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.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.11105554_11105571del | CA2580096468 | LDLR | c.906_923del (p.Asp303_Cys308del) c.648_665del (p.Asp217_Cys222del) c.902_919del c.314-1838_314-1821del (n.314-1838_314-1821del) c.525_542del (p.Asp176_Cys181del) c.314-1011_314-994del (n.314-1011_314-994del) c.248_265del n.798_815del n.765_782del | ClinVar |
19 | g.11105552_11105561delinsTGTGATGGTG | CA2322767572 | LDLR | c.904_913delinsTGTGATGGTG (p.Cys302=) c.646_655delinsTGTGATGGTG (p.Cys216=) c.900_909delinsTGTGATGGTG c.314-1840_314-1831delinsTGTGATGGTG (n.314-1840_314-1831delinsTGTGATGGTG) c.523_532delinsTGTGATGGTG (p.Cys175=) c.314-1013_314-1004delinsTGTGATGGTG (n.314-1013_314-1004delinsTGTGATGGTG) c.246_255delinsTGTGATGGTG n.796_805delinsTGTGATGGTG n.763_772delinsTGTGATGGTG | |
19 | g.11105556_11105561dup | CA10585040 | LDLR | c.908_913dup (p.Gly304_Gly305insAspGly) c.650_655dup (p.Gly218_Gly219insAspGly) c.904_909dup c.314-1836_314-1831dup (n.314-1836_314-1831dup) c.527_532dup (p.Gly177_Gly178insAspGly) c.314-1009_314-1004dup (n.314-1009_314-1004dup) c.250_255dup n.800_805dup n.767_772dup | dbSNP |
19 | g.[11105556_11105561dup;11105563_11105567del] | CA645373227 | LDLR | c.[908_913dup;915_919del] (p.[Gly304_Gly305insAspGly;Gly305=]) c.[650_655dup;657_661del] (p.[Gly218_Gly219insAspGly;Gly219=]) c.[904_909dup;911_915del] c.[314-1836_314-1831dup;314-1829_314-1825del] (n.[314-1836_314-1831dup;314-1829_314-1825del]) c.[527_532dup;534_538del] (p.[Gly177_Gly178insAspGly;Gly178=]) c.[314-1009_314-1004dup;314-1002_314-998del] (n.[314-1009_314-1004dup;314-1002_314-998del]) c.[250_255dup;257_261del] n.[800_805dup;807_811del] n.[767_772dup;774_778del] | |
19 | g.11105554_11105562del | CA10585038 | LDLR | c.906_914del (p.Asp303_Gly305del) c.648_656del (p.Asp217_Gly219del) c.902_910del c.314-1838_314-1830del (n.314-1838_314-1830del) c.525_533del (p.Asp176_Gly178del) c.314-1011_314-1003del (n.314-1011_314-1003del) c.248_256del n.798_806del n.765_773del | ClinVar dbSNP |
19 | g.11105556_11105558del | CA2573050578 | LDLR | c.908_910del (p.Asp303del) c.650_652del (p.Asp217del) c.904_906del c.314-1836_314-1834del (n.314-1836_314-1834del) c.527_529del (p.Asp176del) c.314-1009_314-1007del (n.314-1009_314-1007del) c.250_252del n.800_802del n.767_769del | |
19 | g.11105557_11105568del | CA2695223206 | LDLR | c.909_920del (p.Gly304_Asp307del) c.651_662del (p.Gly218_Asp221del) c.905_916del c.314-1835_314-1824del (n.314-1835_314-1824del) c.528_539del (p.Gly177_Asp180del) c.314-1008_314-997del (n.314-1008_314-997del) c.251_262del n.801_812del n.768_779del | |
19 | g.11105555_11105592delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | CA2322767575 | LDLR | c.907_944delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp303=) c.649_686delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp217=) c.903_940delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA c.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1837_314-1800delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.526_563delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (p.Asp176=) c.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA (n.314-1010_314-973delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA) c.249_286delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.799_836delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA n.766_803delinsGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGA | |
19 | g.11105556_11105559delinsATGG | CA2322767576 | LDLR | c.908_911delinsATGG (p.Asp303=) c.650_653delinsATGG (p.Asp217=) c.904_907delinsATGG c.314-1836_314-1833delinsATGG (n.314-1836_314-1833delinsATGG) c.527_530delinsATGG (p.Asp176=) c.314-1009_314-1006delinsATGG (n.314-1009_314-1006delinsATGG) c.250_253delinsATGG n.800_803delinsATGG n.767_770delinsATGG | |
19 | g.11105557_11105593del | CA10585041 | LDLR | c.909_945del (p.Asp303GlufsTer?) c.651_687del (p.Asp217GlufsTer?) c.905_941del c.314-1835_314-1799del (n.314-1835_314-1799del) c.528_564del (p.Asp176GlufsTer?) c.314-1008_314-972del (n.314-1008_314-972del) c.251_287del n.801_837del n.768_804del | ClinVar dbSNP |
19 | g.11105557_11105558delinsTG | CA2322767578 | LDLR | c.909_910delinsTG (p.Asp303=) c.651_652delinsTG (p.Asp217=) c.905_906delinsTG c.314-1835_314-1834delinsTG (n.314-1835_314-1834delinsTG) c.528_529delinsTG (p.Asp176=) c.314-1008_314-1007delinsTG (n.314-1008_314-1007delinsTG) c.251_252delinsTG n.801_802delinsTG n.768_769delinsTG | |
19 | g.11105560_11105562dup | CA2582473158 | LDLR | c.912_914dup (p.Gly305_Pro306insGly) c.654_656dup (p.Gly219_Pro220insGly) c.908_910dup c.314-1832_314-1830dup (n.314-1832_314-1830dup) c.531_533dup (p.Gly178_Pro179insGly) c.314-1005_314-1003dup (n.314-1005_314-1003dup) c.254_256dup n.804_806dup n.771_773dup | gnomAD v4 |
19 | g.11105560_11105562del | CA023734 | LDLR | c.912_914del (p.Gly305del) c.654_656del (p.Gly219del) c.908_910del c.314-1832_314-1830del (n.314-1832_314-1830del) c.531_533del (p.Gly178del) c.314-1005_314-1003del (n.314-1005_314-1003del) c.254_256del n.804_806del n.771_773del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105558G>A | CA404078257 | LDLR | c.910G>A (p.Gly304Ser) c.652G>A (p.Gly218Ser) c.906G>A c.314-1834G>A (n.314-1834G>A) c.529G>A (p.Gly177Ser) c.314-1007G>A (n.314-1007G>A) c.252G>A n.802G>A n.769G>A | |
19 | g.11105558G>C | CA404078259 | LDLR | c.910G>C (p.Gly304Arg) c.652G>C (p.Gly218Arg) c.906G>C c.314-1834G>C (n.314-1834G>C) c.529G>C (p.Gly177Arg) c.314-1007G>C (n.314-1007G>C) c.252G>C n.802G>C n.769G>C | |
19 | g.11105558G>T | CA404078263 | LDLR | c.910G>T (p.Gly304Cys) c.652G>T (p.Gly218Cys) c.906G>T c.314-1834G>T (n.314-1834G>T) c.529G>T (p.Gly177Cys) c.314-1007G>T (n.314-1007G>T) c.252G>T n.802G>T n.769G>T | |
19 | g.11105559del | CA023735 | LDLR | c.911del (p.Gly304ValfsTer?) c.653del (p.Gly218ValfsTer?) c.907del c.314-1833del (n.314-1833del) c.530del (p.Gly177ValfsTer?) c.314-1006del (n.314-1006del) c.253del n.803del n.770del | ClinVar dbSNP gnomAD v4 |
19 | g.11105559G>A | CA404078270 | LDLR | c.911G>A (p.Gly304Asp) c.653G>A (p.Gly218Asp) c.907G>A c.314-1833G>A (n.314-1833G>A) c.530G>A (p.Gly177Asp) c.314-1006G>A (n.314-1006G>A) c.253G>A n.803G>A n.770G>A | |
19 | g.11105559G>C | CA404078271 | LDLR | c.911G>C (p.Gly304Ala) c.653G>C (p.Gly218Ala) c.907G>C c.314-1833G>C (n.314-1833G>C) c.530G>C (p.Gly177Ala) c.314-1006G>C (n.314-1006G>C) c.253G>C n.803G>C n.770G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105559G= | CA2322767580 | LDLR | c.911G= (p.Gly304=) c.653G= (p.Gly218=) c.907G= c.314-1833G= (n.314-1833G=) c.530G= (p.Gly177=) c.314-1006G= (n.314-1006G=) c.253G= n.803G= n.770G= | |
19 | g.11105559G>T | CA404078274 | LDLR | c.911G>T (p.Gly304Val) c.653G>T (p.Gly218Val) c.907G>T c.314-1833G>T (n.314-1833G>T) c.530G>T (p.Gly177Val) c.314-1006G>T (n.314-1006G>T) c.253G>T n.803G>T n.770G>T | |
19 | g.11105560_11105561del | CA2695223207 | LDLR | c.912_913del (p.Gly305ProfsTer8) c.654_655del (p.Gly219ProfsTer8) c.908_909del c.314-1832_314-1831del (n.314-1832_314-1831del) c.531_532del (p.Gly178ProfsTer8) c.314-1005_314-1004del (n.314-1005_314-1004del) c.254_255del n.804_805del n.771_772del | |
19 | g.11105560_11105588del | CA2695223208 | LDLR | c.912_940del (p.Pro306LysfsTer10) c.654_682del (p.Pro220LysfsTer10) c.908_936del c.314-1832_314-1804del (n.314-1832_314-1804del) c.531_559del (p.Pro179LysfsTer10) c.314-1005_314-977del (n.314-1005_314-977del) c.254_282del n.804_832del n.771_799del | |
19 | g.11105560T>A | CA505743501 | LDLR | c.912T>A (p.Gly304=) c.654T>A (p.Gly218=) c.908T>A c.314-1832T>A (n.314-1832T>A) c.531T>A (p.Gly177=) c.314-1005T>A (n.314-1005T>A) c.254T>A n.804T>A n.771T>A | |
19 | g.11105560T>C | CA505743502 | LDLR | c.912T>C (p.Gly304=) c.654T>C (p.Gly218=) c.908T>C c.314-1832T>C (n.314-1832T>C) c.531T>C (p.Gly177=) c.314-1005T>C (n.314-1005T>C) c.254T>C n.804T>C n.771T>C | gnomAD v4 |
19 | g.11105560T>G | CA505743503 | LDLR | c.912T>G (p.Gly304=) c.654T>G (p.Gly218=) c.908T>G c.314-1832T>G (n.314-1832T>G) c.531T>G (p.Gly177=) c.314-1005T>G (n.314-1005T>G) c.254T>G n.804T>G n.771T>G | |
19 | g.11105560_11105563delinsTGGC | CA2322767581 | LDLR | c.912_915delinsTGGC (p.Gly304=) c.654_657delinsTGGC (p.Gly218=) c.908_911delinsTGGC c.314-1832_314-1829delinsTGGC (n.314-1832_314-1829delinsTGGC) c.531_534delinsTGGC (p.Gly177=) c.314-1005_314-1002delinsTGGC (n.314-1005_314-1002delinsTGGC) c.254_257delinsTGGC n.804_807delinsTGGC n.771_774delinsTGGC | |
19 | g.11105560_11105566delinsTGGCCCC | CA2322767582 | LDLR | c.912_918delinsTGGCCCC (p.Gly304=) c.654_660delinsTGGCCCC (p.Gly218=) c.908_914delinsTGGCCCC c.314-1832_314-1826delinsTGGCCCC (n.314-1832_314-1826delinsTGGCCCC) c.531_537delinsTGGCCCC (p.Gly177=) c.314-1005_314-999delinsTGGCCCC (n.314-1005_314-999delinsTGGCCCC) c.254_260delinsTGGCCCC n.804_810delinsTGGCCCC n.771_777delinsTGGCCCC | |
19 | g.11105561G>A | CA404078290 | LDLR | c.913G>A (p.Gly305Ser) c.655G>A (p.Gly219Ser) c.909G>A c.314-1831G>A (n.314-1831G>A) c.532G>A (p.Gly178Ser) c.314-1004G>A (n.314-1004G>A) c.255G>A n.805G>A n.772G>A | |
19 | g.11105561G>C | CA404078285 | LDLR | c.913G>C (p.Gly305Arg) c.655G>C (p.Gly219Arg) c.909G>C c.314-1831G>C (n.314-1831G>C) c.532G>C (p.Gly178Arg) c.314-1004G>C (n.314-1004G>C) c.255G>C n.805G>C n.772G>C | |
19 | g.11105561G>T | CA404078288 | LDLR | c.913G>T (p.Gly305Cys) c.655G>T (p.Gly219Cys) c.909G>T c.314-1831G>T (n.314-1831G>T) c.532G>T (p.Gly178Cys) c.314-1004G>T (n.314-1004G>T) c.255G>T n.805G>T n.772G>T | gnomAD v4 |
19 | g.11105561_11105563del | CA10585042 | LDLR | c.913_915del (p.Gly305del) c.655_657del (p.Gly219del) c.909_911del c.314-1831_314-1829del (n.314-1831_314-1829del) c.532_534del (p.Gly178del) c.314-1004_314-1002del (n.314-1004_314-1002del) c.255_257del n.805_807del n.772_774del | ClinVar dbSNP |
19 | g.11105561_11105566delinsGGCCCC | CA2322767583 | LDLR | c.913_918delinsGGCCCC (p.Gly305=) c.655_660delinsGGCCCC (p.Gly219=) c.909_914delinsGGCCCC c.314-1831_314-1826delinsGGCCCC (n.314-1831_314-1826delinsGGCCCC) c.532_537delinsGGCCCC (p.Gly178=) c.314-1004_314-999delinsGGCCCC (n.314-1004_314-999delinsGGCCCC) c.255_260delinsGGCCCC n.805_810delinsGGCCCC n.772_777delinsGGCCCC | |
19 | g.11105562_11105567del | CA10585043 | LDLR | c.914_919del (p.Gly305_Pro306del) c.656_661del (p.Gly219_Pro220del) c.910_915del c.314-1830_314-1825del (n.314-1830_314-1825del) c.533_538del (p.Gly178_Pro179del) c.314-1003_314-998del (n.314-1003_314-998del) c.256_261del n.806_811del n.773_778del | ClinVar dbSNP gnomAD v4 |
19 | g.11105562G>A | CA023738 | LDLR | c.914G>A (p.Gly305Asp) c.656G>A (p.Gly219Asp) c.910G>A c.314-1830G>A (n.314-1830G>A) c.533G>A (p.Gly178Asp) c.314-1003G>A (n.314-1003G>A) c.256G>A n.806G>A n.773G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105562G>C | CA404078295 | LDLR | c.914G>C (p.Gly305Ala) c.656G>C (p.Gly219Ala) c.910G>C c.314-1830G>C (n.314-1830G>C) c.533G>C (p.Gly178Ala) c.314-1003G>C (n.314-1003G>C) c.256G>C n.806G>C n.773G>C | |
19 | g.11105562G= | CA2322767586 | LDLR | c.914G= (p.Gly305=) c.656G= (p.Gly219=) c.910G= c.314-1830G= (n.314-1830G=) c.533G= (p.Gly178=) c.314-1003G= (n.314-1003G=) c.256G= n.806G= n.773G= | |
19 | g.11105562G>T | CA404078297 | LDLR | c.914G>T (p.Gly305Val) c.656G>T (p.Gly219Val) c.910G>T c.314-1830G>T (n.314-1830G>T) c.533G>T (p.Gly178Val) c.314-1003G>T (n.314-1003G>T) c.256G>T n.806G>T n.773G>T | |
19 | g.11105562_11105563delinsGC | CA2322767585 | LDLR | c.914_915delinsGC (p.Gly305=) c.656_657delinsGC (p.Gly219=) c.910_911delinsGC c.314-1830_314-1829delinsGC (n.314-1830_314-1829delinsGC) c.533_534delinsGC (p.Gly178=) c.314-1003_314-1002delinsGC (n.314-1003_314-1002delinsGC) c.256_257delinsGC n.806_807delinsGC n.773_774delinsGC | |
