Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.11100222_11107515del | CA658824387 | LDLR | c.326-1_1198+1del c.68-1_940+1del c.322-1_1194+1del c.68-1_436+1del c.68-1_817+1del c.68-1_559+1del n.218-1_1090+1del n.185-1_1057+1del | ClinVar |
19 | g.11101932_11106610del | CA1139666288 | LDLR | c.449-732_998del c.191-732_740del c.445-732_994del c.191-732_314-782del c.190+1587_617del c.191-732_359del n.341-732_890del n.308-732_857del | ClinVar |
19 | g.11102141_11108134del | CA2573050561 | LDLR | c.449-523_1198+620del c.191-523_940+620del c.445-523_1194+620del c.191-523_436+620del c.190+1796_817+620del c.191-523_559+620del n.341-523_1090+620del n.308-523_1057+620del | |
19 | g.11102152_11108145del | CA10584784 | LDLR | c.449-512_1198+631del c.191-512_940+631del c.445-512_1194+631del c.191-512_436+631del c.190+1807_817+631del c.191-512_559+631del n.341-512_1090+631del n.308-512_1057+631del | ClinVar |
19 | g.11102477_11108484del | CA2573050562 | LDLR | c.449-187_1198+970del c.191-187_940+970del c.445-187_1194+970del c.191-187_436+970del c.190+2132_817+970del c.191-187_559+970del n.341-187_1090+970del n.308-187_1057+970del | |
19 | g.11102664_11105600del | CA2580061394 | LDLR | c.449_952del c.191_694del c.445_948del c.191_314-1792del c.190+2319_571del c.191_314-965del n.341_844del n.308_811del | |
19 | g.11102664_11106687del | CA10584788 | LDLR | c.449_1075del c.191_817del c.445_1071del c.191_314-705del c.190+2319_694del c.191_436del n.341_967del n.308_934del | |
19 | g.11102663_11107515del | CA658824388 | LDLR | c.449-1_1198+1del c.191-1_940+1del c.445-1_1194+1del c.191-1_436+1del c.190+2318_817+1del c.191-1_559+1del n.341-1_1090+1del n.308-1_1057+1del | ClinVar |
19 | g.11102785_11107393del | CA916084172 | LDLR | c.570_1077del c.312_819del c.566_1073del c.312_315del c.191-2435_696del c.312_438del n.462_969del n.429_936del | |
19 | g.11104109_11109216del | CA2573050567 | LDLR | c.572-1111_1199-1436del c.314-1111_941-1436del c.314-1111_940+1702del c.568-1111_1195-1436del c.313+1323_437-1436del c.191-1111_818-1436del c.313+1323_560-1436del n.464-1111_1091-1436del n.431-1111_1058-1436del | |
19 | g.11104774_11112892dup | CA2580612594 | LDLR | c.572-446_1445-386dup c.314-446_1187-386dup c.314-446_1067-386dup c.568-446_1441-386dup c.313+1988_683-386dup c.191-446_1064-386dup c.314-1791_806-386dup n.464-446_1337-386dup n.431-446_1304-386dup | |
19 | g.11105158_11111699dup | CA2580612596 | LDLR | c.572-62_1444+60dup c.314-62_1186+60dup c.314-62_1066+60dup c.568-62_1440+60dup c.314-2234_682+60dup c.191-62_1063+60dup c.314-1407_805+60dup n.464-62_1336+60dup n.431-62_1303+60dup | |
19 | g.11105170_11111689dup | CA2580612597 | LDLR | c.572-50_1444+50dup c.314-50_1186+50dup c.314-50_1066+50dup c.568-50_1440+50dup c.314-2222_682+50dup c.191-50_1063+50dup c.314-1395_805+50dup n.464-50_1336+50dup n.431-50_1303+50dup | |
19 | g.11105198C>A | CA2840305514 | LDLR | c.572-22C>A (n.572-22C>A) c.314-22C>A (n.314-22C>A) c.568-22C>A c.314-2194C>A (n.314-2194C>A) c.191-22C>A (n.191-22C>A) c.314-1367C>A (n.314-1367C>A) n.464-22C>A n.431-22C>A | |
19 | g.11105198C>G | CA657549250 | LDLR | c.572-22C>G (n.572-22C>G) c.314-22C>G (n.314-22C>G) c.568-22C>G c.314-2194C>G (n.314-2194C>G) c.191-22C>G (n.191-22C>G) c.314-1367C>G (n.314-1367C>G) n.464-22C>G n.431-22C>G | COSMIC |
19 | g.11105199T>C | CA632115388 | LDLR | c.572-21T>C (n.572-21T>C) c.314-21T>C (n.314-21T>C) c.568-21T>C c.314-2193T>C (n.314-2193T>C) c.191-21T>C (n.191-21T>C) c.314-1366T>C (n.314-1366T>C) n.464-21T>C n.431-21T>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105199T= | CA2322767254 | LDLR | c.572-21T= (n.572-21T=) c.314-21T= (n.314-21T=) c.568-21T= c.314-2193T= (n.314-2193T=) c.191-21T= (n.191-21T=) c.314-1366T= (n.314-1366T=) n.464-21T= n.431-21T= | |
19 | g.11105200C>A | CA2840305515 | LDLR | c.572-20C>A (n.572-20C>A) c.314-20C>A (n.314-20C>A) c.568-20C>A c.314-2192C>A (n.314-2192C>A) c.191-20C>A (n.191-20C>A) c.314-1365C>A (n.314-1365C>A) n.464-20C>A n.431-20C>A | |
19 | g.11105200C= | CA2322767255 | LDLR | c.572-20C= (n.572-20C=) c.314-20C= (n.314-20C=) c.568-20C= c.314-2192C= (n.314-2192C=) c.191-20C= (n.191-20C=) c.314-1365C= (n.314-1365C=) n.464-20C= n.431-20C= | |
19 | g.11105200C>T | CA042964 | LDLR | c.572-20C>T (n.572-20C>T) c.314-20C>T (n.314-20C>T) c.568-20C>T c.314-2192C>T (n.314-2192C>T) c.191-20C>T (n.191-20C>T) c.314-1365C>T (n.314-1365C>T) n.464-20C>T n.431-20C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105201G>A | CA042958 | LDLR | c.572-19G>A (n.572-19G>A) c.314-19G>A (n.314-19G>A) c.568-19G>A c.314-2191G>A (n.314-2191G>A) c.191-19G>A (n.191-19G>A) c.314-1364G>A (n.314-1364G>A) n.464-19G>A n.431-19G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105201G= | CA2322767256 | LDLR | c.572-19G= (n.572-19G=) c.314-19G= (n.314-19G=) c.568-19G= c.314-2191G= (n.314-2191G=) c.191-19G= (n.191-19G=) c.314-1364G= (n.314-1364G=) n.464-19G= n.431-19G= | |
19 | g.11105201G>T | CA2576626008 | LDLR | c.572-19G>T (n.572-19G>T) c.314-19G>T (n.314-19G>T) c.568-19G>T c.314-2191G>T (n.314-2191G>T) c.191-19G>T (n.191-19G>T) c.314-1364G>T (n.314-1364G>T) n.464-19G>T n.431-19G>T | gnomAD v4 |
19 | g.11105202G>A | CA783241222 | LDLR | c.572-18G>A (n.572-18G>A) c.314-18G>A (n.314-18G>A) c.568-18G>A c.314-2190G>A (n.314-2190G>A) c.191-18G>A (n.191-18G>A) c.314-1363G>A (n.314-1363G>A) n.464-18G>A n.431-18G>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105202G= | CA2322767257 | LDLR | c.572-18G= (n.572-18G=) c.314-18G= (n.314-18G=) c.568-18G= c.314-2190G= (n.314-2190G=) c.191-18G= (n.191-18G=) c.314-1363G= (n.314-1363G=) n.464-18G= n.431-18G= | |
19 | g.11105207_11105225del | CA2830763874 | LDLR | c.572-13_577del c.314-13_319del c.568-13_573del c.314-2185_314-2167del (n.314-2185_314-2167del) c.191-13_196del c.314-1358_314-1340del (n.314-1358_314-1340del) n.464-13_469del n.431-13_436del | |
19 | g.11105204C= | CA2322767258 | LDLR | c.572-16C= (n.572-16C=) c.314-16C= (n.314-16C=) c.568-16C= c.314-2188C= (n.314-2188C=) c.191-16C= (n.191-16C=) c.314-1361C= (n.314-1361C=) n.464-16C= n.431-16C= | |
19 | g.11105204C>G | CA042944 | LDLR | c.572-16C>G (n.572-16C>G) c.314-16C>G (n.314-16C>G) c.568-16C>G c.314-2188C>G (n.314-2188C>G) c.191-16C>G (n.191-16C>G) c.314-1361C>G (n.314-1361C>G) n.464-16C>G n.431-16C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105205C= | CA2322767259 | LDLR | c.572-15C= (n.572-15C=) c.314-15C= (n.314-15C=) c.568-15C= c.314-2187C= (n.314-2187C=) c.191-15C= (n.191-15C=) c.314-1360C= (n.314-1360C=) n.464-15C= n.431-15C= | |
19 | g.11105205C>T | CA632115389 | LDLR | c.572-15C>T (n.572-15C>T) c.314-15C>T (n.314-15C>T) c.568-15C>T c.314-2187C>T (n.314-2187C>T) c.191-15C>T (n.191-15C>T) c.314-1360C>T (n.314-1360C>T) n.464-15C>T n.431-15C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105207del | CA2582473393 | LDLR | c.572-13del (n.572-13del) c.314-13del (n.314-13del) c.568-13del c.314-2185del (n.314-2185del) c.191-13del (n.191-13del) c.314-1358del (n.314-1358del) n.464-13del n.431-13del | gnomAD v4 |
19 | g.11105207T>A | CA2840305516 | LDLR | c.572-13T>A (n.572-13T>A) c.314-13T>A (n.314-13T>A) c.568-13T>A c.314-2185T>A (n.314-2185T>A) c.191-13T>A (n.191-13T>A) c.314-1358T>A (n.314-1358T>A) n.464-13T>A n.431-13T>A | |
19 | g.11105207T>C | CA2839540866 | LDLR | c.572-13T>C (n.572-13T>C) c.314-13T>C (n.314-13T>C) c.568-13T>C c.314-2185T>C (n.314-2185T>C) c.191-13T>C (n.191-13T>C) c.314-1358T>C (n.314-1358T>C) n.464-13T>C n.431-13T>C | |
19 | g.11105208C>A | CA2576626011 | LDLR | c.572-12C>A (n.572-12C>A) c.314-12C>A (n.314-12C>A) c.568-12C>A c.314-2184C>A (n.314-2184C>A) c.191-12C>A (n.191-12C>A) c.314-1357C>A (n.314-1357C>A) n.464-12C>A n.431-12C>A | ClinVar |
19 | g.11105208C= | CA2322767260 | LDLR | c.572-12C= (n.572-12C=) c.314-12C= (n.314-12C=) c.568-12C= c.314-2184C= (n.314-2184C=) c.191-12C= (n.191-12C=) c.314-1357C= (n.314-1357C=) n.464-12C= n.431-12C= | |
19 | g.11105208C>G | CA2739276480 | LDLR | c.572-12C>G (n.572-12C>G) c.314-12C>G (n.314-12C>G) c.568-12C>G c.314-2184C>G (n.314-2184C>G) c.191-12C>G (n.191-12C>G) c.314-1357C>G (n.314-1357C>G) n.464-12C>G n.431-12C>G | ClinVar |
19 | g.11105208C>T | CA632115390 | LDLR | c.572-12C>T (n.572-12C>T) c.314-12C>T (n.314-12C>T) c.568-12C>T c.314-2184C>T (n.314-2184C>T) c.191-12C>T (n.191-12C>T) c.314-1357C>T (n.314-1357C>T) n.464-12C>T n.431-12C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105209C>T | CA2582473394 | LDLR | c.572-11C>T (n.572-11C>T) c.314-11C>T (n.314-11C>T) c.568-11C>T c.314-2183C>T (n.314-2183C>T) c.191-11C>T (n.191-11C>T) c.314-1356C>T (n.314-1356C>T) n.464-11C>T n.431-11C>T | gnomAD v4 |
19 | g.11105210A= | CA2322767261 | LDLR | c.572-10A= (n.572-10A=) c.314-10A= (n.314-10A=) c.568-10A= c.314-2182A= (n.314-2182A=) c.191-10A= (n.191-10A=) c.314-1355A= (n.314-1355A=) n.464-10A= n.431-10A= | |
19 | g.11105210A>G | CA2580096407 | LDLR | c.572-10A>G (n.572-10A>G) c.314-10A>G (n.314-10A>G) c.568-10A>G c.314-2182A>G (n.314-2182A>G) c.191-10A>G (n.191-10A>G) c.314-1355A>G (n.314-1355A>G) n.464-10A>G n.431-10A>G | ClinVar |
19 | g.11105210A>T | CA042932 | LDLR | c.572-10A>T (n.572-10A>T) c.314-10A>T (n.314-10A>T) c.568-10A>T c.314-2182A>T (n.314-2182A>T) c.191-10A>T (n.191-10A>T) c.314-1355A>T (n.314-1355A>T) n.464-10A>T n.431-10A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105211T>A | CA305296719 | LDLR | c.572-9T>A (n.572-9T>A) c.314-9T>A (n.314-9T>A) c.568-9T>A c.314-2181T>A (n.314-2181T>A) c.191-9T>A (n.191-9T>A) c.314-1354T>A (n.314-1354T>A) n.464-9T>A n.431-9T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105211T= | CA2322767262 | LDLR | c.572-9T= (n.572-9T=) c.314-9T= (n.314-9T=) c.568-9T= c.314-2181T= (n.314-2181T=) c.191-9T= (n.191-9T=) c.314-1354T= (n.314-1354T=) n.464-9T= n.431-9T= | |
19 | g.11105212C>T | CA2582473396 | LDLR | c.572-8C>T (n.572-8C>T) c.314-8C>T (n.314-8C>T) c.568-8C>T c.314-2180C>T (n.314-2180C>T) c.191-8C>T (n.191-8C>T) c.314-1353C>T (n.314-1353C>T) n.464-8C>T n.431-8C>T | gnomAD v4 |
19 | g.11105213C>A | CA2813598995 | LDLR | c.572-7C>A (n.572-7C>A) c.314-7C>A (n.314-7C>A) c.568-7C>A c.314-2179C>A (n.314-2179C>A) c.191-7C>A (n.191-7C>A) c.314-1352C>A (n.314-1352C>A) n.464-7C>A n.431-7C>A | |
19 | g.11105213C= | CA2322767263 | LDLR | c.572-7C= (n.572-7C=) c.314-7C= (n.314-7C=) c.568-7C= c.314-2179C= (n.314-2179C=) c.191-7C= (n.191-7C=) c.314-1352C= (n.314-1352C=) n.464-7C= n.431-7C= | |
19 | g.11105213C>T | CA632115391 | LDLR | c.572-7C>T (n.572-7C>T) c.314-7C>T (n.314-7C>T) c.568-7C>T c.314-2179C>T (n.314-2179C>T) c.191-7C>T (n.191-7C>T) c.314-1352C>T (n.314-1352C>T) n.464-7C>T n.431-7C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105214C>G | CA2573054700 | LDLR | c.572-6C>G (n.572-6C>G) c.314-6C>G (n.314-6C>G) c.568-6C>G c.314-2178C>G (n.314-2178C>G) c.191-6C>G (n.191-6C>G) c.314-1351C>G (n.314-1351C>G) n.464-6C>G n.431-6C>G | ClinVar dbSNP |
19 | g.11105214C>T | CA2499225309 | LDLR | c.572-6C>T (n.572-6C>T) c.314-6C>T (n.314-6C>T) c.568-6C>T c.314-2178C>T (n.314-2178C>T) c.191-6C>T (n.191-6C>T) c.314-1351C>T (n.314-1351C>T) n.464-6C>T n.431-6C>T | ClinVar dbSNP |
19 | g.11105215T>A | CA2838225236 | LDLR | c.572-5T>A (n.572-5T>A) c.314-5T>A (n.314-5T>A) c.568-5T>A c.314-2177T>A (n.314-2177T>A) c.191-5T>A (n.191-5T>A) c.314-1350T>A (n.314-1350T>A) n.464-5T>A n.431-5T>A | |
19 | g.11105215T>C | CA043036 | LDLR | c.572-5T>C (n.572-5T>C) c.314-5T>C (n.314-5T>C) c.568-5T>C c.314-2177T>C (n.314-2177T>C) c.191-5T>C (n.191-5T>C) c.314-1350T>C (n.314-1350T>C) n.464-5T>C n.431-5T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105215T>G | CA632115392 | LDLR | c.572-5T>G (n.572-5T>G) c.314-5T>G (n.314-5T>G) c.568-5T>G c.314-2177T>G (n.314-2177T>G) c.191-5T>G (n.191-5T>G) c.314-1350T>G (n.314-1350T>G) n.464-5T>G n.431-5T>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105215T= | CA2322767264 | LDLR | c.572-5T= (n.572-5T=) c.314-5T= (n.314-5T=) c.568-5T= c.314-2177T= (n.314-2177T=) c.191-5T= (n.191-5T=) c.314-1350T= (n.314-1350T=) n.464-5T= n.431-5T= | |
19 | g.11105216G>A | CA305296721 | LDLR | c.572-4G>A (n.572-4G>A) c.314-4G>A (n.314-4G>A) c.568-4G>A c.314-2176G>A (n.314-2176G>A) c.191-4G>A (n.191-4G>A) c.314-1349G>A (n.314-1349G>A) n.464-4G>A n.431-4G>A | dbSNP |
19 | g.11105216G= | CA2322767265 | LDLR | c.572-4G= (n.572-4G=) c.314-4G= (n.314-4G=) c.568-4G= c.314-2176G= (n.314-2176G=) c.191-4G= (n.191-4G=) c.314-1349G= (n.314-1349G=) n.464-4G= n.431-4G= | |
19 | g.11105216G>T | CA2582473398 | LDLR | c.572-4G>T (n.572-4G>T) c.314-4G>T (n.314-4G>T) c.568-4G>T c.314-2176G>T (n.314-2176G>T) c.191-4G>T (n.191-4G>T) c.314-1349G>T (n.314-1349G>T) n.464-4G>T n.431-4G>T | ClinVar gnomAD v4 |
