Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011561T>A | CA350483653 | ABCA12 | c.2210A>T (p.Glu737Val) c.1256A>T (p.Glu419Val) n.2454A>T n.2652A>T | |
2 | g.215011561T>C | CA350483651 | ABCA12 | c.2210A>G (p.Glu737Gly) c.1256A>G (p.Glu419Gly) n.2454A>G n.2652A>G | |
2 | g.215011561T>G | CA350483652 | ABCA12 | c.2210A>C (p.Glu737Ala) c.1256A>C (p.Glu419Ala) n.2454A>C n.2652A>C | |
2 | g.215011561_215011562delinsTC | CA1327174141 | ABCA12 | c.2209_2210delinsGA (p.Glu737=) c.1255_1256delinsGA (p.Glu419=) n.2453_2454delinsGA n.2651_2652delinsGA | |
2 | g.215011562del | CA1327174142 | ABCA12 | c.2209del (p.Glu737AsnfsTer3) c.1255del (p.Glu419AsnfsTer3) n.2453del n.2651del | dbSNP |
2 | g.215011562C>A | CA350483654 | ABCA12 | c.2209G>T (p.Glu737Ter) c.1255G>T (p.Glu419Ter) n.2453G>T n.2651G>T | |
2 | g.215011562C= | CA1327174143 | ABCA12 | c.2209G= (p.Glu737=) c.1255G= (p.Glu419=) n.2453G= n.2651G= | |
2 | g.215011562C>G | CA350483655 | ABCA12 | c.2209G>C (p.Glu737Gln) c.1255G>C (p.Glu419Gln) n.2453G>C n.2651G>C | |
2 | g.215011562C>T | CA2092009 | ABCA12 | c.2209G>A (p.Glu737Lys) c.1255G>A (p.Glu419Lys) n.2453G>A n.2651G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011563A>C | CA431151483 | ABCA12 | c.2208T>G (p.Thr736=) c.1254T>G (p.Thr418=) n.2452T>G n.2650T>G | |
2 | g.215011563A>G | CA431151484 | ABCA12 | c.2208T>C (p.Thr736=) c.1254T>C (p.Thr418=) n.2452T>C n.2650T>C | |
2 | g.215011563A>T | CA431151485 | ABCA12 | c.2208T>A (p.Thr736=) c.1254T>A (p.Thr418=) n.2452T>A n.2650T>A | |
2 | g.215011564G>A | CA350483656 | ABCA12 | c.2207C>T (p.Thr736Ile) c.1253C>T (p.Thr418Ile) n.2451C>T n.2649C>T | |
2 | g.215011564G>C | CA350483657 | ABCA12 | c.2207C>G (p.Thr736Ser) c.1253C>G (p.Thr418Ser) n.2451C>G n.2649C>G | |
2 | g.215011564G>T | CA350483658 | ABCA12 | c.2207C>A (p.Thr736Asn) c.1253C>A (p.Thr418Asn) n.2451C>A n.2649C>A | |
2 | g.215011565T>A | CA350483659 | ABCA12 | c.2206A>T (p.Thr736Ser) c.1252A>T (p.Thr418Ser) n.2450A>T n.2648A>T | |
2 | g.215011565T>C | CA350483660 | ABCA12 | c.2206A>G (p.Thr736Ala) c.1252A>G (p.Thr418Ala) n.2450A>G n.2648A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011565T>G | CA350483661 | ABCA12 | c.2206A>C (p.Thr736Pro) c.1252A>C (p.Thr418Pro) n.2450A>C n.2648A>C | |
2 | g.215011565T= | CA1327174144 | ABCA12 | c.2206A= (p.Thr736=) c.1252A= (p.Thr418=) n.2450A= n.2648A= | |
2 | g.215011566G>A | CA431151488 | ABCA12 | c.2205C>T (p.Thr735=) c.1251C>T (p.Thr417=) n.2449C>T n.2647C>T | |
2 | g.215011566G>C | CA431151486 | ABCA12 | c.2205C>G (p.Thr735=) c.1251C>G (p.Thr417=) n.2449C>G n.2647C>G | |
2 | g.215011566G>T | CA431151487 | ABCA12 | c.2205C>A (p.Thr735=) c.1251C>A (p.Thr417=) n.2449C>A n.2647C>A | |
2 | g.215011567G>A | CA350483662 | ABCA12 | c.2204C>T (p.Thr735Ile) c.1250C>T (p.Thr417Ile) n.2448C>T n.2646C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011567G>C | CA2092010 | ABCA12 | c.2204C>G (p.Thr735Ser) c.1250C>G (p.Thr417Ser) n.2448C>G n.2646C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011567G= | CA1327174145 | ABCA12 | c.2204C= (p.Thr735=) c.1250C= (p.Thr417=) n.2448C= n.2646C= | |
2 | g.215011567G>T | CA350483663 | ABCA12 | c.2204C>A (p.Thr735Asn) c.1250C>A (p.Thr417Asn) n.2448C>A n.2646C>A | |
2 | g.215011568T>A | CA350483664 | ABCA12 | c.2203A>T (p.Thr735Ser) c.1249A>T (p.Thr417Ser) n.2447A>T n.2645A>T | |
2 | g.215011568T>C | CA350483666 | ABCA12 | c.2203A>G (p.Thr735Ala) c.1249A>G (p.Thr417Ala) n.2447A>G n.2645A>G | |
2 | g.215011568T>G | CA350483665 | ABCA12 | c.2203A>C (p.Thr735Pro) c.1249A>C (p.Thr417Pro) n.2447A>C n.2645A>C | |
2 | g.215011569A>C | CA350483667 | ABCA12 | c.2202T>G (p.Ile734Met) c.1248T>G (p.Ile416Met) n.2446T>G n.2644T>G | |
2 | g.215011569A>G | CA431151489 | ABCA12 | c.2202T>C (p.Ile734=) c.1248T>C (p.Ile416=) n.2446T>C n.2644T>C | |
2 | g.215011569A>T | CA431151490 | ABCA12 | c.2202T>A (p.Ile734=) c.1248T>A (p.Ile416=) n.2446T>A n.2644T>A | |
2 | g.215011570A>C | CA350483668 | ABCA12 | c.2201T>G (p.Ile734Ser) c.1247T>G (p.Ile416Ser) n.2445T>G n.2643T>G | COSMIC |
2 | g.215011570A>G | CA350483669 | ABCA12 | c.2201T>C (p.Ile734Thr) c.1247T>C (p.Ile416Thr) n.2445T>C n.2643T>C | |
2 | g.215011570A>T | CA350483670 | ABCA12 | c.2201T>A (p.Ile734Asn) c.1247T>A (p.Ile416Asn) n.2445T>A n.2643T>A | |
2 | g.215011571T>A | CA350483671 | ABCA12 | c.2200A>T (p.Ile734Phe) c.1246A>T (p.Ile416Phe) n.2444A>T n.2642A>T | |
2 | g.215011571T>C | CA350483672 | ABCA12 | c.2200A>G (p.Ile734Val) c.1246A>G (p.Ile416Val) n.2444A>G n.2642A>G | |
2 | g.215011571T>G | CA2092011 | ABCA12 | c.2200A>C (p.Ile734Leu) c.1246A>C (p.Ile416Leu) n.2444A>C n.2642A>C | dbSNP ExAC gnomAD v2 |
2 | g.215011571T= | CA1327174146 | ABCA12 | c.2200A= (p.Ile734=) c.1246A= (p.Ile416=) n.2444A= n.2642A= | |
2 | g.215011572T>A | CA431151491 | ABCA12 | c.2199A>T (p.Gly733=) c.1245A>T (p.Gly415=) n.2443A>T n.2641A>T | gnomAD v4 |
2 | g.215011572T>C | CA431151492 | ABCA12 | c.2199A>G (p.Gly733=) c.1245A>G (p.Gly415=) n.2443A>G n.2641A>G | gnomAD v4 |
2 | g.215011572T>G | CA431151493 | ABCA12 | c.2199A>C (p.Gly733=) c.1245A>C (p.Gly415=) n.2443A>C n.2641A>C | |
