OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2289467_2289469del | CA7840751 | ABCA3 | c.2671_2673del (p.Glu891del) c.2497_2499del (p.Glu833del) n.3234_3236del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289466C>A | CA394324726 | ABCA3 | c.2668G>T (p.Glu890Ter) c.2494G>T (p.Glu832Ter) n.3231G>T | gnomAD v4 |
| 16 | g.2289466C>G | CA394324728 | ABCA3 | c.2668G>C (p.Glu890Gln) c.2494G>C (p.Glu832Gln) n.3231G>C | |
| 16 | g.2289466C>T | CA394324729 | ABCA3 | c.2668G>A (p.Glu890Lys) c.2494G>A (p.Glu832Lys) n.3231G>A | gnomAD v4 |
| 16 | g.2289467C>A | CA394324730 | ABCA3 | c.2667G>T (p.Glu889Asp) c.2493G>T (p.Glu831Asp) n.3230G>T | gnomAD v4 |
| 16 | g.2289467C= | CA2202153061 | ABCA3 | c.2667G= (p.Glu889=) c.2493G= (p.Glu831=) n.3230G= | |
| 16 | g.2289467C>G | CA394324732 | ABCA3 | c.2667G>C (p.Glu889Asp) c.2493G>C (p.Glu831Asp) n.3230G>C | |
| 16 | g.2289467C>T | CA493135437 | ABCA3 | c.2667G>A (p.Glu889=) c.2493G>A (p.Glu831=) n.3230G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.2289468T>A | CA394324735 | ABCA3 | c.2666A>T (p.Glu889Val) c.2492A>T (p.Glu831Val) n.3229A>T | |
| 16 | g.2289468T>C | CA394324740 | ABCA3 | c.2666A>G (p.Glu889Gly) c.2492A>G (p.Glu831Gly) n.3229A>G | dbSNP gnomAD v2 |
| 16 | g.2289468T>G | CA394324737 | ABCA3 | c.2666A>C (p.Glu889Ala) c.2492A>C (p.Glu831Ala) n.3229A>C | |
| 16 | g.2289468T= | CA2202153062 | ABCA3 | c.2666A= (p.Glu889=) c.2492A= (p.Glu831=) n.3229A= | |
| 16 | g.2289469C>A | CA394324742 | ABCA3 | c.2665G>T (p.Glu889Ter) c.2491G>T (p.Glu831Ter) n.3228G>T | gnomAD v4 |
| 16 | g.2289469C= | CA2202153063 | ABCA3 | c.2665G= (p.Glu889=) c.2491G= (p.Glu831=) n.3228G= | |
| 16 | g.2289469C>G | CA394324744 | ABCA3 | c.2665G>C (p.Glu889Gln) c.2491G>C (p.Glu831Gln) n.3228G>C | gnomAD v4 |
| 16 | g.2289469C>T | CA394324743 | ABCA3 | c.2665G>A (p.Glu889Lys) c.2491G>A (p.Glu831Lys) n.3228G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289470G>A | CA7840754 | ABCA3 | c.2664C>T (p.Ile888=) c.2490C>T (p.Ile830=) n.3227C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289470G>C | CA394324748 | ABCA3 | c.2664C>G (p.Ile888Met) c.2490C>G (p.Ile830Met) n.3227C>G | dbSNP |
| 16 | g.2289470G= | CA2202153064 | ABCA3 | c.2664C= (p.Ile888=) c.2490C= (p.Ile830=) n.3227C= | |
| 16 | g.2289470G>T | CA493135492 | ABCA3 | c.2664C>A (p.Ile888=) c.2490C>A (p.Ile830=) n.3227C>A | gnomAD v4 |
| 16 | g.2289471A>C | CA394324751 | ABCA3 | c.2663T>G (p.Ile888Ser) c.2489T>G (p.Ile830Ser) n.3226T>G | |
| 16 | g.2289471A>G | CA394324753 | ABCA3 | c.2663T>C (p.Ile888Thr) c.2489T>C (p.Ile830Thr) n.3226T>C | COSMIC |
| 16 | g.2289471A>T | CA394324756 | ABCA3 | c.2663T>A (p.Ile888Asn) c.2489T>A (p.Ile830Asn) n.3226T>A | |
| 16 | g.2289472T>A | CA394324758 | ABCA3 | c.2662A>T (p.Ile888Phe) c.2488A>T (p.Ile830Phe) n.3225A>T | |
| 16 | g.2289472T>C | CA394324760 | ABCA3 | c.2662A>G (p.Ile888Val) c.2488A>G (p.Ile830Val) n.3225A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289472T>G | CA394324763 | ABCA3 | c.2662A>C (p.Ile888Leu) c.2488A>C (p.Ile830Leu) n.3225A>C | dbSNP |
| 16 | g.2289472T= | CA2202153065 | ABCA3 | c.2662A= (p.Ile888=) c.2488A= (p.Ile830=) n.3225A= | |
| 16 | g.2289473G>A | CA493135533 | ABCA3 | c.2661C>T (p.Leu887=) c.2487C>T (p.Leu829=) n.3224C>T | dbSNP gnomAD v2 |
| 16 | g.2289473G>C | CA493135537 | ABCA3 | c.2661C>G (p.Leu887=) c.2487C>G (p.Leu829=) n.3224C>G | |
| 16 | g.2289473G= | CA2202153066 | ABCA3 | c.2661C= (p.Leu887=) c.2487C= (p.Leu829=) n.3224C= | |
| 16 | g.2289473G>T | CA493135543 | ABCA3 | c.2661C>A (p.Leu887=) c.2487C>A (p.Leu829=) n.3224C>A | gnomAD v4 |
| 16 | g.2289474A>C | CA394324766 | ABCA3 | c.2660T>G (p.Leu887Arg) c.2486T>G (p.Leu829Arg) n.3223T>G | |
| 16 | g.2289474A>G | CA394324769 | ABCA3 | c.2660T>C (p.Leu887Pro) c.2486T>C (p.Leu829Pro) n.3223T>C | gnomAD v4 |
| 16 | g.2289474A>T | CA394324772 | ABCA3 | c.2660T>A (p.Leu887His) c.2486T>A (p.Leu829His) n.3223T>A | |
| 16 | g.2289475G>A | CA10648064 | ABCA3 | c.2659C>T (p.Leu887Phe) c.2485C>T (p.Leu829Phe) n.3222C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289475G>C | CA394324777 | ABCA3 | c.2659C>G (p.Leu887Val) c.2485C>G (p.Leu829Val) n.3222C>G | |
| 16 | g.2289475G= | CA2202153067 | ABCA3 | c.2659C= (p.Leu887=) c.2485C= (p.Leu829=) n.3222C= | |
| 16 | g.2289475G>T | CA394324775 | ABCA3 | c.2659C>A (p.Leu887Ile) c.2485C>A (p.Leu829Ile) n.3222C>A | gnomAD v4 |
| 16 | g.2289477del | CA2631185802 | ABCA3 | c.2659del (p.Leu887SerfsTer27) c.2485del (p.Leu829SerfsTer27) n.3222del | gnomAD v4 |
| 16 | g.2289476G>A | CA493135577 | ABCA3 | c.2658C>T (p.Ala886=) c.2484C>T (p.Ala828=) n.3221C>T | gnomAD v4 |
| 16 | g.2289476G>C | CA493135578 | ABCA3 | c.2658C>G (p.Ala886=) c.2484C>G (p.Ala828=) n.3221C>G | |
| 16 | g.2289476G>T | CA493135584 | ABCA3 | c.2658C>A (p.Ala886=) c.2484C>A (p.Ala828=) n.3221C>A | gnomAD v4 |
| 16 | g.2289477G>A | CA394324781 | ABCA3 | c.2657C>T (p.Ala886Val) c.2483C>T (p.Ala828Val) n.3220C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289477G>C | CA394324783 | ABCA3 | c.2657C>G (p.Ala886Gly) c.2483C>G (p.Ala828Gly) n.3220C>G | |
| 16 | g.2289477G= | CA2202153068 | ABCA3 | c.2657C= (p.Ala886=) c.2483C= (p.Ala828=) n.3220C= | |