19 | g.11105563_11105567dup | CA10585045 | LDLR | c.915_919dup (p.Asp307AlafsTer?) c.657_661dup (p.Asp221AlafsTer?) c.911_915dup c.314-1829_314-1825dup (n.314-1829_314-1825dup) c.534_538dup (p.Asp180AlafsTer?) c.314-1002_314-998dup (n.314-1002_314-998dup) c.257_261dup n.807_811dup n.774_778dup | ClinVar dbSNP |
19 | g.11105563_11105567del | CA10585044 | LDLR | c.915_919del (p.Pro306LeufsTer6) c.657_661del (p.Pro220LeufsTer6) c.911_915del c.314-1829_314-1825del (n.314-1829_314-1825del) c.534_538del (p.Pro179LeufsTer6) c.314-1002_314-998del (n.314-1002_314-998del) c.257_261del n.807_811del n.774_778del | dbSNP |
19 | g.11105562_11105568delinsGCCCCGA | CA2322767584 | LDLR | c.914_920delinsGCCCCGA (p.Gly305=) c.656_662delinsGCCCCGA (p.Gly219=) c.910_916delinsGCCCCGA c.314-1830_314-1824delinsGCCCCGA (n.314-1830_314-1824delinsGCCCCGA) c.533_539delinsGCCCCGA (p.Gly178=) c.314-1003_314-997delinsGCCCCGA (n.314-1003_314-997delinsGCCCCGA) c.256_262delinsGCCCCGA n.806_812delinsGCCCCGA n.773_779delinsGCCCCGA | |
19 | g.11105563C>A | CA505743505 | LDLR | c.915C>A (p.Gly305=) c.657C>A (p.Gly219=) c.911C>A c.314-1829C>A (n.314-1829C>A) c.534C>A (p.Gly178=) c.314-1002C>A (n.314-1002C>A) c.257C>A n.807C>A n.774C>A | gnomAD v4 |
19 | g.11105563C= | CA2322767587 | LDLR | c.915C= (p.Gly305=) c.657C= (p.Gly219=) c.911C= c.314-1829C= (n.314-1829C=) c.534C= (p.Gly178=) c.314-1002C= (n.314-1002C=) c.257C= n.807C= n.774C= | |
19 | g.11105563C>G | CA305296930 | LDLR | c.915C>G (p.Gly305=) c.657C>G (p.Gly219=) c.911C>G c.314-1829C>G (n.314-1829C>G) c.534C>G (p.Gly178=) c.314-1002C>G (n.314-1002C>G) c.257C>G n.807C>G n.774C>G | ClinVar dbSNP |
19 | g.11105563C>T | CA505743504 | LDLR | c.915C>T (p.Gly305=) c.657C>T (p.Gly219=) c.911C>T c.314-1829C>T (n.314-1829C>T) c.534C>T (p.Gly178=) c.314-1002C>T (n.314-1002C>T) c.257C>T n.807C>T n.774C>T | ClinVar dbSNP |
19 | g.11105563_11105566delinsATGGT | CA2573050579 | LDLR | c.915_918delinsATGGT (p.Pro306TrpfsTer2) c.657_660delinsATGGT (p.Pro220TrpfsTer2) c.911_914delinsATGGT c.314-1829_314-1826delinsATGGT (n.314-1829_314-1826delinsATGGT) c.534_537delinsATGGT (p.Pro179TrpfsTer2) c.314-1002_314-999delinsATGGT (n.314-1002_314-999delinsATGGT) c.257_260delinsATGGT n.807_810delinsATGGT n.774_777delinsATGGT | |
19 | g.11105566dup | CA2840305519 | LDLR | c.918dup (p.Asp307ArgfsTer7) c.660dup (p.Asp221ArgfsTer7) c.914dup c.314-1826dup (n.314-1826dup) c.537dup (p.Asp180ArgfsTer7) c.314-999dup (n.314-999dup) c.260dup n.810dup n.777dup | |
19 | g.11105566del | CA10576286 | LDLR | c.918del (p.Asp307ThrfsTer?) c.660del (p.Asp221ThrfsTer?) c.914del c.314-1826del (n.314-1826del) c.537del (p.Asp180ThrfsTer?) c.314-999del (n.314-999del) c.260del n.810del n.777del | ClinVar dbSNP |
19 | g.11105564_11105569del | CA645509262 | LDLR | c.916_921del (p.Pro306_Asp307del) c.658_663del (p.Pro220_Asp221del) c.912_917del c.314-1828_314-1823del (n.314-1828_314-1823del) c.535_540del (p.Pro179_Asp180del) c.314-1001_314-996del (n.314-1001_314-996del) c.258_263del n.808_813del n.775_780del | ClinVar dbSNP |
19 | g.11105564C>A | CA404078311 | LDLR | c.916C>A (p.Pro306Thr) c.658C>A (p.Pro220Thr) c.912C>A c.314-1828C>A (n.314-1828C>A) c.535C>A (p.Pro179Thr) c.314-1001C>A (n.314-1001C>A) c.258C>A n.808C>A n.775C>A | |
19 | g.11105564C= | CA2322767588 | LDLR | c.916C= (p.Pro306=) c.658C= (p.Pro220=) c.912C= c.314-1828C= (n.314-1828C=) c.535C= (p.Pro179=) c.314-1001C= (n.314-1001C=) c.258C= n.808C= n.775C= | |
19 | g.11105564C>G | CA404078308 | LDLR | c.916C>G (p.Pro306Ala) c.658C>G (p.Pro220Ala) c.912C>G c.314-1828C>G (n.314-1828C>G) c.535C>G (p.Pro179Ala) c.314-1001C>G (n.314-1001C>G) c.258C>G n.808C>G n.775C>G | |
19 | g.11105564C>T | CA404078305 | LDLR | c.916C>T (p.Pro306Ser) c.658C>T (p.Pro220Ser) c.912C>T c.314-1828C>T (n.314-1828C>T) c.535C>T (p.Pro179Ser) c.314-1001C>T (n.314-1001C>T) c.258C>T n.808C>T n.775C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105564_11105565delinsTGTGATGG | CA2580096472 | LDLR | c.916_917delinsTGTGATGG (p.Pro306delinsCysAspGly) c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly) c.912_913delinsTGTGATGG c.314-1828_314-1827delinsTGTGATGG (n.314-1828_314-1827delinsTGTGATGG) c.535_536delinsTGTGATGG (p.Pro179delinsCysAspGly) c.314-1001_314-1000delinsTGTGATGG (n.314-1001_314-1000delinsTGTGATGG) c.258_259delinsTGTGATGG n.808_809delinsTGTGATGG n.775_776delinsTGTGATGG | ClinVar |
19 | g.11105565C>A | CA404078315 | LDLR | c.917C>A (p.Pro306His) c.659C>A (p.Pro220His) c.913C>A c.314-1827C>A (n.314-1827C>A) c.536C>A (p.Pro179His) c.314-1000C>A (n.314-1000C>A) c.259C>A n.809C>A n.776C>A | |
19 | g.11105565C= | CA2322767590 | LDLR | c.917C= (p.Pro306=) c.659C= (p.Pro220=) c.913C= c.314-1827C= (n.314-1827C=) c.536C= (p.Pro179=) c.314-1000C= (n.314-1000C=) c.259C= n.809C= n.776C= | |
19 | g.11105565C>G | CA404078318 | LDLR | c.917C>G (p.Pro306Arg) c.659C>G (p.Pro220Arg) c.913C>G c.314-1827C>G (n.314-1827C>G) c.536C>G (p.Pro179Arg) c.314-1000C>G (n.314-1000C>G) c.259C>G n.809C>G n.776C>G | gnomAD v4 |
19 | g.11105565C>T | CA404078321 | LDLR | c.917C>T (p.Pro306Leu) c.659C>T (p.Pro220Leu) c.913C>T c.314-1827C>T (n.314-1827C>T) c.536C>T (p.Pro179Leu) c.314-1000C>T (n.314-1000C>T) c.259C>T n.809C>T n.776C>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105566_11105572dup | CA16602304 | LDLR | c.918_924dup (p.Lys309ArgfsTer7) c.660_666dup (p.Lys223ArgfsTer7) c.914_920dup c.314-1826_314-1820dup (n.314-1826_314-1820dup) c.537_543dup (p.Lys182ArgfsTer7) c.314-999_314-993dup (n.314-999_314-993dup) c.260_266dup n.810_816dup n.777_783dup | ClinVar dbSNP |
19 | g.11105565_11105582delinsCCGACTGCAAGGACAAAT | CA2322767589 | LDLR | c.917_934delinsCCGACTGCAAGGACAAAT (p.Pro306=) c.659_676delinsCCGACTGCAAGGACAAAT (p.Pro220=) c.913_930delinsCCGACTGCAAGGACAAAT c.314-1827_314-1810delinsCCGACTGCAAGGACAAAT (n.314-1827_314-1810delinsCCGACTGCAAGGACAAAT) c.536_553delinsCCGACTGCAAGGACAAAT (p.Pro179=) c.314-1000_314-983delinsCCGACTGCAAGGACAAAT (n.314-1000_314-983delinsCCGACTGCAAGGACAAAT) c.259_276delinsCCGACTGCAAGGACAAAT n.809_826delinsCCGACTGCAAGGACAAAT n.776_793delinsCCGACTGCAAGGACAAAT | |
19 | g.11105566C>A | CA505743506 | LDLR | c.918C>A (p.Pro306=) c.660C>A (p.Pro220=) c.914C>A c.314-1826C>A (n.314-1826C>A) c.537C>A (p.Pro179=) c.314-999C>A (n.314-999C>A) c.260C>A n.810C>A n.777C>A | dbSNP gnomAD v4 |
19 | g.11105566C= | CA2322767592 | LDLR | c.918C= (p.Pro306=) c.660C= (p.Pro220=) c.914C= c.314-1826C= (n.314-1826C=) c.537C= (p.Pro179=) c.314-999C= (n.314-999C=) c.260C= n.810C= n.777C= | |
19 | g.11105566C>G | CA505743507 | LDLR | c.918C>G (p.Pro306=) c.660C>G (p.Pro220=) c.914C>G c.314-1826C>G (n.314-1826C>G) c.537C>G (p.Pro179=) c.314-999C>G (n.314-999C>G) c.260C>G n.810C>G n.777C>G | gnomAD v4 |
19 | g.11105566C>T | CA044242 | LDLR | c.918C>T (p.Pro306=) c.660C>T (p.Pro220=) c.914C>T c.314-1826C>T (n.314-1826C>T) c.537C>T (p.Pro179=) c.314-999C>T (n.314-999C>T) c.260C>T n.810C>T n.777C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105566_11105567delinsCG | CA2322767591 | LDLR | c.918_919delinsCG (p.Pro306=) c.660_661delinsCG (p.Pro220=) c.914_915delinsCG c.314-1826_314-1825delinsCG (n.314-1826_314-1825delinsCG) c.537_538delinsCG (p.Pro179=) c.314-999_314-998delinsCG (n.314-999_314-998delinsCG) c.260_261delinsCG n.810_811delinsCG n.777_778delinsCG | |
19 | g.11105567_11105569del | CA2497030142 | LDLR | c.919_921del (p.Asp307del) c.661_663del (p.Asp221del) c.915_917del c.314-1825_314-1823del (n.314-1825_314-1823del) c.538_540del (p.Asp180del) c.314-998_314-996del (n.314-998_314-996del) c.261_263del n.811_813del n.778_780del | |
19 | g.11105567_11105572dup | CA2695223209 | LDLR | c.919_924dup (p.Cys308_Lys309insAspCys) c.661_666dup (p.Cys222_Lys223insAspCys) c.915_920dup c.314-1825_314-1820dup (n.314-1825_314-1820dup) c.538_543dup (p.Cys181_Lys182insAspCys) c.314-998_314-993dup (n.314-998_314-993dup) c.261_266dup n.811_816dup n.778_783dup | |
19 | g.11105567_11105583del | CA10585048 | LDLR | c.919_935del (p.Asp307Ter) c.661_677del (p.Asp221Ter) c.915_931del c.314-1825_314-1809del (n.314-1825_314-1809del) c.538_554del (p.Asp180Ter) c.314-998_314-982del (n.314-998_314-982del) c.261_277del n.811_827del n.778_794del | ClinVar dbSNP |
19 | g.11105566_11105584delinsCGACTGCAAGGACAAATCT | CA2322767593 | LDLR | c.918_936delinsCGACTGCAAGGACAAATCT (p.Pro306=) c.660_678delinsCGACTGCAAGGACAAATCT (p.Pro220=) c.914_932delinsCGACTGCAAGGACAAATCT c.314-1826_314-1808delinsCGACTGCAAGGACAAATCT (n.314-1826_314-1808delinsCGACTGCAAGGACAAATCT) c.537_555delinsCGACTGCAAGGACAAATCT (p.Pro179=) c.314-999_314-981delinsCGACTGCAAGGACAAATCT (n.314-999_314-981delinsCGACTGCAAGGACAAATCT) c.260_278delinsCGACTGCAAGGACAAATCT n.810_828delinsCGACTGCAAGGACAAATCT n.777_795delinsCGACTGCAAGGACAAATCT | |
19 | g.11105569_11105589dup | CA10585050 | LDLR | c.921_941dup (p.Asp313_Glu314insAspCysLysAspLysSerAsp) c.663_683dup (p.Asp227_Glu228insAspCysLysAspLysSerAsp) c.917_937dup c.314-1823_314-1803dup (n.314-1823_314-1803dup) c.540_560dup (p.Asp186_Glu187insAspCysLysAspLysSerAsp) c.314-996_314-976dup (n.314-996_314-976dup) c.263_283dup n.813_833dup n.780_800dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105566_11105567insTG | CA358877 | LDLR | c.918_919insTG (p.Asp307TrpfsTer?) c.660_661insTG (p.Asp221TrpfsTer?) c.914_915insTG c.314-1826_314-1825insTG (n.314-1826_314-1825insTG) c.537_538insTG (p.Asp180TrpfsTer?) c.314-999_314-998insTG (n.314-999_314-998insTG) c.260_261insTG n.810_811insTG n.777_778insTG | ClinVar dbSNP |
19 | g.11105567G>A | CA10576287 | LDLR | c.919G>A (p.Asp307Asn) c.661G>A (p.Asp221Asn) c.915G>A c.314-1825G>A (n.314-1825G>A) c.538G>A (p.Asp180Asn) c.314-998G>A (n.314-998G>A) c.261G>A n.811G>A n.778G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105567G>C | CA404078332 | LDLR | c.919G>C (p.Asp307His) c.661G>C (p.Asp221His) c.915G>C c.314-1825G>C (n.314-1825G>C) c.538G>C (p.Asp180His) c.314-998G>C (n.314-998G>C) c.261G>C n.811G>C n.778G>C | |
19 | g.11105567G= | CA2322767594 | LDLR | c.919G= (p.Asp307=) c.661G= (p.Asp221=) c.915G= c.314-1825G= (n.314-1825G=) c.538G= (p.Asp180=) c.314-998G= (n.314-998G=) c.261G= n.811G= n.778G= | |
19 | g.11105567G>T | CA10585046 | LDLR | c.919G>T (p.Asp307Tyr) c.661G>T (p.Asp221Tyr) c.915G>T c.314-1825G>T (n.314-1825G>T) c.538G>T (p.Asp180Tyr) c.314-998G>T (n.314-998G>T) c.261G>T n.811G>T n.778G>T | ClinVar dbSNP |
19 | g.11105567delinsCA | CA2573332391 | LDLR | c.919delinsCA (p.Asp307GlnfsTer7) c.661delinsCA (p.Asp221GlnfsTer7) c.915delinsCA c.314-1825delinsCA (n.314-1825delinsCA) c.538delinsCA (p.Asp180GlnfsTer7) c.314-998delinsCA (n.314-998delinsCA) c.261delinsCA n.811delinsCA n.778delinsCA | |
19 | g.11105567delinsATCAC | CA1139666253 | LDLR | c.919delinsATCAC (p.Asp307IlefsTer8) c.661delinsATCAC (p.Asp221IlefsTer8) c.915delinsATCAC c.314-1825delinsATCAC (n.314-1825delinsATCAC) c.538delinsATCAC (p.Asp180IlefsTer8) c.314-998delinsATCAC (n.314-998delinsATCAC) c.261delinsATCAC n.811delinsATCAC n.778delinsATCAC | ClinVar dbSNP |
19 | g.11105568_11105571dup | CA2573130222 | LDLR | c.920_923dup (p.Cys308Ter) c.662_665dup (p.Cys222Ter) c.916_919dup c.314-1824_314-1821dup (n.314-1824_314-1821dup) c.539_542dup (p.Cys181Ter) c.314-997_314-994dup (n.314-997_314-994dup) c.262_265dup n.812_815dup n.779_782dup | |
19 | g.11105568_11105575del | CA2695238678 | LDLR | c.920_927del (p.Asp307GlyfsTer4) c.662_669del (p.Asp221GlyfsTer4) c.916_923del c.314-1824_314-1817del (n.314-1824_314-1817del) c.539_546del (p.Asp180GlyfsTer4) c.314-997_314-990del (n.314-997_314-990del) c.262_269del n.812_819del n.779_786del | |
