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.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.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.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.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.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.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.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.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 | |
19 | g.11105299C>A | CA043380 | LDLR | c.651C>A (p.Asp217Glu) c.393C>A (p.Asp131Glu) c.647C>A c.314-2093C>A (n.314-2093C>A) c.270C>A (p.Asp90Glu) c.314-1266C>A (n.314-1266C>A) n.543C>A n.510C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105299C= | CA2322767345 | LDLR | c.651C= (p.Asp217=) c.393C= (p.Asp131=) c.647C= c.314-2093C= (n.314-2093C=) c.270C= (p.Asp90=) c.314-1266C= (n.314-1266C=) n.543C= n.510C= | |
19 | g.11105299C>G | CA404076345 | LDLR | c.651C>G (p.Asp217Glu) c.393C>G (p.Asp131Glu) c.647C>G c.314-2093C>G (n.314-2093C>G) c.270C>G (p.Asp90Glu) c.314-1266C>G (n.314-1266C>G) n.543C>G n.510C>G | gnomAD v4 |
19 | g.11105299C>T | CA505742198 | LDLR | c.651C>T (p.Asp217=) c.393C>T (p.Asp131=) c.647C>T c.314-2093C>T (n.314-2093C>T) c.270C>T (p.Asp90=) c.314-1266C>T (n.314-1266C>T) n.543C>T n.510C>T | gnomAD v4 |
19 | g.11105300del | CA2695223195 | LDLR | c.652del (p.Arg218GlyfsTer?) c.394del (p.Arg132GlyfsTer?) c.648del c.314-2092del (n.314-2092del) c.271del (p.Arg91GlyfsTer?) c.314-1265del (n.314-1265del) n.544del n.511del | |
19 | g.11105300C>A | CA505742199 | LDLR | c.652C>A (p.Arg218=) c.394C>A (p.Arg132=) c.648C>A c.314-2092C>A (n.314-2092C>A) c.271C>A (p.Arg91=) c.314-1265C>A (n.314-1265C>A) n.544C>A n.511C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105300C= | CA2322767346 | LDLR | c.652C= (p.Arg218=) c.394C= (p.Arg132=) c.648C= c.314-2092C= (n.314-2092C=) c.271C= (p.Arg91=) c.314-1265C= (n.314-1265C=) n.544C= n.511C= | |
19 | g.11105300C>G | CA404076346 | LDLR | c.652C>G (p.Arg218Gly) c.394C>G (p.Arg132Gly) c.648C>G c.314-2092C>G (n.314-2092C>G) c.271C>G (p.Arg91Gly) c.314-1265C>G (n.314-1265C>G) n.544C>G n.511C>G | ClinVar dbSNP |
19 | g.11105300C>T | CA043402 | LDLR | c.652C>T (p.Arg218Trp) c.394C>T (p.Arg132Trp) c.648C>T c.314-2092C>T (n.314-2092C>T) c.271C>T (p.Arg91Trp) c.314-1265C>T (n.314-1265C>T) n.544C>T n.511C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105301G>A | CA043409 | LDLR | c.653G>A (p.Arg218Gln) c.395G>A (p.Arg132Gln) c.649G>A c.314-2091G>A (n.314-2091G>A) c.272G>A (p.Arg91Gln) c.314-1264G>A (n.314-1264G>A) n.545G>A n.512G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105301G>C | CA404076347 | LDLR | c.653G>C (p.Arg218Pro) c.395G>C (p.Arg132Pro) c.649G>C c.314-2091G>C (n.314-2091G>C) c.272G>C (p.Arg91Pro) c.314-1264G>C (n.314-1264G>C) n.545G>C n.512G>C | |
19 | g.11105301G= | CA2322767347 | LDLR | c.653G= (p.Arg218=) c.395G= (p.Arg132=) c.649G= c.314-2091G= (n.314-2091G=) c.272G= (p.Arg91=) c.314-1264G= (n.314-1264G=) n.545G= n.512G= | |
19 | g.11105301G>T | CA404076348 | LDLR | c.653G>T (p.Arg218Leu) c.395G>T (p.Arg132Leu) c.649G>T c.314-2091G>T (n.314-2091G>T) c.272G>T (p.Arg91Leu) c.314-1264G>T (n.314-1264G>T) n.545G>T n.512G>T | |
19 | g.11105303dup | CA10584901 | LDLR | c.655dup (p.Asp219GlyfsTer?) c.397dup (p.Asp133GlyfsTer?) c.651dup c.314-2089dup (n.314-2089dup) c.274dup (p.Asp92GlyfsTer?) c.314-1262dup (n.314-1262dup) n.547dup n.514dup | ClinVar dbSNP |
19 | g.11105302G>A | CA505742201 | LDLR | c.654G>A (p.Arg218=) c.396G>A (p.Arg132=) c.650G>A c.314-2090G>A (n.314-2090G>A) c.273G>A (p.Arg91=) c.314-1263G>A (n.314-1263G>A) n.546G>A n.513G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105302G>C | CA505742202 | LDLR | c.654G>C (p.Arg218=) c.396G>C (p.Arg132=) c.650G>C c.314-2090G>C (n.314-2090G>C) c.273G>C (p.Arg91=) c.314-1263G>C (n.314-1263G>C) n.546G>C n.513G>C | |
19 | g.11105302G= | CA2322767348 | LDLR | c.654G= (p.Arg218=) c.396G= (p.Arg132=) c.650G= c.314-2090G= (n.314-2090G=) c.273G= (p.Arg91=) c.314-1263G= (n.314-1263G=) n.546G= n.513G= | |
19 | g.11105302G>T | CA505742203 | LDLR | c.654G>T (p.Arg218=) c.396G>T (p.Arg132=) c.650G>T c.314-2090G>T (n.314-2090G>T) c.273G>T (p.Arg91=) c.314-1263G>T (n.314-1263G>T) n.546G>T n.513G>T | COSMIC |
19 | g.11105303G>A | CA10584900 | LDLR | c.655G>A (p.Asp219Asn) c.397G>A (p.Asp133Asn) c.651G>A c.314-2089G>A (n.314-2089G>A) c.274G>A (p.Asp92Asn) c.314-1262G>A (n.314-1262G>A) n.547G>A n.514G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105303G>C | CA404076349 | LDLR | c.655G>C (p.Asp219His) c.397G>C (p.Asp133His) c.651G>C c.314-2089G>C (n.314-2089G>C) c.274G>C (p.Asp92His) c.314-1262G>C (n.314-1262G>C) n.547G>C n.514G>C | |
19 | g.11105303G= | CA2322767349 | LDLR | c.655G= (p.Asp219=) c.397G= (p.Asp133=) c.651G= c.314-2089G= (n.314-2089G=) c.274G= (p.Asp92=) c.314-1262G= (n.314-1262G=) n.547G= n.514G= | |
19 | g.11105303G>T | CA404076350 | LDLR | c.655G>T (p.Asp219Tyr) c.397G>T (p.Asp133Tyr) c.651G>T c.314-2089G>T (n.314-2089G>T) c.274G>T (p.Asp92Tyr) c.314-1262G>T (n.314-1262G>T) n.547G>T n.514G>T | ClinVar |
19 | g.11105304A= | CA2322767350 | LDLR | c.656A= (p.Asp219=) c.398A= (p.Asp133=) c.652A= c.314-2088A= (n.314-2088A=) c.275A= (p.Asp92=) c.314-1261A= (n.314-1261A=) n.548A= n.515A= | |
19 | g.11105304A>C | CA404076351 | LDLR | c.656A>C (p.Asp219Ala) c.398A>C (p.Asp133Ala) c.652A>C c.314-2088A>C (n.314-2088A>C) c.275A>C (p.Asp92Ala) c.314-1261A>C (n.314-1261A>C) n.548A>C n.515A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105304A>G | CA404076353 | LDLR | c.656A>G (p.Asp219Gly) c.398A>G (p.Asp133Gly) c.652A>G c.314-2088A>G (n.314-2088A>G) c.275A>G (p.Asp92Gly) c.314-1261A>G (n.314-1261A>G) n.548A>G n.515A>G | |
19 | g.11105304A>T | CA404076352 | LDLR | c.656A>T (p.Asp219Val) c.398A>T (p.Asp133Val) c.652A>T c.314-2088A>T (n.314-2088A>T) c.275A>T (p.Asp92Val) c.314-1261A>T (n.314-1261A>T) n.548A>T n.515A>T | |
19 | g.11105305C>A | CA404076354 | LDLR | c.657C>A (p.Asp219Glu) c.399C>A (p.Asp133Glu) c.653C>A c.314-2087C>A (n.314-2087C>A) c.276C>A (p.Asp92Glu) c.314-1260C>A (n.314-1260C>A) n.549C>A n.516C>A | |
19 | g.11105305C= | CA2322767351 | LDLR | c.657C= (p.Asp219=) c.399C= (p.Asp133=) c.653C= c.314-2087C= (n.314-2087C=) c.276C= (p.Asp92=) c.314-1260C= (n.314-1260C=) n.549C= n.516C= | |
19 | g.11105305C>G | CA404076355 | LDLR | c.657C>G (p.Asp219Glu) c.399C>G (p.Asp133Glu) c.653C>G c.314-2087C>G (n.314-2087C>G) c.276C>G (p.Asp92Glu) c.314-1260C>G (n.314-1260C>G) n.549C>G n.516C>G | |
19 | g.11105305C>T | CA505742204 | LDLR | c.657C>T (p.Asp219=) c.399C>T (p.Asp133=) c.653C>T c.314-2087C>T (n.314-2087C>T) c.276C>T (p.Asp92=) c.314-1260C>T (n.314-1260C>T) n.549C>T n.516C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105306T>A | CA404076356 | LDLR | c.658T>A (p.Cys220Ser) c.400T>A (p.Cys134Ser) c.654T>A c.314-2086T>A (n.314-2086T>A) c.277T>A (p.Cys93Ser) c.314-1259T>A (n.314-1259T>A) n.550T>A n.517T>A | ClinVar |
