Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011442A= | CA1327174101 | ABCA12 | c.2329T= (p.Ser777=) c.1375T= (p.Ser459=) n.2573T= n.2771T= | |
2 | g.215011442A>C | CA350483385 | ABCA12 | c.2329T>G (p.Ser777Ala) c.1375T>G (p.Ser459Ala) n.2573T>G n.2771T>G | dbSNP |
2 | g.215011442A>G | CA350483386 | ABCA12 | c.2329T>C (p.Ser777Pro) c.1375T>C (p.Ser459Pro) n.2573T>C n.2771T>C | dbSNP gnomAD v4 |
2 | g.215011442A>T | CA2091993 | ABCA12 | c.2329T>A (p.Ser777Thr) c.1375T>A (p.Ser459Thr) n.2573T>A n.2771T>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011443A>C | CA350483387 | ABCA12 | c.2328T>G (p.Asn776Lys) c.1374T>G (p.Asn458Lys) n.2572T>G n.2770T>G | |
2 | g.215011443A>G | CA431151410 | ABCA12 | c.2328T>C (p.Asn776=) c.1374T>C (p.Asn458=) n.2572T>C n.2770T>C | gnomAD v4 |
2 | g.215011443A>T | CA350483388 | ABCA12 | c.2328T>A (p.Asn776Lys) c.1374T>A (p.Asn458Lys) n.2572T>A n.2770T>A | |
2 | g.215011444T>A | CA350483389 | ABCA12 | c.2327A>T (p.Asn776Ile) c.1373A>T (p.Asn458Ile) n.2571A>T n.2769A>T | |
2 | g.215011444T>C | CA350483390 | ABCA12 | c.2327A>G (p.Asn776Ser) c.1373A>G (p.Asn458Ser) n.2571A>G n.2769A>G | |
2 | g.215011444T>G | CA350483391 | ABCA12 | c.2327A>C (p.Asn776Thr) c.1373A>C (p.Asn458Thr) n.2571A>C n.2769A>C | |
2 | g.215011445T>A | CA350483392 | ABCA12 | c.2326A>T (p.Asn776Tyr) c.1372A>T (p.Asn458Tyr) n.2570A>T n.2768A>T | |
2 | g.215011445T>C | CA350483393 | ABCA12 | c.2326A>G (p.Asn776Asp) c.1372A>G (p.Asn458Asp) n.2570A>G n.2768A>G | |
2 | g.215011445T>G | CA350483394 | ABCA12 | c.2326A>C (p.Asn776His) c.1372A>C (p.Asn458His) n.2570A>C n.2768A>C | |
2 | g.215011446T>A | CA431151411 | ABCA12 | c.2325A>T (p.Ile775=) c.1371A>T (p.Ile457=) n.2569A>T n.2767A>T | |
2 | g.215011446T>C | CA350483395 | ABCA12 | c.2325A>G (p.Ile775Met) c.1371A>G (p.Ile457Met) n.2569A>G n.2767A>G | |
2 | g.215011446T>G | CA431151412 | ABCA12 | c.2325A>C (p.Ile775=) c.1371A>C (p.Ile457=) n.2569A>C n.2767A>C | |
2 | g.215011447A>C | CA350483396 | ABCA12 | c.2324T>G (p.Ile775Arg) c.1370T>G (p.Ile457Arg) n.2568T>G n.2766T>G | |
2 | g.215011447A>G | CA350483398 | ABCA12 | c.2324T>C (p.Ile775Thr) c.1370T>C (p.Ile457Thr) n.2568T>C n.2766T>C | |
2 | g.215011447A>T | CA350483397 | ABCA12 | c.2324T>A (p.Ile775Lys) c.1370T>A (p.Ile457Lys) n.2568T>A n.2766T>A | |
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 |