19 | g.11105570_11105578dup | CA2830763870 | LDLR | c.922_930dup (p.Asp310_Lys311insCysLysAsp) c.664_672dup (p.Asp224_Lys225insCysLysAsp) c.918_926dup c.314-1822_314-1814dup (n.314-1822_314-1814dup) c.541_549dup (p.Asp183_Lys184insCysLysAsp) c.314-995_314-987dup (n.314-995_314-987dup) c.264_272dup n.814_822dup n.781_789dup | |
19 | g.11105570_11105578del | CA2739276481 | LDLR | c.922_930del (p.Cys308_Asp310del) c.664_672del (p.Cys222_Asp224del) c.918_926del c.314-1822_314-1814del (n.314-1822_314-1814del) c.541_549del (p.Cys181_Asp183del) c.314-995_314-987del (n.314-995_314-987del) c.264_272del n.814_822del n.781_789del | ClinVar |
19 | g.11105567_11105579dup | CA10585047 | LDLR | c.919_931dup (p.Lys311ArgfsTer7) c.661_673dup (p.Lys225ArgfsTer7) c.915_927dup c.314-1825_314-1813dup (n.314-1825_314-1813dup) c.538_550dup (p.Lys184ArgfsTer7) c.314-998_314-986dup (n.314-998_314-986dup) c.261_273dup n.811_823dup n.778_790dup | ClinVar dbSNP |
19 | g.11105570_11105587dup | CA250482 | LDLR | c.922_939dup (p.Asp313_Glu314insCysLysAspLysSerAsp) c.664_681dup (p.Asp227_Glu228insCysLysAspLysSerAsp) c.918_935dup c.314-1822_314-1805dup (n.314-1822_314-1805dup) c.541_558dup (p.Asp186_Glu187insCysLysAspLysSerAsp) c.314-995_314-978dup (n.314-995_314-978dup) c.264_281dup n.814_831dup n.781_798dup | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105570_11105587del | CA16602305 | LDLR | c.922_939del (p.Cys308_Asp313del) c.664_681del (p.Cys222_Asp227del) c.918_935del c.314-1822_314-1805del (n.314-1822_314-1805del) c.541_558del (p.Cys181_Asp186del) c.314-995_314-978del (n.314-995_314-978del) c.264_281del n.814_831del n.781_798del | ClinVar dbSNP |
19 | g.11105567_11105588dup | CA2695238672 | LDLR | c.919_940dup (p.Glu314GlyfsTer7) c.661_682dup (p.Glu228GlyfsTer7) c.915_936dup c.314-1825_314-1804dup (n.314-1825_314-1804dup) c.538_559dup (p.Glu187GlyfsTer7) c.314-998_314-977dup (n.314-998_314-977dup) c.261_282dup n.811_832dup n.778_799dup | |
19 | g.11105567_11105594delinsGACTGCAAGGACAAATCTGACGAGGAAA | CA2322767595 | LDLR | c.919_946delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp307=) c.661_688delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp221=) c.915_942delinsGACTGCAAGGACAAATCTGACGAGGAAA c.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-1825_314-1798delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.538_565delinsGACTGCAAGGACAAATCTGACGAGGAAA (p.Asp180=) c.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA (n.314-998_314-971delinsGACTGCAAGGACAAATCTGACGAGGAAA) c.261_288delinsGACTGCAAGGACAAATCTGACGAGGAAA n.811_838delinsGACTGCAAGGACAAATCTGACGAGGAAA n.778_805delinsGACTGCAAGGACAAATCTGACGAGGAAA | |
19 | g.11105568A= | CA2322767596 | LDLR | c.920A= (p.Asp307=) c.662A= (p.Asp221=) c.916A= c.314-1824A= (n.314-1824A=) c.539A= (p.Asp180=) c.314-997A= (n.314-997A=) c.262A= n.812A= n.779A= | |
19 | g.11105568A>C | CA404078340 | LDLR | c.920A>C (p.Asp307Ala) c.662A>C (p.Asp221Ala) c.916A>C c.314-1824A>C (n.314-1824A>C) c.539A>C (p.Asp180Ala) c.314-997A>C (n.314-997A>C) c.262A>C n.812A>C n.779A>C | |
19 | g.11105568A>G | CA023739 | LDLR | c.920A>G (p.Asp307Gly) c.662A>G (p.Asp221Gly) c.916A>G c.314-1824A>G (n.314-1824A>G) c.539A>G (p.Asp180Gly) c.314-997A>G (n.314-997A>G) c.262A>G n.812A>G n.779A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105568A>T | CA10585049 | LDLR | c.920A>T (p.Asp307Val) c.662A>T (p.Asp221Val) c.916A>T c.314-1824A>T (n.314-1824A>T) c.539A>T (p.Asp180Val) c.314-997A>T (n.314-997A>T) c.262A>T n.812A>T n.779A>T | ClinVar dbSNP |
19 | g.11105568_11105587dup | CA645509263 | LDLR | c.920_939dup (p.Glu314ThrfsTer?) c.662_681dup (p.Glu228ThrfsTer?) c.916_935dup c.314-1824_314-1805dup (n.314-1824_314-1805dup) c.539_558dup (p.Glu187ThrfsTer?) c.314-997_314-978dup (n.314-997_314-978dup) c.262_281dup n.812_831dup n.779_798dup | ClinVar dbSNP |
19 | g.11105573_11105599del | CA10585056 | LDLR | c.925_951del (p.Lys309_Cys317del) c.667_693del (p.Lys223_Cys231del) c.921_947del c.314-1819_314-1793del (n.314-1819_314-1793del) c.544_570del (p.Lys182_Cys190del) c.314-992_314-966del (n.314-992_314-966del) c.267_293del n.817_843del n.784_810del | ClinVar dbSNP |
19 | g.11105569C>A | CA404078344 | LDLR | c.921C>A (p.Asp307Glu) c.663C>A (p.Asp221Glu) c.917C>A c.314-1823C>A (n.314-1823C>A) c.540C>A (p.Asp180Glu) c.314-996C>A (n.314-996C>A) c.263C>A n.813C>A n.780C>A | |
19 | g.11105569C= | CA2322767598 | LDLR | c.921C= (p.Asp307=) c.663C= (p.Asp221=) c.917C= c.314-1823C= (n.314-1823C=) c.540C= (p.Asp180=) c.314-996C= (n.314-996C=) c.263C= n.813C= n.780C= | |
19 | g.11105569C>G | CA404078342 | LDLR | c.921C>G (p.Asp307Glu) c.663C>G (p.Asp221Glu) c.917C>G c.314-1823C>G (n.314-1823C>G) c.540C>G (p.Asp180Glu) c.314-996C>G (n.314-996C>G) c.263C>G n.813C>G n.780C>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105569C>T | CA505743508 | LDLR | c.921C>T (p.Asp307=) c.663C>T (p.Asp221=) c.917C>T c.314-1823C>T (n.314-1823C>T) c.540C>T (p.Asp180=) c.314-996C>T (n.314-996C>T) c.263C>T n.813C>T n.780C>T | ClinVar |
19 | g.11105569_11105570insCCCGC | CA2573050580 | LDLR | c.921_922insCCCGC (p.Cys308ProfsTer?) c.663_664insCCCGC (p.Cys222ProfsTer?) c.917_918insCCCGC c.314-1823_314-1822insCCCGC (n.314-1823_314-1822insCCCGC) c.540_541insCCCGC (p.Cys181ProfsTer?) c.314-996_314-995insCCCGC (n.314-996_314-995insCCCGC) c.263_264insCCCGC n.813_814insCCCGC n.780_781insCCCGC | |
19 | g.11105572_11105585del | CA2582473248 | LDLR | c.924_937del (p.Cys308Ter) c.666_679del (p.Cys222Ter) c.920_933del c.314-1820_314-1807del (n.314-1820_314-1807del) c.543_556del (p.Cys181Ter) c.314-993_314-980del (n.314-993_314-980del) c.266_279del n.816_829del n.783_796del | gnomAD v4 |
19 | g.11105569_11105587delinsCTGCAAGGACAAATCTGAC | CA2322767597 | LDLR | c.921_939delinsCTGCAAGGACAAATCTGAC (p.Asp307=) c.663_681delinsCTGCAAGGACAAATCTGAC (p.Asp221=) c.917_935delinsCTGCAAGGACAAATCTGAC c.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC (n.314-1823_314-1805delinsCTGCAAGGACAAATCTGAC) c.540_558delinsCTGCAAGGACAAATCTGAC (p.Asp180=) c.314-996_314-978delinsCTGCAAGGACAAATCTGAC (n.314-996_314-978delinsCTGCAAGGACAAATCTGAC) c.263_281delinsCTGCAAGGACAAATCTGAC n.813_831delinsCTGCAAGGACAAATCTGAC n.780_798delinsCTGCAAGGACAAATCTGAC | |
19 | g.11105569_11105587dup | CA2582473247 | LDLR | c.921_939dup (p.Glu314LeufsTer6) c.663_681dup (p.Glu228LeufsTer6) c.917_935dup c.314-1823_314-1805dup (n.314-1823_314-1805dup) c.540_558dup (p.Glu187LeufsTer6) c.314-996_314-978dup (n.314-996_314-978dup) c.263_281dup n.813_831dup n.780_798dup | gnomAD v4 |
19 | g.11105570T>A | CA404078346 | LDLR | c.922T>A (p.Cys308Ser) c.664T>A (p.Cys222Ser) c.918T>A c.314-1822T>A (n.314-1822T>A) c.541T>A (p.Cys181Ser) c.314-995T>A (n.314-995T>A) c.264T>A n.814T>A n.781T>A | |
19 | g.11105570T>C | CA044260 | LDLR | c.922T>C (p.Cys308Arg) c.664T>C (p.Cys222Arg) c.918T>C c.314-1822T>C (n.314-1822T>C) c.541T>C (p.Cys181Arg) c.314-995T>C (n.314-995T>C) c.264T>C n.814T>C n.781T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105570T>G | CA10585051 | LDLR | c.922T>G (p.Cys308Gly) c.664T>G (p.Cys222Gly) c.918T>G c.314-1822T>G (n.314-1822T>G) c.541T>G (p.Cys181Gly) c.314-995T>G (n.314-995T>G) c.264T>G n.814T>G n.781T>G | ClinVar dbSNP |
19 | g.11105570T= | CA2322767599 | LDLR | c.922T= (p.Cys308=) c.664T= (p.Cys222=) c.918T= c.314-1822T= (n.314-1822T=) c.541T= (p.Cys181=) c.314-995T= (n.314-995T=) c.264T= n.814T= n.781T= | |
19 | g.11105570_11105587delinsCCGACTG | CA10585052 | LDLR | c.922_939delinsCCGACTG (p.Cys308ProfsTer14) c.664_681delinsCCGACTG (p.Cys222ProfsTer14) c.918_935delinsCCGACTG c.314-1822_314-1805delinsCCGACTG (n.314-1822_314-1805delinsCCGACTG) c.541_558delinsCCGACTG (p.Cys181ProfsTer14) c.314-995_314-978delinsCCGACTG (n.314-995_314-978delinsCCGACTG) c.264_281delinsCCGACTG n.814_831delinsCCGACTG n.781_798delinsCCGACTG | ClinVar dbSNP |
19 | g.11105570_11105588dup | CA2695238671 | LDLR | c.922_940dup (p.Glu314ValfsTer6) c.664_682dup (p.Glu228ValfsTer6) c.918_936dup c.314-1822_314-1804dup (n.314-1822_314-1804dup) c.541_559dup (p.Glu187ValfsTer6) c.314-995_314-977dup (n.314-995_314-977dup) c.264_282dup n.814_832dup n.781_799dup | |
19 | g.11105571G>A | CA023742 | LDLR | c.923G>A (p.Cys308Tyr) c.665G>A (p.Cys222Tyr) c.919G>A c.314-1821G>A (n.314-1821G>A) c.542G>A (p.Cys181Tyr) c.314-994G>A (n.314-994G>A) c.265G>A n.815G>A n.782G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105571G>C | CA404078352 | LDLR | c.923G>C (p.Cys308Ser) c.665G>C (p.Cys222Ser) c.919G>C c.314-1821G>C (n.314-1821G>C) c.542G>C (p.Cys181Ser) c.314-994G>C (n.314-994G>C) c.265G>C n.815G>C n.782G>C | |
19 | g.11105571G= | CA2322767600 | LDLR | c.923G= (p.Cys308=) c.665G= (p.Cys222=) c.919G= c.314-1821G= (n.314-1821G=) c.542G= (p.Cys181=) c.314-994G= (n.314-994G=) c.265G= n.815G= n.782G= | |
19 | g.11105571G>T | CA10585053 | LDLR | c.923G>T (p.Cys308Phe) c.665G>T (p.Cys222Phe) c.919G>T c.314-1821G>T (n.314-1821G>T) c.542G>T (p.Cys181Phe) c.314-994G>T (n.314-994G>T) c.265G>T n.815G>T n.782G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105571_11105579dup | CA2573155713 | LDLR | c.923_931dup (p.Asp310_Lys311insSerLysAsp) c.665_673dup (p.Asp224_Lys225insSerLysAsp) c.919_927dup c.314-1821_314-1813dup (n.314-1821_314-1813dup) c.542_550dup (p.Asp183_Lys184insSerLysAsp) c.314-994_314-986dup (n.314-994_314-986dup) c.265_273dup n.815_823dup n.782_790dup | ClinVar dbSNP |
19 | g.11105571_11105585dup | CA2580096479 | LDLR | c.923_937dup (p.Ser312_Asp313insGlyLysAspLysSer) c.665_679dup (p.Ser226_Asp227insGlyLysAspLysSer) c.919_933dup c.314-1821_314-1807dup (n.314-1821_314-1807dup) c.542_556dup (p.Ser185_Asp186insGlyLysAspLysSer) c.314-994_314-980dup (n.314-994_314-980dup) c.265_279dup n.815_829dup n.782_796dup | ClinVar |
19 | g.11105572_11105588dup | CA16602306 | LDLR | c.924_940dup (p.Glu314AlafsTer?) c.666_682dup (p.Glu228AlafsTer?) c.920_936dup c.314-1820_314-1804dup (n.314-1820_314-1804dup) c.543_559dup (p.Glu187AlafsTer?) c.314-993_314-977dup (n.314-993_314-977dup) c.266_282dup n.816_832dup n.783_799dup | ClinVar dbSNP |
19 | g.11105571_11105593delinsGCAAGGACAAATCTGACGAGGAA | CA2322767601 | LDLR | c.923_945delinsGCAAGGACAAATCTGACGAGGAA (p.Cys308=) c.665_687delinsGCAAGGACAAATCTGACGAGGAA (p.Cys222=) c.919_941delinsGCAAGGACAAATCTGACGAGGAA c.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA (n.314-1821_314-1799delinsGCAAGGACAAATCTGACGAGGAA) c.542_564delinsGCAAGGACAAATCTGACGAGGAA (p.Cys181=) c.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA (n.314-994_314-972delinsGCAAGGACAAATCTGACGAGGAA) c.265_287delinsGCAAGGACAAATCTGACGAGGAA n.815_837delinsGCAAGGACAAATCTGACGAGGAA n.782_804delinsGCAAGGACAAATCTGACGAGGAA | |
19 | g.11105571_11105594delinsGCAAGGACAAATCTGACGAGGAAA | CA2322767602 | LDLR | c.923_946delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys308=) c.665_688delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys222=) c.919_942delinsGCAAGGACAAATCTGACGAGGAAA c.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA (n.314-1821_314-1798delinsGCAAGGACAAATCTGACGAGGAAA) c.542_565delinsGCAAGGACAAATCTGACGAGGAAA (p.Cys181=) c.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA (n.314-994_314-971delinsGCAAGGACAAATCTGACGAGGAAA) c.265_288delinsGCAAGGACAAATCTGACGAGGAAA n.815_838delinsGCAAGGACAAATCTGACGAGGAAA n.782_805delinsGCAAGGACAAATCTGACGAGGAAA | |
19 | g.11105572del | CA2497030125 | LDLR | c.924del (p.Cys308Ter) c.666del (p.Cys222Ter) c.920del c.314-1820del (n.314-1820del) c.543del (p.Cys181Ter) c.314-993del (n.314-993del) c.266del n.816del n.783del | |
19 | g.11105572C>A | CA044280 | LDLR | c.924C>A (p.Cys308Ter) c.666C>A (p.Cys222Ter) c.920C>A c.314-1820C>A (n.314-1820C>A) c.543C>A (p.Cys181Ter) c.314-993C>A (n.314-993C>A) c.266C>A n.816C>A n.783C>A | ClinVar dbSNP ExAC gnomAD v2 |
19 | g.11105572C= | CA2322767603 | LDLR | c.924C= (p.Cys308=) c.666C= (p.Cys222=) c.920C= c.314-1820C= (n.314-1820C=) c.543C= (p.Cys181=) c.314-993C= (n.314-993C=) c.266C= n.816C= n.783C= | |
