phe812=) c.1998T>C (p.Phe666=) c.2298T>C (p.Phe766=) n.2749T>C | |
| 9 | g.104825864A>T | CA374321472 | ABCA1 | c.2361T>A (p.Phe787Leu) n.534T>A c.2181T>A (p.Phe727Leu) c.2436T>A (p.Phe812Leu) c.1998T>A (p.Phe666Leu) c.2298T>A (p.Phe766Leu) n.2749T>A | |
| 9 | g.104825865A>C | CA374321473 | ABCA1 | c.2360T>G (p.Phe787Cys) n.533T>G c.2180T>G (p.Phe727Cys) c.2435T>G (p.Phe812Cys) c.1997T>G (p.Phe666Cys) c.2297T>G (p.Phe766Cys) n.2748T>G | |
| 9 | g.104825865A>G | CA374321474 | ABCA1 | c.2360T>C (p.Phe787Ser) n.533T>C c.2180T>C (p.Phe727Ser) c.2435T>C (p.Phe812Ser) c.1997T>C (p.Phe666Ser) c.2297T>C (p.Phe766Ser) n.2748T>C | |
| 9 | g.104825865A>T | CA374321475 | ABCA1 | c.2360T>A (p.Phe787Tyr) n.533T>A c.2180T>A (p.Phe727Tyr) c.2435T>A (p.Phe812Tyr) c.1997T>A (p.Phe666Tyr) c.2297T>A (p.Phe766Tyr) n.2748T>A | |
| 9 | g.104825866A>C | CA374321476 | ABCA1 | c.2359T>G (p.Phe787Val) n.532T>G c.2179T>G (p.Phe727Val) c.2434T>G (p.Phe812Val) c.1996T>G (p.Phe666Val) c.2296T>G (p.Phe766Val) n.2747T>G | ClinVar gnomAD v4 |
| 9 | g.104825866A>G | CA374321477 | ABCA1 | c.2359T>C (p.Phe787Leu) n.532T>C c.2179T>C (p.Phe727Leu) c.2434T>C (p.Phe812Leu) c.1996T>C (p.Phe666Leu) c.2296T>C (p.Phe766Leu) n.2747T>C | |
| 9 | g.104825866A>T | CA374321478 | ABCA1 | c.2359T>A (p.Phe787Ile) n.532T>A c.2179T>A (p.Phe727Ile) c.2434T>A (p.Phe812Ile) c.1996T>A (p.Phe666Ile) c.2296T>A (p.Phe766Ile) n.2747T>A | |
| 9 | g.104825867A>C | CA466506960 | ABCA1 | c.2358T>G (p.Ala786=) n.531T>G c.2178T>G (p.Ala726=) c.2433T>G (p.Ala811=) c.1995T>G (p.Ala665=) c.2295T>G (p.Ala765=) n.2746T>G | |
| 9 | g.104825867A>G | CA466506961 | ABCA1 | c.2358T>C (p.Ala786=) n.531T>C c.2178T>C (p.Ala726=) c.2433T>C (p.Ala811=) c.1995T>C (p.Ala665=) c.2295T>C (p.Ala765=) n.2746T>C | |
| 9 | g.104825867A>T | CA466506962 | ABCA1 | c.2358T>A (p.Ala786=) n.531T>A c.2178T>A (p.Ala726=) c.2433T>A (p.Ala811=) c.1995T>A (p.Ala665=) c.2295T>A (p.Ala765=) n.2746T>A | |
| 9 | g.104825868G>A | CA374321479 | ABCA1 | c.2357C>T (p.Ala786Val) n.530C>T c.2177C>T (p.Ala726Val) c.2432C>T (p.Ala811Val) c.1994C>T (p.Ala665Val) c.2294C>T (p.Ala765Val) n.2745C>T | |
| 9 | g.104825868G>C | CA374321480 | ABCA1 | c.2357C>G (p.Ala786Gly) n.530C>G c.2177C>G (p.Ala726Gly) c.2432C>G (p.Ala811Gly) c.1994C>G (p.Ala665Gly) c.2294C>G (p.Ala765Gly) n.2745C>G | gnomAD v4 |
| 9 | g.104825868G>T | CA374321481 | ABCA1 | c.2357C>A (p.Ala786Asp) n.530C>A c.2177C>A (p.Ala726Asp) c.2432C>A (p.Ala811Asp) c.1994C>A (p.Ala665Asp) c.2294C>A (p.Ala765Asp) n.2745C>A | |
| 9 | g.104825869C>A | CA374321482 | ABCA1 | c.2356G>T (p.Ala786Ser) n.529G>T c.2176G>T (p.Ala726Ser) c.2431G>T (p.Ala811Ser) c.1993G>T (p.Ala665Ser) c.2293G>T (p.Ala765Ser) n.2744G>T | |
