Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011503dup | CA16617466 | ABCA12 | c.2273dup (p.Leu758PhefsTer4) c.1319dup (p.Leu440PhefsTer4) n.2517dup n.2715dup | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011503del | CA916772342 | ABCA12 | c.2273del (p.Leu758Ter) c.1319del (p.Leu440Ter) n.2517del n.2715del | dbSNP |
2 | g.215011501_215011503del | CA2506758453 | ABCA12 | c.2271_2273del (p.Phe757del) c.1317_1319del (p.Phe439del) n.2515_2517del n.2713_2715del | |
2 | g.215011503A= | CA1327174120 | ABCA12 | c.2268T= (p.Asp756=) c.1314T= (p.Asp438=) n.2512T= n.2710T= | |
2 | g.215011503A>C | CA350483523 | ABCA12 | c.2268T>G (p.Asp756Glu) c.1314T>G (p.Asp438Glu) n.2512T>G n.2710T>G | |
2 | g.215011503A>G | CA431151444 | ABCA12 | c.2268T>C (p.Asp756=) c.1314T>C (p.Asp438=) n.2512T>C n.2710T>C | ClinVar dbSNP gnomAD v4 |
2 | g.215011503A>T | CA350483524 | ABCA12 | c.2268T>A (p.Asp756Glu) c.1314T>A (p.Asp438Glu) n.2512T>A n.2710T>A | gnomAD v4 |
2 | g.215011504T>A | CA2092001 | ABCA12 | c.2267A>T (p.Asp756Val) c.1313A>T (p.Asp438Val) n.2511A>T n.2709A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011504T>C | CA2092002 | ABCA12 | c.2267A>G (p.Asp756Gly) c.1313A>G (p.Asp438Gly) n.2511A>G n.2709A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011504T>G | CA350483525 | ABCA12 | c.2267A>C (p.Asp756Ala) c.1313A>C (p.Asp438Ala) n.2511A>C n.2709A>C | |
2 | g.215011504T= | CA1327174121 | ABCA12 | c.2267A= (p.Asp756=) c.1313A= (p.Asp438=) n.2511A= n.2709A= | |
2 | g.215011505C>A | CA350483526 | ABCA12 | c.2266G>T (p.Asp756Tyr) c.1312G>T (p.Asp438Tyr) n.2510G>T n.2708G>T | |
2 | g.215011505C>G | CA350483527 | ABCA12 | c.2266G>C (p.Asp756His) c.1312G>C (p.Asp438His) n.2510G>C n.2708G>C | |
2 | g.215011505C>T | CA350483528 | ABCA12 | c.2266G>A (p.Asp756Asn) c.1312G>A (p.Asp438Asn) n.2510G>A n.2708G>A | COSMIC COSMIC |
2 | g.215011506C>A | CA350483529 | ABCA12 | c.2265G>T (p.Lys755Asn) c.1311G>T (p.Lys437Asn) n.2509G>T n.2707G>T | |
2 | g.215011506C>G | CA350483530 | ABCA12 | c.2265G>C (p.Lys755Asn) c.1311G>C (p.Lys437Asn) n.2509G>C n.2707G>C | |
2 | g.215011506C>T | CA431151445 | ABCA12 | c.2265G>A (p.Lys755=) c.1311G>A (p.Lys437=) n.2509G>A n.2707G>A | gnomAD v4 |
2 | g.215011507T>A | CA350483533 | ABCA12 | c.2264A>T (p.Lys755Met) c.1310A>T (p.Lys437Met) n.2508A>T n.2706A>T | |
2 | g.215011507T>C | CA350483532 | ABCA12 | c.2264A>G (p.Lys755Arg) c.1310A>G (p.Lys437Arg) n.2508A>G n.2706A>G | |
2 | g.215011507T>G | CA350483531 | ABCA12 | c.2264A>C (p.Lys755Thr) c.1310A>C (p.Lys437Thr) n.2508A>C n.2706A>C | |
2 | g.215011508T>A | CA350483534 | ABCA12 | c.2263A>T (p.Lys755Ter) c.1309A>T (p.Lys437Ter) n.2507A>T n.2705A>T | |
2 | g.215011508T>C | CA350483535 | ABCA12 | c.2263A>G (p.Lys755Glu) c.1309A>G (p.Lys437Glu) n.2507A>G n.2705A>G | |
2 | g.215011508T>G | CA350483536 | ABCA12 | c.2263A>C (p.Lys755Gln) c.1309A>C (p.Lys437Gln) n.2507A>C n.2705A>C | |
2 | g.215011509G>A | CA431151446 | ABCA12 | c.2262C>T (p.Thr754=) c.1308C>T (p.Thr436=) n.2506C>T n.2704C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011509G>C | CA431151448 | ABCA12 | c.2262C>G (p.Thr754=) c.1308C>G (p.Thr436=) n.2506C>G n.2704C>G | COSMIC COSMIC |