19 | g.11105572C>G | CA10585054 | LDLR | c.924C>G (p.Cys308Trp) c.666C>G (p.Cys222Trp) c.920C>G c.314-1820C>G (n.314-1820C>G) c.543C>G (p.Cys181Trp) c.314-993C>G (n.314-993C>G) c.266C>G n.816C>G n.783C>G | ClinVar dbSNP |
19 | g.11105572C>T | CA505743509 | LDLR | c.924C>T (p.Cys308=) c.666C>T (p.Cys222=) c.920C>T c.314-1820C>T (n.314-1820C>T) c.543C>T (p.Cys181=) c.314-993C>T (n.314-993C>T) c.266C>T n.816C>T n.783C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105573_11105583del | CA2580096482 | LDLR | c.925_935del (p.Lys309Ter) c.667_677del (p.Lys223Ter) c.921_931del c.314-1819_314-1809del (n.314-1819_314-1809del) c.544_554del (p.Lys182Ter) c.314-992_314-982del (n.314-992_314-982del) c.267_277del n.817_827del n.784_794del | ClinVar |
19 | g.11105573_11105587dup | CA2573130223 | LDLR | c.925_939dup (p.Asp313_Glu314insLysAspLysSerAsp) c.667_681dup (p.Asp227_Glu228insLysAspLysSerAsp) c.921_935dup c.314-1819_314-1805dup (n.314-1819_314-1805dup) c.544_558dup (p.Asp186_Glu187insLysAspLysSerAsp) c.314-992_314-978dup (n.314-992_314-978dup) c.267_281dup n.817_831dup n.784_798dup | |
19 | g.11105573_11105587del | CA2573054702 | LDLR | c.925_939del (p.Lys309_Asp313del) c.667_681del (p.Lys223_Asp227del) c.921_935del c.314-1819_314-1805del (n.314-1819_314-1805del) c.544_558del (p.Lys182_Asp186del) c.314-992_314-978del (n.314-992_314-978del) c.267_281del n.817_831del n.784_798del | ClinVar dbSNP |
19 | g.11105572_11105593del | CA10585055 | LDLR | c.924_945del (p.Cys308Ter) c.666_687del (p.Cys222Ter) c.920_941del c.314-1820_314-1799del (n.314-1820_314-1799del) c.543_564del (p.Cys181Ter) c.314-993_314-972del (n.314-993_314-972del) c.266_287del n.816_837del n.783_804del | ClinVar dbSNP |
19 | g.11105572_11105594del | CA645373228 | LDLR | c.924_946del (p.Cys308Ter) c.666_688del (p.Cys222Ter) c.920_942del c.314-1820_314-1798del (n.314-1820_314-1798del) c.543_565del (p.Cys181Ter) c.314-993_314-971del (n.314-993_314-971del) c.266_288del n.816_838del n.783_805del | ClinVar dbSNP |
19 | g.11105573A= | CA2322767604 | LDLR | c.925A= (p.Lys309=) c.667A= (p.Lys223=) c.921A= c.314-1819A= (n.314-1819A=) c.544A= (p.Lys182=) c.314-992A= (n.314-992A=) c.267A= n.817A= n.784A= | |
19 | g.11105573A>C | CA404078362 | LDLR | c.925A>C (p.Lys309Gln) c.667A>C (p.Lys223Gln) c.921A>C c.314-1819A>C (n.314-1819A>C) c.544A>C (p.Lys182Gln) c.314-992A>C (n.314-992A>C) c.267A>C n.817A>C n.784A>C | |
19 | g.11105573A>G | CA404078358 | LDLR | c.925A>G (p.Lys309Glu) c.667A>G (p.Lys223Glu) c.921A>G c.314-1819A>G (n.314-1819A>G) c.544A>G (p.Lys182Glu) c.314-992A>G (n.314-992A>G) c.267A>G n.817A>G n.784A>G | gnomAD v4 |
19 | g.11105573A>T | CA404078360 | LDLR | c.925A>T (p.Lys309Ter) c.667A>T (p.Lys223Ter) c.921A>T c.314-1819A>T (n.314-1819A>T) c.544A>T (p.Lys182Ter) c.314-992A>T (n.314-992A>T) c.267A>T n.817A>T n.784A>T | |
19 | g.11105573_11105586dup | CA2573050581 | LDLR | c.925_938dup (p.Asp313GlufsTer?) c.667_680dup (p.Asp227GlufsTer?) c.921_934dup c.314-1819_314-1806dup (n.314-1819_314-1806dup) c.544_557dup (p.Asp186GlufsTer?) c.314-992_314-979dup (n.314-992_314-979dup) c.267_280dup n.817_830dup n.784_797dup | |
19 | g.11105573_11105588delinsAAGGACAAATCTGACG | CA2322767605 | LDLR | c.925_940delinsAAGGACAAATCTGACG (p.Lys309=) c.667_682delinsAAGGACAAATCTGACG (p.Lys223=) c.921_936delinsAAGGACAAATCTGACG c.314-1819_314-1804delinsAAGGACAAATCTGACG (n.314-1819_314-1804delinsAAGGACAAATCTGACG) c.544_559delinsAAGGACAAATCTGACG (p.Lys182=) c.314-992_314-977delinsAAGGACAAATCTGACG (n.314-992_314-977delinsAAGGACAAATCTGACG) c.267_282delinsAAGGACAAATCTGACG n.817_832delinsAAGGACAAATCTGACG n.784_799delinsAAGGACAAATCTGACG | |
19 | g.11105574A= | CA2322767606 | LDLR | c.926A= (p.Lys309=) c.668A= (p.Lys223=) c.922A= c.314-1818A= (n.314-1818A=) c.545A= (p.Lys182=) c.314-991A= (n.314-991A=) c.268A= n.818A= n.785A= | |
19 | g.11105574A>C | CA404078367 | LDLR | c.926A>C (p.Lys309Thr) c.668A>C (p.Lys223Thr) c.922A>C c.314-1818A>C (n.314-1818A>C) c.545A>C (p.Lys182Thr) c.314-991A>C (n.314-991A>C) c.268A>C n.818A>C n.785A>C | |
19 | g.11105574A>G | CA404078365 | LDLR | c.926A>G (p.Lys309Arg) c.668A>G (p.Lys223Arg) c.922A>G c.314-1818A>G (n.314-1818A>G) c.545A>G (p.Lys182Arg) c.314-991A>G (n.314-991A>G) c.268A>G n.818A>G n.785A>G | |
19 | g.11105574A>T | CA404078370 | LDLR | c.926A>T (p.Lys309Met) c.668A>T (p.Lys223Met) c.922A>T c.314-1818A>T (n.314-1818A>T) c.545A>T (p.Lys182Met) c.314-991A>T (n.314-991A>T) c.268A>T n.818A>T n.785A>T | |
19 | g.11105574_11105582delinsAGGACAAAT | CA2322767608 | LDLR | c.926_934delinsAGGACAAAT (p.Lys309=) c.668_676delinsAGGACAAAT (p.Lys223=) c.922_930delinsAGGACAAAT c.314-1818_314-1810delinsAGGACAAAT (n.314-1818_314-1810delinsAGGACAAAT) c.545_553delinsAGGACAAAT (p.Lys182=) c.314-991_314-983delinsAGGACAAAT (n.314-991_314-983delinsAGGACAAAT) c.268_276delinsAGGACAAAT n.818_826delinsAGGACAAAT n.785_793delinsAGGACAAAT | |
19 | g.11105575_11105586dup | CA10585060 | LDLR | c.927_938dup (p.Ser312_Asp313insGluAspLysSer) c.669_680dup (p.Ser226_Asp227insGluAspLysSer) c.923_934dup c.314-1817_314-1806dup (n.314-1817_314-1806dup) c.546_557dup (p.Ser185_Asp186insGluAspLysSer) c.314-990_314-979dup (n.314-990_314-979dup) c.269_280dup n.819_830dup n.786_797dup | ClinVar dbSNP |
19 | g.11105574_11105587dup | CA10585057 | LDLR | c.926_939dup (p.Glu314ArgfsTer?) c.668_681dup (p.Glu228ArgfsTer?) c.922_935dup c.314-1818_314-1805dup (n.314-1818_314-1805dup) c.545_558dup (p.Glu187ArgfsTer?) c.314-991_314-978dup (n.314-991_314-978dup) c.268_281dup n.818_831dup n.785_798dup | ClinVar dbSNP |
19 | g.11105574_11105589delinsAGGACAAATCTGACGA | CA2322767607 | LDLR | c.926_941delinsAGGACAAATCTGACGA (p.Lys309=) c.668_683delinsAGGACAAATCTGACGA (p.Lys223=) c.922_937delinsAGGACAAATCTGACGA c.314-1818_314-1803delinsAGGACAAATCTGACGA (n.314-1818_314-1803delinsAGGACAAATCTGACGA) c.545_560delinsAGGACAAATCTGACGA (p.Lys182=) c.314-991_314-976delinsAGGACAAATCTGACGA (n.314-991_314-976delinsAGGACAAATCTGACGA) c.268_283delinsAGGACAAATCTGACGA n.818_833delinsAGGACAAATCTGACGA n.785_800delinsAGGACAAATCTGACGA | |
19 | g.11105578_11105592del | CA658653703 | LDLR | c.930_944del (p.Asp310_Glu314del) c.672_686del (p.Asp224_Glu228del) c.926_940del c.314-1814_314-1800del (n.314-1814_314-1800del) c.549_563del (p.Asp183_Glu187del) c.314-987_314-973del (n.314-987_314-973del) c.272_286del n.822_836del n.789_803del | ClinVar dbSNP |
19 | g.11105575G>A | CA505743510 | LDLR | c.927G>A (p.Lys309=) c.669G>A (p.Lys223=) c.923G>A c.314-1817G>A (n.314-1817G>A) c.546G>A (p.Lys182=) c.314-990G>A (n.314-990G>A) c.269G>A n.819G>A n.786G>A | ClinVar gnomAD v4 COSMIC |
19 | g.11105575G>C | CA10585058 | LDLR | c.927G>C (p.Lys309Asn) c.669G>C (p.Lys223Asn) c.923G>C c.314-1817G>C (n.314-1817G>C) c.546G>C (p.Lys182Asn) c.314-990G>C (n.314-990G>C) c.269G>C n.819G>C n.786G>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105575G= | CA2322767609 | LDLR | c.927G= (p.Lys309=) c.669G= (p.Lys223=) c.923G= c.314-1817G= (n.314-1817G=) c.546G= (p.Lys182=) c.314-990G= (n.314-990G=) c.269G= n.819G= n.786G= | |
19 | g.11105575G>T | CA404078373 | LDLR | c.927G>T (p.Lys309Asn) c.669G>T (p.Lys223Asn) c.923G>T c.314-1817G>T (n.314-1817G>T) c.546G>T (p.Lys182Asn) c.314-990G>T (n.314-990G>T) c.269G>T n.819G>T n.786G>T | |
19 | g.11105576dup | CA10585062 | LDLR | c.928dup (p.Asp310GlyfsTer4) c.670dup (p.Asp224GlyfsTer4) c.924dup c.314-1816dup (n.314-1816dup) c.547dup (p.Asp183GlyfsTer4) c.314-989dup (n.314-989dup) c.270dup n.820dup n.787dup | ClinVar dbSNP |
19 | g.11105575_11105581delinsGGACAAA | CA2322767610 | LDLR | c.927_933delinsGGACAAA (p.Lys309=) c.669_675delinsGGACAAA (p.Lys223=) c.923_929delinsGGACAAA c.314-1817_314-1811delinsGGACAAA (n.314-1817_314-1811delinsGGACAAA) c.546_552delinsGGACAAA (p.Lys182=) c.314-990_314-984delinsGGACAAA (n.314-990_314-984delinsGGACAAA) c.269_275delinsGGACAAA n.819_825delinsGGACAAA n.786_792delinsGGACAAA | |
19 | g.11105575_11105582del | CA645509264 | LDLR | c.927_934del (p.Lys309AsnfsTer2) c.669_676del (p.Lys223AsnfsTer2) c.923_930del c.314-1817_314-1810del (n.314-1817_314-1810del) c.546_553del (p.Lys182AsnfsTer2) c.314-990_314-983del (n.314-990_314-983del) c.269_276del n.819_826del n.786_793del | ClinVar dbSNP |
19 | g.11105576_11105585dup | CA2573130224 | LDLR | c.928_937dup (p.Asp313GlyfsTer4) c.670_679dup (p.Asp227GlyfsTer4) c.924_933dup c.314-1816_314-1807dup (n.314-1816_314-1807dup) c.547_556dup (p.Asp186GlyfsTer4) c.314-989_314-980dup (n.314-989_314-980dup) c.270_279dup n.820_829dup n.787_796dup | |
19 | g.11105575_11105585dup | CA10585059 | LDLR | c.927_937dup (p.Asp313GlyfsTer?) c.669_679dup (p.Asp227GlyfsTer?) c.923_933dup c.314-1817_314-1807dup (n.314-1817_314-1807dup) c.546_556dup (p.Asp186GlyfsTer?) c.314-990_314-980dup (n.314-990_314-980dup) c.269_279dup n.819_829dup n.786_796dup | ClinVar dbSNP |
19 | g.11105576_11105588dup | CA2695223210 | LDLR | c.928_940dup (p.Glu314GlyfsTer4) c.670_682dup (p.Glu228GlyfsTer4) c.924_936dup c.314-1816_314-1804dup (n.314-1816_314-1804dup) c.547_559dup (p.Glu187GlyfsTer4) c.314-989_314-977dup (n.314-989_314-977dup) c.270_282dup n.820_832dup n.787_799dup | |
19 | g.11105575_11105589delinsAACTGCGGTAAACTGCGGTAAACT | CA645373229 | LDLR | c.927_941delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp310_Glu314delinsThrAlaValAsnCysGlyLysLeu) c.669_683delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp224_Glu228delinsThrAlaValAsnCysGlyLysLeu) c.923_937delinsAACTGCGGTAAACTGCGGTAAACT c.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT (n.314-1817_314-1803delinsAACTGCGGTAAACTGCGGTAAACT) c.546_560delinsAACTGCGGTAAACTGCGGTAAACT (p.Asp183_Glu187delinsThrAlaValAsnCysGlyLysLeu) c.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT (n.314-990_314-976delinsAACTGCGGTAAACTGCGGTAAACT) c.269_283delinsAACTGCGGTAAACTGCGGTAAACT n.819_833delinsAACTGCGGTAAACTGCGGTAAACT n.786_800delinsAACTGCGGTAAACTGCGGTAAACT | ClinVar dbSNP |
19 | g.11105576G>A | CA023744 | LDLR | c.928G>A (p.Asp310Asn) c.670G>A (p.Asp224Asn) c.924G>A c.314-1816G>A (n.314-1816G>A) c.547G>A (p.Asp183Asn) c.314-989G>A (n.314-989G>A) c.270G>A n.820G>A n.787G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105576G>C | CA404078381 | LDLR | c.928G>C (p.Asp310His) c.670G>C (p.Asp224His) c.924G>C c.314-1816G>C (n.314-1816G>C) c.547G>C (p.Asp183His) c.314-989G>C (n.314-989G>C) c.270G>C n.820G>C n.787G>C | ClinVar |
19 | g.11105576G= | CA2322767611 | LDLR | c.928G= (p.Asp310=) c.670G= (p.Asp224=) c.924G= c.314-1816G= (n.314-1816G=) c.547G= (p.Asp183=) c.314-989G= (n.314-989G=) c.270G= n.820G= n.787G= | |
19 | g.11105576G>T | CA404078382 | LDLR | c.928G>T (p.Asp310Tyr) c.670G>T (p.Asp224Tyr) c.924G>T c.314-1816G>T (n.314-1816G>T) c.547G>T (p.Asp183Tyr) c.314-989G>T (n.314-989G>T) c.270G>T n.820G>T n.787G>T | gnomAD v4 |
19 | g.11105576_11105578del | CA2580096489 | LDLR | c.928_930del (p.Asp310del) c.670_672del (p.Asp224del) c.924_926del c.314-1816_314-1814del (n.314-1816_314-1814del) c.547_549del (p.Asp183del) c.314-989_314-987del (n.314-989_314-987del) c.270_272del n.820_822del n.787_789del | ClinVar |
19 | g.11105576_11105581delinsTTT | CA10585061 | LDLR | c.928_933delinsTTT (p.Asp310_Lys311delinsPhe) c.670_675delinsTTT (p.Asp224_Lys225delinsPhe) c.924_929delinsTTT c.314-1816_314-1811delinsTTT (n.314-1816_314-1811delinsTTT) c.547_552delinsTTT (p.Asp183_Lys184delinsPhe) c.314-989_314-984delinsTTT (n.314-989_314-984delinsTTT) c.270_275delinsTTT n.820_825delinsTTT n.787_792delinsTTT | ClinVar dbSNP |
19 | g.11105576_11105581delinsGACAAA | CA2322767612 | LDLR | c.928_933delinsGACAAA (p.Asp310=) c.670_675delinsGACAAA (p.Asp224=) c.924_929delinsGACAAA c.314-1816_314-1811delinsGACAAA (n.314-1816_314-1811delinsGACAAA) c.547_552delinsGACAAA (p.Asp183=) c.314-989_314-984delinsGACAAA (n.314-989_314-984delinsGACAAA) c.270_275delinsGACAAA n.820_825delinsGACAAA n.787_792delinsGACAAA | |