19 | g.11105306T>C | CA10576281 | LDLR | c.658T>C (p.Cys220Arg) c.400T>C (p.Cys134Arg) c.654T>C c.314-2086T>C (n.314-2086T>C) c.277T>C (p.Cys93Arg) c.314-1259T>C (n.314-1259T>C) n.550T>C n.517T>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105306T>G | CA404076357 | LDLR | c.658T>G (p.Cys220Gly) c.400T>G (p.Cys134Gly) c.654T>G c.314-2086T>G (n.314-2086T>G) c.277T>G (p.Cys93Gly) c.314-1259T>G (n.314-1259T>G) n.550T>G n.517T>G | ClinVar dbSNP |
19 | g.11105306T= | CA2322767352 | LDLR | c.658T= (p.Cys220=) c.400T= (p.Cys134=) c.654T= c.314-2086T= (n.314-2086T=) c.277T= (p.Cys93=) c.314-1259T= (n.314-1259T=) n.550T= n.517T= | |
19 | g.11105307G>A | CA10584902 | LDLR | c.659G>A (p.Cys220Tyr) c.401G>A (p.Cys134Tyr) c.655G>A c.314-2085G>A (n.314-2085G>A) c.278G>A (p.Cys93Tyr) c.314-1258G>A (n.314-1258G>A) c.1G>A n.551G>A n.518G>A | ClinVar dbSNP |
19 | g.11105307G>C | CA404076358 | LDLR | c.659G>C (p.Cys220Ser) c.401G>C (p.Cys134Ser) c.655G>C c.314-2085G>C (n.314-2085G>C) c.278G>C (p.Cys93Ser) c.314-1258G>C (n.314-1258G>C) c.1G>C n.551G>C n.518G>C | ClinVar dbSNP |
19 | g.11105307G= | CA2322767353 | LDLR | c.659G= (p.Cys220=) c.401G= (p.Cys134=) c.655G= c.314-2085G= (n.314-2085G=) c.278G= (p.Cys93=) c.314-1258G= (n.314-1258G=) c.1G= n.551G= n.518G= | |
19 | g.11105307G>T | CA10584903 | LDLR | c.659G>T (p.Cys220Phe) c.401G>T (p.Cys134Phe) c.655G>T c.314-2085G>T (n.314-2085G>T) c.278G>T (p.Cys93Phe) c.314-1258G>T (n.314-1258G>T) c.1G>T n.551G>T n.518G>T | ClinVar dbSNP |
19 | g.11105308C>A | CA404076359 | LDLR | c.660C>A (p.Cys220Ter) c.402C>A (p.Cys134Ter) c.656C>A c.314-2084C>A (n.314-2084C>A) c.279C>A (p.Cys93Ter) c.314-1257C>A (n.314-1257C>A) c.2C>A n.552C>A n.519C>A | |
19 | g.11105308C= | CA2322767354 | LDLR | c.660C= (p.Cys220=) c.402C= (p.Cys134=) c.656C= c.314-2084C= (n.314-2084C=) c.279C= (p.Cys93=) c.314-1257C= (n.314-1257C=) c.2C= n.552C= n.519C= | |
19 | g.11105308C>G | CA10584904 | LDLR | c.660C>G (p.Cys220Trp) c.402C>G (p.Cys134Trp) c.656C>G c.314-2084C>G (n.314-2084C>G) c.279C>G (p.Cys93Trp) c.314-1257C>G (n.314-1257C>G) c.2C>G n.552C>G n.519C>G | ClinVar dbSNP |
19 | g.11105308C>T | CA505742205 | LDLR | c.660C>T (p.Cys220=) c.402C>T (p.Cys134=) c.656C>T c.314-2084C>T (n.314-2084C>T) c.279C>T (p.Cys93=) c.314-1257C>T (n.314-1257C>T) c.2C>T n.552C>T n.519C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105309T>A | CA404076361 | LDLR | c.661T>A (p.Leu221Met) c.403T>A (p.Leu135Met) c.657T>A c.314-2083T>A (n.314-2083T>A) c.280T>A (p.Leu94Met) c.314-1256T>A (n.314-1256T>A) c.3T>A n.553T>A n.520T>A | |
19 | g.11105309T>C | CA505742206 | LDLR | c.661T>C (p.Leu221=) c.403T>C (p.Leu135=) c.657T>C c.314-2083T>C (n.314-2083T>C) c.280T>C (p.Leu94=) c.314-1256T>C (n.314-1256T>C) c.3T>C n.553T>C n.520T>C | ClinVar |
19 | g.11105309T>G | CA404076360 | LDLR | c.661T>G (p.Leu221Val) c.403T>G (p.Leu135Val) c.657T>G c.314-2083T>G (n.314-2083T>G) c.280T>G (p.Leu94Val) c.314-1256T>G (n.314-1256T>G) c.3T>G n.553T>G n.520T>G | gnomAD v4 |
19 | g.11105310dup | CA632115394 | LDLR | c.662dup (p.Leu221PhefsTer?) c.404dup (p.Leu135PhefsTer?) c.658dup c.314-2082dup (n.314-2082dup) c.281dup (p.Leu94PhefsTer?) c.314-1255dup (n.314-1255dup) c.4dup n.554dup n.521dup | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105310T>A | CA404076362 | LDLR | c.662T>A (p.Leu221Ter) c.404T>A (p.Leu135Ter) c.658T>A c.314-2082T>A (n.314-2082T>A) c.281T>A (p.Leu94Ter) c.314-1255T>A (n.314-1255T>A) c.4T>A n.554T>A n.521T>A | |
19 | g.11105310T>C | CA404076363 | LDLR | c.662T>C (p.Leu221Ser) c.404T>C (p.Leu135Ser) c.658T>C c.314-2082T>C (n.314-2082T>C) c.281T>C (p.Leu94Ser) c.314-1255T>C (n.314-1255T>C) c.4T>C n.554T>C n.521T>C | |
19 | g.11105310T>G | CA404076364 | LDLR | c.662T>G (p.Leu221Trp) c.404T>G (p.Leu135Trp) c.658T>G c.314-2082T>G (n.314-2082T>G) c.281T>G (p.Leu94Trp) c.314-1255T>G (n.314-1255T>G) c.4T>G n.554T>G n.521T>G | dbSNP |
19 | g.11105310T= | CA2322767355 | LDLR | c.662T= (p.Leu221=) c.404T= (p.Leu135=) c.658T= c.314-2082T= (n.314-2082T=) c.281T= (p.Leu94=) c.314-1255T= (n.314-1255T=) c.4T= n.554T= n.521T= | |
19 | g.11105311G>A | CA505742207 | LDLR | c.663G>A (p.Leu221=) c.405G>A (p.Leu135=) c.659G>A c.314-2081G>A (n.314-2081G>A) c.282G>A (p.Leu94=) c.314-1254G>A (n.314-1254G>A) c.5G>A n.555G>A n.522G>A | |
19 | g.11105311G>C | CA404076365 | LDLR | c.663G>C (p.Leu221Phe) c.405G>C (p.Leu135Phe) c.659G>C c.314-2081G>C (n.314-2081G>C) c.282G>C (p.Leu94Phe) c.314-1254G>C (n.314-1254G>C) c.5G>C n.555G>C n.522G>C | dbSNP |
19 | g.11105311G= | CA2322767356 | LDLR | c.663G= (p.Leu221=) c.405G= (p.Leu135=) c.659G= c.314-2081G= (n.314-2081G=) c.282G= (p.Leu94=) c.314-1254G= (n.314-1254G=) c.5G= n.555G= n.522G= | |
19 | g.11105311G>T | CA404076366 | LDLR | c.663G>T (p.Leu221Phe) c.405G>T (p.Leu135Phe) c.659G>T c.314-2081G>T (n.314-2081G>T) c.282G>T (p.Leu94Phe) c.314-1254G>T (n.314-1254G>T) c.5G>T n.555G>T n.522G>T | |
19 | g.11105313_11105316dup | CA2695238677 | LDLR | c.665_668dup (p.Ser224ArgfsTer?) c.407_410dup (p.Ser138ArgfsTer?) c.661_664dup c.314-2079_314-2076dup (n.314-2079_314-2076dup) c.284_287dup (p.Ser97ArgfsTer?) c.314-1252_314-1249dup (n.314-1252_314-1249dup) c.7_10dup n.557_560dup n.524_527dup | |
19 | g.11105312G>A | CA404076369 | LDLR | c.664G>A (p.Asp222Asn) c.406G>A (p.Asp136Asn) c.660G>A c.314-2080G>A (n.314-2080G>A) c.283G>A (p.Asp95Asn) c.314-1253G>A (n.314-1253G>A) c.6G>A n.556G>A n.523G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105312G>C | CA404076368 | LDLR | c.664G>C (p.Asp222His) c.406G>C (p.Asp136His) c.660G>C c.314-2080G>C (n.314-2080G>C) c.283G>C (p.Asp95His) c.314-1253G>C (n.314-1253G>C) c.6G>C n.556G>C n.523G>C | |
19 | g.11105312G= | CA2322767357 | LDLR | c.664G= (p.Asp222=) c.406G= (p.Asp136=) c.660G= c.314-2080G= (n.314-2080G=) c.283G= (p.Asp95=) c.314-1253G= (n.314-1253G=) c.6G= n.556G= n.523G= | |
19 | g.11105312G>T | CA404076367 | LDLR | c.664G>T (p.Asp222Tyr) c.406G>T (p.Asp136Tyr) c.660G>T c.314-2080G>T (n.314-2080G>T) c.283G>T (p.Asp95Tyr) c.314-1253G>T (n.314-1253G>T) c.6G>T n.556G>T n.523G>T | |
19 | g.11105313A= | CA2322767358 | LDLR | c.665A= (p.Asp222=) c.407A= (p.Asp136=) c.661A= c.314-2079A= (n.314-2079A=) c.284A= (p.Asp95=) c.314-1252A= (n.314-1252A=) c.7A= n.557A= n.524A= | |
19 | g.11105313A>C | CA404076370 | LDLR | c.665A>C (p.Asp222Ala) c.407A>C (p.Asp136Ala) c.661A>C c.314-2079A>C (n.314-2079A>C) c.284A>C (p.Asp95Ala) c.314-1252A>C (n.314-1252A>C) c.7A>C n.557A>C n.524A>C | |
19 | g.11105313A>G | CA404076371 | LDLR | c.665A>G (p.Asp222Gly) c.407A>G (p.Asp136Gly) c.661A>G c.314-2079A>G (n.314-2079A>G) c.284A>G (p.Asp95Gly) c.314-1252A>G (n.314-1252A>G) c.7A>G n.557A>G n.524A>G | |
19 | g.11105313A>T | CA10584905 | LDLR | c.665A>T (p.Asp222Val) c.407A>T (p.Asp136Val) c.661A>T c.314-2079A>T (n.314-2079A>T) c.284A>T (p.Asp95Val) c.314-1252A>T (n.314-1252A>T) c.7A>T n.557A>T n.524A>T | ClinVar dbSNP |