2 | g.215011509G= | CA1327174122 | ABCA12 | c.2262C= (p.Thr754=) c.1308C= (p.Thr436=) n.2506C= n.2704C= | |
2 | g.215011509G>T | CA431151447 | ABCA12 | c.2262C>A (p.Thr754=) c.1308C>A (p.Thr436=) n.2506C>A n.2704C>A | |
2 | g.215011510G>A | CA350483537 | ABCA12 | c.2261C>T (p.Thr754Ile) c.1307C>T (p.Thr436Ile) n.2505C>T n.2703C>T | dbSNP |
2 | g.215011510G>C | CA350483538 | ABCA12 | c.2261C>G (p.Thr754Ser) c.1307C>G (p.Thr436Ser) n.2505C>G n.2703C>G | |
2 | g.215011510G= | CA1327174123 | ABCA12 | c.2261C= (p.Thr754=) c.1307C= (p.Thr436=) n.2505C= n.2703C= | |
2 | g.215011510G>T | CA350483539 | ABCA12 | c.2261C>A (p.Thr754Asn) c.1307C>A (p.Thr436Asn) n.2505C>A n.2703C>A | |
2 | g.215011511T>A | CA350483540 | ABCA12 | c.2260A>T (p.Thr754Ser) c.1306A>T (p.Thr436Ser) n.2504A>T n.2702A>T | |
2 | g.215011511T>C | CA350483541 | ABCA12 | c.2260A>G (p.Thr754Ala) c.1306A>G (p.Thr436Ala) n.2504A>G n.2702A>G | |
2 | g.215011511T>G | CA350483542 | ABCA12 | c.2260A>C (p.Thr754Pro) c.1306A>C (p.Thr436Pro) n.2504A>C n.2702A>C | |
2 | g.215011512G>A | CA431151449 | ABCA12 | c.2259C>T (p.His753=) c.1305C>T (p.His435=) n.2503C>T n.2701C>T | gnomAD v4 |
2 | g.215011512G>C | CA350483543 | ABCA12 | c.2259C>G (p.His753Gln) c.1305C>G (p.His435Gln) n.2503C>G n.2701C>G | |
2 | g.215011512G>T | CA350483544 | ABCA12 | c.2259C>A (p.His753Gln) c.1305C>A (p.His435Gln) n.2503C>A n.2701C>A | |
2 | g.215011513T>A | CA350483547 | ABCA12 | c.2258A>T (p.His753Leu) c.1304A>T (p.His435Leu) n.2502A>T n.2700A>T | |
2 | g.215011513T>C | CA350483546 | ABCA12 | c.2258A>G (p.His753Arg) c.1304A>G (p.His435Arg) n.2502A>G n.2700A>G | gnomAD v4 COSMIC COSMIC |
2 | g.215011513T>G | CA350483545 | ABCA12 | c.2258A>C (p.His753Pro) c.1304A>C (p.His435Pro) n.2502A>C n.2700A>C | |
2 | g.215011514G>A | CA350483548 | ABCA12 | c.2257C>T (p.His753Tyr) c.1303C>T (p.His435Tyr) n.2501C>T n.2699C>T | |
2 | g.215011514G>C | CA350483549 | ABCA12 | c.2257C>G (p.His753Asp) c.1303C>G (p.His435Asp) n.2501C>G n.2699C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011514G= | CA1327174124 | ABCA12 | c.2257C= (p.His753=) c.1303C= (p.His435=) n.2501C= n.2699C= | |
2 | g.215011514G>T | CA350483550 | ABCA12 | c.2257C>A (p.His753Asn) c.1303C>A (p.His435Asn) n.2501C>A n.2699C>A | COSMIC |
2 | g.215011515G>A | CA2092003 | ABCA12 | c.2256C>T (p.Asn752=) c.1302C>T (p.Asn434=) n.2500C>T n.2698C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011515G>C | CA350483551 | ABCA12 | c.2256C>G (p.Asn752Lys) c.1302C>G (p.Asn434Lys) n.2500C>G n.2698C>G | |
2 | g.215011515G= | CA1327174125 | ABCA12 | c.2256C= (p.Asn752=) c.1302C= (p.Asn434=) n.2500C= n.2698C= | |
2 | g.215011515G>T | CA350483552 | ABCA12 | c.2256C>A (p.Asn752Lys) c.1302C>A (p.Asn434Lys) n.2500C>A n.2698C>A | gnomAD v4 |
2 | g.215011516T>A | CA350483553 | ABCA12 | c.2255A>T (p.Asn752Ile) c.1301A>T (p.Asn434Ile) n.2499A>T n.2697A>T | |
2 | g.215011516T>C | CA350483554 | ABCA12 | c.2255A>G (p.Asn752Ser) c.1301A>G (p.Asn434Ser) n.2499A>G n.2697A>G | gnomAD v4 |