19 | g.11105576_11105581dup | CA1139666255 | LDLR | c.928_933dup (p.Lys311_Ser312insAspLys) c.670_675dup (p.Lys225_Ser226insAspLys) c.924_929dup c.314-1816_314-1811dup (n.314-1816_314-1811dup) c.547_552dup (p.Lys184_Ser185insAspLys) c.314-989_314-984dup (n.314-989_314-984dup) c.270_275dup n.820_825dup n.787_792dup | ClinVar dbSNP |
19 | g.11105579_11105587dup | CA10585067 | LDLR | c.931_939dup (p.Asp313_Glu314insLysSerAsp) c.673_681dup (p.Asp227_Glu228insLysSerAsp) c.927_935dup c.314-1813_314-1805dup (n.314-1813_314-1805dup) c.550_558dup (p.Asp186_Glu187insLysSerAsp) c.314-986_314-978dup (n.314-986_314-978dup) c.273_281dup n.823_831dup n.790_798dup | ClinVar dbSNP |
19 | g.11105578_11105589dup | CA10585066 | LDLR | c.930_941dup (p.Asp313_Glu314insAspLysSerAsp) c.672_683dup (p.Asp227_Glu228insAspLysSerAsp) c.926_937dup c.314-1814_314-1803dup (n.314-1814_314-1803dup) c.549_560dup (p.Asp186_Glu187insAspLysSerAsp) c.314-987_314-976dup (n.314-987_314-976dup) c.272_283dup n.822_833dup n.789_800dup | ClinVar dbSNP |
19 | g.11105577A= | CA2322767613 | LDLR | c.929A= (p.Asp310=) c.671A= (p.Asp224=) c.925A= c.314-1815A= (n.314-1815A=) c.548A= (p.Asp183=) c.314-988A= (n.314-988A=) c.271A= n.821A= n.788A= | |
19 | g.11105577A>C | CA10585063 | LDLR | c.929A>C (p.Asp310Ala) c.671A>C (p.Asp224Ala) c.925A>C c.314-1815A>C (n.314-1815A>C) c.548A>C (p.Asp183Ala) c.314-988A>C (n.314-988A>C) c.271A>C n.821A>C n.788A>C | ClinVar dbSNP COSMIC |
19 | g.11105577A>G | CA10585064 | LDLR | c.929A>G (p.Asp310Gly) c.671A>G (p.Asp224Gly) c.925A>G c.314-1815A>G (n.314-1815A>G) c.548A>G (p.Asp183Gly) c.314-988A>G (n.314-988A>G) c.271A>G n.821A>G n.788A>G | ClinVar dbSNP gnomAD v4 |
19 | g.11105577A>T | CA10585065 | LDLR | c.929A>T (p.Asp310Val) c.671A>T (p.Asp224Val) c.925A>T c.314-1815A>T (n.314-1815A>T) c.548A>T (p.Asp183Val) c.314-988A>T (n.314-988A>T) c.271A>T n.821A>T n.788A>T | ClinVar dbSNP |
19 | g.11105577_11105581del | CA658653704 | LDLR | c.929_933del (p.Asp310ValfsTer2) c.671_675del (p.Asp224ValfsTer2) c.925_929del c.314-1815_314-1811del (n.314-1815_314-1811del) c.548_552del (p.Asp183ValfsTer2) c.314-988_314-984del (n.314-988_314-984del) c.271_275del n.821_825del n.788_792del | ClinVar dbSNP |
19 | g.11105578C>A | CA16602307 | LDLR | c.930C>A (p.Asp310Glu) c.672C>A (p.Asp224Glu) c.926C>A c.314-1814C>A (n.314-1814C>A) c.549C>A (p.Asp183Glu) c.314-987C>A (n.314-987C>A) c.272C>A n.822C>A n.789C>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105578C= | CA2322767614 | LDLR | c.930C= (p.Asp310=) c.672C= (p.Asp224=) c.926C= c.314-1814C= (n.314-1814C=) c.549C= (p.Asp183=) c.314-987C= (n.314-987C=) c.272C= n.822C= n.789C= | |
19 | g.11105578C>G | CA404078393 | LDLR | c.930C>G (p.Asp310Glu) c.672C>G (p.Asp224Glu) c.926C>G c.314-1814C>G (n.314-1814C>G) c.549C>G (p.Asp183Glu) c.314-987C>G (n.314-987C>G) c.272C>G n.822C>G n.789C>G | ClinVar dbSNP |
19 | g.11105578C>T | CA505743511 | LDLR | c.930C>T (p.Asp310=) c.672C>T (p.Asp224=) c.926C>T c.314-1814C>T (n.314-1814C>T) c.549C>T (p.Asp183=) c.314-987C>T (n.314-987C>T) c.272C>T n.822C>T n.789C>T | |
19 | g.11105578_11105579delinsCA | CA2322767617 | LDLR | c.930_931delinsCA (p.Asp310=) c.672_673delinsCA (p.Asp224=) c.926_927delinsCA c.314-1814_314-1813delinsCA (n.314-1814_314-1813delinsCA) c.549_550delinsCA (p.Asp183=) c.314-987_314-986delinsCA (n.314-987_314-986delinsCA) c.272_273delinsCA n.822_823delinsCA n.789_790delinsCA | |
19 | g.11105578_11105587dup | CA2573331836 | LDLR | c.930_939dup (p.Glu314GlnfsTer3) c.672_681dup (p.Glu228GlnfsTer3) c.926_935dup c.314-1814_314-1805dup (n.314-1814_314-1805dup) c.549_558dup (p.Glu187GlnfsTer3) c.314-987_314-978dup (n.314-987_314-978dup) c.272_281dup n.822_831dup n.789_798dup | gnomAD v4 |
19 | g.11105578_11105588delinsCAAATCTGACG | CA2322767615 | LDLR | c.930_940delinsCAAATCTGACG (p.Asp310=) c.672_682delinsCAAATCTGACG (p.Asp224=) c.926_936delinsCAAATCTGACG c.314-1814_314-1804delinsCAAATCTGACG (n.314-1814_314-1804delinsCAAATCTGACG) c.549_559delinsCAAATCTGACG (p.Asp183=) c.314-987_314-977delinsCAAATCTGACG (n.314-987_314-977delinsCAAATCTGACG) c.272_282delinsCAAATCTGACG n.822_832delinsCAAATCTGACG n.789_799delinsCAAATCTGACG | |
19 | g.11105578_11105593delinsCAAATCTGACGAGGAA | CA2322767616 | LDLR | c.930_945delinsCAAATCTGACGAGGAA (p.Asp310=) c.672_687delinsCAAATCTGACGAGGAA (p.Asp224=) c.926_941delinsCAAATCTGACGAGGAA c.314-1814_314-1799delinsCAAATCTGACGAGGAA (n.314-1814_314-1799delinsCAAATCTGACGAGGAA) c.549_564delinsCAAATCTGACGAGGAA (p.Asp183=) c.314-987_314-972delinsCAAATCTGACGAGGAA (n.314-987_314-972delinsCAAATCTGACGAGGAA) c.272_287delinsCAAATCTGACGAGGAA n.822_837delinsCAAATCTGACGAGGAA n.789_804delinsCAAATCTGACGAGGAA | |
19 | g.11105579A= | CA2322767618 | LDLR | c.931A= (p.Lys311=) c.673A= (p.Lys225=) c.927A= c.314-1813A= (n.314-1813A=) c.550A= (p.Lys184=) c.314-986A= (n.314-986A=) c.273A= n.823A= n.790A= | |
19 | g.11105579A>C | CA404078401 | LDLR | c.931A>C (p.Lys311Gln) c.673A>C (p.Lys225Gln) c.927A>C c.314-1813A>C (n.314-1813A>C) c.550A>C (p.Lys184Gln) c.314-986A>C (n.314-986A>C) c.273A>C n.823A>C n.790A>C | |
19 | g.11105579A>G | CA404078399 | LDLR | c.931A>G (p.Lys311Glu) c.673A>G (p.Lys225Glu) c.927A>G c.314-1813A>G (n.314-1813A>G) c.550A>G (p.Lys184Glu) c.314-986A>G (n.314-986A>G) c.273A>G n.823A>G n.790A>G | dbSNP gnomAD v4 |
19 | g.11105579A>T | CA404078398 | LDLR | c.931A>T (p.Lys311Ter) c.673A>T (p.Lys225Ter) c.927A>T c.314-1813A>T (n.314-1813A>T) c.550A>T (p.Lys184Ter) c.314-986A>T (n.314-986A>T) c.273A>T n.823A>T n.790A>T | gnomAD v4 |
19 | g.11105579_11105580insTGCAA | CA16602308 | LDLR | c.931_932insTGCAA (p.Lys311MetfsTer?) c.673_674insTGCAA (p.Lys225MetfsTer?) c.927_928insTGCAA c.314-1813_314-1812insTGCAA (n.314-1813_314-1812insTGCAA) c.550_551insTGCAA (p.Lys184MetfsTer?) c.314-986_314-985insTGCAA (n.314-986_314-985insTGCAA) c.273_274insTGCAA n.823_824insTGCAA n.790_791insTGCAA | ClinVar dbSNP |
19 | g.11105579_11105581delinsTTT | CA2580096492 | LDLR | c.931_933delinsTTT (p.Lys311Phe) c.673_675delinsTTT (p.Lys225Phe) c.927_929delinsTTT c.314-1813_314-1811delinsTTT (n.314-1813_314-1811delinsTTT) c.550_552delinsTTT (p.Lys184Phe) c.314-986_314-984delinsTTT (n.314-986_314-984delinsTTT) c.273_275delinsTTT n.823_825delinsTTT n.790_792delinsTTT | ClinVar |
19 | g.11105581del | CA10585072 | LDLR | c.933del (p.Lys311AsnfsTer?) c.675del (p.Lys225AsnfsTer?) c.929del c.314-1811del (n.314-1811del) c.552del (p.Lys184AsnfsTer?) c.314-984del (n.314-984del) c.275del n.825del n.792del | ClinVar dbSNP |
19 | g.11105579_11105588delinsTGCA | CA2695223211 | LDLR | c.931_940delinsTGCA (p.Lys311_Glu314delinsCysLys) c.673_682delinsTGCA (p.Lys225_Glu228delinsCysLys) c.927_936delinsTGCA c.314-1813_314-1804delinsTGCA (n.314-1813_314-1804delinsTGCA) c.550_559delinsTGCA (p.Lys184_Glu187delinsCysLys) c.314-986_314-977delinsTGCA (n.314-986_314-977delinsTGCA) c.273_282delinsTGCA n.823_832delinsTGCA n.790_799delinsTGCA | ClinVar |
19 | g.11105579_11105588delinsTGCAA | CA10585068 | LDLR | c.931_940delinsTGCAA (p.Lys311CysfsTer13) c.673_682delinsTGCAA (p.Lys225CysfsTer13) c.927_936delinsTGCAA c.314-1813_314-1804delinsTGCAA (n.314-1813_314-1804delinsTGCAA) c.550_559delinsTGCAA (p.Lys184CysfsTer13) c.314-986_314-977delinsTGCAA (n.314-986_314-977delinsTGCAA) c.273_282delinsTGCAA n.823_832delinsTGCAA n.790_799delinsTGCAA | ClinVar dbSNP |
19 | g.11105580_11105589del | CA16602309 | LDLR | c.932_941del (p.Lys311ArgfsTer?) c.674_683del (p.Lys225ArgfsTer?) c.928_937del c.314-1812_314-1803del (n.314-1812_314-1803del) c.551_560del (p.Lys184ArgfsTer?) c.314-985_314-976del (n.314-985_314-976del) c.274_283del n.824_833del n.791_800del | ClinVar dbSNP |
19 | g.11105581_11105595del | CA10585071 | LDLR | c.933_947del (p.Lys311_Glu315del) c.675_689del (p.Lys225_Glu229del) c.929_943del c.314-1811_314-1797del (n.314-1811_314-1797del) c.552_566del (p.Lys184_Glu188del) c.314-984_314-970del (n.314-984_314-970del) c.275_289del n.825_839del n.792_806del | ClinVar dbSNP |
19 | g.11105580A= | CA2322767619 | LDLR | c.932A= (p.Lys311=) c.674A= (p.Lys225=) c.928A= c.314-1812A= (n.314-1812A=) c.551A= (p.Lys184=) c.314-985A= (n.314-985A=) c.274A= n.824A= n.791A= | |
19 | g.11105580A>C | CA404078410 | LDLR | c.932A>C (p.Lys311Thr) c.674A>C (p.Lys225Thr) c.928A>C c.314-1812A>C (n.314-1812A>C) c.551A>C (p.Lys184Thr) c.314-985A>C (n.314-985A>C) c.274A>C n.824A>C n.791A>C | |
19 | g.11105580A>G | CA404078406 | LDLR | c.932A>G (p.Lys311Arg) c.674A>G (p.Lys225Arg) c.928A>G c.314-1812A>G (n.314-1812A>G) c.551A>G (p.Lys184Arg) c.314-985A>G (n.314-985A>G) c.274A>G n.824A>G n.791A>G | |
19 | g.11105580A>T | CA404078412 | LDLR | c.932A>T (p.Lys311Ile) c.674A>T (p.Lys225Ile) c.928A>T c.314-1812A>T (n.314-1812A>T) c.551A>T (p.Lys184Ile) c.314-985A>T (n.314-985A>T) c.274A>T n.824A>T n.791A>T | |
19 | g.11105580_11105587dup | CA10585069 | LDLR | c.932_939dup (p.Glu314AsnfsTer?) c.674_681dup (p.Glu228AsnfsTer?) c.928_935dup c.314-1812_314-1805dup (n.314-1812_314-1805dup) c.551_558dup (p.Glu187AsnfsTer?) c.314-985_314-978dup (n.314-985_314-978dup) c.274_281dup n.824_831dup n.791_798dup | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105581A= | CA2322767620 | LDLR | c.933A= (p.Lys311=) c.675A= (p.Lys225=) c.929A= c.314-1811A= (n.314-1811A=) c.552A= (p.Lys184=) c.314-984A= (n.314-984A=) c.275A= n.825A= n.792A= | |
19 | g.11105581A>C | CA404078419 | LDLR | c.933A>C (p.Lys311Asn) c.675A>C (p.Lys225Asn) c.929A>C c.314-1811A>C (n.314-1811A>C) c.552A>C (p.Lys184Asn) c.314-984A>C (n.314-984A>C) c.275A>C n.825A>C n.792A>C | |
19 | g.11105581A>G | CA505743512 | LDLR | c.933A>G (p.Lys311=) c.675A>G (p.Lys225=) c.929A>G c.314-1811A>G (n.314-1811A>G) c.552A>G (p.Lys184=) c.314-984A>G (n.314-984A>G) c.275A>G n.825A>G n.792A>G | |
19 | g.11105581A>T | CA404078415 | LDLR | c.933A>T (p.Lys311Asn) c.675A>T (p.Lys225Asn) c.929A>T c.314-1811A>T (n.314-1811A>T) c.552A>T (p.Lys184Asn) c.314-984A>T (n.314-984A>T) c.275A>T n.825A>T n.792A>T | |
19 | g.11105581_11105587dup | CA10585070 | LDLR | c.933_939dup (p.Glu314IlefsTer2) c.675_681dup (p.Glu228IlefsTer2) c.929_935dup c.314-1811_314-1805dup (n.314-1811_314-1805dup) c.552_558dup (p.Glu187IlefsTer2) c.314-984_314-978dup (n.314-984_314-978dup) c.275_281dup n.825_831dup n.792_798dup | ClinVar dbSNP |
19 | g.11105582T>A | CA404078423 | LDLR | c.934T>A (p.Ser312Thr) c.676T>A (p.Ser226Thr) c.930T>A c.314-1810T>A (n.314-1810T>A) c.553T>A (p.Ser185Thr) c.314-983T>A (n.314-983T>A) c.276T>A n.826T>A n.793T>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105582T>C | CA10585073 | LDLR | c.934T>C (p.Ser312Pro) c.676T>C (p.Ser226Pro) c.930T>C c.314-1810T>C (n.314-1810T>C) c.553T>C (p.Ser185Pro) c.314-983T>C (n.314-983T>C) c.276T>C n.826T>C n.793T>C | ClinVar dbSNP |
19 | g.11105582T>G | CA404078425 | LDLR | c.934T>G (p.Ser312Ala) c.676T>G (p.Ser226Ala) c.930T>G c.314-1810T>G (n.314-1810T>G) c.553T>G (p.Ser185Ala) c.314-983T>G (n.314-983T>G) c.276T>G n.826T>G n.793T>G | |
19 | g.11105582T= | CA2322767621 | LDLR | c.934T= (p.Ser312=) c.676T= (p.Ser226=) c.930T= c.314-1810T= (n.314-1810T=) c.553T= (p.Ser185=) c.314-983T= (n.314-983T=) c.276T= n.826T= n.793T= | |
19 | g.11105582_11105583delinsAA | CA2573155716 | LDLR | c.934_935delinsAA (p.Ser312Asn) c.676_677delinsAA (p.Ser226Asn) c.930_931delinsAA c.314-1810_314-1809delinsAA (n.314-1810_314-1809delinsAA) c.553_554delinsAA (p.Ser185Asn) c.314-983_314-982delinsAA (n.314-983_314-982delinsAA) c.276_277delinsAA n.826_827delinsAA n.793_794delinsAA | ClinVar dbSNP |
