All transcript variants in gene ABCA3

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

442 entries on 5 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-182C>T r.(=) p.(=) g.2378609G>A Copied from the Exome Variant Server ABCA3_000442 18/5732 18/3980 0/1752
?/? c.-174C>G r.(=) p.(=) g.2378601G>C Copied from the Exome Variant Server ABCA3_000441 2/5732 0/3980 2/1752
?/? c.-169G>A r.(=) p.(=) g.2378596C>T Copied from the Exome Variant Server ABCA3_000440 494/5732 9/3980 485/1752
?/? c.-137C>G r.(=) p.(=) g.2378564G>C Copied from the Exome Variant Server ABCA3_000439 2/5734 1/3982 1/1752
?/? c.-120C>T r.(=) p.(=) g.2378547G>A Copied from the Exome Variant Server ABCA3_000438 14/5732 0/3982 14/1750
?/? c.-67C>T r.(=) p.(=) g.2378494G>A Copied from the Exome Variant Server ABCA3_000437 12/5734 9/3982 3/1752
?/? c.-35C>T r.(=) p.(=) g.2378462G>A Copied from the Exome Variant Server ABCA3_000436 1/5734 1/3982 0/1752
?/? c.-29C>G r.(=) p.(=) g.2378456G>C Copied from the Exome Variant Server ABCA3_000435 87/5734 1/3982 86/1752
?/? c.-27+10T>A r.(=) p.(=) g.2378444A>T Copied from the Exome Variant Server ABCA3_000434 90/5730 1/3980 89/1750
?/? c.-26-36G>T r.(=) p.(=) g.2376529C>A Copied from the Exome Variant Server ABCA3_000433 1/4566 1/3182 0/1384
?/? c.-26-35C>T r.(=) p.(=) g.2376528G>A Copied from the Exome Variant Server ABCA3_000432 1/4566 0/3182 1/1384
?/? c.-26-34G>A r.(=) p.(=) g.2376527C>T Copied from the Exome Variant Server ABCA3_000431 1/4566 1/3182 0/1384
?/? c.-26-18T>G r.(=) p.(=) g.2376511A>C Copied from the Exome Variant Server ABCA3_000430 1/12988 1/8594 0/4394
?/? c.-26C>T r.(=) p.(=) g.2376493G>A Copied from the Exome Variant Server ABCA3_000429 3/12994 3/8598 0/4396
?/? c.-16C>T r.(=) p.(=) g.2376483G>A Copied from the Exome Variant Server ABCA3_000428 2/12996 0/8600 2/4396
?/? c.-9A>G r.(=) p.(=) g.2376476T>C Copied from the Exome Variant Server ABCA3_000427 147/12996 1/8600 146/4396
?/? c.5C>A r.(?) p.(Ala2Asp) g.2376463G>T Copied from the Exome Variant Server ABCA3_000426 13/12994 0/8598 13/4396
?/? c.27C>G r.(=) p.(=) g.2376441G>C Copied from the Exome Variant Server ABCA3_000425 1/12996 0/8600 1/4396
?/? c.37A>T r.(?) p.(Lys13*) g.2376431T>A Copied from the Exome Variant Server ABCA3_000424 1/12996 1/8600 0/4396
?/? c.54+19G>A r.(=) p.(=) g.2376395C>T Copied from the Exome Variant Server ABCA3_000423 1/12996 1/8600 0/4396
?/? c.54+33G>A r.(=) p.(=) g.2376381C>T Copied from the Exome Variant Server ABCA3_000422 1/12996 1/8600 0/4396
?/? c.54+51C>T r.(=) p.(=) g.2376363G>A Copied from the Exome Variant Server ABCA3_000421 46/12996 0/8600 46/4396
?/? c.54+65T>C r.(=) p.(=) g.2376349A>G Copied from the Exome Variant Server ABCA3_000420 7/4566 3/3182 4/1384
?/? c.55-24C>T r.(=) p.(=) g.2376299G>A Copied from the Exome Variant Server ABCA3_000419 2/12996 2/8600 0/4396
?/? c.58C>T r.(?) p.(Arg20Trp) g.2376272G>A Copied from the Exome Variant Server ABCA3_000418 4/12996 2/8600 2/4396