2 | g.215011516T>G | CA64844369 | ABCA12 | c.2255A>C (p.Asn752Thr) c.1301A>C (p.Asn434Thr) n.2499A>C n.2697A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011516T= | CA1327174126 | ABCA12 | c.2255A= (p.Asn752=) c.1301A= (p.Asn434=) n.2499A= n.2697A= | |
2 | g.215011517T>A | CA350483555 | ABCA12 | c.2254A>T (p.Asn752Tyr) c.1300A>T (p.Asn434Tyr) n.2498A>T n.2696A>T | |
2 | g.215011517T>C | CA350483556 | ABCA12 | c.2254A>G (p.Asn752Asp) c.1300A>G (p.Asn434Asp) n.2498A>G n.2696A>G | |
2 | g.215011517T>G | CA350483557 | ABCA12 | c.2254A>C (p.Asn752His) c.1300A>C (p.Asn434His) n.2498A>C n.2696A>C | |
2 | g.215011518G>A | CA431151450 | ABCA12 | c.2253C>T (p.Gly751=) c.1299C>T (p.Gly433=) n.2497C>T n.2695C>T | |
2 | g.215011518G>C | CA431151451 | ABCA12 | c.2253C>G (p.Gly751=) c.1299C>G (p.Gly433=) n.2497C>G n.2695C>G | |
2 | g.215011518G>T | CA431151452 | ABCA12 | c.2253C>A (p.Gly751=) c.1299C>A (p.Gly433=) n.2497C>A n.2695C>A | |
2 | g.215011519C>A | CA350483560 | ABCA12 | c.2252G>T (p.Gly751Val) c.1298G>T (p.Gly433Val) n.2496G>T n.2694G>T | |
2 | g.215011519C= | CA1327174127 | ABCA12 | c.2252G= (p.Gly751=) c.1298G= (p.Gly433=) n.2496G= n.2694G= | |
2 | g.215011519C>G | CA350483558 | ABCA12 | c.2252G>C (p.Gly751Ala) c.1298G>C (p.Gly433Ala) n.2496G>C n.2694G>C | |
2 | g.215011519C>T | CA350483559 | ABCA12 | c.2252G>A (p.Gly751Asp) c.1298G>A (p.Gly433Asp) n.2496G>A n.2694G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011519_215011520delinsA | CA2586971327 | ABCA12 | c.2251_2252delinsT (p.Gly751SerfsTer8) c.1297_1298delinsT (p.Gly433SerfsTer8) n.2495_2496delinsT n.2693_2694delinsT | |
2 | g.215011520del | CA2662980329 | ABCA12 | c.2252del (p.Gly751AlafsTer8) c.1298del (p.Gly433AlafsTer8) n.2496del n.2694del | gnomAD v4 |
2 | g.215011520C>A | CA350483561 | ABCA12 | c.2251G>T (p.Gly751Cys) c.1297G>T (p.Gly433Cys) n.2495G>T n.2693G>T | gnomAD v4 |
2 | g.215011520C>G | CA350483562 | ABCA12 | c.2251G>C (p.Gly751Arg) c.1297G>C (p.Gly433Arg) n.2495G>C n.2693G>C | |
2 | g.215011520C>T | CA350483563 | ABCA12 | c.2251G>A (p.Gly751Ser) c.1297G>A (p.Gly433Ser) n.2495G>A n.2693G>A | |
2 | g.215011521T>A | CA350483564 | ABCA12 | c.2250A>T (p.Lys750Asn) c.1296A>T (p.Lys432Asn) n.2494A>T n.2692A>T | |
2 | g.215011521T>C | CA431151453 | ABCA12 | c.2250A>G (p.Lys750=) c.1296A>G (p.Lys432=) n.2494A>G n.2692A>G | |
2 | g.215011521T>G | CA350483565 | ABCA12 | c.2250A>C (p.Lys750Asn) c.1296A>C (p.Lys432Asn) n.2494A>C n.2692A>C | |
2 | g.215011522T>A | CA350483566 | ABCA12 | c.2249A>T (p.Lys750Ile) c.1295A>T (p.Lys432Ile) n.2493A>T n.2691A>T | |
2 | g.215011522T>C | CA350483567 | ABCA12 | c.2249A>G (p.Lys750Arg) c.1295A>G (p.Lys432Arg) n.2493A>G n.2691A>G | |
2 | g.215011522T>G | CA350483568 | ABCA12 | c.2249A>C (p.Lys750Thr) c.1295A>C (p.Lys432Thr) n.2493A>C n.2691A>C | |
2 | g.215011523T>A | CA350483569 | ABCA12 | c.2248A>T (p.Lys750Ter) c.1294A>T (p.Lys432Ter) n.2492A>T n.2690A>T | |
2 | g.215011523T>C | CA350483570 | ABCA12 | c.2248A>G (p.Lys750Glu) c.1294A>G (p.Lys432Glu) n.2492A>G n.2690A>G | dbSNP |
