Unique variants in gene ABCA3

Information The variants shown are described using the NM_001089.2 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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Effect     

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Owner     
?/? 1 c.-539+3314C>T r.(=) p.(=) intron g.2387260G>A chr16_001630 rs17135889 -0.03999999910593033 Ivo F.A.C. Fokkema
?/? 1 c.-539+3664G>A r.(=) p.(=) intron g.2386910C>T chr16_001629 rs35713464 -0.0430000014603138 Ivo F.A.C. Fokkema
?/? 1 c.-538-4078G>A r.(=) p.(=) intron g.2383933C>T chr16_001628 rs148609122 -1.7680000066757202 Ivo F.A.C. Fokkema
?/? 1 c.-538-2499G>A r.(=) p.(=) intron g.2382354C>T chr16_001627 rs17758402 2.9489998817443848 Ivo F.A.C. Fokkema
?/? 1 c.-27+946A>G r.(=) p.(=) intron g.2377508T>C chr16_001626 rs323051 -0.32499998807907104 Ivo F.A.C. Fokkema
?/? 1 c.-26-856A>G r.(=) p.(=) intron g.2377349T>C chr16_001625 rs323052 -1.5360000133514404 Ivo F.A.C. Fokkema
?/? 1 c.-26-721A>G r.(=) p.(=) intron g.2377214T>C chr16_001624 rs323053 -2.2290000915527344 Ivo F.A.C. Fokkema
?/? 1 c.-26-494G>A r.(=) p.(=) intron g.2376987C>T chr16_001623 rs323054 -0.8339999914169312 Ivo F.A.C. Fokkema
?/? 1 c.-26-488T>C r.(=) p.(=) intron g.2376981A>G chr16_001622 rs323055 0.2540000081062317 Ivo F.A.C. Fokkema
?/? 1 c.-26-213A>G r.(=) p.(=) intron g.2376706T>C chr16_001621 rs323056 -0.25999999046325684 Ivo F.A.C. Fokkema
?/? 1 c.319+50G>A r.(=) p.(=) intron g.2375961C>T chr16_001620 rs46725 0.5540000200271606 Ivo F.A.C. Fokkema
?/? 1 c.1741+33A>G r.(=) p.(=) intron g.2349371T>C chr16_001619 rs170447 -0.5559999942779541 Ivo F.A.C. Fokkema
?/? 1 c.2264-17G>A r.(=) p.(=) intron g.2345758C>T chr16_001618 rs45538638 -0.734000027179718 Ivo F.A.C. Fokkema
?/? 1 c.2701-33G>C r.(=) p.(=) intron g.2338363C>G chr16_001617 rs313908 -0.3089999854564667 Ivo F.A.C. Fokkema
?/? 1 c.3004+34C>T r.(=) p.(=) intron g.2337993G>A chr16_001616 rs313909 -1.6449999809265137 Ivo F.A.C. Fokkema
?/? 1 c.4116T>C r.(?) p.(=) coding-synonymous g.2331430A>G chr16_001615 rs149532 0.44600000977516174 Ivo F.A.C. Fokkema
?/? 1 c.*2372T>C r.(=) p.(=) utr-3 g.2324303A>G chr16_001614 rs161427 -1.0440000295639038 Ivo F.A.C. Fokkema
?/? 1 c.*2606A>C r.(=) p.(=) utr-3 g.2324069T>G chr16_001613 rs150925 0.09300000220537186 Ivo F.A.C. Fokkema
?/? 1 c.*3281C>T r.(=) p.(=) utr-3 g.2323394G>A chr16_001612 rs12599229 -0.5210000276565552 Ivo F.A.C. Fokkema
?/? 1 c.*5467C>A r.(=) p.(=) utr-3 g.2321208G>T chr16_001611 rs12386010 -1.5479999780654907 Ivo F.A.C. Fokkema
?/? 1 c.*5639T>C r.(=) p.(=) utr-3 g.2321036A>G chr16_001610 rs12386039 -0.2759999930858612 Ivo F.A.C. Fokkema
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