Full data view for gene ABCA12

Information The variants shown are described using the NM_173076.2 transcript reference sequence.

458 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     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
?/? c.-34G>C r.(=) p.(=) g.216002965C>G Copied from the Exome Variant Server ABCA12_000454 1/13006 0/8600 1/4406 - - - - - - -
?/? c.4G>T r.(?) p.(Ala2Ser) g.216002928C>A Copied from the Exome Variant Server ABCA12_000452 1/13006 1/8600 0/4406 - - - - - - -
?/? c.17A>G r.(?) p.(His6Arg) g.216002915T>C Copied from the Exome Variant Server ABCA12_000450 1/13006 0/8600 1/4406 - - - - - - -
?/? c.69+15_69+16insA r.(=) p.(=) g.216002847_216002848insT Copied from the Exome Variant Server ABCA12_000448 1/12520 0/8254 1/4266 - - - - - - -
?/? c.69+34T>C r.(=) p.(=) g.216002829A>G Copied from the Exome Variant Server ABCA12_000446 577/13006 3/8600 574/4406 - - - - - - -
?/? c.69+43A>G r.(=) p.(=) g.216002820T>C Copied from the Exome Variant Server ABCA12_000444 1/13006 1/8600 0/4406 - - - - - - -
?/? c.69+44C>T r.(=) p.(=) g.216002819G>A Copied from the Exome Variant Server ABCA12_000442 1/13006 0/8600 1/4406 - - - - - - -
?/? c.69+45G>T r.(=) p.(=) g.216002818C>A Copied from the Exome Variant Server ABCA12_000440 1/13006 0/8600 1/4406 - - - - - - -
?/? c.70-21T>C r.(=) p.(=) g.215976434A>G Copied from the Exome Variant Server ABCA12_000438 1/13000 0/8594 1/4406 - - - - - - -
?/? c.70-9A>G r.(=) p.(=) g.215976422T>C Copied from the Exome Variant Server ABCA12_000458 1/13002 0/8596 1/4406 - - - - - - -
?/? c.135C>T r.(=) p.(=) g.215976348G>A Copied from the Exome Variant Server ABCA12_000457 1/13000 0/8594 1/4406 - - - - - - -
?/? c.140T>G r.(?) p.(Phe47Cys) g.215976343A>C Copied from the Exome Variant Server ABCA12_000456 1/13002 1/8596 0/4406 - - - - - - -
?/? c.163+7A>G r.(=) p.(=) g.215976313T>C Copied from the Exome Variant Server ABCA12_000455 1/13002 0/8596 1/4406 - - - - - - -
?/? c.164-39T>G r.(=) p.(=) g.215928981A>C Copied from the Exome Variant Server ABCA12_000453 1/13004 1/8598 0/4406 - - - - - - -
?/? c.164-30C>G r.(=) p.(=) g.215928972G>C Copied from the Exome Variant Server ABCA12_000451 8364/13004 5053/8598 3311/4406 - - - - - - -
?/? c.196G>A r.(?) p.(Gly66Arg) g.215928910C>T Copied from the Exome Variant Server ABCA12_000449 3/13006 2/8600 1/4406 - - - - - - -
?/? c.217A>C r.(?) p.(Thr73Pro) g.215928889T>G Copied from the Exome Variant Server ABCA12_000447 1/13006 0/8600 1/4406 - - - - - - -
?/? c.224T>A r.(?) p.(Leu75His) g.215928882A>T Copied from the Exome Variant Server ABCA12_000445 1/13006 1/8600 0/4406 - - - - - - -
?/? c.281G>A r.(?) p.(Arg94His) g.215928825C>T Copied from the Exome Variant Server ABCA12_000443 1/13006 1/8600 0/4406 - - - - - - -
?/? c.300T>G r.(?) p.(Asp100Glu) g.215928806A>C Copied from the Exome Variant Server ABCA12_000441 1/13006 1/8600 0/4406 - - - - - - -
?/? c.306A>T r.(=) p.(=) g.215928800T>A Copied from the Exome Variant Server ABCA12_000439 1/13004 1/8598 0/4406 - - - - - - -
?/? c.317+11T>A r.(=) p.(=) g.215928778A>T Copied from the Exome Variant Server ABCA12_000437 10/13004 0/8598 10/4406 - - - - - - -
?/? c.317+13C>T r.(=) p.(=) g.215928776G>A Copied from the Exome Variant Server ABCA12_000436 1/13004 1/8598 0/4406 - - - - - - -
?/? c.318-35G>A r.(=) p.(=) g.215919423C>T Copied from the Exome Variant Server ABCA12_000435 883/13006 9/8600 874/4406 - - - - - - -