2 | g.215011523T>G | CA350483571 | ABCA12 | c.2248A>C (p.Lys750Gln) c.1294A>C (p.Lys432Gln) n.2492A>C n.2690A>C | |
2 | g.215011523T= | CA1327174128 | ABCA12 | c.2248A= (p.Lys750=) c.1294A= (p.Lys432=) n.2492A= n.2690A= | |
2 | g.215011524T>A | CA431151454 | ABCA12 | c.2247A>T (p.Pro749=) c.1293A>T (p.Pro431=) n.2491A>T n.2689A>T | |
2 | g.215011524T>C | CA431151455 | ABCA12 | c.2247A>G (p.Pro749=) c.1293A>G (p.Pro431=) n.2491A>G n.2689A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011524T>G | CA431151456 | ABCA12 | c.2247A>C (p.Pro749=) c.1293A>C (p.Pro431=) n.2491A>C n.2689A>C | |
2 | g.215011524T= | CA1327174129 | ABCA12 | c.2247A= (p.Pro749=) c.1293A= (p.Pro431=) n.2491A= n.2689A= | |
2 | g.215011525G>A | CA350483573 | ABCA12 | c.2246C>T (p.Pro749Leu) c.1292C>T (p.Pro431Leu) n.2490C>T n.2688C>T | |
2 | g.215011525G>C | CA350483574 | ABCA12 | c.2246C>G (p.Pro749Arg) c.1292C>G (p.Pro431Arg) n.2490C>G n.2688C>G | |
2 | g.215011525G>T | CA350483572 | ABCA12 | c.2246C>A (p.Pro749Gln) c.1292C>A (p.Pro431Gln) n.2490C>A n.2688C>A | |
2 | g.215011526G>A | CA350483577 | ABCA12 | c.2245C>T (p.Pro749Ser) c.1291C>T (p.Pro431Ser) n.2489C>T n.2687C>T | gnomAD v4 COSMIC COSMIC |
2 | g.215011526G>C | CA350483575 | ABCA12 | c.2245C>G (p.Pro749Ala) c.1291C>G (p.Pro431Ala) n.2489C>G n.2687C>G | |
2 | g.215011526G>T | CA350483576 | ABCA12 | c.2245C>A (p.Pro749Thr) c.1291C>A (p.Pro431Thr) n.2489C>A n.2687C>A | |
2 | g.215011527C>A | CA350483578 | ABCA12 | c.2244G>T (p.Arg748Ser) c.1290G>T (p.Arg430Ser) n.2488G>T n.2686G>T | |
2 | g.215011527C>G | CA350483579 | ABCA12 | c.2244G>C (p.Arg748Ser) c.1290G>C (p.Arg430Ser) n.2488G>C n.2686G>C | |
2 | g.215011527C>T | CA431151457 | ABCA12 | c.2244G>A (p.Arg748=) c.1290G>A (p.Arg430=) n.2488G>A n.2686G>A | |
2 | g.215011528C>A | CA350483580 | ABCA12 | c.2243G>T (p.Arg748Met) c.1289G>T (p.Arg430Met) n.2487G>T n.2685G>T | dbSNP |
2 | g.215011528C= | CA1327174130 | ABCA12 | c.2243G= (p.Arg748=) c.1289G= (p.Arg430=) n.2487G= n.2685G= | |
2 | g.215011528C>G | CA350483581 | ABCA12 | c.2243G>C (p.Arg748Thr) c.1289G>C (p.Arg430Thr) n.2487G>C n.2685G>C | |
2 | g.215011528C>T | CA2092004 | ABCA12 | c.2243G>A (p.Arg748Lys) c.1289G>A (p.Arg430Lys) n.2487G>A n.2685G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011529T>A | CA350483582 | ABCA12 | c.2242A>T (p.Arg748Trp) c.1288A>T (p.Arg430Trp) n.2486A>T n.2684A>T | |
2 | g.215011529T>C | CA350483583 | ABCA12 | c.2242A>G (p.Arg748Gly) c.1288A>G (p.Arg430Gly) n.2486A>G n.2684A>G | |
2 | g.215011529T>G | CA431151458 | ABCA12 | c.2242A>C (p.Arg748=) c.1288A>C (p.Arg430=) n.2486A>C n.2684A>C | |
2 | g.215011530C>A | CA350483584 | ABCA12 | c.2241G>T (p.Gln747His) c.1287G>T (p.Gln429His) n.2485G>T n.2683G>T | |
2 | g.215011530C>G | CA350483585 | ABCA12 | c.2241G>C (p.Gln747His) c.1287G>C (p.Gln429His) n.2485G>C n.2683G>C | gnomAD v4 |
2 | g.215011530C>T | CA431151459 | ABCA12 | c.2241G>A (p.Gln747=) c.1287G>A (p.Gln429=) n.2485G>A n.2683G>A | |
