Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.214990824A>C | CA350468820 | ABCA12 | c.3502T>G (p.Phe1168Val) c.2548T>G (p.Phe850Val) n.3802T>G n.4000T>G | |
2 | g.214990824A>G | CA350468821 | ABCA12 | c.3502T>C (p.Phe1168Leu) c.2548T>C (p.Phe850Leu) n.3802T>C n.4000T>C | |
2 | g.214990824A>T | CA350468824 | ABCA12 | c.3502T>A (p.Phe1168Ile) c.2548T>A (p.Phe850Ile) n.3802T>A n.4000T>A | |
2 | g.214990825G>A | CA431388086 | ABCA12 | c.3501C>T (p.Val1167=) c.2547C>T (p.Val849=) n.3801C>T n.3999C>T | |
2 | g.214990825G>C | CA431388087 | ABCA12 | c.3501C>G (p.Val1167=) c.2547C>G (p.Val849=) n.3801C>G n.3999C>G | |
2 | g.214990825G>T | CA431388088 | ABCA12 | c.3501C>A (p.Val1167=) c.2547C>A (p.Val849=) n.3801C>A n.3999C>A | |
2 | g.214990826A>C | CA350468827 | ABCA12 | c.3500T>G (p.Val1167Gly) c.2546T>G (p.Val849Gly) n.3800T>G n.3998T>G | |
2 | g.214990826A>G | CA350468833 | ABCA12 | c.3500T>C (p.Val1167Ala) c.2546T>C (p.Val849Ala) n.3800T>C n.3998T>C | |
2 | g.214990826A>T | CA350468832 | ABCA12 | c.3500T>A (p.Val1167Asp) c.2546T>A (p.Val849Asp) n.3800T>A n.3998T>A | |
2 | g.214990827C>A | CA350468834 | ABCA12 | c.3499G>T (p.Val1167Phe) c.2545G>T (p.Val849Phe) n.3799G>T n.3997G>T | |
2 | g.214990827C>G | CA350468835 | ABCA12 | c.3499G>C (p.Val1167Leu) c.2545G>C (p.Val849Leu) n.3799G>C n.3997G>C | |
2 | g.214990827C>T | CA350468836 | ABCA12 | c.3499G>A (p.Val1167Ile) c.2545G>A (p.Val849Ile) n.3799G>A n.3997G>A | COSMIC COSMIC |
2 | g.214990828A>C | CA350468837 | ABCA12 | c.3498T>G (p.Ser1166Arg) c.2544T>G (p.Ser848Arg) n.3798T>G n.3996T>G | |
2 | g.214990828A>G | CA431388092 | ABCA12 | c.3498T>C (p.Ser1166=) c.2544T>C (p.Ser848=) n.3798T>C n.3996T>C | |
2 | g.214990828A>T | CA350468838 | ABCA12 | c.3498T>A (p.Ser1166Arg) c.2544T>A (p.Ser848Arg) n.3798T>A n.3996T>A | |
2 | g.214990829C>A | CA350468839 | ABCA12 | c.3497G>T (p.Ser1166Ile) c.2543G>T (p.Ser848Ile) n.3797G>T n.3995G>T | |
2 | g.214990829C= | CA1327165366 | ABCA12 | c.3497G= (p.Ser1166=) c.2543G= (p.Ser848=) n.3797G= n.3995G= | |
2 | g.214990829C>G | CA350468840 | ABCA12 | c.3497G>C (p.Ser1166Thr) c.2543G>C (p.Ser848Thr) n.3797G>C n.3995G>C | gnomAD v4 |
2 | g.214990829C>T | CA350468841 | ABCA12 | c.3497G>A (p.Ser1166Asn) c.2543G>A (p.Ser848Asn) n.3797G>A n.3995G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990830T>A | CA350468842 | ABCA12 | c.3496A>T (p.Ser1166Cys) c.2542A>T (p.Ser848Cys) n.3796A>T n.3994A>T | |
2 | g.214990830T>C | CA2091722 | ABCA12 | c.3496A>G (p.Ser1166Gly) c.2542A>G (p.Ser848Gly) n.3796A>G n.3994A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214990830T>G | CA350468843 | ABCA12 | c.3496A>C (p.Ser1166Arg) c.2542A>C (p.Ser848Arg) n.3796A>C n.3994A>C | |
2 | g.214990830T= | CA1327165367 | ABCA12 | c.3496A= (p.Ser1166=) c.2542A= (p.Ser848=) n.3796A= n.3994A= | |
2 | g.214990831G>A | CA2091723 | ABCA12 | c.3495C>T (p.Ile1165=) c.2541C>T (p.Ile847=) n.3795C>T n.3993C>T | dbSNP ExAC gnomAD v4 |
2 | g.214990831G>C | CA350468844 | ABCA12 | c.3495C>G (p.Ile1165Met) c.2541C>G (p.Ile847Met) n.3795C>G n.3993C>G | |
2 | g.214990831G= | CA1327165368 | ABCA12 | c.3495C= (p.Ile1165=) c.2541C= (p.Ile847=) n.3795C= n.3993C= | |
2 | g.214990831G>T | CA431388094 | ABCA12 | c.3495C>A (p.Ile1165=) c.2541C>A (p.Ile847=) n.3795C>A n.3993C>A | |
2 | g.214990832A= | CA1327165369 | ABCA12 | c.3494T= (p.Ile1165=) c.2540T= (p.Ile847=) n.3794T= n.3992T= | |
2 | g.214990832A>C | CA350468847 | ABCA12 | c.3494T>G (p.Ile1165Ser) c.2540T>G (p.Ile847Ser) n.3794T>G n.3992T>G | |
2 | g.214990832A>G | CA350468845 | ABCA12 | c.3494T>C (p.Ile1165Thr) c.2540T>C (p.Ile847Thr) n.3794T>C n.3992T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990832A>T | CA350468846 | ABCA12 | c.3494T>A (p.Ile1165Asn) c.2540T>A (p.Ile847Asn) n.3794T>A n.3992T>A | gnomAD v4 |
2 | g.214990833T>A | CA350468848 | ABCA12 | c.3493A>T (p.Ile1165Phe) c.2539A>T (p.Ile847Phe) n.3793A>T n.3991A>T | |
2 | g.214990833T>C | CA350468849 | ABCA12 | c.3493A>G (p.Ile1165Val) c.2539A>G (p.Ile847Val) n.3793A>G n.3991A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990833T>G | CA350468850 | ABCA12 | c.3493A>C (p.Ile1165Leu) c.2539A>C (p.Ile847Leu) n.3793A>C n.3991A>C | |
2 | g.214990833T= | CA1327165370 | ABCA12 | c.3493A= (p.Ile1165=) c.2539A= (p.Ile847=) n.3793A= n.3991A= | |
2 | g.214990834A>C | CA431388095 | ABCA12 | c.3492T>G (p.Leu1164=) c.2538T>G (p.Leu846=) n.3792T>G n.3990T>G | |
2 | g.214990834A>G | CA431388096 | ABCA12 | c.3492T>C (p.Leu1164=) c.2538T>C (p.Leu846=) n.3792T>C n.3990T>C | gnomAD v4 |
2 | g.214990834A>T | CA431388098 | ABCA12 | c.3492T>A (p.Leu1164=) c.2538T>A (p.Leu846=) n.3792T>A n.3990T>A | |
2 | g.214990835_214990853del | CA2662978894 | ABCA12 | c.3474_3492del (p.Ile1159SerfsTer13) c.2520_2538del (p.Ile841SerfsTer13) n.3774_3792del n.3972_3990del | gnomAD v4 |
2 | g.214990835A>C | CA350468851 | ABCA12 | c.3491T>G (p.Leu1164Arg) c.2537T>G (p.Leu846Arg) n.3791T>G n.3989T>G | |
2 | g.214990835A>G | CA350468852 | ABCA12 | c.3491T>C (p.Leu1164Pro) c.2537T>C (p.Leu846Pro) n.3791T>C n.3989T>C | |
2 | g.214990835A>T | CA350468853 | ABCA12 | c.3491T>A (p.Leu1164His) c.2537T>A (p.Leu846His) n.3791T>A n.3989T>A | |
2 | g.214990836G>A | CA350468854 | ABCA12 | c.3490C>T (p.Leu1164Phe) c.2536C>T (p.Leu846Phe) n.3790C>T n.3988C>T | |