| 16 | g.2289477G>T | CA394324785 | ABCA3 | c.2657C>A (p.Ala886Asp) c.2483C>A (p.Ala828Asp) n.3220C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289478C>A | CA394324787 | ABCA3 | c.2656G>T (p.Ala886Ser) c.2482G>T (p.Ala828Ser) n.3219G>T | gnomAD v4 |
| 16 | g.2289478C= | CA2202153069 | ABCA3 | c.2656G= (p.Ala886=) c.2482G= (p.Ala828=) n.3219G= | |
| 16 | g.2289478C>G | CA394324788 | ABCA3 | c.2656G>C (p.Ala886Pro) c.2482G>C (p.Ala828Pro) n.3219G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289478C>T | CA276825498 | ABCA3 | c.2656G>A (p.Ala886Thr) c.2482G>A (p.Ala828Thr) n.3219G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.2289479T>A | CA493135604 | ABCA3 | c.2655A>T (p.Gly885=) c.2481A>T (p.Gly827=) n.3218A>T | |
| 16 | g.2289479T>C | CA493135617 | ABCA3 | c.2655A>G (p.Gly885=) c.2481A>G (p.Gly827=) n.3218A>G | gnomAD v4 |
| 16 | g.2289479T>G | CA493135619 | ABCA3 | c.2655A>C (p.Gly885=) c.2481A>C (p.Gly827=) n.3218A>C | |
| 16 | g.2289480C>A | CA394324791 | ABCA3 | c.2654G>T (p.Gly885Val) c.2480G>T (p.Gly827Val) n.3217G>T | gnomAD v4 |
| 16 | g.2289480C>G | CA394324794 | ABCA3 | c.2654G>C (p.Gly885Ala) c.2480G>C (p.Gly827Ala) n.3217G>C | |
| 16 | g.2289480C>T | CA394324795 | ABCA3 | c.2654G>A (p.Gly885Glu) c.2480G>A (p.Gly827Glu) n.3217G>A | |
| 16 | g.2289480_2289481delinsTT | CA645592104 | ABCA3 | c.2653_2654delinsAA (p.Gly885Lys) c.2479_2480delinsAA (p.Gly827Lys) n.3216_3217delinsAA | COSMIC |
| 16 | g.2289481C>A | CA394324798 | ABCA3 | c.2653G>T (p.Gly885Ter) c.2479G>T (p.Gly827Ter) n.3216G>T | gnomAD v4 |
| 16 | g.2289481C= | CA2202153070 | ABCA3 | c.2653G= (p.Gly885=) c.2479G= (p.Gly827=) n.3216G= | |
| 16 | g.2289481C>G | CA394324800 | ABCA3 | c.2653G>C (p.Gly885Arg) c.2479G>C (p.Gly827Arg) n.3216G>C | |
| 16 | g.2289481C>T | CA394324805 | ABCA3 | c.2653G>A (p.Gly885Arg) c.2479G>A (p.Gly827Arg) n.3216G>A | dbSNP gnomAD v2 |
| 16 | g.2289482A>C | CA394324807 | ABCA3 | c.2652T>G (p.Ile884Met) c.2478T>G (p.Ile826Met) n.3215T>G | |
| 16 | g.2289482A>G | CA493135646 | ABCA3 | c.2652T>C (p.Ile884=) c.2478T>C (p.Ile826=) n.3215T>C | gnomAD v4 |
| 16 | g.2289482A>T | CA493135658 | ABCA3 | c.2652T>A (p.Ile884=) c.2478T>A (p.Ile826=) n.3215T>A | |
| 16 | g.2289483A>C | CA394324816 | ABCA3 | c.2651T>G (p.Ile884Ser) c.2477T>G (p.Ile826Ser) n.3214T>G | |
| 16 | g.2289483A>G | CA394324811 | ABCA3 | c.2651T>C (p.Ile884Thr) c.2477T>C (p.Ile826Thr) n.3214T>C | gnomAD v4 |
| 16 | g.2289483A>T | CA394324812 | ABCA3 | c.2651T>A (p.Ile884Asn) c.2477T>A (p.Ile826Asn) n.3214T>A | |
| 16 | g.2289484T>A | CA394324818 | ABCA3 | c.2650A>T (p.Ile884Phe) c.2476A>T (p.Ile826Phe) n.3213A>T | |
| 16 | g.2289484T>C | CA7840755 | ABCA3 | c.2650A>G (p.Ile884Val) c.2476A>G (p.Ile826Val) n.3213A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289484T>G | CA394324822 | ABCA3 | c.2650A>C (p.Ile884Leu) c.2476A>C (p.Ile826Leu) n.3213A>C | |
| 16 | g.2289484T= | CA2202153071 | ABCA3 | c.2650A= (p.Ile884=) c.2476A= (p.Ile826=) n.3213A= | |
| 16 | g.2289485G>A | CA493135707 | ABCA3 | c.2649C>T (p.Gly883=) c.2475C>T (p.Gly825=) n.3212C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289485G>C | CA493135713 | ABCA3 | c.2649C>G (p.Gly883=) c.2475C>G (p.Gly825=) n.3212C>G | |
| 16 | g.2289485G= | CA2202153072 | ABCA3 | c.2649C= (p.Gly883=) c.2475C= (p.Gly825=) n.3212C= | |
| 16 | g.2289485G>T | CA493135710 | ABCA3 | c.2649C>A (p.Gly883=) c.2475C>A (p.Gly825=) n.3212C>A | gnomAD v4 |
| 16 | g.2289486C>A | CA394324825 | ABCA3 | c.2648G>T (p.Gly883Val) c.2474G>T (p.Gly825Val) n.3211G>T | gnomAD v4 |
| 16 | g.2289486C>G | CA394324826 | ABCA3 | c.2648G>C (p.Gly883Ala) c.2474G>C (p.Gly825Ala) n.3211G>C | |
| 16 | g.2289486C>T | CA394324827 | ABCA3 | c.2648G>A (p.Gly883Asp) c.2474G>A (p.Gly825Asp) n.3211G>A | gnomAD v4 |
| 16 | g.2289487C>A | CA394324828 | ABCA3 | c.2647G>T (p.Gly883Cys) c.2473G>T (p.Gly825Cys) n.3210G>T | gnomAD v4 COSMIC |
| 16 | g.2289487C= | CA2202153073 | ABCA3 | c.2647G= (p.Gly883=) c.2473G= (p.Gly825=) n.3210G= | |
| 16 | g.2289487C>G | CA394324829 | ABCA3 | c.2647G>C (p.Gly883Arg) c.2473G>C (p.Gly825Arg) n.3210G>C | |
| 16 | g.2289487C>T | CA7840756 | ABCA3 | c.2647G>A (p.Gly883Ser) c.2473G>A (p.Gly825Ser) n.3210G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289488G>A | CA7840757 | ABCA3 | c.2646C>T (p.Asp882=) c.2472C>T (p.Asp824=) n.3209C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289488G>C | CA394324834 | ABCA3 | c.2646C>G (p.Asp882Glu) c.2472C>G (p.Asp824Glu) n.3209C>G | |
| 16 | g.2289488G= | CA2202153074 | ABCA3 | c.2646C= (p.Asp882=) c.2472C= (p.Asp824=) n.3209C= | |
| 16 | g.2289488G>T | CA394324831 | ABCA3 | c.2646C>A (p.Asp882Glu) c.2472C>A (p.Asp824Glu) n.3209C>A | gnomAD v4 |
| 16 | g.2289488dup | CA394324837 | ABCA3 | c.2646dup (p.Gly883ArgfsTer?) c.2472dup (p.Gly825ArgfsTer?) n.3209dup | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289489T>A | CA394324840 | ABCA3 | c.2645A>T (p.Asp882Val) c.2471A>T (p.Asp824Val) n.3208A>T | |
| 16 | g.2289489T>C | CA394324842 | ABCA3 | c.2645A>G (p.Asp882Gly) c.2471A>G (p.Asp824Gly) n.3208A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289489T>G | CA394324844 | ABCA3 | c.2645A>C (p.Asp882Ala) c.2471A>C (p.Asp824Ala) n.3208A>C | |
| 16 | g.2289489T= | CA2202153075 | ABCA3 | c.2645A= (p.Asp882=) c.2471A= (p.Asp824=) n.3208A= | |