2 | g.215011531T>A | CA350483586 | ABCA12 | c.2240A>T (p.Gln747Leu) c.1286A>T (p.Gln429Leu) n.2484A>T n.2682A>T | |
2 | g.215011531T>C | CA350483587 | ABCA12 | c.2240A>G (p.Gln747Arg) c.1286A>G (p.Gln429Arg) n.2484A>G n.2682A>G | |
2 | g.215011531T>G | CA350483588 | ABCA12 | c.2240A>C (p.Gln747Pro) c.1286A>C (p.Gln429Pro) n.2484A>C n.2682A>C | |
2 | g.215011532G>A | CA350483589 | ABCA12 | c.2239C>T (p.Gln747Ter) c.1285C>T (p.Gln429Ter) n.2483C>T n.2681C>T | |
2 | g.215011532G>C | CA350483591 | ABCA12 | c.2239C>G (p.Gln747Glu) c.1285C>G (p.Gln429Glu) n.2483C>G n.2681C>G | |
2 | g.215011532G>T | CA350483590 | ABCA12 | c.2239C>A (p.Gln747Lys) c.1285C>A (p.Gln429Lys) n.2483C>A n.2681C>A | |
2 | g.215011533G>A | CA431151460 | ABCA12 | c.2238C>T (p.Ser746=) c.1284C>T (p.Ser428=) n.2482C>T n.2680C>T | |
2 | g.215011533G>C | CA431151461 | ABCA12 | c.2238C>G (p.Ser746=) c.1284C>G (p.Ser428=) n.2482C>G n.2680C>G | |
2 | g.215011533G>T | CA431151462 | ABCA12 | c.2238C>A (p.Ser746=) c.1284C>A (p.Ser428=) n.2482C>A n.2680C>A | |
2 | g.215011534G>A | CA350483592 | ABCA12 | c.2237C>T (p.Ser746Phe) c.1283C>T (p.Ser428Phe) n.2481C>T n.2679C>T | |
2 | g.215011534G>C | CA350483593 | ABCA12 | c.2237C>G (p.Ser746Cys) c.1283C>G (p.Ser428Cys) n.2481C>G n.2679C>G | |
2 | g.215011534G>T | CA350483595 | ABCA12 | c.2237C>A (p.Ser746Tyr) c.1283C>A (p.Ser428Tyr) n.2481C>A n.2679C>A | |
2 | g.215011534_215011535delinsGA | CA1327174131 | ABCA12 | c.2236_2237delinsTC (p.Ser746=) c.1282_1283delinsTC (p.Ser428=) n.2480_2481delinsTC n.2678_2679delinsTC | |
2 | g.215011535A>C | CA350483596 | ABCA12 | c.2236T>G (p.Ser746Ala) c.1282T>G (p.Ser428Ala) n.2480T>G n.2678T>G | |
2 | g.215011535A>G | CA350483597 | ABCA12 | c.2236T>C (p.Ser746Pro) c.1282T>C (p.Ser428Pro) n.2480T>C n.2678T>C | |
2 | g.215011535A>T | CA350483598 | ABCA12 | c.2236T>A (p.Ser746Thr) c.1282T>A (p.Ser428Thr) n.2480T>A n.2678T>A | |
2 | g.215011536del | CA2092005 | ABCA12 | c.2236del (p.Ser746ProfsTer13) c.1282del (p.Ser428ProfsTer13) n.2480del n.2678del | dbSNP ExAC gnomAD v2 |
2 | g.215011536A= | CA1327174132 | ABCA12 | c.2235T= (p.Ser745=) c.1281T= (p.Ser427=) n.2479T= n.2677T= | |
2 | g.215011536A>C | CA431151463 | ABCA12 | c.2235T>G (p.Ser745=) c.1281T>G (p.Ser427=) n.2479T>G n.2677T>G | |
2 | g.215011536A>G | CA431151465 | ABCA12 | c.2235T>C (p.Ser745=) c.1281T>C (p.Ser427=) n.2479T>C n.2677T>C | dbSNP gnomAD v2 |
2 | g.215011536A>T | CA431151464 | ABCA12 | c.2235T>A (p.Ser745=) c.1281T>A (p.Ser427=) n.2479T>A n.2677T>A | |
2 | g.215011537G>A | CA350483599 | ABCA12 | c.2234C>T (p.Ser745Phe) c.1280C>T (p.Ser427Phe) n.2478C>T n.2676C>T | |
2 | g.215011537G>C | CA350483600 | ABCA12 | c.2234C>G (p.Ser745Cys) c.1280C>G (p.Ser427Cys) n.2478C>G n.2676C>G | |
2 | g.215011537G>T | CA350483601 | ABCA12 | c.2234C>A (p.Ser745Tyr) c.1280C>A (p.Ser427Tyr) n.2478C>A n.2676C>A | |
2 | g.215011538A>C | CA350483604 | ABCA12 | c.2233T>G (p.Ser745Ala) c.1279T>G (p.Ser427Ala) n.2477T>G n.2675T>G | |
2 | g.215011538A>G | CA350483603 | ABCA12 | c.2233T>C (p.Ser745Pro) c.1279T>C (p.Ser427Pro) n.2477T>C n.2675T>C | |