2 | g.214990836G>C | CA350468855 | ABCA12 | c.3490C>G (p.Leu1164Val) c.2536C>G (p.Leu846Val) n.3790C>G n.3988C>G | |
2 | g.214990836G>T | CA350468856 | ABCA12 | c.3490C>A (p.Leu1164Ile) c.2536C>A (p.Leu846Ile) n.3790C>A n.3988C>A | |
2 | g.214990837A>C | CA350468857 | ABCA12 | c.3489T>G (p.Tyr1163Ter) c.2535T>G (p.Tyr845Ter) n.3789T>G n.3987T>G | |
2 | g.214990837A>G | CA431388101 | ABCA12 | c.3489T>C (p.Tyr1163=) c.2535T>C (p.Tyr845=) n.3789T>C n.3987T>C | |
2 | g.214990837A>T | CA350468858 | ABCA12 | c.3489T>A (p.Tyr1163Ter) c.2535T>A (p.Tyr845Ter) n.3789T>A n.3987T>A | |
2 | g.214990838T>A | CA350468859 | ABCA12 | c.3488A>T (p.Tyr1163Phe) c.2534A>T (p.Tyr845Phe) n.3788A>T n.3986A>T | ClinVar gnomAD v4 |
2 | g.214990838T>C | CA2091724 | ABCA12 | c.3488A>G (p.Tyr1163Cys) c.2534A>G (p.Tyr845Cys) n.3788A>G n.3986A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990838T>G | CA350468860 | ABCA12 | c.3488A>C (p.Tyr1163Ser) c.2534A>C (p.Tyr845Ser) n.3788A>C n.3986A>C | gnomAD v4 |
2 | g.214990838T= | CA1327165371 | ABCA12 | c.3488A= (p.Tyr1163=) c.2534A= (p.Tyr845=) n.3788A= n.3986A= | |
2 | g.214990839A>C | CA350468861 | ABCA12 | c.3487T>G (p.Tyr1163Asp) c.2533T>G (p.Tyr845Asp) n.3787T>G n.3985T>G | |
2 | g.214990839A>G | CA350468863 | ABCA12 | c.3487T>C (p.Tyr1163His) c.2533T>C (p.Tyr845His) n.3787T>C n.3985T>C | COSMIC COSMIC |
2 | g.214990839A>T | CA350468862 | ABCA12 | c.3487T>A (p.Tyr1163Asn) c.2533T>A (p.Tyr845Asn) n.3787T>A n.3985T>A | |
2 | g.214990840G>A | CA431388103 | ABCA12 | c.3486C>T (p.Ser1162=) c.2532C>T (p.Ser844=) n.3786C>T n.3984C>T | dbSNP |
2 | g.214990840G>C | CA350468864 | ABCA12 | c.3486C>G (p.Ser1162Arg) c.2532C>G (p.Ser844Arg) n.3786C>G n.3984C>G | |
2 | g.214990840G= | CA1327165372 | ABCA12 | c.3486C= (p.Ser1162=) c.2532C= (p.Ser844=) n.3786C= n.3984C= | |
2 | g.214990840G>T | CA350468865 | ABCA12 | c.3486C>A (p.Ser1162Arg) c.2532C>A (p.Ser844Arg) n.3786C>A n.3984C>A | |
2 | g.214990841C>A | CA350468866 | ABCA12 | c.3485G>T (p.Ser1162Ile) c.2531G>T (p.Ser844Ile) n.3785G>T n.3983G>T | |
2 | g.214990841C>G | CA350468867 | ABCA12 | c.3485G>C (p.Ser1162Thr) c.2531G>C (p.Ser844Thr) n.3785G>C n.3983G>C | |
2 | g.214990841C>T | CA350468868 | ABCA12 | c.3485G>A (p.Ser1162Asn) c.2531G>A (p.Ser844Asn) n.3785G>A n.3983G>A | |
2 | g.214990842T>A | CA350468869 | ABCA12 | c.3484A>T (p.Ser1162Cys) c.2530A>T (p.Ser844Cys) n.3784A>T n.3982A>T | |
2 | g.214990842T>C | CA350468870 | ABCA12 | c.3484A>G (p.Ser1162Gly) c.2530A>G (p.Ser844Gly) n.3784A>G n.3982A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990842T>G | CA350468871 | ABCA12 | c.3484A>C (p.Ser1162Arg) c.2530A>C (p.Ser844Arg) n.3784A>C n.3982A>C | |
2 | g.214990842T= | CA1327165373 | ABCA12 | c.3484A= (p.Ser1162=) c.2530A= (p.Ser844=) n.3784A= n.3982A= | |
2 | g.214990843C>A | CA350468872 | ABCA12 | c.3483G>T (p.Met1161Ile) c.2529G>T (p.Met843Ile) n.3783G>T n.3981G>T | |
2 | g.214990843C= | CA1327165374 | ABCA12 | c.3483G= (p.Met1161=) c.2529G= (p.Met843=) n.3783G= n.3981G= | |
2 | g.214990843C>G | CA350468873 | ABCA12 | c.3483G>C (p.Met1161Ile) c.2529G>C (p.Met843Ile) n.3783G>C n.3981G>C | |
2 | g.214990843C>T | CA2091725 | ABCA12 | c.3483G>A (p.Met1161Ile) c.2529G>A (p.Met843Ile) n.3783G>A n.3981G>A | dbSNP ExAC gnomAD v2 |
2 | g.214990844A>C | CA350468874 | ABCA12 | c.3482T>G (p.Met1161Arg) c.2528T>G (p.Met843Arg) n.3782T>G n.3980T>G | gnomAD v4 |
2 | g.214990844A>G | CA350468875 | ABCA12 | c.3482T>C (p.Met1161Thr) c.2528T>C (p.Met843Thr) n.3782T>C n.3980T>C | |
2 | g.214990844A>T | CA350468876 | ABCA12 | c.3482T>A (p.Met1161Lys) c.2528T>A (p.Met843Lys) n.3782T>A n.3980T>A | |
2 | g.214990845T>A | CA2091726 | ABCA12 | c.3481A>T (p.Met1161Leu) c.2527A>T (p.Met843Leu) n.3781A>T n.3979A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990845T>C | CA350468880 | ABCA12 | c.3481A>G (p.Met1161Val) c.2527A>G (p.Met843Val) n.3781A>G n.3979A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990845T>G | CA350468878 | ABCA12 | c.3481A>C (p.Met1161Leu) c.2527A>C (p.Met843Leu) n.3781A>C n.3979A>C | |
2 | g.214990845T= | CA1327165375 | ABCA12 | c.3481A= (p.Met1161=) c.2527A= (p.Met843=) n.3781A= n.3979A= | |
2 | g.214990845_214990945del | CA913089815 | ABCA12 | c.3381_3481del (p.Ile1128GlufsTer?) c.2427_2527del (p.Ile810GlufsTer?) n.3681_3781del n.3879_3979del | ClinVar |
2 | g.214990846G>A | CA64827658 | ABCA12 | c.3480C>T (p.Ala1160=) c.2526C>T (p.Ala842=) n.3780C>T n.3978C>T | dbSNP |
2 | g.214990846G>C | CA431388107 | ABCA12 | c.3480C>G (p.Ala1160=) c.2526C>G (p.Ala842=) n.3780C>G n.3978C>G | |
2 | g.214990846G= | CA1327165376 | ABCA12 | c.3480C= (p.Ala1160=) c.2526C= (p.Ala842=) n.3780C= n.3978C= | |
2 | g.214990846G>T | CA431388108 | ABCA12 | c.3480C>A (p.Ala1160=) c.2526C>A (p.Ala842=) n.3780C>A n.3978C>A | |
2 | g.214990847G>A | CA350468883 | ABCA12 | c.3479C>T (p.Ala1160Val) c.2525C>T (p.Ala842Val) n.3779C>T n.3977C>T | |
2 | g.214990847G>C | CA350468885 | ABCA12 | c.3479C>G (p.Ala1160Gly) c.2525C>G (p.Ala842Gly) n.3779C>G n.3977C>G | |
2 | g.214990847G= | CA1327165377 | ABCA12 | c.3479C= (p.Ala1160=) c.2525C= (p.Ala842=) n.3779C= n.3977C= | |