19 | g.11105217C>A | CA632115393 | LDLR | c.572-3C>A (n.572-3C>A) c.314-3C>A (n.314-3C>A) c.568-3C>A c.314-2175C>A (n.314-2175C>A) c.191-3C>A (n.191-3C>A) c.314-1348C>A (n.314-1348C>A) n.464-3C>A n.431-3C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105217C= | CA2322767266 | LDLR | c.572-3C= (n.572-3C=) c.314-3C= (n.314-3C=) c.568-3C= c.314-2175C= (n.314-2175C=) c.191-3C= (n.191-3C=) c.314-1348C= (n.314-1348C=) n.464-3C= n.431-3C= | |
19 | g.11105217C>T | CA10584847 | LDLR | c.572-3C>T (n.572-3C>T) c.314-3C>T (n.314-3C>T) c.568-3C>T c.314-2175C>T (n.314-2175C>T) c.191-3C>T (n.191-3C>T) c.314-1348C>T (n.314-1348C>T) n.464-3C>T n.431-3C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105218_11105223dup | CA2741611832 | LDLR | c.572-2_575dup c.314-2_317dup c.568-2_571dup c.314-2174_314-2169dup (n.314-2174_314-2169dup) c.191-2_194dup c.314-1347_314-1342dup (n.314-1347_314-1342dup) n.464-2_467dup n.431-2_434dup | |
19 | g.11105218A= | CA2322767267 | LDLR | c.572-2A= (n.572-2A=) c.314-2A= (n.314-2A=) c.568-2A= c.314-2174A= (n.314-2174A=) c.191-2A= (n.191-2A=) c.314-1347A= (n.314-1347A=) n.464-2A= n.431-2A= | |
19 | g.11105218A>C | CA10584848 | LDLR | c.572-2A>C (n.572-2A>C) c.314-2A>C (n.314-2A>C) c.568-2A>C c.314-2174A>C (n.314-2174A>C) c.191-2A>C (n.191-2A>C) c.314-1347A>C (n.314-1347A>C) n.464-2A>C n.431-2A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105218A>G | CA404076200 | LDLR | c.572-2A>G (n.572-2A>G) c.314-2A>G (n.314-2A>G) c.568-2A>G c.314-2174A>G (n.314-2174A>G) c.191-2A>G (n.191-2A>G) c.314-1347A>G (n.314-1347A>G) n.464-2A>G n.431-2A>G | ClinVar |
19 | g.11105218A>T | CA16602296 | LDLR | c.572-2A>T (n.572-2A>T) c.314-2A>T (n.314-2A>T) c.568-2A>T c.314-2174A>T (n.314-2174A>T) c.191-2A>T (n.191-2A>T) c.314-1347A>T (n.314-1347A>T) n.464-2A>T n.431-2A>T | ClinVar dbSNP |
19 | g.11105219del | CA2497030185 | LDLR | c.572-1del (n.572-1del) c.314-1del (n.314-1del) c.568-1del c.314-2173del (n.314-2173del) c.191-1del (n.191-1del) c.314-1346del (n.314-1346del) n.464-1del n.431-1del | |
19 | g.11105219G>A | CA10584849 | LDLR | c.572-1G>A (n.572-1G>A) c.314-1G>A (n.314-1G>A) c.568-1G>A c.314-2173G>A (n.314-2173G>A) c.191-1G>A (n.191-1G>A) c.314-1346G>A (n.314-1346G>A) n.464-1G>A n.431-1G>A | ClinVar dbSNP |
19 | g.11105219G>C | CA404076201 | LDLR | c.572-1G>C (n.572-1G>C) c.314-1G>C (n.314-1G>C) c.568-1G>C c.314-2173G>C (n.314-2173G>C) c.191-1G>C (n.191-1G>C) c.314-1346G>C (n.314-1346G>C) n.464-1G>C n.431-1G>C | COSMIC |
19 | g.11105219G= | CA2322767269 | LDLR | c.572-1G= (n.572-1G=) c.314-1G= (n.314-1G=) c.568-1G= c.314-2173G= (n.314-2173G=) c.191-1G= (n.191-1G=) c.314-1346G= (n.314-1346G=) n.464-1G= n.431-1G= | |
19 | g.11105219G>T | CA404076202 | LDLR | c.572-1G>T (n.572-1G>T) c.314-1G>T (n.314-1G>T) c.568-1G>T c.314-2173G>T (n.314-2173G>T) c.191-1G>T (n.191-1G>T) c.314-1346G>T (n.314-1346G>T) n.464-1G>T n.431-1G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105219_11105220delinsGC | CA2322767268 | LDLR | c.572-1_572delinsGC c.314-1_314delinsGC c.568-1_568delinsGC c.314-2173_314-2172delinsGC (n.314-2173_314-2172delinsGC) c.191-1_191delinsGC c.314-1346_314-1345delinsGC (n.314-1346_314-1345delinsGC) n.464-1_464delinsGC n.431-1_431delinsGC | |
19 | g.11105220C>A | CA404076203 | LDLR | c.572C>A (p.Pro191His) c.314C>A (p.Pro105His) c.568C>A c.314-2172C>A (n.314-2172C>A) c.191C>A (p.Ser64Tyr) c.314-1345C>A (n.314-1345C>A) n.464C>A n.431C>A | |
19 | g.11105220C= | CA2322767271 | LDLR | c.572C= (p.Pro191=) c.314C= (p.Pro105=) c.568C= c.314-2172C= (n.314-2172C=) c.191C= (p.Ser64=) c.314-1345C= (n.314-1345C=) n.464C= n.431C= | |
19 | g.11105220C>G | CA404076204 | LDLR | c.572C>G (p.Pro191Arg) c.314C>G (p.Pro105Arg) c.568C>G c.314-2172C>G (n.314-2172C>G) c.191C>G (p.Ser64Cys) c.314-1345C>G (n.314-1345C>G) n.464C>G n.431C>G | |
19 | g.11105220C>T | CA023692 | LDLR | c.572C>T (p.Pro191Leu) c.314C>T (p.Pro105Leu) c.568C>T c.314-2172C>T (n.314-2172C>T) c.191C>T (p.Ser64Phe) c.314-1345C>T (n.314-1345C>T) n.464C>T n.431C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105224dup | CA10584851 | LDLR | c.576dup (p.Lys193GlnfsTer23) c.318dup (p.Lys107GlnfsTer23) c.572dup c.314-2168dup (n.314-2168dup) c.195dup (p.Lys66GlnfsTer23) c.314-1341dup (n.314-1341dup) n.468dup n.435dup | ClinVar dbSNP |
19 | g.11105224del | CA10576278 | LDLR | c.576del (p.Lys193ArgfsTer?) c.318del (p.Lys107ArgfsTer?) c.572del c.314-2168del (n.314-2168del) c.195del (p.Lys66ArgfsTer?) c.314-1341del (n.314-1341del) n.468del n.435del | ClinVar dbSNP gnomAD v4 |
19 | g.11105220_11105241delinsCCCCCAAGACGTGCTCCCAGGA | CA2322767270 | LDLR | c.572_593delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro191=) c.314_335delinsCCCCCAAGACGTGCTCCCAGGA (p.Pro105=) c.568_589delinsCCCCCAAGACGTGCTCCCAGGA c.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA (n.314-2172_314-2151delinsCCCCCAAGACGTGCTCCCAGGA) c.191_212delinsCCCCCAAGACGTGCTCCCAGGA (p.Ser64=) c.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA (n.314-1345_314-1324delinsCCCCCAAGACGTGCTCCCAGGA) n.464_485delinsCCCCCAAGACGTGCTCCCAGGA n.431_452delinsCCCCCAAGACGTGCTCCCAGGA | |
19 | g.11105221C>A | CA505742123 | LDLR | c.573C>A (p.Pro191=) c.315C>A (p.Pro105=) c.569C>A c.314-2171C>A (n.314-2171C>A) c.192C>A (p.Ser64=) c.314-1344C>A (n.314-1344C>A) n.465C>A n.432C>A | |
19 | g.11105221C>G | CA505742124 | LDLR | c.573C>G (p.Pro191=) c.315C>G (p.Pro105=) c.569C>G c.314-2171C>G (n.314-2171C>G) c.192C>G (p.Ser64=) c.314-1344C>G (n.314-1344C>G) n.465C>G n.432C>G | |
19 | g.11105221C>T | CA505742125 | LDLR | c.573C>T (p.Pro191=) c.315C>T (p.Pro105=) c.569C>T c.314-2171C>T (n.314-2171C>T) c.192C>T (p.Ser64=) c.314-1344C>T (n.314-1344C>T) n.465C>T n.432C>T | gnomAD v4 |
19 | g.11105221_11105234delinsCCCCAAGACGTGCT | CA2322767272 | LDLR | c.573_586delinsCCCCAAGACGTGCT (p.Pro191=) c.315_328delinsCCCCAAGACGTGCT (p.Pro105=) c.569_582delinsCCCCAAGACGTGCT c.314-2171_314-2158delinsCCCCAAGACGTGCT (n.314-2171_314-2158delinsCCCCAAGACGTGCT) c.192_205delinsCCCCAAGACGTGCT (p.Ser64=) c.314-1344_314-1331delinsCCCCAAGACGTGCT (n.314-1344_314-1331delinsCCCCAAGACGTGCT) n.465_478delinsCCCCAAGACGTGCT n.432_445delinsCCCCAAGACGTGCT | |
19 | g.11105222_11105242del | CA10584850 | LDLR | c.574_594del (p.Pro192_Asp198del) c.316_336del (p.Pro106_Asp112del) c.570_590del c.314-2170_314-2150del (n.314-2170_314-2150del) c.193_213del (p.Pro65_Asp71del) c.314-1343_314-1323del (n.314-1343_314-1323del) n.466_486del n.433_453del | ClinVar dbSNP |
19 | g.11105222C>A | CA404076205 | LDLR | c.574C>A (p.Pro192Thr) c.316C>A (p.Pro106Thr) c.570C>A c.314-2170C>A (n.314-2170C>A) c.193C>A (p.Pro65Thr) c.314-1343C>A (n.314-1343C>A) n.466C>A n.433C>A | |
19 | g.11105222C>G | CA404076206 | LDLR | c.574C>G (p.Pro192Ala) c.316C>G (p.Pro106Ala) c.570C>G c.314-2170C>G (n.314-2170C>G) c.193C>G (p.Pro65Ala) c.314-1343C>G (n.314-1343C>G) n.466C>G n.433C>G | |
19 | g.11105222C>T | CA404076207 | LDLR | c.574C>T (p.Pro192Ser) c.316C>T (p.Pro106Ser) c.570C>T c.314-2170C>T (n.314-2170C>T) c.193C>T (p.Pro65Ser) c.314-1343C>T (n.314-1343C>T) n.466C>T n.433C>T | |
19 | g.11105226_11105238del | CA10584852 | LDLR | c.578_590del (p.Lys193ArgfsTer?) c.320_332del (p.Lys107ArgfsTer?) c.574_586del c.314-2166_314-2154del (n.314-2166_314-2154del) c.197_209del (p.Lys66ArgfsTer?) c.314-1339_314-1327del (n.314-1339_314-1327del) n.470_482del n.437_449del | ClinVar dbSNP |
19 | g.11105222_11105241delinsCCCAAGACGTGCTCCCAGGA | CA2322767273 | LDLR | c.574_593delinsCCCAAGACGTGCTCCCAGGA (p.Pro192=) c.316_335delinsCCCAAGACGTGCTCCCAGGA (p.Pro106=) c.570_589delinsCCCAAGACGTGCTCCCAGGA c.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA (n.314-2170_314-2151delinsCCCAAGACGTGCTCCCAGGA) c.193_212delinsCCCAAGACGTGCTCCCAGGA (p.Pro65=) c.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA (n.314-1343_314-1324delinsCCCAAGACGTGCTCCCAGGA) n.466_485delinsCCCAAGACGTGCTCCCAGGA n.433_452delinsCCCAAGACGTGCTCCCAGGA | |
19 | g.11105223C>A | CA404076210 | LDLR | c.575C>A (p.Pro192His) c.317C>A (p.Pro106His) c.571C>A c.314-2169C>A (n.314-2169C>A) c.194C>A (p.Pro65His) c.314-1342C>A (n.314-1342C>A) n.467C>A n.434C>A | |
19 | g.11105223C= | CA2322767274 | LDLR | c.575C= (p.Pro192=) c.317C= (p.Pro106=) c.571C= c.314-2169C= (n.314-2169C=) c.194C= (p.Pro65=) c.314-1342C= (n.314-1342C=) n.467C= n.434C= | |
19 | g.11105223C>G | CA404076209 | LDLR | c.575C>G (p.Pro192Arg) c.317C>G (p.Pro106Arg) c.571C>G c.314-2169C>G (n.314-2169C>G) c.194C>G (p.Pro65Arg) c.314-1342C>G (n.314-1342C>G) n.467C>G n.434C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105223C>T | CA404076208 | LDLR | c.575C>T (p.Pro192Leu) c.317C>T (p.Pro106Leu) c.571C>T c.314-2169C>T (n.314-2169C>T) c.194C>T (p.Pro65Leu) c.314-1342C>T (n.314-1342C>T) n.467C>T n.434C>T | ClinVar gnomAD v4 |
19 | g.11105224_11105242del | CA645373222 | LDLR | c.576_594del (p.Lys193SerfsTer?) c.318_336del (p.Lys107SerfsTer?) c.572_590del c.314-2168_314-2150del (n.314-2168_314-2150del) c.195_213del (p.Lys66SerfsTer?) c.314-1341_314-1323del (n.314-1341_314-1323del) n.468_486del n.435_453del | ClinVar dbSNP |
19 | g.11105224C>A | CA505742132 | LDLR | c.576C>A (p.Pro192=) c.318C>A (p.Pro106=) c.572C>A c.314-2168C>A (n.314-2168C>A) c.195C>A (p.Pro65=) c.314-1341C>A (n.314-1341C>A) n.468C>A n.435C>A | |
19 | g.11105224C= | CA2322767275 | LDLR | c.576C= (p.Pro192=) c.318C= (p.Pro106=) c.572C= c.314-2168C= (n.314-2168C=) c.195C= (p.Pro65=) c.314-1341C= (n.314-1341C=) n.468C= n.435C= | |
19 | g.11105224C>G | CA505742130 | LDLR | c.576C>G (p.Pro192=) c.318C>G (p.Pro106=) c.572C>G c.314-2168C>G (n.314-2168C>G) c.195C>G (p.Pro65=) c.314-1341C>G (n.314-1341C>G) n.468C>G n.435C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105224C>T | CA505742131 | LDLR | c.576C>T (p.Pro192=) c.318C>T (p.Pro106=) c.572C>T c.314-2168C>T (n.314-2168C>T) c.195C>T (p.Pro65=) c.314-1341C>T (n.314-1341C>T) n.468C>T n.435C>T | |
19 | g.11105225A>C | CA404076211 | LDLR | c.577A>C (p.Lys193Gln) c.319A>C (p.Lys107Gln) c.573A>C c.314-2167A>C (n.314-2167A>C) c.196A>C (p.Lys66Gln) c.314-1340A>C (n.314-1340A>C) n.469A>C n.436A>C | |
19 | g.11105225A>G | CA404076212 | LDLR | c.577A>G (p.Lys193Glu) c.319A>G (p.Lys107Glu) c.573A>G c.314-2167A>G (n.314-2167A>G) c.196A>G (p.Lys66Glu) c.314-1340A>G (n.314-1340A>G) n.469A>G n.436A>G | |
19 | g.11105225A>T | CA404076213 | LDLR | c.577A>T (p.Lys193Ter) c.319A>T (p.Lys107Ter) c.573A>T c.314-2167A>T (n.314-2167A>T) c.196A>T (p.Lys66Ter) c.314-1340A>T (n.314-1340A>T) n.469A>T n.436A>T | |
19 | g.11105225_11105226del | CA2573155725 | LDLR | c.577_578del (p.Lys193AspfsTer22) c.319_320del (p.Lys107AspfsTer22) c.573_574del c.314-2167_314-2166del (n.314-2167_314-2166del) c.196_197del (p.Lys66AspfsTer22) c.314-1340_314-1339del (n.314-1340_314-1339del) n.469_470del n.436_437del | dbSNP |
19 | g.11105226dup | CA10584853 | LDLR | c.578dup (p.Thr194AspfsTer22) c.320dup (p.Thr108AspfsTer22) c.574dup c.314-2166dup (n.314-2166dup) c.197dup (p.Thr67AspfsTer22) c.314-1339dup (n.314-1339dup) n.470dup n.437dup | ClinVar dbSNP |
19 | g.11105226del | CA2580096409 | LDLR | c.578del (p.Lys193ArgfsTer?) c.320del (p.Lys107ArgfsTer?) c.574del c.314-2166del (n.314-2166del) c.197del (p.Lys66ArgfsTer?) c.314-1339del (n.314-1339del) n.470del n.437del | ClinVar |
19 | g.11105226A>C | CA404076214 | LDLR | c.578A>C (p.Lys193Thr) c.320A>C (p.Lys107Thr) c.574A>C c.314-2166A>C (n.314-2166A>C) c.197A>C (p.Lys66Thr) c.314-1339A>C (n.314-1339A>C) n.470A>C n.437A>C | |
19 | g.11105226A>G | CA404076215 | LDLR | c.578A>G (p.Lys193Arg) c.320A>G (p.Lys107Arg) c.574A>G c.314-2166A>G (n.314-2166A>G) c.197A>G (p.Lys66Arg) c.314-1339A>G (n.314-1339A>G) n.470A>G n.437A>G | |
19 | g.11105226A>T | CA404076216 | LDLR | c.578A>T (p.Lys193Met) c.320A>T (p.Lys107Met) c.574A>T c.314-2166A>T (n.314-2166A>T) c.197A>T (p.Lys66Met) c.314-1339A>T (n.314-1339A>T) n.470A>T n.437A>T | |
19 | g.11105226_11105239delinsAGACGTGCTCCCAG | CA2322767276 | LDLR | c.578_591delinsAGACGTGCTCCCAG (p.Lys193=) c.320_333delinsAGACGTGCTCCCAG (p.Lys107=) c.574_587delinsAGACGTGCTCCCAG c.314-2166_314-2153delinsAGACGTGCTCCCAG (n.314-2166_314-2153delinsAGACGTGCTCCCAG) c.197_210delinsAGACGTGCTCCCAG (p.Lys66=) c.314-1339_314-1326delinsAGACGTGCTCCCAG (n.314-1339_314-1326delinsAGACGTGCTCCCAG) n.470_483delinsAGACGTGCTCCCAG n.437_450delinsAGACGTGCTCCCAG | |
19 | g.11105227G>A | CA505742133 | LDLR | c.579G>A (p.Lys193=) c.321G>A (p.Lys107=) c.575G>A c.314-2165G>A (n.314-2165G>A) c.198G>A (p.Lys66=) c.314-1338G>A (n.314-1338G>A) n.471G>A n.438G>A | |
