Full data view for gene ABCA2

Information The variants shown are described using the NM_001606.4 transcript reference sequence.

538 entries on 6 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.-732A>G r.(=) p.(=) g.139923324T>C Copied from the Exome Variant Server C9orf139_000004 166/12062 4/8236 162/3826 - - - - - - -
?/? c.-709G>A r.(=) p.(=) g.139923301C>T Copied from the Exome Variant Server C9orf139_000002 1/11964 1/8180 0/3784 - - - - - - -
?/? c.-695C>T r.(=) p.(=) g.139923287G>A Copied from the Exome Variant Server C9orf139_000008 1/11888 1/8160 0/3728 - - - - - - -
?/? c.-673T>C r.(=) p.(=) g.139923265A>G Copied from the Exome Variant Server C9orf139_000007 9137/11848 5991/8146 3146/3702 - - - - - - -
?/? c.-621G>A r.(=) p.(=) g.139923213C>T Copied from the Exome Variant Server C9orf139_000006 1/11932 1/8184 0/3748 - - - - - - -
?/? c.-608G>A r.(=) p.(=) g.139923200C>T Copied from the Exome Variant Server C9orf139_000005 2/11936 0/8180 2/3756 - - - - - - -
?/? c.-586T>G r.(=) p.(=) g.139923178A>C Copied from the Exome Variant Server C9orf139_000003 1/11906 1/8154 0/3752 - - - - - - -
?/? c.-546T>A r.(=) p.(=) g.139923138A>T Copied from the Exome Variant Server C9orf139_000001 1/11804 1/8116 0/3688 - - - - - - -
?/? c.67-42G>A r.(=) p.(=) g.139918730C>T Copied from the Exome Variant Server ABCA2_000528 5/12306 4/8282 1/4024 - - - - - - -
?/? c.67-29C>T r.(=) p.(=) g.139918717G>A Copied from the Exome Variant Server ABCA2_000527 1/12350 1/8304 0/4046 - - - - - - -
?/? c.117G>T r.(=) p.(=) g.139918638C>A Copied from the Exome Variant Server ABCA2_000526 3/12460 3/8386 0/4074 - - - - - - -
?/? c.124C>T r.(=) p.(=) g.139918631G>A Copied from the Exome Variant Server ABCA2_000525 4/12480 0/8398 4/4082 - - - - - - -
?/? c.160+5G>A r.spl? p.? g.139918590C>T Copied from the Exome Variant Server ABCA2_000524 1/12518 1/8398 0/4120 - - - - - - -
?/? c.160+9G>A r.(=) p.(=) g.139918586C>T Copied from the Exome Variant Server ABCA2_000523 2/12502 0/8396 2/4106 - - - - - - -
?/? c.160+22A>G r.(=) p.(=) g.139918573T>C Copied from the Exome Variant Server ABCA2_000522 1/12490 0/8392 1/4098 - - - - - - -
?/? c.160+49C>T r.(=) p.(=) g.139918546G>A Copied from the Exome Variant Server ABCA2_000521 1/12690 1/8428 0/4262 - - - - - - -
?/? c.160+50G>A r.(=) p.(=) g.139918545C>T Copied from the Exome Variant Server ABCA2_000520 5/12728 5/8438 0/4290 - - - - - - -
?/? c.161-55_161-54del r.(=) p.(=) g.139918346_139918347del Copied from the Exome Variant Server ABCA2_000519 13/12310 9/8134 4/4176 - - - - - - -
?/? c.161-14C>T r.(=) p.(=) g.139918306G>A Copied from the Exome Variant Server ABCA2_000518 10/12700 10/8460 0/4240 - - - - - - -
?/? c.161-13G>T r.(=) p.(=) g.139918305C>A Copied from the Exome Variant Server ABCA2_000517 101/12684 99/8452 2/4232 - - - - - - -
?/? c.163+10C>A r.(=) p.(=) g.139918280G>T Copied from the Exome Variant Server ABCA2_000516 5/12560 5/8380 0/4180 - - - - - - -
?/? c.163+11G>A r.(=) p.(=) g.139918279C>T Copied from the Exome Variant Server ABCA2_000515 1/12530 1/8366 0/4164 - - - - - - -
?/? c.163+92_163+93insA r.(=) p.(=) g.139918197_139918198insT Copied from the Exome Variant Server ABCA2_000514 17/10960 1/7508 16/3452 - - - - - - -
?/? c.163+333C>T r.(=) p.(=) g.139917957G>A Copied from the Exome Variant Server ABCA2_000513 1/5728 1/3980 0/1748 - - - - - - -