2 | g.214990847G>T | CA350468887 | ABCA12 | c.3479C>A (p.Ala1160Asp) c.2525C>A (p.Ala842Asp) n.3779C>A n.3977C>A | dbSNP |
2 | g.214990848C>A | CA350468888 | ABCA12 | c.3478G>T (p.Ala1160Ser) c.2524G>T (p.Ala842Ser) n.3778G>T n.3976G>T | |
2 | g.214990848C= | CA1327165378 | ABCA12 | c.3478G= (p.Ala1160=) c.2524G= (p.Ala842=) n.3778G= n.3976G= | |
2 | g.214990848C>G | CA350468889 | ABCA12 | c.3478G>C (p.Ala1160Pro) c.2524G>C (p.Ala842Pro) n.3778G>C n.3976G>C | |
2 | g.214990848C>T | CA64827670 | ABCA12 | c.3478G>A (p.Ala1160Thr) c.2524G>A (p.Ala842Thr) n.3778G>A n.3976G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990849A>C | CA350468893 | ABCA12 | c.3477T>G (p.Ile1159Met) c.2523T>G (p.Ile841Met) n.3777T>G n.3975T>G | |
2 | g.214990849A>G | CA431388114 | ABCA12 | c.3477T>C (p.Ile1159=) c.2523T>C (p.Ile841=) n.3777T>C n.3975T>C | |
2 | g.214990849A>T | CA431388112 | ABCA12 | c.3477T>A (p.Ile1159=) c.2523T>A (p.Ile841=) n.3777T>A n.3975T>A | |
2 | g.214990850A>C | CA350468895 | ABCA12 | c.3476T>G (p.Ile1159Ser) c.2522T>G (p.Ile841Ser) n.3776T>G n.3974T>G | |
2 | g.214990850A>G | CA350468898 | ABCA12 | c.3476T>C (p.Ile1159Thr) c.2522T>C (p.Ile841Thr) n.3776T>C n.3974T>C | |
2 | g.214990850A>T | CA350468899 | ABCA12 | c.3476T>A (p.Ile1159Asn) c.2522T>A (p.Ile841Asn) n.3776T>A n.3974T>A | |
2 | g.214990851T>A | CA350468903 | ABCA12 | c.3475A>T (p.Ile1159Phe) c.2521A>T (p.Ile841Phe) n.3775A>T n.3973A>T | |
2 | g.214990851T>C | CA350468904 | ABCA12 | c.3475A>G (p.Ile1159Val) c.2521A>G (p.Ile841Val) n.3775A>G n.3973A>G | gnomAD v4 |
2 | g.214990851T>G | CA350468906 | ABCA12 | c.3475A>C (p.Ile1159Leu) c.2521A>C (p.Ile841Leu) n.3775A>C n.3973A>C | |
2 | g.214990852A>C | CA431388116 | ABCA12 | c.3474T>G (p.Val1158=) c.2520T>G (p.Val840=) n.3774T>G n.3972T>G | |
2 | g.214990852A>G | CA431388117 | ABCA12 | c.3474T>C (p.Val1158=) c.2520T>C (p.Val840=) n.3774T>C n.3972T>C | |
2 | g.214990852A>T | CA431388118 | ABCA12 | c.3474T>A (p.Val1158=) c.2520T>A (p.Val840=) n.3774T>A n.3972T>A | |
2 | g.214990853A>C | CA350468911 | ABCA12 | c.3473T>G (p.Val1158Gly) c.2519T>G (p.Val840Gly) n.3773T>G n.3971T>G | |
2 | g.214990853A>G | CA350468912 | ABCA12 | c.3473T>C (p.Val1158Ala) c.2519T>C (p.Val840Ala) n.3773T>C n.3971T>C | |
2 | g.214990853A>T | CA350468910 | ABCA12 | c.3473T>A (p.Val1158Asp) c.2519T>A (p.Val840Asp) n.3773T>A n.3971T>A | |
2 | g.214990854C>A | CA350468916 | ABCA12 | c.3472G>T (p.Val1158Phe) c.2518G>T (p.Val840Phe) n.3772G>T n.3970G>T | |
2 | g.214990854C>G | CA350468917 | ABCA12 | c.3472G>C (p.Val1158Leu) c.2518G>C (p.Val840Leu) n.3772G>C n.3970G>C | |
2 | g.214990854C>T | CA350468919 | ABCA12 | c.3472G>A (p.Val1158Ile) c.2518G>A (p.Val840Ile) n.3772G>A n.3970G>A | |
2 | g.214990855C>A | CA431388120 | ABCA12 | c.3471G>T (p.Ser1157=) c.2517G>T (p.Ser839=) n.3771G>T n.3969G>T | |
2 | g.214990855C= | CA1327165379 | ABCA12 | c.3471G= (p.Ser1157=) c.2517G= (p.Ser839=) n.3771G= n.3969G= | |
2 | g.214990855C>G | CA431388121 | ABCA12 | c.3471G>C (p.Ser1157=) c.2517G>C (p.Ser839=) n.3771G>C n.3969G>C | |
2 | g.214990855C>T | CA2091727 | ABCA12 | c.3471G>A (p.Ser1157=) c.2517G>A (p.Ser839=) n.3771G>A n.3969G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990856G>A | CA2091728 | ABCA12 | c.3470C>T (p.Ser1157Leu) c.2516C>T (p.Ser839Leu) n.3770C>T n.3968C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990856G>C | CA350468922 | ABCA12 | c.3470C>G (p.Ser1157Trp) c.2516C>G (p.Ser839Trp) n.3770C>G n.3968C>G | |
2 | g.214990856G= | CA1327165380 | ABCA12 | c.3470C= (p.Ser1157=) c.2516C= (p.Ser839=) n.3770C= n.3968C= | |
2 | g.214990856G>T | CA350468924 | ABCA12 | c.3470C>A (p.Ser1157Ter) c.2516C>A (p.Ser839Ter) n.3770C>A n.3968C>A | |
2 | g.214990857A>C | CA350468927 | ABCA12 | c.3469T>G (p.Ser1157Ala) c.2515T>G (p.Ser839Ala) n.3769T>G n.3967T>G | |
2 | g.214990857A>G | CA350468929 | ABCA12 | c.3469T>C (p.Ser1157Pro) c.2515T>C (p.Ser839Pro) n.3769T>C n.3967T>C | |
2 | g.214990857A>T | CA350468931 | ABCA12 | c.3469T>A (p.Ser1157Thr) c.2515T>A (p.Ser839Thr) n.3769T>A n.3967T>A | |
2 | g.214990858G>A | CA431388123 | ABCA12 | c.3468C>T (p.Phe1156=) c.2514C>T (p.Phe838=) n.3768C>T n.3966C>T | |
2 | g.214990858G>C | CA350468933 | ABCA12 | c.3468C>G (p.Phe1156Leu) c.2514C>G (p.Phe838Leu) n.3768C>G n.3966C>G | |
2 | g.214990858G>T | CA350468935 | ABCA12 | c.3468C>A (p.Phe1156Leu) c.2514C>A (p.Phe838Leu) n.3768C>A n.3966C>A | |
2 | g.214990859A>C | CA350468941 | ABCA12 | c.3467T>G (p.Phe1156Cys) c.2513T>G (p.Phe838Cys) n.3767T>G n.3965T>G | gnomAD v4 |
2 | g.214990859A>G | CA350468937 | ABCA12 | c.3467T>C (p.Phe1156Ser) c.2513T>C (p.Phe838Ser) n.3767T>C n.3965T>C | |
2 | g.214990859A>T | CA350468939 | ABCA12 | c.3467T>A (p.Phe1156Tyr) c.2513T>A (p.Phe838Tyr) n.3767T>A n.3965T>A | |
2 | g.214990860A= | CA1327165381 | ABCA12 | c.3466T= (p.Phe1156=) c.2512T= (p.Phe838=) n.3766T= n.3964T= | |
2 | g.214990860A>C | CA350468943 | ABCA12 | c.3466T>G (p.Phe1156Val) c.2512T>G (p.Phe838Val) n.3766T>G n.3964T>G | COSMIC |
2 | g.214990860A>G | CA2091729 | ABCA12 | c.3466T>C (p.Phe1156Leu) c.2512T>C (p.Phe838Leu) n.3766T>C n.3964T>C | dbSNP ExAC |
2 | g.214990860A>T | CA350468945 | ABCA12 | c.3466T>A (p.Phe1156Ile) c.2512T>A (p.Phe838Ile) n.3766T>A n.3964T>A | |
