Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.215011415A>T | CA2662980278 | ABCA12 | c.2332+24T>A (n.2332+24T>A) c.1378+24T>A (n.1378+24T>A) n.2576+24T>A n.2774+24T>A | gnomAD v4 |
2 | g.215011416T>A | CA539837704 | ABCA12 | c.2332+23A>T (n.2332+23A>T) c.1378+23A>T (n.1378+23A>T) n.2576+23A>T n.2774+23A>T | dbSNP gnomAD v2 |
2 | g.215011416T>G | CA2577235296 | ABCA12 | c.2332+23A>C (n.2332+23A>C) c.1378+23A>C (n.1378+23A>C) n.2576+23A>C n.2774+23A>C | |
2 | g.215011416T= | CA1327174087 | ABCA12 | c.2332+23A= (n.2332+23A=) c.1378+23A= (n.1378+23A=) n.2576+23A= n.2774+23A= | |
2 | g.215011417G>C | CA2662980279 | ABCA12 | c.2332+22C>G (n.2332+22C>G) c.1378+22C>G (n.1378+22C>G) n.2576+22C>G n.2774+22C>G | gnomAD v4 |
2 | g.215011417G= | CA1327174088 | ABCA12 | c.2332+22C= (n.2332+22C=) c.1378+22C= (n.1378+22C=) n.2576+22C= n.2774+22C= | |
2 | g.215011417G>T | CA764553710 | ABCA12 | c.2332+22C>A (n.2332+22C>A) c.1378+22C>A (n.1378+22C>A) n.2576+22C>A n.2774+22C>A | dbSNP gnomAD v4 |
2 | g.215011418C>A | CA2662980280 | ABCA12 | c.2332+21G>T (n.2332+21G>T) c.1378+21G>T (n.1378+21G>T) n.2576+21G>T n.2774+21G>T | gnomAD v4 |
2 | g.215011418C= | CA1327174089 | ABCA12 | c.2332+21G= (n.2332+21G=) c.1378+21G= (n.1378+21G=) n.2576+21G= n.2774+21G= | |
2 | g.215011418C>T | CA539837705 | ABCA12 | c.2332+21G>A (n.2332+21G>A) c.1378+21G>A (n.1378+21G>A) n.2576+21G>A n.2774+21G>A | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011422T>C | CA2662980281 | ABCA12 | c.2332+17A>G (n.2332+17A>G) c.1378+17A>G (n.1378+17A>G) n.2576+17A>G n.2774+17A>G | gnomAD v4 |
2 | g.215011423T>C | CA539837706 | ABCA12 | c.2332+16A>G (n.2332+16A>G) c.1378+16A>G (n.1378+16A>G) n.2576+16A>G n.2774+16A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011423T= | CA1327174090 | ABCA12 | c.2332+16A= (n.2332+16A=) c.1378+16A= (n.1378+16A=) n.2576+16A= n.2774+16A= | |
2 | g.215011426A= | CA1327174091 | ABCA12 | c.2332+13T= (n.2332+13T=) c.1378+13T= (n.1378+13T=) n.2576+13T= n.2774+13T= | |
2 | g.215011426A>G | CA539837707 | ABCA12 | c.2332+13T>C (n.2332+13T>C) c.1378+13T>C (n.1378+13T>C) n.2576+13T>C n.2774+13T>C | dbSNP gnomAD v2 |
2 | g.215011426A>T | CA2662980282 | ABCA12 | c.2332+13T>A (n.2332+13T>A) c.1378+13T>A (n.1378+13T>A) n.2576+13T>A n.2774+13T>A | gnomAD v4 |
2 | g.215011429G>A | CA1327174093 | ABCA12 | c.2332+10C>T (n.2332+10C>T) c.1378+10C>T (n.1378+10C>T) n.2576+10C>T n.2774+10C>T | dbSNP |
2 | g.215011429G= | CA1327174092 | ABCA12 | c.2332+10C= (n.2332+10C=) c.1378+10C= (n.1378+10C=) n.2576+10C= n.2774+10C= | |