19 | g.11105314del | CA2695223196 | LDLR | c.666del (p.Asp222GlufsTer?) c.408del (p.Asp136GlufsTer?) c.662del c.314-2078del (n.314-2078del) c.285del (p.Asp95GlufsTer?) c.314-1251del (n.314-1251del) c.8del n.558del n.525del | |
19 | g.11105314C>A | CA404076372 | LDLR | c.666C>A (p.Asp222Glu) c.408C>A (p.Asp136Glu) c.662C>A c.314-2078C>A (n.314-2078C>A) c.285C>A (p.Asp95Glu) c.314-1251C>A (n.314-1251C>A) c.8C>A n.558C>A n.525C>A | |
19 | g.11105314C= | CA2322767359 | LDLR | c.666C= (p.Asp222=) c.408C= (p.Asp136=) c.662C= c.314-2078C= (n.314-2078C=) c.285C= (p.Asp95=) c.314-1251C= (n.314-1251C=) c.8C= n.558C= n.525C= | |
19 | g.11105314C>G | CA404076373 | LDLR | c.666C>G (p.Asp222Glu) c.408C>G (p.Asp136Glu) c.662C>G c.314-2078C>G (n.314-2078C>G) c.285C>G (p.Asp95Glu) c.314-1251C>G (n.314-1251C>G) c.8C>G n.558C>G n.525C>G | gnomAD v4 |
19 | g.11105314C>T | CA043421 | LDLR | c.666C>T (p.Asp222=) c.408C>T (p.Asp136=) c.662C>T c.314-2078C>T (n.314-2078C>T) c.285C>T (p.Asp95=) c.314-1251C>T (n.314-1251C>T) c.8C>T n.558C>T n.525C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105315G>A | CA023703 | LDLR | c.667G>A (p.Gly223Ser) c.409G>A (p.Gly137Ser) c.663G>A c.314-2077G>A (n.314-2077G>A) c.286G>A (p.Gly96Ser) c.314-1250G>A (n.314-1250G>A) c.9G>A n.559G>A n.526G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105315G>C | CA404076374 | LDLR | c.667G>C (p.Gly223Arg) c.409G>C (p.Gly137Arg) c.663G>C c.314-2077G>C (n.314-2077G>C) c.286G>C (p.Gly96Arg) c.314-1250G>C (n.314-1250G>C) c.9G>C n.559G>C n.526G>C | |
19 | g.11105315G= | CA2322767360 | LDLR | c.667G= (p.Gly223=) c.409G= (p.Gly137=) c.663G= c.314-2077G= (n.314-2077G=) c.286G= (p.Gly96=) c.314-1250G= (n.314-1250G=) c.9G= n.559G= n.526G= | |
19 | g.11105315G>T | CA10584906 | LDLR | c.667G>T (p.Gly223Cys) c.409G>T (p.Gly137Cys) c.663G>T c.314-2077G>T (n.314-2077G>T) c.286G>T (p.Gly96Cys) c.314-1250G>T (n.314-1250G>T) c.9G>T n.559G>T n.526G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105316G>A | CA404076375 | LDLR | c.668G>A (p.Gly223Asp) c.410G>A (p.Gly137Asp) c.664G>A c.314-2076G>A (n.314-2076G>A) c.287G>A (p.Gly96Asp) c.314-1249G>A (n.314-1249G>A) c.10G>A n.560G>A n.527G>A | gnomAD v4 |
19 | g.11105316G>C | CA404076376 | LDLR | c.668G>C (p.Gly223Ala) c.410G>C (p.Gly137Ala) c.664G>C c.314-2076G>C (n.314-2076G>C) c.287G>C (p.Gly96Ala) c.314-1249G>C (n.314-1249G>C) c.10G>C n.560G>C n.527G>C | |
19 | g.11105316G= | CA2322767361 | LDLR | c.668G= (p.Gly223=) c.410G= (p.Gly137=) c.664G= c.314-2076G= (n.314-2076G=) c.287G= (p.Gly96=) c.314-1249G= (n.314-1249G=) c.10G= n.560G= n.527G= | |
19 | g.11105316G>T | CA023705 | LDLR | c.668G>T (p.Gly223Val) c.410G>T (p.Gly137Val) c.664G>T c.314-2076G>T (n.314-2076G>T) c.287G>T (p.Gly96Val) c.314-1249G>T (n.314-1249G>T) c.10G>T n.560G>T n.527G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105317C>A | CA505742209 | LDLR | c.669C>A (p.Gly223=) c.411C>A (p.Gly137=) c.665C>A c.314-2075C>A (n.314-2075C>A) c.288C>A (p.Gly96=) c.314-1248C>A (n.314-1248C>A) c.11C>A n.561C>A n.528C>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105317C= | CA2322767362 | LDLR | c.669C= (p.Gly223=) c.411C= (p.Gly137=) c.665C= c.314-2075C= (n.314-2075C=) c.288C= (p.Gly96=) c.314-1248C= (n.314-1248C=) c.11C= n.561C= n.528C= | |
19 | g.11105317C>G | CA505742210 | LDLR | c.669C>G (p.Gly223=) c.411C>G (p.Gly137=) c.665C>G c.314-2075C>G (n.314-2075C>G) c.288C>G (p.Gly96=) c.314-1248C>G (n.314-1248C>G) c.11C>G n.561C>G n.528C>G | |
19 | g.11105317C>T | CA505742211 | LDLR | c.669C>T (p.Gly223=) c.411C>T (p.Gly137=) c.665C>T c.314-2075C>T (n.314-2075C>T) c.288C>T (p.Gly96=) c.314-1248C>T (n.314-1248C>T) c.11C>T n.561C>T n.528C>T | |
19 | g.11105318T>A | CA404076377 | LDLR | c.670T>A (p.Ser224Thr) c.412T>A (p.Ser138Thr) c.666T>A c.314-2074T>A (n.314-2074T>A) c.289T>A (p.Ser97Thr) c.314-1247T>A (n.314-1247T>A) c.12T>A n.562T>A n.529T>A | |
19 | g.11105318T>C | CA404076378 | LDLR | c.670T>C (p.Ser224Pro) c.412T>C (p.Ser138Pro) c.666T>C c.314-2074T>C (n.314-2074T>C) c.289T>C (p.Ser97Pro) c.314-1247T>C (n.314-1247T>C) c.12T>C n.562T>C n.529T>C | |
19 | g.11105318T>G | CA404076379 | LDLR | c.670T>G (p.Ser224Ala) c.412T>G (p.Ser138Ala) c.666T>G c.314-2074T>G (n.314-2074T>G) c.289T>G (p.Ser97Ala) c.314-1247T>G (n.314-1247T>G) c.12T>G n.562T>G n.529T>G | gnomAD v4 |
19 | g.11105319C>A | CA404076380 | LDLR | c.671C>A (p.Ser224Ter) c.413C>A (p.Ser138Ter) c.667C>A c.314-2073C>A (n.314-2073C>A) c.290C>A (p.Ser97Ter) c.314-1246C>A (n.314-1246C>A) c.13C>A n.563C>A n.530C>A | ClinVar dbSNP |
19 | g.11105319C= | CA2322767363 | LDLR | c.671C= (p.Ser224=) c.413C= (p.Ser138=) c.667C= c.314-2073C= (n.314-2073C=) c.290C= (p.Ser97=) c.314-1246C= (n.314-1246C=) c.13C= n.563C= n.530C= | |
19 | g.11105319C>G | CA043464 | LDLR | c.671C>G (p.Ser224Ter) c.413C>G (p.Ser138Ter) c.667C>G c.314-2073C>G (n.314-2073C>G) c.290C>G (p.Ser97Ter) c.314-1246C>G (n.314-1246C>G) c.13C>G n.563C>G n.530C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105319C>T | CA404076381 | LDLR | c.671C>T (p.Ser224Leu) c.413C>T (p.Ser138Leu) c.667C>T c.314-2073C>T (n.314-2073C>T) c.290C>T (p.Ser97Leu) c.314-1246C>T (n.314-1246C>T) c.13C>T n.563C>T n.530C>T | ClinVar gnomAD v4 |
19 | g.11105320_11105323del | CA2582473459 | LDLR | c.672_675del (p.Asp225ArgfsTer?) c.414_417del (p.Asp139ArgfsTer?) c.668_671del c.314-2072_314-2069del (n.314-2072_314-2069del) c.291_294del (p.Asp98ArgfsTer?) c.314-1245_314-1242del (n.314-1245_314-1242del) c.14_17del n.564_567del n.531_534del | gnomAD v4 |
19 | g.11105320A>C | CA505742212 | LDLR | c.672A>C (p.Ser224=) c.414A>C (p.Ser138=) c.668A>C c.314-2072A>C (n.314-2072A>C) c.291A>C (p.Ser97=) c.314-1245A>C (n.314-1245A>C) c.14A>C n.564A>C n.531A>C | |
19 | g.11105320A>G | CA505742213 | LDLR | c.672A>G (p.Ser224=) c.414A>G (p.Ser138=) c.668A>G c.314-2072A>G (n.314-2072A>G) c.291A>G (p.Ser97=) c.314-1245A>G (n.314-1245A>G) c.14A>G n.564A>G n.531A>G | |
19 | g.11105320A>T | CA505742214 | LDLR | c.672A>T (p.Ser224=) c.414A>T (p.Ser138=) c.668A>T c.314-2072A>T (n.314-2072A>T) c.291A>T (p.Ser97=) c.314-1245A>T (n.314-1245A>T) c.14A>T n.564A>T n.531A>T | |
19 | g.11105321_11105322del | CA2580096435 | LDLR | c.673_674del (p.Asp225ArgfsTer?) c.415_416del (p.Asp139ArgfsTer?) c.669_670del c.314-2071_314-2070del (n.314-2071_314-2070del) c.292_293del (p.Asp98ArgfsTer?) c.314-1244_314-1243del (n.314-1244_314-1243del) c.15_16del n.565_566del n.532_533del | ClinVar |
19 | g.11105321G>A | CA10584907 | LDLR | c.673G>A (p.Asp225Asn) c.415G>A (p.Asp139Asn) c.669G>A c.314-2071G>A (n.314-2071G>A) c.292G>A (p.Asp98Asn) c.314-1244G>A (n.314-1244G>A) c.15G>A n.565G>A n.532G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105321G>C | CA10584908 | LDLR | c.673G>C (p.Asp225His) c.415G>C (p.Asp139His) c.669G>C c.314-2071G>C (n.314-2071G>C) c.292G>C (p.Asp98His) c.314-1244G>C (n.314-1244G>C) c.15G>C n.565G>C n.532G>C | ClinVar dbSNP COSMIC |