2 | g.214990861G>A | CA431388127 | ABCA12 | c.3465C>T (p.Ser1155=) c.2511C>T (p.Ser837=) n.3765C>T n.3963C>T | |
2 | g.214990861G>C | CA350468947 | ABCA12 | c.3465C>G (p.Ser1155Arg) c.2511C>G (p.Ser837Arg) n.3765C>G n.3963C>G | |
2 | g.214990861G>T | CA350468948 | ABCA12 | c.3465C>A (p.Ser1155Arg) c.2511C>A (p.Ser837Arg) n.3765C>A n.3963C>A | |
2 | g.214990862C>A | CA350468950 | ABCA12 | c.3464G>T (p.Ser1155Ile) c.2510G>T (p.Ser837Ile) n.3764G>T n.3962G>T | |
2 | g.214990862C= | CA1327165382 | ABCA12 | c.3464G= (p.Ser1155=) c.2510G= (p.Ser837=) n.3764G= n.3962G= | |
2 | g.214990862C>G | CA350468953 | ABCA12 | c.3464G>C (p.Ser1155Thr) c.2510G>C (p.Ser837Thr) n.3764G>C n.3962G>C | |
2 | g.214990862C>T | CA350468956 | ABCA12 | c.3464G>A (p.Ser1155Asn) c.2510G>A (p.Ser837Asn) n.3764G>A n.3962G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990863T>A | CA350468969 | ABCA12 | c.3463A>T (p.Ser1155Cys) c.2509A>T (p.Ser837Cys) n.3763A>T n.3961A>T | |
2 | g.214990863T>C | CA350468971 | ABCA12 | c.3463A>G (p.Ser1155Gly) c.2509A>G (p.Ser837Gly) n.3763A>G n.3961A>G | |
2 | g.214990863T>G | CA350468974 | ABCA12 | c.3463A>C (p.Ser1155Arg) c.2509A>C (p.Ser837Arg) n.3763A>C n.3961A>C | |
2 | g.214990864G>A | CA431388133 | ABCA12 | c.3462C>T (p.Tyr1154=) c.2508C>T (p.Tyr836=) n.3762C>T n.3960C>T | gnomAD v4 |
2 | g.214990864G>C | CA350468982 | ABCA12 | c.3462C>G (p.Tyr1154Ter) c.2508C>G (p.Tyr836Ter) n.3762C>G n.3960C>G | |
2 | g.214990864G>T | CA350468980 | ABCA12 | c.3462C>A (p.Tyr1154Ter) c.2508C>A (p.Tyr836Ter) n.3762C>A n.3960C>A | |
2 | g.214990865T>A | CA350468986 | ABCA12 | c.3461A>T (p.Tyr1154Phe) c.2507A>T (p.Tyr836Phe) n.3761A>T n.3959A>T | |
2 | g.214990865T>C | CA350468989 | ABCA12 | c.3461A>G (p.Tyr1154Cys) c.2507A>G (p.Tyr836Cys) n.3761A>G n.3959A>G | |
2 | g.214990865T>G | CA350468992 | ABCA12 | c.3461A>C (p.Tyr1154Ser) c.2507A>C (p.Tyr836Ser) n.3761A>C n.3959A>C | |
2 | g.214990866A>C | CA350468995 | ABCA12 | c.3460T>G (p.Tyr1154Asp) c.2506T>G (p.Tyr836Asp) n.3760T>G n.3958T>G | |
2 | g.214990866A>G | CA350468997 | ABCA12 | c.3460T>C (p.Tyr1154His) c.2506T>C (p.Tyr836His) n.3760T>C n.3958T>C | |
2 | g.214990866A>T | CA350469000 | ABCA12 | c.3460T>A (p.Tyr1154Asn) c.2506T>A (p.Tyr836Asn) n.3760T>A n.3958T>A | |
2 | g.214990867G>A | CA431388135 | ABCA12 | c.3459C>T (p.Asp1153=) c.2505C>T (p.Asp835=) n.3759C>T n.3957C>T | |
2 | g.214990867G>C | CA350469006 | ABCA12 | c.3459C>G (p.Asp1153Glu) c.2505C>G (p.Asp835Glu) n.3759C>G n.3957C>G | |
2 | g.214990867G>T | CA350469003 | ABCA12 | c.3459C>A (p.Asp1153Glu) c.2505C>A (p.Asp835Glu) n.3759C>A n.3957C>A | |
2 | g.214990868T>A | CA350469010 | ABCA12 | c.3458A>T (p.Asp1153Val) c.2504A>T (p.Asp835Val) n.3758A>T n.3956A>T | |
2 | g.214990868T>C | CA350469012 | ABCA12 | c.3458A>G (p.Asp1153Gly) c.2504A>G (p.Asp835Gly) n.3758A>G n.3956A>G | |
2 | g.214990868T>G | CA350469016 | ABCA12 | c.3458A>C (p.Asp1153Ala) c.2504A>C (p.Asp835Ala) n.3758A>C n.3956A>C | |
2 | g.214990869C>A | CA350469020 | ABCA12 | c.3457G>T (p.Asp1153Tyr) c.2503G>T (p.Asp835Tyr) n.3757G>T n.3955G>T | |
2 | g.214990869C>G | CA350469022 | ABCA12 | c.3457G>C (p.Asp1153His) c.2503G>C (p.Asp835His) n.3757G>C n.3955G>C | |
2 | g.214990869C>T | CA350469027 | ABCA12 | c.3457G>A (p.Asp1153Asn) c.2503G>A (p.Asp835Asn) n.3757G>A n.3955G>A | |
2 | g.214990870C>A | CA431388140 | ABCA12 | c.3456G>T (p.Ser1152=) c.2502G>T (p.Ser834=) n.3756G>T n.3954G>T | |
2 | g.214990870C= | CA1327165383 | ABCA12 | c.3456G= (p.Ser1152=) c.2502G= (p.Ser834=) n.3756G= n.3954G= | |
2 | g.214990870C>G | CA431388142 | ABCA12 | c.3456G>C (p.Ser1152=) c.2502G>C (p.Ser834=) n.3756G>C n.3954G>C | |
2 | g.214990870C>T | CA431388141 | ABCA12 | c.3456G>A (p.Ser1152=) c.2502G>A (p.Ser834=) n.3756G>A n.3954G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214990871G>A | CA2091730 | ABCA12 | c.3455C>T (p.Ser1152Leu) c.2501C>T (p.Ser834Leu) n.3755C>T n.3953C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.214990871G>C | CA350469032 | ABCA12 | c.3455C>G (p.Ser1152Trp) c.2501C>G (p.Ser834Trp) n.3755C>G n.3953C>G | |
2 | g.214990871G= | CA1327165384 | ABCA12 | c.3455C= (p.Ser1152=) c.2501C= (p.Ser834=) n.3755C= n.3953C= | |
2 | g.214990871G>T | CA350469035 | ABCA12 | c.3455C>A (p.Ser1152Ter) c.2501C>A (p.Ser834Ter) n.3755C>A n.3953C>A | |
2 | g.214990872A>C | CA350469042 | ABCA12 | c.3454T>G (p.Ser1152Ala) c.2500T>G (p.Ser834Ala) n.3754T>G n.3952T>G | |
2 | g.214990872A>G | CA350469044 | ABCA12 | c.3454T>C (p.Ser1152Pro) c.2500T>C (p.Ser834Pro) n.3754T>C n.3952T>C | |
2 | g.214990872A>T | CA350469048 | ABCA12 | c.3454T>A (p.Ser1152Thr) c.2500T>A (p.Ser834Thr) n.3754T>A n.3952T>A | |
2 | g.214990873A>C | CA350469053 | ABCA12 | c.3453T>G (p.Phe1151Leu) c.2499T>G (p.Phe833Leu) n.3753T>G n.3951T>G | |
2 | g.214990873A>G | CA431388147 | ABCA12 | c.3453T>C (p.Phe1151=) c.2499T>C (p.Phe833=) n.3753T>C n.3951T>C | |
2 | g.214990873A>T | CA350469056 | ABCA12 | c.3453T>A (p.Phe1151Leu) c.2499T>A (p.Phe833Leu) n.3753T>A n.3951T>A | |
2 | g.214990874A= | CA1327165385 | ABCA12 | c.3452T= (p.Phe1151=) c.2498T= (p.Phe833=) n.3752T= n.3950T= | |
2 | g.214990874A>C | CA350469060 | ABCA12 | c.3452T>G (p.Phe1151Cys) c.2498T>G (p.Phe833Cys) n.3752T>G n.3950T>G | dbSNP |