2 | g.215011429G>T | CA2662980283 | ABCA12 | c.2332+10C>A (n.2332+10C>A) c.1378+10C>A (n.1378+10C>A) n.2576+10C>A n.2774+10C>A | gnomAD v4 |
2 | g.215011430T>C | CA1327174095 | ABCA12 | c.2332+9A>G (n.2332+9A>G) c.1378+9A>G (n.1378+9A>G) n.2576+9A>G n.2774+9A>G | dbSNP gnomAD v4 |
2 | g.215011430T= | CA1327174094 | ABCA12 | c.2332+9A= (n.2332+9A=) c.1378+9A= (n.1378+9A=) n.2576+9A= n.2774+9A= | |
2 | g.215011432T>C | CA764553716 | ABCA12 | c.2332+7A>G (n.2332+7A>G) c.1378+7A>G (n.1378+7A>G) n.2576+7A>G n.2774+7A>G | dbSNP |
2 | g.215011432T= | CA1327174096 | ABCA12 | c.2332+7A= (n.2332+7A=) c.1378+7A= (n.1378+7A=) n.2576+7A= n.2774+7A= | |
2 | g.215011435T>A | CA539837708 | ABCA12 | c.2332+4A>T (n.2332+4A>T) c.1378+4A>T (n.1378+4A>T) n.2576+4A>T n.2774+4A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011435T= | CA1327174097 | ABCA12 | c.2332+4A= (n.2332+4A=) c.1378+4A= (n.1378+4A=) n.2576+4A= n.2774+4A= | |
2 | g.215011436C>A | CA539837709 | ABCA12 | c.2332+3G>T (n.2332+3G>T) c.1378+3G>T (n.1378+3G>T) n.2576+3G>T n.2774+3G>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011436C= | CA1327174098 | ABCA12 | c.2332+3G= (n.2332+3G=) c.1378+3G= (n.1378+3G=) n.2576+3G= n.2774+3G= | |
2 | g.215011437A>C | CA350483374 | ABCA12 | c.2332+2T>G (n.2332+2T>G) c.1378+2T>G (n.1378+2T>G) n.2576+2T>G n.2774+2T>G | |
2 | g.215011437A>G | CA350483375 | ABCA12 | c.2332+2T>C (n.2332+2T>C) c.1378+2T>C (n.1378+2T>C) n.2576+2T>C n.2774+2T>C | ClinVar |
2 | g.215011437A>T | CA350483376 | ABCA12 | c.2332+2T>A (n.2332+2T>A) c.1378+2T>A (n.1378+2T>A) n.2576+2T>A n.2774+2T>A | gnomAD v4 |
2 | g.215011438C>A | CA350483377 | ABCA12 | c.2332+1G>T (n.2332+1G>T) c.1378+1G>T (n.1378+1G>T) n.2576+1G>T n.2774+1G>T | |
2 | g.215011438C>G | CA350483378 | ABCA12 | c.2332+1G>C (n.2332+1G>C) c.1378+1G>C (n.1378+1G>C) n.2576+1G>C n.2774+1G>C | |
2 | g.215011438C>T | CA350483379 | ABCA12 | c.2332+1G>A (n.2332+1G>A) c.1378+1G>A (n.1378+1G>A) n.2576+1G>A n.2774+1G>A | |
2 | g.215011439T>A | CA350483380 | ABCA12 | c.2332A>T (p.Thr778Ser) c.1378A>T (p.Thr460Ser) n.2576A>T n.2774A>T | |
2 | g.215011439T>C | CA350483381 | ABCA12 | c.2332A>G (p.Thr778Ala) c.1378A>G (p.Thr460Ala) n.2576A>G n.2774A>G | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011439T>G | CA350483382 | ABCA12 | c.2332A>C (p.Thr778Pro) c.1378A>C (p.Thr460Pro) n.2576A>C n.2774A>C | |
2 | g.215011439T= | CA1327174099 | ABCA12 | c.2332A= (p.Thr778=) c.1378A= (p.Thr460=) n.2576A= n.2774A= | |