| 16 | g.2289490del | CA2631185805 | ABCA3 | c.2644del (p.Asp882ThrfsTer?) c.2470del (p.Asp824ThrfsTer?) n.3207del | gnomAD v4 |
| 16 | g.2289490C>A | CA394324847 | ABCA3 | c.2644G>T (p.Asp882Tyr) c.2470G>T (p.Asp824Tyr) n.3207G>T | gnomAD v4 |
| 16 | g.2289490C= | CA2202153076 | ABCA3 | c.2644G= (p.Asp882=) c.2470G= (p.Asp824=) n.3207G= | |
| 16 | g.2289490C>G | CA394324850 | ABCA3 | c.2644G>C (p.Asp882His) c.2470G>C (p.Asp824His) n.3207G>C | |
| 16 | g.2289490C>T | CA7840758 | ABCA3 | c.2644G>A (p.Asp882Asn) c.2470G>A (p.Asp824Asn) n.3207G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289491G>A | CA7840759 | ABCA3 | c.2643C>T (p.Ser881=) c.2469C>T (p.Ser823=) n.3206C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289491G>C | CA493135792 | ABCA3 | c.2643C>G (p.Ser881=) c.2469C>G (p.Ser823=) n.3206C>G | |
| 16 | g.2289491G= | CA2202153077 | ABCA3 | c.2643C= (p.Ser881=) c.2469C= (p.Ser823=) n.3206C= | |
| 16 | g.2289491G>T | CA493135806 | ABCA3 | c.2643C>A (p.Ser881=) c.2469C>A (p.Ser823=) n.3206C>A | |
| 16 | g.2289492G>A | CA394324857 | ABCA3 | c.2642C>T (p.Ser881Phe) c.2468C>T (p.Ser823Phe) n.3205C>T | |
| 16 | g.2289492G>C | CA394324861 | ABCA3 | c.2642C>G (p.Ser881Cys) c.2468C>G (p.Ser823Cys) n.3205C>G | |
| 16 | g.2289492G>T | CA394324862 | ABCA3 | c.2642C>A (p.Ser881Tyr) c.2468C>A (p.Ser823Tyr) n.3205C>A | gnomAD v4 |
| 16 | g.2289493A= | CA2202153078 | ABCA3 | c.2641T= (p.Ser881=) c.2467T= (p.Ser823=) n.3204T= | |
| 16 | g.2289493A>C | CA394324864 | ABCA3 | c.2641T>G (p.Ser881Ala) c.2467T>G (p.Ser823Ala) n.3204T>G | |
| 16 | g.2289493A>G | CA394324866 | ABCA3 | c.2641T>C (p.Ser881Pro) c.2467T>C (p.Ser823Pro) n.3204T>C | gnomAD v4 |
| 16 | g.2289493A>T | CA7840760 | ABCA3 | c.2641T>A (p.Ser881Thr) c.2467T>A (p.Ser823Thr) n.3204T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289494G>A | CA493135860 | ABCA3 | c.2640C>T (p.Pro880=) c.2466C>T (p.Pro822=) n.3203C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289494G>C | CA493135863 | ABCA3 | c.2640C>G (p.Pro880=) c.2466C>G (p.Pro822=) n.3203C>G | |
| 16 | g.2289494G= | CA2202153079 | ABCA3 | c.2640C= (p.Pro880=) c.2466C= (p.Pro822=) n.3203C= | |
| 16 | g.2289494G>T | CA493135864 | ABCA3 | c.2640C>A (p.Pro880=) c.2466C>A (p.Pro822=) n.3203C>A | gnomAD v4 |
| 16 | g.2289496_2289497dup | CA2631185806 | ABCA3 | c.2639_2640dup (p.Ser881ProfsTer?) c.2465_2466dup (p.Ser823ProfsTer?) n.3202_3203dup | gnomAD v4 |
| 16 | g.2289495G>A | CA394324875 | ABCA3 | c.2639C>T (p.Pro880Leu) c.2465C>T (p.Pro822Leu) n.3202C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289495G>C | CA394324872 | ABCA3 | c.2639C>G (p.Pro880Arg) c.2465C>G (p.Pro822Arg) n.3202C>G | |
| 16 | g.2289495G= | CA2202153080 | ABCA3 | c.2639C= (p.Pro880=) c.2465C= (p.Pro822=) n.3202C= | |
| 16 | g.2289495G>T | CA394324870 | ABCA3 | c.2639C>A (p.Pro880His) c.2465C>A (p.Pro822His) n.3202C>A | gnomAD v4 |
| 16 | g.2289496G>A | CA394324880 | ABCA3 | c.2638C>T (p.Pro880Ser) c.2464C>T (p.Pro822Ser) n.3201C>T | |
| 16 | g.2289496G>C | CA394324878 | ABCA3 | c.2638C>G (p.Pro880Ala) c.2464C>G (p.Pro822Ala) n.3201C>G | |
| 16 | g.2289496G= | CA2202153082 | ABCA3 | c.2638C= (p.Pro880=) c.2464C= (p.Pro822=) n.3201C= | |
| 16 | g.2289496G>T | CA394324882 | ABCA3 | c.2638C>A (p.Pro880Thr) c.2464C>A (p.Pro822Thr) n.3201C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289496_2289520delinsGGTCCATGGCCCCACAGAGGTTGCT | CA2202153081 | ABCA3 | c.2614_2638delinsAGCAACCTCTGTGGGGCCATGGACC (p.Ser872=) c.2440_2464delinsAGCAACCTCTGTGGGGCCATGGACC (p.Ser814=) n.3177_3201delinsAGCAACCTCTGTGGGGCCATGGACC | |
| 16 | g.2289497G>A | CA493135904 | ABCA3 | c.2637C>T (p.Asp879=) c.2463C>T (p.Asp821=) n.3200C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289497G>C | CA394324886 | ABCA3 | c.2637C>G (p.Asp879Glu) c.2463C>G (p.Asp821Glu) n.3200C>G | gnomAD v4 |
| 16 | g.2289497G= | CA2202153083 | ABCA3 | c.2637C= (p.Asp879=) c.2463C= (p.Asp821=) n.3200C= | |
| 16 | g.2289497G>T | CA394324890 | ABCA3 | c.2637C>A (p.Asp879Glu) c.2463C>A (p.Asp821Glu) n.3200C>A | gnomAD v4 |
| 16 | g.2289502_2289525del | CA7840761 | ABCA3 | c.2614_2637del (p.Ser872_Asp879del) c.2440_2463del (p.Ser814_Asp821del) n.3177_3200del | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289498T>A | CA394324898 | ABCA3 | c.2636A>T (p.Asp879Val) c.2462A>T (p.Asp821Val) n.3199A>T | |
| 16 | g.2289498T>C | CA394324902 | ABCA3 | c.2636A>G (p.Asp879Gly) c.2462A>G (p.Asp821Gly) n.3199A>G | gnomAD v4 |
| 16 | g.2289498T>G | CA394324904 | ABCA3 | c.2636A>C (p.Asp879Ala) c.2462A>C (p.Asp821Ala) n.3199A>C | gnomAD v3 gnomAD v4 |
| 16 | g.2289499C>A | CA394324908 | ABCA3 | c.2635G>T (p.Asp879Tyr) c.2461G>T (p.Asp821Tyr) n.3198G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289499C= | CA2202153084 | ABCA3 | c.2635G= (p.Asp879=) c.2461G= (p.Asp821=) n.3198G= | |
| 16 | g.2289499C>G | CA394324911 | ABCA3 | c.2635G>C (p.Asp879His) c.2461G>C (p.Asp821His) n.3198G>C | |
| 16 | g.2289499C>T | CA394324913 | ABCA3 | c.2635G>A (p.Asp879Asn) c.2461G>A (p.Asp821Asn) n.3198G>A | gnomAD v4 |
| 16 | g.2289500C>A | CA394324916 | ABCA3 | c.2634G>T (p.Met878Ile) c.2460G>T (p.Met820Ile) n.3197G>T | gnomAD v4 |
