| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.2289459C>A | CA394324667 | ABCA3 | c.2675G>T (p.Arg892Leu) c.2501G>T (p.Arg834Leu) n.3238G>T | gnomAD v4 |
| 16 | g.2289459C= | CA2202153053 | ABCA3 | c.2675G= (p.Arg892=) c.2501G= (p.Arg834=) n.3238G= | |
| 16 | g.2289459C>G | CA394324671 | ABCA3 | c.2675G>C (p.Arg892Pro) c.2501G>C (p.Arg834Pro) n.3238G>C | |
| 16 | g.2289459C>T | CA241906 | ABCA3 | c.2675G>A (p.Arg892His) c.2501G>A (p.Arg834His) n.3238G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289460G>A | CA394324683 | ABCA3 | c.2674C>T (p.Arg892Cys) c.2500C>T (p.Arg834Cys) n.3237C>T | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289460G>C | CA394324680 | ABCA3 | c.2674C>G (p.Arg892Gly) c.2500C>G (p.Arg834Gly) n.3237C>G | gnomAD v4 |
| 16 | g.2289460G= | CA2202153055 | ABCA3 | c.2674C= (p.Arg892=) c.2500C= (p.Arg834=) n.3237C= | |
| 16 | g.2289460G>T | CA394324677 | ABCA3 | c.2674C>A (p.Arg892Ser) c.2500C>A (p.Arg834Ser) n.3237C>A | gnomAD v4 |
| 16 | g.2289460_2289463delinsGCTC | CA2202153054 | ABCA3 | c.2671_2674delinsGAGC (p.Glu891=) c.2497_2500delinsGAGC (p.Glu833=) n.3234_3237delinsGAGC | |
| 16 | g.2289461C>A | CA7840752 | ABCA3 | c.2673G>T (p.Glu891Asp) c.2499G>T (p.Glu833Asp) n.3236G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.2289461C= | CA2202153056 | ABCA3 | c.2673G= (p.Glu891=) c.2499G= (p.Glu833=) n.3236G= | |
| 16 | g.2289461C>G | CA394324687 | ABCA3 | c.2673G>C (p.Glu891Asp) c.2499G>C (p.Glu833Asp) n.3236G>C | |
| 16 | g.2289461C>T | CA493135365 | ABCA3 | c.2673G>A (p.Glu891=) c.2499G>A (p.Glu833=) n.3236G>A | gnomAD v4 |
| 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.2289462T>A | CA394324697 | ABCA3 | c.2672A>T (p.Glu891Val) c.2498A>T (p.Glu833Val) n.3235A>T | |
| 16 | g.2289462T>C | CA276825493 | ABCA3 | c.2672A>G (p.Glu891Gly) c.2498A>G (p.Glu833Gly) n.3235A>G | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.2289462T>G | CA394324701 | ABCA3 | c.2672A>C (p.Glu891Ala) c.2498A>C (p.Glu833Ala) n.3235A>C | |
| 16 | g.2289462T= | CA2202153057 | ABCA3 | c.2672A= (p.Glu891=) c.2498A= (p.Glu833=) n.3235A= | |
| 16 | g.2289463C>A | CA394324703 | ABCA3 | c.2671G>T (p.Glu891Ter) c.2497G>T (p.Glu833Ter) n.3234G>T | gnomAD v4 |
| 16 | g.2289463C= | CA2202153058 | ABCA3 | c.2671G= (p.Glu891=) c.2497G= (p.Glu833=) n.3234G= | |
| 16 | g.2289463C>G | CA394324709 | ABCA3 | c.2671G>C (p.Glu891Gln) c.2497G>C (p.Glu833Gln) n.3234G>C | |
| 16 | g.2289463C>T | CA394324704 | ABCA3 | c.2671G>A (p.Glu891Lys) c.2497G>A (p.Glu833Lys) n.3234G>A | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289464C>A | CA394324712 | ABCA3 | c.2670G>T (p.Glu890Asp) c.2496G>T (p.Glu832Asp) n.3233G>T | gnomAD v4 |
| 16 | g.2289464C= | CA2202153059 | ABCA3 | c.2670G= (p.Glu890=) c.2496G= (p.Glu832=) n.3233G= | |
| 16 | g.2289464C>G | CA394324714 | ABCA3 | c.2670G>C (p.Glu890Asp) c.2496G>C (p.Glu832Asp) n.3233G>C | |
| 16 | g.2289464C>T | CA7840753 | ABCA3 | c.2670G>A (p.Glu890=) c.2496G>A (p.Glu832=) n.3233G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.2289465T>A | CA394324718 | ABCA3 | c.2669A>T (p.Glu890Val) c.2495A>T (p.Glu832Val) n.3232A>T | |
| 16 | g.2289465T>C | CA394324720 | ABCA3 | c.2669A>G (p.Glu890Gly) c.2495A>G (p.Glu832Gly) n.3232A>G | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.2289465T>G | CA394324722 | ABCA3 | c.2669A>C (p.Glu890Ala) c.2495A>C (p.Glu832Ala) n.3232A>C | |
| 16 | g.2289465T= | CA2202153060 | ABCA3 | c.2669A= (p.Glu890=) c.2495A= (p.Glu832=) n.3232A= | |
| 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 |