2 | g.215011538A>T | CA350483602 | ABCA12 | c.2233T>A (p.Ser745Thr) c.1279T>A (p.Ser427Thr) n.2477T>A n.2675T>A | |
2 | g.215011539G>A | CA431151466 | ABCA12 | c.2232C>T (p.Pro744=) c.1278C>T (p.Pro426=) n.2476C>T n.2674C>T | gnomAD v4 |
2 | g.215011539G>C | CA431151467 | ABCA12 | c.2232C>G (p.Pro744=) c.1278C>G (p.Pro426=) n.2476C>G n.2674C>G | |
2 | g.215011539G>T | CA431151468 | ABCA12 | c.2232C>A (p.Pro744=) c.1278C>A (p.Pro426=) n.2476C>A n.2674C>A | |
2 | g.215011540G>A | CA350483605 | ABCA12 | c.2231C>T (p.Pro744Leu) c.1277C>T (p.Pro426Leu) n.2475C>T n.2673C>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011540G>C | CA350483606 | ABCA12 | c.2231C>G (p.Pro744Arg) c.1277C>G (p.Pro426Arg) n.2475C>G n.2673C>G | |
2 | g.215011540G= | CA1327174133 | ABCA12 | c.2231C= (p.Pro744=) c.1277C= (p.Pro426=) n.2475C= n.2673C= | |
2 | g.215011540G>T | CA350483607 | ABCA12 | c.2231C>A (p.Pro744His) c.1277C>A (p.Pro426His) n.2475C>A n.2673C>A | |
2 | g.215011545_215011552del | CA645516078 | ABCA12 | c.2224_2231del (p.Met742LeufsTer17) c.1270_1277del (p.Met424LeufsTer17) n.2468_2475del n.2666_2673del | COSMIC COSMIC |
2 | g.215011541G>A | CA2092006 | ABCA12 | c.2230C>T (p.Pro744Ser) c.1276C>T (p.Pro426Ser) n.2474C>T n.2672C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011541G>C | CA350483608 | ABCA12 | c.2230C>G (p.Pro744Ala) c.1276C>G (p.Pro426Ala) n.2474C>G n.2672C>G | gnomAD v4 |
2 | g.215011541G= | CA1327174134 | ABCA12 | c.2230C= (p.Pro744=) c.1276C= (p.Pro426=) n.2474C= n.2672C= | |
2 | g.215011541G>T | CA350483609 | ABCA12 | c.2230C>A (p.Pro744Thr) c.1276C>A (p.Pro426Thr) n.2474C>A n.2672C>A | |
2 | g.215011542C>A | CA431151469 | ABCA12 | c.2229G>T (p.Leu743=) c.1275G>T (p.Leu425=) n.2473G>T n.2671G>T | |
2 | g.215011542C>G | CA431151470 | ABCA12 | c.2229G>C (p.Leu743=) c.1275G>C (p.Leu425=) n.2473G>C n.2671G>C | |
2 | g.215011542C>T | CA431151471 | ABCA12 | c.2229G>A (p.Leu743=) c.1275G>A (p.Leu425=) n.2473G>A n.2671G>A | |
2 | g.215011543A>C | CA350483612 | ABCA12 | c.2228T>G (p.Leu743Arg) c.1274T>G (p.Leu425Arg) n.2472T>G n.2670T>G | |
2 | g.215011543A>G | CA350483610 | ABCA12 | c.2228T>C (p.Leu743Pro) c.1274T>C (p.Leu425Pro) n.2472T>C n.2670T>C | gnomAD v4 |
2 | g.215011543A>T | CA350483611 | ABCA12 | c.2228T>A (p.Leu743Gln) c.1274T>A (p.Leu425Gln) n.2472T>A n.2670T>A | |
2 | g.215011544G>A | CA431151472 | ABCA12 | c.2227C>T (p.Leu743=) c.1273C>T (p.Leu425=) n.2471C>T n.2669C>T | |
2 | g.215011544G>C | CA350483613 | ABCA12 | c.2227C>G (p.Leu743Val) c.1273C>G (p.Leu425Val) n.2471C>G n.2669C>G | |
2 | g.215011544G>T | CA350483614 | ABCA12 | c.2227C>A (p.Leu743Met) c.1273C>A (p.Leu425Met) n.2471C>A n.2669C>A | |
2 | g.215011545C>A | CA2092007 | ABCA12 | c.2226G>T (p.Met742Ile) c.1272G>T (p.Met424Ile) n.2470G>T n.2668G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011545C= | CA1327174135 | ABCA12 | c.2226G= (p.Met742=) c.1272G= (p.Met424=) n.2470G= n.2668G= | |
2 | g.215011545C>G | CA350483615 | ABCA12 | c.2226G>C (p.Met742Ile) c.1272G>C (p.Met424Ile) n.2470G>C n.2668G>C | |