| 16 | g.2289500C>G | CA394324920 | ABCA3 | c.2634G>C (p.Met878Ile) c.2460G>C (p.Met820Ile) n.3197G>C | |
| 16 | g.2289500C>T | CA394324921 | ABCA3 | c.2634G>A (p.Met878Ile) c.2460G>A (p.Met820Ile) n.3197G>A | gnomAD v4 |
| 16 | g.2289501A= | CA2202153085 | ABCA3 | c.2633T= (p.Met878=) c.2459T= (p.Met820=) n.3196T= | |
| 16 | g.2289501A>C | CA394324924 | ABCA3 | c.2633T>G (p.Met878Arg) c.2459T>G (p.Met820Arg) n.3196T>G | dbSNP |
| 16 | g.2289501A>G | CA7840762 | ABCA3 | c.2633T>C (p.Met878Thr) c.2459T>C (p.Met820Thr) n.3196T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289501A>T | CA394324929 | ABCA3 | c.2633T>A (p.Met878Lys) c.2459T>A (p.Met820Lys) n.3196T>A | |
| 16 | g.2289502del | CA2695221884 | ABCA3 | c.2632del (p.Met878TrpfsTer?) c.2458del (p.Met820TrpfsTer?) n.3195del | |
| 16 | g.2289502T>A | CA394324935 | ABCA3 | c.2632A>T (p.Met878Leu) c.2458A>T (p.Met820Leu) n.3195A>T | |
| 16 | g.2289502T>C | CA394324932 | ABCA3 | c.2632A>G (p.Met878Val) c.2458A>G (p.Met820Val) n.3195A>G | dbSNP gnomAD v4 |
| 16 | g.2289502T>G | CA394324934 | ABCA3 | c.2632A>C (p.Met878Leu) c.2458A>C (p.Met820Leu) n.3195A>C | |
| 16 | g.2289502T= | CA2202153086 | ABCA3 | c.2632A= (p.Met878=) c.2458A= (p.Met820=) n.3195A= | |
| 16 | g.2289503G>A | CA493135980 | ABCA3 | c.2631C>T (p.Ala877=) c.2457C>T (p.Ala819=) n.3194C>T | gnomAD v4 |
| 16 | g.2289503G>C | CA493135986 | ABCA3 | c.2631C>G (p.Ala877=) c.2457C>G (p.Ala819=) n.3194C>G | |
| 16 | g.2289503G>T | CA493135987 | ABCA3 | c.2631C>A (p.Ala877=) c.2457C>A (p.Ala819=) n.3194C>A | gnomAD v4 |
| 16 | g.2289504G>A | CA394324940 | ABCA3 | c.2630C>T (p.Ala877Val) c.2456C>T (p.Ala819Val) n.3193C>T | gnomAD v4 |
| 16 | g.2289504G>C | CA394324942 | ABCA3 | c.2630C>G (p.Ala877Gly) c.2456C>G (p.Ala819Gly) n.3193C>G | |
| 16 | g.2289504G= | CA2202153087 | ABCA3 | c.2630C= (p.Ala877=) c.2456C= (p.Ala819=) n.3193C= | |
| 16 | g.2289504G>T | CA394324943 | ABCA3 | c.2630C>A (p.Ala877Asp) c.2456C>A (p.Ala819Asp) n.3193C>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289505C>A | CA394324947 | ABCA3 | c.2629G>T (p.Ala877Ser) c.2455G>T (p.Ala819Ser) n.3192G>T | gnomAD v4 |
| 16 | g.2289505C= | CA2202153088 | ABCA3 | c.2629G= (p.Ala877=) c.2455G= (p.Ala819=) n.3192G= | |
| 16 | g.2289505C>G | CA394324949 | ABCA3 | c.2629G>C (p.Ala877Pro) c.2455G>C (p.Ala819Pro) n.3192G>C | |
| 16 | g.2289505C>T | CA276825513 | ABCA3 | c.2629G>A (p.Ala877Thr) c.2455G>A (p.Ala819Thr) n.3192G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289506C>A | CA493136027 | ABCA3 | c.2628G>T (p.Gly876=) c.2454G>T (p.Gly818=) n.3191G>T | |
| 16 | g.2289506C= | CA2202153089 | ABCA3 | c.2628G= (p.Gly876=) c.2454G= (p.Gly818=) n.3191G= | |
| 16 | g.2289506C>G | CA493136019 | ABCA3 | c.2628G>C (p.Gly876=) c.2454G>C (p.Gly818=) n.3191G>C | |
| 16 | g.2289506C>T | CA493136021 | ABCA3 | c.2628G>A (p.Gly876=) c.2454G>A (p.Gly818=) n.3191G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.2289507C>A | CA394324952 | ABCA3 | c.2627G>T (p.Gly876Val) c.2453G>T (p.Gly818Val) n.3190G>T | gnomAD v4 |
| 16 | g.2289507C>G | CA394324955 | ABCA3 | c.2627G>C (p.Gly876Ala) c.2453G>C (p.Gly818Ala) n.3190G>C | |
| 16 | g.2289507C>T | CA394324957 | ABCA3 | c.2627G>A (p.Gly876Glu) c.2453G>A (p.Gly818Glu) n.3190G>A | gnomAD v4 |
| 16 | g.2289508C>A | CA394324962 | ABCA3 | c.2626G>T (p.Gly876Trp) c.2452G>T (p.Gly818Trp) n.3189G>T | gnomAD v4 |
| 16 | g.2289508C= | CA2202153090 | ABCA3 | c.2626G= (p.Gly876=) c.2452G= (p.Gly818=) n.3189G= | |
| 16 | g.2289508C>G | CA394324963 | ABCA3 | c.2626G>C (p.Gly876Arg) c.2452G>C (p.Gly818Arg) n.3189G>C | |
| 16 | g.2289508C>T | CA7840763 | ABCA3 | c.2626G>A (p.Gly876Arg) c.2452G>A (p.Gly818Arg) n.3189G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289509A>C | CA394324968 | ABCA3 | c.2625T>G (p.Cys875Trp) c.2451T>G (p.Cys817Trp) n.3188T>G | |
| 16 | g.2289509A>G | CA493136064 | ABCA3 | c.2625T>C (p.Cys875=) c.2451T>C (p.Cys817=) n.3188T>C | gnomAD v4 |
| 16 | g.2289509A>T | CA394324971 | ABCA3 | c.2625T>A (p.Cys875Ter) c.2451T>A (p.Cys817Ter) n.3188T>A | gnomAD v4 |
| 16 | g.2289510C>A | CA394324974 | ABCA3 | c.2624G>T (p.Cys875Phe) c.2450G>T (p.Cys817Phe) n.3187G>T | gnomAD v4 |
| 16 | g.2289510C>G | CA394324977 | ABCA3 | c.2624G>C (p.Cys875Ser) c.2450G>C (p.Cys817Ser) n.3187G>C | |
| 16 | g.2289510C>T | CA394324982 | ABCA3 | c.2624G>A (p.Cys875Tyr) c.2450G>A (p.Cys817Tyr) n.3187G>A | |
| 16 | g.2289511A= | CA2202153091 | ABCA3 | c.2623T= (p.Cys875=) c.2449T= (p.Cys817=) n.3186T= | |
| 16 | g.2289511A>C | CA394324985 | ABCA3 | c.2623T>G (p.Cys875Gly) c.2449T>G (p.Cys817Gly) n.3186T>G | |
| 16 | g.2289511A>G | CA394324987 | ABCA3 | c.2623T>C (p.Cys875Arg) c.2449T>C (p.Cys817Arg) n.3186T>C | gnomAD v4 |
| 16 | g.2289511A>T | CA394324989 | ABCA3 | c.2623T>A (p.Cys875Ser) c.2449T>A (p.Cys817Ser) n.3186T>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289511_2289513del | CA2631185808 | ABCA3 | c.2621_2623del (p.Leu874_Cys875delinsArg) c.2447_2449del (p.Leu816_Cys817delinsArg) n.3184_3186del | gnomAD v4 |
| 16 | g.2289512G>A | CA7840764 | ABCA3 | c.2622C>T (p.Leu874=) c.2448C>T (p.Leu816=) n.3185C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289512G>C | CA493136116 | ABCA3 | c.2622C>G (p.Leu874=) c.2448C>G (p.Leu816=) n.3185C>G | |