2 | g.215011573C>A | CA350483673 | ABCA12 | c.2198G>T (p.Gly733Val) c.1244G>T (p.Gly415Val) n.2442G>T n.2640G>T | |
2 | g.215011573C>G | CA350483674 | ABCA12 | c.2198G>C (p.Gly733Ala) c.1244G>C (p.Gly415Ala) n.2442G>C n.2640G>C | |
2 | g.215011573C>T | CA350483675 | ABCA12 | c.2198G>A (p.Gly733Glu) c.1244G>A (p.Gly415Glu) n.2442G>A n.2640G>A | COSMIC COSMIC |
2 | g.215011574C>A | CA350483676 | ABCA12 | c.2197G>T (p.Gly733Ter) c.1243G>T (p.Gly415Ter) n.2441G>T n.2639G>T | |
2 | g.215011574C>G | CA350483677 | ABCA12 | c.2197G>C (p.Gly733Arg) c.1243G>C (p.Gly415Arg) n.2441G>C n.2639G>C | |
2 | g.215011574C>T | CA350483678 | ABCA12 | c.2197G>A (p.Gly733Arg) c.1243G>A (p.Gly415Arg) n.2441G>A n.2639G>A | gnomAD v4 |
2 | g.215011575T>A | CA350483679 | ABCA12 | c.2196A>T (p.Gln732His) c.1242A>T (p.Gln414His) n.2440A>T n.2638A>T | COSMIC COSMIC |
2 | g.215011575T>C | CA431151494 | ABCA12 | c.2196A>G (p.Gln732=) c.1242A>G (p.Gln414=) n.2440A>G n.2638A>G | dbSNP gnomAD v4 |
2 | g.215011575T>G | CA350483680 | ABCA12 | c.2196A>C (p.Gln732His) c.1242A>C (p.Gln414His) n.2440A>C n.2638A>C | |
2 | g.215011575T= | CA1327174147 | ABCA12 | c.2196A= (p.Gln732=) c.1242A= (p.Gln414=) n.2440A= n.2638A= | |
2 | g.215011576T>A | CA350483681 | ABCA12 | c.2195A>T (p.Gln732Leu) c.1241A>T (p.Gln414Leu) n.2439A>T n.2637A>T | |
2 | g.215011576T>C | CA350483682 | ABCA12 | c.2195A>G (p.Gln732Arg) c.1241A>G (p.Gln414Arg) n.2439A>G n.2637A>G | dbSNP gnomAD v4 |
2 | g.215011576T>G | CA2092012 | ABCA12 | c.2195A>C (p.Gln732Pro) c.1241A>C (p.Gln414Pro) n.2439A>C n.2637A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011576T= | CA1327174148 | ABCA12 | c.2195A= (p.Gln732=) c.1241A= (p.Gln414=) n.2439A= n.2637A= | |
2 | g.215011577G>A | CA350483683 | ABCA12 | c.2194C>T (p.Gln732Ter) c.1240C>T (p.Gln414Ter) n.2438C>T n.2636C>T | ClinVar |
2 | g.215011577G>C | CA350483684 | ABCA12 | c.2194C>G (p.Gln732Glu) c.1240C>G (p.Gln414Glu) n.2438C>G n.2636C>G | |
2 | g.215011577G>T | CA350483685 | ABCA12 | c.2194C>A (p.Gln732Lys) c.1240C>A (p.Gln414Lys) n.2438C>A n.2636C>A | |
2 | g.215011578A>C | CA431151495 | ABCA12 | c.2193T>G (p.Ser731=) c.1239T>G (p.Ser413=) n.2437T>G n.2635T>G | |
2 | g.215011578A>G | CA431151496 | ABCA12 | c.2193T>C (p.Ser731=) c.1239T>C (p.Ser413=) n.2437T>C n.2635T>C | ClinVar |
2 | g.215011578A>T | CA431151497 | ABCA12 | c.2193T>A (p.Ser731=) c.1239T>A (p.Ser413=) n.2437T>A n.2635T>A | |
2 | g.215011579G>A | CA350483686 | ABCA12 | c.2192C>T (p.Ser731Phe) c.1238C>T (p.Ser413Phe) n.2436C>T n.2634C>T | |
2 | g.215011579G>C | CA350483687 | ABCA12 | c.2192C>G (p.Ser731Cys) c.1238C>G (p.Ser413Cys) n.2436C>G n.2634C>G | |
2 | g.215011579G>T | CA350483688 | ABCA12 | c.2192C>A (p.Ser731Tyr) c.1238C>A (p.Ser413Tyr) n.2436C>A n.2634C>A | |
2 | g.215011580A>C | CA350483689 | ABCA12 | c.2191T>G (p.Ser731Ala) c.1237T>G (p.Ser413Ala) n.2435T>G n.2633T>G | COSMIC COSMIC |
2 | g.215011580A>G | CA350483690 | ABCA12 | c.2191T>C (p.Ser731Pro) c.1237T>C (p.Ser413Pro) n.2435T>C n.2633T>C | |
2 | g.215011580A>T | CA350483691 | ABCA12 | c.2191T>A (p.Ser731Thr) c.1237T>A (p.Ser413Thr) n.2435T>A n.2633T>A | |
2 | g.215011581A>C | CA350483693 | ABCA12 | c.2190T>G (p.Cys730Trp) c.1236T>G (p.Cys412Trp) n.2434T>G n.2632T>G | |
2 | g.215011581A>G | CA431151498 | ABCA12 | c.2190T>C (p.Cys730=) c.1236T>C (p.Cys412=) n.2434T>C n.2632T>C | ClinVar gnomAD v4 |
2 | g.215011581A>T | CA350483692 | ABCA12 | c.2190T>A (p.Cys730Ter) c.1236T>A (p.Cys412Ter) n.2434T>A n.2632T>A | |
2 | g.215011582C>A | CA350483694 | ABCA12 | c.2189G>T (p.Cys730Phe) c.1235G>T (p.Cys412Phe) n.2433G>T n.2631G>T | |
2 | g.215011582C>G | CA350483696 | ABCA12 | c.2189G>C (p.Cys730Ser) c.1235G>C (p.Cys412Ser) n.2433G>C n.2631G>C | |
2 | g.215011582C>T | CA350483695 | ABCA12 | c.2189G>A (p.Cys730Tyr) c.1235G>A (p.Cys412Tyr) n.2433G>A n.2631G>A | |
2 | g.215011583del | CA2577235297 | ABCA12 | c.2188del (p.Cys730ValfsTer10) c.1234del (p.Cys412ValfsTer10) n.2432del n.2630del | |
2 | g.215011583A>C | CA350483697 | ABCA12 | c.2188T>G (p.Cys730Gly) c.1234T>G (p.Cys412Gly) n.2432T>G n.2630T>G | |
2 | g.215011583A>G | CA350483698 | ABCA12 | c.2188T>C (p.Cys730Arg) c.1234T>C (p.Cys412Arg) n.2432T>C n.2630T>C | gnomAD v4 COSMIC COSMIC |
2 | g.215011583A>T | CA350483699 | ABCA12 | c.2188T>A (p.Cys730Ser) c.1234T>A (p.Cys412Ser) n.2432T>A n.2630T>A | |
2 | g.215011584T>A | CA350483700 | ABCA12 | c.2187A>T (p.Leu729Phe) c.1233A>T (p.Leu411Phe) n.2431A>T n.2629A>T | |
2 | g.215011584T>C | CA431151499 | ABCA12 | c.2187A>G (p.Leu729=) c.1233A>G (p.Leu411=) n.2431A>G n.2629A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011584T>G | CA350483701 | ABCA12 | c.2187A>C (p.Leu729Phe) c.1233A>C (p.Leu411Phe) n.2431A>C n.2629A>C | |
2 | g.215011584T= | CA1327174149 | ABCA12 | c.2187A= (p.Leu729=) c.1233A= (p.Leu411=) n.2431A= n.2629A= | |
2 | g.215011585A>C | CA350483702 | ABCA12 | c.2186T>G (p.Leu729Ter) c.1232T>G (p.Leu411Ter) n.2430T>G n.2628T>G | |
2 | g.215011585A>G | CA350483703 | ABCA12 | c.2186T>C (p.Leu729Ser) c.1232T>C (p.Leu411Ser) n.2430T>C n.2628T>C | |
