Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.21009377C>A | CA43502545 | APOB | c.7491G>T (p.Gln2497His) c.5869+1356G>T (n.5869+1356G>T) | dbSNP COSMIC |
2 | g.21009377C= | CA2493476208 | APOB | c.7491G= (p.Gln2497=) c.5869+1356G= (n.5869+1356G=) | |
2 | g.21009377C>G | CA345997038 | APOB | c.7491G>C (p.Gln2497His) c.5869+1356G>C (n.5869+1356G>C) | |
2 | g.21009377C>T | CA425345067 | APOB | c.7491G>A (p.Gln2497=) c.5869+1356G>A (n.5869+1356G>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009378T>A | CA345997039 | APOB | c.7490A>T (p.Gln2497Leu) c.5869+1355A>T (n.5869+1355A>T) | |
2 | g.21009378T>C | CA345997041 | APOB | c.7490A>G (p.Gln2497Arg) c.5869+1355A>G (n.5869+1355A>G) | |
2 | g.21009378T>G | CA345997040 | APOB | c.7490A>C (p.Gln2497Pro) c.5869+1355A>C (n.5869+1355A>C) | |
2 | g.21009379G>A | CA345997042 | APOB | c.7489C>T (p.Gln2497Ter) c.5869+1354C>T (n.5869+1354C>T) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009379G>C | CA345997044 | APOB | c.7489C>G (p.Gln2497Glu) c.5869+1354C>G (n.5869+1354C>G) | |
2 | g.21009379G= | CA2493476209 | APOB | c.7489C= (p.Gln2497=) c.5869+1354C= (n.5869+1354C=) | |
2 | g.21009379G>T | CA345997043 | APOB | c.7489C>A (p.Gln2497Lys) c.5869+1354C>A (n.5869+1354C>A) | |
2 | g.21009380T>A | CA345997045 | APOB | c.7488A>T (p.Leu2496Phe) c.5869+1353A>T (n.5869+1353A>T) | |
2 | g.21009380T>C | CA425345070 | APOB | c.7488A>G (p.Leu2496=) c.5869+1353A>G (n.5869+1353A>G) | |
2 | g.21009380T>G | CA345997046 | APOB | c.7488A>C (p.Leu2496Phe) c.5869+1353A>C (n.5869+1353A>C) | |
2 | g.21009381A= | CA2493476210 | APOB | c.7487T= (p.Leu2496=) c.5869+1352T= (n.5869+1352T=) | |
2 | g.21009381A>C | CA345997047 | APOB | c.7487T>G (p.Leu2496Ter) c.5869+1352T>G (n.5869+1352T>G) | |
2 | g.21009381A>G | CA345997048 | APOB | c.7487T>C (p.Leu2496Ser) c.5869+1352T>C (n.5869+1352T>C) | ClinVar dbSNP |
2 | g.21009381A>T | CA345997049 | APOB | c.7487T>A (p.Leu2496Ter) c.5869+1352T>A (n.5869+1352T>A) | |
2 | g.21009382A>C | CA345997050 | APOB | c.7486T>G (p.Leu2496Val) c.5869+1351T>G (n.5869+1351T>G) | |
2 | g.21009382A>G | CA425345075 | APOB | c.7486T>C (p.Leu2496=) c.5869+1351T>C (n.5869+1351T>C) | |
2 | g.21009382A>T | CA345997051 | APOB | c.7486T>A (p.Leu2496Ile) c.5869+1351T>A (n.5869+1351T>A) | |
2 | g.21009383C>A | CA345997052 | APOB | c.7485G>T (p.Trp2495Cys) c.5869+1350G>T (n.5869+1350G>T) | |
2 | g.21009383C>G | CA345997053 | APOB | c.7485G>C (p.Trp2495Cys) c.5869+1350G>C (n.5869+1350G>C) | |
2 | g.21009383C>T | CA345997054 | APOB | c.7485G>A (p.Trp2495Ter) c.5869+1350G>A (n.5869+1350G>A) | |
2 | g.21009384C>A | CA064445 | APOB | c.7484G>T (p.Trp2495Leu) c.5869+1349G>T (n.5869+1349G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009384C= | CA2493476211 | APOB | c.7484G= (p.Trp2495=) c.5869+1349G= (n.5869+1349G=) | |
2 | g.21009384C>G | CA345997056 | APOB | c.7484G>C (p.Trp2495Ser) c.5869+1349G>C (n.5869+1349G>C) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009384C>T | CA345997055 | APOB | c.7484G>A (p.Trp2495Ter) c.5869+1349G>A (n.5869+1349G>A) | |
2 | g.21009384_21009385insT | CA2586968927 | APOB | c.7483_7484insA (p.Trp2495Ter) c.5869+1348_5869+1349insA (n.5869+1348_5869+1349insA) | |
2 | g.21009385A>C | CA345997057 | APOB | c.7483T>G (p.Trp2495Gly) c.5869+1348T>G (n.5869+1348T>G) | |
2 | g.21009385A>G | CA345997058 | APOB | c.7483T>C (p.Trp2495Arg) c.5869+1348T>C (n.5869+1348T>C) | COSMIC |
2 | g.21009385A>T | CA345997059 | APOB | c.7483T>A (p.Trp2495Arg) c.5869+1348T>A (n.5869+1348T>A) | dbSNP gnomAD v4 |
2 | g.21009386A>C | CA345997060 | APOB | c.7482T>G (p.Asn2494Lys) c.5869+1347T>G (n.5869+1347T>G) | COSMIC |
2 | g.21009386A>G | CA425345078 | APOB | c.7482T>C (p.Asn2494=) c.5869+1347T>C (n.5869+1347T>C) | |
2 | g.21009386A>T | CA345997061 | APOB | c.7482T>A (p.Asn2494Lys) c.5869+1347T>A (n.5869+1347T>A) | |
2 | g.21009387T>A | CA345997062 | APOB | c.7481A>T (p.Asn2494Ile) c.5869+1346A>T (n.5869+1346A>T) | |
2 | g.21009387T>C | CA345997063 | APOB | c.7481A>G (p.Asn2494Ser) c.5869+1346A>G (n.5869+1346A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009387T>G | CA345997064 | APOB | c.7481A>C (p.Asn2494Thr) c.5869+1346A>C (n.5869+1346A>C) | |
2 | g.21009387T= | CA2493476212 | APOB | c.7481A= (p.Asn2494=) c.5869+1346A= (n.5869+1346A=) | |
2 | g.21009388T>A | CA345997065 | APOB | c.7480A>T (p.Asn2494Tyr) c.5869+1345A>T (n.5869+1345A>T) | |
2 | g.21009388T>C | CA43502548 | APOB | c.7480A>G (p.Asn2494Asp) c.5869+1345A>G (n.5869+1345A>G) | dbSNP |
2 | g.21009388T>G | CA345997066 | APOB | c.7480A>C (p.Asn2494His) c.5869+1345A>C (n.5869+1345A>C) | |
2 | g.21009388T= | CA2493476213 | APOB | c.7480A= (p.Asn2494=) c.5869+1345A= (n.5869+1345A=) | |
2 | g.21009392_21009394del | CA2749094037 | APOB | c.7478_7480del (p.Ile2493del) c.5869+1343_5869+1345del (n.5869+1343_5869+1345del) | |