2 | g.215011545C>T | CA350483616 | ABCA12 | c.2226G>A (p.Met742Ile) c.1272G>A (p.Met424Ile) n.2470G>A n.2668G>A | COSMIC COSMIC |
2 | g.215011546A= | CA1327174136 | ABCA12 | c.2225T= (p.Met742=) c.1271T= (p.Met424=) n.2469T= n.2667T= | |
2 | g.215011546A>C | CA350483617 | ABCA12 | c.2225T>G (p.Met742Arg) c.1271T>G (p.Met424Arg) n.2469T>G n.2667T>G | dbSNP gnomAD v4 |
2 | g.215011546A>G | CA2092008 | ABCA12 | c.2225T>C (p.Met742Thr) c.1271T>C (p.Met424Thr) n.2469T>C n.2667T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011546A>T | CA350483618 | ABCA12 | c.2225T>A (p.Met742Lys) c.1271T>A (p.Met424Lys) n.2469T>A n.2667T>A | |
2 | g.215011547T>A | CA350483619 | ABCA12 | c.2224A>T (p.Met742Leu) c.1270A>T (p.Met424Leu) n.2468A>T n.2666A>T | |
2 | g.215011547T>C | CA350483620 | ABCA12 | c.2224A>G (p.Met742Val) c.1270A>G (p.Met424Val) n.2468A>G n.2666A>G | |
2 | g.215011547T>G | CA350483621 | ABCA12 | c.2224A>C (p.Met742Leu) c.1270A>C (p.Met424Leu) n.2468A>C n.2666A>C | |
2 | g.215011548G>A | CA431151473 | ABCA12 | c.2223C>T (p.Ala741=) c.1269C>T (p.Ala423=) n.2467C>T n.2665C>T | dbSNP gnomAD v4 |
2 | g.215011548G>C | CA431151474 | ABCA12 | c.2223C>G (p.Ala741=) c.1269C>G (p.Ala423=) n.2467C>G n.2665C>G | |
2 | g.215011548G= | CA1327174137 | ABCA12 | c.2223C= (p.Ala741=) c.1269C= (p.Ala423=) n.2467C= n.2665C= | |
2 | g.215011548G>T | CA431151475 | ABCA12 | c.2223C>A (p.Ala741=) c.1269C>A (p.Ala423=) n.2467C>A n.2665C>A | |
2 | g.215011549G>A | CA350483622 | ABCA12 | c.2222C>T (p.Ala741Val) c.1268C>T (p.Ala423Val) n.2466C>T n.2664C>T | gnomAD v4 COSMIC COSMIC |
2 | g.215011549G>C | CA350483623 | ABCA12 | c.2222C>G (p.Ala741Gly) c.1268C>G (p.Ala423Gly) n.2466C>G n.2664C>G | |
2 | g.215011549G>T | CA350483624 | ABCA12 | c.2222C>A (p.Ala741Asp) c.1268C>A (p.Ala423Asp) n.2466C>A n.2664C>A | |
2 | g.215011550C>A | CA350483625 | ABCA12 | c.2221G>T (p.Ala741Ser) c.1267G>T (p.Ala423Ser) n.2465G>T n.2663G>T | dbSNP |
2 | g.215011550C>G | CA350483626 | ABCA12 | c.2221G>C (p.Ala741Pro) c.1267G>C (p.Ala423Pro) n.2465G>C n.2663G>C | |
2 | g.215011550C>T | CA350483627 | ABCA12 | c.2221G>A (p.Ala741Thr) c.1267G>A (p.Ala423Thr) n.2465G>A n.2663G>A | |
2 | g.215011551A= | CA1327174138 | ABCA12 | c.2220T= (p.Thr740=) c.1266T= (p.Thr422=) n.2464T= n.2662T= | |
2 | g.215011551A>C | CA431151476 | ABCA12 | c.2220T>G (p.Thr740=) c.1266T>G (p.Thr422=) n.2464T>G n.2662T>G | |
2 | g.215011551A>G | CA431151478 | ABCA12 | c.2220T>C (p.Thr740=) c.1266T>C (p.Thr422=) n.2464T>C n.2662T>C | |
2 | g.215011551A>T | CA431151477 | ABCA12 | c.2220T>A (p.Thr740=) c.1266T>A (p.Thr422=) n.2464T>A n.2662T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011552G>A | CA350483628 | ABCA12 | c.2219C>T (p.Thr740Ile) c.1265C>T (p.Thr422Ile) n.2463C>T n.2661C>T | gnomAD v4 |
2 | g.215011552G>C | CA350483629 | ABCA12 | c.2219C>G (p.Thr740Ser) c.1265C>G (p.Thr422Ser) n.2463C>G n.2661C>G | gnomAD v4 |
2 | g.215011552G>T | CA350483630 | ABCA12 | c.2219C>A (p.Thr740Asn) c.1265C>A (p.Thr422Asn) n.2463C>A n.2661C>A | |
2 | g.215011553T>A | CA350483632 | ABCA12 | c.2218A>T (p.Thr740Ser) c.1264A>T (p.Thr422Ser) n.2462A>T n.2660A>T | |