19 | g.11105227G>C | CA404076217 | LDLR | c.579G>C (p.Lys193Asn) c.321G>C (p.Lys107Asn) c.575G>C c.314-2165G>C (n.314-2165G>C) c.198G>C (p.Lys66Asn) c.314-1338G>C (n.314-1338G>C) n.471G>C n.438G>C | |
19 | g.11105227G>T | CA404076218 | LDLR | c.579G>T (p.Lys193Asn) c.321G>T (p.Lys107Asn) c.575G>T c.314-2165G>T (n.314-2165G>T) c.198G>T (p.Lys66Asn) c.314-1338G>T (n.314-1338G>T) n.471G>T n.438G>T | gnomAD v4 |
19 | g.11105231_11105243del | CA10584856 | LDLR | c.583_595del (p.Cys195SerfsTer?) c.325_337del (p.Cys109SerfsTer?) c.579_591del c.314-2161_314-2149del (n.314-2161_314-2149del) c.202_214del (p.Cys68SerfsTer?) c.314-1334_314-1322del (n.314-1334_314-1322del) n.475_487del n.442_454del | ClinVar dbSNP |
19 | g.11105228A>C | CA404076219 | LDLR | c.580A>C (p.Thr194Pro) c.322A>C (p.Thr108Pro) c.576A>C c.314-2164A>C (n.314-2164A>C) c.199A>C (p.Thr67Pro) c.314-1337A>C (n.314-1337A>C) n.472A>C n.439A>C | |
19 | g.11105228A>G | CA404076220 | LDLR | c.580A>G (p.Thr194Ala) c.322A>G (p.Thr108Ala) c.576A>G c.314-2164A>G (n.314-2164A>G) c.199A>G (p.Thr67Ala) c.314-1337A>G (n.314-1337A>G) n.472A>G n.439A>G | |
19 | g.11105228A>T | CA404076221 | LDLR | c.580A>T (p.Thr194Ser) c.322A>T (p.Thr108Ser) c.576A>T c.314-2164A>T (n.314-2164A>T) c.199A>T (p.Thr67Ser) c.314-1337A>T (n.314-1337A>T) n.472A>T n.439A>T | |
19 | g.11105229C>A | CA404076223 | LDLR | c.581C>A (p.Thr194Lys) c.323C>A (p.Thr108Lys) c.577C>A c.314-2163C>A (n.314-2163C>A) c.200C>A (p.Thr67Lys) c.314-1336C>A (n.314-1336C>A) n.473C>A n.440C>A | ClinVar dbSNP |
19 | g.11105229C= | CA2322767277 | LDLR | c.581C= (p.Thr194=) c.323C= (p.Thr108=) c.577C= c.314-2163C= (n.314-2163C=) c.200C= (p.Thr67=) c.314-1336C= (n.314-1336C=) n.473C= n.440C= | |
19 | g.11105229C>G | CA404076222 | LDLR | c.581C>G (p.Thr194Arg) c.323C>G (p.Thr108Arg) c.577C>G c.314-2163C>G (n.314-2163C>G) c.200C>G (p.Thr67Arg) c.314-1336C>G (n.314-1336C>G) n.473C>G n.440C>G | |
19 | g.11105229C>T | CA043057 | LDLR | c.581C>T (p.Thr194Met) c.323C>T (p.Thr108Met) c.577C>T c.314-2163C>T (n.314-2163C>T) c.200C>T (p.Thr67Met) c.314-1336C>T (n.314-1336C>T) n.473C>T n.440C>T | ClinVar dbSNP ExAC gnomAD v4 COSMIC |
19 | g.11105229_11105230insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT | CA2582473420 | LDLR | c.581_582insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys195GlyfsTer8) c.323_324insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys109GlyfsTer8) c.577_578insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT c.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-2163_314-2162insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT) c.200_201insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (p.Cys68GlyfsTer8) c.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT (n.314-1336_314-1335insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT) n.473_474insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT n.440_441insCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTT | gnomAD v4 |
19 | g.11105230G>A | CA043072 | LDLR | c.582G>A (p.Thr194=) c.324G>A (p.Thr108=) c.578G>A c.314-2162G>A (n.314-2162G>A) c.201G>A (p.Thr67=) c.314-1335G>A (n.314-1335G>A) n.474G>A n.441G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105230G>C | CA043084 | LDLR | c.582G>C (p.Thr194=) c.324G>C (p.Thr108=) c.578G>C c.314-2162G>C (n.314-2162G>C) c.201G>C (p.Thr67=) c.314-1335G>C (n.314-1335G>C) n.474G>C n.441G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105230G= | CA2322767278 | LDLR | c.582G= (p.Thr194=) c.324G= (p.Thr108=) c.578G= c.314-2162G= (n.314-2162G=) c.201G= (p.Thr67=) c.314-1335G= (n.314-1335G=) n.474G= n.441G= | |
19 | g.11105230G>T | CA10587293 | LDLR | c.582G>T (p.Thr194=) c.324G>T (p.Thr108=) c.578G>T c.314-2162G>T (n.314-2162G>T) c.201G>T (p.Thr67=) c.314-1335G>T (n.314-1335G>T) n.474G>T n.441G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105230_11105231delinsGT | CA2322767279 | LDLR | c.582_583delinsGT (p.Thr194=) c.324_325delinsGT (p.Thr108=) c.578_579delinsGT c.314-2162_314-2161delinsGT (n.314-2162_314-2161delinsGT) c.201_202delinsGT (p.Thr67=) c.314-1335_314-1334delinsGT (n.314-1335_314-1334delinsGT) n.474_475delinsGT n.441_442delinsGT | |
19 | g.11105230_11105231delinsTC | CA10584854 | LDLR | c.582_583delinsTC (p.Cys195Arg) c.324_325delinsTC (p.Cys109Arg) c.578_579delinsTC c.314-2162_314-2161delinsTC (n.314-2162_314-2161delinsTC) c.201_202delinsTC (p.Cys68Arg) c.314-1335_314-1334delinsTC (n.314-1335_314-1334delinsTC) n.474_475delinsTC n.441_442delinsTC | ClinVar dbSNP |
19 | g.11105231T>A | CA404076224 | LDLR | c.583T>A (p.Cys195Ser) c.325T>A (p.Cys109Ser) c.579T>A c.314-2161T>A (n.314-2161T>A) c.202T>A (p.Cys68Ser) c.314-1334T>A (n.314-1334T>A) n.475T>A n.442T>A | |
19 | g.11105231T>C | CA10584855 | LDLR | c.583T>C (p.Cys195Arg) c.325T>C (p.Cys109Arg) c.579T>C c.314-2161T>C (n.314-2161T>C) c.202T>C (p.Cys68Arg) c.314-1334T>C (n.314-1334T>C) n.475T>C n.442T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105231T>G | CA404076225 | LDLR | c.583T>G (p.Cys195Gly) c.325T>G (p.Cys109Gly) c.579T>G c.314-2161T>G (n.314-2161T>G) c.202T>G (p.Cys68Gly) c.314-1334T>G (n.314-1334T>G) n.475T>G n.442T>G | ClinVar dbSNP |
19 | g.11105231T= | CA2322767280 | LDLR | c.583T= (p.Cys195=) c.325T= (p.Cys109=) c.579T= c.314-2161T= (n.314-2161T=) c.202T= (p.Cys68=) c.314-1334T= (n.314-1334T=) n.475T= n.442T= | |
19 | g.11105232G>A | CA043125 | LDLR | c.584G>A (p.Cys195Tyr) c.326G>A (p.Cys109Tyr) c.580G>A c.314-2160G>A (n.314-2160G>A) c.203G>A (p.Cys68Tyr) c.314-1333G>A (n.314-1333G>A) n.476G>A n.443G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105232G>C | CA023694 | LDLR | c.584G>C (p.Cys195Ser) c.326G>C (p.Cys109Ser) c.580G>C c.314-2160G>C (n.314-2160G>C) c.203G>C (p.Cys68Ser) c.314-1333G>C (n.314-1333G>C) n.476G>C n.443G>C | ClinVar dbSNP |
19 | g.11105232G= | CA2322767281 | LDLR | c.584G= (p.Cys195=) c.326G= (p.Cys109=) c.580G= c.314-2160G= (n.314-2160G=) c.203G= (p.Cys68=) c.314-1333G= (n.314-1333G=) n.476G= n.443G= | |
19 | g.11105232G>T | CA10584857 | LDLR | c.584G>T (p.Cys195Phe) c.326G>T (p.Cys109Phe) c.580G>T c.314-2160G>T (n.314-2160G>T) c.203G>T (p.Cys68Phe) c.314-1333G>T (n.314-1333G>T) n.476G>T n.443G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105233C>A | CA16602297 | LDLR | c.585C>A (p.Cys195Ter) c.327C>A (p.Cys109Ter) c.581C>A c.314-2159C>A (n.314-2159C>A) c.204C>A (p.Cys68Ter) c.314-1332C>A (n.314-1332C>A) n.477C>A n.444C>A | ClinVar dbSNP |
19 | g.11105233C= | CA2322767282 | LDLR | c.585C= (p.Cys195=) c.327C= (p.Cys109=) c.581C= c.314-2159C= (n.314-2159C=) c.204C= (p.Cys68=) c.314-1332C= (n.314-1332C=) n.477C= n.444C= | |
19 | g.11105233C>G | CA404076226 | LDLR | c.585C>G (p.Cys195Trp) c.327C>G (p.Cys109Trp) c.581C>G c.314-2159C>G (n.314-2159C>G) c.204C>G (p.Cys68Trp) c.314-1332C>G (n.314-1332C>G) n.477C>G n.444C>G | |
19 | g.11105233C>T | CA505742141 | LDLR | c.585C>T (p.Cys195=) c.327C>T (p.Cys109=) c.581C>T c.314-2159C>T (n.314-2159C>T) c.204C>T (p.Cys68=) c.314-1332C>T (n.314-1332C>T) n.477C>T n.444C>T | |
19 | g.11105233dup | CA10584858 | LDLR | c.585dup (p.Ser196LeufsTer20) c.327dup (p.Ser110LeufsTer20) c.581dup c.314-2159dup (n.314-2159dup) c.204dup (p.Ser69LeufsTer20) c.314-1332dup (n.314-1332dup) n.477dup n.444dup | ClinVar dbSNP |
19 | g.11105234T>A | CA404076227 | LDLR | c.586T>A (p.Ser196Thr) c.328T>A (p.Ser110Thr) c.582T>A c.314-2158T>A (n.314-2158T>A) c.205T>A (p.Ser69Thr) c.314-1331T>A (n.314-1331T>A) n.478T>A n.445T>A | COSMIC |
19 | g.11105234T>C | CA404076228 | LDLR | c.586T>C (p.Ser196Pro) c.328T>C (p.Ser110Pro) c.582T>C c.314-2158T>C (n.314-2158T>C) c.205T>C (p.Ser69Pro) c.314-1331T>C (n.314-1331T>C) n.478T>C n.445T>C | |
19 | g.11105234T>G | CA404076229 | LDLR | c.586T>G (p.Ser196Ala) c.328T>G (p.Ser110Ala) c.582T>G c.314-2158T>G (n.314-2158T>G) c.205T>G (p.Ser69Ala) c.314-1331T>G (n.314-1331T>G) n.478T>G n.445T>G | |
19 | g.11105235C>A | CA404076230 | LDLR | c.587C>A (p.Ser196Tyr) c.329C>A (p.Ser110Tyr) c.583C>A c.314-2157C>A (n.314-2157C>A) c.206C>A (p.Ser69Tyr) c.314-1330C>A (n.314-1330C>A) n.479C>A n.446C>A | |
19 | g.11105235C>G | CA404076231 | LDLR | c.587C>G (p.Ser196Cys) c.329C>G (p.Ser110Cys) c.583C>G c.314-2157C>G (n.314-2157C>G) c.206C>G (p.Ser69Cys) c.314-1330C>G (n.314-1330C>G) n.479C>G n.446C>G | |
19 | g.11105235C>T | CA404076232 | LDLR | c.587C>T (p.Ser196Phe) c.329C>T (p.Ser110Phe) c.583C>T c.314-2157C>T (n.314-2157C>T) c.206C>T (p.Ser69Phe) c.314-1330C>T (n.314-1330C>T) n.479C>T n.446C>T | |
19 | g.11105236C>A | CA505742144 | LDLR | c.588C>A (p.Ser196=) c.330C>A (p.Ser110=) c.584C>A c.314-2156C>A (n.314-2156C>A) c.207C>A (p.Ser69=) c.314-1329C>A (n.314-1329C>A) n.480C>A n.447C>A | |
19 | g.11105236C= | CA2322767283 | LDLR | c.588C= (p.Ser196=) c.330C= (p.Ser110=) c.584C= c.314-2156C= (n.314-2156C=) c.207C= (p.Ser69=) c.314-1329C= (n.314-1329C=) n.480C= n.447C= | |
19 | g.11105236C>G | CA043138 | LDLR | c.588C>G (p.Ser196=) c.330C>G (p.Ser110=) c.584C>G c.314-2156C>G (n.314-2156C>G) c.207C>G (p.Ser69=) c.314-1329C>G (n.314-1329C>G) n.480C>G n.447C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105236C>T | CA505742147 | LDLR | c.588C>T (p.Ser196=) c.330C>T (p.Ser110=) c.584C>T c.314-2156C>T (n.314-2156C>T) c.207C>T (p.Ser69=) c.314-1329C>T (n.314-1329C>T) n.480C>T n.447C>T | ClinVar |
19 | g.11105237C>A | CA404076233 | LDLR | c.589C>A (p.Gln197Lys) c.331C>A (p.Gln111Lys) c.585C>A c.314-2155C>A (n.314-2155C>A) c.208C>A (p.Gln70Lys) c.314-1328C>A (n.314-1328C>A) n.481C>A n.448C>A | |
19 | g.11105237C>G | CA404076234 | LDLR | c.589C>G (p.Gln197Glu) c.331C>G (p.Gln111Glu) c.585C>G c.314-2155C>G (n.314-2155C>G) c.208C>G (p.Gln70Glu) c.314-1328C>G (n.314-1328C>G) n.481C>G n.448C>G | |
19 | g.11105237C>T | CA404076235 | LDLR | c.589C>T (p.Gln197Ter) c.331C>T (p.Gln111Ter) c.585C>T c.314-2155C>T (n.314-2155C>T) c.208C>T (p.Gln70Ter) c.314-1328C>T (n.314-1328C>T) n.481C>T n.448C>T | ClinVar dbSNP |
19 | g.11105238A= | CA2322767284 | LDLR | c.590A= (p.Gln197=) c.332A= (p.Gln111=) c.586A= c.314-2154A= (n.314-2154A=) c.209A= (p.Gln70=) c.314-1327A= (n.314-1327A=) n.482A= n.449A= | |
19 | g.11105238A>C | CA404076236 | LDLR | c.590A>C (p.Gln197Pro) c.332A>C (p.Gln111Pro) c.586A>C c.314-2154A>C (n.314-2154A>C) c.209A>C (p.Gln70Pro) c.314-1327A>C (n.314-1327A>C) n.482A>C n.449A>C | |
19 | g.11105238A>G | CA043161 | LDLR | c.590A>G (p.Gln197Arg) c.332A>G (p.Gln111Arg) c.586A>G c.314-2154A>G (n.314-2154A>G) c.209A>G (p.Gln70Arg) c.314-1327A>G (n.314-1327A>G) n.482A>G n.449A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105238A>T | CA404076237 | LDLR | c.590A>T (p.Gln197Leu) c.332A>T (p.Gln111Leu) c.586A>T c.314-2154A>T (n.314-2154A>T) c.209A>T (p.Gln70Leu) c.314-1327A>T (n.314-1327A>T) n.482A>T n.449A>T | |
19 | g.11105239G>A | CA505742149 | LDLR | c.591G>A (p.Gln197=) c.333G>A (p.Gln111=) c.587G>A c.314-2153G>A (n.314-2153G>A) c.210G>A (p.Gln70=) c.314-1326G>A (n.314-1326G>A) n.483G>A n.450G>A | |
19 | g.11105239G>C | CA404076238 | LDLR | c.591G>C (p.Gln197His) c.333G>C (p.Gln111His) c.587G>C c.314-2153G>C (n.314-2153G>C) c.210G>C (p.Gln70His) c.314-1326G>C (n.314-1326G>C) n.483G>C n.450G>C | |
19 | g.11105239G>T | CA404076239 | LDLR | c.591G>T (p.Gln197His) c.333G>T (p.Gln111His) c.587G>T c.314-2153G>T (n.314-2153G>T) c.210G>T (p.Gln70His) c.314-1326G>T (n.314-1326G>T) n.483G>T n.450G>T | |
19 | g.11105239_11105249delinsGGACGAGTTTC | CA2322767285 | LDLR | c.591_601delinsGGACGAGTTTC (p.Gln197=) c.333_343delinsGGACGAGTTTC (p.Gln111=) c.587_597delinsGGACGAGTTTC c.314-2153_314-2143delinsGGACGAGTTTC (n.314-2153_314-2143delinsGGACGAGTTTC) c.210_220delinsGGACGAGTTTC (p.Gln70=) c.314-1326_314-1316delinsGGACGAGTTTC (n.314-1326_314-1316delinsGGACGAGTTTC) n.483_493delinsGGACGAGTTTC n.450_460delinsGGACGAGTTTC | |
19 | g.11105240G>A | CA404076240 | LDLR | c.592G>A (p.Asp198Asn) c.334G>A (p.Asp112Asn) c.588G>A c.314-2152G>A (n.314-2152G>A) c.211G>A (p.Asp71Asn) c.314-1325G>A (n.314-1325G>A) n.484G>A n.451G>A | |
19 | g.11105240G>C | CA404076241 | LDLR | c.592G>C (p.Asp198His) c.334G>C (p.Asp112His) c.588G>C c.314-2152G>C (n.314-2152G>C) c.211G>C (p.Asp71His) c.314-1325G>C (n.314-1325G>C) n.484G>C n.451G>C | gnomAD v4 |
19 | g.11105240G>T | CA404076242 | LDLR | c.592G>T (p.Asp198Tyr) c.334G>T (p.Asp112Tyr) c.588G>T c.314-2152G>T (n.314-2152G>T) c.211G>T (p.Asp71Tyr) c.314-1325G>T (n.314-1325G>T) n.484G>T n.451G>T | |
19 | g.11105241_11105250del | CA10584859 | LDLR | c.593_602del (p.Asp198AlafsTer?) c.335_344del (p.Asp112AlafsTer?) c.589_598del c.314-2151_314-2142del (n.314-2151_314-2142del) c.212_221del (p.Asp71AlafsTer?) c.314-1324_314-1315del (n.314-1324_314-1315del) n.485_494del n.452_461del | ClinVar dbSNP |