2 | g.215011440G>A | CA431151407 | ABCA12 | c.2331C>T (p.Ser777=) c.1377C>T (p.Ser459=) n.2575C>T n.2773C>T | |
2 | g.215011440G>C | CA431151408 | ABCA12 | c.2331C>G (p.Ser777=) c.1377C>G (p.Ser459=) n.2575C>G n.2773C>G | |
2 | g.215011440G>T | CA431151409 | ABCA12 | c.2331C>A (p.Ser777=) c.1377C>A (p.Ser459=) n.2575C>A n.2773C>A | gnomAD v4 |
2 | g.215011441G>A | CA2091992 | ABCA12 | c.2330C>T (p.Ser777Phe) c.1376C>T (p.Ser459Phe) n.2574C>T n.2772C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011441G>C | CA350483384 | ABCA12 | c.2330C>G (p.Ser777Cys) c.1376C>G (p.Ser459Cys) n.2574C>G n.2772C>G | |
2 | g.215011441G= | CA1327174100 | ABCA12 | c.2330C= (p.Ser777=) c.1376C= (p.Ser459=) n.2574C= n.2772C= | |
2 | g.215011441G>T | CA350483383 | ABCA12 | c.2330C>A (p.Ser777Tyr) c.1376C>A (p.Ser459Tyr) n.2574C>A n.2772C>A | dbSNP gnomAD v3 gnomAD v4 |
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 | |
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 | |
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 |
2 | g.215011474T>G | CA350483458 | ABCA12 | c.2297A>C (p.Gln766Pro) c.1343A>C (p.Gln448Pro) n.2541A>C n.2739A>C | |
2 | g.215011475G>A | CA350483459 | ABCA12 | c.2296C>T (p.Gln766Ter) c.1342C>T (p.Gln448Ter) n.2540C>T n.2738C>T | ClinVar dbSNP |
2 | g.215011475G>C | CA350483460 | ABCA12 | c.2296C>G (p.Gln766Glu) c.1342C>G (p.Gln448Glu) n.2540C>G n.2738C>G | dbSNP |
2 | g.215011475G= | CA1327174110 | ABCA12 | c.2296C= (p.Gln766=) c.1342C= (p.Gln448=) n.2540C= n.2738C= | |
2 | g.215011475G>T | CA2091996 | ABCA12 | c.2296C>A (p.Gln766Lys) c.1342C>A (p.Gln448Lys) n.2540C>A n.2738C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.215011476C>A | CA350483462 | ABCA12 | c.2295G>T (p.Glu765Asp) c.1341G>T (p.Glu447Asp) n.2539G>T n.2737G>T | |
2 | g.215011476C= | CA1327174111 | ABCA12 | c.2295G= (p.Glu765=) c.1341G= (p.Glu447=) n.2539G= n.2737G= | |
2 | g.215011476C>G | CA350483461 | ABCA12 | c.2295G>C (p.Glu765Asp) c.1341G>C (p.Glu447Asp) n.2539G>C n.2737G>C | |
2 | g.215011476C>T | CA2091997 | ABCA12 | c.2295G>A (p.Glu765=) c.1341G>A (p.Glu447=) n.2539G>A n.2737G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011477T>A | CA350483463 | ABCA12 | c.2294A>T (p.Glu765Val) c.1340A>T (p.Glu447Val) n.2538A>T n.2736A>T | |
2 | g.215011477T>C | CA350483464 | ABCA12 | c.2294A>G (p.Glu765Gly) c.1340A>G (p.Glu447Gly) n.2538A>G n.2736A>G | |
2 | g.215011477T>G | CA350483465 | ABCA12 | c.2294A>C (p.Glu765Ala) c.1340A>C (p.Glu447Ala) n.2538A>C n.2736A>C | dbSNP |