2 | g.215011585A>T | CA350483704 | ABCA12 | c.2186T>A (p.Leu729Ter) c.1232T>A (p.Leu411Ter) n.2430T>A n.2628T>A | |
2 | g.215011586A= | CA1327174150 | ABCA12 | c.2185T= (p.Leu729=) c.1231T= (p.Leu411=) n.2429T= n.2627T= | |
2 | g.215011586A>C | CA350483705 | ABCA12 | c.2185T>G (p.Leu729Val) c.1231T>G (p.Leu411Val) n.2429T>G n.2627T>G | |
2 | g.215011586A>G | CA2092013 | ABCA12 | c.2185T>C (p.Leu729=) c.1231T>C (p.Leu411=) n.2429T>C n.2627T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011586A>T | CA350483706 | ABCA12 | c.2185T>A (p.Leu729Ile) c.1231T>A (p.Leu411Ile) n.2429T>A n.2627T>A | |
2 | g.215011587T>A | CA431151501 | ABCA12 | c.2184A>T (p.Ala728=) c.1230A>T (p.Ala410=) n.2428A>T n.2626A>T | |
2 | g.215011587T>C | CA64844461 | ABCA12 | c.2184A>G (p.Ala728=) c.1230A>G (p.Ala410=) n.2428A>G n.2626A>G | dbSNP |
2 | g.215011587T>G | CA431151500 | ABCA12 | c.2184A>C (p.Ala728=) c.1230A>C (p.Ala410=) n.2428A>C n.2626A>C | |
2 | g.215011587T= | CA1327174151 | ABCA12 | c.2184A= (p.Ala728=) c.1230A= (p.Ala410=) n.2428A= n.2626A= | |
2 | g.215011588G>A | CA350483709 | ABCA12 | c.2183C>T (p.Ala728Val) c.1229C>T (p.Ala410Val) n.2427C>T n.2625C>T | |
2 | g.215011588G>C | CA350483707 | ABCA12 | c.2183C>G (p.Ala728Gly) c.1229C>G (p.Ala410Gly) n.2427C>G n.2625C>G | |
2 | g.215011588G>T | CA350483708 | ABCA12 | c.2183C>A (p.Ala728Glu) c.1229C>A (p.Ala410Glu) n.2427C>A n.2625C>A | |
2 | g.215011589C>A | CA350483710 | ABCA12 | c.2182G>T (p.Ala728Ser) c.1228G>T (p.Ala410Ser) n.2426G>T n.2624G>T | |
2 | g.215011589C= | CA1327174153 | ABCA12 | c.2182G= (p.Ala728=) c.1228G= (p.Ala410=) n.2426G= n.2624G= | |
2 | g.215011589C>G | CA350483711 | ABCA12 | c.2182G>C (p.Ala728Pro) c.1228G>C (p.Ala410Pro) n.2426G>C n.2624G>C | |
2 | g.215011589C>T | CA350483712 | ABCA12 | c.2182G>A (p.Ala728Thr) c.1228G>A (p.Ala410Thr) n.2426G>A n.2624G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011589_215011590delinsCT | CA1327174152 | ABCA12 | c.2181_2182delinsAG (p.Gln727=) c.1227_1228delinsAG (p.Gln409=) n.2425_2426delinsAG n.2623_2624delinsAG | |
2 | g.215011590T>A | CA350483713 | ABCA12 | c.2181A>T (p.Gln727His) c.1227A>T (p.Gln409His) n.2425A>T n.2623A>T | |
2 | g.215011590T>C | CA431151502 | ABCA12 | c.2181A>G (p.Gln727=) c.1227A>G (p.Gln409=) n.2425A>G n.2623A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.215011590T>G | CA350483714 | ABCA12 | c.2181A>C (p.Gln727His) c.1227A>C (p.Gln409His) n.2425A>C n.2623A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011590T= | CA1327174154 | ABCA12 | c.2181A= (p.Gln727=) c.1227A= (p.Gln409=) n.2425A= n.2623A= | |
2 | g.215011591del | CA539837710 | ABCA12 | c.2181del (p.Ala728HisfsTer12) c.1227del (p.Ala410HisfsTer12) n.2425del n.2623del | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011591T>A | CA350483715 | ABCA12 | c.2180A>T (p.Gln727Leu) c.1226A>T (p.Gln409Leu) n.2424A>T n.2622A>T | |
2 | g.215011591T>C | CA350483716 | ABCA12 | c.2180A>G (p.Gln727Arg) c.1226A>G (p.Gln409Arg) n.2424A>G n.2622A>G | |
2 | g.215011591T>G | CA350483717 | ABCA12 | c.2180A>C (p.Gln727Pro) c.1226A>C (p.Gln409Pro) n.2424A>C n.2622A>C | |
2 | g.215011592G>A | CA350483718 | ABCA12 | c.2179C>T (p.Gln727Ter) c.1225C>T (p.Gln409Ter) n.2423C>T n.2621C>T | |
2 | g.215011592G>C | CA350483719 | ABCA12 | c.2179C>G (p.Gln727Glu) c.1225C>G (p.Gln409Glu) n.2423C>G n.2621C>G | |
2 | g.215011592G>T | CA350483720 | ABCA12 | c.2179C>A (p.Gln727Lys) c.1225C>A (p.Gln409Lys) n.2423C>A n.2621C>A | |
2 | g.215011593G>A | CA431151503 | ABCA12 | c.2178C>T (p.Ser726=) c.1224C>T (p.Ser408=) n.2422C>T n.2620C>T | COSMIC COSMIC |
2 | g.215011593G>C | CA431151505 | ABCA12 | c.2178C>G (p.Ser726=) c.1224C>G (p.Ser408=) n.2422C>G n.2620C>G | dbSNP |
2 | g.215011593G= | CA1327174155 | ABCA12 | c.2178C= (p.Ser726=) c.1224C= (p.Ser408=) n.2422C= n.2620C= | |
2 | g.215011593G>T | CA431151504 | ABCA12 | c.2178C>A (p.Ser726=) c.1224C>A (p.Ser408=) n.2422C>A n.2620C>A | |
2 | g.215011594G>A | CA350483721 | ABCA12 | c.2177C>T (p.Ser726Phe) c.1223C>T (p.Ser408Phe) n.2421C>T n.2619C>T | |
2 | g.215011594G>C | CA350483722 | ABCA12 | c.2177C>G (p.Ser726Cys) c.1223C>G (p.Ser408Cys) n.2421C>G n.2619C>G | dbSNP gnomAD v4 |
2 | g.215011594G= | CA1327174156 | ABCA12 | c.2177C= (p.Ser726=) c.1223C= (p.Ser408=) n.2421C= n.2619C= | |
2 | g.215011594G>T | CA2092014 | ABCA12 | c.2177C>A (p.Ser726Tyr) c.1223C>A (p.Ser408Tyr) n.2421C>A n.2619C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011595A>C | CA350483723 | ABCA12 | c.2176T>G (p.Ser726Ala) c.1222T>G (p.Ser408Ala) n.2420T>G n.2618T>G | |
2 | g.215011595A>G | CA350483724 | ABCA12 | c.2176T>C (p.Ser726Pro) c.1222T>C (p.Ser408Pro) n.2420T>C n.2618T>C | |
2 | g.215011595A>T | CA350483725 | ABCA12 | c.2176T>A (p.Ser726Thr) c.1222T>A (p.Ser408Thr) n.2420T>A n.2618T>A | |
2 | g.215011596G>A | CA431151506 | ABCA12 | c.2175C>T (p.Ile725=) c.1221C>T (p.Ile407=) n.2419C>T n.2617C>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011596G>C | CA350483726 | ABCA12 | c.2175C>G (p.Ile725Met) c.1221C>G (p.Ile407Met) n.2419C>G n.2617C>G | gnomAD v4 |
2 | g.215011596G= | CA1327174157 | ABCA12 | c.2175C= (p.Ile725=) c.1221C= (p.Ile407=) n.2419C= n.2617C= | |