2 | g.21009389G>A | CA425345080 | APOB | c.7479C>T (p.Ile2493=) c.5869+1344C>T (n.5869+1344C>T) | |
2 | g.21009389G>C | CA345997067 | APOB | c.7479C>G (p.Ile2493Met) c.5869+1344C>G (n.5869+1344C>G) | |
2 | g.21009389G>T | CA425345082 | APOB | c.7479C>A (p.Ile2493=) c.5869+1344C>A (n.5869+1344C>A) | |
2 | g.21009390A>C | CA345997069 | APOB | c.7478T>G (p.Ile2493Ser) c.5869+1343T>G (n.5869+1343T>G) | |
2 | g.21009390A>G | CA345997070 | APOB | c.7478T>C (p.Ile2493Thr) c.5869+1343T>C (n.5869+1343T>C) | |
2 | g.21009390A>T | CA345997068 | APOB | c.7478T>A (p.Ile2493Asn) c.5869+1343T>A (n.5869+1343T>A) | |
2 | g.21009391T>A | CA345997071 | APOB | c.7477A>T (p.Ile2493Phe) c.5869+1342A>T (n.5869+1342A>T) | |
2 | g.21009391T>C | CA345997072 | APOB | c.7477A>G (p.Ile2493Val) c.5869+1342A>G (n.5869+1342A>G) | dbSNP |
2 | g.21009391T>G | CA345997073 | APOB | c.7477A>C (p.Ile2493Leu) c.5869+1342A>C (n.5869+1342A>C) | |
2 | g.21009391T= | CA2493476214 | APOB | c.7477A= (p.Ile2493=) c.5869+1342A= (n.5869+1342A=) | |
2 | g.21009392G>A | CA425345086 | APOB | c.7476C>T (p.Ile2492=) c.5869+1341C>T (n.5869+1341C>T) | dbSNP COSMIC |
2 | g.21009392G>C | CA345997074 | APOB | c.7476C>G (p.Ile2492Met) c.5869+1341C>G (n.5869+1341C>G) | |
2 | g.21009392G= | CA2493476215 | APOB | c.7476C= (p.Ile2492=) c.5869+1341C= (n.5869+1341C=) | |
2 | g.21009392G>T | CA425345087 | APOB | c.7476C>A (p.Ile2492=) c.5869+1341C>A (n.5869+1341C>A) | |
2 | g.21009393A>C | CA345997075 | APOB | c.7475T>G (p.Ile2492Ser) c.5869+1340T>G (n.5869+1340T>G) | |
2 | g.21009393A>G | CA345997076 | APOB | c.7475T>C (p.Ile2492Thr) c.5869+1340T>C (n.5869+1340T>C) | |
2 | g.21009393A>T | CA345997077 | APOB | c.7475T>A (p.Ile2492Asn) c.5869+1340T>A (n.5869+1340T>A) | |
2 | g.21009394T>A | CA345997078 | APOB | c.7474A>T (p.Ile2492Phe) c.5869+1339A>T (n.5869+1339A>T) | |
2 | g.21009394T>C | CA345997079 | APOB | c.7474A>G (p.Ile2492Val) c.5869+1339A>G (n.5869+1339A>G) | |
2 | g.21009394T>G | CA345997080 | APOB | c.7474A>C (p.Ile2492Leu) c.5869+1339A>C (n.5869+1339A>C) | |
2 | g.21009395T>A | CA345997081 | APOB | c.7473A>T (p.Leu2491Phe) c.5869+1338A>T (n.5869+1338A>T) | |
2 | g.21009395T>C | CA425345090 | APOB | c.7473A>G (p.Leu2491=) c.5869+1338A>G (n.5869+1338A>G) | |
2 | g.21009395T>G | CA345997082 | APOB | c.7473A>C (p.Leu2491Phe) c.5869+1338A>C (n.5869+1338A>C) | gnomAD v4 |
2 | g.21009396A= | CA2493476216 | APOB | c.7472T= (p.Leu2491=) c.5869+1337T= (n.5869+1337T=) | |
2 | g.21009396A>C | CA345997084 | APOB | c.7472T>G (p.Leu2491Ter) c.5869+1337T>G (n.5869+1337T>G) | gnomAD v4 |
2 | g.21009396A>G | CA064440 | APOB | c.7472T>C (p.Leu2491Ser) c.5869+1337T>C (n.5869+1337T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009396A>T | CA345997083 | APOB | c.7472T>A (p.Leu2491Ter) c.5869+1337T>A (n.5869+1337T>A) | |
2 | g.21009397A>C | CA345997085 | APOB | c.7471T>G (p.Leu2491Val) c.5869+1336T>G (n.5869+1336T>G) | |
2 | g.21009397A>G | CA425345093 | APOB | c.7471T>C (p.Leu2491=) c.5869+1336T>C (n.5869+1336T>C) | |
2 | g.21009397A>T | CA345997086 | APOB | c.7471T>A (p.Leu2491Ile) c.5869+1336T>A (n.5869+1336T>A) | |
2 | g.21009398G>A | CA064434 | APOB | c.7470C>T (p.Thr2490=) c.5869+1335C>T (n.5869+1335C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009398G>C | CA425345094 | APOB | c.7470C>G (p.Thr2490=) c.5869+1335C>G (n.5869+1335C>G) | ClinVar |
2 | g.21009398G= | CA2493476217 | APOB | c.7470C= (p.Thr2490=) c.5869+1335C= (n.5869+1335C=) | |
2 | g.21009398G>T | CA425345095 | APOB | c.7470C>A (p.Thr2490=) c.5869+1335C>A (n.5869+1335C>A) | COSMIC |
2 | g.21009399G>A | CA345997087 | APOB | c.7469C>T (p.Thr2490Ile) c.5869+1334C>T (n.5869+1334C>T) | gnomAD v4 |
2 | g.21009399G>C | CA345997088 | APOB | c.7469C>G (p.Thr2490Ser) c.5869+1334C>G (n.5869+1334C>G) | |
2 | g.21009399G= | CA2493476218 | APOB | c.7469C= (p.Thr2490=) c.5869+1334C= (n.5869+1334C=) | |
2 | g.21009399G>T | CA345997089 | APOB | c.7469C>A (p.Thr2490Asn) c.5869+1334C>A (n.5869+1334C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009400T>A | CA345997090 | APOB | c.7468A>T (p.Thr2490Ser) c.5869+1333A>T (n.5869+1333A>T) | |
2 | g.21009400T>C | CA345997092 | APOB | c.7468A>G (p.Thr2490Ala) c.5869+1333A>G (n.5869+1333A>G) | |
2 | g.21009400T>G | CA345997091 | APOB | c.7468A>C (p.Thr2490Pro) c.5869+1333A>C (n.5869+1333A>C) | |
2 | g.21009401T>A | CA425345099 | APOB | c.7467A>T (p.Ile2489=) c.5869+1332A>T (n.5869+1332A>T) | |
2 | g.21009401T>C | CA345997093 | APOB | c.7467A>G (p.Ile2489Met) c.5869+1332A>G (n.5869+1332A>G) | |
2 | g.21009401T>G | CA425345101 | APOB | c.7467A>C (p.Ile2489=) c.5869+1332A>C (n.5869+1332A>C) | |
2 | g.21009402A>C | CA345997094 | APOB | c.7466T>G (p.Ile2489Arg) c.5869+1331T>G (n.5869+1331T>G) | ClinVar |