?/? c.75G>A r.(=) p.(=) g.2376255C>T Copied from the Exome Variant Server ABCA3_000417 1/12996 1/8600 0/4396
?/? c.93G>C r.(=) p.(=) g.2376237C>G Copied from the Exome Variant Server ABCA3_000416 1/12996 1/8600 0/4396
?/? c.115C>G r.(?) p.(Leu39Val) g.2376215G>C Copied from the Exome Variant Server ABCA3_000415 1/12996 1/8600 0/4396
?/? c.127C>T r.(?) p.(Arg43Cys) g.2376203G>A Copied from the Exome Variant Server ABCA3_000414 1/12996 1/8600 0/4396
?/? c.149A>G r.(?) p.(Asn50Ser) g.2376181T>C Copied from the Exome Variant Server ABCA3_000413 1/12996 1/8600 0/4396
?/? c.160G>A r.(?) p.(Ala54Thr) g.2376170C>T Copied from the Exome Variant Server ABCA3_000412 5/12996 5/8600 0/4396
?/? c.174G>A r.(=) p.(=) g.2376156C>T Copied from the Exome Variant Server ABCA3_000411 1/12996 1/8600 0/4396
?/? c.213C>T r.(=) p.(=) g.2376117G>A Copied from the Exome Variant Server ABCA3_000410 1/12996 0/8600 1/4396
?/? c.265G>A r.(?) p.(Ala89Thr) g.2376065C>T Copied from the Exome Variant Server ABCA3_000409 1/12996 0/8600 1/4396
?/? c.274A>T r.(?) p.(Thr92Ser) g.2376056T>A Copied from the Exome Variant Server ABCA3_000408 1/12996 0/8600 1/4396
?/? c.276C>T r.(=) p.(=) g.2376054G>A Copied from the Exome Variant Server ABCA3_000407 1/12996 1/8600 0/4396
?/? c.277G>A r.(?) p.(Val93Ile) g.2376053C>T Copied from the Exome Variant Server ABCA3_000406 1/12996 1/8600 0/4396
?/? c.317G>A r.(?) p.(Arg106Gln) g.2376013C>T Copied from the Exome Variant Server ABCA3_000405 1/12996 1/8600 0/4396
?/? c.319+13G>A r.(=) p.(=) g.2375998C>T Copied from the Exome Variant Server ABCA3_000404 1/12996 0/8600 1/4396
?/? c.319+22G>A r.(=) p.(=) g.2375989C>T Copied from the Exome Variant Server ABCA3_000403 1/12994 0/8598 1/4396
?/? c.319+50G>A r.(=) p.(=) g.2375961C>T Copied from the Exome Variant Server ABCA3_000402 10816/12980 8558/8592 2258/4388
?/? c.320-18C>G r.(=) p.(=) g.2374550G>C Copied from the Exome Variant Server ABCA3_000401 1/12996 0/8600 1/4396
?/? c.320-17G>A r.(=) p.(=) g.2374549C>T Copied from the Exome Variant Server ABCA3_000400 147/12996 136/8600 11/4396
?/? c.320-10C>G r.(=) p.(=) g.2374542G>C Copied from the Exome Variant Server ABCA3_000399 1/12996 0/8600 1/4396
?/? c.345C>G r.(?) p.(Asp115Glu) g.2374507G>C Copied from the Exome Variant Server ABCA3_000398 2/12996 0/8600 2/4396
?/? c.367G>A r.(?) p.(Asp123Asn) g.2374485C>T Copied from the Exome Variant Server ABCA3_000397 6/12996 6/8600 0/4396
?/? c.371A>G r.(?) p.(Asn124Ser) g.2374481T>C Copied from the Exome Variant Server ABCA3_000396 11/12996 11/8600 0/4396
?/? c.377C>T r.(?) p.(Ser126Leu) g.2374475G>A Copied from the Exome Variant Server ABCA3_000395 1/12996 1/8600 0/4396
?/? c.385G>A r.(?) p.(Val129Met) g.2374467C>T Copied from the Exome Variant Server ABCA3_000394 14/12996 1/8600 13/4396
?/? c.393C>T r.(=) p.(=) g.2374459G>A Copied from the Exome Variant Server ABCA3_000393 20/12996 16/8600 4/4396