?/? c.163+334G>A r.(=) p.(=) g.139917956C>T Copied from the Exome Variant Server ABCA2_000512 1/5726 0/3978 1/1748 - - - - - - -
?/? c.164-384G>A r.(=) p.(=) g.139917888C>T Copied from the Exome Variant Server ABCA2_000511 1/5732 0/3980 1/1752 - - - - - - -
?/? c.164-46_164-45del r.(=) p.(=) g.139917549_139917550del Copied from the Exome Variant Server ABCA2_000510 1701/11114 1191/7582 510/3532 - - - - - - -
?/? c.164-46_164-45dup r.(=) p.(=) g.139917549_139917550dup Copied from the Exome Variant Server ABCA2_000509 32/11114 21/7582 11/3532 - - - - - - -
?/? c.164-46_164-43del r.(=) p.(=) g.139917547_139917550del Copied from the Exome Variant Server ABCA2_000508 57/11114 42/7582 15/3532 - - - - - - -
?/? c.164-29G>A r.(=) p.(=) g.139917533C>T Copied from the Exome Variant Server ABCA2_000507 1/12168 1/8222 0/3946 - - - - - - -
?/? c.164-13G>A r.(=) p.(=) g.139917517C>T Copied from the Exome Variant Server ABCA2_000506 2/12272 1/8278 1/3994 - - - - - - -
?/? c.179C>T r.(?) p.(Ala60Val) g.139917489G>A Copied from the Exome Variant Server ABCA2_000505 2/12390 2/8328 0/4062 - - - - - - -
?/? c.189G>A r.(=) p.(=) g.139917479C>T Copied from the Exome Variant Server ABCA2_000504 1/12410 0/8344 1/4066 - - - - - - -
?/? c.216A>G r.(=) p.(=) g.139917452T>C Copied from the Exome Variant Server ABCA2_000503 3/12428 0/8338 3/4090 - - - - - - -
?/? c.275+8C>T r.(=) p.(=) g.139917385G>A Copied from the Exome Variant Server ABCA2_000502 1/12286 0/8280 1/4006 - - - - - - -
?/? c.275+24A>G r.(=) p.(=) g.139917369T>C Copied from the Exome Variant Server ABCA2_000501 2/12234 2/8256 0/3978 - - - - - - -
?/? c.275+32C>T r.(=) p.(=) g.139917361G>A Copied from the Exome Variant Server ABCA2_000500 2/12236 0/8264 2/3972 - - - - - - -
?/? c.275+33C>T r.(=) p.(=) g.139917360G>A Copied from the Exome Variant Server ABCA2_000499 1/12232 1/8266 0/3966 - - - - - - -
?/? c.276-12G>A r.(=) p.(=) g.139917329C>T Copied from the Exome Variant Server ABCA2_000498 1/12396 0/8334 1/4062 - - - - - - -
?/? c.339G>T r.(=) p.(=) g.139917254C>A Copied from the Exome Variant Server ABCA2_000497 1/12308 1/8298 0/4010 - - - - - - -
?/? c.404C>T r.(?) p.(Pro135Leu) g.139917189G>A Copied from the Exome Variant Server ABCA2_000496 12/12084 10/8230 2/3854 - - - - - - -
?/? c.440-19C>T r.(=) p.(=) g.139916949G>A Copied from the Exome Variant Server ABCA2_000495 3/12594 3/8414 0/4180 - - - - - - -
?/? c.440-18G>A r.(=) p.(=) g.139916948C>T Copied from the Exome Variant Server ABCA2_000494 2/12582 0/8408 2/4174 - - - - - - -
?/? c.461C>T r.(?) p.(Ser154Leu) g.139916909G>A Copied from the Exome Variant Server ABCA2_000493 1/12474 1/8376 0/4098 - - - - - - -
?/? c.477G>C r.(=) p.(=) g.139916893C>G Copied from the Exome Variant Server ABCA2_000492 1/12406 0/8334 1/4072 - - - - - - -
?/? c.491G>A r.(?) p.(Arg164His) g.139916879C>T Copied from the Exome Variant Server ABCA2_000491 721/12406 629/8338 92/4068 - - - - - - -
?/? c.527C>T r.(?) p.(Thr176Met) g.139916843G>A Copied from the Exome Variant Server ABCA2_000490 2/12336 1/8304 1/4032 - - - - - - -
?/? c.531C>A r.(=) p.(=) g.139916839G>T Copied from the Exome Variant Server ABCA2_000489 1/12310 1/8286 0/4024 - - - - - - -
?/? c.537A>C r.(=) p.(=) g.139916833T>G Copied from the Exome Variant Server ABCA2_000488 1471/12332 714/8288 757/4044 - - - - - - -
?/? c.550C>G r.(?) p.(Arg184Gly) g.139916820G>C Copied from the Exome Variant Server ABCA2_000486 1/12334 1/8290 0/4044 - - - - - - -