| 9 | g.104825869C= | CA1869915210 | ABCA1 | c.2356G= (p.Ala786=) n.529G= c.2176G= (p.Ala726=) c.2431G= (p.Ala811=) c.1993G= (p.Ala665=) c.2293G= (p.Ala765=) n.2744G= | |
| 9 | g.104825869C>G | CA374321483 | ABCA1 | c.2356G>C (p.Ala786Pro) n.529G>C c.2176G>C (p.Ala726Pro) c.2431G>C (p.Ala811Pro) c.1993G>C (p.Ala665Pro) c.2293G>C (p.Ala765Pro) n.2744G>C | gnomAD v4 |
| 9 | g.104825869C>T | CA5168744 | ABCA1 | c.2356G>A (p.Ala786Thr) n.529G>A c.2176G>A (p.Ala726Thr) c.2431G>A (p.Ala811Thr) c.1993G>A (p.Ala665Thr) c.2293G>A (p.Ala765Thr) n.2744G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 9 | g.104825870C>A | CA466506963 | ABCA1 | c.2355G>T (p.Val785=) n.528G>T c.2175G>T (p.Val725=) c.2430G>T (p.Val810=) c.1992G>T (p.Val664=) c.2292G>T (p.Val764=) n.2743G>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825870C= | CA1869915213 | ABCA1 | c.2355G= (p.Val785=) n.528G= c.2175G= (p.Val725=) c.2430G= (p.Val810=) c.1992G= (p.Val664=) c.2292G= (p.Val764=) n.2743G= | |
| 9 | g.104825870C>G | CA466506965 | ABCA1 | c.2355G>C (p.Val785=) n.528G>C c.2175G>C (p.Val725=) c.2430G>C (p.Val810=) c.1992G>C (p.Val664=) c.2292G>C (p.Val764=) n.2743G>C | |
| 9 | g.104825870C>T | CA466506966 | ABCA1 | c.2355G>A (p.Val785=) n.528G>A c.2175G>A (p.Val725=) c.2430G>A (p.Val810=) c.1992G>A (p.Val664=) c.2292G>A (p.Val764=) n.2743G>A | |
| 9 | g.104825871A>C | CA374321484 | ABCA1 | c.2354T>G (p.Val785Gly) n.527T>G c.2174T>G (p.Val725Gly) c.2429T>G (p.Val810Gly) c.1991T>G (p.Val664Gly) c.2291T>G (p.Val764Gly) n.2742T>G | gnomAD v4 |
| 9 | g.104825871A>G | CA374321485 | ABCA1 | c.2354T>C (p.Val785Ala) n.527T>C c.2174T>C (p.Val725Ala) c.2429T>C (p.Val810Ala) c.1991T>C (p.Val664Ala) c.2291T>C (p.Val764Ala) n.2742T>C | |
| 9 | g.104825871A>T | CA374321486 | ABCA1 | c.2354T>A (p.Val785Glu) n.527T>A c.2174T>A (p.Val725Glu) c.2429T>A (p.Val810Glu) c.1991T>A (p.Val664Glu) c.2291T>A (p.Val764Glu) n.2742T>A | gnomAD v4 |
| 9 | g.104825872C>A | CA374321487 | ABCA1 | c.2353G>T (p.Val785Leu) n.526G>T c.2173G>T (p.Val725Leu) c.2428G>T (p.Val810Leu) c.1990G>T (p.Val664Leu) c.2290G>T (p.Val764Leu) n.2741G>T | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825872C= | CA1869915214 | ABCA1 | c.2353G= (p.Val785=) n.526G= c.2173G= (p.Val725=) c.2428G= (p.Val810=) c.1990G= (p.Val664=) c.2290G= (p.Val764=) n.2741G= | |
| 9 | g.104825872C>G | CA374321488 | ABCA1 | c.2353G>C (p.Val785Leu) n.526G>C c.2173G>C (p.Val725Leu) c.2428G>C (p.Val810Leu) c.1990G>C (p.Val664Leu) c.2290G>C (p.Val764Leu) n.2741G>C | |
| 9 | g.104825872C>T | CA374321489 | ABCA1 | c.2353G>A (p.Val785Met) n.526G>A c.2173G>A (p.Val725Met) c.2428G>A (p.Val810Met) c.1990G>A (p.Val664Met) c.2290G>A (p.Val764Met) n.2741G>A | gnomAD v4 |
