Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011448T>A | CA350483399 | ABCA12 | c.2323A>T (p.Ile775Leu) c.1369A>T (p.Ile457Leu) n.2567A>T n.2765A>T | |
2 | g.215011448T>C | CA350483401 | ABCA12 | c.2323A>G (p.Ile775Val) c.1369A>G (p.Ile457Val) n.2567A>G n.2765A>G | gnomAD v4 |
2 | g.215011448T>G | CA350483400 | ABCA12 | c.2323A>C (p.Ile775Leu) c.1369A>C (p.Ile457Leu) n.2567A>C n.2765A>C | |
2 | g.215011449G>A | CA431151413 | ABCA12 | c.2322C>T (p.Pro774=) c.1368C>T (p.Pro456=) n.2566C>T n.2764C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011449G>C | CA431151414 | ABCA12 | c.2322C>G (p.Pro774=) c.1368C>G (p.Pro456=) n.2566C>G n.2764C>G | |
2 | g.215011449G= | CA1327174102 | ABCA12 | c.2322C= (p.Pro774=) c.1368C= (p.Pro456=) n.2566C= n.2764C= | |
2 | g.215011449G>T | CA431151415 | ABCA12 | c.2322C>A (p.Pro774=) c.1368C>A (p.Pro456=) n.2566C>A n.2764C>A | gnomAD v4 |
2 | g.215011451del | CA2662980287 | ABCA12 | c.2322del (p.Ile775Ter) c.1368del (p.Ile457Ter) n.2566del n.2764del | gnomAD v4 |
2 | g.215011450G>A | CA350483402 | ABCA12 | c.2321C>T (p.Pro774Leu) c.1367C>T (p.Pro456Leu) n.2565C>T n.2763C>T | gnomAD v4 |
2 | g.215011450G>C | CA350483404 | ABCA12 | c.2321C>G (p.Pro774Arg) c.1367C>G (p.Pro456Arg) n.2565C>G n.2763C>G | |
2 | g.215011450G>T | CA350483403 | ABCA12 | c.2321C>A (p.Pro774His) c.1367C>A (p.Pro456His) n.2565C>A n.2763C>A | |
2 | g.215011451G>A | CA350483405 | ABCA12 | c.2320C>T (p.Pro774Ser) c.1366C>T (p.Pro456Ser) n.2564C>T n.2762C>T | |
2 | g.215011451G>C | CA350483407 | ABCA12 | c.2320C>G (p.Pro774Ala) c.1366C>G (p.Pro456Ala) n.2564C>G n.2762C>G | |
2 | g.215011451G>T | CA350483406 | ABCA12 | c.2320C>A (p.Pro774Thr) c.1366C>A (p.Pro456Thr) n.2564C>A n.2762C>A | |
2 | g.215011452A>C | CA350483408 | ABCA12 | c.2319T>G (p.Ile773Met) c.1365T>G (p.Ile455Met) n.2563T>G n.2761T>G | |
2 | g.215011452A>G | CA431151416 | ABCA12 | c.2319T>C (p.Ile773=) c.1365T>C (p.Ile455=) n.2563T>C n.2761T>C | |
2 | g.215011452A>T | CA431151417 | ABCA12 | c.2319T>A (p.Ile773=) c.1365T>A (p.Ile455=) n.2563T>A n.2761T>A | |
2 | g.215011453A>C | CA350483411 | ABCA12 | c.2318T>G (p.Ile773Ser) c.1364T>G (p.Ile455Ser) n.2562T>G n.2760T>G | |
2 | g.215011453A>G | CA350483409 | ABCA12 | c.2318T>C (p.Ile773Thr) c.1364T>C (p.Ile455Thr) n.2562T>C n.2760T>C | |