?/? c.346G>T r.(?) p.(Asp116Tyr) g.215919360C>A Copied from the Exome Variant Server ABCA12_000434 1/13006 1/8600 0/4406 - - - - - - -
?/? c.356G>A r.(?) p.(Ser119Asn) g.215919350C>T Copied from the Exome Variant Server ABCA12_000433 4/13006 1/8600 3/4406 - - - - - - -
?/? c.409+8A>G r.(=) p.(=) g.215919289T>C Copied from the Exome Variant Server ABCA12_000432 1/13006 1/8600 0/4406 - - - - - - -
?/? c.409+40T>C r.(=) p.(=) g.215919257A>G Copied from the Exome Variant Server ABCA12_000431 2/13006 2/8600 0/4406 - - - - - - -
?/? c.410-36G>A r.(=) p.(=) g.215917344C>T Copied from the Exome Variant Server ABCA12_000430 6/13006 0/8600 6/4406 - - - - - - -
?/? c.410-34_410-33insTGTG r.(=) p.(=) g.215917341_215917342insCACA Copied from the Exome Variant Server ABCA12_000429 33/12520 25/8254 8/4266 - - - - - - -
?/? c.410-33_410-32del r.(=) p.(=) g.215917340_215917341del Copied from the Exome Variant Server ABCA12_000428 202/12520 163/8254 39/4266 - - - - - - -
?/? c.410-33_410-32dup r.(=) p.(=) g.215917340_215917341dup Copied from the Exome Variant Server ABCA12_000427 872/12520 16/8254 856/4266 - - - - - - -
?/? c.450C>T r.(=) p.(=) g.215917268G>A Copied from the Exome Variant Server ABCA12_000426 1/13006 0/8600 1/4406 - - - - - - -
?/? c.484G>A r.(?) p.(Ala162Thr) g.215917234C>T Copied from the Exome Variant Server ABCA12_000425 1/13006 0/8600 1/4406 - - - - - - -
?/? c.485C>T r.(?) p.(Ala162Val) g.215917233G>A Copied from the Exome Variant Server ABCA12_000424 17/13006 15/8600 2/4406 - - - - - - -
?/? c.499T>C r.(=) p.(=) g.215917219A>G Copied from the Exome Variant Server ABCA12_000423 1/13006 1/8600 0/4406 - - - - - - -
?/? c.507+30A>C r.(=) p.(=) g.215917181T>G Copied from the Exome Variant Server ABCA12_000422 894/13006 9/8600 885/4406 - - - - - - -
?/? c.507+49T>A r.(=) p.(=) g.215917162A>T Copied from the Exome Variant Server ABCA12_000421 1/13004 0/8598 1/4406 - - - - - - -
?/? c.508-34A>G r.(=) p.(=) g.215914569T>C Copied from the Exome Variant Server ABCA12_000420 1/12996 0/8592 1/4404 - - - - - - -
?/? c.510G>A r.(=) p.(=) g.215914533C>T Copied from the Exome Variant Server ABCA12_000419 6/13006 6/8600 0/4406 - - - - - - -
?/? c.549A>G r.(=) p.(=) g.215914494T>C Copied from the Exome Variant Server ABCA12_000418 66/13006 0/8600 66/4406 - - - - - - -
?/? c.552A>G r.(=) p.(=) g.215914491T>C Copied from the Exome Variant Server ABCA12_000417 895/13006 9/8600 886/4406 - - - - - - -
?/? c.581A>G r.(?) p.(Asp194Gly) g.215914462T>C Copied from the Exome Variant Server ABCA12_000416 3/13006 2/8600 1/4406 - - - - - - -
?/? c.589T>G r.(?) p.(Phe197Val) g.215914454A>C Copied from the Exome Variant Server ABCA12_000415 1/13006 0/8600 1/4406 - - - - - - -
?/? c.597G>C r.(?) p.(Trp199Cys) g.215914446C>G Copied from the Exome Variant Server ABCA12_000414 895/13006 9/8600 886/4406 - - - - - - -
?/? c.627A>C r.(?) p.(Lys209Asn) g.215914416T>G Copied from the Exome Variant Server ABCA12_000413 2/13006 0/8600 2/4406 - - - - - - -
?/? c.648C>T r.(=) p.(=) g.215914395G>A Copied from the Exome Variant Server ABCA12_000412 1/13006 0/8600 1/4406 - - - - - - -
?/? c.693+14T>C r.(=) p.(=) g.215914336A>G Copied from the Exome Variant Server ABCA12_000411 3/13006 0/8600 3/4406 - - - - - - -
?/? c.693+34A>C r.(=) p.(=) g.215914316T>G Copied from the Exome Variant Server ABCA12_000410 1/13004 0/8598 1/4406 - - - - - - -
?/? c.694-48C>T r.(=) p.(=) g.215910787G>A Copied from the Exome Variant Server ABCA12_000409 1584/12998 71/8596 1513/4402 - - - - - - -