| 9 | g.104825873A= | CA1869915215 | ABCA1 | c.2352T= (p.Pro784=) n.525T= c.2172T= (p.Pro724=) c.2427T= (p.Pro809=) c.1989T= (p.Pro663=) c.2289T= (p.Pro763=) n.2740T= | |
| 9 | g.104825873A>C | CA466506969 | ABCA1 | c.2352T>G (p.Pro784=) n.525T>G c.2172T>G (p.Pro724=) c.2427T>G (p.Pro809=) c.1989T>G (p.Pro663=) c.2289T>G (p.Pro763=) n.2740T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825873A>G | CA466506967 | ABCA1 | c.2352T>C (p.Pro784=) n.525T>C c.2172T>C (p.Pro724=) c.2427T>C (p.Pro809=) c.1989T>C (p.Pro663=) c.2289T>C (p.Pro763=) n.2740T>C | |
| 9 | g.104825873A>T | CA466506968 | ABCA1 | c.2352T>A (p.Pro784=) n.525T>A c.2172T>A (p.Pro724=) c.2427T>A (p.Pro809=) c.1989T>A (p.Pro663=) c.2289T>A (p.Pro763=) n.2740T>A | |
| 9 | g.104825874G>A | CA374321492 | ABCA1 | c.2351C>T (p.Pro784Leu) n.524C>T c.2171C>T (p.Pro724Leu) c.2426C>T (p.Pro809Leu) c.1988C>T (p.Pro663Leu) c.2288C>T (p.Pro763Leu) n.2739C>T | |
| 9 | g.104825874G>C | CA374321491 | ABCA1 | c.2351C>G (p.Pro784Arg) n.524C>G c.2171C>G (p.Pro724Arg) c.2426C>G (p.Pro809Arg) c.1988C>G (p.Pro663Arg) c.2288C>G (p.Pro763Arg) n.2739C>G | |
| 9 | g.104825874G>T | CA374321490 | ABCA1 | c.2351C>A (p.Pro784His) n.524C>A c.2171C>A (p.Pro724His) c.2426C>A (p.Pro809His) c.1988C>A (p.Pro663His) c.2288C>A (p.Pro763His) n.2739C>A | |
| 9 | g.104825875G>A | CA374321493 | ABCA1 | c.2350C>T (p.Pro784Ser) n.523C>T c.2170C>T (p.Pro724Ser) c.2425C>T (p.Pro809Ser) c.1987C>T (p.Pro663Ser) c.2287C>T (p.Pro763Ser) n.2738C>T | gnomAD v4 |
| 9 | g.104825875G>C | CA374321494 | ABCA1 | c.2350C>G (p.Pro784Ala) n.523C>G c.2170C>G (p.Pro724Ala) c.2425C>G (p.Pro809Ala) c.1987C>G (p.Pro663Ala) c.2287C>G (p.Pro763Ala) n.2738C>G | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825875G= | CA1869915216 | ABCA1 | c.2350C= (p.Pro784=) n.523C= c.2170C= (p.Pro724=) c.2425C= (p.Pro809=) c.1987C= (p.Pro663=) c.2287C= (p.Pro763=) n.2738C= | |
| 9 | g.104825875G>T | CA374321495 | ABCA1 | c.2350C>A (p.Pro784Thr) n.523C>A c.2170C>A (p.Pro724Thr) c.2425C>A (p.Pro809Thr) c.1987C>A (p.Pro663Thr) c.2287C>A (p.Pro763Thr) n.2738C>A | |
| 9 | g.104825876A>C | CA466506973 | ABCA1 | c.2349T>G (p.Ser783=) n.522T>G c.2169T>G (p.Ser723=) c.2424T>G (p.Ser808=) c.1986T>G (p.Ser662=) c.2286T>G (p.Ser762=) n.2737T>G | |
| 9 | g.104825876A>G | CA466506975 | ABCA1 | c.2349T>C (p.Ser783=) n.522T>C c.2169T>C (p.Ser723=) c.2424T>C (p.Ser808=) c.1986T>C (p.Ser662=) c.2286T>C (p.Ser762=) n.2737T>C | gnomAD v4 |
| 9 | g.104825876A>T | CA466506977 | ABCA1 | c.2349T>A (p.Ser783=) n.522T>A c.2169T>A (p.Ser723=) c.2424T>A (p.Ser808=) c.1986T>A (p.Ser662=) c.2286T>A (p.Ser762=) n.2737T>A | |
| 9 | g.104825877G>A | CA374321496 | ABCA1 | c.2348C>T (p.Ser783Phe) n.521C>T c.2168C>T (p.Ser723Phe) c.2423C>T (p.Ser808Phe) c.1985C>T (p.Ser662Phe) c.2285C>T (p.Ser762Phe) n.2736C>T | |