2 | g.21009402A>G | CA345997095 | APOB | c.7466T>C (p.Ile2489Thr) c.5869+1331T>C (n.5869+1331T>C) | |
2 | g.21009402A>T | CA345997096 | APOB | c.7466T>A (p.Ile2489Lys) c.5869+1331T>A (n.5869+1331T>A) | |
2 | g.21009403T>A | CA345997097 | APOB | c.7465A>T (p.Ile2489Leu) c.5869+1330A>T (n.5869+1330A>T) | |
2 | g.21009403T>C | CA345997099 | APOB | c.7465A>G (p.Ile2489Val) c.5869+1330A>G (n.5869+1330A>G) | |
2 | g.21009403T>G | CA345997098 | APOB | c.7465A>C (p.Ile2489Leu) c.5869+1330A>C (n.5869+1330A>C) | |
2 | g.21009404T>A | CA345997100 | APOB | c.7464A>T (p.Lys2488Asn) c.5869+1329A>T (n.5869+1329A>T) | |
2 | g.21009404T>C | CA425345105 | APOB | c.7464A>G (p.Lys2488=) c.5869+1329A>G (n.5869+1329A>G) | gnomAD v4 |
2 | g.21009404T>G | CA345997101 | APOB | c.7464A>C (p.Lys2488Asn) c.5869+1329A>C (n.5869+1329A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009404T= | CA2493476219 | APOB | c.7464A= (p.Lys2488=) c.5869+1329A= (n.5869+1329A=) | |
2 | g.21009405T>A | CA345997102 | APOB | c.7463A>T (p.Lys2488Ile) c.5869+1328A>T (n.5869+1328A>T) | |
2 | g.21009405T>C | CA345997104 | APOB | c.7463A>G (p.Lys2488Arg) c.5869+1328A>G (n.5869+1328A>G) | dbSNP gnomAD v4 |
2 | g.21009405T>G | CA345997103 | APOB | c.7463A>C (p.Lys2488Thr) c.5869+1328A>C (n.5869+1328A>C) | |
2 | g.21009406T>A | CA345997105 | APOB | c.7462A>T (p.Lys2488Ter) c.5869+1327A>T (n.5869+1327A>T) | |
2 | g.21009406T>C | CA345997107 | APOB | c.7462A>G (p.Lys2488Glu) c.5869+1327A>G (n.5869+1327A>G) | gnomAD v4 |
2 | g.21009406T>G | CA345997106 | APOB | c.7462A>C (p.Lys2488Gln) c.5869+1327A>C (n.5869+1327A>C) | |
2 | g.21009407G>A | CA425345110 | APOB | c.7461C>T (p.Thr2487=) c.5869+1326C>T (n.5869+1326C>T) | |
2 | g.21009407G>C | CA425345111 | APOB | c.7461C>G (p.Thr2487=) c.5869+1326C>G (n.5869+1326C>G) | |
2 | g.21009407G>T | CA425345113 | APOB | c.7461C>A (p.Thr2487=) c.5869+1326C>A (n.5869+1326C>A) | gnomAD v4 |
2 | g.21009407_21009409delinsGGT | CA2493476220 | APOB | c.7459_7461delinsACC (p.Thr2487=) c.5869+1324_5869+1326delinsACC (n.5869+1324_5869+1326delinsACC) | |
2 | g.21009408G>A | CA345997108 | APOB | c.7460C>T (p.Thr2487Ile) c.5869+1325C>T (n.5869+1325C>T) | |
2 | g.21009408G>C | CA345997109 | APOB | c.7460C>G (p.Thr2487Ser) c.5869+1325C>G (n.5869+1325C>G) | gnomAD v4 |
2 | g.21009408G>T | CA345997110 | APOB | c.7460C>A (p.Thr2487Asn) c.5869+1325C>A (n.5869+1325C>A) | |
2 | g.21009410_21009411del | CA531312750 | APOB | c.7459_7460del (p.Thr2487GlnfsTer?) c.5869+1324_5869+1325del (n.5869+1324_5869+1325del) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009409T>A | CA345997111 | APOB | c.7459A>T (p.Thr2487Ser) c.5869+1324A>T (n.5869+1324A>T) | |
2 | g.21009409T>C | CA345997112 | APOB | c.7459A>G (p.Thr2487Ala) c.5869+1324A>G (n.5869+1324A>G) | dbSNP |
2 | g.21009409T>G | CA345997113 | APOB | c.7459A>C (p.Thr2487Pro) c.5869+1324A>C (n.5869+1324A>C) | gnomAD v4 |
2 | g.21009410G>A | CA425345115 | APOB | c.7458C>T (p.Asp2486=) c.5869+1323C>T (n.5869+1323C>T) | |
2 | g.21009410G>C | CA345997114 | APOB | c.7458C>G (p.Asp2486Glu) c.5869+1323C>G (n.5869+1323C>G) | |
2 | g.21009410G>T | CA345997115 | APOB | c.7458C>A (p.Asp2486Glu) c.5869+1323C>A (n.5869+1323C>A) | COSMIC |
2 | g.21009411T>A | CA345997116 | APOB | c.7457A>T (p.Asp2486Val) c.5869+1322A>T (n.5869+1322A>T) | |
2 | g.21009411T>C | CA345997117 | APOB | c.7457A>G (p.Asp2486Gly) c.5869+1322A>G (n.5869+1322A>G) | |
2 | g.21009411T>G | CA345997118 | APOB | c.7457A>C (p.Asp2486Ala) c.5869+1322A>C (n.5869+1322A>C) | |
2 | g.21009412C>A | CA345997121 | APOB | c.7456G>T (p.Asp2486Tyr) c.5869+1321G>T (n.5869+1321G>T) | |
2 | g.21009412C>G | CA345997119 | APOB | c.7456G>C (p.Asp2486His) c.5869+1321G>C (n.5869+1321G>C) | |
2 | g.21009412C>T | CA345997120 | APOB | c.7456G>A (p.Asp2486Asn) c.5869+1321G>A (n.5869+1321G>A) | COSMIC |
2 | g.21009413C>A | CA345997122 | APOB | c.7455G>T (p.Gln2485His) c.5869+1320G>T (n.5869+1320G>T) | COSMIC |
2 | g.21009413C>G | CA345997123 | APOB | c.7455G>C (p.Gln2485His) c.5869+1320G>C (n.5869+1320G>C) | |
2 | g.21009413C>T | CA425345122 | APOB | c.7455G>A (p.Gln2485=) c.5869+1320G>A (n.5869+1320G>A) | |
2 | g.21009414T>A | CA345997124 | APOB | c.7454A>T (p.Gln2485Leu) c.5869+1319A>T (n.5869+1319A>T) | |
2 | g.21009414T>C | CA064430 | APOB | c.7454A>G (p.Gln2485Arg) c.5869+1319A>G (n.5869+1319A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009414T>G | CA345997125 | APOB | c.7454A>C (p.Gln2485Pro) c.5869+1319A>C (n.5869+1319A>C) | |
2 | g.21009414T= | CA2493476221 | APOB | c.7454A= (p.Gln2485=) c.5869+1319A= (n.5869+1319A=) | |
2 | g.21009415G>A | CA345997126 | APOB | c.7453C>T (p.Gln2485Ter) c.5869+1318C>T (n.5869+1318C>T) | dbSNP |
2 | g.21009415G>C | CA345997127 | APOB | c.7453C>G (p.Gln2485Glu) c.5869+1318C>G (n.5869+1318C>G) | |