2 | g.214990874A>G | CA350469063 | ABCA12 | c.3452T>C (p.Phe1151Ser) c.2498T>C (p.Phe833Ser) n.3752T>C n.3950T>C | |
2 | g.214990874A>T | CA2091731 | ABCA12 | c.3452T>A (p.Phe1151Tyr) c.2498T>A (p.Phe833Tyr) n.3752T>A n.3950T>A | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.214990875A>C | CA350469071 | ABCA12 | c.3451T>G (p.Phe1151Val) c.2497T>G (p.Phe833Val) n.3751T>G n.3949T>G | |
2 | g.214990875A>G | CA350469074 | ABCA12 | c.3451T>C (p.Phe1151Leu) c.2497T>C (p.Phe833Leu) n.3751T>C n.3949T>C | |
2 | g.214990875A>T | CA350469078 | ABCA12 | c.3451T>A (p.Phe1151Ile) c.2497T>A (p.Phe833Ile) n.3751T>A n.3949T>A | |
2 | g.214990876A>C | CA350469082 | ABCA12 | c.3450T>G (p.Tyr1150Ter) c.2496T>G (p.Tyr832Ter) n.3750T>G n.3948T>G | gnomAD v4 COSMIC COSMIC |
2 | g.214990876A>G | CA431388149 | ABCA12 | c.3450T>C (p.Tyr1150=) c.2496T>C (p.Tyr832=) n.3750T>C n.3948T>C | ClinVar gnomAD v4 |
2 | g.214990876A>T | CA350469084 | ABCA12 | c.3450T>A (p.Tyr1150Ter) c.2496T>A (p.Tyr832Ter) n.3750T>A n.3948T>A | |
2 | g.214990877T>A | CA350469087 | ABCA12 | c.3449A>T (p.Tyr1150Phe) c.2495A>T (p.Tyr832Phe) n.3749A>T n.3947A>T | |
2 | g.214990877T>C | CA2091732 | ABCA12 | c.3449A>G (p.Tyr1150Cys) c.2495A>G (p.Tyr832Cys) n.3749A>G n.3947A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.214990877T>G | CA350469089 | ABCA12 | c.3449A>C (p.Tyr1150Ser) c.2495A>C (p.Tyr832Ser) n.3749A>C n.3947A>C | |
2 | g.214990877T= | CA1327165386 | ABCA12 | c.3449A= (p.Tyr1150=) c.2495A= (p.Tyr832=) n.3749A= n.3947A= | |
2 | g.214990878A>C | CA350469093 | ABCA12 | c.3448T>G (p.Tyr1150Asp) c.2494T>G (p.Tyr832Asp) n.3748T>G n.3946T>G | |
2 | g.214990878A>G | CA350469094 | ABCA12 | c.3448T>C (p.Tyr1150His) c.2494T>C (p.Tyr832His) n.3748T>C n.3946T>C | |
2 | g.214990878A>T | CA350469096 | ABCA12 | c.3448T>A (p.Tyr1150Asn) c.2494T>A (p.Tyr832Asn) n.3748T>A n.3946T>A | |
2 | g.214990879C>A | CA431388152 | ABCA12 | c.3447G>T (p.Leu1149=) c.2493G>T (p.Leu831=) n.3747G>T n.3945G>T | gnomAD v4 |
2 | g.214990879C= | CA1327165387 | ABCA12 | c.3447G= (p.Leu1149=) c.2493G= (p.Leu831=) n.3747G= n.3945G= | |
2 | g.214990879C>G | CA2091734 | ABCA12 | c.3447G>C (p.Leu1149=) c.2493G>C (p.Leu831=) n.3747G>C n.3945G>C | dbSNP ExAC gnomAD v3 gnomAD v4 |
2 | g.214990879C>T | CA2091733 | ABCA12 | c.3447G>A (p.Leu1149=) c.2493G>A (p.Leu831=) n.3747G>A n.3945G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990880A= | CA1327165388 | ABCA12 | c.3446T= (p.Leu1149=) c.2492T= (p.Leu831=) n.3746T= n.3944T= | |
2 | g.214990880A>C | CA350469101 | ABCA12 | c.3446T>G (p.Leu1149Arg) c.2492T>G (p.Leu831Arg) n.3746T>G n.3944T>G | |
2 | g.214990880A>G | CA350469103 | ABCA12 | c.3446T>C (p.Leu1149Pro) c.2492T>C (p.Leu831Pro) n.3746T>C n.3944T>C | ClinVar dbSNP |
2 | g.214990880A>T | CA350469105 | ABCA12 | c.3446T>A (p.Leu1149Gln) c.2492T>A (p.Leu831Gln) n.3746T>A n.3944T>A | |
2 | g.214990881G>A | CA431388153 | ABCA12 | c.3445C>T (p.Leu1149=) c.2491C>T (p.Leu831=) n.3745C>T n.3943C>T | |
2 | g.214990881G>C | CA350469107 | ABCA12 | c.3445C>G (p.Leu1149Val) c.2491C>G (p.Leu831Val) n.3745C>G n.3943C>G | |
2 | g.214990881G>T | CA350469109 | ABCA12 | c.3445C>A (p.Leu1149Met) c.2491C>A (p.Leu831Met) n.3745C>A n.3943C>A | |
2 | g.214990882G>A | CA431388155 | ABCA12 | c.3444C>T (p.Phe1148=) c.2490C>T (p.Phe830=) n.3744C>T n.3942C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990882G>C | CA350469110 | ABCA12 | c.3444C>G (p.Phe1148Leu) c.2490C>G (p.Phe830Leu) n.3744C>G n.3942C>G | |
2 | g.214990882G= | CA1327165389 | ABCA12 | c.3444C= (p.Phe1148=) c.2490C= (p.Phe830=) n.3744C= n.3942C= | |
2 | g.214990882G>T | CA350469111 | ABCA12 | c.3444C>A (p.Phe1148Leu) c.2490C>A (p.Phe830Leu) n.3744C>A n.3942C>A | |
2 | g.214990883A>C | CA350469117 | ABCA12 | c.3443T>G (p.Phe1148Cys) c.2489T>G (p.Phe830Cys) n.3743T>G n.3941T>G | |
2 | g.214990883A>G | CA350469113 | ABCA12 | c.3443T>C (p.Phe1148Ser) c.2489T>C (p.Phe830Ser) n.3743T>C n.3941T>C | |
2 | g.214990883A>T | CA350469116 | ABCA12 | c.3443T>A (p.Phe1148Tyr) c.2489T>A (p.Phe830Tyr) n.3743T>A n.3941T>A | |
2 | g.214990884A>C | CA350469120 | ABCA12 | c.3442T>G (p.Phe1148Val) c.2488T>G (p.Phe830Val) n.3742T>G n.3940T>G | |
2 | g.214990884A>G | CA350469122 | ABCA12 | c.3442T>C (p.Phe1148Leu) c.2488T>C (p.Phe830Leu) n.3742T>C n.3940T>C | |
2 | g.214990884A>T | CA350469124 | ABCA12 | c.3442T>A (p.Phe1148Ile) c.2488T>A (p.Phe830Ile) n.3742T>A n.3940T>A | |
2 | g.214990885del | CA2662978895 | ABCA12 | c.3441del (p.Leu1147PhefsTer15) c.2487del (p.Leu829PhefsTer15) n.3741del n.3939del | gnomAD v4 |
2 | g.214990885C>A | CA350469127 | ABCA12 | c.3441G>T (p.Leu1147Phe) c.2487G>T (p.Leu829Phe) n.3741G>T n.3939G>T | gnomAD v4 |
2 | g.214990885C= | CA1327165390 | ABCA12 | c.3441G= (p.Leu1147=) c.2487G= (p.Leu829=) n.3741G= n.3939G= | |
2 | g.214990885C>G | CA350469128 | ABCA12 | c.3441G>C (p.Leu1147Phe) c.2487G>C (p.Leu829Phe) n.3741G>C n.3939G>C | |
2 | g.214990885C>T | CA64827722 | ABCA12 | c.3441G>A (p.Leu1147=) c.2487G>A (p.Leu829=) n.3741G>A n.3939G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990885_214990886delinsCA | CA1327165391 | ABCA12 | c.3440_3441delinsTG (p.Leu1147=) c.2486_2487delinsTG (p.Leu829=) n.3740_3741delinsTG n.3938_3939delinsTG | |