19 | g.11105321G= | CA2322767364 | LDLR | c.673G= (p.Asp225=) c.415G= (p.Asp139=) c.669G= c.314-2071G= (n.314-2071G=) c.292G= (p.Asp98=) c.314-1244G= (n.314-1244G=) c.15G= n.565G= n.532G= | |
19 | g.11105321G>T | CA404076382 | LDLR | c.673G>T (p.Asp225Tyr) c.415G>T (p.Asp139Tyr) c.669G>T c.314-2071G>T (n.314-2071G>T) c.292G>T (p.Asp98Tyr) c.314-1244G>T (n.314-1244G>T) c.15G>T n.565G>T n.532G>T | |
19 | g.11105322A= | CA2322767365 | LDLR | c.674A= (p.Asp225=) c.416A= (p.Asp139=) c.670A= c.314-2070A= (n.314-2070A=) c.293A= (p.Asp98=) c.314-1243A= (n.314-1243A=) c.16A= n.566A= n.533A= | |
19 | g.11105322A>C | CA404076383 | LDLR | c.674A>C (p.Asp225Ala) c.416A>C (p.Asp139Ala) c.670A>C c.314-2070A>C (n.314-2070A>C) c.293A>C (p.Asp98Ala) c.314-1243A>C (n.314-1243A>C) c.16A>C n.566A>C n.533A>C | |
19 | g.11105322A>G | CA10584909 | LDLR | c.674A>G (p.Asp225Gly) c.416A>G (p.Asp139Gly) c.670A>G c.314-2070A>G (n.314-2070A>G) c.293A>G (p.Asp98Gly) c.314-1243A>G (n.314-1243A>G) c.16A>G n.566A>G n.533A>G | ClinVar dbSNP |
19 | g.11105322A>T | CA10584910 | LDLR | c.674A>T (p.Asp225Val) c.416A>T (p.Asp139Val) c.670A>T c.314-2070A>T (n.314-2070A>T) c.293A>T (p.Asp98Val) c.314-1243A>T (n.314-1243A>T) c.16A>T n.566A>T n.533A>T | ClinVar dbSNP |
19 | g.11105323C>A | CA404076384 | LDLR | c.675C>A (p.Asp225Glu) c.417C>A (p.Asp139Glu) c.671C>A c.314-2069C>A (n.314-2069C>A) c.294C>A (p.Asp98Glu) c.314-1242C>A (n.314-1242C>A) c.17C>A n.567C>A n.534C>A | ClinVar dbSNP |
19 | g.11105323C= | CA2322767366 | LDLR | c.675C= (p.Asp225=) c.417C= (p.Asp139=) c.671C= c.314-2069C= (n.314-2069C=) c.294C= (p.Asp98=) c.314-1242C= (n.314-1242C=) c.17C= n.567C= n.534C= | |
19 | g.11105323C>G | CA10576282 | LDLR | c.675C>G (p.Asp225Glu) c.417C>G (p.Asp139Glu) c.671C>G c.314-2069C>G (n.314-2069C>G) c.294C>G (p.Asp98Glu) c.314-1242C>G (n.314-1242C>G) c.17C>G n.567C>G n.534C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105323C>T | CA043478 | LDLR | c.675C>T (p.Asp225=) c.417C>T (p.Asp139=) c.671C>T c.314-2069C>T (n.314-2069C>T) c.294C>T (p.Asp98=) c.314-1242C>T (n.314-1242C>T) c.17C>T n.567C>T n.534C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105323dup | CA2830763872 | LDLR | c.675dup (p.Glu226ArgfsTer?) c.417dup (p.Glu140ArgfsTer?) c.671dup c.314-2069dup (n.314-2069dup) c.294dup (p.Glu99ArgfsTer?) c.314-1242dup (n.314-1242dup) c.17dup n.567dup n.534dup | |
19 | g.11105324G>A | CA10584911 | LDLR | c.676G>A (p.Glu226Lys) c.418G>A (p.Glu140Lys) c.672G>A c.314-2068G>A (n.314-2068G>A) c.295G>A (p.Glu99Lys) c.314-1241G>A (n.314-1241G>A) c.18G>A n.568G>A n.535G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105324G>C | CA404076385 | LDLR | c.676G>C (p.Glu226Gln) c.418G>C (p.Glu140Gln) c.672G>C c.314-2068G>C (n.314-2068G>C) c.295G>C (p.Glu99Gln) c.314-1241G>C (n.314-1241G>C) c.18G>C n.568G>C n.535G>C | |
19 | g.11105324G= | CA2322767367 | LDLR | c.676G= (p.Glu226=) c.418G= (p.Glu140=) c.672G= c.314-2068G= (n.314-2068G=) c.295G= (p.Glu99=) c.314-1241G= (n.314-1241G=) c.18G= n.568G= n.535G= | |
19 | g.11105324G>T | CA043486 | LDLR | c.676G>T (p.Glu226Ter) c.418G>T (p.Glu140Ter) c.672G>T c.314-2068G>T (n.314-2068G>T) c.295G>T (p.Glu99Ter) c.314-1241G>T (n.314-1241G>T) c.18G>T n.568G>T n.535G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105325A= | CA2322767368 | LDLR | c.677A= (p.Glu226=) c.419A= (p.Glu140=) c.673A= c.314-2067A= (n.314-2067A=) c.296A= (p.Glu99=) c.314-1240A= (n.314-1240A=) c.19A= n.569A= n.536A= | |
19 | g.11105325A>C | CA404076386 | LDLR | c.677A>C (p.Glu226Ala) c.419A>C (p.Glu140Ala) c.673A>C c.314-2067A>C (n.314-2067A>C) c.296A>C (p.Glu99Ala) c.314-1240A>C (n.314-1240A>C) c.19A>C n.569A>C n.536A>C | |
19 | g.11105325A>G | CA10584912 | LDLR | c.677A>G (p.Glu226Gly) c.419A>G (p.Glu140Gly) c.673A>G c.314-2067A>G (n.314-2067A>G) c.296A>G (p.Glu99Gly) c.314-1240A>G (n.314-1240A>G) c.19A>G n.569A>G n.536A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105325A>T | CA404076387 | LDLR | c.677A>T (p.Glu226Val) c.419A>T (p.Glu140Val) c.673A>T c.314-2067A>T (n.314-2067A>T) c.296A>T (p.Glu99Val) c.314-1240A>T (n.314-1240A>T) c.19A>T n.569A>T n.536A>T | |
19 | g.11105326G>A | CA505742216 | LDLR | c.678G>A (p.Glu226=) c.420G>A (p.Glu140=) c.674G>A c.314-2066G>A (n.314-2066G>A) c.297G>A (p.Glu99=) c.314-1239G>A (n.314-1239G>A) c.20G>A n.570G>A n.537G>A | gnomAD v4 |
19 | g.11105326G>C | CA10584913 | LDLR | c.678G>C (p.Glu226Asp) c.420G>C (p.Glu140Asp) c.674G>C c.314-2066G>C (n.314-2066G>C) c.297G>C (p.Glu99Asp) c.314-1239G>C (n.314-1239G>C) c.20G>C n.570G>C n.537G>C | ClinVar dbSNP |
19 | g.11105326G= | CA2322767369 | LDLR | c.678G= (p.Glu226=) c.420G= (p.Glu140=) c.674G= c.314-2066G= (n.314-2066G=) c.297G= (p.Glu99=) c.314-1239G= (n.314-1239G=) c.20G= n.570G= n.537G= | |
19 | g.11105326G>T | CA10584914 | LDLR | c.678G>T (p.Glu226Asp) c.420G>T (p.Glu140Asp) c.674G>T c.314-2066G>T (n.314-2066G>T) c.297G>T (p.Glu99Asp) c.314-1239G>T (n.314-1239G>T) c.20G>T n.570G>T n.537G>T | ClinVar dbSNP |
19 | g.11105326_11105333delinsGGCCTCCT | CA2322767370 | LDLR | c.678_685delinsGGCCTCCT (p.Glu226=) c.420_427delinsGGCCTCCT (p.Glu140=) c.674_681delinsGGCCTCCT c.314-2066_314-2059delinsGGCCTCCT (n.314-2066_314-2059delinsGGCCTCCT) c.297_304delinsGGCCTCCT (p.Glu99=) c.314-1239_314-1232delinsGGCCTCCT (n.314-1239_314-1232delinsGGCCTCCT) c.20_27delinsGGCCTCCT n.570_577delinsGGCCTCCT n.537_544delinsGGCCTCCT | |
19 | g.11105327G>A | CA404076391 | LDLR | c.679G>A (p.Ala227Thr) c.421G>A (p.Ala141Thr) c.675G>A c.314-2065G>A (n.314-2065G>A) c.298G>A (p.Ala100Thr) c.314-1238G>A (n.314-1238G>A) c.21G>A n.571G>A n.538G>A | ClinVar dbSNP |
19 | g.11105327G>C | CA404076393 | LDLR | c.679G>C (p.Ala227Pro) c.421G>C (p.Ala141Pro) c.675G>C c.314-2065G>C (n.314-2065G>C) c.298G>C (p.Ala100Pro) c.314-1238G>C (n.314-1238G>C) c.21G>C n.571G>C n.538G>C | |
19 | g.11105327G= | CA2322767371 | LDLR | c.679G= (p.Ala227=) c.421G= (p.Ala141=) c.675G= c.314-2065G= (n.314-2065G=) c.298G= (p.Ala100=) c.314-1238G= (n.314-1238G=) c.21G= n.571G= n.538G= | |
19 | g.11105327G>T | CA404076395 | LDLR | c.679G>T (p.Ala227Ser) c.421G>T (p.Ala141Ser) c.675G>T c.314-2065G>T (n.314-2065G>T) c.298G>T (p.Ala100Ser) c.314-1238G>T (n.314-1238G>T) c.21G>T n.571G>T n.538G>T | |
19 | g.11105330_11105336del | CA10584915 | LDLR | c.682_688del (p.Ser228ArgfsTer?) c.424_430del (p.Ser142ArgfsTer?) c.678_684del c.314-2062_314-2056del (n.314-2062_314-2056del) c.301_307del (p.Ser101ArgfsTer?) c.314-1235_314-1229del (n.314-1235_314-1229del) c.24_30del n.574_580del n.541_547del | ClinVar dbSNP |
19 | g.11105328C>A | CA404076398 | LDLR | c.680C>A (p.Ala227Asp) c.422C>A (p.Ala141Asp) c.676C>A c.314-2064C>A (n.314-2064C>A) c.299C>A (p.Ala100Asp) c.314-1237C>A (n.314-1237C>A) c.22C>A n.572C>A n.539C>A | gnomAD v4 |