2 | g.215011478C>A | CA350483466 | ABCA12 | c.2293G>T (p.Glu765Ter) c.1339G>T (p.Glu447Ter) n.2537G>T n.2735G>T | |
2 | g.215011478C>G | CA350483467 | ABCA12 | c.2293G>C (p.Glu765Gln) c.1339G>C (p.Glu447Gln) n.2537G>C n.2735G>C | COSMIC COSMIC |
2 | g.215011478C>T | CA350483468 | ABCA12 | c.2293G>A (p.Glu765Lys) c.1339G>A (p.Glu447Lys) n.2537G>A n.2735G>A | |
2 | g.215011479T>A | CA350483469 | ABCA12 | c.2292A>T (p.Lys764Asn) c.1338A>T (p.Lys446Asn) n.2536A>T n.2734A>T | |
2 | g.215011479T>C | CA431151431 | ABCA12 | c.2292A>G (p.Lys764=) c.1338A>G (p.Lys446=) n.2536A>G n.2734A>G | |
2 | g.215011479T>G | CA350483470 | ABCA12 | c.2292A>C (p.Lys764Asn) c.1338A>C (p.Lys446Asn) n.2536A>C n.2734A>C | |
2 | g.215011480T>A | CA350483471 | ABCA12 | c.2291A>T (p.Lys764Ile) c.1337A>T (p.Lys446Ile) n.2535A>T n.2733A>T | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011480T>C | CA350483472 | ABCA12 | c.2291A>G (p.Lys764Arg) c.1337A>G (p.Lys446Arg) n.2535A>G n.2733A>G | |
2 | g.215011480T>G | CA64844283 | ABCA12 | c.2291A>C (p.Lys764Thr) c.1337A>C (p.Lys446Thr) n.2535A>C n.2733A>C | dbSNP gnomAD v3 gnomAD v4 |
2 | g.215011480T= | CA1327174112 | ABCA12 | c.2291A= (p.Lys764=) c.1337A= (p.Lys446=) n.2535A= n.2733A= | |
2 | g.215011481T>A | CA350483473 | ABCA12 | c.2290A>T (p.Lys764Ter) c.1336A>T (p.Lys446Ter) n.2534A>T n.2732A>T | |
2 | g.215011481T>C | CA350483475 | ABCA12 | c.2290A>G (p.Lys764Glu) c.1336A>G (p.Lys446Glu) n.2534A>G n.2732A>G | gnomAD v4 |
2 | g.215011481T>G | CA350483474 | ABCA12 | c.2290A>C (p.Lys764Gln) c.1336A>C (p.Lys446Gln) n.2534A>C n.2732A>C | |
2 | g.215011482A>C | CA431151432 | ABCA12 | c.2289T>G (p.Thr763=) c.1335T>G (p.Thr445=) n.2533T>G n.2731T>G | |
2 | g.215011482A>G | CA431151434 | ABCA12 | c.2289T>C (p.Thr763=) c.1335T>C (p.Thr445=) n.2533T>C n.2731T>C | |
2 | g.215011482A>T | CA431151433 | ABCA12 | c.2289T>A (p.Thr763=) c.1335T>A (p.Thr445=) n.2533T>A n.2731T>A | |
2 | g.215011483G>A | CA2091998 | ABCA12 | c.2288C>T (p.Thr763Ile) c.1334C>T (p.Thr445Ile) n.2532C>T n.2730C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011483G>C | CA350483476 | ABCA12 | c.2288C>G (p.Thr763Ser) c.1334C>G (p.Thr445Ser) n.2532C>G n.2730C>G | |
2 | g.215011483G= | CA1327174113 | ABCA12 | c.2288C= (p.Thr763=) c.1334C= (p.Thr445=) n.2532C= n.2730C= | |
2 | g.215011483G>T | CA350483477 | ABCA12 | c.2288C>A (p.Thr763Asn) c.1334C>A (p.Thr445Asn) n.2532C>A n.2730C>A | |
2 | g.215011484T>A | CA350483478 | ABCA12 | c.2287A>T (p.Thr763Ser) c.1333A>T (p.Thr445Ser) n.2531A>T n.2729A>T | |