19 | g.11105240_11105255dup | CA2580096410 | LDLR | c.592_607dup (p.His203ArgfsTer18) c.334_349dup (p.His117ArgfsTer18) c.588_603dup c.314-2152_314-2137dup (n.314-2152_314-2137dup) c.211_226dup (p.His76ArgfsTer18) c.314-1325_314-1310dup (n.314-1325_314-1310dup) n.484_499dup n.451_466dup | ClinVar |
19 | g.11105241A>C | CA404076244 | LDLR | c.593A>C (p.Asp198Ala) c.335A>C (p.Asp112Ala) c.589A>C c.314-2151A>C (n.314-2151A>C) c.212A>C (p.Asp71Ala) c.314-1324A>C (n.314-1324A>C) n.485A>C n.452A>C | |
19 | g.11105241A>G | CA404076243 | LDLR | c.593A>G (p.Asp198Gly) c.335A>G (p.Asp112Gly) c.589A>G c.314-2151A>G (n.314-2151A>G) c.212A>G (p.Asp71Gly) c.314-1324A>G (n.314-1324A>G) n.485A>G n.452A>G | |
19 | g.11105241A>T | CA404076245 | LDLR | c.593A>T (p.Asp198Val) c.335A>T (p.Asp112Val) c.589A>T c.314-2151A>T (n.314-2151A>T) c.212A>T (p.Asp71Val) c.314-1324A>T (n.314-1324A>T) n.485A>T n.452A>T | |
19 | g.11105242del | CA2695223190 | LDLR | c.594del (p.Asp198GlufsTer?) c.336del (p.Asp112GlufsTer?) c.590del c.314-2150del (n.314-2150del) c.213del (p.Asp71GlufsTer?) c.314-1323del (n.314-1323del) n.486del n.453del | |
19 | g.11105242C>A | CA404076246 | LDLR | c.594C>A (p.Asp198Glu) c.336C>A (p.Asp112Glu) c.590C>A c.314-2150C>A (n.314-2150C>A) c.213C>A (p.Asp71Glu) c.314-1323C>A (n.314-1323C>A) n.486C>A n.453C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105242C= | CA2322767286 | LDLR | c.594C= (p.Asp198=) c.336C= (p.Asp112=) c.590C= c.314-2150C= (n.314-2150C=) c.213C= (p.Asp71=) c.314-1323C= (n.314-1323C=) n.486C= n.453C= | |
19 | g.11105242C>G | CA404076247 | LDLR | c.594C>G (p.Asp198Glu) c.336C>G (p.Asp112Glu) c.590C>G c.314-2150C>G (n.314-2150C>G) c.213C>G (p.Asp71Glu) c.314-1323C>G (n.314-1323C>G) n.486C>G n.453C>G | gnomAD v4 |
19 | g.11105242C>T | CA043174 | LDLR | c.594C>T (p.Asp198=) c.336C>T (p.Asp112=) c.590C>T c.314-2150C>T (n.314-2150C>T) c.213C>T (p.Asp71=) c.314-1323C>T (n.314-1323C>T) n.486C>T n.453C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105243G>A | CA043209 | LDLR | c.595G>A (p.Glu199Lys) c.337G>A (p.Glu113Lys) c.591G>A c.314-2149G>A (n.314-2149G>A) c.214G>A (p.Glu72Lys) c.314-1322G>A (n.314-1322G>A) n.487G>A n.454G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105243G>C | CA404076248 | LDLR | c.595G>C (p.Glu199Gln) c.337G>C (p.Glu113Gln) c.591G>C c.314-2149G>C (n.314-2149G>C) c.214G>C (p.Glu72Gln) c.314-1322G>C (n.314-1322G>C) n.487G>C n.454G>C | |
19 | g.11105243G= | CA2322767287 | LDLR | c.595G= (p.Glu199=) c.337G= (p.Glu113=) c.591G= c.314-2149G= (n.314-2149G=) c.214G= (p.Glu72=) c.314-1322G= (n.314-1322G=) n.487G= n.454G= | |
19 | g.11105243G>T | CA10576279 | LDLR | c.595G>T (p.Glu199Ter) c.337G>T (p.Glu113Ter) c.591G>T c.314-2149G>T (n.314-2149G>T) c.214G>T (p.Glu72Ter) c.314-1322G>T (n.314-1322G>T) n.487G>T n.454G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105243dup | CA9204948 | LDLR | c.595dup (p.Glu199GlyfsTer17) c.337dup (p.Glu113GlyfsTer17) c.591dup c.314-2149dup (n.314-2149dup) c.214dup (p.Glu72GlyfsTer17) c.314-1322dup (n.314-1322dup) n.487dup n.454dup | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105243_11105259delinsGAGTTTCGCTGCCACGA | CA2322767288 | LDLR | c.595_611delinsGAGTTTCGCTGCCACGA (p.Glu199=) c.337_353delinsGAGTTTCGCTGCCACGA (p.Glu113=) c.591_607delinsGAGTTTCGCTGCCACGA c.314-2149_314-2133delinsGAGTTTCGCTGCCACGA (n.314-2149_314-2133delinsGAGTTTCGCTGCCACGA) c.214_230delinsGAGTTTCGCTGCCACGA (p.Glu72=) c.314-1322_314-1306delinsGAGTTTCGCTGCCACGA (n.314-1322_314-1306delinsGAGTTTCGCTGCCACGA) n.487_503delinsGAGTTTCGCTGCCACGA n.454_470delinsGAGTTTCGCTGCCACGA | |
19 | g.11105244A= | CA2322767289 | LDLR | c.596A= (p.Glu199=) c.338A= (p.Glu113=) c.592A= c.314-2148A= (n.314-2148A=) c.215A= (p.Glu72=) c.314-1321A= (n.314-1321A=) n.488A= n.455A= | |
19 | g.11105244A>C | CA404076249 | LDLR | c.596A>C (p.Glu199Ala) c.338A>C (p.Glu113Ala) c.592A>C c.314-2148A>C (n.314-2148A>C) c.215A>C (p.Glu72Ala) c.314-1321A>C (n.314-1321A>C) n.488A>C n.455A>C | |
19 | g.11105244A>G | CA404076250 | LDLR | c.596A>G (p.Glu199Gly) c.338A>G (p.Glu113Gly) c.592A>G c.314-2148A>G (n.314-2148A>G) c.215A>G (p.Glu72Gly) c.314-1321A>G (n.314-1321A>G) n.488A>G n.455A>G | |
19 | g.11105244A>T | CA404076251 | LDLR | c.596A>T (p.Glu199Val) c.338A>T (p.Glu113Val) c.592A>T c.314-2148A>T (n.314-2148A>T) c.215A>T (p.Glu72Val) c.314-1321A>T (n.314-1321A>T) n.488A>T n.455A>T | |
19 | g.11105244_11105249delinsT | CA2695223191 | LDLR | c.596_601delinsT (p.Glu199ValfsTer15) c.338_343delinsT (p.Glu113ValfsTer15) c.592_597delinsT c.314-2148_314-2143delinsT (n.314-2148_314-2143delinsT) c.215_220delinsT (p.Glu72ValfsTer15) c.314-1321_314-1316delinsT (n.314-1321_314-1316delinsT) n.488_493delinsT n.455_460delinsT | |
19 | g.11105244_11105249delinsAGTTTC | CA2322767290 | LDLR | c.596_601delinsAGTTTC (p.Glu199=) c.338_343delinsAGTTTC (p.Glu113=) c.592_597delinsAGTTTC c.314-2148_314-2143delinsAGTTTC (n.314-2148_314-2143delinsAGTTTC) c.215_220delinsAGTTTC (p.Glu72=) c.314-1321_314-1316delinsAGTTTC (n.314-1321_314-1316delinsAGTTTC) n.488_493delinsAGTTTC n.455_460delinsAGTTTC | |
19 | g.11105244_11105259del | CA10584860 | LDLR | c.596_611del (p.Glu199ValfsTer?) c.338_353del (p.Glu113ValfsTer?) c.592_607del c.314-2148_314-2133del (n.314-2148_314-2133del) c.215_230del (p.Glu72ValfsTer?) c.314-1321_314-1306del (n.314-1321_314-1306del) n.488_503del n.455_470del | ClinVar dbSNP |
19 | g.11105245G>A | CA505742157 | LDLR | c.597G>A (p.Glu199=) c.339G>A (p.Glu113=) c.593G>A c.314-2147G>A (n.314-2147G>A) c.216G>A (p.Glu72=) c.314-1320G>A (n.314-1320G>A) n.489G>A n.456G>A | |
19 | g.11105245G>C | CA404076253 | LDLR | c.597G>C (p.Glu199Asp) c.339G>C (p.Glu113Asp) c.593G>C c.314-2147G>C (n.314-2147G>C) c.216G>C (p.Glu72Asp) c.314-1320G>C (n.314-1320G>C) n.489G>C n.456G>C | |
19 | g.11105245G>T | CA404076252 | LDLR | c.597G>T (p.Glu199Asp) c.339G>T (p.Glu113Asp) c.593G>T c.314-2147G>T (n.314-2147G>T) c.216G>T (p.Glu72Asp) c.314-1320G>T (n.314-1320G>T) n.489G>T n.456G>T | |
19 | g.11105245dup | CA10584861 | LDLR | c.597dup (p.Phe200ValfsTer16) c.339dup (p.Phe114ValfsTer16) c.593dup c.314-2147dup (n.314-2147dup) c.216dup (p.Phe73ValfsTer16) c.314-1320dup (n.314-1320dup) n.489dup n.456dup | ClinVar dbSNP |
19 | g.11105246_11105250del | CA10654842 | LDLR | c.598_602del (p.Phe200LeufsTer14) c.340_344del (p.Phe114LeufsTer14) c.594_598del c.314-2146_314-2142del (n.314-2146_314-2142del) c.217_221del (p.Phe73LeufsTer14) c.314-1319_314-1315del (n.314-1319_314-1315del) n.490_494del n.457_461del | ClinVar dbSNP |
19 | g.11105246T>A | CA305296741 | LDLR | c.598T>A (p.Phe200Ile) c.340T>A (p.Phe114Ile) c.594T>A c.314-2146T>A (n.314-2146T>A) c.217T>A (p.Phe73Ile) c.314-1319T>A (n.314-1319T>A) n.490T>A n.457T>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11105246T>C | CA404076254 | LDLR | c.598T>C (p.Phe200Leu) c.340T>C (p.Phe114Leu) c.594T>C c.314-2146T>C (n.314-2146T>C) c.217T>C (p.Phe73Leu) c.314-1319T>C (n.314-1319T>C) n.490T>C n.457T>C | |
19 | g.11105246T>G | CA404076255 | LDLR | c.598T>G (p.Phe200Val) c.340T>G (p.Phe114Val) c.594T>G c.314-2146T>G (n.314-2146T>G) c.217T>G (p.Phe73Val) c.314-1319T>G (n.314-1319T>G) n.490T>G n.457T>G | |
19 | g.11105246T= | CA2322767291 | LDLR | c.598T= (p.Phe200=) c.340T= (p.Phe114=) c.594T= c.314-2146T= (n.314-2146T=) c.217T= (p.Phe73=) c.314-1319T= (n.314-1319T=) n.490T= n.457T= | |
19 | g.11105247T>A | CA404076256 | LDLR | c.599T>A (p.Phe200Tyr) c.341T>A (p.Phe114Tyr) c.595T>A c.314-2145T>A (n.314-2145T>A) c.218T>A (p.Phe73Tyr) c.314-1318T>A (n.314-1318T>A) n.491T>A n.458T>A | |
19 | g.11105247T>C | CA404076257 | LDLR | c.599T>C (p.Phe200Ser) c.341T>C (p.Phe114Ser) c.595T>C c.314-2145T>C (n.314-2145T>C) c.218T>C (p.Phe73Ser) c.314-1318T>C (n.314-1318T>C) n.491T>C n.458T>C | |
19 | g.11105247T>G | CA404076258 | LDLR | c.599T>G (p.Phe200Cys) c.341T>G (p.Phe114Cys) c.595T>G c.314-2145T>G (n.314-2145T>G) c.218T>G (p.Phe73Cys) c.314-1318T>G (n.314-1318T>G) n.491T>G n.458T>G | |
19 | g.11105248T>A | CA404076259 | LDLR | c.600T>A (p.Phe200Leu) c.342T>A (p.Phe114Leu) c.596T>A c.314-2144T>A (n.314-2144T>A) c.219T>A (p.Phe73Leu) c.314-1317T>A (n.314-1317T>A) n.492T>A n.459T>A | |
19 | g.11105248T>C | CA505742162 | LDLR | c.600T>C (p.Phe200=) c.342T>C (p.Phe114=) c.596T>C c.314-2144T>C (n.314-2144T>C) c.219T>C (p.Phe73=) c.314-1317T>C (n.314-1317T>C) n.492T>C n.459T>C | |
19 | g.11105248T>G | CA404076260 | LDLR | c.600T>G (p.Phe200Leu) c.342T>G (p.Phe114Leu) c.596T>G c.314-2144T>G (n.314-2144T>G) c.219T>G (p.Phe73Leu) c.314-1317T>G (n.314-1317T>G) n.492T>G n.459T>G | |
19 | g.11105249C>A | CA404076261 | LDLR | c.601C>A (p.Arg201Ser) c.343C>A (p.Arg115Ser) c.597C>A c.314-2143C>A (n.314-2143C>A) c.220C>A (p.Arg74Ser) c.314-1316C>A (n.314-1316C>A) n.493C>A n.460C>A | |
19 | g.11105249C= | CA2322767292 | LDLR | c.601C= (p.Arg201=) c.343C= (p.Arg115=) c.597C= c.314-2143C= (n.314-2143C=) c.220C= (p.Arg74=) c.314-1316C= (n.314-1316C=) n.493C= n.460C= | |
19 | g.11105249C>G | CA404076262 | LDLR | c.601C>G (p.Arg201Gly) c.343C>G (p.Arg115Gly) c.597C>G c.314-2143C>G (n.314-2143C>G) c.220C>G (p.Arg74Gly) c.314-1316C>G (n.314-1316C>G) n.493C>G n.460C>G | |
19 | g.11105249C>T | CA043225 | LDLR | c.601C>T (p.Arg201Cys) c.343C>T (p.Arg115Cys) c.597C>T c.314-2143C>T (n.314-2143C>T) c.220C>T (p.Arg74Cys) c.314-1316C>T (n.314-1316C>T) n.493C>T n.460C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105250G>A | CA043240 | LDLR | c.602G>A (p.Arg201His) c.344G>A (p.Arg115His) c.598G>A c.314-2142G>A (n.314-2142G>A) c.221G>A (p.Arg74His) c.314-1315G>A (n.314-1315G>A) n.494G>A n.461G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105250G>C | CA404076264 | LDLR | c.602G>C (p.Arg201Pro) c.344G>C (p.Arg115Pro) c.598G>C c.314-2142G>C (n.314-2142G>C) c.221G>C (p.Arg74Pro) c.314-1315G>C (n.314-1315G>C) n.494G>C n.461G>C | |
19 | g.11105250G= | CA2322767293 | LDLR | c.602G= (p.Arg201=) c.344G= (p.Arg115=) c.598G= c.314-2142G= (n.314-2142G=) c.221G= (p.Arg74=) c.314-1315G= (n.314-1315G=) n.494G= n.461G= | |
19 | g.11105250G>T | CA404076263 | LDLR | c.602G>T (p.Arg201Leu) c.344G>T (p.Arg115Leu) c.598G>T c.314-2142G>T (n.314-2142G>T) c.221G>T (p.Arg74Leu) c.314-1315G>T (n.314-1315G>T) n.494G>T n.461G>T | COSMIC |
19 | g.11105250_11105271delinsGCTGCCACGATGGGAAGTGCAT | CA2322767294 | LDLR | c.602_623delinsGCTGCCACGATGGGAAGTGCAT (p.Arg201=) c.344_365delinsGCTGCCACGATGGGAAGTGCAT (p.Arg115=) c.598_619delinsGCTGCCACGATGGGAAGTGCAT c.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT (n.314-2142_314-2121delinsGCTGCCACGATGGGAAGTGCAT) c.221_242delinsGCTGCCACGATGGGAAGTGCAT (p.Arg74=) c.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT (n.314-1315_314-1294delinsGCTGCCACGATGGGAAGTGCAT) n.494_515delinsGCTGCCACGATGGGAAGTGCAT n.461_482delinsGCTGCCACGATGGGAAGTGCAT | |
19 | g.11105251C>A | CA505742165 | LDLR | c.603C>A (p.Arg201=) c.345C>A (p.Arg115=) c.599C>A c.314-2141C>A (n.314-2141C>A) c.222C>A (p.Arg74=) c.314-1314C>A (n.314-1314C>A) n.495C>A n.462C>A | |
19 | g.11105251C= | CA2322767295 | LDLR | c.603C= (p.Arg201=) c.345C= (p.Arg115=) c.599C= c.314-2141C= (n.314-2141C=) c.222C= (p.Arg74=) c.314-1314C= (n.314-1314C=) n.495C= n.462C= | |
19 | g.11105251C>G | CA043250 | LDLR | c.603C>G (p.Arg201=) c.345C>G (p.Arg115=) c.599C>G c.314-2141C>G (n.314-2141C>G) c.222C>G (p.Arg74=) c.314-1314C>G (n.314-1314C>G) n.495C>G n.462C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105251C>T | CA505742166 | LDLR | c.603C>T (p.Arg201=) c.345C>T (p.Arg115=) c.599C>T c.314-2141C>T (n.314-2141C>T) c.222C>T (p.Arg74=) c.314-1314C>T (n.314-1314C>T) n.495C>T n.462C>T | ClinVar dbSNP |
19 | g.11105253_11105273del | CA10584865 | LDLR | c.605_625del (p.Cys202_Ile208del) c.347_367del (p.Cys116_Ile122del) c.601_621del c.314-2139_314-2119del (n.314-2139_314-2119del) c.224_244del (p.Cys75_Ile81del) c.314-1312_314-1292del (n.314-1312_314-1292del) n.497_517del n.464_484del | ClinVar dbSNP |
19 | g.11105252T>A | CA404076265 | LDLR | c.604T>A (p.Cys202Ser) c.346T>A (p.Cys116Ser) c.600T>A c.314-2140T>A (n.314-2140T>A) c.223T>A (p.Cys75Ser) c.314-1313T>A (n.314-1313T>A) n.496T>A n.463T>A | dbSNP |
19 | g.11105252T>C | CA10584862 | LDLR | c.604T>C (p.Cys202Arg) c.346T>C (p.Cys116Arg) c.600T>C c.314-2140T>C (n.314-2140T>C) c.223T>C (p.Cys75Arg) c.314-1313T>C (n.314-1313T>C) n.496T>C n.463T>C | ClinVar dbSNP |
19 | g.11105252T>G | CA404076266 | LDLR | c.604T>G (p.Cys202Gly) c.346T>G (p.Cys116Gly) c.600T>G c.314-2140T>G (n.314-2140T>G) c.223T>G (p.Cys75Gly) c.314-1313T>G (n.314-1313T>G) n.496T>G n.463T>G | |
19 | g.11105252T= | CA2322767296 | LDLR | c.604T= (p.Cys202=) c.346T= (p.Cys116=) c.600T= c.314-2140T= (n.314-2140T=) c.223T= (p.Cys75=) c.314-1313T= (n.314-1313T=) n.496T= n.463T= | |