2 | g.215011596G>T | CA431151507 | ABCA12 | c.2175C>A (p.Ile725=) c.1221C>A (p.Ile407=) n.2419C>A n.2617C>A | |
2 | g.215011597A>C | CA350483727 | ABCA12 | c.2174T>G (p.Ile725Ser) c.1220T>G (p.Ile407Ser) n.2418T>G n.2616T>G | |
2 | g.215011597A>G | CA350483728 | ABCA12 | c.2174T>C (p.Ile725Thr) c.1220T>C (p.Ile407Thr) n.2418T>C n.2616T>C | |
2 | g.215011597A>T | CA350483729 | ABCA12 | c.2174T>A (p.Ile725Asn) c.1220T>A (p.Ile407Asn) n.2418T>A n.2616T>A | |
2 | g.215011598T>A | CA350483730 | ABCA12 | c.2173A>T (p.Ile725Phe) c.1219A>T (p.Ile407Phe) n.2417A>T n.2615A>T | |
2 | g.215011598T>C | CA350483731 | ABCA12 | c.2173A>G (p.Ile725Val) c.1219A>G (p.Ile407Val) n.2417A>G n.2615A>G | dbSNP |
2 | g.215011598T>G | CA350483732 | ABCA12 | c.2173A>C (p.Ile725Leu) c.1219A>C (p.Ile407Leu) n.2417A>C n.2615A>C | |
2 | g.215011598T= | CA1327174158 | ABCA12 | c.2173A= (p.Ile725=) c.1219A= (p.Ile407=) n.2417A= n.2615A= | |
2 | g.215011599G>A | CA431151508 | ABCA12 | c.2172C>T (p.Thr724=) c.1218C>T (p.Thr406=) n.2416C>T n.2614C>T | ClinVar dbSNP |
2 | g.215011599G>C | CA431151509 | ABCA12 | c.2172C>G (p.Thr724=) c.1218C>G (p.Thr406=) n.2416C>G n.2614C>G | |
2 | g.215011599G= | CA1327174159 | ABCA12 | c.2172C= (p.Thr724=) c.1218C= (p.Thr406=) n.2416C= n.2614C= | |
2 | g.215011599G>T | CA431151510 | ABCA12 | c.2172C>A (p.Thr724=) c.1218C>A (p.Thr406=) n.2416C>A n.2614C>A | |
2 | g.215011600G>A | CA350483733 | ABCA12 | c.2171C>T (p.Thr724Ile) c.1217C>T (p.Thr406Ile) n.2415C>T n.2613C>T | |
2 | g.215011600G>C | CA350483734 | ABCA12 | c.2171C>G (p.Thr724Ser) c.1217C>G (p.Thr406Ser) n.2415C>G n.2613C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011600G= | CA1327174160 | ABCA12 | c.2171C= (p.Thr724=) c.1217C= (p.Thr406=) n.2415C= n.2613C= | |
2 | g.215011600G>T | CA350483735 | ABCA12 | c.2171C>A (p.Thr724Asn) c.1217C>A (p.Thr406Asn) n.2415C>A n.2613C>A | |
2 | g.215011601T>A | CA350483738 | ABCA12 | c.2170A>T (p.Thr724Ser) c.1216A>T (p.Thr406Ser) n.2414A>T n.2612A>T | |
2 | g.215011601T>C | CA350483737 | ABCA12 | c.2170A>G (p.Thr724Ala) c.1216A>G (p.Thr406Ala) n.2414A>G n.2612A>G | |
2 | g.215011601T>G | CA350483736 | ABCA12 | c.2170A>C (p.Thr724Pro) c.1216A>C (p.Thr406Pro) n.2414A>C n.2612A>C | |
2 | g.215011602G>A | CA431151511 | ABCA12 | c.2169C>T (p.Ser723=) c.1215C>T (p.Ser405=) n.2413C>T n.2611C>T | gnomAD v4 |
2 | g.215011602G>C | CA350483739 | ABCA12 | c.2169C>G (p.Ser723Arg) c.1215C>G (p.Ser405Arg) n.2413C>G n.2611C>G | dbSNP |
2 | g.215011602G= | CA1327174161 | ABCA12 | c.2169C= (p.Ser723=) c.1215C= (p.Ser405=) n.2413C= n.2611C= | |
2 | g.215011602G>T | CA350483740 | ABCA12 | c.2169C>A (p.Ser723Arg) c.1215C>A (p.Ser405Arg) n.2413C>A n.2611C>A | |
2 | g.215011603C>A | CA350483741 | ABCA12 | c.2168G>T (p.Ser723Ile) c.1214G>T (p.Ser405Ile) n.2412G>T n.2610G>T | |
2 | g.215011603C= | CA1327174162 | ABCA12 | c.2168G= (p.Ser723=) c.1214G= (p.Ser405=) n.2412G= n.2610G= | |
2 | g.215011603C>G | CA350483742 | ABCA12 | c.2168G>C (p.Ser723Thr) c.1214G>C (p.Ser405Thr) n.2412G>C n.2610G>C | |
2 | g.215011603C>T | CA2092015 | ABCA12 | c.2168G>A (p.Ser723Asn) c.1214G>A (p.Ser405Asn) n.2412G>A n.2610G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011604T>A | CA350483743 | ABCA12 | c.2167A>T (p.Ser723Cys) c.1213A>T (p.Ser405Cys) n.2411A>T n.2609A>T | |
2 | g.215011604T>C | CA64844467 | ABCA12 | c.2167A>G (p.Ser723Gly) c.1213A>G (p.Ser405Gly) n.2411A>G n.2609A>G | dbSNP gnomAD v4 |
2 | g.215011604T>G | CA350483744 | ABCA12 | c.2167A>C (p.Ser723Arg) c.1213A>C (p.Ser405Arg) n.2411A>C n.2609A>C | |
2 | g.215011604T= | CA1327174163 | ABCA12 | c.2167A= (p.Ser723=) c.1213A= (p.Ser405=) n.2411A= n.2609A= | |
2 | g.215011605A>C | CA350483745 | ABCA12 | c.2166T>G (p.Phe722Leu) c.1212T>G (p.Phe404Leu) n.2410T>G n.2608T>G | |
2 | g.215011605A>G | CA431151512 | ABCA12 | c.2166T>C (p.Phe722=) c.1212T>C (p.Phe404=) n.2410T>C n.2608T>C | |
2 | g.215011605A>T | CA350483746 | ABCA12 | c.2166T>A (p.Phe722Leu) c.1212T>A (p.Phe404Leu) n.2410T>A n.2608T>A | |
2 | g.215011606A>C | CA350483747 | ABCA12 | c.2165T>G (p.Phe722Cys) c.1211T>G (p.Phe404Cys) n.2409T>G n.2607T>G | |
2 | g.215011606A>G | CA350483748 | ABCA12 | c.2165T>C (p.Phe722Ser) c.1211T>C (p.Phe404Ser) n.2409T>C n.2607T>C | |
2 | g.215011606A>T | CA350483749 | ABCA12 | c.2165T>A (p.Phe722Tyr) c.1211T>A (p.Phe404Tyr) n.2409T>A n.2607T>A | |
2 | g.215011607A>C | CA350483752 | ABCA12 | c.2164T>G (p.Phe722Val) c.1210T>G (p.Phe404Val) n.2408T>G n.2606T>G | |
2 | g.215011607A>G | CA350483751 | ABCA12 | c.2164T>C (p.Phe722Leu) c.1210T>C (p.Phe404Leu) n.2408T>C n.2606T>C | |
2 | g.215011607A>T | CA350483750 | ABCA12 | c.2164T>A (p.Phe722Ile) c.1210T>A (p.Phe404Ile) n.2408T>A n.2606T>A | |
2 | g.215011608T>A | CA431151513 | ABCA12 | c.2163A>T (p.Ser721=) c.1209A>T (p.Ser403=) n.2407A>T n.2605A>T | |
2 | g.215011608T>C | CA64844473 | ABCA12 | c.2163A>G (p.Ser721=) c.1209A>G (p.Ser403=) n.2407A>G n.2605A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011608T>G | CA431151514 | ABCA12 | c.2163A>C (p.Ser721=) c.1209A>C (p.Ser403=) n.2407A>C n.2605A>C | |