?/? c.694-47A>G r.(=) p.(=) g.215910786T>C Copied from the Exome Variant Server ABCA12_000408 1502/13000 63/8598 1439/4402 - - - - - - -
?/? c.694-37G>A r.(=) p.(=) g.215910776C>T Copied from the Exome Variant Server ABCA12_000407 1/13000 0/8596 1/4404 - - - - - - -
?/? c.694-23del r.(=) p.(=) g.215910762del Copied from the Exome Variant Server ABCA12_000405 25/12518 19/8252 6/4266 - - - - - - -
?/? c.709A>C r.(?) p.(Asn237His) g.215910724T>G Copied from the Exome Variant Server ABCA12_000403 2083/13006 108/8600 1975/4406 - - - - - - -
?/? c.743G>A r.(?) p.(Arg248Lys) g.215910690C>T Copied from the Exome Variant Server ABCA12_000400 1/13006 1/8600 0/4406 - - - - - - -
?/? c.746T>C r.(?) p.(Met249Thr) g.215910687A>G Copied from the Exome Variant Server ABCA12_000398 1/13006 1/8600 0/4406 - - - - - - -
?/? c.776A>T r.(?) p.(Gln259Leu) g.215910657T>A Copied from the Exome Variant Server ABCA12_000397 1/13004 0/8600 1/4404 - - - - - - -
?/? c.781G>C r.(?) p.(Ala261Pro) g.215910652C>G Copied from the Exome Variant Server ABCA12_000395 1/13004 1/8600 0/4404 - - - - - - -
?/? c.802A>G r.(?) p.(Ser268Gly) g.215910631T>C Copied from the Exome Variant Server ABCA12_000393 1/13004 0/8600 1/4404 - - - - - - -
?/? c.821A>G r.(?) p.(Gln274Arg) g.215910612T>C Copied from the Exome Variant Server ABCA12_000406 564/13006 7/8600 557/4406 - - - - - - -
?/? c.825T>C r.(=) p.(=) g.215910608A>G Copied from the Exome Variant Server ABCA12_000404 1/13006 1/8600 0/4406 - - - - - - -
?/? c.859C>G r.(?) p.(Arg287Gly) g.215910574G>C Copied from the Exome Variant Server ABCA12_000402 570/13006 7/8600 563/4406 - - - - - - -
?/? c.872+31T>C r.(=) p.(=) g.215910530A>G Copied from the Exome Variant Server ABCA12_000401 7/13000 0/8598 7/4402 - - - - - - -
?/? c.873-18T>C r.(=) p.(=) g.215901807A>G Copied from the Exome Variant Server ABCA12_000399 1/13006 0/8600 1/4406 - - - - - - -
?/? c.874G>A r.(?) p.(Val292Met) g.215901788C>T Copied from the Exome Variant Server ABCA12_000396 1/13006 1/8600 0/4406 - - - - - - -
?/? c.888G>A r.(=) p.(=) g.215901774C>T Copied from the Exome Variant Server ABCA12_000394 2468/13006 1810/8600 658/4406 - - - - - - -
?/? c.918C>T r.(=) p.(=) g.215901744G>A Copied from the Exome Variant Server ABCA12_000392 1/13006 1/8600 0/4406 - - - - - - -
?/? c.960G>A r.(=) p.(=) g.215901702C>T Copied from the Exome Variant Server ABCA12_000391 1/13006 1/8600 0/4406 - - - - - - -
?/? c.986-77G>T r.(=) p.(=) g.215896697C>A Copied from the Exome Variant Server ABCA12_000390 204/13002 187/8598 17/4404 - - - - - - -
?/? c.986-52A>G r.(=) p.(=) g.215896672T>C Copied from the Exome Variant Server ABCA12_000389 8/13006 7/8600 1/4406 - - - - - - -
?/? c.986-50C>A r.(=) p.(=) g.215896670G>T Copied from the Exome Variant Server ABCA12_000388 1/13006 1/8600 0/4406 - - - - - - -
?/? c.986-21A>G r.(=) p.(=) g.215896641T>C Copied from the Exome Variant Server ABCA12_000387 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1004C>T r.(?) p.(Thr335Met) g.215896602G>A Copied from the Exome Variant Server ABCA12_000386 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1061+29A>T r.(=) p.(=) g.215896516T>A Copied from the Exome Variant Server ABCA12_000385 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1062-8T>A r.(=) p.(=) g.215891670A>T Copied from the Exome Variant Server ABCA12_000384 10/13006 9/8600 1/4406 - - - - - - -