2 | g.21009415G= | CA2493476222 | APOB | c.7453C= (p.Gln2485=) c.5869+1318C= (n.5869+1318C=) | |
2 | g.21009415G>T | CA345997128 | APOB | c.7453C>A (p.Gln2485Lys) c.5869+1318C>A (n.5869+1318C>A) | |
2 | g.21009416T>A | CA425345128 | APOB | c.7452A>T (p.Leu2484=) c.5869+1317A>T (n.5869+1317A>T) | |
2 | g.21009416T>C | CA425345130 | APOB | c.7452A>G (p.Leu2484=) c.5869+1317A>G (n.5869+1317A>G) | gnomAD v4 |
2 | g.21009416T>G | CA425345127 | APOB | c.7452A>C (p.Leu2484=) c.5869+1317A>C (n.5869+1317A>C) | |
2 | g.21009417A= | CA2493476223 | APOB | c.7451T= (p.Leu2484=) c.5869+1316T= (n.5869+1316T=) | |
2 | g.21009417A>C | CA345997129 | APOB | c.7451T>G (p.Leu2484Arg) c.5869+1316T>G (n.5869+1316T>G) | |
2 | g.21009417A>G | CA345997130 | APOB | c.7451T>C (p.Leu2484Pro) c.5869+1316T>C (n.5869+1316T>C) | dbSNP |
2 | g.21009417A>T | CA345997131 | APOB | c.7451T>A (p.Leu2484Gln) c.5869+1316T>A (n.5869+1316T>A) | |
2 | g.21009418G>A | CA425345133 | APOB | c.7450C>T (p.Leu2484=) c.5869+1315C>T (n.5869+1315C>T) | gnomAD v4 COSMIC |
2 | g.21009418G>C | CA345997132 | APOB | c.7450C>G (p.Leu2484Val) c.5869+1315C>G (n.5869+1315C>G) | |
2 | g.21009418G>T | CA345997133 | APOB | c.7450C>A (p.Leu2484Ile) c.5869+1315C>A (n.5869+1315C>A) | |
2 | g.21009419G>A | CA425345137 | APOB | c.7449C>T (p.Ser2483=) c.5869+1314C>T (n.5869+1314C>T) | dbSNP gnomAD v4 |
2 | g.21009419G>C | CA345997134 | APOB | c.7449C>G (p.Ser2483Arg) c.5869+1314C>G (n.5869+1314C>G) | |
2 | g.21009419G= | CA2493476224 | APOB | c.7449C= (p.Ser2483=) c.5869+1314C= (n.5869+1314C=) | |
2 | g.21009419G>T | CA345997135 | APOB | c.7449C>A (p.Ser2483Arg) c.5869+1314C>A (n.5869+1314C>A) | |
2 | g.21009420C>A | CA345997136 | APOB | c.7448G>T (p.Ser2483Ile) c.5869+1313G>T (n.5869+1313G>T) | |
2 | g.21009420C>G | CA345997137 | APOB | c.7448G>C (p.Ser2483Thr) c.5869+1313G>C (n.5869+1313G>C) | |
2 | g.21009420C>T | CA345997138 | APOB | c.7448G>A (p.Ser2483Asn) c.5869+1313G>A (n.5869+1313G>A) | COSMIC |
2 | g.21009420_21009421delinsCT | CA2493476225 | APOB | c.7447_7448delinsAG (p.Ser2483=) c.5869+1312_5869+1313delinsAG (n.5869+1312_5869+1313delinsAG) | |
2 | g.21009421T>A | CA345997139 | APOB | c.7447A>T (p.Ser2483Cys) c.5869+1312A>T (n.5869+1312A>T) | |
2 | g.21009421T>C | CA345997140 | APOB | c.7447A>G (p.Ser2483Gly) c.5869+1312A>G (n.5869+1312A>G) | |
2 | g.21009421T>G | CA345997141 | APOB | c.7447A>C (p.Ser2483Arg) c.5869+1312A>C (n.5869+1312A>C) | |
2 | g.21009423del | CA2493476226 | APOB | c.7447del (p.Ser2483AlafsTer7) c.5869+1312del (n.5869+1312del) | dbSNP |
2 | g.21009422T>A | CA345997142 | APOB | c.7446A>T (p.Glu2482Asp) c.5869+1311A>T (n.5869+1311A>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009422T>C | CA425345144 | APOB | c.7446A>G (p.Glu2482=) c.5869+1311A>G (n.5869+1311A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009422T>G | CA345997143 | APOB | c.7446A>C (p.Glu2482Asp) c.5869+1311A>C (n.5869+1311A>C) | ClinVar gnomAD v4 |
2 | g.21009422T= | CA2493476227 | APOB | c.7446A= (p.Glu2482=) c.5869+1311A= (n.5869+1311A=) | |
2 | g.21009423T>A | CA345997144 | APOB | c.7445A>T (p.Glu2482Val) c.5869+1310A>T (n.5869+1310A>T) | |
2 | g.21009423T>C | CA345997145 | APOB | c.7445A>G (p.Glu2482Gly) c.5869+1310A>G (n.5869+1310A>G) | |
2 | g.21009423T>G | CA345997146 | APOB | c.7445A>C (p.Glu2482Ala) c.5869+1310A>C (n.5869+1310A>C) | |
2 | g.21009424C>A | CA345997147 | APOB | c.7444G>T (p.Glu2482Ter) c.5869+1309G>T (n.5869+1309G>T) | |
2 | g.21009424C>G | CA345997149 | APOB | c.7444G>C (p.Glu2482Gln) c.5869+1309G>C (n.5869+1309G>C) | |
2 | g.21009424C>T | CA345997148 | APOB | c.7444G>A (p.Glu2482Lys) c.5869+1309G>A (n.5869+1309G>A) | |
2 | g.21009425C>A | CA425345149 | APOB | c.7443G>T (p.Leu2481=) c.5869+1308G>T (n.5869+1308G>T) | |
2 | g.21009425C>G | CA425345150 | APOB | c.7443G>C (p.Leu2481=) c.5869+1308G>C (n.5869+1308G>C) | |
2 | g.21009425C>T | CA425345151 | APOB | c.7443G>A (p.Leu2481=) c.5869+1308G>A (n.5869+1308G>A) | |
2 | g.21009426A>C | CA345997150 | APOB | c.7442T>G (p.Leu2481Arg) c.5869+1307T>G (n.5869+1307T>G) | |
2 | g.21009426A>G | CA345997151 | APOB | c.7442T>C (p.Leu2481Pro) c.5869+1307T>C (n.5869+1307T>C) | gnomAD v4 |
2 | g.21009426A>T | CA345997152 | APOB | c.7442T>A (p.Leu2481Gln) c.5869+1307T>A (n.5869+1307T>A) | |
2 | g.21009427G>A | CA425345156 | APOB | c.7441C>T (p.Leu2481=) c.5869+1306C>T (n.5869+1306C>T) | |
2 | g.21009427G>C | CA345997153 | APOB | c.7441C>G (p.Leu2481Val) c.5869+1306C>G (n.5869+1306C>G) | |
2 | g.21009427G>T | CA345997154 | APOB | c.7441C>A (p.Leu2481Met) c.5869+1306C>A (n.5869+1306C>A) | |
2 | g.21009428A>C | CA345997155 | APOB | c.7440T>G (p.Tyr2480Ter) c.5869+1305T>G (n.5869+1305T>G) | |
2 | g.21009428A>G | CA425345159 | APOB | c.7440T>C (p.Tyr2480=) c.5869+1305T>C (n.5869+1305T>C) | COSMIC |