2 | g.215011608T= | CA1327174164 | ABCA12 | c.2163A= (p.Ser721=) c.1209A= (p.Ser403=) n.2407A= n.2605A= | |
2 | g.215011609G>A | CA350483753 | ABCA12 | c.2162C>T (p.Ser721Leu) c.1208C>T (p.Ser403Leu) n.2406C>T n.2604C>T | |
2 | g.215011609G>C | CA350483755 | ABCA12 | c.2162C>G (p.Ser721Ter) c.1208C>G (p.Ser403Ter) n.2406C>G n.2604C>G | |
2 | g.215011609G>T | CA350483754 | ABCA12 | c.2162C>A (p.Ser721Ter) c.1208C>A (p.Ser403Ter) n.2406C>A n.2604C>A | |
2 | g.215011610A= | CA1327174165 | ABCA12 | c.2161T= (p.Ser721=) c.1207T= (p.Ser403=) n.2405T= n.2603T= | |
2 | g.215011610A>C | CA350483756 | ABCA12 | c.2161T>G (p.Ser721Ala) c.1207T>G (p.Ser403Ala) n.2405T>G n.2603T>G | dbSNP |
2 | g.215011610A>G | CA350483758 | ABCA12 | c.2161T>C (p.Ser721Pro) c.1207T>C (p.Ser403Pro) n.2405T>C n.2603T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011610A>T | CA350483757 | ABCA12 | c.2161T>A (p.Ser721Thr) c.1207T>A (p.Ser403Thr) n.2405T>A n.2603T>A | |
2 | g.215011611T>A | CA431151515 | ABCA12 | c.2160A>T (p.Gly720=) c.1206A>T (p.Gly402=) n.2404A>T n.2602A>T | gnomAD v4 |
2 | g.215011611T>C | CA431151516 | ABCA12 | c.2160A>G (p.Gly720=) c.1206A>G (p.Gly402=) n.2404A>G n.2602A>G | |
2 | g.215011611T>G | CA431151517 | ABCA12 | c.2160A>C (p.Gly720=) c.1206A>C (p.Gly402=) n.2404A>C n.2602A>C | |
2 | g.215011612C>A | CA64844507 | ABCA12 | c.2159G>T (p.Gly720Val) c.1205G>T (p.Gly402Val) n.2403G>T n.2601G>T | dbSNP gnomAD v4 |
2 | g.215011612C= | CA1327174166 | ABCA12 | c.2159G= (p.Gly720=) c.1205G= (p.Gly402=) n.2403G= n.2601G= | |
2 | g.215011612C>G | CA350483759 | ABCA12 | c.2159G>C (p.Gly720Ala) c.1205G>C (p.Gly402Ala) n.2403G>C n.2601G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011612C>T | CA10614260 | ABCA12 | c.2159G>A (p.Gly720Glu) c.1205G>A (p.Gly402Glu) n.2403G>A n.2601G>A | ClinVar dbSNP COSMIC COSMIC |
2 | g.215011613C>A | CA2092016 | ABCA12 | c.2158G>T (p.Gly720Ter) c.1204G>T (p.Gly402Ter) n.2402G>T n.2600G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011613C= | CA1327174167 | ABCA12 | c.2158G= (p.Gly720=) c.1204G= (p.Gly402=) n.2402G= n.2600G= | |
2 | g.215011613C>G | CA350483760 | ABCA12 | c.2158G>C (p.Gly720Arg) c.1204G>C (p.Gly402Arg) n.2402G>C n.2600G>C | |
2 | g.215011613C>T | CA350483761 | ABCA12 | c.2158G>A (p.Gly720Arg) c.1204G>A (p.Gly402Arg) n.2402G>A n.2600G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011614T>A | CA350483762 | ABCA12 | c.2157A>T (p.Gln719His) c.1203A>T (p.Gln401His) n.2401A>T n.2599A>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011614T>C | CA2092017 | ABCA12 | c.2157A>G (p.Gln719=) c.1203A>G (p.Gln401=) n.2401A>G n.2599A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011614T>G | CA350483763 | ABCA12 | c.2157A>C (p.Gln719His) c.1203A>C (p.Gln401His) n.2401A>C n.2599A>C | |
2 | g.215011614T= | CA1327174168 | ABCA12 | c.2157A= (p.Gln719=) c.1203A= (p.Gln401=) n.2401A= n.2599A= | |
2 | g.215011615del | CA2586971328 | ABCA12 | c.2157del (p.Gly720AspfsTer20) c.1203del (p.Gly402AspfsTer20) n.2401del n.2599del | |
2 | g.215011615T>A | CA350483766 | ABCA12 | c.2156A>T (p.Gln719Leu) c.1202A>T (p.Gln401Leu) n.2400A>T n.2598A>T | |
2 | g.215011615T>C | CA350483765 | ABCA12 | c.2156A>G (p.Gln719Arg) c.1202A>G (p.Gln401Arg) n.2400A>G n.2598A>G | |
2 | g.215011615T>G | CA350483764 | ABCA12 | c.2156A>C (p.Gln719Pro) c.1202A>C (p.Gln401Pro) n.2400A>C n.2598A>C | |
2 | g.215011616G>A | CA350483767 | ABCA12 | c.2155C>T (p.Gln719Ter) c.1201C>T (p.Gln401Ter) n.2399C>T n.2597C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011616G>C | CA350483768 | ABCA12 | c.2155C>G (p.Gln719Glu) c.1201C>G (p.Gln401Glu) n.2399C>G n.2597C>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011616G= | CA1327174169 | ABCA12 | c.2155C= (p.Gln719=) c.1201C= (p.Gln401=) n.2399C= n.2597C= | |
2 | g.215011616G>T | CA350483769 | ABCA12 | c.2155C>A (p.Gln719Lys) c.1201C>A (p.Gln401Lys) n.2399C>A n.2597C>A | |
2 | g.215011617T>A | CA431151519 | ABCA12 | c.2154A>T (p.Pro718=) c.1200A>T (p.Pro400=) n.2398A>T n.2596A>T | |
2 | g.215011617T>C | CA2092018 | ABCA12 | c.2154A>G (p.Pro718=) c.1200A>G (p.Pro400=) n.2398A>G n.2596A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011617T>G | CA431151520 | ABCA12 | c.2154A>C (p.Pro718=) c.1200A>C (p.Pro400=) n.2398A>C n.2596A>C | ClinVar |
2 | g.215011617T= | CA1327174170 | ABCA12 | c.2154A= (p.Pro718=) c.1200A= (p.Pro400=) n.2398A= n.2596A= | |
2 | g.215011618G>A | CA350483771 | ABCA12 | c.2153C>T (p.Pro718Leu) c.1199C>T (p.Pro400Leu) n.2397C>T n.2595C>T | gnomAD v4 |
2 | g.215011618G>C | CA350483772 | ABCA12 | c.2153C>G (p.Pro718Arg) c.1199C>G (p.Pro400Arg) n.2397C>G n.2595C>G | |
2 | g.215011618G>T | CA350483774 | ABCA12 | c.2153C>A (p.Pro718Gln) c.1199C>A (p.Pro400Gln) n.2397C>A n.2595C>A | |
2 | g.215011619G>A | CA350483776 | ABCA12 | c.2152C>T (p.Pro718Ser) c.1198C>T (p.Pro400Ser) n.2396C>T n.2594C>T | |
2 | g.215011619G>C | CA350483782 | ABCA12 | c.2152C>G (p.Pro718Ala) c.1198C>G (p.Pro400Ala) n.2396C>G n.2594C>G | |
2 | g.215011619G>T | CA350483786 | ABCA12 | c.2152C>A (p.Pro718Thr) c.1198C>A (p.Pro400Thr) n.2396C>A n.2594C>A | |