19 | g.11105252_11105255delinsTGCC | CA2322767297 | LDLR | c.604_607delinsTGCC (p.Cys202=) c.346_349delinsTGCC (p.Cys116=) c.600_603delinsTGCC c.314-2140_314-2137delinsTGCC (n.314-2140_314-2137delinsTGCC) c.223_226delinsTGCC (p.Cys75=) c.314-1313_314-1310delinsTGCC (n.314-1313_314-1310delinsTGCC) n.496_499delinsTGCC n.463_466delinsTGCC | |
19 | g.11105253G>A | CA404076267 | LDLR | c.605G>A (p.Cys202Tyr) c.347G>A (p.Cys116Tyr) c.601G>A c.314-2139G>A (n.314-2139G>A) c.224G>A (p.Cys75Tyr) c.314-1312G>A (n.314-1312G>A) n.497G>A n.464G>A | ClinVar dbSNP |
19 | g.11105253G>C | CA404076268 | LDLR | c.605G>C (p.Cys202Ser) c.347G>C (p.Cys116Ser) c.601G>C c.314-2139G>C (n.314-2139G>C) c.224G>C (p.Cys75Ser) c.314-1312G>C (n.314-1312G>C) n.497G>C n.464G>C | |
19 | g.11105253G= | CA2322767298 | LDLR | c.605G= (p.Cys202=) c.347G= (p.Cys116=) c.601G= c.314-2139G= (n.314-2139G=) c.224G= (p.Cys75=) c.314-1312G= (n.314-1312G=) n.497G= n.464G= | |
19 | g.11105253G>T | CA10584863 | LDLR | c.605G>T (p.Cys202Phe) c.347G>T (p.Cys116Phe) c.601G>T c.314-2139G>T (n.314-2139G>T) c.224G>T (p.Cys75Phe) c.314-1312G>T (n.314-1312G>T) n.497G>T n.464G>T | ClinVar dbSNP |
19 | g.11105253_11105255del | CA10584864 | LDLR | c.605_607del (p.Cys202_His203delinsTyr) c.347_349del (p.Cys116_His117delinsTyr) c.601_603del c.314-2139_314-2137del (n.314-2139_314-2137del) c.224_226del (p.Cys75_His76delinsTyr) c.314-1312_314-1310del (n.314-1312_314-1310del) n.497_499del n.464_466del | ClinVar dbSNP |
19 | g.11105254C>A | CA404076269 | LDLR | c.606C>A (p.Cys202Ter) c.348C>A (p.Cys116Ter) c.602C>A c.314-2138C>A (n.314-2138C>A) c.225C>A (p.Cys75Ter) c.314-1311C>A (n.314-1311C>A) n.498C>A n.465C>A | |
19 | g.11105254C= | CA2322767299 | LDLR | c.606C= (p.Cys202=) c.348C= (p.Cys116=) c.602C= c.314-2138C= (n.314-2138C=) c.225C= (p.Cys75=) c.314-1311C= (n.314-1311C=) n.498C= n.465C= | |
19 | g.11105254C>G | CA404076270 | LDLR | c.606C>G (p.Cys202Trp) c.348C>G (p.Cys116Trp) c.602C>G c.314-2138C>G (n.314-2138C>G) c.225C>G (p.Cys75Trp) c.314-1311C>G (n.314-1311C>G) n.498C>G n.465C>G | |
19 | g.11105254C>T | CA505742170 | LDLR | c.606C>T (p.Cys202=) c.348C>T (p.Cys116=) c.602C>T c.314-2138C>T (n.314-2138C>T) c.225C>T (p.Cys75=) c.314-1311C>T (n.314-1311C>T) n.498C>T n.465C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105255del | CA2497030146 | LDLR | c.607del (p.His203ThrfsTer?) c.349del (p.His117ThrfsTer?) c.603del c.314-2137del (n.314-2137del) c.226del (p.His76ThrfsTer?) c.314-1310del (n.314-1310del) n.499del n.466del | |
19 | g.11105255C>A | CA404076271 | LDLR | c.607C>A (p.His203Asn) c.349C>A (p.His117Asn) c.603C>A c.314-2137C>A (n.314-2137C>A) c.226C>A (p.His76Asn) c.314-1310C>A (n.314-1310C>A) n.499C>A n.466C>A | |
19 | g.11105255C= | CA2322767300 | LDLR | c.607C= (p.His203=) c.349C= (p.His117=) c.603C= c.314-2137C= (n.314-2137C=) c.226C= (p.His76=) c.314-1310C= (n.314-1310C=) n.499C= n.466C= | |
19 | g.11105255C>G | CA404076272 | LDLR | c.607C>G (p.His203Asp) c.349C>G (p.His117Asp) c.603C>G c.314-2137C>G (n.314-2137C>G) c.226C>G (p.His76Asp) c.314-1310C>G (n.314-1310C>G) n.499C>G n.466C>G | |
19 | g.11105255C>T | CA10584866 | LDLR | c.607C>T (p.His203Tyr) c.349C>T (p.His117Tyr) c.603C>T c.314-2137C>T (n.314-2137C>T) c.226C>T (p.His76Tyr) c.314-1310C>T (n.314-1310C>T) n.499C>T n.466C>T | ClinVar dbSNP |
19 | g.11105256A>C | CA404076275 | LDLR | c.608A>C (p.His203Pro) c.350A>C (p.His117Pro) c.604A>C c.314-2136A>C (n.314-2136A>C) c.227A>C (p.His76Pro) c.314-1309A>C (n.314-1309A>C) n.500A>C n.467A>C | |
19 | g.11105256A>G | CA404076273 | LDLR | c.608A>G (p.His203Arg) c.350A>G (p.His117Arg) c.604A>G c.314-2136A>G (n.314-2136A>G) c.227A>G (p.His76Arg) c.314-1309A>G (n.314-1309A>G) n.500A>G n.467A>G | |
19 | g.11105256A>T | CA404076274 | LDLR | c.608A>T (p.His203Leu) c.350A>T (p.His117Leu) c.604A>T c.314-2136A>T (n.314-2136A>T) c.227A>T (p.His76Leu) c.314-1309A>T (n.314-1309A>T) n.500A>T n.467A>T | |
19 | g.11105256_11105278dup | CA10584867 | LDLR | c.608_630dup (p.Gln211ThrfsTer?) c.350_372dup (p.Gln125ThrfsTer?) c.604_626dup c.314-2136_314-2114dup (n.314-2136_314-2114dup) c.227_249dup (p.Gln84ThrfsTer?) c.314-1309_314-1287dup (n.314-1309_314-1287dup) n.500_522dup n.467_489dup | ClinVar dbSNP |
19 | g.11105257C>A | CA404076276 | LDLR | c.609C>A (p.His203Gln) c.351C>A (p.His117Gln) c.605C>A c.314-2135C>A (n.314-2135C>A) c.228C>A (p.His76Gln) c.314-1308C>A (n.314-1308C>A) n.501C>A n.468C>A | |
19 | g.11105257C= | CA2322767301 | LDLR | c.609C= (p.His203=) c.351C= (p.His117=) c.605C= c.314-2135C= (n.314-2135C=) c.228C= (p.His76=) c.314-1308C= (n.314-1308C=) n.501C= n.468C= | |
19 | g.11105257C>G | CA404076277 | LDLR | c.609C>G (p.His203Gln) c.351C>G (p.His117Gln) c.605C>G c.314-2135C>G (n.314-2135C>G) c.228C>G (p.His76Gln) c.314-1308C>G (n.314-1308C>G) n.501C>G n.468C>G | |
19 | g.11105257C>T | CA043262 | LDLR | c.609C>T (p.His203=) c.351C>T (p.His117=) c.605C>T c.314-2135C>T (n.314-2135C>T) c.228C>T (p.His76=) c.314-1308C>T (n.314-1308C>T) n.501C>T n.468C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105257_11105258insTTCC | CA2573050568 | LDLR | c.609_610insTTCC (p.Asp204PhefsTer13) c.351_352insTTCC (p.Asp118PhefsTer13) c.605_606insTTCC c.314-2135_314-2134insTTCC (n.314-2135_314-2134insTTCC) c.228_229insTTCC (p.Asp77PhefsTer13) c.314-1308_314-1307insTTCC (n.314-1308_314-1307insTTCC) n.501_502insTTCC n.468_469insTTCC | |
19 | g.11105258G>A | CA10583773 | LDLR | c.610G>A (p.Asp204Asn) c.352G>A (p.Asp118Asn) c.606G>A c.314-2134G>A (n.314-2134G>A) c.229G>A (p.Asp77Asn) c.314-1307G>A (n.314-1307G>A) n.502G>A n.469G>A | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11105258G>C | CA404076278 | LDLR | c.610G>C (p.Asp204His) c.352G>C (p.Asp118His) c.606G>C c.314-2134G>C (n.314-2134G>C) c.229G>C (p.Asp77His) c.314-1307G>C (n.314-1307G>C) n.502G>C n.469G>C | |
19 | g.11105258G= | CA2322767302 | LDLR | c.610G= (p.Asp204=) c.352G= (p.Asp118=) c.606G= c.314-2134G= (n.314-2134G=) c.229G= (p.Asp77=) c.314-1307G= (n.314-1307G=) n.502G= n.469G= | |
19 | g.11105258G>T | CA023697 | LDLR | c.610G>T (p.Asp204Tyr) c.352G>T (p.Asp118Tyr) c.606G>T c.314-2134G>T (n.314-2134G>T) c.229G>T (p.Asp77Tyr) c.314-1307G>T (n.314-1307G>T) n.502G>T n.469G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105258_11105259delinsGA | CA2322767303 | LDLR | c.610_611delinsGA (p.Asp204=) c.352_353delinsGA (p.Asp118=) c.606_607delinsGA c.314-2134_314-2133delinsGA (n.314-2134_314-2133delinsGA) c.229_230delinsGA (p.Asp77=) c.314-1307_314-1306delinsGA (n.314-1307_314-1306delinsGA) n.502_503delinsGA n.469_470delinsGA | |
19 | g.11105259del | CA10584868 | LDLR | c.611del (p.Asp204ValfsTer?) c.353del (p.Asp118ValfsTer?) c.607del c.314-2133del (n.314-2133del) c.230del (p.Asp77ValfsTer?) c.314-1306del (n.314-1306del) n.503del n.470del | ClinVar dbSNP |
19 | g.11105259A= | CA2322767305 | LDLR | c.611A= (p.Asp204=) c.353A= (p.Asp118=) c.607A= c.314-2133A= (n.314-2133A=) c.230A= (p.Asp77=) c.314-1306A= (n.314-1306A=) n.503A= n.470A= | |
19 | g.11105259A>C | CA404076279 | LDLR | c.611A>C (p.Asp204Ala) c.353A>C (p.Asp118Ala) c.607A>C c.314-2133A>C (n.314-2133A>C) c.230A>C (p.Asp77Ala) c.314-1306A>C (n.314-1306A>C) n.503A>C n.470A>C | ClinVar |
19 | g.11105259A>G | CA404076280 | LDLR | c.611A>G (p.Asp204Gly) c.353A>G (p.Asp118Gly) c.607A>G c.314-2133A>G (n.314-2133A>G) c.230A>G (p.Asp77Gly) c.314-1306A>G (n.314-1306A>G) n.503A>G n.470A>G | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105259A>T | CA404076281 | LDLR | c.611A>T (p.Asp204Val) c.353A>T (p.Asp118Val) c.607A>T c.314-2133A>T (n.314-2133A>T) c.230A>T (p.Asp77Val) c.314-1306A>T (n.314-1306A>T) n.503A>T n.470A>T | |
19 | g.11105259_11105262delinsATGG | CA2322767306 | LDLR | c.611_614delinsATGG (p.Asp204=) c.353_356delinsATGG (p.Asp118=) c.607_610delinsATGG c.314-2133_314-2130delinsATGG (n.314-2133_314-2130delinsATGG) c.230_233delinsATGG (p.Asp77=) c.314-1306_314-1303delinsATGG (n.314-1306_314-1303delinsATGG) n.503_506delinsATGG n.470_473delinsATGG | |
19 | g.11105259_11105266delinsATGGGAAG | CA2322767304 | LDLR | c.611_618delinsATGGGAAG (p.Asp204=) c.353_360delinsATGGGAAG (p.Asp118=) c.607_614delinsATGGGAAG c.314-2133_314-2126delinsATGGGAAG (n.314-2133_314-2126delinsATGGGAAG) c.230_237delinsATGGGAAG (p.Asp77=) c.314-1306_314-1299delinsATGGGAAG (n.314-1306_314-1299delinsATGGGAAG) n.503_510delinsATGGGAAG n.470_477delinsATGGGAAG | |
19 | g.11105260T>A | CA404076282 | LDLR | c.612T>A (p.Asp204Glu) c.354T>A (p.Asp118Glu) c.608T>A c.314-2132T>A (n.314-2132T>A) c.231T>A (p.Asp77Glu) c.314-1305T>A (n.314-1305T>A) n.504T>A n.471T>A | |
19 | g.11105260T>C | CA505742175 | LDLR | c.612T>C (p.Asp204=) c.354T>C (p.Asp118=) c.608T>C c.314-2132T>C (n.314-2132T>C) c.231T>C (p.Asp77=) c.314-1305T>C (n.314-1305T>C) n.504T>C n.471T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105260T>G | CA404076283 | LDLR | c.612T>G (p.Asp204Glu) c.354T>G (p.Asp118Glu) c.608T>G c.314-2132T>G (n.314-2132T>G) c.231T>G (p.Asp77Glu) c.314-1305T>G (n.314-1305T>G) n.504T>G n.471T>G | |
19 | g.11105260T= | CA2322767308 | LDLR | c.612T= (p.Asp204=) c.354T= (p.Asp118=) c.608T= c.314-2132T= (n.314-2132T=) c.231T= (p.Asp77=) c.314-1305T= (n.314-1305T=) n.504T= n.471T= | |
19 | g.11105260_11105261delinsTG | CA2322767307 | LDLR | c.612_613delinsTG (p.Asp204=) c.354_355delinsTG (p.Asp118=) c.608_609delinsTG c.314-2132_314-2131delinsTG (n.314-2132_314-2131delinsTG) c.231_232delinsTG (p.Asp77=) c.314-1305_314-1304delinsTG (n.314-1305_314-1304delinsTG) n.504_505delinsTG n.471_472delinsTG | |
19 | g.11105260_11105262del | CA10584869 | LDLR | c.612_614del (p.Asp204_Gly205delinsGlu) c.354_356del (p.Asp118_Gly119delinsGlu) c.608_610del c.314-2132_314-2130del (n.314-2132_314-2130del) c.231_233del (p.Asp77_Gly78delinsGlu) c.314-1305_314-1303del (n.314-1305_314-1303del) n.504_506del n.471_473del | ClinVar dbSNP |
19 | g.11105262_11105268del | CA10584870 | LDLR | c.614_620del (p.Gly205AlafsTer?) c.356_362del (p.Gly119AlafsTer?) c.610_616del c.314-2130_314-2124del (n.314-2130_314-2124del) c.233_239del (p.Gly78AlafsTer?) c.314-1303_314-1297del (n.314-1303_314-1297del) n.506_512del n.473_479del | ClinVar dbSNP |
19 | g.11105260_11105261insTGGC | CA2497030113 | LDLR | c.612_613insTGGC (p.Gly205TrpfsTer12) c.354_355insTGGC (p.Gly119TrpfsTer12) c.608_609insTGGC c.314-2132_314-2131insTGGC (n.314-2132_314-2131insTGGC) c.231_232insTGGC (p.Gly78TrpfsTer12) c.314-1305_314-1304insTGGC (n.314-1305_314-1304insTGGC) n.504_505insTGGC n.471_472insTGGC | |
19 | g.11105261G>A | CA358786 | LDLR | c.613G>A (p.Gly205Arg) c.355G>A (p.Gly119Arg) c.609G>A c.314-2131G>A (n.314-2131G>A) c.232G>A (p.Gly78Arg) c.314-1304G>A (n.314-1304G>A) n.505G>A n.472G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105261G>C | CA404076284 | LDLR | c.613G>C (p.Gly205Arg) c.355G>C (p.Gly119Arg) c.609G>C c.314-2131G>C (n.314-2131G>C) c.232G>C (p.Gly78Arg) c.314-1304G>C (n.314-1304G>C) n.505G>C n.472G>C | |
19 | g.11105261G= | CA2322767309 | LDLR | c.613G= (p.Gly205=) c.355G= (p.Gly119=) c.609G= c.314-2131G= (n.314-2131G=) c.232G= (p.Gly78=) c.314-1304G= (n.314-1304G=) n.505G= n.472G= | |
19 | g.11105261G>T | CA404076285 | LDLR | c.613G>T (p.Gly205Trp) c.355G>T (p.Gly119Trp) c.609G>T c.314-2131G>T (n.314-2131G>T) c.232G>T (p.Gly78Trp) c.314-1304G>T (n.314-1304G>T) n.505G>T n.472G>T | |
19 | g.11105263del | CA10584871 | LDLR | c.615del (p.Lys206SerfsTer?) c.357del (p.Lys120SerfsTer?) c.611del c.314-2129del (n.314-2129del) c.234del (p.Lys79SerfsTer?) c.314-1302del (n.314-1302del) n.507del n.474del | ClinVar dbSNP |
19 | g.11105261_11105262insTTCC | CA2695223192 | LDLR | c.613_614insTTCC (p.Gly205ValfsTer12) c.355_356insTTCC (p.Gly119ValfsTer12) c.609_610insTTCC c.314-2131_314-2130insTTCC (n.314-2131_314-2130insTTCC) c.232_233insTTCC (p.Gly78ValfsTer12) c.314-1304_314-1303insTTCC (n.314-1304_314-1303insTTCC) n.505_506insTTCC n.472_473insTTCC | |
19 | g.11105262G>A | CA404076286 | LDLR | c.614G>A (p.Gly205Glu) c.356G>A (p.Gly119Glu) c.610G>A c.314-2130G>A (n.314-2130G>A) c.233G>A (p.Gly78Glu) c.314-1303G>A (n.314-1303G>A) n.506G>A n.473G>A | |
19 | g.11105262G>C | CA404076287 | LDLR | c.614G>C (p.Gly205Ala) c.356G>C (p.Gly119Ala) c.610G>C c.314-2130G>C (n.314-2130G>C) c.233G>C (p.Gly78Ala) c.314-1303G>C (n.314-1303G>C) n.506G>C n.473G>C | dbSNP gnomAD v4 |
19 | g.11105262G>T | CA404076288 | LDLR | c.614G>T (p.Gly205Val) c.356G>T (p.Gly119Val) c.610G>T c.314-2130G>T (n.314-2130G>T) c.233G>T (p.Gly78Val) c.314-1303G>T (n.314-1303G>T) n.506G>T n.473G>T | |