2 | g.215011484T>C | CA350483479 | ABCA12 | c.2287A>G (p.Thr763Ala) c.1333A>G (p.Thr445Ala) n.2531A>G n.2729A>G | |
2 | g.215011484T>G | CA350483480 | ABCA12 | c.2287A>C (p.Thr763Pro) c.1333A>C (p.Thr445Pro) n.2531A>C n.2729A>C | |
2 | g.215011485T>A | CA350483481 | ABCA12 | c.2286A>T (p.Leu762Phe) c.1332A>T (p.Leu444Phe) n.2530A>T n.2728A>T | |
2 | g.215011485T>C | CA431151435 | ABCA12 | c.2286A>G (p.Leu762=) c.1332A>G (p.Leu444=) n.2530A>G n.2728A>G | |
2 | g.215011485T>G | CA350483482 | ABCA12 | c.2286A>C (p.Leu762Phe) c.1332A>C (p.Leu444Phe) n.2530A>C n.2728A>C | |
2 | g.215011486A>C | CA350483483 | ABCA12 | c.2285T>G (p.Leu762Ter) c.1331T>G (p.Leu444Ter) n.2529T>G n.2727T>G | COSMIC |
2 | g.215011486A>G | CA350483484 | ABCA12 | c.2285T>C (p.Leu762Ser) c.1331T>C (p.Leu444Ser) n.2529T>C n.2727T>C | |
2 | g.215011486A>T | CA350483485 | ABCA12 | c.2285T>A (p.Leu762Ter) c.1331T>A (p.Leu444Ter) n.2529T>A n.2727T>A | |
2 | g.215011487A>C | CA350483487 | ABCA12 | c.2284T>G (p.Leu762Val) c.1330T>G (p.Leu444Val) n.2528T>G n.2726T>G | |
2 | g.215011487A>G | CA431151436 | ABCA12 | c.2284T>C (p.Leu762=) c.1330T>C (p.Leu444=) n.2528T>C n.2726T>C | |
2 | g.215011487A>T | CA350483486 | ABCA12 | c.2284T>A (p.Leu762Ile) c.1330T>A (p.Leu444Ile) n.2528T>A n.2726T>A | |
2 | g.215011488T>A | CA350483488 | ABCA12 | c.2283A>T (p.Lys761Asn) c.1329A>T (p.Lys443Asn) n.2527A>T n.2725A>T | |
2 | g.215011488T>C | CA431151437 | ABCA12 | c.2283A>G (p.Lys761=) c.1329A>G (p.Lys443=) n.2527A>G n.2725A>G | |
2 | g.215011488T>G | CA350483489 | ABCA12 | c.2283A>C (p.Lys761Asn) c.1329A>C (p.Lys443Asn) n.2527A>C n.2725A>C | |
2 | g.215011489T>A | CA350483490 | ABCA12 | c.2282A>T (p.Lys761Ile) c.1328A>T (p.Lys443Ile) n.2526A>T n.2724A>T | |
2 | g.215011489T>C | CA2091999 | ABCA12 | c.2282A>G (p.Lys761Arg) c.1328A>G (p.Lys443Arg) n.2526A>G n.2724A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011489T>G | CA350483491 | ABCA12 | c.2282A>C (p.Lys761Thr) c.1328A>C (p.Lys443Thr) n.2526A>C n.2724A>C | |
2 | g.215011489T= | CA1327174114 | ABCA12 | c.2282A= (p.Lys761=) c.1328A= (p.Lys443=) n.2526A= n.2724A= | |
2 | g.215011490T>A | CA350483492 | ABCA12 | c.2281A>T (p.Lys761Ter) c.1327A>T (p.Lys443Ter) n.2525A>T n.2723A>T | |
2 | g.215011490T>C | CA350483493 | ABCA12 | c.2281A>G (p.Lys761Glu) c.1327A>G (p.Lys443Glu) n.2525A>G n.2723A>G | |
2 | g.215011490T>G | CA350483494 | ABCA12 | c.2281A>C (p.Lys761Gln) c.1327A>C (p.Lys443Gln) n.2525A>C n.2723A>C | |
2 | g.215011491A= | CA1327174115 | ABCA12 | c.2280T= (p.Tyr760=) c.1326T= (p.Tyr442=) n.2524T= n.2722T= | |