19 | g.11105582_11105586delinsGT | CA2497030127 | LDLR | c.934_938delinsGT (p.Ser312_Asp313delinsVal) c.676_680delinsGT (p.Ser226_Asp227delinsVal) c.930_934delinsGT c.314-1810_314-1806delinsGT (n.314-1810_314-1806delinsGT) c.553_557delinsGT (p.Ser185_Asp186delinsVal) c.314-983_314-979delinsGT (n.314-983_314-979delinsGT) c.276_280delinsGT n.826_830delinsGT n.793_797delinsGT | |
19 | g.11105582_11105590dup | CA10585074 | LDLR | c.934_942dup (p.Glu314_Glu315insSerAspGlu) c.676_684dup (p.Glu228_Glu229insSerAspGlu) c.930_938dup c.314-1810_314-1802dup (n.314-1810_314-1802dup) c.553_561dup (p.Glu187_Glu188insSerAspGlu) c.314-983_314-975dup (n.314-983_314-975dup) c.276_284dup n.826_834dup n.793_801dup | ClinVar dbSNP |
19 | g.11105582_11105595delinsTCTGACGAGGAAAA | CA2322767622 | LDLR | c.934_947delinsTCTGACGAGGAAAA (p.Ser312=) c.676_689delinsTCTGACGAGGAAAA (p.Ser226=) c.930_943delinsTCTGACGAGGAAAA c.314-1810_314-1797delinsTCTGACGAGGAAAA (n.314-1810_314-1797delinsTCTGACGAGGAAAA) c.553_566delinsTCTGACGAGGAAAA (p.Ser185=) c.314-983_314-970delinsTCTGACGAGGAAAA (n.314-983_314-970delinsTCTGACGAGGAAAA) c.276_289delinsTCTGACGAGGAAAA n.826_839delinsTCTGACGAGGAAAA n.793_806delinsTCTGACGAGGAAAA | |
19 | g.11105583C>A | CA305296962 | LDLR | c.935C>A (p.Ser312Tyr) c.677C>A (p.Ser226Tyr) c.931C>A c.314-1809C>A (n.314-1809C>A) c.554C>A (p.Ser185Tyr) c.314-982C>A (n.314-982C>A) c.277C>A n.827C>A n.794C>A | dbSNP |
19 | g.11105583C= | CA2322767623 | LDLR | c.935C= (p.Ser312=) c.677C= (p.Ser226=) c.931C= c.314-1809C= (n.314-1809C=) c.554C= (p.Ser185=) c.314-982C= (n.314-982C=) c.277C= n.827C= n.794C= | |
19 | g.11105583C>G | CA10585075 | LDLR | c.935C>G (p.Ser312Cys) c.677C>G (p.Ser226Cys) c.931C>G c.314-1809C>G (n.314-1809C>G) c.554C>G (p.Ser185Cys) c.314-982C>G (n.314-982C>G) c.277C>G n.827C>G n.794C>G | ClinVar dbSNP |
19 | g.11105583C>T | CA404078427 | LDLR | c.935C>T (p.Ser312Phe) c.677C>T (p.Ser226Phe) c.931C>T c.314-1809C>T (n.314-1809C>T) c.554C>T (p.Ser185Phe) c.314-982C>T (n.314-982C>T) c.277C>T n.827C>T n.794C>T | ClinVar gnomAD v4 |
19 | g.11105584_11105587dup | CA2499225313 | LDLR | c.936_939dup (p.Glu314Ter) c.678_681dup (p.Glu228Ter) c.932_935dup c.314-1808_314-1805dup (n.314-1808_314-1805dup) c.555_558dup (p.Glu187Ter) c.314-981_314-978dup (n.314-981_314-978dup) c.278_281dup n.828_831dup n.795_798dup | ClinVar dbSNP |
19 | g.11105583_11105587dup | CA913188996 | LDLR | c.935_939dup (p.Glu314LeufsTer?) c.677_681dup (p.Glu228LeufsTer?) c.931_935dup c.314-1809_314-1805dup (n.314-1809_314-1805dup) c.554_558dup (p.Glu187LeufsTer?) c.314-982_314-978dup (n.314-982_314-978dup) c.277_281dup n.827_831dup n.794_798dup | ClinVar dbSNP |
19 | g.11105586_11105598del | CA16602310 | LDLR | c.938_950del (p.Asp313AlafsTer?) c.680_692del (p.Asp227AlafsTer?) c.934_946del c.314-1806_314-1794del (n.314-1806_314-1794del) c.557_569del (p.Asp186AlafsTer?) c.314-979_314-967del (n.314-979_314-967del) c.280_292del n.830_842del n.797_809del | ClinVar dbSNP |
19 | g.11105584del | CA2580096497 | LDLR | c.936del (p.Asp313ThrfsTer?) c.678del (p.Asp227ThrfsTer?) c.932del c.314-1808del (n.314-1808del) c.555del (p.Asp186ThrfsTer?) c.314-981del (n.314-981del) c.278del n.828del n.795del | ClinVar |
19 | g.11105584T>A | CA505743514 | LDLR | c.936T>A (p.Ser312=) c.678T>A (p.Ser226=) c.932T>A c.314-1808T>A (n.314-1808T>A) c.555T>A (p.Ser185=) c.314-981T>A (n.314-981T>A) c.278T>A n.828T>A n.795T>A | |
19 | g.11105584T>C | CA044291 | LDLR | c.936T>C (p.Ser312=) c.678T>C (p.Ser226=) c.932T>C c.314-1808T>C (n.314-1808T>C) c.555T>C (p.Ser185=) c.314-981T>C (n.314-981T>C) c.278T>C n.828T>C n.795T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105584T>G | CA505743513 | LDLR | c.936T>G (p.Ser312=) c.678T>G (p.Ser226=) c.932T>G c.314-1808T>G (n.314-1808T>G) c.555T>G (p.Ser185=) c.314-981T>G (n.314-981T>G) c.278T>G n.828T>G n.795T>G | gnomAD v4 |
19 | g.11105584T= | CA2322767625 | LDLR | c.936T= (p.Ser312=) c.678T= (p.Ser226=) c.932T= c.314-1808T= (n.314-1808T=) c.555T= (p.Ser185=) c.314-981T= (n.314-981T=) c.278T= n.828T= n.795T= | |
19 | g.11105584_11105587delinsTGAC | CA2322767624 | LDLR | c.936_939delinsTGAC (p.Ser312=) c.678_681delinsTGAC (p.Ser226=) c.932_935delinsTGAC c.314-1808_314-1805delinsTGAC (n.314-1808_314-1805delinsTGAC) c.555_558delinsTGAC (p.Ser185=) c.314-981_314-978delinsTGAC (n.314-981_314-978delinsTGAC) c.278_281delinsTGAC n.828_831delinsTGAC n.795_798delinsTGAC | |
19 | g.11105585G>A | CA404079075 | LDLR | c.937G>A (p.Asp313Asn) c.679G>A (p.Asp227Asn) c.933G>A c.314-1807G>A (n.314-1807G>A) c.556G>A (p.Asp186Asn) c.314-980G>A (n.314-980G>A) c.279G>A n.829G>A n.796G>A | ClinVar dbSNP |
19 | g.11105585G>C | CA404079073 | LDLR | c.937G>C (p.Asp313His) c.679G>C (p.Asp227His) c.933G>C c.314-1807G>C (n.314-1807G>C) c.556G>C (p.Asp186His) c.314-980G>C (n.314-980G>C) c.279G>C n.829G>C n.796G>C | ClinVar dbSNP |
19 | g.11105585G= | CA2322767628 | LDLR | c.937G= (p.Asp313=) c.679G= (p.Asp227=) c.933G= c.314-1807G= (n.314-1807G=) c.556G= (p.Asp186=) c.314-980G= (n.314-980G=) c.279G= n.829G= n.796G= | |
19 | g.11105585G>T | CA404079074 | LDLR | c.937G>T (p.Asp313Tyr) c.679G>T (p.Asp227Tyr) c.933G>T c.314-1807G>T (n.314-1807G>T) c.556G>T (p.Asp186Tyr) c.314-980G>T (n.314-980G>T) c.279G>T n.829G>T n.796G>T | |
19 | g.11105585_11105587delinsGAC | CA2322767626 | LDLR | c.937_939delinsGAC (p.Asp313=) c.679_681delinsGAC (p.Asp227=) c.933_935delinsGAC c.314-1807_314-1805delinsGAC (n.314-1807_314-1805delinsGAC) c.556_558delinsGAC (p.Asp186=) c.314-980_314-978delinsGAC (n.314-980_314-978delinsGAC) c.279_281delinsGAC n.829_831delinsGAC n.796_798delinsGAC | |
19 | g.11105585_11105587delinsACGGTATGGACTGCA | CA2573050582 | LDLR | c.937_939delinsACGGTATGGACTGCA (p.Asp313delinsThrValTrpThrAla) c.679_681delinsACGGTATGGACTGCA (p.Asp227delinsThrValTrpThrAla) c.933_935delinsACGGTATGGACTGCA c.314-1807_314-1805delinsACGGTATGGACTGCA (n.314-1807_314-1805delinsACGGTATGGACTGCA) c.556_558delinsACGGTATGGACTGCA (p.Asp186delinsThrValTrpThrAla) c.314-980_314-978delinsACGGTATGGACTGCA (n.314-980_314-978delinsACGGTATGGACTGCA) c.279_281delinsACGGTATGGACTGCA n.829_831delinsACGGTATGGACTGCA n.796_798delinsACGGTATGGACTGCA | |
19 | g.11105585_11105588delinsGACG | CA2322767627 | LDLR | c.937_940delinsGACG (p.Asp313=) c.679_682delinsGACG (p.Asp227=) c.933_936delinsGACG c.314-1807_314-1804delinsGACG (n.314-1807_314-1804delinsGACG) c.556_559delinsGACG (p.Asp186=) c.314-980_314-977delinsGACG (n.314-980_314-977delinsGACG) c.279_282delinsGACG n.829_832delinsGACG n.796_799delinsGACG | |
19 | g.11105585_11105588delinsACGGTATGGACTGCA | CA2695223212 | LDLR | c.937_940delinsACGGTATGGACTGCA (p.Asp313ThrfsTer?) c.679_682delinsACGGTATGGACTGCA (p.Asp227ThrfsTer?) c.933_936delinsACGGTATGGACTGCA c.314-1807_314-1804delinsACGGTATGGACTGCA (n.314-1807_314-1804delinsACGGTATGGACTGCA) c.556_559delinsACGGTATGGACTGCA (p.Asp186ThrfsTer?) c.314-980_314-977delinsACGGTATGGACTGCA (n.314-980_314-977delinsACGGTATGGACTGCA) c.279_282delinsACGGTATGGACTGCA n.829_832delinsACGGTATGGACTGCA n.796_799delinsACGGTATGGACTGCA | |
19 | g.11105587_11105589del | CA10585078 | LDLR | c.939_941del (p.Asp313del) c.681_683del (p.Asp227del) c.935_937del c.314-1805_314-1803del (n.314-1805_314-1803del) c.558_560del (p.Asp186del) c.314-978_314-976del (n.314-978_314-976del) c.281_283del n.831_833del n.798_800del | ClinVar dbSNP gnomAD v4 |
19 | g.11105585_11105586insCGGTATGGACT | CA2497030128 | LDLR | c.937_938insCGGTATGGACT (p.Asp313AlafsTer?) c.679_680insCGGTATGGACT (p.Asp227AlafsTer?) c.933_934insCGGTATGGACT c.314-1807_314-1806insCGGTATGGACT (n.314-1807_314-1806insCGGTATGGACT) c.556_557insCGGTATGGACT (p.Asp186AlafsTer?) c.314-980_314-979insCGGTATGGACT (n.314-980_314-979insCGGTATGGACT) c.279_280insCGGTATGGACT n.829_830insCGGTATGGACT n.796_797insCGGTATGGACT | |
19 | g.11105586del | CA2497030129 | LDLR | c.938del (p.Asp313AlafsTer?) c.680del (p.Asp227AlafsTer?) c.934del c.314-1806del (n.314-1806del) c.557del (p.Asp186AlafsTer?) c.314-979del (n.314-979del) c.280del n.830del n.797del | |
19 | g.11105586A= | CA2322767629 | LDLR | c.938A= (p.Asp313=) c.680A= (p.Asp227=) c.934A= c.314-1806A= (n.314-1806A=) c.557A= (p.Asp186=) c.314-979A= (n.314-979A=) c.280A= n.830A= n.797A= | |
19 | g.11105586A>C | CA404079077 | LDLR | c.938A>C (p.Asp313Ala) c.680A>C (p.Asp227Ala) c.934A>C c.314-1806A>C (n.314-1806A>C) c.557A>C (p.Asp186Ala) c.314-979A>C (n.314-979A>C) c.280A>C n.830A>C n.797A>C | gnomAD v4 |
19 | g.11105586A>G | CA404079076 | LDLR | c.938A>G (p.Asp313Gly) c.680A>G (p.Asp227Gly) c.934A>G c.314-1806A>G (n.314-1806A>G) c.557A>G (p.Asp186Gly) c.314-979A>G (n.314-979A>G) c.280A>G n.830A>G n.797A>G | ClinVar |
19 | g.11105586A>T | CA10585076 | LDLR | c.938A>T (p.Asp313Val) c.680A>T (p.Asp227Val) c.934A>T c.314-1806A>T (n.314-1806A>T) c.557A>T (p.Asp186Val) c.314-979A>T (n.314-979A>T) c.280A>T n.830A>T n.797A>T | ClinVar dbSNP |
19 | g.11105586_11105587del | CA023745 | LDLR | c.938_939del (p.Asp313GlyfsTer12) c.680_681del (p.Asp227GlyfsTer12) c.934_935del c.314-1806_314-1805del (n.314-1806_314-1805del) c.557_558del (p.Asp186GlyfsTer12) c.314-979_314-978del (n.314-979_314-978del) c.280_281del n.830_831del n.797_798del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105586_11105587delinsAC | CA2322767631 | LDLR | c.938_939delinsAC (p.Asp313=) c.680_681delinsAC (p.Asp227=) c.934_935delinsAC c.314-1806_314-1805delinsAC (n.314-1806_314-1805delinsAC) c.557_558delinsAC (p.Asp186=) c.314-979_314-978delinsAC (n.314-979_314-978delinsAC) c.280_281delinsAC n.830_831delinsAC n.797_798delinsAC | |
19 | g.11105586_11105588delinsCA | CA645372639 | LDLR | c.938_940delinsCA (p.Asp313AlafsTer?) c.680_682delinsCA (p.Asp227AlafsTer?) c.934_936delinsCA c.314-1806_314-1804delinsCA (n.314-1806_314-1804delinsCA) c.557_559delinsCA (p.Asp186AlafsTer?) c.314-979_314-977delinsCA (n.314-979_314-977delinsCA) c.280_282delinsCA n.830_832delinsCA n.797_799delinsCA | ClinVar dbSNP |
19 | g.11105586_11105588delinsCGGTATGGACTGCA | CA16620737 | LDLR | c.938_940delinsCGGTATGGACTGCA (p.Asp313AlafsTer?) c.680_682delinsCGGTATGGACTGCA (p.Asp227AlafsTer?) c.934_936delinsCGGTATGGACTGCA c.314-1806_314-1804delinsCGGTATGGACTGCA (n.314-1806_314-1804delinsCGGTATGGACTGCA) c.557_559delinsCGGTATGGACTGCA (p.Asp186AlafsTer?) c.314-979_314-977delinsCGGTATGGACTGCA (n.314-979_314-977delinsCGGTATGGACTGCA) c.280_282delinsCGGTATGGACTGCA n.830_832delinsCGGTATGGACTGCA n.797_799delinsCGGTATGGACTGCA | ClinVar dbSNP |
19 | g.11105586_11105598delinsACGAGGAAAACTG | CA2322767630 | LDLR | c.938_950delinsACGAGGAAAACTG (p.Asp313=) c.680_692delinsACGAGGAAAACTG (p.Asp227=) c.934_946delinsACGAGGAAAACTG c.314-1806_314-1794delinsACGAGGAAAACTG (n.314-1806_314-1794delinsACGAGGAAAACTG) c.557_569delinsACGAGGAAAACTG (p.Asp186=) c.314-979_314-967delinsACGAGGAAAACTG (n.314-979_314-967delinsACGAGGAAAACTG) c.280_292delinsACGAGGAAAACTG n.830_842delinsACGAGGAAAACTG n.797_809delinsACGAGGAAAACTG | |
19 | g.11105586_11105587insGGACAAATCTG | CA2695223214 | LDLR | c.938_939insGGACAAATCTG (p.Asp313GlufsTer?) c.680_681insGGACAAATCTG (p.Asp227GlufsTer?) c.934_935insGGACAAATCTG c.314-1806_314-1805insGGACAAATCTG (n.314-1806_314-1805insGGACAAATCTG) c.557_558insGGACAAATCTG (p.Asp186GlufsTer?) c.314-979_314-978insGGACAAATCTG (n.314-979_314-978insGGACAAATCTG) c.280_281insGGACAAATCTG n.830_831insGGACAAATCTG n.797_798insGGACAAATCTG | |
19 | g.11105587del | CA16602311 | LDLR | c.939del (p.Asp313GlufsTer?) c.681del (p.Asp227GlufsTer?) c.935del c.314-1805del (n.314-1805del) c.558del (p.Asp186GlufsTer?) c.314-978del (n.314-978del) c.281del n.831del n.798del | ClinVar dbSNP |
19 | g.11105587C>A | CA16609806 | LDLR | c.939C>A (p.Asp313Glu) c.681C>A (p.Asp227Glu) c.935C>A c.314-1805C>A (n.314-1805C>A) c.558C>A (p.Asp186Glu) c.314-978C>A (n.314-978C>A) c.281C>A n.831C>A n.798C>A | ClinVar dbSNP |
19 | g.11105587C= | CA2322767632 | LDLR | c.939C= (p.Asp313=) c.681C= (p.Asp227=) c.935C= c.314-1805C= (n.314-1805C=) c.558C= (p.Asp186=) c.314-978C= (n.314-978C=) c.281C= n.831C= n.798C= | |