19 | g.11105328C= | CA2322767372 | LDLR | c.680C= (p.Ala227=) c.422C= (p.Ala141=) c.676C= c.314-2064C= (n.314-2064C=) c.299C= (p.Ala100=) c.314-1237C= (n.314-1237C=) c.22C= n.572C= n.539C= | |
19 | g.11105328C>G | CA404076400 | LDLR | c.680C>G (p.Ala227Gly) c.422C>G (p.Ala141Gly) c.676C>G c.314-2064C>G (n.314-2064C>G) c.299C>G (p.Ala100Gly) c.314-1237C>G (n.314-1237C>G) c.22C>G n.572C>G n.539C>G | |
19 | g.11105328C>T | CA404076402 | LDLR | c.680C>T (p.Ala227Val) c.422C>T (p.Ala141Val) c.676C>T c.314-2064C>T (n.314-2064C>T) c.299C>T (p.Ala100Val) c.314-1237C>T (n.314-1237C>T) c.22C>T n.572C>T n.539C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105329C>A | CA505743048 | LDLR | c.681C>A (p.Ala227=) c.423C>A (p.Ala141=) c.677C>A c.314-2063C>A (n.314-2063C>A) c.300C>A (p.Ala100=) c.314-1236C>A (n.314-1236C>A) c.23C>A n.573C>A n.540C>A | |
19 | g.11105329C>G | CA505743049 | LDLR | c.681C>G (p.Ala227=) c.423C>G (p.Ala141=) c.677C>G c.314-2063C>G (n.314-2063C>G) c.300C>G (p.Ala100=) c.314-1236C>G (n.314-1236C>G) c.23C>G n.573C>G n.540C>G | |
19 | g.11105329C>T | CA505743052 | LDLR | c.681C>T (p.Ala227=) c.423C>T (p.Ala141=) c.677C>T c.314-2063C>T (n.314-2063C>T) c.300C>T (p.Ala100=) c.314-1236C>T (n.314-1236C>T) c.23C>T n.573C>T n.540C>T | ClinVar gnomAD v4 |
19 | g.11105330T>A | CA043499 | LDLR | c.682T>A (p.Ser228Thr) c.424T>A (p.Ser142Thr) c.678T>A c.314-2062T>A (n.314-2062T>A) c.301T>A (p.Ser101Thr) c.314-1235T>A (n.314-1235T>A) c.24T>A n.574T>A n.541T>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105330T>C | CA404076405 | LDLR | c.682T>C (p.Ser228Pro) c.424T>C (p.Ser142Pro) c.678T>C c.314-2062T>C (n.314-2062T>C) c.301T>C (p.Ser101Pro) c.314-1235T>C (n.314-1235T>C) c.24T>C n.574T>C n.541T>C | |
19 | g.11105330T>G | CA043516 | LDLR | c.682T>G (p.Ser228Ala) c.424T>G (p.Ser142Ala) c.678T>G c.314-2062T>G (n.314-2062T>G) c.301T>G (p.Ser101Ala) c.314-1235T>G (n.314-1235T>G) c.24T>G n.574T>G n.541T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105330T= | CA2322767373 | LDLR | c.682T= (p.Ser228=) c.424T= (p.Ser142=) c.678T= c.314-2062T= (n.314-2062T=) c.301T= (p.Ser101=) c.314-1235T= (n.314-1235T=) c.24T= n.574T= n.541T= | |
19 | g.11105331C>A | CA404076408 | LDLR | c.683C>A (p.Ser228Tyr) c.425C>A (p.Ser142Tyr) c.679C>A c.314-2061C>A (n.314-2061C>A) c.302C>A (p.Ser101Tyr) c.314-1234C>A (n.314-1234C>A) c.25C>A n.575C>A n.542C>A | |
19 | g.11105331C>G | CA404076410 | LDLR | c.683C>G (p.Ser228Cys) c.425C>G (p.Ser142Cys) c.679C>G c.314-2061C>G (n.314-2061C>G) c.302C>G (p.Ser101Cys) c.314-1234C>G (n.314-1234C>G) c.25C>G n.575C>G n.542C>G | |
19 | g.11105331C>T | CA404076411 | LDLR | c.683C>T (p.Ser228Phe) c.425C>T (p.Ser142Phe) c.679C>T c.314-2061C>T (n.314-2061C>T) c.302C>T (p.Ser101Phe) c.314-1234C>T (n.314-1234C>T) c.25C>T n.575C>T n.542C>T | ClinVar gnomAD v4 COSMIC |
19 | g.11105332C>A | CA505743057 | LDLR | c.684C>A (p.Ser228=) c.426C>A (p.Ser142=) c.680C>A c.314-2060C>A (n.314-2060C>A) c.303C>A (p.Ser101=) c.314-1233C>A (n.314-1233C>A) c.26C>A n.576C>A n.543C>A | ClinVar dbSNP |
19 | g.11105332C= | CA2322767374 | LDLR | c.684C= (p.Ser228=) c.426C= (p.Ser142=) c.680C= c.314-2060C= (n.314-2060C=) c.303C= (p.Ser101=) c.314-1233C= (n.314-1233C=) c.26C= n.576C= n.543C= | |
19 | g.11105332C>G | CA505743058 | LDLR | c.684C>G (p.Ser228=) c.426C>G (p.Ser142=) c.680C>G c.314-2060C>G (n.314-2060C>G) c.303C>G (p.Ser101=) c.314-1233C>G (n.314-1233C>G) c.26C>G n.576C>G n.543C>G | |
19 | g.11105332C>T | CA505743059 | LDLR | c.684C>T (p.Ser228=) c.426C>T (p.Ser142=) c.680C>T c.314-2060C>T (n.314-2060C>T) c.303C>T (p.Ser101=) c.314-1233C>T (n.314-1233C>T) c.26C>T n.576C>T n.543C>T | gnomAD v4 |
19 | g.11105333T>A | CA404076414 | LDLR | c.685T>A (p.Cys229Ser) c.427T>A (p.Cys143Ser) c.681T>A c.314-2059T>A (n.314-2059T>A) c.304T>A (p.Cys102Ser) c.314-1232T>A (n.314-1232T>A) c.27T>A n.577T>A n.544T>A | ClinVar dbSNP |
19 | g.11105333T>C | CA10584916 | LDLR | c.685T>C (p.Cys229Arg) c.427T>C (p.Cys143Arg) c.681T>C c.314-2059T>C (n.314-2059T>C) c.304T>C (p.Cys102Arg) c.314-1232T>C (n.314-1232T>C) c.27T>C n.577T>C n.544T>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105333T>G | CA10576283 | LDLR | c.685T>G (p.Cys229Gly) c.427T>G (p.Cys143Gly) c.681T>G c.314-2059T>G (n.314-2059T>G) c.304T>G (p.Cys102Gly) c.314-1232T>G (n.314-1232T>G) c.27T>G n.577T>G n.544T>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105333T= | CA2322767375 | LDLR | c.685T= (p.Cys229=) c.427T= (p.Cys143=) c.681T= c.314-2059T= (n.314-2059T=) c.304T= (p.Cys102=) c.314-1232T= (n.314-1232T=) c.27T= n.577T= n.544T= | |
19 | g.11105334G>A | CA10584917 | LDLR | c.686G>A (p.Cys229Tyr) c.428G>A (p.Cys143Tyr) c.682G>A c.314-2058G>A (n.314-2058G>A) c.305G>A (p.Cys102Tyr) c.314-1231G>A (n.314-1231G>A) c.28G>A n.578G>A n.545G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105334G>C | CA10654844 | LDLR | c.686G>C (p.Cys229Ser) c.428G>C (p.Cys143Ser) c.682G>C c.314-2058G>C (n.314-2058G>C) c.305G>C (p.Cys102Ser) c.314-1231G>C (n.314-1231G>C) c.28G>C n.578G>C n.545G>C | ClinVar dbSNP |
19 | g.11105334G= | CA2322767376 | LDLR | c.686G= (p.Cys229=) c.428G= (p.Cys143=) c.682G= c.314-2058G= (n.314-2058G=) c.305G= (p.Cys102=) c.314-1231G= (n.314-1231G=) c.28G= n.578G= n.545G= | |
19 | g.11105334G>T | CA404076416 | LDLR | c.686G>T (p.Cys229Phe) c.428G>T (p.Cys143Phe) c.682G>T c.314-2058G>T (n.314-2058G>T) c.305G>T (p.Cys102Phe) c.314-1231G>T (n.314-1231G>T) c.28G>T n.578G>T n.545G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105335C>A | CA043532 | LDLR | c.687C>A (p.Cys229Ter) c.429C>A (p.Cys143Ter) c.683C>A c.314-2057C>A (n.314-2057C>A) c.306C>A (p.Cys102Ter) c.314-1230C>A (n.314-1230C>A) c.29C>A n.579C>A n.546C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105335C= | CA2322767377 | LDLR | c.687C= (p.Cys229=) c.429C= (p.Cys143=) c.683C= c.314-2057C= (n.314-2057C=) c.306C= (p.Cys102=) c.314-1230C= (n.314-1230C=) c.29C= n.579C= n.546C= | |
19 | g.11105335C>G | CA404076419 | LDLR | c.687C>G (p.Cys229Trp) c.429C>G (p.Cys143Trp) c.683C>G c.314-2057C>G (n.314-2057C>G) c.306C>G (p.Cys102Trp) c.314-1230C>G (n.314-1230C>G) c.29C>G n.579C>G n.546C>G | |
19 | g.11105335C>T | CA505743063 | LDLR | c.687C>T (p.Cys229=) c.429C>T (p.Cys143=) c.683C>T c.314-2057C>T (n.314-2057C>T) c.306C>T (p.Cys102=) c.314-1230C>T (n.314-1230C>T) c.29C>T n.579C>T n.546C>T | gnomAD v4 |
19 | g.11105337dup | CA2582473460 | LDLR | c.689dup (p.Val231GlyfsTer?) c.431dup (p.Val145GlyfsTer?) c.685dup c.314-2055dup (n.314-2055dup) c.308dup (p.Val104GlyfsTer?) c.314-1228dup (n.314-1228dup) c.31dup n.581dup n.548dup | gnomAD v4 |
19 | g.11105336C>A | CA404076422 | LDLR | c.688C>A (p.Pro230Thr) c.430C>A (p.Pro144Thr) c.684C>A c.314-2056C>A (n.314-2056C>A) c.307C>A (p.Pro103Thr) c.314-1229C>A (n.314-1229C>A) c.30C>A n.580C>A n.547C>A | |