2 | g.215011620T>A | CA431151521 | ABCA12 | c.2151A>T (p.Thr717=) c.1197A>T (p.Thr399=) n.2395A>T n.2593A>T | |
2 | g.215011620T>C | CA431151522 | ABCA12 | c.2151A>G (p.Thr717=) c.1197A>G (p.Thr399=) n.2395A>G n.2593A>G | gnomAD v4 |
2 | g.215011620T>G | CA2092019 | ABCA12 | c.2151A>C (p.Thr717=) c.1197A>C (p.Thr399=) n.2395A>C n.2593A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011620T= | CA1327174171 | ABCA12 | c.2151A= (p.Thr717=) c.1197A= (p.Thr399=) n.2395A= n.2593A= | |
2 | g.215011621G>A | CA350483794 | ABCA12 | c.2150C>T (p.Thr717Ile) c.1196C>T (p.Thr399Ile) n.2394C>T n.2592C>T | |
2 | g.215011621G>C | CA2092020 | ABCA12 | c.2150C>G (p.Thr717Arg) c.1196C>G (p.Thr399Arg) n.2394C>G n.2592C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011621G= | CA1327174172 | ABCA12 | c.2150C= (p.Thr717=) c.1196C= (p.Thr399=) n.2394C= n.2592C= | |
2 | g.215011621G>T | CA350483792 | ABCA12 | c.2150C>A (p.Thr717Lys) c.1196C>A (p.Thr399Lys) n.2394C>A n.2592C>A | |
2 | g.215011622T>A | CA350483798 | ABCA12 | c.2149A>T (p.Thr717Ser) c.1195A>T (p.Thr399Ser) n.2393A>T n.2591A>T | |
2 | g.215011622T>C | CA350483800 | ABCA12 | c.2149A>G (p.Thr717Ala) c.1195A>G (p.Thr399Ala) n.2393A>G n.2591A>G | |
2 | g.215011622T>G | CA350483801 | ABCA12 | c.2149A>C (p.Thr717Pro) c.1195A>C (p.Thr399Pro) n.2393A>C n.2591A>C | gnomAD v4 COSMIC COSMIC |
2 | g.215011623G>A | CA431151525 | ABCA12 | c.2148C>T (p.Asn716=) c.1194C>T (p.Asn398=) n.2392C>T n.2590C>T | |
2 | g.215011623G>C | CA350483802 | ABCA12 | c.2148C>G (p.Asn716Lys) c.1194C>G (p.Asn398Lys) n.2392C>G n.2590C>G | |
2 | g.215011623G>T | CA350483804 | ABCA12 | c.2148C>A (p.Asn716Lys) c.1194C>A (p.Asn398Lys) n.2392C>A n.2590C>A | gnomAD v4 |
2 | g.215011624T>A | CA350483807 | ABCA12 | c.2147A>T (p.Asn716Ile) c.1193A>T (p.Asn398Ile) n.2391A>T n.2589A>T | |
2 | g.215011624T>C | CA350483812 | ABCA12 | c.2147A>G (p.Asn716Ser) c.1193A>G (p.Asn398Ser) n.2391A>G n.2589A>G | |
2 | g.215011624T>G | CA350483814 | ABCA12 | c.2147A>C (p.Asn716Thr) c.1193A>C (p.Asn398Thr) n.2391A>C n.2589A>C | |
2 | g.215011625T>A | CA350483817 | ABCA12 | c.2146A>T (p.Asn716Tyr) c.1192A>T (p.Asn398Tyr) n.2390A>T n.2588A>T | dbSNP gnomAD v4 |
2 | g.215011625T>C | CA350483818 | ABCA12 | c.2146A>G (p.Asn716Asp) c.1192A>G (p.Asn398Asp) n.2390A>G n.2588A>G | |
2 | g.215011625T>G | CA350483819 | ABCA12 | c.2146A>C (p.Asn716His) c.1192A>C (p.Asn398His) n.2390A>C n.2588A>C | |
2 | g.215011625T= | CA1327174173 | ABCA12 | c.2146A= (p.Asn716=) c.1192A= (p.Asn398=) n.2390A= n.2588A= | |
2 | g.215011626C>A | CA350483823 | ABCA12 | c.2145G>T (p.Met715Ile) c.1191G>T (p.Met397Ile) n.2389G>T n.2587G>T | |
2 | g.215011626C= | CA1327174174 | ABCA12 | c.2145G= (p.Met715=) c.1191G= (p.Met397=) n.2389G= n.2587G= | |
2 | g.215011626C>G | CA350483825 | ABCA12 | c.2145G>C (p.Met715Ile) c.1191G>C (p.Met397Ile) n.2389G>C n.2587G>C | dbSNP |
2 | g.215011626C>T | CA350483820 | ABCA12 | c.2145G>A (p.Met715Ile) c.1191G>A (p.Met397Ile) n.2389G>A n.2587G>A | COSMIC COSMIC |
2 | g.215011627A>C | CA350483829 | ABCA12 | c.2144T>G (p.Met715Arg) c.1190T>G (p.Met397Arg) n.2388T>G n.2586T>G | gnomAD v4 |
2 | g.215011627A>G | CA350483831 | ABCA12 | c.2144T>C (p.Met715Thr) c.1190T>C (p.Met397Thr) n.2388T>C n.2586T>C | gnomAD v4 |
2 | g.215011627A>T | CA350483833 | ABCA12 | c.2144T>A (p.Met715Lys) c.1190T>A (p.Met397Lys) n.2388T>A n.2586T>A | |
2 | g.215011628T>A | CA350483835 | ABCA12 | c.2143A>T (p.Met715Leu) c.1189A>T (p.Met397Leu) n.2387A>T n.2585A>T | |
2 | g.215011628T>C | CA350483836 | ABCA12 | c.2143A>G (p.Met715Val) c.1189A>G (p.Met397Val) n.2387A>G n.2585A>G | |
2 | g.215011628T>G | CA350483837 | ABCA12 | c.2143A>C (p.Met715Leu) c.1189A>C (p.Met397Leu) n.2387A>C n.2585A>C | |
2 | g.215011629T>A | CA431151527 | ABCA12 | c.2142A>T (p.Arg714=) c.1188A>T (p.Arg396=) n.2386A>T n.2584A>T | |
2 | g.215011629T>C | CA431151528 | ABCA12 | c.2142A>G (p.Arg714=) c.1188A>G (p.Arg396=) n.2386A>G n.2584A>G | |
2 | g.215011629T>G | CA431151529 | ABCA12 | c.2142A>C (p.Arg714=) c.1188A>C (p.Arg396=) n.2386A>C n.2584A>C | |
2 | g.215011630C>A | CA350483839 | ABCA12 | c.2141G>T (p.Arg714Leu) c.1187G>T (p.Arg396Leu) n.2385G>T n.2583G>T | |
2 | g.215011630C= | CA1327174175 | ABCA12 | c.2141G= (p.Arg714=) c.1187G= (p.Arg396=) n.2385G= n.2583G= | |
2 | g.215011630C>G | CA350483842 | ABCA12 | c.2141G>C (p.Arg714Pro) c.1187G>C (p.Arg396Pro) n.2385G>C n.2583G>C | |
2 | g.215011630C>T | CA2092021 | ABCA12 | c.2141G>A (p.Arg714Gln) c.1187G>A (p.Arg396Gln) n.2385G>A n.2583G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
2 | g.215011631G>A | CA2092022 | ABCA12 | c.2140C>T (p.Arg714Ter) c.1186C>T (p.Arg396Ter) n.2384C>T n.2582C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011631G>C | CA350483847 | ABCA12 | c.2140C>G (p.Arg714Gly) c.1186C>G (p.Arg396Gly) n.2384C>G n.2582C>G | |
2 | g.215011631G= | CA1327174176 | ABCA12 | c.2140C= (p.Arg714=) c.1186C= (p.Arg396=) n.2384C= n.2582C= | |