?/? c.568-42_568-36del r.(=) p.(=) g.139916489_139916495del Copied from the Exome Variant Server ABCA2_000484 3610/10670 2462/7288 1148/3382 - - - - - - -
?/? c.568-40_568-33del r.(=) p.(=) g.139916486_139916493del Copied from the Exome Variant Server ABCA2_000482 3487/10790 2345/7362 1142/3428 - - - - - - -
?/? c.568-33del r.(=) p.(=) g.139916486del Copied from the Exome Variant Server ABCA2_000487 823/10790 602/7362 221/3428 - - - - - - -
?/? c.568-33_568-32insC r.(=) p.(=) g.139916485_139916486insG Copied from the Exome Variant Server ABCA2_000485 2702/10822 1939/7390 763/3432 - - - - - - -
?/? c.568-36_568-29del r.(=) p.(=) g.139916482_139916489del Copied from the Exome Variant Server ABCA2_000483 2934/10822 1964/7390 970/3432 - - - - - - -
?/? c.568-19_568-18insCACCCCCATCTGAGCCA r.(=) p.(=) g.139916471_139916472insTGGCTCAGATGGGGGTG Copied from the Exome Variant Server ABCA2_000481 10165/10982 7255/7524 2910/3458 - - - - - - -
?/? c.591C>T r.(=) p.(=) g.139916430G>A Copied from the Exome Variant Server ABCA2_000480 9/12236 0/8288 9/3948 - - - - - - -
?/? c.653G>A r.(?) p.(Gly218Glu) g.139916368C>T Copied from the Exome Variant Server ABCA2_000479 1/12332 0/8312 1/4020 - - - - - - -
?/? c.725C>T r.(?) p.(Pro242Leu) g.139916016G>A Copied from the Exome Variant Server ABCA2_000478 7/12104 7/8206 0/3898 - - - - - - -
?/? c.732G>A r.(=) p.(=) g.139916009C>T Copied from the Exome Variant Server ABCA2_000477 2/12334 1/8314 1/4020 - - - - - - -
?/? c.801T>G r.(=) p.(=) g.139915940A>C Copied from the Exome Variant Server ABCA2_000476 227/12886 210/8550 17/4336 - - - - - - -
?/? c.825G>A r.(=) p.(=) g.139915916C>T Copied from the Exome Variant Server ABCA2_000475 1/12924 0/8574 1/4350 - - - - - - -
?/? c.835C>A r.(?) p.(Arg279Ser) g.139915906G>T Copied from the Exome Variant Server ABCA2_000474 1/12954 0/8580 1/4374 - - - - - - -
?/? c.897+6G>A r.(=) p.(=) g.139915838C>T Copied from the Exome Variant Server ABCA2_000473 1/12924 0/8558 1/4366 - - - - - - -
?/? c.897+25C>T r.(=) p.(=) g.139915819G>A Copied from the Exome Variant Server ABCA2_000472 101/12888 99/8538 2/4350 - - - - - - -
?/? c.897+31G>A r.(=) p.(=) g.139915813C>T Copied from the Exome Variant Server ABCA2_000471 1/12874 0/8530 1/4344 - - - - - - -
?/? c.898-30C>T r.(=) p.(=) g.139915543G>A Copied from the Exome Variant Server ABCA2_000470 1/12592 0/8360 1/4232 - - - - - - -
?/? c.898-29G>A r.(=) p.(=) g.139915542C>T Copied from the Exome Variant Server ABCA2_000469 666/12614 563/8374 103/4240 - - - - - - -
?/? c.942G>A r.(=) p.(=) g.139915469C>T Copied from the Exome Variant Server ABCA2_000468 14/11892 13/8020 1/3872 - - - - - - -
?/? c.965C>T r.(?) p.(Ala322Val) g.139915446G>A Copied from the Exome Variant Server ABCA2_000467 1/11740 0/7998 1/3742 - - - - - - -
?/? c.1071C>T r.(=) p.(=) g.139915340G>A Copied from the Exome Variant Server ABCA2_000466 11/10956 9/7544 2/3412 - - - - - - -
?/? c.1091C>T r.(?) p.(Ala364Val) g.139915320G>A Copied from the Exome Variant Server ABCA2_000465 26/10784 2/7448 24/3336 - - - - - - -
?/? c.1099G>A r.(?) p.(Ala367Thr) g.139915312C>T Copied from the Exome Variant Server ABCA2_000464 3/11098 0/7594 3/3504 - - - - - - -
?/? c.1128C>T r.(=) p.(=) g.139915283G>A Copied from the Exome Variant Server ABCA2_000463 1/11968 1/8080 0/3888 - - - - - - -
?/? c.1129A>G r.(?) p.(Met377Val) g.139915282T>C Copied from the Exome Variant Server ABCA2_000462 1/11994 1/8088 0/3906 - - - - - - -