| 16 | g.2289512G= | CA2202153092 | ABCA3 | c.2622C= (p.Leu874=) c.2448C= (p.Leu816=) n.3185C= | |
| 16 | g.2289512G>T | CA493136117 | ABCA3 | c.2622C>A (p.Leu874=) c.2448C>A (p.Leu816=) n.3185C>A | gnomAD v4 COSMIC |
| 16 | g.2289513A>C | CA394324992 | ABCA3 | c.2621T>G (p.Leu874Arg) c.2447T>G (p.Leu816Arg) n.3184T>G | |
| 16 | g.2289513A>G | CA394324995 | ABCA3 | c.2621T>C (p.Leu874Pro) c.2447T>C (p.Leu816Pro) n.3184T>C | gnomAD v4 |
| 16 | g.2289513A>T | CA394324998 | ABCA3 | c.2621T>A (p.Leu874His) c.2447T>A (p.Leu816His) n.3184T>A | gnomAD v4 |
| 16 | g.2289514G>A | CA394325000 | ABCA3 | c.2620C>T (p.Leu874Phe) c.2446C>T (p.Leu816Phe) n.3183C>T | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289514G>C | CA394325002 | ABCA3 | c.2620C>G (p.Leu874Val) c.2446C>G (p.Leu816Val) n.3183C>G | |
| 16 | g.2289514G= | CA2202153093 | ABCA3 | c.2620C= (p.Leu874=) c.2446C= (p.Leu816=) n.3183C= | |
| 16 | g.2289514G>T | CA394325004 | ABCA3 | c.2620C>A (p.Leu874Ile) c.2446C>A (p.Leu816Ile) n.3183C>A | gnomAD v4 |
| 16 | g.2289515G>A | CA493136137 | ABCA3 | c.2619C>T (p.Asn873=) c.2445C>T (p.Asn815=) n.3182C>T | |
| 16 | g.2289515G>C | CA394325009 | ABCA3 | c.2619C>G (p.Asn873Lys) c.2445C>G (p.Asn815Lys) n.3182C>G | |
| 16 | g.2289515G>T | CA394325006 | ABCA3 | c.2619C>A (p.Asn873Lys) c.2445C>A (p.Asn815Lys) n.3182C>A | |
| 16 | g.2289516T>A | CA394325012 | ABCA3 | c.2618A>T (p.Asn873Ile) c.2444A>T (p.Asn815Ile) n.3181A>T | |
| 16 | g.2289516T>C | CA394325014 | ABCA3 | c.2618A>G (p.Asn873Ser) c.2444A>G (p.Asn815Ser) n.3181A>G | gnomAD v4 |
| 16 | g.2289516T>G | CA394325016 | ABCA3 | c.2618A>C (p.Asn873Thr) c.2444A>C (p.Asn815Thr) n.3181A>C | |
| 16 | g.2289517T>A | CA394325020 | ABCA3 | c.2617A>T (p.Asn873Tyr) c.2443A>T (p.Asn815Tyr) n.3180A>T | |
| 16 | g.2289517T>C | CA394325023 | ABCA3 | c.2617A>G (p.Asn873Asp) c.2443A>G (p.Asn815Asp) n.3180A>G | |
| 16 | g.2289517T>G | CA394325025 | ABCA3 | c.2617A>C (p.Asn873His) c.2443A>C (p.Asn815His) n.3180A>C | |
| 16 | g.2289518del | CA2631185809 | ABCA3 | c.2616del (p.Ser872ArgfsTer?) c.2442del (p.Ser814ArgfsTer?) n.3179del | gnomAD v4 |
| 16 | g.2289518G>A | CA7840765 | ABCA3 | c.2616C>T (p.Ser872=) c.2442C>T (p.Ser814=) n.3179C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289518G>C | CA394325028 | ABCA3 | c.2616C>G (p.Ser872Arg) c.2442C>G (p.Ser814Arg) n.3179C>G | gnomAD v4 |
| 16 | g.2289518G= | CA2202153094 | ABCA3 | c.2616C= (p.Ser872=) c.2442C= (p.Ser814=) n.3179C= | |
| 16 | g.2289518G>T | CA394325030 | ABCA3 | c.2616C>A (p.Ser872Arg) c.2442C>A (p.Ser814Arg) n.3179C>A | gnomAD v4 |
| 16 | g.2289519C>A | CA394325035 | ABCA3 | c.2615G>T (p.Ser872Ile) c.2441G>T (p.Ser814Ile) n.3178G>T | gnomAD v4 |
| 16 | g.2289519C>G | CA394325037 | ABCA3 | c.2615G>C (p.Ser872Thr) c.2441G>C (p.Ser814Thr) n.3178G>C | gnomAD v4 |
| 16 | g.2289519C>T | CA394325039 | ABCA3 | c.2615G>A (p.Ser872Asn) c.2441G>A (p.Ser814Asn) n.3178G>A | gnomAD v4 |
| 16 | g.2289520T>A | CA394325047 | ABCA3 | c.2614A>T (p.Ser872Cys) c.2440A>T (p.Ser814Cys) n.3177A>T | |
| 16 | g.2289520T>C | CA090914 | ABCA3 | c.2614A>G (p.Ser872Gly) c.2440A>G (p.Ser814Gly) n.3177A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289520T>G | CA394325043 | ABCA3 | c.2614A>C (p.Ser872Arg) c.2440A>C (p.Ser814Arg) n.3177A>C | |
| 16 | g.2289520T= | CA2202153095 | ABCA3 | c.2614A= (p.Ser872=) c.2440A= (p.Ser814=) n.3177A= | |
| 16 | g.2289521G>A | CA493136179 | ABCA3 | c.2613C>T (p.Asp871=) c.2439C>T (p.Asp813=) n.3176C>T | gnomAD v4 |
| 16 | g.2289521G>C | CA394325050 | ABCA3 | c.2613C>G (p.Asp871Glu) c.2439C>G (p.Asp813Glu) n.3176C>G | |
| 16 | g.2289521G>T | CA394325052 | ABCA3 | c.2613C>A (p.Asp871Glu) c.2439C>A (p.Asp813Glu) n.3176C>A | gnomAD v4 |
| 16 | g.2289522T>A | CA394325055 | ABCA3 | c.2612A>T (p.Asp871Val) c.2438A>T (p.Asp813Val) n.3175A>T | |
| 16 | g.2289522T>C | CA394325058 | ABCA3 | c.2612A>G (p.Asp871Gly) c.2438A>G (p.Asp813Gly) n.3175A>G | gnomAD v4 |
| 16 | g.2289522T>G | CA394325061 | ABCA3 | c.2612A>C (p.Asp871Ala) c.2438A>C (p.Asp813Ala) n.3175A>C | |
| 16 | g.2289523C>A | CA394325064 | ABCA3 | c.2611G>T (p.Asp871Tyr) c.2437G>T (p.Asp813Tyr) n.3174G>T | gnomAD v4 |
| 16 | g.2289523C>G | CA394325065 | ABCA3 | c.2611G>C (p.Asp871His) c.2437G>C (p.Asp813His) n.3174G>C | |
| 16 | g.2289523C>T | CA394325067 | ABCA3 | c.2611G>A (p.Asp871Asn) c.2437G>A (p.Asp813Asn) n.3174G>A | |
| 16 | g.2289524C>A | CA493136230 | ABCA3 | c.2610G>T (p.Val870=) c.2436G>T (p.Val812=) n.3173G>T | gnomAD v4 |
| 16 | g.2289524C>G | CA493136237 | ABCA3 | c.2610G>C (p.Val870=) c.2436G>C (p.Val812=) n.3173G>C | |
| 16 | g.2289524C>T | CA493136244 | ABCA3 | c.2610G>A (p.Val870=) c.2436G>A (p.Val812=) n.3173G>A | |
| 16 | g.2289525A>C | CA394325070 | ABCA3 | c.2609T>G (p.Val870Gly) c.2435T>G (p.Val812Gly) n.3172T>G | |
| 16 | g.2289525A>G | CA394325072 | ABCA3 | c.2609T>C (p.Val870Ala) c.2435T>C (p.Val812Ala) n.3172T>C | gnomAD v4 |
| 16 | g.2289525A>T | CA394325074 | ABCA3 | c.2609T>A (p.Val870Glu) c.2435T>A (p.Val812Glu) n.3172T>A | gnomAD v4 |
| 16 | g.2289526C>A | CA394325078 | ABCA3 | c.2608G>T (p.Val870Leu) c.2434G>T (p.Val812Leu) n.3171G>T | gnomAD v4 |
| 16 | g.2289526C>G | CA394325080 | ABCA3 | c.2608G>C (p.Val870Leu) c.2434G>C (p.Val812Leu) n.3171G>C | |