?/? c.397G>A r.(?) p.(Val133Met) g.2374455C>T Copied from the Exome Variant Server ABCA3_000392 1/12996 1/8600 0/4396
?/? c.412C>G r.(?) p.(Pro138Ala) g.2374440G>C Copied from the Exome Variant Server ABCA3_000391 1/12996 0/8600 1/4396
?/? c.418A>C r.(?) p.(Asn140His) g.2374434T>G Copied from the Exome Variant Server ABCA3_000390 5/12996 0/8600 5/4396
?/? c.446C>T r.(?) p.(Ala149Val) g.2374406G>A Copied from the Exome Variant Server ABCA3_000389 1/12970 1/8584 0/4386
?/? c.447+8G>A r.(=) p.(=) g.2374397C>T Copied from the Exome Variant Server ABCA3_000388 3/12980 0/8592 3/4388
?/? c.447+11C>T r.(=) p.(=) g.2374394G>A Copied from the Exome Variant Server ABCA3_000387 227/12984 210/8594 17/4390
?/? c.447+15C>T r.(=) p.(=) g.2374390G>A Copied from the Exome Variant Server ABCA3_000386 1/12988 1/8596 0/4392
?/? c.447+42A>G r.(=) p.(=) g.2374363T>C Copied from the Exome Variant Server ABCA3_000385 1/12962 0/8582 1/4380
?/? c.448-48del r.(=) p.(=) g.2373737del Copied from the Exome Variant Server ABCA3_000384 1/12518 0/8254 1/4264
?/? c.448-34C>G r.(=) p.(=) g.2373723G>C Copied from the Exome Variant Server ABCA3_000383 1/12996 0/8600 1/4396
?/? c.448-31G>A r.(=) p.(=) g.2373720C>T Copied from the Exome Variant Server ABCA3_000382 1/12996 0/8600 1/4396
?/? c.448-14C>G r.(=) p.(=) g.2373703G>C Copied from the Exome Variant Server ABCA3_000381 174/12996 159/8600 15/4396
?/? c.448-12_448-11del r.(=) p.(=) g.2373700_2373701del Copied from the Exome Variant Server ABCA3_000380 1/12518 1/8254 0/4264
?/? c.448-10G>T r.(=) p.(=) g.2373699C>A Copied from the Exome Variant Server ABCA3_000379 1/12996 1/8600 0/4396
?/? c.450G>A r.(=) p.(=) g.2373687C>T Copied from the Exome Variant Server ABCA3_000378 504/12996 6/8600 498/4396
?/? c.474C>T r.(=) p.(=) g.2373663G>A Copied from the Exome Variant Server ABCA3_000377 1/12996 1/8600 0/4396
?/? c.504A>G r.(=) p.(=) g.2373633T>C Copied from the Exome Variant Server ABCA3_000376 1/12996 1/8600 0/4396
?/? c.579A>G r.(=) p.(=) g.2373558T>C Copied from the Exome Variant Server ABCA3_000375 1/12996 1/8600 0/4396
?/? c.608A>G r.(?) p.(Glu203Gly) g.2373529T>C Copied from the Exome Variant Server ABCA3_000374 1/12996 1/8600 0/4396
?/? c.613+11C>T r.(=) p.(=) g.2373513G>A Copied from the Exome Variant Server ABCA3_000373 2/12996 0/8600 2/4396
?/? c.613+18G>T r.(=) p.(=) g.2373506C>A Copied from the Exome Variant Server ABCA3_000372 17/12996 17/8600 0/4396
?/? c.613+23G>A r.(=) p.(=) g.2373501C>T Copied from the Exome Variant Server ABCA3_000371 1/12996 0/8600 1/4396
?/? c.613+35C>T r.(=) p.(=) g.2373489G>A Copied from the Exome Variant Server ABCA3_000370 3/12996 0/8600 3/4396
?/? c.613+40T>G r.(=) p.(=) g.2373484A>C Copied from the Exome Variant Server ABCA3_000369 113/12996 2/8600 111/4396
?/? c.614-51T>C r.(=) p.(=) g.2369892A>G Copied from the Exome Variant Server ABCA3_000368 2/12992 0/8596 2/4396
