Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 |
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 |