| 16 | g.2289526C>T | CA394325081 | ABCA3 | c.2608G>A (p.Val870Met) c.2434G>A (p.Val812Met) n.3171G>A | gnomAD v4 |
| 16 | g.2289527A>C | CA493136269 | ABCA3 | c.2607T>G (p.Ala869=) c.2433T>G (p.Ala811=) n.3170T>G | |
| 16 | g.2289527A>G | CA493136271 | ABCA3 | c.2607T>C (p.Ala869=) c.2433T>C (p.Ala811=) n.3170T>C | gnomAD v4 |
| 16 | g.2289527A>T | CA493136292 | ABCA3 | c.2607T>A (p.Ala869=) c.2433T>A (p.Ala811=) n.3170T>A | |
| 16 | g.2289528G>A | CA394325090 | ABCA3 | c.2606C>T (p.Ala869Val) c.2432C>T (p.Ala811Val) n.3169C>T | gnomAD v4 |
| 16 | g.2289528G>C | CA394325085 | ABCA3 | c.2606C>G (p.Ala869Gly) c.2432C>G (p.Ala811Gly) n.3169C>G | |
| 16 | g.2289528G>T | CA394325086 | ABCA3 | c.2606C>A (p.Ala869Asp) c.2432C>A (p.Ala811Asp) n.3169C>A | |
| 16 | g.2289529C>A | CA394325093 | ABCA3 | c.2605G>T (p.Ala869Ser) c.2431G>T (p.Ala811Ser) n.3168G>T | ClinVar dbSNP gnomAD v4 |
| 16 | g.2289529C= | CA2202153096 | ABCA3 | c.2605G= (p.Ala869=) c.2431G= (p.Ala811=) n.3168G= | |
| 16 | g.2289529C>G | CA7840766 | ABCA3 | c.2605G>C (p.Ala869Pro) c.2431G>C (p.Ala811Pro) n.3168G>C | dbSNP ExAC gnomAD v2 |
| 16 | g.2289529C>T | CA394325103 | ABCA3 | c.2605G>A (p.Ala869Thr) c.2431G>A (p.Ala811Thr) n.3168G>A | gnomAD v4 |
| 16 | g.2289530C>A | CA394325105 | ABCA3 | c.2604G>T (p.Trp868Cys) c.2430G>T (p.Trp810Cys) n.3167G>T | |
| 16 | g.2289530C>G | CA394325108 | ABCA3 | c.2604G>C (p.Trp868Cys) c.2430G>C (p.Trp810Cys) n.3167G>C | |
| 16 | g.2289530C>T | CA394325111 | ABCA3 | c.2604G>A (p.Trp868Ter) c.2430G>A (p.Trp810Ter) n.3167G>A | |
| 16 | g.2289531C>A | CA394325115 | ABCA3 | c.2603G>T (p.Trp868Leu) c.2429G>T (p.Trp810Leu) n.3166G>T | |
| 16 | g.2289531C>G | CA394325119 | ABCA3 | c.2603G>C (p.Trp868Ser) c.2429G>C (p.Trp810Ser) n.3166G>C | |
| 16 | g.2289531C>T | CA394325120 | ABCA3 | c.2603G>A (p.Trp868Ter) c.2429G>A (p.Trp810Ter) n.3166G>A | gnomAD v4 |
| 16 | g.2289532A>C | CA394325124 | ABCA3 | c.2602T>G (p.Trp868Gly) c.2428T>G (p.Trp810Gly) n.3165T>G | |
| 16 | g.2289532A>G | CA394325128 | ABCA3 | c.2602T>C (p.Trp868Arg) c.2428T>C (p.Trp810Arg) n.3165T>C | |
| 16 | g.2289532A>T | CA394325130 | ABCA3 | c.2602T>A (p.Trp868Arg) c.2428T>A (p.Trp810Arg) n.3165T>A | |
| 16 | g.2289533G>A | CA493136372 | ABCA3 | c.2601C>T (p.Asp867=) c.2427C>T (p.Asp809=) n.3164C>T | gnomAD v4 |
| 16 | g.2289533G>C | CA394325135 | ABCA3 | c.2601C>G (p.Asp867Glu) c.2427C>G (p.Asp809Glu) n.3164C>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289533G= | CA2202153097 | ABCA3 | c.2601C= (p.Asp867=) c.2427C= (p.Asp809=) n.3164C= | |
| 16 | g.2289533G>T | CA394325133 | ABCA3 | c.2601C>A (p.Asp867Glu) c.2427C>A (p.Asp809Glu) n.3164C>A | gnomAD v4 |
| 16 | g.2289534T>A | CA394325136 | ABCA3 | c.2600A>T (p.Asp867Val) c.2426A>T (p.Asp809Val) n.3163A>T | gnomAD v4 |
| 16 | g.2289534T>C | CA394325137 | ABCA3 | c.2600A>G (p.Asp867Gly) c.2426A>G (p.Asp809Gly) n.3163A>G | |
| 16 | g.2289534T>G | CA394325138 | ABCA3 | c.2600A>C (p.Asp867Ala) c.2426A>C (p.Asp809Ala) n.3163A>C | |
| 16 | g.2289534T= | CA2202153098 | ABCA3 | c.2600A= (p.Asp867=) c.2426A= (p.Asp809=) n.3163A= | |
| 16 | g.2289535C>A | CA394325139 | ABCA3 | c.2599G>T (p.Asp867Tyr) c.2425G>T (p.Asp809Tyr) n.3162G>T | gnomAD v4 |
| 16 | g.2289535C= | CA2202153099 | ABCA3 | c.2599G= (p.Asp867=) c.2425G= (p.Asp809=) n.3162G= | |
| 16 | g.2289535C>G | CA394325140 | ABCA3 | c.2599G>C (p.Asp867His) c.2425G>C (p.Asp809His) n.3162G>C | gnomAD v4 |
| 16 | g.2289535C>T | CA394325142 | ABCA3 | c.2599G>A (p.Asp867Asn) c.2425G>A (p.Asp809Asn) n.3162G>A | ClinVar dbSNP gnomAD v4 |
| 16 | g.2289538_2289543dup | CA919640554 | ABCA3 | c.2594_2599dup (p.Ser866_Asp867insAlaSer) c.2420_2425dup (p.Ser808_Asp809insAlaSer) n.3157_3162dup | dbSNP |
| 16 | g.2289536G>A | CA7840767 | ABCA3 | c.2598C>T (p.Ser866=) c.2424C>T (p.Ser808=) n.3161C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289536G>C | CA394325148 | ABCA3 | c.2598C>G (p.Ser866Arg) c.2424C>G (p.Ser808Arg) n.3161C>G | |
| 16 | g.2289536G= | CA2202153100 | ABCA3 | c.2598C= (p.Ser866=) c.2424C= (p.Ser808=) n.3161C= | |
| 16 | g.2289536G>T | CA394325145 | ABCA3 | c.2598C>A (p.Ser866Arg) c.2424C>A (p.Ser808Arg) n.3161C>A | gnomAD v4 |
| 16 | g.2289537C>A | CA394325153 | ABCA3 | c.2597G>T (p.Ser866Ile) c.2423G>T (p.Ser808Ile) n.3160G>T | |
| 16 | g.2289537C= | CA2202153101 | ABCA3 | c.2597G= (p.Ser866=) c.2423G= (p.Ser808=) n.3160G= | |
| 16 | g.2289537C>G | CA394325155 | ABCA3 | c.2597G>C (p.Ser866Thr) c.2423G>C (p.Ser808Thr) n.3160G>C | |
| 16 | g.2289537C>T | CA394325156 | ABCA3 | c.2597G>A (p.Ser866Asn) c.2423G>A (p.Ser808Asn) n.3160G>A | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289538T>A | CA394325160 | ABCA3 | c.2596A>T (p.Ser866Cys) c.2422A>T (p.Ser808Cys) n.3159A>T | gnomAD v4 |
| 16 | g.2289538T>C | CA394325163 | ABCA3 | c.2596A>G (p.Ser866Gly) c.2422A>G (p.Ser808Gly) n.3159A>G | |
| 16 | g.2289538T>G | CA394325165 | ABCA3 | c.2596A>C (p.Ser866Arg) c.2422A>C (p.Ser808Arg) n.3159A>C | |
| 16 | g.2289539G>A | CA493136505 | ABCA3 | c.2595C>T (p.Ala865=) c.2421C>T (p.Ala807=) n.3158C>T | gnomAD v4 |
| 16 | g.2289539G>C | CA493136511 | ABCA3 | c.2595C>G (p.Ala865=) c.2421C>G (p.Ala807=) n.3158C>G | |