2 | g.215011491A>C | CA350483495 | ABCA12 | c.2280T>G (p.Tyr760Ter) c.1326T>G (p.Tyr442Ter) n.2524T>G n.2722T>G | |
2 | g.215011491A>G | CA2092000 | ABCA12 | c.2280T>C (p.Tyr760=) c.1326T>C (p.Tyr442=) n.2524T>C n.2722T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.215011491A>T | CA350483496 | ABCA12 | c.2280T>A (p.Tyr760Ter) c.1326T>A (p.Tyr442Ter) n.2524T>A n.2722T>A | |
2 | g.215011492T>A | CA350483497 | ABCA12 | c.2279A>T (p.Tyr760Phe) c.1325A>T (p.Tyr442Phe) n.2523A>T n.2721A>T | |
2 | g.215011492T>C | CA350483498 | ABCA12 | c.2279A>G (p.Tyr760Cys) c.1325A>G (p.Tyr442Cys) n.2523A>G n.2721A>G | |
2 | g.215011492T>G | CA350483499 | ABCA12 | c.2279A>C (p.Tyr760Ser) c.1325A>C (p.Tyr442Ser) n.2523A>C n.2721A>C | |
2 | g.215011493A>C | CA350483502 | ABCA12 | c.2278T>G (p.Tyr760Asp) c.1324T>G (p.Tyr442Asp) n.2522T>G n.2720T>G | |
2 | g.215011493A>G | CA350483501 | ABCA12 | c.2278T>C (p.Tyr760His) c.1324T>C (p.Tyr442His) n.2522T>C n.2720T>C | |
2 | g.215011493A>T | CA350483500 | ABCA12 | c.2278T>A (p.Tyr760Asn) c.1324T>A (p.Tyr442Asn) n.2522T>A n.2720T>A | |
2 | g.215011494A>C | CA431151438 | ABCA12 | c.2277T>G (p.Thr759=) c.1323T>G (p.Thr441=) n.2521T>G n.2719T>G | |
2 | g.215011494A>G | CA431151439 | ABCA12 | c.2277T>C (p.Thr759=) c.1323T>C (p.Thr441=) n.2521T>C n.2719T>C | |
2 | g.215011494A>T | CA431151440 | ABCA12 | c.2277T>A (p.Thr759=) c.1323T>A (p.Thr441=) n.2521T>A n.2719T>A | |
2 | g.215011495G>A | CA350483503 | ABCA12 | c.2276C>T (p.Thr759Ile) c.1322C>T (p.Thr441Ile) n.2520C>T n.2718C>T | gnomAD v4 |
2 | g.215011495G>C | CA10614259 | ABCA12 | c.2276C>G (p.Thr759Ser) c.1322C>G (p.Thr441Ser) n.2520C>G n.2718C>G | ClinVar dbSNP gnomAD v4 |
2 | g.215011495G= | CA1327174116 | ABCA12 | c.2276C= (p.Thr759=) c.1322C= (p.Thr441=) n.2520C= n.2718C= | |
2 | g.215011495G>T | CA350483504 | ABCA12 | c.2276C>A (p.Thr759Asn) c.1322C>A (p.Thr441Asn) n.2520C>A n.2718C>A | |
2 | g.215011496T>A | CA350483505 | ABCA12 | c.2275A>T (p.Thr759Ser) c.1321A>T (p.Thr441Ser) n.2519A>T n.2717A>T | |
2 | g.215011496T>C | CA350483506 | ABCA12 | c.2275A>G (p.Thr759Ala) c.1321A>G (p.Thr441Ala) n.2519A>G n.2717A>G | gnomAD v4 |
2 | g.215011496T>G | CA350483507 | ABCA12 | c.2275A>C (p.Thr759Pro) c.1321A>C (p.Thr441Pro) n.2519A>C n.2717A>C | COSMIC |
2 | g.215011496dup | CA2586971326 | ABCA12 | c.2275dup (p.Thr759AsnfsTer3) c.1321dup (p.Thr441AsnfsTer3) n.2519dup n.2717dup | |
2 | g.215011497C>A | CA350483508 | ABCA12 | c.2274G>T (p.Leu758Phe) c.1320G>T (p.Leu440Phe) n.2518G>T n.2716G>T | |
