Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011460A>C | CA350483426 | ABCA12 | c.2311T>G (p.Tyr771Asp) c.1357T>G (p.Tyr453Asp) n.2555T>G n.2753T>G | |
2 | g.215011460A>G | CA350483427 | ABCA12 | c.2311T>C (p.Tyr771His) c.1357T>C (p.Tyr453His) n.2555T>C n.2753T>C | |
2 | g.215011460A>T | CA350483428 | ABCA12 | c.2311T>A (p.Tyr771Asn) c.1357T>A (p.Tyr453Asn) n.2555T>A n.2753T>A | |
2 | g.215011461T>A | CA350483429 | ABCA12 | c.2310A>T (p.Lys770Asn) c.1356A>T (p.Lys452Asn) n.2554A>T n.2752A>T | |
2 | g.215011461T>C | CA431151422 | ABCA12 | c.2310A>G (p.Lys770=) c.1356A>G (p.Lys452=) n.2554A>G n.2752A>G | |
2 | g.215011461T>G | CA350483430 | ABCA12 | c.2310A>C (p.Lys770Asn) c.1356A>C (p.Lys452Asn) n.2554A>C n.2752A>C | |
2 | g.215011462T>A | CA350483431 | ABCA12 | c.2309A>T (p.Lys770Ile) c.1355A>T (p.Lys452Ile) n.2553A>T n.2751A>T | |
2 | g.215011462T>C | CA350483432 | ABCA12 | c.2309A>G (p.Lys770Arg) c.1355A>G (p.Lys452Arg) n.2553A>G n.2751A>G | |
2 | g.215011462T>G | CA350483433 | ABCA12 | c.2309A>C (p.Lys770Thr) c.1355A>C (p.Lys452Thr) n.2553A>C n.2751A>C | |
2 | g.215011463T>A | CA350483436 | ABCA12 | c.2308A>T (p.Lys770Ter) c.1354A>T (p.Lys452Ter) n.2552A>T n.2750A>T | |
2 | g.215011463T>C | CA350483435 | ABCA12 | c.2308A>G (p.Lys770Glu) c.1354A>G (p.Lys452Glu) n.2552A>G n.2750A>G | |
2 | g.215011463T>G | CA350483434 | ABCA12 | c.2308A>C (p.Lys770Gln) c.1354A>C (p.Lys452Gln) n.2552A>C n.2750A>C | |
2 | g.215011464T>A | CA431151424 | ABCA12 | c.2307A>T (p.Ser769=) c.1353A>T (p.Ser451=) n.2551A>T n.2749A>T | |
2 | g.215011464T>C | CA431151425 | ABCA12 | c.2307A>G (p.Ser769=) c.1353A>G (p.Ser451=) n.2551A>G n.2749A>G | |
2 | g.215011464T>G | CA431151426 | ABCA12 | c.2307A>C (p.Ser769=) c.1353A>C (p.Ser451=) n.2551A>C n.2749A>C | |
2 | g.215011465G>A | CA350483437 | ABCA12 | c.2306C>T (p.Ser769Leu) c.1352C>T (p.Ser451Leu) n.2550C>T n.2748C>T | gnomAD v4 COSMIC COSMIC |
2 | g.215011465G>C | CA350483438 | ABCA12 | c.2306C>G (p.Ser769Ter) c.1352C>G (p.Ser451Ter) n.2550C>G n.2748C>G | |
2 | g.215011465G>T | CA350483439 | ABCA12 | c.2306C>A (p.Ser769Ter) c.1352C>A (p.Ser451Ter) n.2550C>A n.2748C>A | gnomAD v4 |
2 | g.215011466A>C | CA350483440 | ABCA12 | c.2305T>G (p.Ser769Ala) c.1351T>G (p.Ser451Ala) n.2549T>G n.2747T>G | |
2 | g.215011466A>G | CA350483441 | ABCA12 | c.2305T>C (p.Ser769Pro) c.1351T>C (p.Ser451Pro) n.2549T>C n.2747T>C | |
2 | g.215011466A>T | CA350483442 | ABCA12 | c.2305T>A (p.Ser769Thr) c.1351T>A (p.Ser451Thr) n.2549T>A n.2747T>A | |
2 | g.215011467A= | CA1327174104 | ABCA12 | c.2304T= (p.Ala768=) c.1350T= (p.Ala450=) n.2548T= n.2746T= | |
2 | g.215011467A>C | CA431151427 | ABCA12 | c.2304T>G (p.Ala768=) c.1350T>G (p.Ala450=) n.2548T>G n.2746T>G | gnomAD v4 |
2 | g.215011467A>G | CA2091994 | ABCA12 | c.2304T>C (p.Ala768=) c.1350T>C (p.Ala450=) n.2548T>C n.2746T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011467A>T | CA431151428 | ABCA12 | c.2304T>A (p.Ala768=) c.1350T>A (p.Ala450=) n.2548T>A n.2746T>A | |