| 9 | g.104825877G>C | CA374321497 | ABCA1 | c.2348C>G (p.Ser783Cys) n.521C>G c.2168C>G (p.Ser723Cys) c.2423C>G (p.Ser808Cys) c.1985C>G (p.Ser662Cys) c.2285C>G (p.Ser762Cys) n.2736C>G | |
| 9 | g.104825877G>T | CA374321498 | ABCA1 | c.2348C>A (p.Ser783Tyr) n.521C>A c.2168C>A (p.Ser723Tyr) c.2423C>A (p.Ser808Tyr) c.1985C>A (p.Ser662Tyr) c.2285C>A (p.Ser762Tyr) n.2736C>A | |
| 9 | g.104825878A>C | CA374321499 | ABCA1 | c.2347T>G (p.Ser783Ala) n.520T>G c.2167T>G (p.Ser723Ala) c.2422T>G (p.Ser808Ala) c.1984T>G (p.Ser662Ala) c.2284T>G (p.Ser762Ala) n.2735T>G | |
| 9 | g.104825878A>G | CA374321501 | ABCA1 | c.2347T>C (p.Ser783Pro) n.520T>C c.2167T>C (p.Ser723Pro) c.2422T>C (p.Ser808Pro) c.1984T>C (p.Ser662Pro) c.2284T>C (p.Ser762Pro) n.2735T>C | gnomAD v4 |
| 9 | g.104825878A>T | CA374321500 | ABCA1 | c.2347T>A (p.Ser783Thr) n.520T>A c.2167T>A (p.Ser723Thr) c.2422T>A (p.Ser808Thr) c.1984T>A (p.Ser662Thr) c.2284T>A (p.Ser762Thr) n.2735T>A | |
| 9 | g.104825879C>A | CA466506983 | ABCA1 | c.2346G>T (p.Leu782=) n.519G>T c.2166G>T (p.Leu722=) c.2421G>T (p.Leu807=) c.1983G>T (p.Leu661=) c.2283G>T (p.Leu761=) n.2734G>T | |
| 9 | g.104825879C>G | CA466506985 | ABCA1 | c.2346G>C (p.Leu782=) n.519G>C c.2166G>C (p.Leu722=) c.2421G>C (p.Leu807=) c.1983G>C (p.Leu661=) c.2283G>C (p.Leu761=) n.2734G>C | |
| 9 | g.104825879C>T | CA466506987 | ABCA1 | c.2346G>A (p.Leu782=) n.519G>A c.2166G>A (p.Leu722=) c.2421G>A (p.Leu807=) c.1983G>A (p.Leu661=) c.2283G>A (p.Leu761=) n.2734G>A | |
| 9 | g.104825880A>C | CA374321502 | ABCA1 | c.2345T>G (p.Leu782Arg) n.518T>G c.2165T>G (p.Leu722Arg) c.2420T>G (p.Leu807Arg) c.1982T>G (p.Leu661Arg) c.2282T>G (p.Leu761Arg) n.2733T>G | |
| 9 | g.104825880A>G | CA374321503 | ABCA1 | c.2345T>C (p.Leu782Pro) n.518T>C c.2165T>C (p.Leu722Pro) c.2420T>C (p.Leu807Pro) c.1982T>C (p.Leu661Pro) c.2282T>C (p.Leu761Pro) n.2733T>C | |
| 9 | g.104825880A>T | CA374321504 | ABCA1 | c.2345T>A (p.Leu782Gln) n.518T>A c.2165T>A (p.Leu722Gln) c.2420T>A (p.Leu807Gln) c.1982T>A (p.Leu661Gln) c.2282T>A (p.Leu761Gln) n.2733T>A | |
| 9 | g.104825881G>A | CA466506992 | ABCA1 | c.2344C>T (p.Leu782=) n.517C>T c.2164C>T (p.Leu722=) c.2419C>T (p.Leu807=) c.1981C>T (p.Leu661=) c.2281C>T (p.Leu761=) n.2732C>T | |
| 9 | g.104825881G>C | CA374321505 | ABCA1 | c.2344C>G (p.Leu782Val) n.517C>G c.2164C>G (p.Leu722Val) c.2419C>G (p.Leu807Val) c.1981C>G (p.Leu661Val) c.2281C>G (p.Leu761Val) n.2732C>G | |
| 9 | g.104825881G>T | CA374321506 | ABCA1 | c.2344C>A (p.Leu782Met) n.517C>A c.2164C>A (p.Leu722Met) c.2419C>A (p.Leu807Met) c.1981C>A (p.Leu661Met) c.2281C>A (p.Leu761Met) n.2732C>A | |
| 9 | g.104825882C>A | CA466506996 | ABCA1 | c.2343G>T (p.Leu781=) n.516G>T c.2163G>T (p.Leu721=) c.2418G>T (p.Leu806=) c.1980G>T (p.Leu660=) c.2280G>T (p.Leu760=) n.2731G>T | |