2 | g.215011631G>T | CA431151530 | ABCA12 | c.2140C>A (p.Arg714=) c.1186C>A (p.Arg396=) n.2384C>A n.2582C>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011632G>A | CA2092023 | ABCA12 | c.2139C>T (p.Asn713=) c.1185C>T (p.Asn395=) n.2383C>T n.2581C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011632G>C | CA350483854 | ABCA12 | c.2139C>G (p.Asn713Lys) c.1185C>G (p.Asn395Lys) n.2383C>G n.2581C>G | |
2 | g.215011632G= | CA1327174177 | ABCA12 | c.2139C= (p.Asn713=) c.1185C= (p.Asn395=) n.2383C= n.2581C= | |
2 | g.215011632G>T | CA350483855 | ABCA12 | c.2139C>A (p.Asn713Lys) c.1185C>A (p.Asn395Lys) n.2383C>A n.2581C>A | |
2 | g.215011633T>A | CA350483857 | ABCA12 | c.2138A>T (p.Asn713Ile) c.1184A>T (p.Asn395Ile) n.2382A>T n.2580A>T | |
2 | g.215011633T>C | CA350483858 | ABCA12 | c.2138A>G (p.Asn713Ser) c.1184A>G (p.Asn395Ser) n.2382A>G n.2580A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011633T>G | CA350483856 | ABCA12 | c.2138A>C (p.Asn713Thr) c.1184A>C (p.Asn395Thr) n.2382A>C n.2580A>C | |
2 | g.215011633T= | CA1327174178 | ABCA12 | c.2138A= (p.Asn713=) c.1184A= (p.Asn395=) n.2382A= n.2580A= | |
2 | g.215011634T>A | CA350483860 | ABCA12 | c.2137A>T (p.Asn713Tyr) c.1183A>T (p.Asn395Tyr) n.2381A>T n.2579A>T | |
2 | g.215011634T>C | CA350483861 | ABCA12 | c.2137A>G (p.Asn713Asp) c.1183A>G (p.Asn395Asp) n.2381A>G n.2579A>G | dbSNP gnomAD v4 |
2 | g.215011634T>G | CA350483862 | ABCA12 | c.2137A>C (p.Asn713His) c.1183A>C (p.Asn395His) n.2381A>C n.2579A>C | |
2 | g.215011634T= | CA1327174179 | ABCA12 | c.2137A= (p.Asn713=) c.1183A= (p.Asn395=) n.2381A= n.2579A= | |
2 | g.215011635G>A | CA2092024 | ABCA12 | c.2136C>T (p.Ser712=) c.1182C>T (p.Ser394=) n.2380C>T n.2578C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011635G>C | CA350483863 | ABCA12 | c.2136C>G (p.Ser712Arg) c.1182C>G (p.Ser394Arg) n.2380C>G n.2578C>G | gnomAD v4 |
2 | g.215011635G= | CA1327174180 | ABCA12 | c.2136C= (p.Ser712=) c.1182C= (p.Ser394=) n.2380C= n.2578C= | |
2 | g.215011635G>T | CA350483864 | ABCA12 | c.2136C>A (p.Ser712Arg) c.1182C>A (p.Ser394Arg) n.2380C>A n.2578C>A | |
2 | g.215011636C>A | CA350483869 | ABCA12 | c.2135G>T (p.Ser712Ile) c.1181G>T (p.Ser394Ile) n.2379G>T n.2577G>T | |
2 | g.215011636C>G | CA350483865 | ABCA12 | c.2135G>C (p.Ser712Thr) c.1181G>C (p.Ser394Thr) n.2379G>C n.2577G>C | |
2 | g.215011636C>T | CA350483868 | ABCA12 | c.2135G>A (p.Ser712Asn) c.1181G>A (p.Ser394Asn) n.2379G>A n.2577G>A | |
2 | g.215011637T>A | CA350483870 | ABCA12 | c.2134A>T (p.Ser712Cys) c.1180A>T (p.Ser394Cys) n.2378A>T n.2576A>T | |
2 | g.215011637T>C | CA350483872 | ABCA12 | c.2134A>G (p.Ser712Gly) c.1180A>G (p.Ser394Gly) n.2378A>G n.2576A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011637T>G | CA350483876 | ABCA12 | c.2134A>C (p.Ser712Arg) c.1180A>C (p.Ser394Arg) n.2378A>C n.2576A>C | COSMIC |
2 | g.215011637T= | CA1327174181 | ABCA12 | c.2134A= (p.Ser712=) c.1180A= (p.Ser394=) n.2378A= n.2576A= | |
2 | g.215011638T>A | CA350483877 | ABCA12 | c.2133A>T (p.Arg711Ser) c.1179A>T (p.Arg393Ser) n.2377A>T n.2575A>T | |
2 | g.215011638T>C | CA431151531 | ABCA12 | c.2133A>G (p.Arg711=) c.1179A>G (p.Arg393=) n.2377A>G n.2575A>G | |
2 | g.215011638T>G | CA350483879 | ABCA12 | c.2133A>C (p.Arg711Ser) c.1179A>C (p.Arg393Ser) n.2377A>C n.2575A>C | |
2 | g.215011639C>A | CA350483886 | ABCA12 | c.2132G>T (p.Arg711Ile) c.1178G>T (p.Arg393Ile) n.2376G>T n.2574G>T | |
2 | g.215011639C>G | CA350483882 | ABCA12 | c.2132G>C (p.Arg711Thr) c.1178G>C (p.Arg393Thr) n.2376G>C n.2574G>C | |
2 | g.215011639C>T | CA350483884 | ABCA12 | c.2132G>A (p.Arg711Lys) c.1178G>A (p.Arg393Lys) n.2376G>A n.2574G>A | COSMIC COSMIC |
2 | g.215011640T>A | CA350483887 | ABCA12 | c.2131A>T (p.Arg711Ter) c.1177A>T (p.Arg393Ter) n.2375A>T n.2573A>T | gnomAD v4 |
2 | g.215011640T>C | CA350483888 | ABCA12 | c.2131A>G (p.Arg711Gly) c.1177A>G (p.Arg393Gly) n.2375A>G n.2573A>G | |
2 | g.215011640T>G | CA431151532 | ABCA12 | c.2131A>C (p.Arg711=) c.1177A>C (p.Arg393=) n.2375A>C n.2573A>C | |
2 | g.215011641G>A | CA431151533 | ABCA12 | c.2130C>T (p.Tyr710=) c.1176C>T (p.Tyr392=) n.2374C>T n.2572C>T | ClinVar gnomAD v4 |
2 | g.215011641G>C | CA350483890 | ABCA12 | c.2130C>G (p.Tyr710Ter) c.1176C>G (p.Tyr392Ter) n.2374C>G n.2572C>G | |
2 | g.215011641G>T | CA350483897 | ABCA12 | c.2130C>A (p.Tyr710Ter) c.1176C>A (p.Tyr392Ter) n.2374C>A n.2572C>A | |
2 | g.215011642T>A | CA2092025 | ABCA12 | c.2129A>T (p.Tyr710Phe) c.1175A>T (p.Tyr392Phe) n.2373A>T n.2571A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011642T>C | CA2092026 | ABCA12 | c.2129A>G (p.Tyr710Cys) c.1175A>G (p.Tyr392Cys) n.2373A>G n.2571A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011642T>G | CA350483903 | ABCA12 | c.2129A>C (p.Tyr710Ser) c.1175A>C (p.Tyr392Ser) n.2373A>C n.2571A>C | |
2 | g.215011642T= | CA1327174182 | ABCA12 | c.2129A= (p.Tyr710=) c.1175A= (p.Tyr392=) n.2373A= n.2571A= | |
2 | g.215011643A>C | CA350483906 | ABCA12 | c.2128T>G (p.Tyr710Asp) c.1174T>G (p.Tyr392Asp) n.2372T>G n.2570T>G | |
2 | g.215011643A>G | CA350483907 | ABCA12 | c.2128T>C (p.Tyr710His) c.1174T>C (p.Tyr392His) n.2372T>C n.2570T>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011643A>T | CA350483908 | ABCA12 | c.2128T>A (p.Tyr710Asn) c.1174T>A (p.Tyr392Asn) n.2372T>A n.2570T>A | |