19 | g.11105336C= | CA2322767378 | LDLR | c.688C= (p.Pro230=) c.430C= (p.Pro144=) c.684C= c.314-2056C= (n.314-2056C=) c.307C= (p.Pro103=) c.314-1229C= (n.314-1229C=) c.30C= n.580C= n.547C= | |
19 | g.11105336C>G | CA404076425 | LDLR | c.688C>G (p.Pro230Ala) c.430C>G (p.Pro144Ala) c.684C>G c.314-2056C>G (n.314-2056C>G) c.307C>G (p.Pro103Ala) c.314-1229C>G (n.314-1229C>G) c.30C>G n.580C>G n.547C>G | |
19 | g.11105336C>T | CA404076427 | LDLR | c.688C>T (p.Pro230Ser) c.430C>T (p.Pro144Ser) c.684C>T c.314-2056C>T (n.314-2056C>T) c.307C>T (p.Pro103Ser) c.314-1229C>T (n.314-1229C>T) c.30C>T n.580C>T n.547C>T | |
19 | g.11105337C>A | CA404076429 | LDLR | c.689C>A (p.Pro230Gln) c.431C>A (p.Pro144Gln) c.685C>A c.314-2055C>A (n.314-2055C>A) c.308C>A (p.Pro103Gln) c.314-1228C>A (n.314-1228C>A) c.31C>A n.581C>A n.548C>A | |
19 | g.11105337C= | CA2322767379 | LDLR | c.689C= (p.Pro230=) c.431C= (p.Pro144=) c.685C= c.314-2055C= (n.314-2055C=) c.308C= (p.Pro103=) c.314-1228C= (n.314-1228C=) c.31C= n.581C= n.548C= | |
19 | g.11105337C>G | CA404076432 | LDLR | c.689C>G (p.Pro230Arg) c.431C>G (p.Pro144Arg) c.685C>G c.314-2055C>G (n.314-2055C>G) c.308C>G (p.Pro103Arg) c.314-1228C>G (n.314-1228C>G) c.31C>G n.581C>G n.548C>G | ClinVar dbSNP |
19 | g.11105337C>T | CA305296798 | LDLR | c.689C>T (p.Pro230Leu) c.431C>T (p.Pro144Leu) c.685C>T c.314-2055C>T (n.314-2055C>T) c.308C>T (p.Pro103Leu) c.314-1228C>T (n.314-1228C>T) c.31C>T n.581C>T n.548C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105337_11105340dup | CA10584918 | LDLR | c.689_692dup (p.Leu232GlyfsTer?) c.431_434dup (p.Leu146GlyfsTer?) c.685_688dup c.314-2055_314-2052dup (n.314-2055_314-2052dup) c.308_311dup (p.Leu105GlyfsTer?) c.314-1228_314-1225dup (n.314-1228_314-1225dup) c.31_34dup n.581_584dup n.548_551dup | ClinVar dbSNP |
19 | g.11105338G>A | CA043545 | LDLR | c.690G>A (p.Pro230=) c.432G>A (p.Pro144=) c.686G>A c.314-2054G>A (n.314-2054G>A) c.309G>A (p.Pro103=) c.314-1227G>A (n.314-1227G>A) c.32G>A n.582G>A n.549G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105338G>C | CA505743067 | LDLR | c.690G>C (p.Pro230=) c.432G>C (p.Pro144=) c.686G>C c.314-2054G>C (n.314-2054G>C) c.309G>C (p.Pro103=) c.314-1227G>C (n.314-1227G>C) c.32G>C n.582G>C n.549G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105338G= | CA2322767380 | LDLR | c.690G= (p.Pro230=) c.432G= (p.Pro144=) c.686G= c.314-2054G= (n.314-2054G=) c.309G= (p.Pro103=) c.314-1227G= (n.314-1227G=) c.32G= n.582G= n.549G= | |
19 | g.11105338G>T | CA505743064 | LDLR | c.690G>T (p.Pro230=) c.432G>T (p.Pro144=) c.686G>T c.314-2054G>T (n.314-2054G>T) c.309G>T (p.Pro103=) c.314-1227G>T (n.314-1227G>T) c.32G>T n.582G>T n.549G>T | ClinVar gnomAD v4 |
19 | g.11105339dup | CA1139666291 | LDLR | c.691dup (p.Val231GlyfsTer?) c.433dup (p.Val145GlyfsTer?) c.687dup c.314-2053dup (n.314-2053dup) c.310dup (p.Val104GlyfsTer?) c.314-1226dup (n.314-1226dup) c.33dup n.583dup n.550dup | ClinVar dbSNP |
19 | g.11105338_11105339insA | CA2497030116 | LDLR | c.690_691insA (p.Val231SerfsTer?) c.432_433insA (p.Val145SerfsTer?) c.686_687insA c.314-2054_314-2053insA (n.314-2054_314-2053insA) c.309_310insA (p.Val104SerfsTer?) c.314-1227_314-1226insA (n.314-1227_314-1226insA) c.32_33insA n.582_583insA n.549_550insA | |
19 | g.11105339G>A | CA404076435 | LDLR | c.691G>A (p.Val231Met) c.433G>A (p.Val145Met) c.687G>A c.314-2053G>A (n.314-2053G>A) c.310G>A (p.Val104Met) c.314-1226G>A (n.314-1226G>A) c.33G>A n.583G>A n.550G>A | |
19 | g.11105339G>C | CA404076437 | LDLR | c.691G>C (p.Val231Leu) c.433G>C (p.Val145Leu) c.687G>C c.314-2053G>C (n.314-2053G>C) c.310G>C (p.Val104Leu) c.314-1226G>C (n.314-1226G>C) c.33G>C n.583G>C n.550G>C | |
19 | g.11105339G>T | CA404076439 | LDLR | c.691G>T (p.Val231Leu) c.433G>T (p.Val145Leu) c.687G>T c.314-2053G>T (n.314-2053G>T) c.310G>T (p.Val104Leu) c.314-1226G>T (n.314-1226G>T) c.33G>T n.583G>T n.550G>T | |
19 | g.11105340T>A | CA404076441 | LDLR | c.692T>A (p.Val231Glu) c.434T>A (p.Val145Glu) c.688T>A c.314-2052T>A (n.314-2052T>A) c.311T>A (p.Val104Glu) c.314-1225T>A (n.314-1225T>A) c.34T>A n.584T>A n.551T>A | |
19 | g.11105340T>C | CA043591 | LDLR | c.692T>C (p.Val231Ala) c.434T>C (p.Val145Ala) c.688T>C c.314-2052T>C (n.314-2052T>C) c.311T>C (p.Val104Ala) c.314-1225T>C (n.314-1225T>C) c.34T>C n.584T>C n.551T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105340T>G | CA404076444 | LDLR | c.692T>G (p.Val231Gly) c.434T>G (p.Val145Gly) c.688T>G c.314-2052T>G (n.314-2052T>G) c.311T>G (p.Val104Gly) c.314-1225T>G (n.314-1225T>G) c.34T>G n.584T>G n.551T>G | |
19 | g.11105340T= | CA2322767381 | LDLR | c.692T= (p.Val231=) c.434T= (p.Val145=) c.688T= c.314-2052T= (n.314-2052T=) c.311T= (p.Val104=) c.314-1225T= (n.314-1225T=) c.34T= n.584T= n.551T= | |
19 | g.11105341_11105363del | CA2582473461 | LDLR | c.693_715del (p.Leu232ProfsTer26) c.435_457del (p.Leu146ProfsTer26) c.689_711del c.314-2051_314-2029del (n.314-2051_314-2029del) c.312_334del (p.Leu105ProfsTer26) c.314-1224_314-1202del (n.314-1224_314-1202del) c.35_57del n.585_607del n.552_574del | gnomAD v4 |
19 | g.11105341G>A | CA505743071 | LDLR | c.693G>A (p.Val231=) c.435G>A (p.Val145=) c.689G>A c.314-2051G>A (n.314-2051G>A) c.312G>A (p.Val104=) c.314-1224G>A (n.314-1224G>A) c.35G>A n.585G>A n.552G>A | |
19 | g.11105341G>C | CA505743072 | LDLR | c.693G>C (p.Val231=) c.435G>C (p.Val145=) c.689G>C c.314-2051G>C (n.314-2051G>C) c.312G>C (p.Val104=) c.314-1224G>C (n.314-1224G>C) c.35G>C n.585G>C n.552G>C | gnomAD v4 |
19 | g.11105341G>T | CA505743073 | LDLR | c.693G>T (p.Val231=) c.435G>T (p.Val145=) c.689G>T c.314-2051G>T (n.314-2051G>T) c.312G>T (p.Val104=) c.314-1224G>T (n.314-1224G>T) c.35G>T n.585G>T n.552G>T | |
19 | g.11105342C>A | CA404076446 | LDLR | c.694C>A (p.Leu232Ile) c.436C>A (p.Leu146Ile) c.690C>A c.314-2050C>A (n.314-2050C>A) c.313C>A (p.Leu105Ile) c.314-1223C>A (n.314-1223C>A) c.36C>A n.586C>A n.553C>A | |
19 | g.11105342C= | CA2322767382 | LDLR | c.694C= (p.Leu232=) c.436C= (p.Leu146=) c.690C= c.314-2050C= (n.314-2050C=) c.313C= (p.Leu105=) c.314-1223C= (n.314-1223C=) c.36C= n.586C= n.553C= | |
19 | g.11105342C>G | CA404076450 | LDLR | c.694C>G (p.Leu232Val) c.436C>G (p.Leu146Val) c.690C>G c.314-2050C>G (n.314-2050C>G) c.313C>G (p.Leu105Val) c.314-1223C>G (n.314-1223C>G) c.36C>G n.586C>G n.553C>G | |
19 | g.11105342C>T | CA404076448 | LDLR | c.694C>T (p.Leu232Phe) c.436C>T (p.Leu146Phe) c.690C>T c.314-2050C>T (n.314-2050C>T) c.313C>T (p.Leu105Phe) c.314-1223C>T (n.314-1223C>T) c.36C>T n.586C>T n.553C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105343T>A | CA404076452 | LDLR | c.695T>A (p.Leu232His) c.437T>A (p.Leu146His) c.691T>A c.314-2049T>A (n.314-2049T>A) c.314T>A (p.Leu105His) c.314-1222T>A (n.314-1222T>A) c.37T>A n.587T>A n.554T>A | |
19 | g.11105343T>C | CA404076453 | LDLR | c.695T>C (p.Leu232Pro) c.437T>C (p.Leu146Pro) c.691T>C c.314-2049T>C (n.314-2049T>C) c.314T>C (p.Leu105Pro) c.314-1222T>C (n.314-1222T>C) c.37T>C n.587T>C n.554T>C | gnomAD v4 |