| 9 | g.104825882C= | CA1869915217 | ABCA1 | c.2343G= (p.Leu781=) n.516G= c.2163G= (p.Leu721=) c.2418G= (p.Leu806=) c.1980G= (p.Leu660=) c.2280G= (p.Leu760=) n.2731G= | |
| 9 | g.104825882C>G | CA466506998 | ABCA1 | c.2343G>C (p.Leu781=) n.516G>C c.2163G>C (p.Leu721=) c.2418G>C (p.Leu806=) c.1980G>C (p.Leu660=) c.2280G>C (p.Leu760=) n.2731G>C | |
| 9 | g.104825882C>T | CA466506999 | ABCA1 | c.2343G>A (p.Leu781=) n.516G>A c.2163G>A (p.Leu721=) c.2418G>A (p.Leu806=) c.1980G>A (p.Leu660=) c.2280G>A (p.Leu760=) n.2731G>A | dbSNP gnomAD v2 gnomAD v4 |
| 9 | g.104825883A>C | CA374321507 | ABCA1 | c.2342T>G (p.Leu781Arg) n.515T>G c.2162T>G (p.Leu721Arg) c.2417T>G (p.Leu806Arg) c.1979T>G (p.Leu660Arg) c.2279T>G (p.Leu760Arg) n.2730T>G | |
| 9 | g.104825883A>G | CA374321508 | ABCA1 | c.2342T>C (p.Leu781Pro) n.515T>C c.2162T>C (p.Leu721Pro) c.2417T>C (p.Leu806Pro) c.1979T>C (p.Leu660Pro) c.2279T>C (p.Leu760Pro) n.2730T>C | |
| 9 | g.104825883A>T | CA374321509 | ABCA1 | c.2342T>A (p.Leu781Gln) n.515T>A c.2162T>A (p.Leu721Gln) c.2417T>A (p.Leu806Gln) c.1979T>A (p.Leu660Gln) c.2279T>A (p.Leu760Gln) n.2730T>A | |
| 9 | g.104825884G>A | CA197392992 | ABCA1 | c.2341C>T (p.Leu781=) n.514C>T c.2161C>T (p.Leu721=) c.2416C>T (p.Leu806=) c.1978C>T (p.Leu660=) c.2278C>T (p.Leu760=) n.2729C>T | dbSNP |
| 9 | g.104825884G>C | CA374321510 | ABCA1 | c.2341C>G (p.Leu781Val) n.514C>G c.2161C>G (p.Leu721Val) c.2416C>G (p.Leu806Val) c.1978C>G (p.Leu660Val) c.2278C>G (p.Leu760Val) n.2729C>G | |
| 9 | g.104825884G= | CA1869915220 | ABCA1 | c.2341C= (p.Leu781=) n.514C= c.2161C= (p.Leu721=) c.2416C= (p.Leu806=) c.1978C= (p.Leu660=) c.2278C= (p.Leu760=) n.2729C= | |
| 9 | g.104825884G>T | CA374321511 | ABCA1 | c.2341C>A (p.Leu781Met) n.514C>A c.2161C>A (p.Leu721Met) c.2416C>A (p.Leu806Met) c.1978C>A (p.Leu660Met) c.2278C>A (p.Leu760Met) n.2729C>A | |
| 9 | g.104825885G>A | CA466507007 | ABCA1 | c.2340C>T (p.Ser780=) n.513C>T c.2160C>T (p.Ser720=) c.2415C>T (p.Ser805=) c.1977C>T (p.Ser659=) c.2277C>T (p.Ser759=) n.2728C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825885G>C | CA374321512 | ABCA1 | c.2340C>G (p.Ser780Arg) n.513C>G c.2160C>G (p.Ser720Arg) c.2415C>G (p.Ser805Arg) c.1977C>G (p.Ser659Arg) c.2277C>G (p.Ser759Arg) n.2728C>G | |
| 9 | g.104825885G= | CA1869915225 | ABCA1 | c.2340C= (p.Ser780=) n.513C= c.2160C= (p.Ser720=) c.2415C= (p.Ser805=) c.1977C= (p.Ser659=) c.2277C= (p.Ser759=) n.2728C= | |
| 9 | g.104825885G>T | CA374321513 | ABCA1 | c.2340C>A (p.Ser780Arg) n.513C>A c.2160C>A (p.Ser720Arg) c.2415C>A (p.Ser805Arg) c.1977C>A (p.Ser659Arg) c.2277C>A (p.Ser759Arg) n.2728C>A | |