2 | g.215011453A>T | CA350483410 | ABCA12 | c.2318T>A (p.Ile773Asn) c.1364T>A (p.Ile455Asn) n.2562T>A n.2760T>A | |
2 | g.215011454T>A | CA350483412 | ABCA12 | c.2317A>T (p.Ile773Phe) c.1363A>T (p.Ile455Phe) n.2561A>T n.2759A>T | |
2 | g.215011454T>C | CA350483413 | ABCA12 | c.2317A>G (p.Ile773Val) c.1363A>G (p.Ile455Val) n.2561A>G n.2759A>G | |
2 | g.215011454T>G | CA350483414 | ABCA12 | c.2317A>C (p.Ile773Leu) c.1363A>C (p.Ile455Leu) n.2561A>C n.2759A>C | |
2 | g.215011455T>A | CA431151418 | ABCA12 | c.2316A>T (p.Gly772=) c.1362A>T (p.Gly454=) n.2560A>T n.2758A>T | |
2 | g.215011455T>C | CA431151420 | ABCA12 | c.2316A>G (p.Gly772=) c.1362A>G (p.Gly454=) n.2560A>G n.2758A>G | |
2 | g.215011455T>G | CA431151419 | ABCA12 | c.2316A>C (p.Gly772=) c.1362A>C (p.Gly454=) n.2560A>C n.2758A>C | |
2 | g.215011456C>A | CA350483415 | ABCA12 | c.2315G>T (p.Gly772Val) c.1361G>T (p.Gly454Val) n.2559G>T n.2757G>T | |
2 | g.215011456C>G | CA350483416 | ABCA12 | c.2315G>C (p.Gly772Ala) c.1361G>C (p.Gly454Ala) n.2559G>C n.2757G>C | |
2 | g.215011456C>T | CA350483417 | ABCA12 | c.2315G>A (p.Gly772Glu) c.1361G>A (p.Gly454Glu) n.2559G>A n.2757G>A | COSMIC COSMIC |
2 | g.215011457C>A | CA350483418 | ABCA12 | c.2314G>T (p.Gly772Ter) c.1360G>T (p.Gly454Ter) n.2558G>T n.2756G>T | |
2 | g.215011457C>G | CA350483419 | ABCA12 | c.2314G>C (p.Gly772Arg) c.1360G>C (p.Gly454Arg) n.2558G>C n.2756G>C | |
2 | g.215011457C>T | CA350483420 | ABCA12 | c.2314G>A (p.Gly772Arg) c.1360G>A (p.Gly454Arg) n.2558G>A n.2756G>A | |
2 | g.215011458A>C | CA350483422 | ABCA12 | c.2313T>G (p.Tyr771Ter) c.1359T>G (p.Tyr453Ter) n.2557T>G n.2755T>G | |
2 | g.215011458A>G | CA431151421 | ABCA12 | c.2313T>C (p.Tyr771=) c.1359T>C (p.Tyr453=) n.2557T>C n.2755T>C | |
2 | g.215011458A>T | CA350483421 | ABCA12 | c.2313T>A (p.Tyr771Ter) c.1359T>A (p.Tyr453Ter) n.2557T>A n.2755T>A | |
2 | g.215011459T>A | CA350483423 | ABCA12 | c.2312A>T (p.Tyr771Phe) c.1358A>T (p.Tyr453Phe) n.2556A>T n.2754A>T | dbSNP gnomAD v4 |
2 | g.215011459T>C | CA350483424 | ABCA12 | c.2312A>G (p.Tyr771Cys) c.1358A>G (p.Tyr453Cys) n.2556A>G n.2754A>G | dbSNP gnomAD v4 |
2 | g.215011459T>G | CA350483425 | ABCA12 | c.2312A>C (p.Tyr771Ser) c.1358A>C (p.Tyr453Ser) n.2556A>C n.2754A>C | |
2 | g.215011459T= | CA1327174103 | ABCA12 | c.2312A= (p.Tyr771=) c.1358A= (p.Tyr453=) n.2556A= n.2754A= | |
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 |