?/? c.1062-4G>T r.spl? p.? g.215891666C>A Copied from the Exome Variant Server ABCA12_000383 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1107A>G r.(=) p.(=) g.215891617T>C Copied from the Exome Variant Server ABCA12_000382 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1132T>C r.(=) p.(=) g.215891592A>G Copied from the Exome Variant Server ABCA12_000381 16/13006 0/8600 16/4406 - - - - - - -
?/? c.1141G>C r.(?) p.(Val381Leu) g.215891583C>G Copied from the Exome Variant Server ABCA12_000380 23/13006 20/8600 3/4406 - - - - - - -
?/? c.1174T>C r.(?) p.(Ser392Pro) g.215891550A>G Copied from the Exome Variant Server ABCA12_000379 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1221A>G r.(=) p.(=) g.215890463T>C Copied from the Exome Variant Server ABCA12_000378 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1222T>C r.(?) p.(Ser408Pro) g.215890462A>G Copied from the Exome Variant Server ABCA12_000377 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1238G>A r.(?) p.(Gly413Asp) g.215890446C>T Copied from the Exome Variant Server ABCA12_000376 1/13006 0/8600 1/4406 - - - - - - -
?/? c.1245T>C r.(=) p.(=) g.215890439A>G Copied from the Exome Variant Server ABCA12_000375 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1287+9T>C r.(=) p.(=) g.215890388A>G Copied from the Exome Variant Server ABCA12_000374 5/13002 4/8598 1/4404 - - - - - - -
?/? c.1287+14G>T r.(=) p.(=) g.215890383C>A Copied from the Exome Variant Server ABCA12_000373 46/12984 0/8592 46/4392 - - - - - - -
?/? c.1287+25del r.(=) p.(=) g.215890372del Copied from the Exome Variant Server ABCA12_000372 125/12358 65/8206 60/4152 - - - - - - -
?/? c.1287+25dup r.(=) p.(=) g.215890372dup Copied from the Exome Variant Server ABCA12_000371 247/12358 123/8206 124/4152 - - - - - - -
?/? c.1287+26del r.(=) p.(=) g.215890371del Copied from the Exome Variant Server ABCA12_000370 290/12380 168/8208 122/4172 - - - - - - -
?/? c.1287+43del r.(=) p.(=) g.215890354del Copied from the Exome Variant Server ABCA12_000369 206/12198 126/8146 80/4052 - - - - - - -
?/? c.1287+43_1287+44del r.(=) p.(=) g.215890353_215890354del Copied from the Exome Variant Server ABCA12_000368 11752/12198 7886/8146 3866/4052 - - - - - - -
?/? c.1288-40G>A r.(=) p.(=) g.215884560C>T Copied from the Exome Variant Server ABCA12_000367 1/12942 0/8578 1/4364 - - - - - - -
?/? c.1296A>G r.(=) p.(=) g.215884512T>C Copied from the Exome Variant Server ABCA12_000366 4/13002 4/8596 0/4406 - - - - - - -
?/? c.1311C>T r.(=) p.(=) g.215884497G>A Copied from the Exome Variant Server ABCA12_000365 2/13004 2/8598 0/4406 - - - - - - -
?/? c.1376G>C r.(?) p.(Ser459Thr) g.215884432C>G Copied from the Exome Variant Server ABCA12_000364 5/13006 5/8600 0/4406 - - - - - - -
?/? c.1422C>T r.(=) p.(=) g.215884386G>A Copied from the Exome Variant Server ABCA12_000363 2/13006 0/8600 2/4406 - - - - - - -
?/? c.1423G>A r.(?) p.(Glu475Lys) g.215884385C>T Copied from the Exome Variant Server ABCA12_000362 1/13006 1/8600 0/4406 - - - - - - -
?/? c.1427C>T r.(?) p.(Ala476Val) g.215884381G>A Copied from the Exome Variant Server ABCA12_000360 3/13006 2/8600 1/4406 - - - - - - -
?/? c.1428G>A r.(=) p.(=) g.215884380C>T Copied from the Exome Variant Server ABCA12_000358 172/13006 2/8600 170/4406 - - - - - - -
?/? c.1443C>A r.(=) p.(=) g.215884365G>T Copied from the Exome Variant Server ABCA12_000356 1/13006 1/8600 0/4406 - - - - - - -
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