| 9 | g.104825886C>A | CA374321514 | ABCA1 | c.2339G>T (p.Ser780Ile) n.512G>T c.2159G>T (p.Ser720Ile) c.2414G>T (p.Ser805Ile) c.1976G>T (p.Ser659Ile) c.2276G>T (p.Ser759Ile) n.2727G>T | |
| 9 | g.104825886C= | CA1869915227 | ABCA1 | c.2339G= (p.Ser780=) n.512G= c.2159G= (p.Ser720=) c.2414G= (p.Ser805=) c.1976G= (p.Ser659=) c.2276G= (p.Ser759=) n.2727G= | |
| 9 | g.104825886C>G | CA5168745 | ABCA1 | c.2339G>C (p.Ser780Thr) n.512G>C c.2159G>C (p.Ser720Thr) c.2414G>C (p.Ser805Thr) c.1976G>C (p.Ser659Thr) c.2276G>C (p.Ser759Thr) n.2727G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825886C>T | CA197393000 | ABCA1 | c.2339G>A (p.Ser780Asn) n.512G>A c.2159G>A (p.Ser720Asn) c.2414G>A (p.Ser805Asn) c.1976G>A (p.Ser659Asn) c.2276G>A (p.Ser759Asn) n.2727G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 9 | g.104825887T>A | CA374321515 | ABCA1 | c.2338A>T (p.Ser780Cys) n.511A>T c.2158A>T (p.Ser720Cys) c.2413A>T (p.Ser805Cys) c.1975A>T (p.Ser659Cys) c.2275A>T (p.Ser759Cys) n.2726A>T | |
| 9 | g.104825887T>C | CA374321516 | ABCA1 | c.2338A>G (p.Ser780Gly) n.511A>G c.2158A>G (p.Ser720Gly) c.2413A>G (p.Ser805Gly) c.1975A>G (p.Ser659Gly) c.2275A>G (p.Ser759Gly) n.2726A>G | |
| 9 | g.104825887T>G | CA374321517 | ABCA1 | c.2338A>C (p.Ser780Arg) n.511A>C c.2158A>C (p.Ser720Arg) c.2413A>C (p.Ser805Arg) c.1975A>C (p.Ser659Arg) c.2275A>C (p.Ser759Arg) n.2726A>C | |
| 9 | g.104825888C>A | CA374321518 | ABCA1 | c.2338-1G>T (n.2338-1G>T) n.511-1G>T c.2158-1G>T (n.2158-1G>T) c.2413-1G>T (n.2413-1G>T) c.1975-1G>T (n.1975-1G>T) c.2275-1G>T (n.2275-1G>T) n.2726-1G>T | |
| 9 | g.104825888C>G | CA374321519 | ABCA1 | c.2338-1G>C (n.2338-1G>C) n.511-1G>C c.2158-1G>C (n.2158-1G>C) c.2413-1G>C (n.2413-1G>C) c.1975-1G>C (n.1975-1G>C) c.2275-1G>C (n.2275-1G>C) n.2726-1G>C | |
| 9 | g.104825888C>T | CA374321520 | ABCA1 | c.2338-1G>A (n.2338-1G>A) n.511-1G>A c.2158-1G>A (n.2158-1G>A) c.2413-1G>A (n.2413-1G>A) c.1975-1G>A (n.1975-1G>A) c.2275-1G>A (n.2275-1G>A) n.2726-1G>A | |
| 9 | g.104825888_104825890delinsCTG | CA1869915234 | ABCA1 | c.2338-3_2338-1delinsCAG (n.2338-3_2338-1delinsCAG) n.511-3_511-1delinsCAG c.2158-3_2158-1delinsCAG (n.2158-3_2158-1delinsCAG) c.2413-3_2413-1delinsCAG (n.2413-3_2413-1delinsCAG) c.1975-3_1975-1delinsCAG (n.1975-3_1975-1delinsCAG) c.2275-3_2275-1delinsCAG (n.2275-3_2275-1delinsCAG) n.2726-3_2726-1delinsCAG | |
| 9 | g.104825889T>A | CA374321521 | ABCA1 | c.2338-2A>T (n.2338-2A>T) n.511-2A>T c.2158-2A>T (n.2158-2A>T) c.2413-2A>T (n.2413-2A>T) c.1975-2A>T (n.1975-2A>T) c.2275-2A>T (n.2275-2A>T) n.2726-2A>T | |
| 9 | g.104825889T>C | CA374321522 | ABCA1 | c.2338-2A>G (n.2338-2A>G) n.511-2A>G c.2158-2A>G (n.2158-2A>G) c.2413-2A>G (n.2413-2A>G) c.1975-2A>G (n.1975-2A>G) c.2275-2A>G (n.2275-2A>G) n.2726-2A>G | |