2 | g.214990886A>C | CA350469132 | ABCA12 | c.3440T>G (p.Leu1147Trp) c.2486T>G (p.Leu829Trp) n.3740T>G n.3938T>G | |
2 | g.214990886A>G | CA350469135 | ABCA12 | c.3440T>C (p.Leu1147Ser) c.2486T>C (p.Leu829Ser) n.3740T>C n.3938T>C | |
2 | g.214990886A>T | CA350469137 | ABCA12 | c.3440T>A (p.Leu1147Ter) c.2486T>A (p.Leu829Ter) n.3740T>A n.3938T>A | |
2 | g.214990889del | CA539837472 | ABCA12 | c.3440del (p.Leu1147CysfsTer15) c.2486del (p.Leu829CysfsTer15) n.3740del n.3938del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990887A>C | CA350469140 | ABCA12 | c.3439T>G (p.Leu1147Val) c.2485T>G (p.Leu829Val) n.3739T>G n.3937T>G | |
2 | g.214990887A>G | CA431388162 | ABCA12 | c.3439T>C (p.Leu1147=) c.2485T>C (p.Leu829=) n.3739T>C n.3937T>C | |
2 | g.214990887A>T | CA350469141 | ABCA12 | c.3439T>A (p.Leu1147Met) c.2485T>A (p.Leu829Met) n.3739T>A n.3937T>A | |
2 | g.214990888A>C | CA350469142 | ABCA12 | c.3438T>G (p.Ile1146Met) c.2484T>G (p.Ile828Met) n.3738T>G n.3936T>G | |
2 | g.214990888A>G | CA431388166 | ABCA12 | c.3438T>C (p.Ile1146=) c.2484T>C (p.Ile828=) n.3738T>C n.3936T>C | |
2 | g.214990888A>T | CA431388168 | ABCA12 | c.3438T>A (p.Ile1146=) c.2484T>A (p.Ile828=) n.3738T>A n.3936T>A | |
2 | g.214990889A>C | CA350469147 | ABCA12 | c.3437T>G (p.Ile1146Ser) c.2483T>G (p.Ile828Ser) n.3737T>G n.3935T>G | |
2 | g.214990889A>G | CA350469148 | ABCA12 | c.3437T>C (p.Ile1146Thr) c.2483T>C (p.Ile828Thr) n.3737T>C n.3935T>C | |
2 | g.214990889A>T | CA350469145 | ABCA12 | c.3437T>A (p.Ile1146Asn) c.2483T>A (p.Ile828Asn) n.3737T>A n.3935T>A | |
2 | g.214990890T>A | CA350469151 | ABCA12 | c.3436A>T (p.Ile1146Phe) c.2482A>T (p.Ile828Phe) n.3736A>T n.3934A>T | |
2 | g.214990890T>C | CA350469149 | ABCA12 | c.3436A>G (p.Ile1146Val) c.2482A>G (p.Ile828Val) n.3736A>G n.3934A>G | |
2 | g.214990890T>G | CA350469153 | ABCA12 | c.3436A>C (p.Ile1146Leu) c.2482A>C (p.Ile828Leu) n.3736A>C n.3934A>C | |
2 | g.214990891G>A | CA431388173 | ABCA12 | c.3435C>T (p.Phe1145=) c.2481C>T (p.Phe827=) n.3735C>T n.3933C>T | |
2 | g.214990891G>C | CA350469156 | ABCA12 | c.3435C>G (p.Phe1145Leu) c.2481C>G (p.Phe827Leu) n.3735C>G n.3933C>G | |
2 | g.214990891G>T | CA350469158 | ABCA12 | c.3435C>A (p.Phe1145Leu) c.2481C>A (p.Phe827Leu) n.3735C>A n.3933C>A | gnomAD v4 |
2 | g.214990892A>C | CA350469160 | ABCA12 | c.3434T>G (p.Phe1145Cys) c.2480T>G (p.Phe827Cys) n.3734T>G n.3932T>G | |
2 | g.214990892A>G | CA350469162 | ABCA12 | c.3434T>C (p.Phe1145Ser) c.2480T>C (p.Phe827Ser) n.3734T>C n.3932T>C | |
2 | g.214990892A>T | CA350469164 | ABCA12 | c.3434T>A (p.Phe1145Tyr) c.2480T>A (p.Phe827Tyr) n.3734T>A n.3932T>A | |
2 | g.214990893A>C | CA350469167 | ABCA12 | c.3433T>G (p.Phe1145Val) c.2479T>G (p.Phe827Val) n.3733T>G n.3931T>G | |
2 | g.214990893A>G | CA350469169 | ABCA12 | c.3433T>C (p.Phe1145Leu) c.2479T>C (p.Phe827Leu) n.3733T>C n.3931T>C | |
2 | g.214990893A>T | CA350469170 | ABCA12 | c.3433T>A (p.Phe1145Ile) c.2479T>A (p.Phe827Ile) n.3733T>A n.3931T>A | |
2 | g.214990894C>A | CA431388176 | ABCA12 | c.3432G>T (p.Gly1144=) c.2478G>T (p.Gly826=) n.3732G>T n.3930G>T | |
2 | g.214990894C= | CA1327165392 | ABCA12 | c.3432G= (p.Gly1144=) c.2478G= (p.Gly826=) n.3732G= n.3930G= | |
2 | g.214990894C>G | CA2091735 | ABCA12 | c.3432G>C (p.Gly1144=) c.2478G>C (p.Gly826=) n.3732G>C n.3930G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990894C>T | CA431388175 | ABCA12 | c.3432G>A (p.Gly1144=) c.2478G>A (p.Gly826=) n.3732G>A n.3930G>A | |
2 | g.214990895C>A | CA350469175 | ABCA12 | c.3431G>T (p.Gly1144Val) c.2477G>T (p.Gly826Val) n.3731G>T n.3929G>T | gnomAD v4 |
2 | g.214990895C>G | CA350469176 | ABCA12 | c.3431G>C (p.Gly1144Ala) c.2477G>C (p.Gly826Ala) n.3731G>C n.3929G>C | gnomAD v4 |
2 | g.214990895C>T | CA350469178 | ABCA12 | c.3431G>A (p.Gly1144Glu) c.2477G>A (p.Gly826Glu) n.3731G>A n.3929G>A | |
2 | g.214990896C>A | CA350469185 | ABCA12 | c.3430G>T (p.Gly1144Trp) c.2476G>T (p.Gly826Trp) n.3730G>T n.3928G>T | |
2 | g.214990896C>G | CA350469180 | ABCA12 | c.3430G>C (p.Gly1144Arg) c.2476G>C (p.Gly826Arg) n.3730G>C n.3928G>C | |
2 | g.214990896C>T | CA350469183 | ABCA12 | c.3430G>A (p.Gly1144Arg) c.2476G>A (p.Gly826Arg) n.3730G>A n.3928G>A | COSMIC COSMIC |
2 | g.214990897A>C | CA350469187 | ABCA12 | c.3429T>G (p.Asn1143Lys) c.2475T>G (p.Asn825Lys) n.3729T>G n.3927T>G | |
2 | g.214990897A>G | CA431388178 | ABCA12 | c.3429T>C (p.Asn1143=) c.2475T>C (p.Asn825=) n.3729T>C n.3927T>C | |
2 | g.214990897A>T | CA350469189 | ABCA12 | c.3429T>A (p.Asn1143Lys) c.2475T>A (p.Asn825Lys) n.3729T>A n.3927T>A | COSMIC COSMIC |
2 | g.214990898T>A | CA350469192 | ABCA12 | c.3428A>T (p.Asn1143Ile) c.2474A>T (p.Asn825Ile) n.3728A>T n.3926A>T | gnomAD v4 |
2 | g.214990898T>C | CA350469194 | ABCA12 | c.3428A>G (p.Asn1143Ser) c.2474A>G (p.Asn825Ser) n.3728A>G n.3926A>G | gnomAD v4 |
2 | g.214990898T>G | CA350469196 | ABCA12 | c.3428A>C (p.Asn1143Thr) c.2474A>C (p.Asn825Thr) n.3728A>C n.3926A>C | |
2 | g.214990899T>A | CA350469199 | ABCA12 | c.3427A>T (p.Asn1143Tyr) c.2473A>T (p.Asn825Tyr) n.3727A>T n.3925A>T | |
2 | g.214990899T>C | CA350469201 | ABCA12 | c.3427A>G (p.Asn1143Asp) c.2473A>G (p.Asn825Asp) n.3727A>G n.3925A>G | |