2 | g.215011468G>A | CA350483443 | ABCA12 | c.2303C>T (p.Ala768Val) c.1349C>T (p.Ala450Val) n.2547C>T n.2745C>T | |
2 | g.215011468G>C | CA350483444 | ABCA12 | c.2303C>G (p.Ala768Gly) c.1349C>G (p.Ala450Gly) n.2547C>G n.2745C>G | |
2 | g.215011468G>T | CA350483445 | ABCA12 | c.2303C>A (p.Ala768Asp) c.1349C>A (p.Ala450Asp) n.2547C>A n.2745C>A | |
2 | g.215011469C>A | CA350483446 | ABCA12 | c.2302G>T (p.Ala768Ser) c.1348G>T (p.Ala450Ser) n.2546G>T n.2744G>T | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011469C= | CA1327174105 | ABCA12 | c.2302G= (p.Ala768=) c.1348G= (p.Ala450=) n.2546G= n.2744G= | |
2 | g.215011469C>G | CA350483447 | ABCA12 | c.2302G>C (p.Ala768Pro) c.1348G>C (p.Ala450Pro) n.2546G>C n.2744G>C | |
2 | g.215011469C>T | CA2091995 | ABCA12 | c.2302G>A (p.Ala768Thr) c.1348G>A (p.Ala450Thr) n.2546G>A n.2744G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011470A= | CA1327174106 | ABCA12 | c.2301T= (p.Ile767=) c.1347T= (p.Ile449=) n.2545T= n.2743T= | |
2 | g.215011470A>C | CA350483448 | ABCA12 | c.2301T>G (p.Ile767Met) c.1347T>G (p.Ile449Met) n.2545T>G n.2743T>G | |
2 | g.215011470A>G | CA431151429 | ABCA12 | c.2301T>C (p.Ile767=) c.1347T>C (p.Ile449=) n.2545T>C n.2743T>C | dbSNP |
2 | g.215011470A>T | CA431151430 | ABCA12 | c.2301T>A (p.Ile767=) c.1347T>A (p.Ile449=) n.2545T>A n.2743T>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011471A= | CA1327174107 | ABCA12 | c.2300T= (p.Ile767=) c.1346T= (p.Ile449=) n.2544T= n.2742T= | |
2 | g.215011471A>C | CA350483449 | ABCA12 | c.2300T>G (p.Ile767Ser) c.1346T>G (p.Ile449Ser) n.2544T>G n.2742T>G | |
2 | g.215011471A>G | CA350483450 | ABCA12 | c.2300T>C (p.Ile767Thr) c.1346T>C (p.Ile449Thr) n.2544T>C n.2742T>C | gnomAD v4 |
2 | g.215011471A>T | CA64844252 | ABCA12 | c.2300T>A (p.Ile767Asn) c.1346T>A (p.Ile449Asn) n.2544T>A n.2742T>A | dbSNP |
2 | g.215011472T>A | CA350483451 | ABCA12 | c.2299A>T (p.Ile767Phe) c.1345A>T (p.Ile449Phe) n.2543A>T n.2741A>T | |
2 | g.215011472T>C | CA350483452 | ABCA12 | c.2299A>G (p.Ile767Val) c.1345A>G (p.Ile449Val) n.2543A>G n.2741A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011472T>G | CA350483453 | ABCA12 | c.2299A>C (p.Ile767Leu) c.1345A>C (p.Ile449Leu) n.2543A>C n.2741A>C | |
2 | g.215011472T= | CA1327174108 | ABCA12 | c.2299A= (p.Ile767=) c.1345A= (p.Ile449=) n.2543A= n.2741A= | |
2 | g.215011473T>A | CA350483454 | ABCA12 | c.2298A>T (p.Gln766His) c.1344A>T (p.Gln448His) n.2542A>T n.2740A>T | |
2 | g.215011473T>C | CA64844262 | ABCA12 | c.2298A>G (p.Gln766=) c.1344A>G (p.Gln448=) n.2542A>G n.2740A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011473T>G | CA350483455 | ABCA12 | c.2298A>C (p.Gln766His) c.1344A>C (p.Gln448His) n.2542A>C n.2740A>C | |
2 | g.215011473T= | CA1327174109 | ABCA12 | c.2298A= (p.Gln766=) c.1344A= (p.Gln448=) n.2542A= n.2740A= | |
2 | g.215011474T>A | CA350483456 | ABCA12 | c.2297A>T (p.Gln766Leu) c.1343A>T (p.Gln448Leu) n.2541A>T n.2739A>T | |
2 | g.215011474T>C | CA350483457 | ABCA12 | c.2297A>G (p.Gln766Arg) c.1343A>G (p.Gln448Arg) n.2541A>G n.2739A>G | gnomAD v4 |