2 | g.215011644C>A | CA350483909 | ABCA12 | c.2127G>T (p.Met709Ile) c.1173G>T (p.Met391Ile) n.2371G>T n.2569G>T | |
2 | g.215011644C>G | CA350483910 | ABCA12 | c.2127G>C (p.Met709Ile) c.1173G>C (p.Met391Ile) n.2371G>C n.2569G>C | |
2 | g.215011644C>T | CA350483913 | ABCA12 | c.2127G>A (p.Met709Ile) c.1173G>A (p.Met391Ile) n.2371G>A n.2569G>A | |
2 | g.215011645A= | CA1327174183 | ABCA12 | c.2126T= (p.Met709=) c.1172T= (p.Met391=) n.2370T= n.2568T= | |
2 | g.215011645A>C | CA350483917 | ABCA12 | c.2126T>G (p.Met709Arg) c.1172T>G (p.Met391Arg) n.2370T>G n.2568T>G | |
2 | g.215011645A>G | CA350483921 | ABCA12 | c.2126T>C (p.Met709Thr) c.1172T>C (p.Met391Thr) n.2370T>C n.2568T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011645A>T | CA350483919 | ABCA12 | c.2126T>A (p.Met709Lys) c.1172T>A (p.Met391Lys) n.2370T>A n.2568T>A | |
2 | g.215011646T>A | CA350483922 | ABCA12 | c.2125A>T (p.Met709Leu) c.1171A>T (p.Met391Leu) n.2369A>T n.2567A>T | |
2 | g.215011646T>C | CA350483923 | ABCA12 | c.2125A>G (p.Met709Val) c.1171A>G (p.Met391Val) n.2369A>G n.2567A>G | |
2 | g.215011646T>G | CA350483924 | ABCA12 | c.2125A>C (p.Met709Leu) c.1171A>C (p.Met391Leu) n.2369A>C n.2567A>C | |
2 | g.215011647T>A | CA431151534 | ABCA12 | c.2124A>T (p.Ala708=) c.1170A>T (p.Ala390=) n.2368A>T n.2566A>T | dbSNP |
2 | g.215011647T>C | CA2092027 | ABCA12 | c.2124A>G (p.Ala708=) c.1170A>G (p.Ala390=) n.2368A>G n.2566A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011647T>G | CA431151535 | ABCA12 | c.2124A>C (p.Ala708=) c.1170A>C (p.Ala390=) n.2368A>C n.2566A>C | |
2 | g.215011647T= | CA1327174184 | ABCA12 | c.2124A= (p.Ala708=) c.1170A= (p.Ala390=) n.2368A= n.2566A= | |
2 | g.215011648G>A | CA2092028 | ABCA12 | c.2123C>T (p.Ala708Val) c.1169C>T (p.Ala390Val) n.2367C>T n.2565C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
2 | g.215011648G>C | CA350483935 | ABCA12 | c.2123C>G (p.Ala708Gly) c.1169C>G (p.Ala390Gly) n.2367C>G n.2565C>G | |
2 | g.215011648G= | CA1327174185 | ABCA12 | c.2123C= (p.Ala708=) c.1169C= (p.Ala390=) n.2367C= n.2565C= | |
2 | g.215011648G>T | CA350483938 | ABCA12 | c.2123C>A (p.Ala708Glu) c.1169C>A (p.Ala390Glu) n.2367C>A n.2565C>A | dbSNP |
2 | g.215011649C>A | CA350483947 | ABCA12 | c.2122G>T (p.Ala708Ser) c.1168G>T (p.Ala390Ser) n.2366G>T n.2564G>T | |
2 | g.215011649C>G | CA350483951 | ABCA12 | c.2122G>C (p.Ala708Pro) c.1168G>C (p.Ala390Pro) n.2366G>C n.2564G>C | |
2 | g.215011649C>T | CA350483956 | ABCA12 | c.2122G>A (p.Ala708Thr) c.1168G>A (p.Ala390Thr) n.2366G>A n.2564G>A | |
2 | g.215011649_215011650insA | CA2662980457 | ABCA12 | c.2122-1_2122insT (n.2122-1_2122insT) c.1168-1_1168insT (n.1168-1_1168insT) n.2366-1_2366insT n.2564-1_2564insT | gnomAD v4 |
2 | g.215011650C>A | CA350483959 | ABCA12 | c.2122-1G>T (n.2122-1G>T) c.1168-1G>T (n.1168-1G>T) n.2366-1G>T n.2564-1G>T | |
2 | g.215011650C>G | CA350483961 | ABCA12 | c.2122-1G>C (n.2122-1G>C) c.1168-1G>C (n.1168-1G>C) n.2366-1G>C n.2564-1G>C | |
2 | g.215011650C>T | CA350483965 | ABCA12 | c.2122-1G>A (n.2122-1G>A) c.1168-1G>A (n.1168-1G>A) n.2366-1G>A n.2564-1G>A | |
2 | g.215011650_215011651insAAAATGTACAGAATTT | CA2662980458 | ABCA12 | c.2122-2_2122-1insAAATTCTGTACATTTT (n.2122-2_2122-1insAAATTCTGTACATTTT) c.1168-2_1168-1insAAATTCTGTACATTTT (n.1168-2_1168-1insAAATTCTGTACATTTT) n.2366-2_2366-1insAAATTCTGTACATTTT n.2564-2_2564-1insAAATTCTGTACATTTT | gnomAD v4 |
2 | g.215011651T>A | CA350483974 | ABCA12 | c.2122-2A>T (n.2122-2A>T) c.1168-2A>T (n.1168-2A>T) n.2366-2A>T n.2564-2A>T | |
2 | g.215011651T>C | CA350483969 | ABCA12 | c.2122-2A>G (n.2122-2A>G) c.1168-2A>G (n.1168-2A>G) n.2366-2A>G n.2564-2A>G | |
2 | g.215011651T>G | CA350483971 | ABCA12 | c.2122-2A>C (n.2122-2A>C) c.1168-2A>C (n.1168-2A>C) n.2366-2A>C n.2564-2A>C | |
2 | g.215011652G>A | CA2577235298 | ABCA12 | c.2122-3C>T (n.2122-3C>T) c.1168-3C>T (n.1168-3C>T) n.2366-3C>T n.2564-3C>T | gnomAD v4 |
2 | g.215011655_215011656insAAAAAAAA | CA2754210390 | ABCA12 | c.2122-6_2122-5insTTTTTTTT (n.2122-6_2122-5insTTTTTTTT) c.1168-6_1168-5insTTTTTTTT (n.1168-6_1168-5insTTTTTTTT) n.2366-6_2366-5insTTTTTTTT n.2564-6_2564-5insTTTTTTTT | |
2 | g.215011656G>A | CA2662980460 | ABCA12 | c.2122-7C>T (n.2122-7C>T) c.1168-7C>T (n.1168-7C>T) n.2366-7C>T n.2564-7C>T | gnomAD v4 |
2 | g.215011658C= | CA1327174186 | ABCA12 | c.2122-9G= (n.2122-9G=) c.1168-9G= (n.1168-9G=) n.2366-9G= n.2564-9G= | |
2 | g.215011658C>T | CA1327174187 | ABCA12 | c.2122-9G>A (n.2122-9G>A) c.1168-9G>A (n.1168-9G>A) n.2366-9G>A n.2564-9G>A | dbSNP gnomAD v4 |
2 | g.215011659A= | CA1327174188 | ABCA12 | c.2122-10T= (n.2122-10T=) c.1168-10T= (n.1168-10T=) n.2366-10T= n.2564-10T= | |
2 | g.215011659A>C | CA2092029 | ABCA12 | c.2122-10T>G (n.2122-10T>G) c.1168-10T>G (n.1168-10T>G) n.2366-10T>G n.2564-10T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011663del | CA2527221320 | ABCA12 | c.2122-10del (n.2122-10del) c.1168-10del (n.1168-10del) n.2366-10del n.2564-10del | |
2 | g.215011660A>T | CA2662980461 | ABCA12 | c.2122-11T>A (n.2122-11T>A) c.1168-11T>A (n.1168-11T>A) n.2366-11T>A n.2564-11T>A | gnomAD v4 |