2 | g.214990899T>G | CA350469203 | ABCA12 | c.3427A>C (p.Asn1143His) c.2473A>C (p.Asn825His) n.3727A>C n.3925A>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.214990899T= | CA1327165393 | ABCA12 | c.3427A= (p.Asn1143=) c.2473A= (p.Asn825=) n.3727A= n.3925A= | |
2 | g.214990900T>A | CA431388181 | ABCA12 | c.3426A>T (p.Thr1142=) c.2472A>T (p.Thr824=) n.3726A>T n.3924A>T | |
2 | g.214990900T>C | CA431388182 | ABCA12 | c.3426A>G (p.Thr1142=) c.2472A>G (p.Thr824=) n.3726A>G n.3924A>G | |
2 | g.214990900T>G | CA431388185 | ABCA12 | c.3426A>C (p.Thr1142=) c.2472A>C (p.Thr824=) n.3726A>C n.3924A>C | |
2 | g.214990901G>A | CA350469204 | ABCA12 | c.3425C>T (p.Thr1142Ile) c.2471C>T (p.Thr824Ile) n.3725C>T n.3923C>T | |
2 | g.214990901G>C | CA350469206 | ABCA12 | c.3425C>G (p.Thr1142Arg) c.2471C>G (p.Thr824Arg) n.3725C>G n.3923C>G | |
2 | g.214990901G= | CA1327165394 | ABCA12 | c.3425C= (p.Thr1142=) c.2471C= (p.Thr824=) n.3725C= n.3923C= | |
2 | g.214990901G>T | CA350469208 | ABCA12 | c.3425C>A (p.Thr1142Lys) c.2471C>A (p.Thr824Lys) n.3725C>A n.3923C>A | dbSNP gnomAD v4 |
2 | g.214990901_214990902delinsGT | CA1327165395 | ABCA12 | c.3424_3425delinsAC (p.Thr1142=) c.2470_2471delinsAC (p.Thr824=) n.3724_3725delinsAC n.3922_3923delinsAC | |
2 | g.214990902T>A | CA350469212 | ABCA12 | c.3424A>T (p.Thr1142Ser) c.2470A>T (p.Thr824Ser) n.3724A>T n.3922A>T | |
2 | g.214990902T>C | CA350469214 | ABCA12 | c.3424A>G (p.Thr1142Ala) c.2470A>G (p.Thr824Ala) n.3724A>G n.3922A>G | dbSNP gnomAD v4 |
2 | g.214990902T>G | CA350469211 | ABCA12 | c.3424A>C (p.Thr1142Pro) c.2470A>C (p.Thr824Pro) n.3724A>C n.3922A>C | |
2 | g.214990902T= | CA1327165397 | ABCA12 | c.3424A= (p.Thr1142=) c.2470A= (p.Thr824=) n.3724A= n.3922A= | |
2 | g.214990905del | CA1327165396 | ABCA12 | c.3424del (p.Thr1142GlnfsTer20) c.2470del (p.Thr824GlnfsTer20) n.3724del n.3922del | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990903T>A | CA350469217 | ABCA12 | c.3423A>T (p.Lys1141Asn) c.2469A>T (p.Lys823Asn) n.3723A>T n.3921A>T | |
2 | g.214990903T>C | CA431388194 | ABCA12 | c.3423A>G (p.Lys1141=) c.2469A>G (p.Lys823=) n.3723A>G n.3921A>G | |
2 | g.214990903T>G | CA350469218 | ABCA12 | c.3423A>C (p.Lys1141Asn) c.2469A>C (p.Lys823Asn) n.3723A>C n.3921A>C | |
2 | g.214990904T>A | CA350469221 | ABCA12 | c.3422A>T (p.Lys1141Ile) c.2468A>T (p.Lys823Ile) n.3722A>T n.3920A>T | |
2 | g.214990904T>C | CA350469223 | ABCA12 | c.3422A>G (p.Lys1141Arg) c.2468A>G (p.Lys823Arg) n.3722A>G n.3920A>G | |
2 | g.214990904T>G | CA350469225 | ABCA12 | c.3422A>C (p.Lys1141Thr) c.2468A>C (p.Lys823Thr) n.3722A>C n.3920A>C | |
2 | g.214990905T>A | CA350469230 | ABCA12 | c.3421A>T (p.Lys1141Ter) c.2467A>T (p.Lys823Ter) n.3721A>T n.3919A>T | |
2 | g.214990905T>C | CA350469229 | ABCA12 | c.3421A>G (p.Lys1141Glu) c.2467A>G (p.Lys823Glu) n.3721A>G n.3919A>G | |
2 | g.214990905T>G | CA350469228 | ABCA12 | c.3421A>C (p.Lys1141Gln) c.2467A>C (p.Lys823Gln) n.3721A>C n.3919A>C | |
2 | g.214990906A>C | CA431388197 | ABCA12 | c.3420T>G (p.Pro1140=) c.2466T>G (p.Pro822=) n.3720T>G n.3918T>G | |
2 | g.214990906A>G | CA431388198 | ABCA12 | c.3420T>C (p.Pro1140=) c.2466T>C (p.Pro822=) n.3720T>C n.3918T>C | |
2 | g.214990906A>T | CA431388200 | ABCA12 | c.3420T>A (p.Pro1140=) c.2466T>A (p.Pro822=) n.3720T>A n.3918T>A | |
2 | g.214990907G>A | CA350469233 | ABCA12 | c.3419C>T (p.Pro1140Leu) c.2465C>T (p.Pro822Leu) n.3719C>T n.3917C>T | |
2 | g.214990907G>C | CA350469234 | ABCA12 | c.3419C>G (p.Pro1140Arg) c.2465C>G (p.Pro822Arg) n.3719C>G n.3917C>G | |
2 | g.214990907G>T | CA350469236 | ABCA12 | c.3419C>A (p.Pro1140His) c.2465C>A (p.Pro822His) n.3719C>A n.3917C>A | |
2 | g.214990908G>A | CA350469238 | ABCA12 | c.3418C>T (p.Pro1140Ser) c.2464C>T (p.Pro822Ser) n.3718C>T n.3916C>T | COSMIC COSMIC |
2 | g.214990908G>C | CA350469242 | ABCA12 | c.3418C>G (p.Pro1140Ala) c.2464C>G (p.Pro822Ala) n.3718C>G n.3916C>G | |
2 | g.214990908G>T | CA350469244 | ABCA12 | c.3418C>A (p.Pro1140Thr) c.2464C>A (p.Pro822Thr) n.3718C>A n.3916C>A | |
2 | g.214990909A>C | CA431388202 | ABCA12 | c.3417T>G (p.Leu1139=) c.2463T>G (p.Leu821=) n.3717T>G n.3915T>G | |
2 | g.214990909A>G | CA431388203 | ABCA12 | c.3417T>C (p.Leu1139=) c.2463T>C (p.Leu821=) n.3717T>C n.3915T>C | |
2 | g.214990909A>T | CA431388204 | ABCA12 | c.3417T>A (p.Leu1139=) c.2463T>A (p.Leu821=) n.3717T>A n.3915T>A | |
2 | g.214990910A>C | CA350469247 | ABCA12 | c.3416T>G (p.Leu1139Arg) c.2462T>G (p.Leu821Arg) n.3716T>G n.3914T>G | |
2 | g.214990910A>G | CA350469251 | ABCA12 | c.3416T>C (p.Leu1139Pro) c.2462T>C (p.Leu821Pro) n.3716T>C n.3914T>C | ClinVar dbSNP gnomAD v4 |
2 | g.214990910A>T | CA350469249 | ABCA12 | c.3416T>A (p.Leu1139His) c.2462T>A (p.Leu821His) n.3716T>A n.3914T>A | |
2 | g.214990911G>A | CA350469252 | ABCA12 | c.3415C>T (p.Leu1139Phe) c.2461C>T (p.Leu821Phe) n.3715C>T n.3913C>T | |
2 | g.214990911G>C | CA350469254 | ABCA12 | c.3415C>G (p.Leu1139Val) c.2461C>G (p.Leu821Val) n.3715C>G n.3913C>G | |
2 | g.214990911G>T | CA350469256 | ABCA12 | c.3415C>A (p.Leu1139Ile) c.2461C>A (p.Leu821Ile) n.3715C>A n.3913C>A | |
2 | g.214990912A>C | CA350469259 | ABCA12 | c.3414T>G (p.Ile1138Met) c.2460T>G (p.Ile820Met) n.3714T>G n.3912T>G | |
2 | g.214990912A>G | CA431388209 | ABCA12 | c.3414T>C (p.Ile1138=) c.2460T>C (p.Ile820=) n.3714T>C n.3912T>C | |