| 16 | g.2289539G>T | CA493136519 | ABCA3 | c.2595C>A (p.Ala865=) c.2421C>A (p.Ala807=) n.3158C>A | gnomAD v4 |
| 16 | g.2289540G>A | CA394325167 | ABCA3 | c.2594C>T (p.Ala865Val) c.2420C>T (p.Ala807Val) n.3157C>T | gnomAD v4 |
| 16 | g.2289540G>C | CA394325170 | ABCA3 | c.2594C>G (p.Ala865Gly) c.2420C>G (p.Ala807Gly) n.3157C>G | |
| 16 | g.2289540G>T | CA394325168 | ABCA3 | c.2594C>A (p.Ala865Asp) c.2420C>A (p.Ala807Asp) n.3157C>A | gnomAD v4 |
| 16 | g.2289541C>A | CA276825526 | ABCA3 | c.2593G>T (p.Ala865Ser) c.2419G>T (p.Ala807Ser) n.3156G>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289541C= | CA2202153102 | ABCA3 | c.2593G= (p.Ala865=) c.2419G= (p.Ala807=) n.3156G= | |
| 16 | g.2289541C>G | CA394325174 | ABCA3 | c.2593G>C (p.Ala865Pro) c.2419G>C (p.Ala807Pro) n.3156G>C | |
| 16 | g.2289541C>T | CA7840768 | ABCA3 | c.2593G>A (p.Ala865Thr) c.2419G>A (p.Ala807Thr) n.3156G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289542G>A | CA7840769 | ABCA3 | c.2592C>T (p.Arg864=) c.2418C>T (p.Arg806=) n.3155C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289542G>C | CA493136546 | ABCA3 | c.2592C>G (p.Arg864=) c.2418C>G (p.Arg806=) n.3155C>G | |
| 16 | g.2289542G= | CA2202153103 | ABCA3 | c.2592C= (p.Arg864=) c.2418C= (p.Arg806=) n.3155C= | |
| 16 | g.2289542G>T | CA493136547 | ABCA3 | c.2592C>A (p.Arg864=) c.2418C>A (p.Arg806=) n.3155C>A | gnomAD v4 |
| 16 | g.2289543C>A | CA394325179 | ABCA3 | c.2591G>T (p.Arg864Leu) c.2417G>T (p.Arg806Leu) n.3154G>T | gnomAD v4 |
| 16 | g.2289543C= | CA2202153104 | ABCA3 | c.2591G= (p.Arg864=) c.2417G= (p.Arg806=) n.3154G= | |
| 16 | g.2289543C>G | CA394325182 | ABCA3 | c.2591G>C (p.Arg864Pro) c.2417G>C (p.Arg806Pro) n.3154G>C | gnomAD v4 |
| 16 | g.2289543C>T | CA394325185 | ABCA3 | c.2591G>A (p.Arg864His) c.2417G>A (p.Arg806His) n.3154G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289544G>A | CA394325191 | ABCA3 | c.2590C>T (p.Arg864Cys) c.2416C>T (p.Arg806Cys) n.3153C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289544G>C | CA394325192 | ABCA3 | c.2590C>G (p.Arg864Gly) c.2416C>G (p.Arg806Gly) n.3153C>G | |
| 16 | g.2289544G= | CA2202153105 | ABCA3 | c.2590C= (p.Arg864=) c.2416C= (p.Arg806=) n.3153C= | |
| 16 | g.2289544G>T | CA394325194 | ABCA3 | c.2590C>A (p.Arg864Ser) c.2416C>A (p.Arg806Ser) n.3153C>A | COSMIC |
| 16 | g.2289545C>A | CA394325197 | ABCA3 | c.2589G>T (p.Arg863Ser) c.2415G>T (p.Arg805Ser) n.3152G>T | gnomAD v4 |
| 16 | g.2289545C>G | CA394325200 | ABCA3 | c.2589G>C (p.Arg863Ser) c.2415G>C (p.Arg805Ser) n.3152G>C | |
| 16 | g.2289545C>T | CA493136569 | ABCA3 | c.2589G>A (p.Arg863=) c.2415G>A (p.Arg805=) n.3152G>A | gnomAD v4 |
| 16 | g.2289546C>A | CA394325206 | ABCA3 | c.2588G>T (p.Arg863Met) c.2414G>T (p.Arg805Met) n.3151G>T | gnomAD v4 |
| 16 | g.2289546C= | CA2202153106 | ABCA3 | c.2588G= (p.Arg863=) c.2414G= (p.Arg805=) n.3151G= | |
| 16 | g.2289546C>G | CA394325215 | ABCA3 | c.2588G>C (p.Arg863Thr) c.2414G>C (p.Arg805Thr) n.3151G>C | |
| 16 | g.2289546C>T | CA7840770 | ABCA3 | c.2588G>A (p.Arg863Lys) c.2414G>A (p.Arg805Lys) n.3151G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289549_2289550del | CA2631185812 | ABCA3 | c.2587_2588del (p.Arg863AlafsTer?) c.2413_2414del (p.Arg805AlafsTer?) n.3150_3151del | gnomAD v4 |
| 16 | g.2289547T>A | CA394325220 | ABCA3 | c.2587A>T (p.Arg863Trp) c.2413A>T (p.Arg805Trp) n.3150A>T | |
| 16 | g.2289547T>C | CA394325229 | ABCA3 | c.2587A>G (p.Arg863Gly) c.2413A>G (p.Arg805Gly) n.3150A>G | |
| 16 | g.2289547T>G | CA493136597 | ABCA3 | c.2587A>C (p.Arg863=) c.2413A>C (p.Arg805=) n.3150A>C | |
| 16 | g.2289548C>A | CA394325233 | ABCA3 | c.2586G>T (p.Glu862Asp) c.2412G>T (p.Glu804Asp) n.3149G>T | gnomAD v4 |
| 16 | g.2289548C>G | CA394325236 | ABCA3 | c.2586G>C (p.Glu862Asp) c.2412G>C (p.Glu804Asp) n.3149G>C | |
| 16 | g.2289548C>T | CA493136620 | ABCA3 | c.2586G>A (p.Glu862=) c.2412G>A (p.Glu804=) n.3149G>A | |
| 16 | g.2289549T>A | CA394325239 | ABCA3 | c.2585A>T (p.Glu862Val) c.2411A>T (p.Glu804Val) n.3148A>T | |
| 16 | g.2289549T>C | CA394325245 | ABCA3 | c.2585A>G (p.Glu862Gly) c.2411A>G (p.Glu804Gly) n.3148A>G | gnomAD v4 |
| 16 | g.2289549T>G | CA394325243 | ABCA3 | c.2585A>C (p.Glu862Ala) c.2411A>C (p.Glu804Ala) n.3148A>C | |
| 16 | g.2289550C>A | CA394325251 | ABCA3 | c.2584G>T (p.Glu862Ter) c.2410G>T (p.Glu804Ter) n.3147G>T | gnomAD v4 |
| 16 | g.2289550C= | CA2202153107 | ABCA3 | c.2584G= (p.Glu862=) c.2410G= (p.Glu804=) n.3147G= | |
| 16 | g.2289550C>G | CA394325253 | ABCA3 | c.2584G>C (p.Glu862Gln) c.2410G>C (p.Glu804Gln) n.3147G>C | |
| 16 | g.2289550C>T | CA276825532 | ABCA3 | c.2584G>A (p.Glu862Lys) c.2410G>A (p.Glu804Lys) n.3147G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289551G>A | CA7840771 | ABCA3 | c.2583C>T (p.His861=) c.2409C>T (p.His803=) n.3146C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289551G>C | CA394325255 | ABCA3 | c.2583C>G (p.His861Gln) c.2409C>G (p.His803Gln) n.3146C>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289551G= | CA2202153108 | ABCA3 | c.2583C= (p.His861=) c.2409C= (p.His803=) n.3146C= | |
| 16 | g.2289551G>T | CA394325258 | ABCA3 | c.2583C>A (p.His861Gln) c.2409C>A (p.His803Gln) n.3146C>A | gnomAD v4 |
| 16 | g.2289552T>A | CA394325259 | ABCA3 | c.2582A>T (p.His861Leu) c.2408A>T (p.His803Leu) n.3145A>T | |