?/? c.614-50C>T r.(=) p.(=) g.2369891G>A Copied from the Exome Variant Server ABCA3_000367 2/12992 2/8596 0/4396
?/? c.614-44C>T r.(=) p.(=) g.2369885G>A Copied from the Exome Variant Server ABCA3_000366 6/12992 0/8596 6/4396
?/? c.614-35G>A r.(=) p.(=) g.2369876C>T Copied from the Exome Variant Server ABCA3_000365 1/12994 1/8598 0/4396
?/? c.614-14G>A r.(=) p.(=) g.2369855C>T Copied from the Exome Variant Server ABCA3_000364 2/12996 1/8600 1/4396
?/? c.614-9C>T r.(=) p.(=) g.2369850G>A Copied from the Exome Variant Server ABCA3_000363 47/12996 3/8600 44/4396
?/? c.614-8G>A r.(=) p.(=) g.2369849C>T Copied from the Exome Variant Server ABCA3_000362 1/12996 0/8600 1/4396
?/? c.614-1G>C r.spl? p.? g.2369842C>G Copied from the Exome Variant Server ABCA3_000361 1/12996 0/8600 1/4396
?/? c.634C>A r.(?) p.(Leu212Met) g.2369821G>T Copied from the Exome Variant Server ABCA3_000360 16/12996 16/8600 0/4396
?/? c.640G>A r.(?) p.(Val214Met) g.2369815C>T Copied from the Exome Variant Server ABCA3_000359 1/12996 0/8600 1/4396
?/? c.657C>G r.(?) p.(Asp219Glu) g.2369798G>C Copied from the Exome Variant Server ABCA3_000358 1/12996 1/8600 0/4396
?/? c.681C>T r.(=) p.(=) g.2369774G>A Copied from the Exome Variant Server ABCA3_000357 203/12996 192/8600 11/4396
?/? c.687C>T r.(=) p.(=) g.2369768G>A Copied from the Exome Variant Server ABCA3_000356 1/12996 0/8600 1/4396
?/? c.689C>T r.(?) p.(Ala230Val) g.2369766G>A Copied from the Exome Variant Server ABCA3_000355 2/12996 0/8600 2/4396
?/? c.694C>T r.(?) p.(Arg232Cys) g.2369761G>A Copied from the Exome Variant Server ABCA3_000354 1/12996 1/8600 0/4396
?/? c.695G>A r.(?) p.(Arg232His) g.2369760C>T Copied from the Exome Variant Server ABCA3_000353 1/12996 0/8600 1/4396
?/? c.716C>T r.(?) p.(Thr239Met) g.2369739G>A Copied from the Exome Variant Server ABCA3_000352 2/12996 0/8600 2/4396
?/? c.720G>C r.(=) p.(=) g.2369735C>G Copied from the Exome Variant Server ABCA3_000351 1/12996 1/8600 0/4396
?/? c.735C>A r.(?) p.(Phe245Leu) g.2369720G>T Copied from the Exome Variant Server ABCA3_000350 1/12996 0/8600 1/4396
?/? c.737C>T r.(?) p.(Pro246Leu) g.2369718G>A Copied from the Exome Variant Server ABCA3_000349 1/12996 1/8600 0/4396
?/? c.744G>A r.(=) p.(=) g.2369711C>T Copied from the Exome Variant Server ABCA3_000348 1/12996 1/8600 0/4396
?/? c.747G>A r.(=) p.(=) g.2369708C>T Copied from the Exome Variant Server ABCA3_000347 6/12996 6/8600 0/4396
?/? c.753C>T r.(=) p.(=) g.2369702G>A Copied from the Exome Variant Server ABCA3_000346 5/12996 5/8600 0/4396
?/? c.762C>A r.(=) p.(=) g.2369693G>T Copied from the Exome Variant Server ABCA3_000345 2/12996 2/8600 0/4396
?/? c.767T>A r.(?) p.(Leu256His) g.2369688A>T Copied from the Exome Variant Server ABCA3_000344 1/12996 0/8600 1/4396
?/? c.768C>T r.(=) p.(=) g.2369687G>A Copied from the Exome Variant Server ABCA3_000343 1/12996 0/8600 1/4396
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