19 | g.11105263G>A | CA505742177 | LDLR | c.615G>A (p.Gly205=) c.357G>A (p.Gly119=) c.611G>A c.314-2129G>A (n.314-2129G>A) c.234G>A (p.Gly78=) c.314-1302G>A (n.314-1302G>A) n.507G>A n.474G>A | |
19 | g.11105263G>C | CA505742178 | LDLR | c.615G>C (p.Gly205=) c.357G>C (p.Gly119=) c.611G>C c.314-2129G>C (n.314-2129G>C) c.234G>C (p.Gly78=) c.314-1302G>C (n.314-1302G>C) n.507G>C n.474G>C | |
19 | g.11105263G>T | CA505742179 | LDLR | c.615G>T (p.Gly205=) c.357G>T (p.Gly119=) c.611G>T c.314-2129G>T (n.314-2129G>T) c.234G>T (p.Gly78=) c.314-1302G>T (n.314-1302G>T) n.507G>T n.474G>T | |
19 | g.11105264A>C | CA404076289 | LDLR | c.616A>C (p.Lys206Gln) c.358A>C (p.Lys120Gln) c.612A>C c.314-2128A>C (n.314-2128A>C) c.235A>C (p.Lys79Gln) c.314-1301A>C (n.314-1301A>C) n.508A>C n.475A>C | |
19 | g.11105264A>G | CA404076290 | LDLR | c.616A>G (p.Lys206Glu) c.358A>G (p.Lys120Glu) c.612A>G c.314-2128A>G (n.314-2128A>G) c.235A>G (p.Lys79Glu) c.314-1301A>G (n.314-1301A>G) n.508A>G n.475A>G | |
19 | g.11105264A>T | CA404076291 | LDLR | c.616A>T (p.Lys206Ter) c.358A>T (p.Lys120Ter) c.612A>T c.314-2128A>T (n.314-2128A>T) c.235A>T (p.Lys79Ter) c.314-1301A>T (n.314-1301A>T) n.508A>T n.475A>T | |
19 | g.11105264_11105267del | CA2735610855 | LDLR | c.616_619del (p.Lys206AlafsTer?) c.358_361del (p.Lys120AlafsTer?) c.612_615del c.314-2128_314-2125del (n.314-2128_314-2125del) c.235_238del (p.Lys79AlafsTer?) c.314-1301_314-1298del (n.314-1301_314-1298del) n.508_511del n.475_478del | dbSNP |
19 | g.11105264_11105279delinsAAGTGCATCTCTCGGC | CA2322767310 | LDLR | c.616_631delinsAAGTGCATCTCTCGGC (p.Lys206=) c.358_373delinsAAGTGCATCTCTCGGC (p.Lys120=) c.612_627delinsAAGTGCATCTCTCGGC c.314-2128_314-2113delinsAAGTGCATCTCTCGGC (n.314-2128_314-2113delinsAAGTGCATCTCTCGGC) c.235_250delinsAAGTGCATCTCTCGGC (p.Lys79=) c.314-1301_314-1286delinsAAGTGCATCTCTCGGC (n.314-1301_314-1286delinsAAGTGCATCTCTCGGC) n.508_523delinsAAGTGCATCTCTCGGC n.475_490delinsAAGTGCATCTCTCGGC | |
19 | g.11105265A= | CA2322767311 | LDLR | c.617A= (p.Lys206=) c.359A= (p.Lys120=) c.613A= c.314-2127A= (n.314-2127A=) c.236A= (p.Lys79=) c.314-1300A= (n.314-1300A=) n.509A= n.476A= | |
19 | g.11105265A>C | CA404076292 | LDLR | c.617A>C (p.Lys206Thr) c.359A>C (p.Lys120Thr) c.613A>C c.314-2127A>C (n.314-2127A>C) c.236A>C (p.Lys79Thr) c.314-1300A>C (n.314-1300A>C) n.509A>C n.476A>C | |
19 | g.11105265A>G | CA404076293 | LDLR | c.617A>G (p.Lys206Arg) c.359A>G (p.Lys120Arg) c.613A>G c.314-2127A>G (n.314-2127A>G) c.236A>G (p.Lys79Arg) c.314-1300A>G (n.314-1300A>G) n.509A>G n.476A>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105265A>T | CA404076294 | LDLR | c.617A>T (p.Lys206Met) c.359A>T (p.Lys120Met) c.613A>T c.314-2127A>T (n.314-2127A>T) c.236A>T (p.Lys79Met) c.314-1300A>T (n.314-1300A>T) n.509A>T n.476A>T | |
19 | g.11105268_11105282del | CA658653698 | LDLR | c.620_634del (p.Cys207_Gln211del) c.362_376del (p.Cys121_Gln125del) c.616_630del c.314-2124_314-2110del (n.314-2124_314-2110del) c.239_253del (p.Cys80_Gln84del) c.314-1297_314-1283del (n.314-1297_314-1283del) n.512_526del n.479_493del | ClinVar dbSNP |
19 | g.11105266G>A | CA505742180 | LDLR | c.618G>A (p.Lys206=) c.360G>A (p.Lys120=) c.614G>A c.314-2126G>A (n.314-2126G>A) c.237G>A (p.Lys79=) c.314-1299G>A (n.314-1299G>A) n.510G>A n.477G>A | gnomAD v4 |
19 | g.11105266G>C | CA404076296 | LDLR | c.618G>C (p.Lys206Asn) c.360G>C (p.Lys120Asn) c.614G>C c.314-2126G>C (n.314-2126G>C) c.237G>C (p.Lys79Asn) c.314-1299G>C (n.314-1299G>C) n.510G>C n.477G>C | |
19 | g.11105266G>T | CA404076295 | LDLR | c.618G>T (p.Lys206Asn) c.360G>T (p.Lys120Asn) c.614G>T c.314-2126G>T (n.314-2126G>T) c.237G>T (p.Lys79Asn) c.314-1299G>T (n.314-1299G>T) n.510G>T n.477G>T | |
19 | g.11105267T>A | CA10584872 | LDLR | c.619T>A (p.Cys207Ser) c.361T>A (p.Cys121Ser) c.615T>A c.314-2125T>A (n.314-2125T>A) c.238T>A (p.Cys80Ser) c.314-1298T>A (n.314-1298T>A) n.511T>A n.478T>A | ClinVar dbSNP |
19 | g.11105267T>C | CA10584873 | LDLR | c.619T>C (p.Cys207Arg) c.361T>C (p.Cys121Arg) c.615T>C c.314-2125T>C (n.314-2125T>C) c.238T>C (p.Cys80Arg) c.314-1298T>C (n.314-1298T>C) n.511T>C n.478T>C | ClinVar dbSNP |
19 | g.11105267T>G | CA10584874 | LDLR | c.619T>G (p.Cys207Gly) c.361T>G (p.Cys121Gly) c.615T>G c.314-2125T>G (n.314-2125T>G) c.238T>G (p.Cys80Gly) c.314-1298T>G (n.314-1298T>G) n.511T>G n.478T>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105267T= | CA2322767312 | LDLR | c.619T= (p.Cys207=) c.361T= (p.Cys121=) c.615T= c.314-2125T= (n.314-2125T=) c.238T= (p.Cys80=) c.314-1298T= (n.314-1298T=) n.511T= n.478T= | |
19 | g.11105268G>A | CA023699 | LDLR | c.620G>A (p.Cys207Tyr) c.362G>A (p.Cys121Tyr) c.616G>A c.314-2124G>A (n.314-2124G>A) c.239G>A (p.Cys80Tyr) c.314-1297G>A (n.314-1297G>A) n.512G>A n.479G>A | ClinVar dbSNP |
19 | g.11105268G>C | CA10584875 | LDLR | c.620G>C (p.Cys207Ser) c.362G>C (p.Cys121Ser) c.616G>C c.314-2124G>C (n.314-2124G>C) c.239G>C (p.Cys80Ser) c.314-1297G>C (n.314-1297G>C) n.512G>C n.479G>C | ClinVar dbSNP |
19 | g.11105268G= | CA2322767313 | LDLR | c.620G= (p.Cys207=) c.362G= (p.Cys121=) c.616G= c.314-2124G= (n.314-2124G=) c.239G= (p.Cys80=) c.314-1297G= (n.314-1297G=) n.512G= n.479G= | |
19 | g.11105268G>T | CA10584876 | LDLR | c.620G>T (p.Cys207Phe) c.362G>T (p.Cys121Phe) c.616G>T c.314-2124G>T (n.314-2124G>T) c.239G>T (p.Cys80Phe) c.314-1297G>T (n.314-1297G>T) n.512G>T n.479G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105269C>A | CA404076298 | LDLR | c.621C>A (p.Cys207Ter) c.363C>A (p.Cys121Ter) c.617C>A c.314-2123C>A (n.314-2123C>A) c.240C>A (p.Cys80Ter) c.314-1296C>A (n.314-1296C>A) n.513C>A n.480C>A | |
19 | g.11105269C= | CA2322767314 | LDLR | c.621C= (p.Cys207=) c.363C= (p.Cys121=) c.617C= c.314-2123C= (n.314-2123C=) c.240C= (p.Cys80=) c.314-1296C= (n.314-1296C=) n.513C= n.480C= | |
19 | g.11105269C>G | CA404076297 | LDLR | c.621C>G (p.Cys207Trp) c.363C>G (p.Cys121Trp) c.617C>G c.314-2123C>G (n.314-2123C>G) c.240C>G (p.Cys80Trp) c.314-1296C>G (n.314-1296C>G) n.513C>G n.480C>G | ClinVar dbSNP |
19 | g.11105269C>T | CA505742181 | LDLR | c.621C>T (p.Cys207=) c.363C>T (p.Cys121=) c.617C>T c.314-2123C>T (n.314-2123C>T) c.240C>T (p.Cys80=) c.314-1296C>T (n.314-1296C>T) n.513C>T n.480C>T | ClinVar dbSNP |
19 | g.11105270A= | CA2322767316 | LDLR | c.622A= (p.Ile208=) c.364A= (p.Ile122=) c.618A= c.314-2122A= (n.314-2122A=) c.241A= (p.Ile81=) c.314-1295A= (n.314-1295A=) n.514A= n.481A= | |
19 | g.11105270A>C | CA404076299 | LDLR | c.622A>C (p.Ile208Leu) c.364A>C (p.Ile122Leu) c.618A>C c.314-2122A>C (n.314-2122A>C) c.241A>C (p.Ile81Leu) c.314-1295A>C (n.314-1295A>C) n.514A>C n.481A>C | ClinVar gnomAD v4 |
19 | g.11105270A>G | CA404076300 | LDLR | c.622A>G (p.Ile208Val) c.364A>G (p.Ile122Val) c.618A>G c.314-2122A>G (n.314-2122A>G) c.241A>G (p.Ile81Val) c.314-1295A>G (n.314-1295A>G) n.514A>G n.481A>G | gnomAD v4 |
19 | g.11105270A>T | CA10584877 | LDLR | c.622A>T (p.Ile208Phe) c.364A>T (p.Ile122Phe) c.618A>T c.314-2122A>T (n.314-2122A>T) c.241A>T (p.Ile81Phe) c.314-1295A>T (n.314-1295A>T) n.514A>T n.481A>T | ClinVar dbSNP |
19 | g.11105270_11105272delinsATC | CA2322767315 | LDLR | c.622_624delinsATC (p.Ile208=) c.364_366delinsATC (p.Ile122=) c.618_620delinsATC c.314-2122_314-2120delinsATC (n.314-2122_314-2120delinsATC) c.241_243delinsATC (p.Ile81=) c.314-1295_314-1293delinsATC (n.314-1295_314-1293delinsATC) n.514_516delinsATC n.481_483delinsATC | |
19 | g.11105271T>A | CA404076301 | LDLR | c.623T>A (p.Ile208Asn) c.365T>A (p.Ile122Asn) c.619T>A c.314-2121T>A (n.314-2121T>A) c.242T>A (p.Ile81Asn) c.314-1294T>A (n.314-1294T>A) n.515T>A n.482T>A | |
19 | g.11105271T>C | CA404076302 | LDLR | c.623T>C (p.Ile208Thr) c.365T>C (p.Ile122Thr) c.619T>C c.314-2121T>C (n.314-2121T>C) c.242T>C (p.Ile81Thr) c.314-1294T>C (n.314-1294T>C) n.515T>C n.482T>C | |
19 | g.11105271T>G | CA404076303 | LDLR | c.623T>G (p.Ile208Ser) c.365T>G (p.Ile122Ser) c.619T>G c.314-2121T>G (n.314-2121T>G) c.242T>G (p.Ile81Ser) c.314-1294T>G (n.314-1294T>G) n.515T>G n.482T>G | |
19 | g.11105271T= | CA2322767317 | LDLR | c.623T= (p.Ile208=) c.365T= (p.Ile122=) c.619T= c.314-2121T= (n.314-2121T=) c.242T= (p.Ile81=) c.314-1294T= (n.314-1294T=) n.515T= n.482T= | |
19 | g.11105275_11105276dup | CA2695238676 | LDLR | c.627_628dup (p.Arg210LeufsTer?) c.369_370dup (p.Arg124LeufsTer?) c.623_624dup c.314-2117_314-2116dup (n.314-2117_314-2116dup) c.246_247dup (p.Arg83LeufsTer?) c.314-1290_314-1289dup (n.314-1290_314-1289dup) n.519_520dup n.486_487dup | |
19 | g.11105275_11105276del | CA10584881 | LDLR | c.627_628del (p.Arg210AlafsTer5) c.369_370del (p.Arg124AlafsTer5) c.623_624del c.314-2117_314-2116del (n.314-2117_314-2116del) c.246_247del (p.Arg83AlafsTer5) c.314-1290_314-1289del (n.314-1290_314-1289del) n.519_520del n.486_487del | ClinVar dbSNP |
19 | g.11105272C>A | CA505742183 | LDLR | c.624C>A (p.Ile208=) c.366C>A (p.Ile122=) c.620C>A c.314-2120C>A (n.314-2120C>A) c.243C>A (p.Ile81=) c.314-1293C>A (n.314-1293C>A) n.516C>A n.483C>A | |
19 | g.11105272C= | CA2322767318 | LDLR | c.624C= (p.Ile208=) c.366C= (p.Ile122=) c.620C= c.314-2120C= (n.314-2120C=) c.243C= (p.Ile81=) c.314-1293C= (n.314-1293C=) n.516C= n.483C= | |
19 | g.11105272C>G | CA404076304 | LDLR | c.624C>G (p.Ile208Met) c.366C>G (p.Ile122Met) c.620C>G c.314-2120C>G (n.314-2120C>G) c.243C>G (p.Ile81Met) c.314-1293C>G (n.314-1293C>G) n.516C>G n.483C>G | |
19 | g.11105272C>T | CA043309 | LDLR | c.624C>T (p.Ile208=) c.366C>T (p.Ile122=) c.620C>T c.314-2120C>T (n.314-2120C>T) c.243C>T (p.Ile81=) c.314-1293C>T (n.314-1293C>T) n.516C>T n.483C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105272dup | CA10584878 | LDLR | c.624dup (p.Ser209LeufsTer7) c.366dup (p.Ser123LeufsTer7) c.620dup c.314-2120dup (n.314-2120dup) c.243dup (p.Ser82LeufsTer7) c.314-1293dup (n.314-1293dup) n.516dup n.483dup | ClinVar dbSNP |
19 | g.11105273T>A | CA10584879 | LDLR | c.625T>A (p.Ser209Thr) c.367T>A (p.Ser123Thr) c.621T>A c.314-2119T>A (n.314-2119T>A) c.244T>A (p.Ser82Thr) c.314-1292T>A (n.314-1292T>A) n.517T>A n.484T>A | ClinVar dbSNP |
19 | g.11105273T>C | CA10584880 | LDLR | c.625T>C (p.Ser209Pro) c.367T>C (p.Ser123Pro) c.621T>C c.314-2119T>C (n.314-2119T>C) c.244T>C (p.Ser82Pro) c.314-1292T>C (n.314-1292T>C) n.517T>C n.484T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105273T>G | CA404076305 | LDLR | c.625T>G (p.Ser209Ala) c.367T>G (p.Ser123Ala) c.621T>G c.314-2119T>G (n.314-2119T>G) c.244T>G (p.Ser82Ala) c.314-1292T>G (n.314-1292T>G) n.517T>G n.484T>G | |
19 | g.11105273T= | CA2322767319 | LDLR | c.625T= (p.Ser209=) c.367T= (p.Ser123=) c.621T= c.314-2119T= (n.314-2119T=) c.244T= (p.Ser82=) c.314-1292T= (n.314-1292T=) n.517T= n.484T= | |
19 | g.11105273_11105298delinsTCTCGGCAGTTCGTCTGTGACTCAGA | CA2322767320 | LDLR | c.625_650delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser209=) c.367_392delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser123=) c.621_646delinsTCTCGGCAGTTCGTCTGTGACTCAGA c.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-2119_314-2094delinsTCTCGGCAGTTCGTCTGTGACTCAGA) c.244_269delinsTCTCGGCAGTTCGTCTGTGACTCAGA (p.Ser82=) c.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA (n.314-1292_314-1267delinsTCTCGGCAGTTCGTCTGTGACTCAGA) n.517_542delinsTCTCGGCAGTTCGTCTGTGACTCAGA n.484_509delinsTCTCGGCAGTTCGTCTGTGACTCAGA | |
19 | g.11105274C>A | CA404076307 | LDLR | c.626C>A (p.Ser209Tyr) c.368C>A (p.Ser123Tyr) c.622C>A c.314-2118C>A (n.314-2118C>A) c.245C>A (p.Ser82Tyr) c.314-1291C>A (n.314-1291C>A) n.518C>A n.485C>A | |
19 | g.11105274C= | CA2322767321 | LDLR | c.626C= (p.Ser209=) c.368C= (p.Ser123=) c.622C= c.314-2118C= (n.314-2118C=) c.245C= (p.Ser82=) c.314-1291C= (n.314-1291C=) n.518C= n.485C= | |
19 | g.11105274C>G | CA404076306 | LDLR | c.626C>G (p.Ser209Cys) c.368C>G (p.Ser123Cys) c.622C>G c.314-2118C>G (n.314-2118C>G) c.245C>G (p.Ser82Cys) c.314-1291C>G (n.314-1291C>G) n.518C>G n.485C>G | ClinVar dbSNP |
19 | g.11105274C>T | CA404076308 | LDLR | c.626C>T (p.Ser209Phe) c.368C>T (p.Ser123Phe) c.622C>T c.314-2118C>T (n.314-2118C>T) c.245C>T (p.Ser82Phe) c.314-1291C>T (n.314-1291C>T) n.518C>T n.485C>T | dbSNP |
19 | g.11105275_11105299del | CA10584882 | LDLR | c.627_651del (p.Arg210GlyfsTer?) c.369_393del (p.Arg124GlyfsTer?) c.623_647del c.314-2117_314-2093del (n.314-2117_314-2093del) c.246_270del (p.Arg83GlyfsTer?) c.314-1290_314-1266del (n.314-1290_314-1266del) n.519_543del n.486_510del | ClinVar dbSNP |
19 | g.11105275T>A | CA505742184 | LDLR | c.627T>A (p.Ser209=) c.369T>A (p.Ser123=) c.623T>A c.314-2117T>A (n.314-2117T>A) c.246T>A (p.Ser82=) c.314-1290T>A (n.314-1290T>A) n.519T>A n.486T>A | |