| 16 | g.2289552T>C | CA394325263 | ABCA3 | c.2582A>G (p.His861Arg) c.2408A>G (p.His803Arg) n.3145A>G | gnomAD v4 |
| 16 | g.2289552T>G | CA394325266 | ABCA3 | c.2582A>C (p.His861Pro) c.2408A>C (p.His803Pro) n.3145A>C | |
| 16 | g.2289553G>A | CA394325270 | ABCA3 | c.2581C>T (p.His861Tyr) c.2407C>T (p.His803Tyr) n.3144C>T | gnomAD v4 |
| 16 | g.2289553G>C | CA394325271 | ABCA3 | c.2581C>G (p.His861Asp) c.2407C>G (p.His803Asp) n.3144C>G | |
| 16 | g.2289553G>T | CA394325272 | ABCA3 | c.2581C>A (p.His861Asn) c.2407C>A (p.His803Asn) n.3144C>A | gnomAD v4 |
| 16 | g.2289554C>A | CA394325274 | ABCA3 | c.2580G>T (p.Gln860His) c.2406G>T (p.Gln802His) n.3143G>T | gnomAD v4 |
| 16 | g.2289554C>G | CA394325277 | ABCA3 | c.2580G>C (p.Gln860His) c.2406G>C (p.Gln802His) n.3143G>C | gnomAD v4 |
| 16 | g.2289554C>T | CA493136692 | ABCA3 | c.2580G>A (p.Gln860=) c.2406G>A (p.Gln802=) n.3143G>A | gnomAD v4 |
| 16 | g.2289555T>A | CA394325279 | ABCA3 | c.2579A>T (p.Gln860Leu) c.2405A>T (p.Gln802Leu) n.3142A>T | |
| 16 | g.2289555T>C | CA394325283 | ABCA3 | c.2579A>G (p.Gln860Arg) c.2405A>G (p.Gln802Arg) n.3142A>G | |
| 16 | g.2289555T>G | CA394325284 | ABCA3 | c.2579A>C (p.Gln860Pro) c.2405A>C (p.Gln802Pro) n.3142A>C | |
| 16 | g.2289556G>A | CA7840772 | ABCA3 | c.2578C>T (p.Gln860Ter) c.2404C>T (p.Gln802Ter) n.3141C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289556G>C | CA394325290 | ABCA3 | c.2578C>G (p.Gln860Glu) c.2404C>G (p.Gln802Glu) n.3141C>G | |
| 16 | g.2289556G= | CA2202153109 | ABCA3 | c.2578C= (p.Gln860=) c.2404C= (p.Gln802=) n.3141C= | |
| 16 | g.2289556G>T | CA394325292 | ABCA3 | c.2578C>A (p.Gln860Lys) c.2404C>A (p.Gln802Lys) n.3141C>A | |
| 16 | g.2289557G>A | CA7840773 | ABCA3 | c.2577C>T (p.Tyr859=) c.2403C>T (p.Tyr801=) n.3140C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.2289557G>C | CA394325296 | ABCA3 | c.2577C>G (p.Tyr859Ter) c.2403C>G (p.Tyr801Ter) n.3140C>G | |
| 16 | g.2289557G= | CA2202153110 | ABCA3 | c.2577C= (p.Tyr859=) c.2403C= (p.Tyr801=) n.3140C= | |
| 16 | g.2289557G>T | CA394325299 | ABCA3 | c.2577C>A (p.Tyr859Ter) c.2403C>A (p.Tyr801Ter) n.3140C>A | |
| 16 | g.2289558T>A | CA394325301 | ABCA3 | c.2576A>T (p.Tyr859Phe) c.2402A>T (p.Tyr801Phe) n.3139A>T | |
| 16 | g.2289558T>C | CA394325304 | ABCA3 | c.2576A>G (p.Tyr859Cys) c.2402A>G (p.Tyr801Cys) n.3139A>G | |
| 16 | g.2289558T>G | CA394325307 | ABCA3 | c.2576A>C (p.Tyr859Ser) c.2402A>C (p.Tyr801Ser) n.3139A>C | dbSNP |
| 16 | g.2289558T= | CA2202153111 | ABCA3 | c.2576A= (p.Tyr859=) c.2402A= (p.Tyr801=) n.3139A= | |
| 16 | g.2289559A>C | CA394325313 | ABCA3 | c.2575T>G (p.Tyr859Asp) c.2401T>G (p.Tyr801Asp) n.3138T>G | |
| 16 | g.2289559A>G | CA394325319 | ABCA3 | c.2575T>C (p.Tyr859His) c.2401T>C (p.Tyr801His) n.3138T>C | |
| 16 | g.2289559A>T | CA394325315 | ABCA3 | c.2575T>A (p.Tyr859Asn) c.2401T>A (p.Tyr801Asn) n.3138T>A | |
| 16 | g.2289560C>A | CA394325322 | ABCA3 | c.2574G>T (p.Gln858His) c.2400G>T (p.Gln800His) n.3137G>T | |
| 16 | g.2289560C>G | CA394325324 | ABCA3 | c.2574G>C (p.Gln858His) c.2400G>C (p.Gln800His) n.3137G>C | gnomAD v4 |
| 16 | g.2289560C>T | CA493136751 | ABCA3 | c.2574G>A (p.Gln858=) c.2400G>A (p.Gln800=) n.3137G>A | gnomAD v4 |
| 16 | g.2289561T>A | CA394325338 | ABCA3 | c.2573A>T (p.Gln858Leu) c.2399A>T (p.Gln800Leu) n.3136A>T | |
| 16 | g.2289561T>C | CA394325341 | ABCA3 | c.2573A>G (p.Gln858Arg) c.2399A>G (p.Gln800Arg) n.3136A>G | gnomAD v4 COSMIC |
| 16 | g.2289561T>G | CA394325345 | ABCA3 | c.2573A>C (p.Gln858Pro) c.2399A>C (p.Gln800Pro) n.3136A>C | |
| 16 | g.2289562G>A | CA394325348 | ABCA3 | c.2572C>T (p.Gln858Ter) c.2398C>T (p.Gln800Ter) n.3135C>T | gnomAD v4 |
| 16 | g.2289562G>C | CA394325351 | ABCA3 | c.2572C>G (p.Gln858Glu) c.2398C>G (p.Gln800Glu) n.3135C>G | |
| 16 | g.2289562G>T | CA394325353 | ABCA3 | c.2572C>A (p.Gln858Lys) c.2398C>A (p.Gln800Lys) n.3135C>A | gnomAD v4 |
| 16 | g.2289563C>A | CA493136771 | ABCA3 | c.2571G>T (p.Leu857=) c.2397G>T (p.Leu799=) n.3134G>T | gnomAD v4 |
| 16 | g.2289563C>G | CA493136772 | ABCA3 | c.2571G>C (p.Leu857=) c.2397G>C (p.Leu799=) n.3134G>C | |
| 16 | g.2289563C>T | CA493136777 | ABCA3 | c.2571G>A (p.Leu857=) c.2397G>A (p.Leu799=) n.3134G>A | gnomAD v4 |
| 16 | g.2289564A>C | CA394325356 | ABCA3 | c.2570T>G (p.Leu857Arg) c.2396T>G (p.Leu799Arg) n.3133T>G | |
| 16 | g.2289564A>G | CA394325361 | ABCA3 | c.2570T>C (p.Leu857Pro) c.2396T>C (p.Leu799Pro) n.3133T>C | gnomAD v4 |
| 16 | g.2289564A>T | CA394325363 | ABCA3 | c.2570T>A (p.Leu857Gln) c.2396T>A (p.Leu799Gln) n.3133T>A | |
| 16 | g.2289565G>A | CA493136793 | ABCA3 | c.2569C>T (p.Leu857=) c.2395C>T (p.Leu799=) n.3132C>T | |
| 16 | g.2289565G>C | CA394325366 | ABCA3 | c.2569C>G (p.Leu857Val) c.2395C>G (p.Leu799Val) n.3132C>G | COSMIC |
| 16 | g.2289565G>T | CA394325368 | ABCA3 | c.2569C>A (p.Leu857Met) c.2395C>A (p.Leu799Met) n.3132C>A | gnomAD v4 |
| 16 | g.2289566G>A | CA493136800 | ABCA3 | c.2568C>T (p.Ala856=) c.2394C>T (p.Ala798=) n.3131C>T | gnomAD v4 |
| 16 | g.2289566G>C | CA493136803 | ABCA3 | c.2568C>G (p.Ala856=) c.2394C>G (p.Ala798=) n.3131C>G | |
| 16 | g.2289566G>T | CA493136817 | ABCA3 | c.2568C>A (p.Ala856=) c.2394C>A (p.Ala798=) n.3131C>A | gnomAD v4 |