| 9 | g.104825889T>G | CA374321523 | ABCA1 | c.2338-2A>C (n.2338-2A>C) n.511-2A>C c.2158-2A>C (n.2158-2A>C) c.2413-2A>C (n.2413-2A>C) c.1975-2A>C (n.1975-2A>C) c.2275-2A>C (n.2275-2A>C) n.2726-2A>C | |
| 9 | g.104825891_104825892del | CA5168746 | ABCA1 | c.2338-3_2338-2del (n.2338-3_2338-2del) n.511-3_511-2del c.2158-3_2158-2del (n.2158-3_2158-2del) c.2413-3_2413-2del (n.2413-3_2413-2del) c.1975-3_1975-2del (n.1975-3_1975-2del) c.2275-3_2275-2del (n.2275-3_2275-2del) n.2726-3_2726-2del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825890G>T | CA2691055771 | ABCA1 | c.2338-3C>A (n.2338-3C>A) n.511-3C>A c.2158-3C>A (n.2158-3C>A) c.2413-3C>A (n.2413-3C>A) c.1975-3C>A (n.1975-3C>A) c.2275-3C>A (n.2275-3C>A) n.2726-3C>A | gnomAD v4 |
| 9 | g.104825891T>C | CA858046982 | ABCA1 | c.2338-4A>G (n.2338-4A>G) n.511-4A>G c.2158-4A>G (n.2158-4A>G) c.2413-4A>G (n.2413-4A>G) c.1975-4A>G (n.1975-4A>G) c.2275-4A>G (n.2275-4A>G) n.2726-4A>G | dbSNP |
| 9 | g.104825891T= | CA1869915239 | ABCA1 | c.2338-4A= (n.2338-4A=) n.511-4A= c.2158-4A= (n.2158-4A=) c.2413-4A= (n.2413-4A=) c.1975-4A= (n.1975-4A=) c.2275-4A= (n.2275-4A=) n.2726-4A= | |
| 9 | g.104825892G= | CA1869915241 | ABCA1 | c.2338-5C= (n.2338-5C=) n.511-5C= c.2158-5C= (n.2158-5C=) c.2413-5C= (n.2413-5C=) c.1975-5C= (n.1975-5C=) c.2275-5C= (n.2275-5C=) n.2726-5C= | |
| 9 | g.104825892G>T | CA1869915243 | ABCA1 | c.2338-5C>A (n.2338-5C>A) n.511-5C>A c.2158-5C>A (n.2158-5C>A) c.2413-5C>A (n.2413-5C>A) c.1975-5C>A (n.1975-5C>A) c.2275-5C>A (n.2275-5C>A) n.2726-5C>A | dbSNP |
| 9 | g.104825896A>G | CA2579406864 | ABCA1 | c.2338-9T>C (n.2338-9T>C) n.511-9T>C c.2158-9T>C (n.2158-9T>C) c.2413-9T>C (n.2413-9T>C) c.1975-9T>C (n.1975-9T>C) c.2275-9T>C (n.2275-9T>C) n.2726-9T>C | gnomAD v4 |
| 9 | g.104825898C>A | CA5168747 | ABCA1 | c.2338-11G>T (n.2338-11G>T) n.511-11G>T c.2158-11G>T (n.2158-11G>T) c.2413-11G>T (n.2413-11G>T) c.1975-11G>T (n.1975-11G>T) c.2275-11G>T (n.2275-11G>T) n.2726-11G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825898C= | CA1869915246 | ABCA1 | c.2338-11G= (n.2338-11G=) n.511-11G= c.2158-11G= (n.2158-11G=) c.2413-11G= (n.2413-11G=) c.1975-11G= (n.1975-11G=) c.2275-11G= (n.2275-11G=) n.2726-11G= | |
| 9 | g.104825898C>G | CA1127660741 | ABCA1 | c.2338-11G>C (n.2338-11G>C) n.511-11G>C c.2158-11G>C (n.2158-11G>C) c.2413-11G>C (n.2413-11G>C) c.1975-11G>C (n.1975-11G>C) c.2275-11G>C (n.2275-11G>C) n.2726-11G>C | dbSNP gnomAD v3 gnomAD v4 |
| 9 | g.104825900G>A | CA2579406865 | ABCA1 | c.2338-13C>T (n.2338-13C>T) n.511-13C>T c.2158-13C>T (n.2158-13C>T) c.2413-13C>T (n.2413-13C>T) c.1975-13C>T (n.1975-13C>T) c.2275-13C>T (n.2275-13C>T) n.2726-13C>T | |
| 9 | g.104825901G>A | CA1869915251 | ABCA1 | c.2338-14C>T (n.2338-14C>T) n.511-14C>T c.2158-14C>T (n.2158-14C>T) c.2413-14C>T (n.2413-14C>T) c.1975-14C>T (n.1975-14C>T) c.2275-14C>T (n.2275-14C>T) n.2726-14C>T | dbSNP |