2 | g.215011497C= | CA1327174118 | ABCA12 | c.2274G= (p.Leu758=) c.1320G= (p.Leu440=) n.2518G= n.2716G= | |
2 | g.215011497C>G | CA350483509 | ABCA12 | c.2274G>C (p.Leu758Phe) c.1320G>C (p.Leu440Phe) n.2518G>C n.2716G>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011497C>T | CA431151441 | ABCA12 | c.2274G>A (p.Leu758=) c.1320G>A (p.Leu440=) n.2518G>A n.2716G>A | |
2 | g.215011497_215011498delinsCA | CA1327174117 | ABCA12 | c.2273_2274delinsTG (p.Leu758=) c.1319_1320delinsTG (p.Leu440=) n.2517_2518delinsTG n.2715_2716delinsTG | |
2 | g.215011498A>C | CA350483510 | ABCA12 | c.2273T>G (p.Leu758Trp) c.1319T>G (p.Leu440Trp) n.2517T>G n.2715T>G | |
2 | g.215011498A>G | CA350483511 | ABCA12 | c.2273T>C (p.Leu758Ser) c.1319T>C (p.Leu440Ser) n.2517T>C n.2715T>C | |
2 | g.215011498A>T | CA350483512 | ABCA12 | c.2273T>A (p.Leu758Ter) c.1319T>A (p.Leu440Ter) n.2517T>A n.2715T>A | |
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.215011499A>C | CA350483513 | ABCA12 | c.2272T>G (p.Leu758Val) c.1318T>G (p.Leu440Val) n.2516T>G n.2714T>G | |
2 | g.215011499A>G | CA431151442 | ABCA12 | c.2272T>C (p.Leu758=) c.1318T>C (p.Leu440=) n.2516T>C n.2714T>C | |
2 | g.215011499A>T | CA350483514 | ABCA12 | c.2272T>A (p.Leu758Met) c.1318T>A (p.Leu440Met) n.2516T>A n.2714T>A | |
2 | g.215011500A= | CA1327174119 | ABCA12 | c.2271T= (p.Phe757=) c.1317T= (p.Phe439=) n.2515T= n.2713T= | |
2 | g.215011500A>C | CA350483515 | ABCA12 | c.2271T>G (p.Phe757Leu) c.1317T>G (p.Phe439Leu) n.2515T>G n.2713T>G | COSMIC COSMIC |
2 | g.215011500A>G | CA431151443 | ABCA12 | c.2271T>C (p.Phe757=) c.1317T>C (p.Phe439=) n.2515T>C n.2713T>C | dbSNP gnomAD v2 gnomAD v4 |
2 | g.215011500A>T | CA350483516 | ABCA12 | c.2271T>A (p.Phe757Leu) c.1317T>A (p.Phe439Leu) n.2515T>A n.2713T>A | |
2 | g.215011501A>C | CA350483517 | ABCA12 | c.2270T>G (p.Phe757Cys) c.1316T>G (p.Phe439Cys) n.2514T>G n.2712T>G | |
2 | g.215011501A>G | CA350483519 | ABCA12 | c.2270T>C (p.Phe757Ser) c.1316T>C (p.Phe439Ser) n.2514T>C n.2712T>C | |
2 | g.215011501A>T | CA350483518 | ABCA12 | c.2270T>A (p.Phe757Tyr) c.1316T>A (p.Phe439Tyr) n.2514T>A n.2712T>A | |
2 | g.215011502A>C | CA350483520 | ABCA12 | c.2269T>G (p.Phe757Val) c.1315T>G (p.Phe439Val) n.2513T>G n.2711T>G | |
2 | g.215011502A>G | CA350483522 | ABCA12 | c.2269T>C (p.Phe757Leu) c.1315T>C (p.Phe439Leu) n.2513T>C n.2711T>C | COSMIC COSMIC |
2 | g.215011502A>T | CA350483521 | ABCA12 | c.2269T>A (p.Phe757Ile) c.1315T>A (p.Phe439Ile) n.2513T>A n.2711T>A | |
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 |