2 | g.215011553T>C | CA350483633 | ABCA12 | c.2218A>G (p.Thr740Ala) c.1264A>G (p.Thr422Ala) n.2462A>G n.2660A>G | |
2 | g.215011553T>G | CA350483631 | ABCA12 | c.2218A>C (p.Thr740Pro) c.1264A>C (p.Thr422Pro) n.2462A>C n.2660A>C | gnomAD v4 |
2 | g.215011554T>A | CA350483635 | ABCA12 | c.2217A>T (p.Leu739Phe) c.1263A>T (p.Leu421Phe) n.2461A>T n.2659A>T | |
2 | g.215011554T>C | CA431151479 | ABCA12 | c.2217A>G (p.Leu739=) c.1263A>G (p.Leu421=) n.2461A>G n.2659A>G | gnomAD v4 |
2 | g.215011554T>G | CA350483634 | ABCA12 | c.2217A>C (p.Leu739Phe) c.1263A>C (p.Leu421Phe) n.2461A>C n.2659A>C | |
2 | g.215011555A>C | CA350483638 | ABCA12 | c.2216T>G (p.Leu739Ter) c.1262T>G (p.Leu421Ter) n.2460T>G n.2658T>G | |
2 | g.215011555A>G | CA350483636 | ABCA12 | c.2216T>C (p.Leu739Ser) c.1262T>C (p.Leu421Ser) n.2460T>C n.2658T>C | |
2 | g.215011555A>T | CA350483637 | ABCA12 | c.2216T>A (p.Leu739Ter) c.1262T>A (p.Leu421Ter) n.2460T>A n.2658T>A | |
2 | g.215011556A>C | CA350483639 | ABCA12 | c.2215T>G (p.Leu739Val) c.1261T>G (p.Leu421Val) n.2459T>G n.2657T>G | |
2 | g.215011556A>G | CA431151480 | ABCA12 | c.2215T>C (p.Leu739=) c.1261T>C (p.Leu421=) n.2459T>C n.2657T>C | |
2 | g.215011556A>T | CA350483640 | ABCA12 | c.2215T>A (p.Leu739Ile) c.1261T>A (p.Leu421Ile) n.2459T>A n.2657T>A | |
2 | g.215011557A>C | CA350483641 | ABCA12 | c.2214T>G (p.Tyr738Ter) c.1260T>G (p.Tyr420Ter) n.2458T>G n.2656T>G | |
2 | g.215011557A>G | CA431151481 | ABCA12 | c.2214T>C (p.Tyr738=) c.1260T>C (p.Tyr420=) n.2458T>C n.2656T>C | |
2 | g.215011557A>T | CA350483642 | ABCA12 | c.2214T>A (p.Tyr738Ter) c.1260T>A (p.Tyr420Ter) n.2458T>A n.2656T>A | |
2 | g.215011558T>A | CA350483645 | ABCA12 | c.2213A>T (p.Tyr738Phe) c.1259A>T (p.Tyr420Phe) n.2457A>T n.2655A>T | |
2 | g.215011558T>C | CA350483643 | ABCA12 | c.2213A>G (p.Tyr738Cys) c.1259A>G (p.Tyr420Cys) n.2457A>G n.2655A>G | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011558T>G | CA350483644 | ABCA12 | c.2213A>C (p.Tyr738Ser) c.1259A>C (p.Tyr420Ser) n.2457A>C n.2655A>C | |
2 | g.215011558T= | CA1327174139 | ABCA12 | c.2213A= (p.Tyr738=) c.1259A= (p.Tyr420=) n.2457A= n.2655A= | |
2 | g.215011559A= | CA1327174140 | ABCA12 | c.2212T= (p.Tyr738=) c.1258T= (p.Tyr420=) n.2456T= n.2654T= | |
2 | g.215011559A>C | CA350483646 | ABCA12 | c.2212T>G (p.Tyr738Asp) c.1258T>G (p.Tyr420Asp) n.2456T>G n.2654T>G | dbSNP gnomAD v2 |
2 | g.215011559A>G | CA350483647 | ABCA12 | c.2212T>C (p.Tyr738His) c.1258T>C (p.Tyr420His) n.2456T>C n.2654T>C | gnomAD v4 |
2 | g.215011559A>T | CA350483648 | ABCA12 | c.2212T>A (p.Tyr738Asn) c.1258T>A (p.Tyr420Asn) n.2456T>A n.2654T>A | |
2 | g.215011560T>A | CA350483649 | ABCA12 | c.2211A>T (p.Glu737Asp) c.1257A>T (p.Glu419Asp) n.2455A>T n.2653A>T | |
2 | g.215011560T>C | CA431151482 | ABCA12 | c.2211A>G (p.Glu737=) c.1257A>G (p.Glu419=) n.2455A>G n.2653A>G | gnomAD v4 |
2 | g.215011560T>G | CA350483650 | ABCA12 | c.2211A>C (p.Glu737Asp) c.1257A>C (p.Glu419Asp) n.2455A>C n.2653A>C | |
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 |