2 | g.21009428A>T | CA345997156 | APOB | c.7440T>A (p.Tyr2480Ter) c.5869+1305T>A (n.5869+1305T>A) | |
2 | g.21009429T>A | CA345997157 | APOB | c.7439A>T (p.Tyr2480Phe) c.5869+1304A>T (n.5869+1304A>T) | |
2 | g.21009429T>C | CA345997158 | APOB | c.7439A>G (p.Tyr2480Cys) c.5869+1304A>G (n.5869+1304A>G) | |
2 | g.21009429T>G | CA345997159 | APOB | c.7439A>C (p.Tyr2480Ser) c.5869+1304A>C (n.5869+1304A>C) | |
2 | g.21009429_21009431delinsTAC | CA2493476228 | APOB | c.7437_7439delinsGTA (p.Val2479=) c.5869+1302_5869+1304delinsGTA (n.5869+1302_5869+1304delinsGTA) | |
2 | g.21009430A>C | CA345997161 | APOB | c.7438T>G (p.Tyr2480Asp) c.5869+1303T>G (n.5869+1303T>G) | |
2 | g.21009430A>G | CA345997162 | APOB | c.7438T>C (p.Tyr2480His) c.5869+1303T>C (n.5869+1303T>C) | |
2 | g.21009430A>T | CA345997160 | APOB | c.7438T>A (p.Tyr2480Asn) c.5869+1303T>A (n.5869+1303T>A) | |
2 | g.21009432_21009433del | CA531312752 | APOB | c.7437_7438del (p.Tyr2480SerfsTer?) c.5869+1302_5869+1303del (n.5869+1302_5869+1303del) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009431C>A | CA425345163 | APOB | c.7437G>T (p.Val2479=) c.5869+1302G>T (n.5869+1302G>T) | |
2 | g.21009431C= | CA2493476229 | APOB | c.7437G= (p.Val2479=) c.5869+1302G= (n.5869+1302G=) | |
2 | g.21009431C>G | CA425345166 | APOB | c.7437G>C (p.Val2479=) c.5869+1302G>C (n.5869+1302G>C) | |
2 | g.21009431C>T | CA425345169 | APOB | c.7437G>A (p.Val2479=) c.5869+1302G>A (n.5869+1302G>A) | dbSNP gnomAD v4 |
2 | g.21009432A= | CA2493476230 | APOB | c.7436T= (p.Val2479=) c.5869+1301T= (n.5869+1301T=) | |
2 | g.21009432A>C | CA064426 | APOB | c.7436T>G (p.Val2479Gly) c.5869+1301T>G (n.5869+1301T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009432A>G | CA345997163 | APOB | c.7436T>C (p.Val2479Ala) c.5869+1301T>C (n.5869+1301T>C) | |
2 | g.21009432A>T | CA345997164 | APOB | c.7436T>A (p.Val2479Glu) c.5869+1301T>A (n.5869+1301T>A) | |
2 | g.21009433C>A | CA345997165 | APOB | c.7435G>T (p.Val2479Leu) c.5869+1300G>T (n.5869+1300G>T) | |
2 | g.21009433C= | CA2493476231 | APOB | c.7435G= (p.Val2479=) c.5869+1300G= (n.5869+1300G=) | |
2 | g.21009433C>G | CA345997166 | APOB | c.7435G>C (p.Val2479Leu) c.5869+1300G>C (n.5869+1300G>C) | |
2 | g.21009433C>T | CA43502583 | APOB | c.7435G>A (p.Val2479Met) c.5869+1300G>A (n.5869+1300G>A) | dbSNP |
2 | g.21009433_21009434insGAGACCGAATG | CA2555183645 | APOB | c.7434_7435insCATTCGGTCTC (p.Val2479HisfsTer15) c.5869+1299_5869+1300insCATTCGGTCTC (n.5869+1299_5869+1300insCATTCGGTCTC) | |
2 | g.21009434T>A | CA425345173 | APOB | c.7434A>T (p.Ala2478=) c.5869+1299A>T (n.5869+1299A>T) | ClinVar |
2 | g.21009434T>C | CA425345174 | APOB | c.7434A>G (p.Ala2478=) c.5869+1299A>G (n.5869+1299A>G) | |
2 | g.21009434T>G | CA425345176 | APOB | c.7434A>C (p.Ala2478=) c.5869+1299A>C (n.5869+1299A>C) | |
2 | g.21009435G>A | CA345997167 | APOB | c.7433C>T (p.Ala2478Val) c.5869+1298C>T (n.5869+1298C>T) | ClinVar |
2 | g.21009435G>C | CA345997168 | APOB | c.7433C>G (p.Ala2478Gly) c.5869+1298C>G (n.5869+1298C>G) | |
2 | g.21009435G>T | CA345997169 | APOB | c.7433C>A (p.Ala2478Glu) c.5869+1298C>A (n.5869+1298C>A) | |
2 | g.21009436C>A | CA345997170 | APOB | c.7432G>T (p.Ala2478Ser) c.5869+1297G>T (n.5869+1297G>T) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009436C= | CA2493476232 | APOB | c.7432G= (p.Ala2478=) c.5869+1297G= (n.5869+1297G=) | |
2 | g.21009436C>G | CA345997171 | APOB | c.7432G>C (p.Ala2478Pro) c.5869+1297G>C (n.5869+1297G>C) | |
2 | g.21009436C>T | CA345997172 | APOB | c.7432G>A (p.Ala2478Thr) c.5869+1297G>A (n.5869+1297G>A) | gnomAD v4 |
2 | g.21009437A= | CA2493476233 | APOB | c.7431T= (p.Val2477=) c.5869+1296T= (n.5869+1296T=) | |
2 | g.21009437A>C | CA425345183 | APOB | c.7431T>G (p.Val2477=) c.5869+1296T>G (n.5869+1296T>G) | |
2 | g.21009437A>G | CA43502604 | APOB | c.7431T>C (p.Val2477=) c.5869+1296T>C (n.5869+1296T>C) | dbSNP |
2 | g.21009437A>T | CA425345184 | APOB | c.7431T>A (p.Val2477=) c.5869+1296T>A (n.5869+1296T>A) | |
2 | g.21009438A= | CA2493476234 | APOB | c.7430T= (p.Val2477=) c.5869+1295T= (n.5869+1295T=) | |
2 | g.21009438A>C | CA345997175 | APOB | c.7430T>G (p.Val2477Gly) c.5869+1295T>G (n.5869+1295T>G) | |
2 | g.21009438A>G | CA345997173 | APOB | c.7430T>C (p.Val2477Ala) c.5869+1295T>C (n.5869+1295T>C) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009438A>T | CA345997174 | APOB | c.7430T>A (p.Val2477Asp) c.5869+1295T>A (n.5869+1295T>A) | |
2 | g.21009439C>A | CA345997176 | APOB | c.7429G>T (p.Val2477Phe) c.5869+1294G>T (n.5869+1294G>T) | |
2 | g.21009439C>G | CA345997177 | APOB | c.7429G>C (p.Val2477Leu) c.5869+1294G>C (n.5869+1294G>C) | |
2 | g.21009439C>T | CA345997178 | APOB | c.7429G>A (p.Val2477Ile) c.5869+1294G>A (n.5869+1294G>A) | gnomAD v4 |
2 | g.21009440T>A | CA425345189 | APOB | c.7428A>T (p.Thr2476=) c.5869+1293A>T (n.5869+1293A>T) | |