19 | g.11105275T>C | CA505742185 | LDLR | c.627T>C (p.Ser209=) c.369T>C (p.Ser123=) c.623T>C c.314-2117T>C (n.314-2117T>C) c.246T>C (p.Ser82=) c.314-1290T>C (n.314-1290T>C) n.519T>C n.486T>C | |
19 | g.11105275T>G | CA043324 | LDLR | c.627T>G (p.Ser209=) c.369T>G (p.Ser123=) c.623T>G c.314-2117T>G (n.314-2117T>G) c.246T>G (p.Ser82=) c.314-1290T>G (n.314-1290T>G) n.519T>G n.486T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105275T= | CA2322767323 | LDLR | c.627T= (p.Ser209=) c.369T= (p.Ser123=) c.623T= c.314-2117T= (n.314-2117T=) c.246T= (p.Ser82=) c.314-1290T= (n.314-1290T=) n.519T= n.486T= | |
19 | g.11105275_11105277delinsTCG | CA2322767322 | LDLR | c.627_629delinsTCG (p.Ser209=) c.369_371delinsTCG (p.Ser123=) c.623_625delinsTCG c.314-2117_314-2115delinsTCG (n.314-2117_314-2115delinsTCG) c.246_248delinsTCG (p.Ser82=) c.314-1290_314-1288delinsTCG (n.314-1290_314-1288delinsTCG) n.519_521delinsTCG n.486_488delinsTCG | |
19 | g.11105275_11105276insGCCA | CA2322767324 | LDLR | c.627_628insGCCA (p.Arg210AlafsTer7) c.369_370insGCCA (p.Arg124AlafsTer7) c.623_624insGCCA c.314-2117_314-2116insGCCA (n.314-2117_314-2116insGCCA) c.246_247insGCCA (p.Arg83AlafsTer7) c.314-1290_314-1289insGCCA (n.314-1290_314-1289insGCCA) n.519_520insGCCA n.486_487insGCCA | dbSNP |
19 | g.11105276C>A | CA505742186 | LDLR | c.628C>A (p.Arg210=) c.370C>A (p.Arg124=) c.624C>A c.314-2116C>A (n.314-2116C>A) c.247C>A (p.Arg83=) c.314-1289C>A (n.314-1289C>A) n.520C>A n.487C>A | |
19 | g.11105276C= | CA2322767325 | LDLR | c.628C= (p.Arg210=) c.370C= (p.Arg124=) c.624C= c.314-2116C= (n.314-2116C=) c.247C= (p.Arg83=) c.314-1289C= (n.314-1289C=) n.520C= n.487C= | |
19 | g.11105276C>G | CA10584883 | LDLR | c.628C>G (p.Arg210Gly) c.370C>G (p.Arg124Gly) c.624C>G c.314-2116C>G (n.314-2116C>G) c.247C>G (p.Arg83Gly) c.314-1289C>G (n.314-1289C>G) n.520C>G n.487C>G | ClinVar dbSNP |
19 | g.11105276C>T | CA10584884 | LDLR | c.628C>T (p.Arg210Trp) c.370C>T (p.Arg124Trp) c.624C>T c.314-2116C>T (n.314-2116C>T) c.247C>T (p.Arg83Trp) c.314-1289C>T (n.314-1289C>T) n.520C>T n.487C>T | ClinVar dbSNP gnomAD v4 COSMIC |
19 | g.11105276dup | CA10654843 | LDLR | c.628dup (p.Arg210ProfsTer6) c.370dup (p.Arg124ProfsTer6) c.624dup c.314-2116dup (n.314-2116dup) c.247dup (p.Arg83ProfsTer6) c.314-1289dup (n.314-1289dup) n.520dup n.487dup | ClinVar dbSNP |
19 | g.11105276_11105277delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT | CA1139666290 | LDLR | c.628_629delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg210delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.370_371delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg124delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.624_625delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT c.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-2116_314-2115delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT) c.247_248delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (p.Arg83delinsAlaThrMetGlySerAlaSerLeuProArgTrpGluVal) c.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT (n.314-1289_314-1288delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT) n.520_521delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT n.487_488delinsGCCACGATGGGAAGTGCATCGCTGCCACGATGGGAAGT | ClinVar dbSNP |
19 | g.11105277G>A | CA305296763 | LDLR | c.629G>A (p.Arg210Gln) c.371G>A (p.Arg124Gln) c.625G>A c.314-2115G>A (n.314-2115G>A) c.248G>A (p.Arg83Gln) c.314-1288G>A (n.314-1288G>A) n.521G>A n.488G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105277G>C | CA404076309 | LDLR | c.629G>C (p.Arg210Pro) c.371G>C (p.Arg124Pro) c.625G>C c.314-2115G>C (n.314-2115G>C) c.248G>C (p.Arg83Pro) c.314-1288G>C (n.314-1288G>C) n.521G>C n.488G>C | ClinVar dbSNP |
19 | g.11105277G= | CA2322767326 | LDLR | c.629G= (p.Arg210=) c.371G= (p.Arg124=) c.625G= c.314-2115G= (n.314-2115G=) c.248G= (p.Arg83=) c.314-1288G= (n.314-1288G=) n.521G= n.488G= | |
19 | g.11105277G>T | CA404076310 | LDLR | c.629G>T (p.Arg210Leu) c.371G>T (p.Arg124Leu) c.625G>T c.314-2115G>T (n.314-2115G>T) c.248G>T (p.Arg83Leu) c.314-1288G>T (n.314-1288G>T) n.521G>T n.488G>T | |
19 | g.11105278del | CA2695223193 | LDLR | c.630del (p.Gln211SerfsTer?) c.372del (p.Gln125SerfsTer?) c.626del c.314-2114del (n.314-2114del) c.249del (p.Gln84SerfsTer?) c.314-1287del (n.314-1287del) n.522del n.489del | |
19 | g.11105277_11105278insC | CA10584885 | LDLR | c.629_630insC (p.Gln211AlafsTer5) c.371_372insC (p.Gln125AlafsTer5) c.625_626insC c.314-2115_314-2114insC (n.314-2115_314-2114insC) c.248_249insC (p.Gln84AlafsTer5) c.314-1288_314-1287insC (n.314-1288_314-1287insC) n.521_522insC n.488_489insC | ClinVar dbSNP |
19 | g.11105278G>A | CA505742187 | LDLR | c.630G>A (p.Arg210=) c.372G>A (p.Arg124=) c.626G>A c.314-2114G>A (n.314-2114G>A) c.249G>A (p.Arg83=) c.314-1287G>A (n.314-1287G>A) n.522G>A n.489G>A | |
19 | g.11105278G>C | CA505742188 | LDLR | c.630G>C (p.Arg210=) c.372G>C (p.Arg124=) c.626G>C c.314-2114G>C (n.314-2114G>C) c.249G>C (p.Arg83=) c.314-1287G>C (n.314-1287G>C) n.522G>C n.489G>C | |
19 | g.11105278G>T | CA505742189 | LDLR | c.630G>T (p.Arg210=) c.372G>T (p.Arg124=) c.626G>T c.314-2114G>T (n.314-2114G>T) c.249G>T (p.Arg83=) c.314-1287G>T (n.314-1287G>T) n.522G>T n.489G>T | |
19 | g.11105279_11105285del | CA2573155732 | LDLR | c.631_637del (p.Gln211SerfsTer?) c.373_379del (p.Gln125SerfsTer?) c.627_633del c.314-2113_314-2107del (n.314-2113_314-2107del) c.250_256del (p.Gln84SerfsTer?) c.314-1286_314-1280del (n.314-1286_314-1280del) n.523_529del n.490_496del | ClinVar dbSNP |
19 | g.11105279C>A | CA10576280 | LDLR | c.631C>A (p.Gln211Lys) c.373C>A (p.Gln125Lys) c.627C>A c.314-2113C>A (n.314-2113C>A) c.250C>A (p.Gln84Lys) c.314-1286C>A (n.314-1286C>A) n.523C>A n.490C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105279C= | CA2322767327 | LDLR | c.631C= (p.Gln211=) c.373C= (p.Gln125=) c.627C= c.314-2113C= (n.314-2113C=) c.250C= (p.Gln84=) c.314-1286C= (n.314-1286C=) n.523C= n.490C= | |
19 | g.11105279C>G | CA404076311 | LDLR | c.631C>G (p.Gln211Glu) c.373C>G (p.Gln125Glu) c.627C>G c.314-2113C>G (n.314-2113C>G) c.250C>G (p.Gln84Glu) c.314-1286C>G (n.314-1286C>G) n.523C>G n.490C>G | gnomAD v4 |
19 | g.11105279C>T | CA10584886 | LDLR | c.631C>T (p.Gln211Ter) c.373C>T (p.Gln125Ter) c.627C>T c.314-2113C>T (n.314-2113C>T) c.250C>T (p.Gln84Ter) c.314-1286C>T (n.314-1286C>T) n.523C>T n.490C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105279_11105289delinsAAGTGCA | CA2580096428 | LDLR | c.631_641delinsAAGTGCA (p.Gln211LysfsTer?) c.373_383delinsAAGTGCA (p.Gln125LysfsTer?) c.627_637delinsAAGTGCA c.314-2113_314-2103delinsAAGTGCA (n.314-2113_314-2103delinsAAGTGCA) c.250_260delinsAAGTGCA (p.Gln84LysfsTer?) c.314-1286_314-1276delinsAAGTGCA (n.314-1286_314-1276delinsAAGTGCA) n.523_533delinsAAGTGCA n.490_500delinsAAGTGCA | ClinVar |
19 | g.11105280A>C | CA404076314 | LDLR | c.632A>C (p.Gln211Pro) c.374A>C (p.Gln125Pro) c.628A>C c.314-2112A>C (n.314-2112A>C) c.251A>C (p.Gln84Pro) c.314-1285A>C (n.314-1285A>C) n.524A>C n.491A>C | |
19 | g.11105280A>G | CA404076312 | LDLR | c.632A>G (p.Gln211Arg) c.374A>G (p.Gln125Arg) c.628A>G c.314-2112A>G (n.314-2112A>G) c.251A>G (p.Gln84Arg) c.314-1285A>G (n.314-1285A>G) n.524A>G n.491A>G | |
19 | g.11105280A>T | CA404076313 | LDLR | c.632A>T (p.Gln211Leu) c.374A>T (p.Gln125Leu) c.628A>T c.314-2112A>T (n.314-2112A>T) c.251A>T (p.Gln84Leu) c.314-1285A>T (n.314-1285A>T) n.524A>T n.491A>T | |
19 | g.11105280_11105281insCTGA | CA10584887 | LDLR | c.632_633insCTGA (p.Gln211HisfsTer2) c.374_375insCTGA (p.Gln125HisfsTer2) c.628_629insCTGA c.314-2112_314-2111insCTGA (n.314-2112_314-2111insCTGA) c.251_252insCTGA (p.Gln84HisfsTer2) c.314-1285_314-1284insCTGA (n.314-1285_314-1284insCTGA) n.524_525insCTGA n.491_492insCTGA | ClinVar dbSNP |
19 | g.11105281G>A | CA505742190 | LDLR | c.633G>A (p.Gln211=) c.375G>A (p.Gln125=) c.629G>A c.314-2111G>A (n.314-2111G>A) c.252G>A (p.Gln84=) c.314-1284G>A (n.314-1284G>A) n.525G>A n.492G>A | ClinVar dbSNP |
19 | g.11105281G>C | CA404076315 | LDLR | c.633G>C (p.Gln211His) c.375G>C (p.Gln125His) c.629G>C c.314-2111G>C (n.314-2111G>C) c.252G>C (p.Gln84His) c.314-1284G>C (n.314-1284G>C) n.525G>C n.492G>C | ClinVar gnomAD v4 |
19 | g.11105281G>T | CA404076316 | LDLR | c.633G>T (p.Gln211His) c.375G>T (p.Gln125His) c.629G>T c.314-2111G>T (n.314-2111G>T) c.252G>T (p.Gln84His) c.314-1284G>T (n.314-1284G>T) n.525G>T n.492G>T | |
19 | g.11105281_11105287del | CA2582473458 | LDLR | c.633_639del (p.Gln211HisfsTer?) c.375_381del (p.Gln125HisfsTer?) c.629_635del c.314-2111_314-2105del (n.314-2111_314-2105del) c.252_258del (p.Gln84HisfsTer?) c.314-1284_314-1278del (n.314-1284_314-1278del) n.525_531del n.492_498del | gnomAD v4 |
19 | g.11105281_11105282insC | CA2695223194 | LDLR | c.633_634insC (p.Phe212LeufsTer4) c.375_376insC (p.Phe126LeufsTer4) c.629_630insC c.314-2111_314-2110insC (n.314-2111_314-2110insC) c.252_253insC (p.Phe85LeufsTer4) c.314-1284_314-1283insC (n.314-1284_314-1283insC) n.525_526insC n.492_493insC | |
19 | g.11105282T>A | CA404076317 | LDLR | c.634T>A (p.Phe212Ile) c.376T>A (p.Phe126Ile) c.630T>A c.314-2110T>A (n.314-2110T>A) c.253T>A (p.Phe85Ile) c.314-1283T>A (n.314-1283T>A) n.526T>A n.493T>A | |
19 | g.11105282T>C | CA10584888 | LDLR | c.634T>C (p.Phe212Leu) c.376T>C (p.Phe126Leu) c.630T>C c.314-2110T>C (n.314-2110T>C) c.253T>C (p.Phe85Leu) c.314-1283T>C (n.314-1283T>C) n.526T>C n.493T>C | ClinVar dbSNP |
19 | g.11105282T>G | CA404076318 | LDLR | c.634T>G (p.Phe212Val) c.376T>G (p.Phe126Val) c.630T>G c.314-2110T>G (n.314-2110T>G) c.253T>G (p.Phe85Val) c.314-1283T>G (n.314-1283T>G) n.526T>G n.493T>G | |
19 | g.11105282T= | CA2322767328 | LDLR | c.634T= (p.Phe212=) c.376T= (p.Phe126=) c.630T= c.314-2110T= (n.314-2110T=) c.253T= (p.Phe85=) c.314-1283T= (n.314-1283T=) n.526T= n.493T= | |
19 | g.11105283del | CA2830773963 | LDLR | c.635del (p.Phe212SerfsTer?) c.377del (p.Phe126SerfsTer?) c.631del c.314-2109del (n.314-2109del) c.254del (p.Phe85SerfsTer?) c.314-1282del (n.314-1282del) n.527del n.494del | |
19 | g.11105283T>A | CA10584889 | LDLR | c.635T>A (p.Phe212Tyr) c.377T>A (p.Phe126Tyr) c.631T>A c.314-2109T>A (n.314-2109T>A) c.254T>A (p.Phe85Tyr) c.314-1282T>A (n.314-1282T>A) n.527T>A n.494T>A | ClinVar dbSNP |
19 | g.11105283T>C | CA16602298 | LDLR | c.635T>C (p.Phe212Ser) c.377T>C (p.Phe126Ser) c.631T>C c.314-2109T>C (n.314-2109T>C) c.254T>C (p.Phe85Ser) c.314-1282T>C (n.314-1282T>C) n.527T>C n.494T>C | ClinVar dbSNP |
19 | g.11105283T>G | CA404076319 | LDLR | c.635T>G (p.Phe212Cys) c.377T>G (p.Phe126Cys) c.631T>G c.314-2109T>G (n.314-2109T>G) c.254T>G (p.Phe85Cys) c.314-1282T>G (n.314-1282T>G) n.527T>G n.494T>G | |
19 | g.11105283T= | CA2322767329 | LDLR | c.635T= (p.Phe212=) c.377T= (p.Phe126=) c.631T= c.314-2109T= (n.314-2109T=) c.254T= (p.Phe85=) c.314-1282T= (n.314-1282T=) n.527T= n.494T= | |
19 | g.11105283_11105284delinsTC | CA2322767330 | LDLR | c.635_636delinsTC (p.Phe212=) c.377_378delinsTC (p.Phe126=) c.631_632delinsTC c.314-2109_314-2108delinsTC (n.314-2109_314-2108delinsTC) c.254_255delinsTC (p.Phe85=) c.314-1282_314-1281delinsTC (n.314-1282_314-1281delinsTC) n.527_528delinsTC n.494_495delinsTC | |
19 | g.11105284del | CA645509257 | LDLR | c.636del (p.Phe212LeufsTer?) c.378del (p.Phe126LeufsTer?) c.632del c.314-2108del (n.314-2108del) c.255del (p.Phe85LeufsTer?) c.314-1281del (n.314-1281del) n.528del n.495del | ClinVar dbSNP |
19 | g.11105284C>A | CA404076320 | LDLR | c.636C>A (p.Phe212Leu) c.378C>A (p.Phe126Leu) c.632C>A c.314-2108C>A (n.314-2108C>A) c.255C>A (p.Phe85Leu) c.314-1281C>A (n.314-1281C>A) n.528C>A n.495C>A | ClinVar dbSNP |
19 | g.11105284C= | CA2322767331 | LDLR | c.636C= (p.Phe212=) c.378C= (p.Phe126=) c.632C= c.314-2108C= (n.314-2108C=) c.255C= (p.Phe85=) c.314-1281C= (n.314-1281C=) n.528C= n.495C= | |
19 | g.11105284C>G | CA404076321 | LDLR | c.636C>G (p.Phe212Leu) c.378C>G (p.Phe126Leu) c.632C>G c.314-2108C>G (n.314-2108C>G) c.255C>G (p.Phe85Leu) c.314-1281C>G (n.314-1281C>G) n.528C>G n.495C>G | |
19 | g.11105284C>T | CA043331 | LDLR | c.636C>T (p.Phe212=) c.378C>T (p.Phe126=) c.632C>T c.314-2108C>T (n.314-2108C>T) c.255C>T (p.Phe85=) c.314-1281C>T (n.314-1281C>T) n.528C>T n.495C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105284_11105285delinsCG | CA2322767332 | LDLR | c.636_637delinsCG (p.Phe212=) c.378_379delinsCG (p.Phe126=) c.632_633delinsCG c.314-2108_314-2107delinsCG (n.314-2108_314-2107delinsCG) c.255_256delinsCG (p.Phe85=) c.314-1281_314-1280delinsCG (n.314-1281_314-1280delinsCG) n.528_529delinsCG n.495_496delinsCG | |
19 | g.11105285del | CA10583774 | LDLR | c.637del (p.Val213SerfsTer?) c.379del (p.Val127SerfsTer?) c.633del c.314-2107del (n.314-2107del) c.256del (p.Val86SerfsTer?) c.314-1280del (n.314-1280del) n.529del n.496del | ClinVar dbSNP |