19 | g.11105343T>G | CA404076455 | LDLR | c.695T>G (p.Leu232Arg) c.437T>G (p.Leu146Arg) c.691T>G c.314-2049T>G (n.314-2049T>G) c.314T>G (p.Leu105Arg) c.314-1222T>G (n.314-1222T>G) c.37T>G n.587T>G n.554T>G | |
19 | g.11105344C>A | CA043600 | LDLR | c.696C>A (p.Leu232=) c.438C>A (p.Leu146=) c.692C>A c.314-2048C>A (n.314-2048C>A) c.315C>A (p.Leu105=) c.314-1221C>A (n.314-1221C>A) c.38C>A n.588C>A n.555C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105344C= | CA2322767383 | LDLR | c.696C= (p.Leu232=) c.438C= (p.Leu146=) c.692C= c.314-2048C= (n.314-2048C=) c.315C= (p.Leu105=) c.314-1221C= (n.314-1221C=) c.38C= n.588C= n.555C= | |
19 | g.11105344C>G | CA505743076 | LDLR | c.696C>G (p.Leu232=) c.438C>G (p.Leu146=) c.692C>G c.314-2048C>G (n.314-2048C>G) c.315C>G (p.Leu105=) c.314-1221C>G (n.314-1221C>G) c.38C>G n.588C>G n.555C>G | |
19 | g.11105344C>T | CA505743078 | LDLR | c.696C>T (p.Leu232=) c.438C>T (p.Leu146=) c.692C>T c.314-2048C>T (n.314-2048C>T) c.315C>T (p.Leu105=) c.314-1221C>T (n.314-1221C>T) c.38C>T n.588C>T n.555C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105345A= | CA2322767384 | LDLR | c.697A= (p.Thr233=) c.439A= (p.Thr147=) c.693A= c.314-2047A= (n.314-2047A=) c.316A= (p.Thr106=) c.314-1220A= (n.314-1220A=) c.39A= n.589A= n.556A= | |
19 | g.11105345A>C | CA404076457 | LDLR | c.697A>C (p.Thr233Pro) c.439A>C (p.Thr147Pro) c.693A>C c.314-2047A>C (n.314-2047A>C) c.316A>C (p.Thr106Pro) c.314-1220A>C (n.314-1220A>C) c.39A>C n.589A>C n.556A>C | dbSNP |
19 | g.11105345A>G | CA404076458 | LDLR | c.697A>G (p.Thr233Ala) c.439A>G (p.Thr147Ala) c.693A>G c.314-2047A>G (n.314-2047A>G) c.316A>G (p.Thr106Ala) c.314-1220A>G (n.314-1220A>G) c.39A>G n.589A>G n.556A>G | |
19 | g.11105345A>T | CA404076459 | LDLR | c.697A>T (p.Thr233Ser) c.439A>T (p.Thr147Ser) c.693A>T c.314-2047A>T (n.314-2047A>T) c.316A>T (p.Thr106Ser) c.314-1220A>T (n.314-1220A>T) c.39A>T n.589A>T n.556A>T | |
19 | g.11105345_11105357del | CA2695223198 | LDLR | c.697_709del (p.Thr233ProfsTer?) c.439_451del (p.Thr147ProfsTer?) c.693_705del c.314-2047_314-2035del (n.314-2047_314-2035del) c.316_328del (p.Thr106ProfsTer?) c.314-1220_314-1208del (n.314-1220_314-1208del) c.39_51del n.589_601del n.556_568del | |
19 | g.11105346C>A | CA404076462 | LDLR | c.698C>A (p.Thr233Asn) c.440C>A (p.Thr147Asn) c.694C>A c.314-2046C>A (n.314-2046C>A) c.317C>A (p.Thr106Asn) c.314-1219C>A (n.314-1219C>A) c.40C>A n.590C>A n.557C>A | |
19 | g.11105346C= | CA2322767385 | LDLR | c.698C= (p.Thr233=) c.440C= (p.Thr147=) c.694C= c.314-2046C= (n.314-2046C=) c.317C= (p.Thr106=) c.314-1219C= (n.314-1219C=) c.40C= n.590C= n.557C= | |
19 | g.11105346C>G | CA404076463 | LDLR | c.698C>G (p.Thr233Ser) c.440C>G (p.Thr147Ser) c.694C>G c.314-2046C>G (n.314-2046C>G) c.317C>G (p.Thr106Ser) c.314-1219C>G (n.314-1219C>G) c.40C>G n.590C>G n.557C>G | dbSNP |
19 | g.11105346C>T | CA10584919 | LDLR | c.698C>T (p.Thr233Ile) c.440C>T (p.Thr147Ile) c.694C>T c.314-2046C>T (n.314-2046C>T) c.317C>T (p.Thr106Ile) c.314-1219C>T (n.314-1219C>T) c.40C>T n.590C>T n.557C>T | ClinVar dbSNP |
19 | g.11105346_11105352del | CA2582473462 | LDLR | c.698_704del (p.Thr233IlefsTer?) c.440_446del (p.Thr147IlefsTer?) c.694_700del c.314-2046_314-2040del (n.314-2046_314-2040del) c.317_323del (p.Thr106IlefsTer?) c.314-1219_314-1213del (n.314-1219_314-1213del) c.40_46del n.590_596del n.557_563del | gnomAD v4 |
19 | g.11105346_11105356dup | CA658653700 | LDLR | c.698_708dup (p.Ala237ProfsTer?) c.440_450dup (p.Ala151ProfsTer?) c.694_704dup c.314-2046_314-2036dup (n.314-2046_314-2036dup) c.317_327dup (p.Ala110ProfsTer?) c.314-1219_314-1209dup (n.314-1219_314-1209dup) c.40_50dup n.590_600dup n.557_567dup | ClinVar dbSNP |
19 | g.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | CA2322767386 | LDLR | c.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=) c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=) c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=) c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | |
19 | g.11105347C>A | CA505743080 | LDLR | c.699C>A (p.Thr233=) c.441C>A (p.Thr147=) c.695C>A c.314-2045C>A (n.314-2045C>A) c.318C>A (p.Thr106=) c.314-1218C>A (n.314-1218C>A) c.41C>A n.591C>A n.558C>A | |
19 | g.11105347C>G | CA505743081 | LDLR | c.699C>G (p.Thr233=) c.441C>G (p.Thr147=) c.695C>G c.314-2045C>G (n.314-2045C>G) c.318C>G (p.Thr106=) c.314-1218C>G (n.314-1218C>G) c.41C>G n.591C>G n.558C>G | |
19 | g.11105347C>T | CA505743082 | LDLR | c.699C>T (p.Thr233=) c.441C>T (p.Thr147=) c.695C>T c.314-2045C>T (n.314-2045C>T) c.318C>T (p.Thr106=) c.314-1218C>T (n.314-1218C>T) c.41C>T n.591C>T n.558C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | CA2322767387 | LDLR | c.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=) c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=) c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=) c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | |
19 | g.11105348_11105410del | CA16602300 | LDLR | c.700_762del (p.Cys234_Asp254del) c.442_504del (p.Cys148_Asp168del) c.696_758del c.314-2044_314-1982del (n.314-2044_314-1982del) c.319_381del (p.Cys107_Asp127del) c.314-1217_314-1155del (n.314-1217_314-1155del) c.42_104del n.592_654del n.559_621del | ClinVar dbSNP |
19 | g.11105348T>A | CA404076472 | LDLR | c.700T>A (p.Cys234Ser) c.442T>A (p.Cys148Ser) c.696T>A c.314-2044T>A (n.314-2044T>A) c.319T>A (p.Cys107Ser) c.314-1217T>A (n.314-1217T>A) c.42T>A n.592T>A n.559T>A | |
19 | g.11105348T>C | CA10584920 | LDLR | c.700T>C (p.Cys234Arg) c.442T>C (p.Cys148Arg) c.696T>C c.314-2044T>C (n.314-2044T>C) c.319T>C (p.Cys107Arg) c.314-1217T>C (n.314-1217T>C) c.42T>C n.592T>C n.559T>C | ClinVar dbSNP |
19 | g.11105348T>G | CA404076467 | LDLR | c.700T>G (p.Cys234Gly) c.442T>G (p.Cys148Gly) c.696T>G c.314-2044T>G (n.314-2044T>G) c.319T>G (p.Cys107Gly) c.314-1217T>G (n.314-1217T>G) c.42T>G n.592T>G n.559T>G | |
19 | g.11105348T= | CA2322767388 | LDLR | c.700T= (p.Cys234=) c.442T= (p.Cys148=) c.696T= c.314-2044T= (n.314-2044T=) c.319T= (p.Cys107=) c.314-1217T= (n.314-1217T=) c.42T= n.592T= n.559T= | |
19 | g.11105348_11105351dup | CA2573050570 | LDLR | c.700_703dup (p.Gly235ValfsTer?) c.442_445dup (p.Gly149ValfsTer?) c.696_699dup c.314-2044_314-2041dup (n.314-2044_314-2041dup) c.319_322dup (p.Gly108ValfsTer?) c.314-1217_314-1214dup (n.314-1217_314-1214dup) c.42_45dup n.592_595dup n.559_562dup | |
19 | g.11105348_11105368delinsA | CA2573050571 | LDLR | c.700_720delinsA (p.Cys234MetfsTer25) c.442_462delinsA (p.Cys148MetfsTer25) c.696_716delinsA c.314-2044_314-2024delinsA (n.314-2044_314-2024delinsA) c.319_339delinsA (p.Cys107MetfsTer25) c.314-1217_314-1197delinsA (n.314-1217_314-1197delinsA) c.42_62delinsA n.592_612delinsA n.559_579delinsA | |