19 | g.11105587C>G | CA023747 | LDLR | c.939C>G (p.Asp313Glu) c.681C>G (p.Asp227Glu) c.935C>G c.314-1805C>G (n.314-1805C>G) c.558C>G (p.Asp186Glu) c.314-978C>G (n.314-978C>G) c.281C>G n.831C>G n.798C>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.11105587C>T | CA044301 | LDLR | c.939C>T (p.Asp313=) c.681C>T (p.Asp227=) c.935C>T c.314-1805C>T (n.314-1805C>T) c.558C>T (p.Asp186=) c.314-978C>T (n.314-978C>T) c.281C>T n.831C>T n.798C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105587_11105588insTCAGGGAAACCCGACTGC | CA658653705 | LDLR | c.939_940insTCAGGGAAACCCGACTGC (p.Asp313_Glu314insSerGlyLysProAspCys) c.681_682insTCAGGGAAACCCGACTGC (p.Asp227_Glu228insSerGlyLysProAspCys) c.935_936insTCAGGGAAACCCGACTGC c.314-1805_314-1804insTCAGGGAAACCCGACTGC (n.314-1805_314-1804insTCAGGGAAACCCGACTGC) c.558_559insTCAGGGAAACCCGACTGC (p.Asp186_Glu187insSerGlyLysProAspCys) c.314-978_314-977insTCAGGGAAACCCGACTGC (n.314-978_314-977insTCAGGGAAACCCGACTGC) c.281_282insTCAGGGAAACCCGACTGC n.831_832insTCAGGGAAACCCGACTGC n.798_799insTCAGGGAAACCCGACTGC | ClinVar dbSNP |
19 | g.11105587_11105588del | CA2695223213 | LDLR | c.939_940del (p.Asp313GlufsTer12) c.681_682del (p.Asp227GlufsTer12) c.935_936del c.314-1805_314-1804del (n.314-1805_314-1804del) c.558_559del (p.Asp186GlufsTer12) c.314-978_314-977del (n.314-978_314-977del) c.281_282del n.831_832del n.798_799del | |
19 | g.11105587_11105588delinsCG | CA2322767633 | LDLR | c.939_940delinsCG (p.Asp313=) c.681_682delinsCG (p.Asp227=) c.935_936delinsCG c.314-1805_314-1804delinsCG (n.314-1805_314-1804delinsCG) c.558_559delinsCG (p.Asp186=) c.314-978_314-977delinsCG (n.314-978_314-977delinsCG) c.281_282delinsCG n.831_832delinsCG n.798_799delinsCG | |
19 | g.11105589_11105600del | CA16609807 | LDLR | c.941_952del (p.Glu314_Cys317del) c.683_694del (p.Glu228_Cys231del) c.937_948del c.314-1803_314-1792del (n.314-1803_314-1792del) c.560_571del (p.Glu187_Cys190del) c.314-976_314-965del (n.314-976_314-965del) c.283_294del n.833_844del n.800_811del | ClinVar dbSNP |
19 | g.11105587_11105588insTGAG | CA10585077 | LDLR | c.939_940insTGAG (p.Glu314Ter) c.681_682insTGAG (p.Glu228Ter) c.935_936insTGAG c.314-1805_314-1804insTGAG (n.314-1805_314-1804insTGAG) c.558_559insTGAG (p.Glu187Ter) c.314-978_314-977insTGAG (n.314-978_314-977insTGAG) c.281_282insTGAG n.831_832insTGAG n.798_799insTGAG | ClinVar dbSNP |
19 | g.11105588del | CA10585079 | LDLR | c.940del (p.Glu314ArgfsTer?) c.682del (p.Glu228ArgfsTer?) c.936del c.314-1804del (n.314-1804del) c.559del (p.Glu187ArgfsTer?) c.314-977del (n.314-977del) c.282del n.832del n.799del | ClinVar dbSNP |
19 | g.11105588G>A | CA023749 | LDLR | c.940G>A (p.Glu314Lys) c.682G>A (p.Glu228Lys) c.936G>A c.314-1804G>A (n.314-1804G>A) c.559G>A (p.Glu187Lys) c.314-977G>A (n.314-977G>A) c.282G>A n.832G>A n.799G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105588G>C | CA044313 | LDLR | c.940G>C (p.Glu314Gln) c.682G>C (p.Glu228Gln) c.936G>C c.314-1804G>C (n.314-1804G>C) c.559G>C (p.Glu187Gln) c.314-977G>C (n.314-977G>C) c.282G>C n.832G>C n.799G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105588G= | CA2322767635 | LDLR | c.940G= (p.Glu314=) c.682G= (p.Glu228=) c.936G= c.314-1804G= (n.314-1804G=) c.559G= (p.Glu187=) c.314-977G= (n.314-977G=) c.282G= n.832G= n.799G= | |
19 | g.11105588G>T | CA044327 | LDLR | c.940G>T (p.Glu314Ter) c.682G>T (p.Glu228Ter) c.936G>T c.314-1804G>T (n.314-1804G>T) c.559G>T (p.Glu187Ter) c.314-977G>T (n.314-977G>T) c.282G>T n.832G>T n.799G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105588delinsTGCA | CA10585080 | LDLR | c.940delinsTGCA (p.Glu314delinsCysLys) c.682delinsTGCA (p.Glu228delinsCysLys) c.936delinsTGCA c.314-1804delinsTGCA (n.314-1804delinsTGCA) c.559delinsTGCA (p.Glu187delinsCysLys) c.314-977delinsTGCA (n.314-977delinsTGCA) c.282delinsTGCA n.832delinsTGCA n.799delinsTGCA | ClinVar dbSNP |
19 | g.11105588delinsTCAAGGAAACCCGACTGCA | CA658653706 | LDLR | c.940delinsTCAAGGAAACCCGACTGCA (p.Glu314delinsSerArgLysProAspCysLys) c.682delinsTCAAGGAAACCCGACTGCA (p.Glu228delinsSerArgLysProAspCysLys) c.936delinsTCAAGGAAACCCGACTGCA c.314-1804delinsTCAAGGAAACCCGACTGCA (n.314-1804delinsTCAAGGAAACCCGACTGCA) c.559delinsTCAAGGAAACCCGACTGCA (p.Glu187delinsSerArgLysProAspCysLys) c.314-977delinsTCAAGGAAACCCGACTGCA (n.314-977delinsTCAAGGAAACCCGACTGCA) c.282delinsTCAAGGAAACCCGACTGCA n.832delinsTCAAGGAAACCCGACTGCA n.799delinsTCAAGGAAACCCGACTGCA | ClinVar dbSNP |
19 | g.11105588_11105589insGACAAATCTGAG | CA645509265 | LDLR | c.940_941insGACAAATCTGAG (p.Glu314GlyfsTer4) c.682_683insGACAAATCTGAG (p.Glu228GlyfsTer4) c.936_937insGACAAATCTGAG c.314-1804_314-1803insGACAAATCTGAG (n.314-1804_314-1803insGACAAATCTGAG) c.559_560insGACAAATCTGAG (p.Glu187GlyfsTer4) c.314-977_314-976insGACAAATCTGAG (n.314-977_314-976insGACAAATCTGAG) c.282_283insGACAAATCTGAG n.832_833insGACAAATCTGAG n.799_800insGACAAATCTGAG | ClinVar dbSNP |
19 | g.11105588dup | CA1139532995 | LDLR | c.940dup (p.Glu314GlyfsTer12) c.682dup (p.Glu228GlyfsTer12) c.936dup c.314-1804dup (n.314-1804dup) c.559dup (p.Glu187GlyfsTer12) c.314-977dup (n.314-977dup) c.282dup n.832dup n.799dup | |
19 | g.11105588_11105589delinsGA | CA2322767634 | LDLR | c.940_941delinsGA (p.Glu314=) c.682_683delinsGA (p.Glu228=) c.936_937delinsGA c.314-1804_314-1803delinsGA (n.314-1804_314-1803delinsGA) c.559_560delinsGA (p.Glu187=) c.314-977_314-976delinsGA (n.314-977_314-976delinsGA) c.282_283delinsGA n.832_833delinsGA n.799_800delinsGA | |
19 | g.11105588_11105589insGTATGGACTGCA | CA2499225314 | LDLR | c.940_941insGTATGGACTGCA (p.Glu314delinsGlyMetAspCysLys) c.682_683insGTATGGACTGCA (p.Glu228delinsGlyMetAspCysLys) c.936_937insGTATGGACTGCA c.314-1804_314-1803insGTATGGACTGCA (n.314-1804_314-1803insGTATGGACTGCA) c.559_560insGTATGGACTGCA (p.Glu187delinsGlyMetAspCysLys) c.314-977_314-976insGTATGGACTGCA (n.314-977_314-976insGTATGGACTGCA) c.282_283insGTATGGACTGCA n.832_833insGTATGGACTGCA n.799_800insGTATGGACTGCA | dbSNP |
19 | g.11105589del | CA645509266 | LDLR | c.941del (p.Glu314GlyfsTer?) c.683del (p.Glu228GlyfsTer?) c.937del c.314-1803del (n.314-1803del) c.560del (p.Glu187GlyfsTer?) c.314-976del (n.314-976del) c.283del n.833del n.800del | ClinVar dbSNP |
19 | g.11105589A= | CA2322767636 | LDLR | c.941A= (p.Glu314=) c.683A= (p.Glu228=) c.937A= c.314-1803A= (n.314-1803A=) c.560A= (p.Glu187=) c.314-976A= (n.314-976A=) c.283A= n.833A= n.800A= | |
19 | g.11105589A>C | CA10585081 | LDLR | c.941A>C (p.Glu314Ala) c.683A>C (p.Glu228Ala) c.937A>C c.314-1803A>C (n.314-1803A>C) c.560A>C (p.Glu187Ala) c.314-976A>C (n.314-976A>C) c.283A>C n.833A>C n.800A>C | ClinVar dbSNP gnomAD v4 |
19 | g.11105589A>G | CA16602312 | LDLR | c.941A>G (p.Glu314Gly) c.683A>G (p.Glu228Gly) c.937A>G c.314-1803A>G (n.314-1803A>G) c.560A>G (p.Glu187Gly) c.314-976A>G (n.314-976A>G) c.283A>G n.833A>G n.800A>G | ClinVar dbSNP |
19 | g.11105589A>T | CA404079083 | LDLR | c.941A>T (p.Glu314Val) c.683A>T (p.Glu228Val) c.937A>T c.314-1803A>T (n.314-1803A>T) c.560A>T (p.Glu187Val) c.314-976A>T (n.314-976A>T) c.283A>T n.833A>T n.800A>T | gnomAD v4 |
19 | g.11105589_11105590insAATCTGAC | CA2695223215 | LDLR | c.941_942insAATCTGAC (p.Glu315IlefsTer2) c.683_684insAATCTGAC (p.Glu229IlefsTer2) c.937_938insAATCTGAC c.314-1803_314-1802insAATCTGAC (n.314-1803_314-1802insAATCTGAC) c.560_561insAATCTGAC (p.Glu188IlefsTer2) c.314-976_314-975insAATCTGAC (n.314-976_314-975insAATCTGAC) c.283_284insAATCTGAC n.833_834insAATCTGAC n.800_801insAATCTGAC | |
19 | g.11105589_11105590insAAATCTGAC | CA2573050583 | LDLR | c.941_942insAAATCTGAC (p.Glu314_Glu315insAsnLeuThr) c.683_684insAAATCTGAC (p.Glu228_Glu229insAsnLeuThr) c.937_938insAAATCTGAC c.314-1803_314-1802insAAATCTGAC (n.314-1803_314-1802insAAATCTGAC) c.560_561insAAATCTGAC (p.Glu187_Glu188insAsnLeuThr) c.314-976_314-975insAAATCTGAC (n.314-976_314-975insAAATCTGAC) c.283_284insAAATCTGAC n.833_834insAAATCTGAC n.800_801insAAATCTGAC | |
19 | g.11105590G>A | CA505484857 | LDLR | c.942G>A (p.Glu314=) c.684G>A (p.Glu228=) c.938G>A c.314-1802G>A (n.314-1802G>A) c.561G>A (p.Glu187=) c.314-975G>A (n.314-975G>A) c.284G>A n.834G>A n.801G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105590G>C | CA404079085 | LDLR | c.942G>C (p.Glu314Asp) c.684G>C (p.Glu228Asp) c.938G>C c.314-1802G>C (n.314-1802G>C) c.561G>C (p.Glu187Asp) c.314-975G>C (n.314-975G>C) c.284G>C n.834G>C n.801G>C | ClinVar dbSNP |
19 | g.11105590G= | CA2322767637 | LDLR | c.942G= (p.Glu314=) c.684G= (p.Glu228=) c.938G= c.314-1802G= (n.314-1802G=) c.561G= (p.Glu187=) c.314-975G= (n.314-975G=) c.284G= n.834G= n.801G= | |
19 | g.11105590G>T | CA404079087 | LDLR | c.942G>T (p.Glu314Asp) c.684G>T (p.Glu228Asp) c.938G>T c.314-1802G>T (n.314-1802G>T) c.561G>T (p.Glu187Asp) c.314-975G>T (n.314-975G>T) c.284G>T n.834G>T n.801G>T | ClinVar dbSNP |
19 | g.11105591del | CA2582473382 | LDLR | c.943del (p.Glu315LysfsTer?) c.685del (p.Glu229LysfsTer?) c.939del c.314-1801del (n.314-1801del) c.562del (p.Glu188LysfsTer?) c.314-974del (n.314-974del) c.285del n.835del n.802del | gnomAD v4 |
19 | g.11105591G>A | CA404079090 | LDLR | c.943G>A (p.Glu315Lys) c.685G>A (p.Glu229Lys) c.939G>A c.314-1801G>A (n.314-1801G>A) c.562G>A (p.Glu188Lys) c.314-974G>A (n.314-974G>A) c.285G>A n.835G>A n.802G>A | ClinVar gnomAD v4 COSMIC |
19 | g.11105591G>C | CA404079091 | LDLR | c.943G>C (p.Glu315Gln) c.685G>C (p.Glu229Gln) c.939G>C c.314-1801G>C (n.314-1801G>C) c.562G>C (p.Glu188Gln) c.314-974G>C (n.314-974G>C) c.285G>C n.835G>C n.802G>C | gnomAD v4 |
19 | g.11105591G>T | CA404079092 | LDLR | c.943G>T (p.Glu315Ter) c.685G>T (p.Glu229Ter) c.939G>T c.314-1801G>T (n.314-1801G>T) c.562G>T (p.Glu188Ter) c.314-974G>T (n.314-974G>T) c.285G>T n.835G>T n.802G>T | ClinVar gnomAD v4 |
19 | g.11105592A= | CA2322767638 | LDLR | c.944A= (p.Glu315=) c.686A= (p.Glu229=) c.940A= c.314-1800A= (n.314-1800A=) c.563A= (p.Glu188=) c.314-973A= (n.314-973A=) c.286A= n.836A= n.803A= | |
19 | g.11105592A>C | CA404079095 | LDLR | c.944A>C (p.Glu315Ala) c.686A>C (p.Glu229Ala) c.940A>C c.314-1800A>C (n.314-1800A>C) c.563A>C (p.Glu188Ala) c.314-973A>C (n.314-973A>C) c.286A>C n.836A>C n.803A>C | |
19 | g.11105592A>G | CA404079098 | LDLR | c.944A>G (p.Glu315Gly) c.686A>G (p.Glu229Gly) c.940A>G c.314-1800A>G (n.314-1800A>G) c.563A>G (p.Glu188Gly) c.314-973A>G (n.314-973A>G) c.286A>G n.836A>G n.803A>G | |
19 | g.11105592A>T | CA404079096 | LDLR | c.944A>T (p.Glu315Val) c.686A>T (p.Glu229Val) c.940A>T c.314-1800A>T (n.314-1800A>T) c.563A>T (p.Glu188Val) c.314-973A>T (n.314-973A>T) c.286A>T n.836A>T n.803A>T | dbSNP |
19 | g.11105592_11105595del | CA2695223216 | LDLR | c.944_947del (p.Glu315AlafsTer?) c.686_689del (p.Glu229AlafsTer?) c.940_943del c.314-1800_314-1797del (n.314-1800_314-1797del) c.563_566del (p.Glu188AlafsTer?) c.314-973_314-970del (n.314-973_314-970del) c.286_289del n.836_839del n.803_806del | |
19 | g.11105593A>C | CA404079100 | LDLR | c.945A>C (p.Glu315Asp) c.687A>C (p.Glu229Asp) c.941A>C c.314-1799A>C (n.314-1799A>C) c.564A>C (p.Glu188Asp) c.314-972A>C (n.314-972A>C) c.287A>C n.837A>C n.804A>C | |
19 | g.11105593A>G | CA505484859 | LDLR | c.945A>G (p.Glu315=) c.687A>G (p.Glu229=) c.941A>G c.314-1799A>G (n.314-1799A>G) c.564A>G (p.Glu188=) c.314-972A>G (n.314-972A>G) c.287A>G n.837A>G n.804A>G | |
19 | g.11105593A>T | CA404079102 | LDLR | c.945A>T (p.Glu315Asp) c.687A>T (p.Glu229Asp) c.941A>T c.314-1799A>T (n.314-1799A>T) c.564A>T (p.Glu188Asp) c.314-972A>T (n.314-972A>T) c.287A>T n.837A>T n.804A>T | |
19 | g.11105594A= | CA2322767639 | LDLR | c.946A= (p.Asn316=) c.688A= (p.Asn230=) c.942A= c.314-1798A= (n.314-1798A=) c.565A= (p.Asn189=) c.314-971A= (n.314-971A=) c.288A= n.838A= n.805A= | |