19 | g.11105285G>A | CA404076322 | LDLR | c.637G>A (p.Val213Ile) c.379G>A (p.Val127Ile) c.633G>A c.314-2107G>A (n.314-2107G>A) c.256G>A (p.Val86Ile) c.314-1280G>A (n.314-1280G>A) n.529G>A n.496G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105285G>C | CA404076323 | LDLR | c.637G>C (p.Val213Leu) c.379G>C (p.Val127Leu) c.633G>C c.314-2107G>C (n.314-2107G>C) c.256G>C (p.Val86Leu) c.314-1280G>C (n.314-1280G>C) n.529G>C n.496G>C | |
19 | g.11105285G>T | CA404076324 | LDLR | c.637G>T (p.Val213Phe) c.379G>T (p.Val127Phe) c.633G>T c.314-2107G>T (n.314-2107G>T) c.256G>T (p.Val86Phe) c.314-1280G>T (n.314-1280G>T) n.529G>T n.496G>T | |
19 | g.11105286T>A | CA10584890 | LDLR | c.638T>A (p.Val213Asp) c.380T>A (p.Val127Asp) c.634T>A c.314-2106T>A (n.314-2106T>A) c.257T>A (p.Val86Asp) c.314-1279T>A (n.314-1279T>A) n.530T>A n.497T>A | ClinVar dbSNP |
19 | g.11105286T>C | CA404076325 | LDLR | c.638T>C (p.Val213Ala) c.380T>C (p.Val127Ala) c.634T>C c.314-2106T>C (n.314-2106T>C) c.257T>C (p.Val86Ala) c.314-1279T>C (n.314-1279T>C) n.530T>C n.497T>C | ClinVar |
19 | g.11105286T>G | CA404076326 | LDLR | c.638T>G (p.Val213Gly) c.380T>G (p.Val127Gly) c.634T>G c.314-2106T>G (n.314-2106T>G) c.257T>G (p.Val86Gly) c.314-1279T>G (n.314-1279T>G) n.530T>G n.497T>G | ClinVar dbSNP |
19 | g.11105286T= | CA2322767333 | LDLR | c.638T= (p.Val213=) c.380T= (p.Val127=) c.634T= c.314-2106T= (n.314-2106T=) c.257T= (p.Val86=) c.314-1279T= (n.314-1279T=) n.530T= n.497T= | |
19 | g.11105287C>A | CA505742192 | LDLR | c.639C>A (p.Val213=) c.381C>A (p.Val127=) c.635C>A c.314-2105C>A (n.314-2105C>A) c.258C>A (p.Val86=) c.314-1278C>A (n.314-1278C>A) n.531C>A n.498C>A | |
19 | g.11105287C>G | CA505742194 | LDLR | c.639C>G (p.Val213=) c.381C>G (p.Val127=) c.635C>G c.314-2105C>G (n.314-2105C>G) c.258C>G (p.Val86=) c.314-1278C>G (n.314-1278C>G) n.531C>G n.498C>G | |
19 | g.11105287C>T | CA505742193 | LDLR | c.639C>T (p.Val213=) c.381C>T (p.Val127=) c.635C>T c.314-2105C>T (n.314-2105C>T) c.258C>T (p.Val86=) c.314-1278C>T (n.314-1278C>T) n.531C>T n.498C>T | ClinVar |
19 | g.11105287_11105291del | CA2830763868 | LDLR | c.639_643del (p.Cys214LeufsTer?) c.381_385del (p.Cys128LeufsTer?) c.635_639del c.314-2105_314-2101del (n.314-2105_314-2101del) c.258_262del (p.Cys87LeufsTer?) c.314-1278_314-1274del (n.314-1278_314-1274del) n.531_535del n.498_502del | |
19 | g.11105287_11105291delinsCTGTG | CA2322767334 | LDLR | c.639_643delinsCTGTG (p.Val213=) c.381_385delinsCTGTG (p.Val127=) c.635_639delinsCTGTG c.314-2105_314-2101delinsCTGTG (n.314-2105_314-2101delinsCTGTG) c.258_262delinsCTGTG (p.Val86=) c.314-1278_314-1274delinsCTGTG (n.314-1278_314-1274delinsCTGTG) n.531_535delinsCTGTG n.498_502delinsCTGTG | |
19 | g.11105288del | CA2580096431 | LDLR | c.640del (p.Cys214ValfsTer?) c.382del (p.Cys128ValfsTer?) c.636del c.314-2104del (n.314-2104del) c.259del (p.Cys87ValfsTer?) c.314-1277del (n.314-1277del) n.532del n.499del | ClinVar |
19 | g.11105288T>A | CA404076327 | LDLR | c.640T>A (p.Cys214Ser) c.382T>A (p.Cys128Ser) c.636T>A c.314-2104T>A (n.314-2104T>A) c.259T>A (p.Cys87Ser) c.314-1277T>A (n.314-1277T>A) n.532T>A n.499T>A | gnomAD v4 |
19 | g.11105288T>C | CA10584891 | LDLR | c.640T>C (p.Cys214Arg) c.382T>C (p.Cys128Arg) c.636T>C c.314-2104T>C (n.314-2104T>C) c.259T>C (p.Cys87Arg) c.314-1277T>C (n.314-1277T>C) n.532T>C n.499T>C | ClinVar dbSNP |
19 | g.11105288T>G | CA404076328 | LDLR | c.640T>G (p.Cys214Gly) c.382T>G (p.Cys128Gly) c.636T>G c.314-2104T>G (n.314-2104T>G) c.259T>G (p.Cys87Gly) c.314-1277T>G (n.314-1277T>G) n.532T>G n.499T>G | ClinVar dbSNP |
19 | g.11105288T= | CA2322767335 | LDLR | c.640T= (p.Cys214=) c.382T= (p.Cys128=) c.636T= c.314-2104T= (n.314-2104T=) c.259T= (p.Cys87=) c.314-1277T= (n.314-1277T=) n.532T= n.499T= | |
19 | g.11105288_11105291del | CA10584892 | LDLR | c.640_643del (p.Cys214ThrfsTer?) c.382_385del (p.Cys128ThrfsTer?) c.636_639del c.314-2104_314-2101del (n.314-2104_314-2101del) c.259_262del (p.Cys87ThrfsTer?) c.314-1277_314-1274del (n.314-1277_314-1274del) n.532_535del n.499_502del | ClinVar dbSNP |
19 | g.11105289G>A | CA16602299 | LDLR | c.641G>A (p.Cys214Tyr) c.383G>A (p.Cys128Tyr) c.637G>A c.314-2103G>A (n.314-2103G>A) c.260G>A (p.Cys87Tyr) c.314-1276G>A (n.314-1276G>A) n.533G>A n.500G>A | ClinVar dbSNP |
19 | g.11105289G>C | CA16609803 | LDLR | c.641G>C (p.Cys214Ser) c.383G>C (p.Cys128Ser) c.637G>C c.314-2103G>C (n.314-2103G>C) c.260G>C (p.Cys87Ser) c.314-1276G>C (n.314-1276G>C) n.533G>C n.500G>C | ClinVar dbSNP |
19 | g.11105289G= | CA2322767336 | LDLR | c.641G= (p.Cys214=) c.383G= (p.Cys128=) c.637G= c.314-2103G= (n.314-2103G=) c.260G= (p.Cys87=) c.314-1276G= (n.314-1276G=) n.533G= n.500G= | |
19 | g.11105289G>T | CA10584893 | LDLR | c.641G>T (p.Cys214Phe) c.383G>T (p.Cys128Phe) c.637G>T c.314-2103G>T (n.314-2103G>T) c.260G>T (p.Cys87Phe) c.314-1276G>T (n.314-1276G>T) n.533G>T n.500G>T | ClinVar dbSNP |
19 | g.11105290T>A | CA404076329 | LDLR | c.642T>A (p.Cys214Ter) c.384T>A (p.Cys128Ter) c.638T>A c.314-2102T>A (n.314-2102T>A) c.261T>A (p.Cys87Ter) c.314-1275T>A (n.314-1275T>A) n.534T>A n.501T>A | |
19 | g.11105290T>C | CA305296771 | LDLR | c.642T>C (p.Cys214=) c.384T>C (p.Cys128=) c.638T>C c.314-2102T>C (n.314-2102T>C) c.261T>C (p.Cys87=) c.314-1275T>C (n.314-1275T>C) n.534T>C n.501T>C | dbSNP |
19 | g.11105290T>G | CA404076330 | LDLR | c.642T>G (p.Cys214Trp) c.384T>G (p.Cys128Trp) c.638T>G c.314-2102T>G (n.314-2102T>G) c.261T>G (p.Cys87Trp) c.314-1275T>G (n.314-1275T>G) n.534T>G n.501T>G | |
19 | g.11105290T= | CA2322767337 | LDLR | c.642T= (p.Cys214=) c.384T= (p.Cys128=) c.638T= c.314-2102T= (n.314-2102T=) c.261T= (p.Cys87=) c.314-1275T= (n.314-1275T=) n.534T= n.501T= | |
19 | g.11105291G>A | CA404076331 | LDLR | c.643G>A (p.Asp215Asn) c.385G>A (p.Asp129Asn) c.639G>A c.314-2101G>A (n.314-2101G>A) c.262G>A (p.Asp88Asn) c.314-1274G>A (n.314-1274G>A) n.535G>A n.502G>A | ClinVar dbSNP |
19 | g.11105291G>C | CA404076332 | LDLR | c.643G>C (p.Asp215His) c.385G>C (p.Asp129His) c.639G>C c.314-2101G>C (n.314-2101G>C) c.262G>C (p.Asp88His) c.314-1274G>C (n.314-1274G>C) n.535G>C n.502G>C | |
19 | g.11105291G= | CA2322767338 | LDLR | c.643G= (p.Asp215=) c.385G= (p.Asp129=) c.639G= c.314-2101G= (n.314-2101G=) c.262G= (p.Asp88=) c.314-1274G= (n.314-1274G=) n.535G= n.502G= | |
19 | g.11105291G>T | CA404076333 | LDLR | c.643G>T (p.Asp215Tyr) c.385G>T (p.Asp129Tyr) c.639G>T c.314-2101G>T (n.314-2101G>T) c.262G>T (p.Asp88Tyr) c.314-1274G>T (n.314-1274G>T) n.535G>T n.502G>T | |
19 | g.11105292A= | CA2322767339 | LDLR | c.644A= (p.Asp215=) c.386A= (p.Asp129=) c.640A= c.314-2100A= (n.314-2100A=) c.263A= (p.Asp88=) c.314-1273A= (n.314-1273A=) n.536A= n.503A= | |
19 | g.11105292A>C | CA404076334 | LDLR | c.644A>C (p.Asp215Ala) c.386A>C (p.Asp129Ala) c.640A>C c.314-2100A>C (n.314-2100A>C) c.263A>C (p.Asp88Ala) c.314-1273A>C (n.314-1273A>C) n.536A>C n.503A>C | ClinVar |
19 | g.11105292A>G | CA10584894 | LDLR | c.644A>G (p.Asp215Gly) c.386A>G (p.Asp129Gly) c.640A>G c.314-2100A>G (n.314-2100A>G) c.263A>G (p.Asp88Gly) c.314-1273A>G (n.314-1273A>G) n.536A>G n.503A>G | ClinVar dbSNP |
19 | g.11105292A>T | CA404076335 | LDLR | c.644A>T (p.Asp215Val) c.386A>T (p.Asp129Val) c.640A>T c.314-2100A>T (n.314-2100A>T) c.263A>T (p.Asp88Val) c.314-1273A>T (n.314-1273A>T) n.536A>T n.503A>T | |
19 | g.11105293C>A | CA404076336 | LDLR | c.645C>A (p.Asp215Glu) c.387C>A (p.Asp129Glu) c.641C>A c.314-2099C>A (n.314-2099C>A) c.264C>A (p.Asp88Glu) c.314-1272C>A (n.314-1272C>A) n.537C>A n.504C>A | |
19 | g.11105293C>G | CA404076337 | LDLR | c.645C>G (p.Asp215Glu) c.387C>G (p.Asp129Glu) c.641C>G c.314-2099C>G (n.314-2099C>G) c.264C>G (p.Asp88Glu) c.314-1272C>G (n.314-1272C>G) n.537C>G n.504C>G | ClinVar |
19 | g.11105293C>T | CA505742195 | LDLR | c.645C>T (p.Asp215=) c.387C>T (p.Asp129=) c.641C>T c.314-2099C>T (n.314-2099C>T) c.264C>T (p.Asp88=) c.314-1272C>T (n.314-1272C>T) n.537C>T n.504C>T | |
19 | g.11105300_11105323del | CA2573050569 | LDLR | c.652_675del (p.Arg218_Asp225del) c.394_417del (p.Arg132_Asp139del) c.648_671del c.314-2092_314-2069del (n.314-2092_314-2069del) c.271_294del (p.Arg91_Asp98del) c.314-1265_314-1242del (n.314-1265_314-1242del) n.544_567del n.511_534del | |
19 | g.11105294T>A | CA10584895 | LDLR | c.646T>A (p.Ser216Thr) c.388T>A (p.Ser130Thr) c.642T>A c.314-2098T>A (n.314-2098T>A) c.265T>A (p.Ser89Thr) c.314-1271T>A (n.314-1271T>A) n.538T>A n.505T>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105294T>C | CA10584896 | LDLR | c.646T>C (p.Ser216Pro) c.388T>C (p.Ser130Pro) c.642T>C c.314-2098T>C (n.314-2098T>C) c.265T>C (p.Ser89Pro) c.314-1271T>C (n.314-1271T>C) n.538T>C n.505T>C | ClinVar dbSNP |
19 | g.11105294T>G | CA404076338 | LDLR | c.646T>G (p.Ser216Ala) c.388T>G (p.Ser130Ala) c.642T>G c.314-2098T>G (n.314-2098T>G) c.265T>G (p.Ser89Ala) c.314-1271T>G (n.314-1271T>G) n.538T>G n.505T>G | |
19 | g.11105294T= | CA2322767340 | LDLR | c.646T= (p.Ser216=) c.388T= (p.Ser130=) c.642T= c.314-2098T= (n.314-2098T=) c.265T= (p.Ser89=) c.314-1271T= (n.314-1271T=) n.538T= n.505T= | |
19 | g.11105295C>A | CA404076340 | LDLR | c.647C>A (p.Ser216Ter) c.389C>A (p.Ser130Ter) c.643C>A c.314-2097C>A (n.314-2097C>A) c.266C>A (p.Ser89Ter) c.314-1270C>A (n.314-1270C>A) n.539C>A n.506C>A | |
19 | g.11105295C= | CA2322767341 | LDLR | c.647C= (p.Ser216=) c.389C= (p.Ser130=) c.643C= c.314-2097C= (n.314-2097C=) c.266C= (p.Ser89=) c.314-1270C= (n.314-1270C=) n.539C= n.506C= | |
19 | g.11105295C>G | CA10584897 | LDLR | c.647C>G (p.Ser216Ter) c.389C>G (p.Ser130Ter) c.643C>G c.314-2097C>G (n.314-2097C>G) c.266C>G (p.Ser89Ter) c.314-1270C>G (n.314-1270C>G) n.539C>G n.506C>G | ClinVar dbSNP |
19 | g.11105295C>T | CA404076339 | LDLR | c.647C>T (p.Ser216Leu) c.389C>T (p.Ser130Leu) c.643C>T c.314-2097C>T (n.314-2097C>T) c.266C>T (p.Ser89Leu) c.314-1270C>T (n.314-1270C>T) n.539C>T n.506C>T | |
19 | g.11105295dup | CA10584898 | LDLR | c.647dup (p.Asp217ArgfsTer?) c.389dup (p.Asp131ArgfsTer?) c.643dup c.314-2097dup (n.314-2097dup) c.266dup (p.Asp90ArgfsTer?) c.314-1270dup (n.314-1270dup) n.539dup n.506dup | ClinVar dbSNP gnomAD v4 |
19 | g.11105296A= | CA2322767342 | LDLR | c.648A= (p.Ser216=) c.390A= (p.Ser130=) c.644A= c.314-2096A= (n.314-2096A=) c.267A= (p.Ser89=) c.314-1269A= (n.314-1269A=) n.540A= n.507A= | |
19 | g.11105296A>C | CA505742197 | LDLR | c.648A>C (p.Ser216=) c.390A>C (p.Ser130=) c.644A>C c.314-2096A>C (n.314-2096A>C) c.267A>C (p.Ser89=) c.314-1269A>C (n.314-1269A>C) n.540A>C n.507A>C | |
19 | g.11105296A>G | CA043347 | LDLR | c.648A>G (p.Ser216=) c.390A>G (p.Ser130=) c.644A>G c.314-2096A>G (n.314-2096A>G) c.267A>G (p.Ser89=) c.314-1269A>G (n.314-1269A>G) n.540A>G n.507A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105296A>T | CA505742196 | LDLR | c.648A>T (p.Ser216=) c.390A>T (p.Ser130=) c.644A>T c.314-2096A>T (n.314-2096A>T) c.267A>T (p.Ser89=) c.314-1269A>T (n.314-1269A>T) n.540A>T n.507A>T | |
19 | g.11105297G>A | CA404076341 | LDLR | c.649G>A (p.Asp217Asn) c.391G>A (p.Asp131Asn) c.645G>A c.314-2095G>A (n.314-2095G>A) c.268G>A (p.Asp90Asn) c.314-1268G>A (n.314-1268G>A) n.541G>A n.508G>A | dbSNP |
19 | g.11105297G>C | CA10584899 | LDLR | c.649G>C (p.Asp217His) c.391G>C (p.Asp131His) c.645G>C c.314-2095G>C (n.314-2095G>C) c.268G>C (p.Asp90His) c.314-1268G>C (n.314-1268G>C) n.541G>C n.508G>C | ClinVar dbSNP COSMIC |
19 | g.11105297G= | CA2322767343 | LDLR | c.649G= (p.Asp217=) c.391G= (p.Asp131=) c.645G= c.314-2095G= (n.314-2095G=) c.268G= (p.Asp90=) c.314-1268G= (n.314-1268G=) n.541G= n.508G= | |
19 | g.11105297G>T | CA404076342 | LDLR | c.649G>T (p.Asp217Tyr) c.391G>T (p.Asp131Tyr) c.645G>T c.314-2095G>T (n.314-2095G>T) c.268G>T (p.Asp90Tyr) c.314-1268G>T (n.314-1268G>T) n.541G>T n.508G>T | |
19 | g.11105298A= | CA2322767344 | LDLR | c.650A= (p.Asp217=) c.392A= (p.Asp131=) c.646A= c.314-2094A= (n.314-2094A=) c.269A= (p.Asp90=) c.314-1267A= (n.314-1267A=) n.542A= n.509A= | |
19 | g.11105298A>C | CA404076343 | LDLR | c.650A>C (p.Asp217Ala) c.392A>C (p.Asp131Ala) c.646A>C c.314-2094A>C (n.314-2094A>C) c.269A>C (p.Asp90Ala) c.314-1267A>C (n.314-1267A>C) n.542A>C n.509A>C | |
19 | g.11105298A>G | CA023701 | LDLR | c.650A>G (p.Asp217Gly) c.392A>G (p.Asp131Gly) c.646A>G c.314-2094A>G (n.314-2094A>G) c.269A>G (p.Asp90Gly) c.314-1267A>G (n.314-1267A>G) n.542A>G n.509A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105298A>T | CA404076344 | LDLR | c.650A>T (p.Asp217Val) c.392A>T (p.Asp131Val) c.646A>T c.314-2094A>T (n.314-2094A>T) c.269A>T (p.Asp90Val) c.314-1267A>T (n.314-1267A>T) n.542A>T n.509A>T |