19 | g.11105348_11105410delinsA | CA645373223 | LDLR | c.700_762delinsA (p.Cys234LysfsTer11) c.442_504delinsA (p.Cys148LysfsTer11) c.696_758delinsA c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA) c.319_381delinsA (p.Cys107LysfsTer11) c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA) c.42_104delinsA n.592_654delinsA n.559_621delinsA | ClinVar dbSNP |
19 | g.11105349G>A | CA10584921 | LDLR | c.701G>A (p.Cys234Tyr) c.443G>A (p.Cys148Tyr) c.697G>A c.314-2043G>A (n.314-2043G>A) c.320G>A (p.Cys107Tyr) c.314-1216G>A (n.314-1216G>A) c.43G>A n.593G>A n.560G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105349G>C | CA10584922 | LDLR | c.701G>C (p.Cys234Ser) c.443G>C (p.Cys148Ser) c.697G>C c.314-2043G>C (n.314-2043G>C) c.320G>C (p.Cys107Ser) c.314-1216G>C (n.314-1216G>C) c.43G>C n.593G>C n.560G>C | ClinVar dbSNP |
19 | g.11105349G= | CA2322767389 | LDLR | c.701G= (p.Cys234=) c.443G= (p.Cys148=) c.697G= c.314-2043G= (n.314-2043G=) c.320G= (p.Cys107=) c.314-1216G= (n.314-1216G=) c.43G= n.593G= n.560G= | |
19 | g.11105349G>T | CA404076476 | LDLR | c.701G>T (p.Cys234Phe) c.443G>T (p.Cys148Phe) c.697G>T c.314-2043G>T (n.314-2043G>T) c.320G>T (p.Cys107Phe) c.314-1216G>T (n.314-1216G>T) c.43G>T n.593G>T n.560G>T | |
19 | g.11105350T>A | CA404076478 | LDLR | c.702T>A (p.Cys234Ter) c.444T>A (p.Cys148Ter) c.698T>A c.314-2042T>A (n.314-2042T>A) c.321T>A (p.Cys107Ter) c.314-1215T>A (n.314-1215T>A) c.44T>A n.594T>A n.561T>A | |
19 | g.11105350T>C | CA505743084 | LDLR | c.702T>C (p.Cys234=) c.444T>C (p.Cys148=) c.698T>C c.314-2042T>C (n.314-2042T>C) c.321T>C (p.Cys107=) c.314-1215T>C (n.314-1215T>C) c.44T>C n.594T>C n.561T>C | |
19 | g.11105350T>G | CA10584923 | LDLR | c.702T>G (p.Cys234Trp) c.444T>G (p.Cys148Trp) c.698T>G c.314-2042T>G (n.314-2042T>G) c.321T>G (p.Cys107Trp) c.314-1215T>G (n.314-1215T>G) c.44T>G n.594T>G n.561T>G | ClinVar dbSNP |
19 | g.11105350T= | CA2322767390 | LDLR | c.702T= (p.Cys234=) c.444T= (p.Cys148=) c.698T= c.314-2042T= (n.314-2042T=) c.321T= (p.Cys107=) c.314-1215T= (n.314-1215T=) c.44T= n.594T= n.561T= | |
19 | g.11105351G>A | CA404076480 | LDLR | c.703G>A (p.Gly235Ser) c.445G>A (p.Gly149Ser) c.699G>A c.314-2041G>A (n.314-2041G>A) c.322G>A (p.Gly108Ser) c.314-1214G>A (n.314-1214G>A) c.45G>A n.595G>A n.562G>A | |
19 | g.11105351G>C | CA404076482 | LDLR | c.703G>C (p.Gly235Arg) c.445G>C (p.Gly149Arg) c.699G>C c.314-2041G>C (n.314-2041G>C) c.322G>C (p.Gly108Arg) c.314-1214G>C (n.314-1214G>C) c.45G>C n.595G>C n.562G>C | ClinVar dbSNP |
19 | g.11105351G= | CA2322767391 | LDLR | c.703G= (p.Gly235=) c.445G= (p.Gly149=) c.699G= c.314-2041G= (n.314-2041G=) c.322G= (p.Gly108=) c.314-1214G= (n.314-1214G=) c.45G= n.595G= n.562G= | |
19 | g.11105351G>T | CA10584924 | LDLR | c.703G>T (p.Gly235Cys) c.445G>T (p.Gly149Cys) c.699G>T c.314-2041G>T (n.314-2041G>T) c.322G>T (p.Gly108Cys) c.314-1214G>T (n.314-1214G>T) c.45G>T n.595G>T n.562G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105352_11110660del | CA915941069 | LDLR | c.704_1207del c.446_949del c.446_941-854del c.700_1203del c.314-2040_445del c.323_826del c.314-1213_568del c.46_541-854del n.596_1099del n.563_1066del | |
19 | g.11105352G>A | CA404076484 | LDLR | c.704G>A (p.Gly235Asp) c.446G>A (p.Gly149Asp) c.700G>A c.314-2040G>A (n.314-2040G>A) c.323G>A (p.Gly108Asp) c.314-1213G>A (n.314-1213G>A) c.46G>A n.596G>A n.563G>A | |
19 | g.11105352G>C | CA404076486 | LDLR | c.704G>C (p.Gly235Ala) c.446G>C (p.Gly149Ala) c.700G>C c.314-2040G>C (n.314-2040G>C) c.323G>C (p.Gly108Ala) c.314-1213G>C (n.314-1213G>C) c.46G>C n.596G>C n.563G>C | |
19 | g.11105352G>T | CA404076485 | LDLR | c.704G>T (p.Gly235Val) c.446G>T (p.Gly149Val) c.700G>T c.314-2040G>T (n.314-2040G>T) c.323G>T (p.Gly108Val) c.314-1213G>T (n.314-1213G>T) c.46G>T n.596G>T n.563G>T | |
19 | g.11105353T>A | CA505743090 | LDLR | c.705T>A (p.Gly235=) c.447T>A (p.Gly149=) c.701T>A c.314-2039T>A (n.314-2039T>A) c.324T>A (p.Gly108=) c.314-1212T>A (n.314-1212T>A) c.47T>A n.597T>A n.564T>A | |
19 | g.11105353T>C | CA043616 | LDLR | c.705T>C (p.Gly235=) c.447T>C (p.Gly149=) c.701T>C c.314-2039T>C (n.314-2039T>C) c.324T>C (p.Gly108=) c.314-1212T>C (n.314-1212T>C) c.47T>C n.597T>C n.564T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105353T>G | CA505743091 | LDLR | c.705T>G (p.Gly235=) c.447T>G (p.Gly149=) c.701T>G c.314-2039T>G (n.314-2039T>G) c.324T>G (p.Gly108=) c.314-1212T>G (n.314-1212T>G) c.47T>G n.597T>G n.564T>G | |
19 | g.11105353T= | CA2322767392 | LDLR | c.705T= (p.Gly235=) c.447T= (p.Gly149=) c.701T= c.314-2039T= (n.314-2039T=) c.324T= (p.Gly108=) c.314-1212T= (n.314-1212T=) c.47T= n.597T= n.564T= | |
19 | g.11105354C>A | CA404076488 | LDLR | c.706C>A (p.Pro236Thr) c.448C>A (p.Pro150Thr) c.702C>A c.314-2038C>A (n.314-2038C>A) c.325C>A (p.Pro109Thr) c.314-1211C>A (n.314-1211C>A) c.48C>A n.598C>A n.565C>A | |
19 | g.11105354C>G | CA404076490 | LDLR | c.706C>G (p.Pro236Ala) c.448C>G (p.Pro150Ala) c.702C>G c.314-2038C>G (n.314-2038C>G) c.325C>G (p.Pro109Ala) c.314-1211C>G (n.314-1211C>G) c.48C>G n.598C>G n.565C>G | |
19 | g.11105354C>T | CA404076492 | LDLR | c.706C>T (p.Pro236Ser) c.448C>T (p.Pro150Ser) c.702C>T c.314-2038C>T (n.314-2038C>T) c.325C>T (p.Pro109Ser) c.314-1211C>T (n.314-1211C>T) c.48C>T n.598C>T n.565C>T | COSMIC |
19 | g.11105356dup | CA10584925 | LDLR | c.708dup (p.Ala237ArgfsTer29) c.450dup (p.Ala151ArgfsTer29) c.704dup c.314-2036dup (n.314-2036dup) c.327dup (p.Ala110ArgfsTer29) c.314-1209dup (n.314-1209dup) c.50dup n.600dup n.567dup | ClinVar dbSNP |
19 | g.11105354_11105357delinsCCCG | CA2322767393 | LDLR | c.706_709delinsCCCG (p.Pro236=) c.448_451delinsCCCG (p.Pro150=) c.702_705delinsCCCG c.314-2038_314-2035delinsCCCG (n.314-2038_314-2035delinsCCCG) c.325_328delinsCCCG (p.Pro109=) c.314-1211_314-1208delinsCCCG (n.314-1211_314-1208delinsCCCG) c.48_51delinsCCCG n.598_601delinsCCCG n.565_568delinsCCCG | |
19 | g.11105355C>A | CA404076494 | LDLR | c.707C>A (p.Pro236His) c.449C>A (p.Pro150His) c.703C>A c.314-2037C>A (n.314-2037C>A) c.326C>A (p.Pro109His) c.314-1210C>A (n.314-1210C>A) c.49C>A n.599C>A n.566C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105355C= | CA2322767394 | LDLR | c.707C= (p.Pro236=) c.449C= (p.Pro150=) c.703C= c.314-2037C= (n.314-2037C=) c.326C= (p.Pro109=) c.314-1210C= (n.314-1210C=) c.49C= n.599C= n.566C= | |
19 | g.11105355C>G | CA404076499 | LDLR | c.707C>G (p.Pro236Arg) c.449C>G (p.Pro150Arg) c.703C>G c.314-2037C>G (n.314-2037C>G) c.326C>G (p.Pro109Arg) c.314-1210C>G (n.314-1210C>G) c.49C>G n.599C>G n.566C>G | |
19 | g.11105355C>T | CA404076497 | LDLR | c.707C>T (p.Pro236Leu) c.449C>T (p.Pro150Leu) c.703C>T c.314-2037C>T (n.314-2037C>T) c.326C>T (p.Pro109Leu) c.314-1210C>T (n.314-1210C>T) c.49C>T n.599C>T n.566C>T | |
19 | g.11105357_11105359del | CA10584927 | LDLR | c.709_711del (p.Ala237del) c.451_453del (p.Ala151del) c.705_707del c.314-2035_314-2033del (n.314-2035_314-2033del) c.328_330del (p.Ala110del) c.314-1208_314-1206del (n.314-1208_314-1206del) c.51_53del n.601_603del n.568_570del | ClinVar dbSNP |