2 | g.21009440T>C | CA425345190 | APOB | c.7428A>G (p.Thr2476=) c.5869+1293A>G (n.5869+1293A>G) | gnomAD v4 COSMIC |
2 | g.21009440T>G | CA425345191 | APOB | c.7428A>C (p.Thr2476=) c.5869+1293A>C (n.5869+1293A>C) | |
2 | g.21009441G>A | CA345997179 | APOB | c.7427C>T (p.Thr2476Ile) c.5869+1292C>T (n.5869+1292C>T) | |
2 | g.21009441G>C | CA345997180 | APOB | c.7427C>G (p.Thr2476Arg) c.5869+1292C>G (n.5869+1292C>G) | |
2 | g.21009441G>T | CA345997181 | APOB | c.7427C>A (p.Thr2476Lys) c.5869+1292C>A (n.5869+1292C>A) | gnomAD v4 |
2 | g.21009442T>A | CA345997182 | APOB | c.7426A>T (p.Thr2476Ser) c.5869+1291A>T (n.5869+1291A>T) | |
2 | g.21009442T>C | CA345997183 | APOB | c.7426A>G (p.Thr2476Ala) c.5869+1291A>G (n.5869+1291A>G) | |
2 | g.21009442T>G | CA345997184 | APOB | c.7426A>C (p.Thr2476Pro) c.5869+1291A>C (n.5869+1291A>C) | |
2 | g.21009443G>A | CA425345200 | APOB | c.7425C>T (p.Ala2475=) c.5869+1290C>T (n.5869+1290C>T) | |
2 | g.21009443G>C | CA425345201 | APOB | c.7425C>G (p.Ala2475=) c.5869+1290C>G (n.5869+1290C>G) | |
2 | g.21009443G>T | CA425345202 | APOB | c.7425C>A (p.Ala2475=) c.5869+1290C>A (n.5869+1290C>A) | |
2 | g.21009444del | CA2740092732 | APOB | c.7425del (p.Thr2476GlnfsTer14) c.5869+1290del (n.5869+1290del) | ClinVar |
2 | g.21009444G>A | CA345997185 | APOB | c.7424C>T (p.Ala2475Val) c.5869+1289C>T (n.5869+1289C>T) | gnomAD v4 |
2 | g.21009444G>C | CA345997186 | APOB | c.7424C>G (p.Ala2475Gly) c.5869+1289C>G (n.5869+1289C>G) | ClinVar |
2 | g.21009444G>T | CA345997187 | APOB | c.7424C>A (p.Ala2475Asp) c.5869+1289C>A (n.5869+1289C>A) | |
2 | g.21009445C>A | CA345997189 | APOB | c.7423G>T (p.Ala2475Ser) c.5869+1288G>T (n.5869+1288G>T) | |
2 | g.21009445C>G | CA345997190 | APOB | c.7423G>C (p.Ala2475Pro) c.5869+1288G>C (n.5869+1288G>C) | |
2 | g.21009445C>T | CA345997188 | APOB | c.7423G>A (p.Ala2475Thr) c.5869+1288G>A (n.5869+1288G>A) | |
2 | g.21009446C>A | CA345997191 | APOB | c.7422G>T (p.Lys2474Asn) c.5869+1287G>T (n.5869+1287G>T) | |
2 | g.21009446C>G | CA345997192 | APOB | c.7422G>C (p.Lys2474Asn) c.5869+1287G>C (n.5869+1287G>C) | |
2 | g.21009446C>T | CA425345212 | APOB | c.7422G>A (p.Lys2474=) c.5869+1287G>A (n.5869+1287G>A) | |
2 | g.21009447T>A | CA345997193 | APOB | c.7421A>T (p.Lys2474Met) c.5869+1286A>T (n.5869+1286A>T) | |
2 | g.21009447T>C | CA345997194 | APOB | c.7421A>G (p.Lys2474Arg) c.5869+1286A>G (n.5869+1286A>G) | |
2 | g.21009447T>G | CA345997195 | APOB | c.7421A>C (p.Lys2474Thr) c.5869+1286A>C (n.5869+1286A>C) | |
2 | g.21009448T>A | CA345997196 | APOB | c.7420A>T (p.Lys2474Ter) c.5869+1285A>T (n.5869+1285A>T) | |
2 | g.21009448T>C | CA345997197 | APOB | c.7420A>G (p.Lys2474Glu) c.5869+1285A>G (n.5869+1285A>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009448T>G | CA345997198 | APOB | c.7420A>C (p.Lys2474Gln) c.5869+1285A>C (n.5869+1285A>C) | |
2 | g.21009448T= | CA2493476235 | APOB | c.7420A= (p.Lys2474=) c.5869+1285A= (n.5869+1285A=) | |
2 | g.21009449G>A | CA43502611 | APOB | c.7419C>T (p.Thr2473=) c.5869+1284C>T (n.5869+1284C>T) | ClinVar dbSNP |
2 | g.21009449G>C | CA425345214 | APOB | c.7419C>G (p.Thr2473=) c.5869+1284C>G (n.5869+1284C>G) | |
2 | g.21009449G= | CA2493476236 | APOB | c.7419C= (p.Thr2473=) c.5869+1284C= (n.5869+1284C=) | |
2 | g.21009449G>T | CA43502615 | APOB | c.7419C>A (p.Thr2473=) c.5869+1284C>A (n.5869+1284C>A) | ClinVar dbSNP gnomAD v4 |
2 | g.21009450G>A | CA345997199 | APOB | c.7418C>T (p.Thr2473Ile) c.5869+1283C>T (n.5869+1283C>T) | gnomAD v4 |
2 | g.21009450G>C | CA345997200 | APOB | c.7418C>G (p.Thr2473Ser) c.5869+1283C>G (n.5869+1283C>G) | |
2 | g.21009450G>T | CA345997201 | APOB | c.7418C>A (p.Thr2473Asn) c.5869+1283C>A (n.5869+1283C>A) | |
2 | g.21009451T>A | CA345997202 | APOB | c.7417A>T (p.Thr2473Ser) c.5869+1282A>T (n.5869+1282A>T) | ClinVar |
2 | g.21009451T>C | CA345997203 | APOB | c.7417A>G (p.Thr2473Ala) c.5869+1282A>G (n.5869+1282A>G) | |
2 | g.21009451T>G | CA345997204 | APOB | c.7417A>C (p.Thr2473Pro) c.5869+1282A>C (n.5869+1282A>C) | |
2 | g.21009452T>A | CA345997205 | APOB | c.7416A>T (p.Glu2472Asp) c.5869+1281A>T (n.5869+1281A>T) | |
2 | g.21009452T>C | CA425345219 | APOB | c.7416A>G (p.Glu2472=) c.5869+1281A>G (n.5869+1281A>G) | |
2 | g.21009452T>G | CA345997206 | APOB | c.7416A>C (p.Glu2472Asp) c.5869+1281A>C (n.5869+1281A>C) | |
2 | g.21009453T>A | CA345997207 | APOB | c.7415A>T (p.Glu2472Val) c.5869+1280A>T (n.5869+1280A>T) | |
2 | g.21009453T>C | CA345997208 | APOB | c.7415A>G (p.Glu2472Gly) c.5869+1280A>G (n.5869+1280A>G) | |
2 | g.21009453T>G | CA064415 | APOB | c.7415A>C (p.Glu2472Ala) c.5869+1280A>C (n.5869+1280A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009453T= | CA2493476237 | APOB | c.7415A= (p.Glu2472=) c.5869+1280A= (n.5869+1280A=) | |