| 9 | g.104825901G= | CA1869915250 | ABCA1 | c.2338-14C= (n.2338-14C=) n.511-14C= c.2158-14C= (n.2158-14C=) c.2413-14C= (n.2413-14C=) c.1975-14C= (n.1975-14C=) c.2275-14C= (n.2275-14C=) n.2726-14C= | |
| 9 | g.104825902C>T | CA2691055772 | ABCA1 | c.2338-15G>A (n.2338-15G>A) n.511-15G>A c.2158-15G>A (n.2158-15G>A) c.2413-15G>A (n.2413-15G>A) c.1975-15G>A (n.1975-15G>A) c.2275-15G>A (n.2275-15G>A) n.2726-15G>A | gnomAD v4 |
| 9 | g.104825903A>G | CA2691055773 | ABCA1 | c.2338-16T>C (n.2338-16T>C) n.511-16T>C c.2158-16T>C (n.2158-16T>C) c.2413-16T>C (n.2413-16T>C) c.1975-16T>C (n.1975-16T>C) c.2275-16T>C (n.2275-16T>C) n.2726-16T>C | gnomAD v4 |
| 9 | g.104825904A= | CA1869915255 | ABCA1 | c.2338-17T= (n.2338-17T=) n.511-17T= c.2158-17T= (n.2158-17T=) c.2413-17T= (n.2413-17T=) c.1975-17T= (n.1975-17T=) c.2275-17T= (n.2275-17T=) n.2726-17T= | |
| 9 | g.104825904A>C | CA1869915256 | ABCA1 | c.2338-17T>G (n.2338-17T>G) n.511-17T>G c.2158-17T>G (n.2158-17T>G) c.2413-17T>G (n.2413-17T>G) c.1975-17T>G (n.1975-17T>G) c.2275-17T>G (n.2275-17T>G) n.2726-17T>G | dbSNP gnomAD v4 |
| 9 | g.104825904A>G | CA5168748 | ABCA1 | c.2338-17T>C (n.2338-17T>C) n.511-17T>C c.2158-17T>C (n.2158-17T>C) c.2413-17T>C (n.2413-17T>C) c.1975-17T>C (n.1975-17T>C) c.2275-17T>C (n.2275-17T>C) n.2726-17T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 9 | g.104825905A= | CA1869915259 | ABCA1 | c.2338-18T= (n.2338-18T=) n.511-18T= c.2158-18T= (n.2158-18T=) c.2413-18T= (n.2413-18T=) c.1975-18T= (n.1975-18T=) c.2275-18T= (n.2275-18T=) n.2726-18T= | |
| 9 | g.104825905A>C | CA1869915261 | ABCA1 | c.2338-18T>G (n.2338-18T>G) n.511-18T>G c.2158-18T>G (n.2158-18T>G) c.2413-18T>G (n.2413-18T>G) c.1975-18T>G (n.1975-18T>G) c.2275-18T>G (n.2275-18T>G) n.2726-18T>G | dbSNP gnomAD v4 |
| 9 | g.104825908C= | CA1869915263 | ABCA1 | c.2338-21G= (n.2338-21G=) n.511-21G= c.2158-21G= (n.2158-21G=) c.2413-21G= (n.2413-21G=) c.1975-21G= (n.1975-21G=) c.2275-21G= (n.2275-21G=) n.2726-21G= | |
| 9 | g.104825908C>T | CA197393029 | ABCA1 | c.2338-21G>A (n.2338-21G>A) n.511-21G>A c.2158-21G>A (n.2158-21G>A) c.2413-21G>A (n.2413-21G>A) c.1975-21G>A (n.1975-21G>A) c.2275-21G>A (n.2275-21G>A) n.2726-21G>A | dbSNP gnomAD v4 |
| 9 | g.104825909A= | CA1869915266 | ABCA1 | c.2338-22T= (n.2338-22T=) n.511-22T= c.2158-22T= (n.2158-22T=) c.2413-22T= (n.2413-22T=) c.1975-22T= (n.1975-22T=) c.2275-22T= (n.2275-22T=) n.2726-22T= | |
| 9 | g.104825909A>G | CA589839814 | ABCA1 | c.2338-22T>C (n.2338-22T>C) n.511-22T>C c.2158-22T>C (n.2158-22T>C) c.2413-22T>C (n.2413-22T>C) c.1975-22T>C (n.1975-22T>C) c.2275-22T>C (n.2275-22T>C) n.2726-22T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |