All variants in the ABCA12 gene

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

3028 entries on 31 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

gnomAD frequency     

gnomAD homozygote count     
c.-38A>T r.(=) p.(=) g.216002969T>A - rs778125829 1/246030 0/123014
c.-34G>C r.(=) p.(=) g.216002965C>G - rs181894731 8/246030 0/123006
c.-34G>A r.(=) p.(=) g.216002965C>T - rs181894731 1/246030 0/123006
c.-32A>G r.(=) p.(=) g.216002963T>C - - 1/246076 0/123037
c.-23C>T r.(=) p.(=) g.216002954G>A - rs753031943 1/246066 0/123032
c.-15delT r.(=) p.(=) g.216002946del - rs766442590 1/246146 0/123072
c.-10C>T r.(=) p.(=) g.216002941G>A - - 1/246148 0/123073
c.-8T>C r.(=) p.(=) g.216002939A>G - rs765549092 2/246164 0/123080
c.*8delAinsC r.(=) p.(=) g.215797350T>G - rs780351146 1/245212 0/122604
c.7437-8delCinsA r.(=) p.(=) g.215802347G>T - rs769469977 1/245428 0/122712
c.7324delGinsA r.(?) p.(Val2442Ile) g.215809744C>T - rs148434996 11/245654 0/122812
c.7138delAinsC r.(?) p.(Met2380Leu) g.215812247T>G - rs754001328 1/245924 0/122957
c.7029delTinsC r.(?) p.(Asp2343=) g.215813395A>G - - 1/246092 0/123044
c.6962+36delAinsG r.(=) p.(=) g.215813728T>C - rs772093159 1/245856 0/122927
c.6444delAinsT r.(?) p.(LeuIlePhePro2145=) g.215818781T>A - rs568164233 1/245872 0/122933
c.6444delAinsG r.(?) p.(LeuIlePhePro2145=) g.215818781T>C - rs568164233 1/245872 0/122933
c.6416delCinsT r.(?) p.(Thr2139Ile) g.215818809G>A - rs747323347 2/245560 0/122777
c.6381delGinsA r.(?) p.(Lys2127=) g.215819938C>T - - 1/246158 0/123077
c.6233+32delTinsC r.(=) p.(=) g.215821355A>G - rs761584044 1/244114 0/122028
c.5940-49delGinsT r.(=) p.(=) g.215823227C>A - rs766601518 1/231802 0/115896
c.5778+6delTinsG r.(=) p.(=) g.215833438A>C - rs758885900 1/245808 0/122898
c.5778+6delTinsC r.(=) p.(=) g.215833438A>G - rs758885900 2/245808 0/122898
c.5691-44delTinsC r.(=) p.(=) g.215833575A>G - rs748835358 1/243336 0/121662
c.5690+13delGinsA r.(=) p.(=) g.215834984C>T - rs202217871 24/244158 0/122051
c.5563-15delAinsG r.(=) p.(=) g.215835139T>C - rs201736002 3/245466 0/122729
c.4999delGinsA r.(?) p.(Glu1667Lys) g.215843169C>T - rs769950193 1/244824 0/122410
c.4106delAinsG r.(?) p.(Tyr1369Cys) g.215851323T>C - - 1/246106 0/123051
c.3441delGinsA r.(?) p.(Leu1147=) g.215855609C>T - rs759208839 1/246166 0/123081
c.3179+40delCinsT r.(=) p.(=) g.215865389G>A - - 2/242034 0/121010
c.3021delAinsG r.(?) p.(Pro1007=) g.215865587T>C - rs749508474 1/246158 0/123077
c.2684-24delGinsT r.(=) p.(=) g.215866485C>A - rs559529333 38/206880 0/103276
c.2684-24delGinsC r.(=) p.(=) g.215866485C>G - rs559529333 1/206880 0/103276
c.2473-12delTinsC r.(=) p.(=) g.215872582A>G - rs774899146 1/245848 0/122922
c.2182delGinsA r.(?) p.(Ala728Thr) g.215876313C>T - - 1/246058 0/123026
c.1287+6delCinsA r.(=) p.(=) g.215890391G>T - - 5/210246 0/105114
c.465delCinsG r.(?) p.(Phe155Leu) g.215917253G>C - rs763618749 1/245680 0/122837
c.410-31delGinsA r.(=) p.(=) g.215917339C>T - rs139246428 7/204392 0/98640
c.164-8delAinsT r.(=) p.(=) g.215928950T>A - rs773853717 0/245240 0/122605
c.69+16delGinsT r.(=) p.(=) g.216002847C>A - rs753712967 1/245574 0/122781
c.1A>G r.(?) p.(Met1?) g.216002931T>C - - 1/246170 0/123084
c.14T>C r.(?) p.(Phe5Ser) g.216002918A>G - rs755362627 4/246180 0/123086
c.16C>G r.(?) p.(His6Asp) g.216002916G>C - - 1/246150 0/123074
c.17A>G r.(?) p.(His6Arg) g.216002915T>C - rs142742451 1/246184 0/123091
c.28A>G r.(?) p.(Ile10Val) g.216002904T>C - - 1/246118 0/123058
c.30C>A r.(?) p.(Ile10=) g.216002902G>T - rs757204066 3/246156 0/123075
c.34G>A r.(?) p.(Val12Ile) g.216002898C>T - rs530049071 1/246126 0/123062
c.35T>G r.(?) p.(Val12Gly) g.216002897A>C - rs760099478 3/246142 0/123068
c.37T>C r.(?) p.(Trp13Arg) g.216002895A>G - rs772837712 1/246136 0/123067
c.39G>C r.(?) p.(Trp13Cys) g.216002893C>G - - 1/246132 0/123065
c.55G>A r.(?) p.(Val19Ile) g.216002877C>T - - 1/246068 0/123033
c.57A>G r.(?) p.(Val19=) g.216002875T>C - rs767336734 4/246108 0/123050
c.69+3G>A r.spl? p.? g.216002860C>T - rs761768258 3/245916 0/122955
c.69+5G>A r.spl? p.? g.216002858C>T - rs774450846 1/245880 0/122939
c.69+14A>T r.(=) p.(=) g.216002849T>A - - 1/245732 0/122865
c.69+15dupA r.(=) p.(=) g.216002848dup - rs753712967 4/245574 0/122781
c.69+15delA r.(=) p.(=) g.216002848del - rs753712967 1/245574 0/122781
c.69+15A>G r.(=) p.(=) g.216002848T>C - rs768512794 1/245588 0/122791
c.69+15A>C r.(=) p.(=) g.216002848T>G - rs768512794 1/245588 0/122791
c.69+17T>C r.(=) p.(=) g.216002846A>G - - 1/245780 0/122889
c.69+18G>C r.(=) p.(=) g.216002845C>G - rs749098707 1/245746 0/122872
c.69+25T>C r.(=) p.(=) g.216002838A>G - - 1/245602 0/122800
c.69+26A>G r.(=) p.(=) g.216002837T>C - - 1/245602 0/122800
c.69+29G>A r.(=) p.(=) g.216002834C>T - - 1/245480 0/122739
c.69+31T>A r.(=) p.(=) g.216002832A>T - - 1/245420 0/122709
c.69+34T>C r.(=) p.(=) g.216002829A>G - rs41329246 2331/245368 141/120494
c.69+39C>T r.(=) p.(=) g.216002824G>A - rs747034627 4/245160 0/122575
c.69+39C>A r.(=) p.(=) g.216002824G>T - rs747034627 1/245160 0/122575
c.69+43A>G r.(=) p.(=) g.216002820T>C - rs377657170 1/245102 0/122550
c.69+44C>T r.(=) p.(=) g.216002819G>A - rs373991116 7/245052 0/122519
c.69+45G>T r.(=) p.(=) g.216002818C>A - rs369522596 25/244952 1/122440
c.69+45G>A r.(=) p.(=) g.216002818C>T - rs369522596 12/244952 0/122440
c.69+47C>T r.(=) p.(=) g.216002816G>A - - 1/244936 0/122467
c.69+50G>A r.(=) p.(=) g.216002813C>T - - 4/244838 0/122415
c.70-50T>A r.(=) p.(=) g.215976463A>T - - 1/236570 0/118284
c.70-44G>C r.(=) p.(=) g.215976457C>G - - 2/238156 0/119076
c.70-38C>A r.(=) p.(=) g.215976451G>T - rs755841163 2/240750 0/120373
c.70-34A>G r.(=) p.(=) g.215976447T>C - rs750071604 2/243066 0/121531
c.70-28A>G r.(=) p.(=) g.215976441T>C - rs563097303 218/244038 4/121804
c.70-27A>G r.(=) p.(=) g.215976440T>C - - 1/243758 0/121877
c.70-27_70-26insAGTGGTAC r.(=) p.(=) g.215976439_215976440insGTACCACT - rs763877314 2/243992 0/121992
c.70-26C>T r.(=) p.(=) g.215976439G>A - rs763877314 1/243992 0/121992
c.70-26_70-25insCAAAATA r.(=) p.(=) g.215976438_215976439insTATTTTG - rs775265638 0/244388 0/122179
c.70-25A>T r.(=) p.(=) g.215976438T>A - rs775265638 14/244388 0/122179
c.70-20T>C r.(=) p.(=) g.215976433A>G - - 1/244496 0/122247
c.70-15A>G r.(=) p.(=) g.215976428T>C - - 1/244376 0/122187
c.70-12A>G r.(=) p.(=) g.215976425T>C - - 1/244598 0/122298
c.70-11T>C r.(=) p.(=) g.215976424A>G - - 1/244710 0/122354
c.70-9A>G r.(=) p.(=) g.215976422T>C - rs372209510 3/244618 0/122306
c.77C>T r.(?) p.(Thr26Ile) g.215976406G>A - rs558868560 2/245514 0/122755
c.77_78insGCCCAGGCTGGAGTG r.(?) p.(Thr26_Leu27insProArgLeuGluTer) g.215976405_215976406insCACTCCAGCCTGGGC - rs111329351 1/245456 0/122722
c.78A>G r.(?) p.(Thr26=) g.215976405T>C - rs111329351 5/245456 0/122722
c.79C>A r.(?) p.(Leu27Ile) g.215976404G>T - rs771024663 2/245726 0/122860
c.79C>T r.(?) p.(Leu27Phe) g.215976404G>A - rs771024663 1/245726 0/122860
c.83T>A r.(?) p.(Val28Asp) g.215976400A>T - - 1/245790 0/122894
c.88A>C r.(?) p.(Ile30Leu) g.215976395T>G - - 1/245830 0/122914
c.90C>G r.(?) p.(Ile30Met) g.215976393G>C - rs760914602 1/245862 0/122930
c.101T>C r.(?) p.(Val34Ala) g.215976382A>G - rs201228799 10/245916 0/122948
c.103A>G r.(?) p.(Ile35Val) g.215976380T>C - - 1/245924 0/122961
c.104T>A r.(?) p.(Ile35Asn) g.215976379A>T - rs772136797 1/245910 0/122954
c.126T>A r.(?) p.(Ile42=) g.215976357A>T - rs779392897 4/245968 0/122980
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