2 | g.21009454C>A | CA064408 | APOB | c.7414G>T (p.Glu2472Ter) c.5869+1279G>T (n.5869+1279G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009454C= | CA2493476238 | APOB | c.7414G= (p.Glu2472=) c.5869+1279G= (n.5869+1279G=) | |
2 | g.21009454C>G | CA345997209 | APOB | c.7414G>C (p.Glu2472Gln) c.5869+1279G>C (n.5869+1279G>C) | |
2 | g.21009454C>T | CA345997210 | APOB | c.7414G>A (p.Glu2472Lys) c.5869+1279G>A (n.5869+1279G>A) | dbSNP COSMIC |
2 | g.21009455C>A | CA345997211 | APOB | c.7413G>T (p.Glu2471Asp) c.5869+1278G>T (n.5869+1278G>T) | |
2 | g.21009455C>G | CA345997212 | APOB | c.7413G>C (p.Glu2471Asp) c.5869+1278G>C (n.5869+1278G>C) | |
2 | g.21009455C>T | CA425345227 | APOB | c.7413G>A (p.Glu2471=) c.5869+1278G>A (n.5869+1278G>A) | COSMIC |
2 | g.21009456T>A | CA345997213 | APOB | c.7412A>T (p.Glu2471Val) c.5869+1277A>T (n.5869+1277A>T) | |
2 | g.21009456T>C | CA345997214 | APOB | c.7412A>G (p.Glu2471Gly) c.5869+1277A>G (n.5869+1277A>G) | |
2 | g.21009456T>G | CA345997215 | APOB | c.7412A>C (p.Glu2471Ala) c.5869+1277A>C (n.5869+1277A>C) | |
2 | g.21009457C>A | CA345997216 | APOB | c.7411G>T (p.Glu2471Ter) c.5869+1276G>T (n.5869+1276G>T) | |
2 | g.21009457C= | CA2493476239 | APOB | c.7411G= (p.Glu2471=) c.5869+1276G= (n.5869+1276G=) | |
2 | g.21009457C>G | CA43502629 | APOB | c.7411G>C (p.Glu2471Gln) c.5869+1276G>C (n.5869+1276G>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009457C>T | CA345997217 | APOB | c.7411G>A (p.Glu2471Lys) c.5869+1276G>A (n.5869+1276G>A) | gnomAD v4 |
2 | g.21009458T>A | CA345997219 | APOB | c.7410A>T (p.Leu2470Phe) c.5869+1275A>T (n.5869+1275A>T) | |
2 | g.21009458T>C | CA425345231 | APOB | c.7410A>G (p.Leu2470=) c.5869+1275A>G (n.5869+1275A>G) | |
2 | g.21009458T>G | CA345997218 | APOB | c.7410A>C (p.Leu2470Phe) c.5869+1275A>C (n.5869+1275A>C) | |
2 | g.21009459A= | CA2493476240 | APOB | c.7409T= (p.Leu2470=) c.5869+1274T= (n.5869+1274T=) | |
2 | g.21009459A>C | CA345997220 | APOB | c.7409T>G (p.Leu2470Ter) c.5869+1274T>G (n.5869+1274T>G) | |
2 | g.21009459A>G | CA064402 | APOB | c.7409T>C (p.Leu2470Ser) c.5869+1274T>C (n.5869+1274T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009459A>T | CA345997221 | APOB | c.7409T>A (p.Leu2470Ter) c.5869+1274T>A (n.5869+1274T>A) | |
2 | g.21009460A>C | CA345997222 | APOB | c.7408T>G (p.Leu2470Val) c.5869+1273T>G (n.5869+1273T>G) | |
2 | g.21009460A>G | CA425345236 | APOB | c.7408T>C (p.Leu2470=) c.5869+1273T>C (n.5869+1273T>C) | |
2 | g.21009460A>T | CA345997223 | APOB | c.7408T>A (p.Leu2470Ile) c.5869+1273T>A (n.5869+1273T>A) | |
2 | g.21009461A>C | CA345997224 | APOB | c.7407T>G (p.Phe2469Leu) c.5869+1272T>G (n.5869+1272T>G) | |
2 | g.21009461A>G | CA425345237 | APOB | c.7407T>C (p.Phe2469=) c.5869+1272T>C (n.5869+1272T>C) | |
2 | g.21009461A>T | CA345997225 | APOB | c.7407T>A (p.Phe2469Leu) c.5869+1272T>A (n.5869+1272T>A) | |
2 | g.21009462A= | CA2493476241 | APOB | c.7406T= (p.Phe2469=) c.5869+1271T= (n.5869+1271T=) | |
2 | g.21009462A>C | CA345997226 | APOB | c.7406T>G (p.Phe2469Cys) c.5869+1271T>G (n.5869+1271T>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009462A>G | CA345997227 | APOB | c.7406T>C (p.Phe2469Ser) c.5869+1271T>C (n.5869+1271T>C) | |
2 | g.21009462A>T | CA345997228 | APOB | c.7406T>A (p.Phe2469Tyr) c.5869+1271T>A (n.5869+1271T>A) | |
2 | g.21009463A= | CA2493476242 | APOB | c.7405T= (p.Phe2469=) c.5869+1270T= (n.5869+1270T=) | |
2 | g.21009463A>C | CA345997229 | APOB | c.7405T>G (p.Phe2469Val) c.5869+1270T>G (n.5869+1270T>G) | |
2 | g.21009463A>G | CA345997230 | APOB | c.7405T>C (p.Phe2469Leu) c.5869+1270T>C (n.5869+1270T>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009463A>T | CA064397 | APOB | c.7405T>A (p.Phe2469Ile) c.5869+1270T>A (n.5869+1270T>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009464_21009465del | CA2576686713 | APOB | c.7404_7405del (p.Leu2470ArgfsTer?) c.5869+1269_5869+1270del (n.5869+1269_5869+1270del) | |
2 | g.21009464C>A | CA425345241 | APOB | c.7404G>T (p.Leu2468=) c.5869+1269G>T (n.5869+1269G>T) | |
2 | g.21009464C= | CA2493476243 | APOB | c.7404G= (p.Leu2468=) c.5869+1269G= (n.5869+1269G=) | |
2 | g.21009464C>G | CA425345243 | APOB | c.7404G>C (p.Leu2468=) c.5869+1269G>C (n.5869+1269G>C) | |
2 | g.21009464C>T | CA064392 | APOB | c.7404G>A (p.Leu2468=) c.5869+1269G>A (n.5869+1269G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009464_21009465delinsCA | CA2493476244 | APOB | c.7403_7404delinsTG (p.Leu2468=) c.5869+1268_5869+1269delinsTG (n.5869+1268_5869+1269delinsTG) | |
2 | g.21009465del | CA1139655594 | APOB | c.7403del (p.Leu2468ArgfsTer3) c.5869+1268del (n.5869+1268del) | ClinVar dbSNP |
2 | g.21009465A= | CA2493476245 | APOB | c.7403T= (p.Leu2468=) c.5869+1268T= (n.5869+1268T=) | |
2 | g.21009465A>C | CA345997231 | APOB | c.7403T>G (p.Leu2468Arg) c.5869+1268T>G (n.5869+1268T>G) | |