?/? c.1177C>T r.(=) p.(=) g.139915234G>A Copied from the Exome Variant Server ABCA2_000461 1/12162 1/8196 0/3966 - - - - - - -
?/? c.1193C>A r.(?) p.(Thr398Lys) g.139915218G>T Copied from the Exome Variant Server ABCA2_000460 28/12180 27/8190 1/3990 - - - - - - -
?/? c.1194G>A r.(=) p.(=) g.139915217C>T Copied from the Exome Variant Server ABCA2_000459 4/12206 4/8206 0/4000 - - - - - - -
?/? c.1195C>T r.(=) p.(=) g.139915216G>A Copied from the Exome Variant Server ABCA2_000458 27/12206 0/8206 27/4000 - - - - - - -
?/? c.1233C>A r.(=) p.(=) g.139915178G>T Copied from the Exome Variant Server ABCA2_000457 1/12218 0/8222 1/3996 - - - - - - -
?/? c.1263C>T r.(=) p.(=) g.139915148G>A Copied from the Exome Variant Server ABCA2_000456 137/12060 1/8122 136/3938 - - - - - - -
?/? c.1265+10C>T r.(=) p.(=) g.139915136G>A Copied from the Exome Variant Server ABCA2_000455 23/11918 0/8056 23/3862 - - - - - - -
?/? c.1265+11G>A r.(=) p.(=) g.139915135C>T Copied from the Exome Variant Server ABCA2_000454 1/11868 0/8036 1/3832 - - - - - - -
?/? c.1266-33C>T r.(=) p.(=) g.139914980G>A Copied from the Exome Variant Server ABCA2_000453 77/12150 0/8232 77/3918 - - - - - - -
?/? c.1266-6C>T r.(=) p.(=) g.139914953G>A Copied from the Exome Variant Server ABCA2_000452 1/12190 1/8262 0/3928 - - - - - - -
?/? c.1320G>A r.(=) p.(=) g.139914893C>T Copied from the Exome Variant Server ABCA2_000451 68/12796 62/8490 6/4306 - - - - - - -
?/? c.1351G>A r.(?) p.(Val451Met) g.139914862C>T Copied from the Exome Variant Server ABCA2_000450 1/12836 1/8522 0/4314 - - - - - - -
?/? c.1386C>T r.(=) p.(=) g.139914827G>A Copied from the Exome Variant Server ABCA2_000449 24/12780 1/8498 23/4282 - - - - - - -
?/? c.1389G>A r.(=) p.(=) g.139914824C>T Copied from the Exome Variant Server ABCA2_000448 1/12754 0/8484 1/4270 - - - - - - -
?/? c.1394C>T r.(?) p.(Ala465Val) g.139914819G>A Copied from the Exome Variant Server ABCA2_000447 7/12734 7/8476 0/4258 - - - - - - -
?/? c.1395G>A r.(=) p.(=) g.139914818C>T Copied from the Exome Variant Server ABCA2_000446 1/12732 1/8474 0/4258 - - - - - - -
?/? c.1407C>T r.(=) p.(=) g.139914806G>A Copied from the Exome Variant Server ABCA2_000445 1/12706 1/8464 0/4242 - - - - - - -
?/? c.1426-19C>T r.(=) p.(=) g.139913777G>A Copied from the Exome Variant Server ABCA2_000444 1/12340 1/8322 0/4018 - - - - - - -
?/? c.1426-10C>T r.(=) p.(=) g.139913768G>A Copied from the Exome Variant Server ABCA2_000443 1/12394 0/8346 1/4048 - - - - - - -
?/? c.1471C>G r.(?) p.(Gln491Glu) g.139913713G>C Copied from the Exome Variant Server ABCA2_000442 2/12542 2/8410 0/4132 - - - - - - -
?/? c.1487T>A r.(?) p.(Ile496Asn) g.139913697A>T Copied from the Exome Variant Server ABCA2_000441 1/12548 1/8414 0/4134 - - - - - - -
?/? c.1493C>T r.(?) p.(Ala498Val) g.139913691G>A Copied from the Exome Variant Server ABCA2_000440 1/12548 0/8398 1/4150 - - - - - - -
?/? c.1554+26C>T r.(=) p.(=) g.139913604G>A Copied from the Exome Variant Server ABCA2_000439 1/12276 0/8280 1/3996 - - - - - - -
?/? c.1554+27G>A r.(=) p.(=) g.139913603C>T Copied from the Exome Variant Server ABCA2_000438 1/12256 1/8272 0/3984 - - - - - - -
?/? c.1555-47G>A r.(=) p.(=) g.139913569C>T Copied from the Exome Variant Server ABCA2_000437 2/12130 1/8222 1/3908 - - - - - - -
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