2 | g.214990912A>T | CA431388210 | ABCA12 | c.3414T>A (p.Ile1138=) c.2460T>A (p.Ile820=) n.3714T>A n.3912T>A | |
2 | g.214990913A>C | CA350469261 | ABCA12 | c.3413T>G (p.Ile1138Ser) c.2459T>G (p.Ile820Ser) n.3713T>G n.3911T>G | |
2 | g.214990913A>G | CA350469263 | ABCA12 | c.3413T>C (p.Ile1138Thr) c.2459T>C (p.Ile820Thr) n.3713T>C n.3911T>C | |
2 | g.214990913A>T | CA350469265 | ABCA12 | c.3413T>A (p.Ile1138Asn) c.2459T>A (p.Ile820Asn) n.3713T>A n.3911T>A | |
2 | g.214990914T>A | CA350469268 | ABCA12 | c.3412A>T (p.Ile1138Phe) c.2458A>T (p.Ile820Phe) n.3712A>T n.3910A>T | |
2 | g.214990914T>C | CA2091736 | ABCA12 | c.3412A>G (p.Ile1138Val) c.2458A>G (p.Ile820Val) n.3712A>G n.3910A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.214990914T>G | CA350469271 | ABCA12 | c.3412A>C (p.Ile1138Leu) c.2458A>C (p.Ile820Leu) n.3712A>C n.3910A>C | |
2 | g.214990914T= | CA1327165398 | ABCA12 | c.3412A= (p.Ile1138=) c.2458A= (p.Ile820=) n.3712A= n.3910A= | |
2 | g.214990914_214990915insCTGTCTCTT | CA2754209703 | ABCA12 | c.3412_3413insAGAGACAGA (p.Asn1137_Ile1138insLysArgGln) c.2458_2459insAGAGACAGA (p.Asn819_Ile820insLysArgGln) n.3712_3713insAGAGACAGA n.3910_3911insAGAGACAGA | |
2 | g.214990915A>C | CA350469273 | ABCA12 | c.3411T>G (p.Asn1137Lys) c.2457T>G (p.Asn819Lys) n.3711T>G n.3909T>G | |
2 | g.214990915A>G | CA431388214 | ABCA12 | c.3411T>C (p.Asn1137=) c.2457T>C (p.Asn819=) n.3711T>C n.3909T>C | gnomAD v4 |
2 | g.214990915A>T | CA350469275 | ABCA12 | c.3411T>A (p.Asn1137Lys) c.2457T>A (p.Asn819Lys) n.3711T>A n.3909T>A | |
2 | g.214990916T>A | CA350469282 | ABCA12 | c.3410A>T (p.Asn1137Ile) c.2456A>T (p.Asn819Ile) n.3710A>T n.3908A>T | |
2 | g.214990916T>C | CA350469280 | ABCA12 | c.3410A>G (p.Asn1137Ser) c.2456A>G (p.Asn819Ser) n.3710A>G n.3908A>G | |
2 | g.214990916T>G | CA350469278 | ABCA12 | c.3410A>C (p.Asn1137Thr) c.2456A>C (p.Asn819Thr) n.3710A>C n.3908A>C | |
2 | g.214990916_214990917insACACA | CA2754209704 | ABCA12 | c.3409_3410insTGTGT (p.Asn1137MetfsTer27) c.2455_2456insTGTGT (p.Asn819MetfsTer27) n.3709_3710insTGTGT n.3907_3908insTGTGT | |
2 | g.214990917T>A | CA350469285 | ABCA12 | c.3409A>T (p.Asn1137Tyr) c.2455A>T (p.Asn819Tyr) n.3709A>T n.3907A>T | |
2 | g.214990917T>C | CA350469289 | ABCA12 | c.3409A>G (p.Asn1137Asp) c.2455A>G (p.Asn819Asp) n.3709A>G n.3907A>G | |
2 | g.214990917T>G | CA350469287 | ABCA12 | c.3409A>C (p.Asn1137His) c.2455A>C (p.Asn819His) n.3709A>C n.3907A>C | |
2 | g.214990917_214990918insCTC | CA2754209705 | ABCA12 | c.3408_3409insGAG (p.Gly1136_Asn1137insGlu) c.2454_2455insGAG (p.Gly818_Asn819insGlu) n.3708_3709insGAG n.3906_3907insGAG | |
2 | g.214990918G>A | CA431388222 | ABCA12 | c.3408C>T (p.Gly1136=) c.2454C>T (p.Gly818=) n.3708C>T n.3906C>T | COSMIC COSMIC |
2 | g.214990918G>C | CA431388221 | ABCA12 | c.3408C>G (p.Gly1136=) c.2454C>G (p.Gly818=) n.3708C>G n.3906C>G | |
2 | g.214990918G>T | CA431388220 | ABCA12 | c.3408C>A (p.Gly1136=) c.2454C>A (p.Gly818=) n.3708C>A n.3906C>A | |
2 | g.214990919C>A | CA350469292 | ABCA12 | c.3407G>T (p.Gly1136Val) c.2453G>T (p.Gly818Val) n.3707G>T n.3905G>T | |
2 | g.214990919C>G | CA350469294 | ABCA12 | c.3407G>C (p.Gly1136Ala) c.2453G>C (p.Gly818Ala) n.3707G>C n.3905G>C | |
2 | g.214990919C>T | CA350469296 | ABCA12 | c.3407G>A (p.Gly1136Asp) c.2453G>A (p.Gly818Asp) n.3707G>A n.3905G>A | |
2 | g.214990920C>A | CA350469299 | ABCA12 | c.3406G>T (p.Gly1136Cys) c.2452G>T (p.Gly818Cys) n.3706G>T n.3904G>T | |
2 | g.214990920C>G | CA350469302 | ABCA12 | c.3406G>C (p.Gly1136Arg) c.2452G>C (p.Gly818Arg) n.3706G>C n.3904G>C | |
2 | g.214990920C>T | CA350469304 | ABCA12 | c.3406G>A (p.Gly1136Ser) c.2452G>A (p.Gly818Ser) n.3706G>A n.3904G>A | |
2 | g.214990921A>C | CA350469306 | ABCA12 | c.3405T>G (p.Phe1135Leu) c.2451T>G (p.Phe817Leu) n.3705T>G n.3903T>G | |
2 | g.214990921A>G | CA431388229 | ABCA12 | c.3405T>C (p.Phe1135=) c.2451T>C (p.Phe817=) n.3705T>C n.3903T>C | |
2 | g.214990921A>T | CA350469309 | ABCA12 | c.3405T>A (p.Phe1135Leu) c.2451T>A (p.Phe817Leu) n.3705T>A n.3903T>A | |
2 | g.214990922A>C | CA350469312 | ABCA12 | c.3404T>G (p.Phe1135Cys) c.2450T>G (p.Phe817Cys) n.3704T>G n.3902T>G | |
2 | g.214990922A>G | CA350469314 | ABCA12 | c.3404T>C (p.Phe1135Ser) c.2450T>C (p.Phe817Ser) n.3704T>C n.3902T>C | |
2 | g.214990922A>T | CA350469316 | ABCA12 | c.3404T>A (p.Phe1135Tyr) c.2450T>A (p.Phe817Tyr) n.3704T>A n.3902T>A | |
2 | g.214990923A>C | CA350469323 | ABCA12 | c.3403T>G (p.Phe1135Val) c.2449T>G (p.Phe817Val) n.3703T>G n.3901T>G | |
2 | g.214990923A>G | CA350469319 | ABCA12 | c.3403T>C (p.Phe1135Leu) c.2449T>C (p.Phe817Leu) n.3703T>C n.3901T>C | |
2 | g.214990923A>T | CA350469321 | ABCA12 | c.3403T>A (p.Phe1135Ile) c.2449T>A (p.Phe817Ile) n.3703T>A n.3901T>A | |
2 | g.214990924C>A | CA350469326 | ABCA12 | c.3402G>T (p.Lys1134Asn) c.2448G>T (p.Lys816Asn) n.3702G>T n.3900G>T | |
2 | g.214990924C= | CA1327165399 | ABCA12 | c.3402G= (p.Lys1134=) c.2448G= (p.Lys816=) n.3702G= n.3900G= | |
2 | g.214990924C>G | CA350469328 | ABCA12 | c.3402G>C (p.Lys1134Asn) c.2448G>C (p.Lys816Asn) n.3702G>C n.3900G>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.214990924C>T | CA431388241 | ABCA12 | c.3402G>A (p.Lys1134=) c.2448G>A (p.Lys816=) n.3702G>A n.3900G>A |