2 | g.21009465A>G | CA345997232 | APOB | c.7403T>C (p.Leu2468Pro) c.5869+1268T>C (n.5869+1268T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.21009465A>T | CA345997233 | APOB | c.7403T>A (p.Leu2468Gln) c.5869+1268T>A (n.5869+1268T>A) | |
2 | g.21009466G>A | CA425345244 | APOB | c.7402C>T (p.Leu2468=) c.5869+1267C>T (n.5869+1267C>T) | |
2 | g.21009466G>C | CA345997235 | APOB | c.7402C>G (p.Leu2468Val) c.5869+1267C>G (n.5869+1267C>G) | gnomAD v4 |
2 | g.21009466G>T | CA345997234 | APOB | c.7402C>A (p.Leu2468Met) c.5869+1267C>A (n.5869+1267C>A) | |
2 | g.21009467T>A | CA345997236 | APOB | c.7401A>T (p.Lys2467Asn) c.5869+1266A>T (n.5869+1266A>T) | |
2 | g.21009467T>C | CA425345246 | APOB | c.7401A>G (p.Lys2467=) c.5869+1266A>G (n.5869+1266A>G) | |
2 | g.21009467T>G | CA345997237 | APOB | c.7401A>C (p.Lys2467Asn) c.5869+1266A>C (n.5869+1266A>C) | |
2 | g.21009468T>A | CA345997238 | APOB | c.7400A>T (p.Lys2467Ile) c.5869+1265A>T (n.5869+1265A>T) | |
2 | g.21009468T>C | CA345997239 | APOB | c.7400A>G (p.Lys2467Arg) c.5869+1265A>G (n.5869+1265A>G) | |
2 | g.21009468T>G | CA064385 | APOB | c.7400A>C (p.Lys2467Thr) c.5869+1265A>C (n.5869+1265A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009468T= | CA2493476246 | APOB | c.7400A= (p.Lys2467=) c.5869+1265A= (n.5869+1265A=) | |
2 | g.21009469T>A | CA345997240 | APOB | c.7399A>T (p.Lys2467Ter) c.5869+1264A>T (n.5869+1264A>T) | |
2 | g.21009469T>C | CA345997241 | APOB | c.7399A>G (p.Lys2467Glu) c.5869+1264A>G (n.5869+1264A>G) | |
2 | g.21009469T>G | CA345997242 | APOB | c.7399A>C (p.Lys2467Gln) c.5869+1264A>C (n.5869+1264A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.21009469T= | CA2493476247 | APOB | c.7399A= (p.Lys2467=) c.5869+1264A= (n.5869+1264A=) | |
2 | g.21009470T>A | CA345997243 | APOB | c.7398A>T (p.Leu2466Phe) c.5869+1263A>T (n.5869+1263A>T) | |
2 | g.21009470T>C | CA064376 | APOB | c.7398A>G (p.Leu2466=) c.5869+1263A>G (n.5869+1263A>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.21009470T>G | CA345997244 | APOB | c.7398A>C (p.Leu2466Phe) c.5869+1263A>C (n.5869+1263A>C) | |
2 | g.21009470T= | CA2493476248 | APOB | c.7398A= (p.Leu2466=) c.5869+1263A= (n.5869+1263A=) | |
2 | g.21009471A>C | CA345997247 | APOB | c.7397T>G (p.Leu2466Ter) c.5869+1262T>G (n.5869+1262T>G) | |
2 | g.21009471A>G | CA345997246 | APOB | c.7397T>C (p.Leu2466Ser) c.5869+1262T>C (n.5869+1262T>C) | |
2 | g.21009471A>T | CA345997245 | APOB | c.7397T>A (p.Leu2466Ter) c.5869+1262T>A (n.5869+1262T>A) | |
2 | g.21009472del | CA2658056030 | APOB | c.7397del (p.Leu2466Ter) c.5869+1262del (n.5869+1262del) | gnomAD v4 |
2 | g.21009472A= | CA2493476249 | APOB | c.7396T= (p.Leu2466=) c.5869+1261T= (n.5869+1261T=) | |
2 | g.21009472A>C | CA345997248 | APOB | c.7396T>G (p.Leu2466Val) c.5869+1261T>G (n.5869+1261T>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.21009472A>G | CA425345250 | APOB | c.7396T>C (p.Leu2466=) c.5869+1261T>C (n.5869+1261T>C) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.21009472A>T | CA345997249 | APOB | c.7396T>A (p.Leu2466Ile) c.5869+1261T>A (n.5869+1261T>A) | |
2 | g.21009473T>A | CA425345254 | APOB | c.7395A>T (p.Ala2465=) c.5869+1260A>T (n.5869+1260A>T) | |
2 | g.21009473T>C | CA425345255 | APOB | c.7395A>G (p.Ala2465=) c.5869+1260A>G (n.5869+1260A>G) | gnomAD v4 |
2 | g.21009473T>G | CA425345256 | APOB | c.7395A>C (p.Ala2465=) c.5869+1260A>C (n.5869+1260A>C) | |
2 | g.21009474G>A | CA345997250 | APOB | c.7394C>T (p.Ala2465Val) c.5869+1259C>T (n.5869+1259C>T) | gnomAD v4 |
2 | g.21009474G>C | CA345997251 | APOB | c.7394C>G (p.Ala2465Gly) c.5869+1259C>G (n.5869+1259C>G) | |
2 | g.21009474G>T | CA345997252 | APOB | c.7394C>A (p.Ala2465Glu) c.5869+1259C>A (n.5869+1259C>A) | |
2 | g.21009475C>A | CA345997253 | APOB | c.7393G>T (p.Ala2465Ser) c.5869+1258G>T (n.5869+1258G>T) | |
2 | g.21009475C>G | CA345997254 | APOB | c.7393G>C (p.Ala2465Pro) c.5869+1258G>C (n.5869+1258G>C) | |
2 | g.21009475C>T | CA345997255 | APOB | c.7393G>A (p.Ala2465Thr) c.5869+1258G>A (n.5869+1258G>A) | gnomAD v4 |
2 | g.21009476T>A | CA345997256 | APOB | c.7392A>T (p.Glu2464Asp) c.5869+1257A>T (n.5869+1257A>T) | |
2 | g.21009476T>C | CA425345258 | APOB | c.7392A>G (p.Glu2464=) c.5869+1257A>G (n.5869+1257A>G) | |
2 | g.21009476T>G | CA345997257 | APOB | c.7392A>C (p.Glu2464Asp) c.5869+1257A>C (n.5869+1257A>C) | |
2 | g.21009477T>A | CA345997258 | APOB | c.7391A>T (p.Glu2464Val) c.5869+1256A>T (n.5869+1256A>T) | |
2 | g.21009477T>C | CA345997259 | APOB | c.7391A>G (p.Glu2464Gly) c.5869+1256A>G (n.5869+1256A>G) | dbSNP |
2 | g.21009477T>G | CA345997260 | APOB | c.7391A>C (p.Glu2464Ala) c.5869+1256A>C (n.5869+1256A>C) | |
2 | g.21009477T= | CA2493476250 | APOB | c.7391A= (p.Glu2464=) c.5869+1256A= (n.5869+1256A=) |