19 | g.11105594A>C | CA404079105 | LDLR | c.946A>C (p.Asn316His) c.688A>C (p.Asn230His) c.942A>C c.314-1798A>C (n.314-1798A>C) c.565A>C (p.Asn189His) c.314-971A>C (n.314-971A>C) c.288A>C n.838A>C n.805A>C | |
19 | g.11105594A>G | CA404079106 | LDLR | c.946A>G (p.Asn316Asp) c.688A>G (p.Asn230Asp) c.942A>G c.314-1798A>G (n.314-1798A>G) c.565A>G (p.Asn189Asp) c.314-971A>G (n.314-971A>G) c.288A>G n.838A>G n.805A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105594A>T | CA404079108 | LDLR | c.946A>T (p.Asn316Tyr) c.688A>T (p.Asn230Tyr) c.942A>T c.314-1798A>T (n.314-1798A>T) c.565A>T (p.Asn189Tyr) c.314-971A>T (n.314-971A>T) c.288A>T n.838A>T n.805A>T | gnomAD v4 |
19 | g.11105595A= | CA2322767640 | LDLR | c.947A= (p.Asn316=) c.689A= (p.Asn230=) c.943A= c.314-1797A= (n.314-1797A=) c.566A= (p.Asn189=) c.314-970A= (n.314-970A=) c.289A= n.839A= n.806A= | |
19 | g.11105595A>C | CA404079111 | LDLR | c.947A>C (p.Asn316Thr) c.689A>C (p.Asn230Thr) c.943A>C c.314-1797A>C (n.314-1797A>C) c.566A>C (p.Asn189Thr) c.314-970A>C (n.314-970A>C) c.289A>C n.839A>C n.806A>C | dbSNP gnomAD v4 |
19 | g.11105595A>G | CA404079112 | LDLR | c.947A>G (p.Asn316Ser) c.689A>G (p.Asn230Ser) c.943A>G c.314-1797A>G (n.314-1797A>G) c.566A>G (p.Asn189Ser) c.314-970A>G (n.314-970A>G) c.289A>G n.839A>G n.806A>G | |
19 | g.11105595A>T | CA404079114 | LDLR | c.947A>T (p.Asn316Ile) c.689A>T (p.Asn230Ile) c.943A>T c.314-1797A>T (n.314-1797A>T) c.566A>T (p.Asn189Ile) c.314-970A>T (n.314-970A>T) c.289A>T n.839A>T n.806A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105596C>A | CA404079119 | LDLR | c.948C>A (p.Asn316Lys) c.690C>A (p.Asn230Lys) c.944C>A c.314-1796C>A (n.314-1796C>A) c.567C>A (p.Asn189Lys) c.314-969C>A (n.314-969C>A) c.290C>A n.840C>A n.807C>A | |
19 | g.11105596C= | CA2322767641 | LDLR | c.948C= (p.Asn316=) c.690C= (p.Asn230=) c.944C= c.314-1796C= (n.314-1796C=) c.567C= (p.Asn189=) c.314-969C= (n.314-969C=) c.290C= n.840C= n.807C= | |
19 | g.11105596C>G | CA404079117 | LDLR | c.948C>G (p.Asn316Lys) c.690C>G (p.Asn230Lys) c.944C>G c.314-1796C>G (n.314-1796C>G) c.567C>G (p.Asn189Lys) c.314-969C>G (n.314-969C>G) c.290C>G n.840C>G n.807C>G | gnomAD v4 |
19 | g.11105596C>T | CA10585082 | LDLR | c.948C>T (p.Asn316=) c.690C>T (p.Asn230=) c.944C>T c.314-1796C>T (n.314-1796C>T) c.567C>T (p.Asn189=) c.314-969C>T (n.314-969C>T) c.290C>T n.840C>T n.807C>T | ClinVar dbSNP |
19 | g.11105596_11105618delinsCTGCGGTATGGGCGGGGCCAGGG | CA2322767642 | LDLR | c.948_952+18delinsCTGCGGTATGGGCGGGGCCAGGG c.690_694+18delinsCTGCGGTATGGGCGGGGCCAGGG c.944_948+18delinsCTGCGGTATGGGCGGGGCCAGGG c.314-1796_314-1774delinsCTGCGGTATGGGCGGGGCCAGGG (n.314-1796_314-1774delinsCTGCGGTATGGGCGGGGCCAGGG) c.567_571+18delinsCTGCGGTATGGGCGGGGCCAGGG c.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG (n.314-969_314-947delinsCTGCGGTATGGGCGGGGCCAGGG) c.290_294+18delinsCTGCGGTATGGGCGGGGCCAGGG n.840_844+18delinsCTGCGGTATGGGCGGGGCCAGGG n.807_811+18delinsCTGCGGTATGGGCGGGGCCAGGG | |
19 | g.11105597T>A | CA404079122 | LDLR | c.949T>A (p.Cys317Ser) c.691T>A (p.Cys231Ser) c.945T>A c.314-1795T>A (n.314-1795T>A) c.568T>A (p.Cys190Ser) c.314-968T>A (n.314-968T>A) c.291T>A n.841T>A n.808T>A | |
19 | g.11105597T>C | CA10585083 | LDLR | c.949T>C (p.Cys317Arg) c.691T>C (p.Cys231Arg) c.945T>C c.314-1795T>C (n.314-1795T>C) c.568T>C (p.Cys190Arg) c.314-968T>C (n.314-968T>C) c.291T>C n.841T>C n.808T>C | ClinVar dbSNP |
19 | g.11105597T>G | CA044350 | LDLR | c.949T>G (p.Cys317Gly) c.691T>G (p.Cys231Gly) c.945T>G c.314-1795T>G (n.314-1795T>G) c.568T>G (p.Cys190Gly) c.314-968T>G (n.314-968T>G) c.291T>G n.841T>G n.808T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105597T= | CA2322767643 | LDLR | c.949T= (p.Cys317=) c.691T= (p.Cys231=) c.945T= c.314-1795T= (n.314-1795T=) c.568T= (p.Cys190=) c.314-968T= (n.314-968T=) c.291T= n.841T= n.808T= | |
19 | g.11105599_11105620del | CA10585086 | LDLR | c.951_952+20del c.693_694+20del c.947_948+20del c.314-1793_314-1772del (n.314-1793_314-1772del) c.570_571+20del c.314-966_314-945del (n.314-966_314-945del) c.293_294+20del n.843_844+20del n.810_811+20del | ClinVar dbSNP |
19 | g.11105598G>A | CA10585084 | LDLR | c.950G>A (p.Cys317Tyr) c.692G>A (p.Cys231Tyr) c.946G>A c.314-1794G>A (n.314-1794G>A) c.569G>A (p.Cys190Tyr) c.314-967G>A (n.314-967G>A) c.292G>A n.842G>A n.809G>A | ClinVar dbSNP COSMIC |
19 | g.11105598G>C | CA404079133 | LDLR | c.950G>C (p.Cys317Ser) c.692G>C (p.Cys231Ser) c.946G>C c.314-1794G>C (n.314-1794G>C) c.569G>C (p.Cys190Ser) c.314-967G>C (n.314-967G>C) c.292G>C n.842G>C n.809G>C | |
19 | g.11105598G= | CA2322767644 | LDLR | c.950G= (p.Cys317=) c.692G= (p.Cys231=) c.946G= c.314-1794G= (n.314-1794G=) c.569G= (p.Cys190=) c.314-967G= (n.314-967G=) c.292G= n.842G= n.809G= | |
19 | g.11105598G>T | CA404079130 | LDLR | c.950G>T (p.Cys317Phe) c.692G>T (p.Cys231Phe) c.946G>T c.314-1794G>T (n.314-1794G>T) c.569G>T (p.Cys190Phe) c.314-967G>T (n.314-967G>T) c.292G>T n.842G>T n.809G>T | gnomAD v4 |
19 | g.11105598_11105599delinsGC | CA916084118 | LDLR | c.950_951delinsGC (p.Cys317=) c.692_693delinsGC (p.Cys231=) c.946_947delinsGC c.314-1794_314-1793delinsGC (n.314-1794_314-1793delinsGC) c.569_570delinsGC (p.Cys190=) c.314-967_314-966delinsGC (n.314-967_314-966delinsGC) c.292_293delinsGC n.842_843delinsGC n.809_810delinsGC | |
19 | g.11105600_11106565del | CA10585087 | LDLR | c.952_953del c.694_695del c.948_949del c.314-1792_314-827del (n.314-1792_314-827del) c.571_572del c.314-965_314del c.294_295del n.844_845del n.811_812del | ClinVar |
19 | g.11105599del | CA2582473392 | LDLR | c.951del (p.Cys317TrpfsTer?) c.693del (p.Cys231TrpfsTer?) c.947del c.314-1793del (n.314-1793del) c.570del (p.Cys190TrpfsTer?) c.314-966del (n.314-966del) c.293del n.843del n.810del | gnomAD v4 |
19 | g.11105599C>A | CA023751 | LDLR | c.951C>A (p.Cys317Ter) c.693C>A (p.Cys231Ter) c.947C>A c.314-1793C>A (n.314-1793C>A) c.570C>A (p.Cys190Ter) c.314-966C>A (n.314-966C>A) c.293C>A n.843C>A n.810C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105599C= | CA2322767645 | LDLR | c.951C= (p.Cys317=) c.693C= (p.Cys231=) c.947C= c.314-1793C= (n.314-1793C=) c.570C= (p.Cys190=) c.314-966C= (n.314-966C=) c.293C= n.843C= n.810C= | |
19 | g.11105599C>G | CA10585085 | LDLR | c.951C>G (p.Cys317Trp) c.693C>G (p.Cys231Trp) c.947C>G c.314-1793C>G (n.314-1793C>G) c.570C>G (p.Cys190Trp) c.314-966C>G (n.314-966C>G) c.293C>G n.843C>G n.810C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105599C>T | CA505484862 | LDLR | c.951C>T (p.Cys317=) c.693C>T (p.Cys231=) c.947C>T c.314-1793C>T (n.314-1793C>T) c.570C>T (p.Cys190=) c.314-966C>T (n.314-966C>T) c.293C>T n.843C>T n.810C>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105600G>A | CA044498 | LDLR | c.952G>A (p.Ala318Thr) c.694G>A (p.Ala232Thr) c.948G>A c.314-1792G>A (n.314-1792G>A) c.571G>A (p.Ala191Thr) c.314-965G>A (n.314-965G>A) c.294G>A n.844G>A n.811G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105600G>C | CA404079142 | LDLR | c.952G>C (p.Ala318Pro) c.694G>C (p.Ala232Pro) c.948G>C c.314-1792G>C (n.314-1792G>C) c.571G>C (p.Ala191Pro) c.314-965G>C (n.314-965G>C) c.294G>C n.844G>C n.811G>C | |
19 | g.11105600G= | CA2322767646 | LDLR | c.952G= (p.Ala318=) c.694G= (p.Ala232=) c.948G= c.314-1792G= (n.314-1792G=) c.571G= (p.Ala191=) c.314-965G= (n.314-965G=) c.294G= n.844G= n.811G= | |
19 | g.11105600G>T | CA404079145 | LDLR | c.952G>T (p.Ala318Ser) c.694G>T (p.Ala232Ser) c.948G>T c.314-1792G>T (n.314-1792G>T) c.571G>T (p.Ala191Ser) c.314-965G>T (n.314-965G>T) c.294G>T n.844G>T n.811G>T | ClinVar dbSNP |
19 | g.11105603_11105619del | CA2582473395 | LDLR | c.952+3_952+19del c.694+3_694+19del c.948+3_948+19del c.314-1789_314-1773del (n.314-1789_314-1773del) c.571+3_571+19del c.314-962_314-946del (n.314-962_314-946del) c.294+3_294+19del n.844+3_844+19del n.811+3_811+19del | gnomAD v4 |
19 | g.11105601_11106564dup | CA2695195457 | LDLR | c.952+1_953-1dup c.694+1_695-1dup c.948+1_949-1dup c.314-1791_314-828dup (n.314-1791_314-828dup) c.571+1_572-1dup c.314-964_314-1dup (n.314-964_314-1dup) c.294+1_295-1dup n.844+1_845-1dup n.811+1_812-1dup | |
19 | g.11105601G>A | CA10585088 | LDLR | c.952+1G>A (n.952+1G>A) c.694+1G>A (n.694+1G>A) c.948+1G>A c.314-1791G>A (n.314-1791G>A) c.571+1G>A (n.571+1G>A) c.314-964G>A (n.314-964G>A) c.294+1G>A n.844+1G>A n.811+1G>A | ClinVar dbSNP |
19 | g.11105601G>C | CA404079152 | LDLR | c.952+1G>C (n.952+1G>C) c.694+1G>C (n.694+1G>C) c.948+1G>C c.314-1791G>C (n.314-1791G>C) c.571+1G>C (n.571+1G>C) c.314-964G>C (n.314-964G>C) c.294+1G>C n.844+1G>C n.811+1G>C | ClinVar dbSNP |
19 | g.11105601G= | CA2322767647 | LDLR | c.952+1G= (n.952+1G=) c.694+1G= (n.694+1G=) c.948+1G= c.314-1791G= (n.314-1791G=) c.571+1G= (n.571+1G=) c.314-964G= (n.314-964G=) c.294+1G= n.844+1G= n.811+1G= | |
19 | g.11105601G>T | CA10585089 | LDLR | c.952+1G>T (n.952+1G>T) c.694+1G>T (n.694+1G>T) c.948+1G>T c.314-1791G>T (n.314-1791G>T) c.571+1G>T (n.571+1G>T) c.314-964G>T (n.314-964G>T) c.294+1G>T n.844+1G>T n.811+1G>T | ClinVar dbSNP gnomAD v4 |
19 | g.11105602T>A | CA404079157 | LDLR | c.952+2T>A (n.952+2T>A) c.694+2T>A (n.694+2T>A) c.948+2T>A c.314-1790T>A (n.314-1790T>A) c.571+2T>A (n.571+2T>A) c.314-963T>A (n.314-963T>A) c.294+2T>A n.844+2T>A n.811+2T>A | |
19 | g.11105602T>C | CA023753 | LDLR | c.952+2T>C (n.952+2T>C) c.694+2T>C (n.694+2T>C) c.948+2T>C c.314-1790T>C (n.314-1790T>C) c.571+2T>C (n.571+2T>C) c.314-963T>C (n.314-963T>C) c.294+2T>C n.844+2T>C n.811+2T>C | ClinVar dbSNP |
19 | g.11105602T>G | CA404079161 | LDLR | c.952+2T>G (n.952+2T>G) c.694+2T>G (n.694+2T>G) c.948+2T>G c.314-1790T>G (n.314-1790T>G) c.571+2T>G (n.571+2T>G) c.314-963T>G (n.314-963T>G) c.294+2T>G n.844+2T>G n.811+2T>G | |
19 | g.11105602T= | CA2322767648 | LDLR | c.952+2T= (n.952+2T=) c.694+2T= (n.694+2T=) c.948+2T= c.314-1790T= (n.314-1790T=) c.571+2T= (n.571+2T=) c.314-963T= (n.314-963T=) c.294+2T= n.844+2T= n.811+2T= | |
19 | g.11105603A= | CA2322767649 | LDLR | c.952+3A= (n.952+3A=) c.694+3A= (n.694+3A=) c.948+3A= c.314-1789A= (n.314-1789A=) c.571+3A= (n.571+3A=) c.314-962A= (n.314-962A=) c.294+3A= n.844+3A= n.811+3A= | |
19 | g.11105603A>C | CA2582473397 | LDLR | c.952+3A>C (n.952+3A>C) c.694+3A>C (n.694+3A>C) c.948+3A>C c.314-1789A>C (n.314-1789A>C) c.571+3A>C (n.571+3A>C) c.314-962A>C (n.314-962A>C) c.294+3A>C n.844+3A>C n.811+3A>C | gnomAD v4 |
19 | g.11105603A>G | CA044412 | LDLR | c.952+3A>G (n.952+3A>G) c.694+3A>G (n.694+3A>G) c.948+3A>G c.314-1789A>G (n.314-1789A>G) c.571+3A>G (n.571+3A>G) c.314-962A>G (n.314-962A>G) c.294+3A>G n.844+3A>G n.811+3A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105603A>T | CA993532645 | LDLR | c.952+3A>T (n.952+3A>T) c.694+3A>T (n.694+3A>T) c.948+3A>T c.314-1789A>T (n.314-1789A>T) c.571+3A>T (n.571+3A>T) c.314-962A>T (n.314-962A>T) c.294+3A>T n.844+3A>T n.811+3A>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105604T>C | CA2582473399 | LDLR | c.952+4T>C (n.952+4T>C) c.694+4T>C (n.694+4T>C) c.948+4T>C c.314-1788T>C (n.314-1788T>C) c.571+4T>C (n.571+4T>C) c.314-961T>C (n.314-961T>C) c.294+4T>C n.844+4T>C n.811+4T>C | gnomAD v4 |
19 | g.11105604T>G | CA993532648 | LDLR | c.952+4T>G (n.952+4T>G) c.694+4T>G (n.694+4T>G) c.948+4T>G c.314-1788T>G (n.314-1788T>G) c.571+4T>G (n.571+4T>G) c.314-961T>G (n.314-961T>G) c.294+4T>G n.844+4T>G n.811+4T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105604T= | CA2322767650 | LDLR | c.952+4T= (n.952+4T=) c.694+4T= (n.694+4T=) c.948+4T= c.314-1788T= (n.314-1788T=) c.571+4T= (n.571+4T=) c.314-961T= (n.314-961T=) c.294+4T= n.844+4T= n.811+4T= | |
19 | g.11105604dup | CA10585090 | LDLR | c.952+4dup (n.952+4dup) c.694+4dup (n.694+4dup) c.948+4dup c.314-1788dup (n.314-1788dup) c.571+4dup (n.571+4dup) c.314-961dup (n.314-961dup) c.294+4dup n.844+4dup n.811+4dup | ClinVar dbSNP |
19 | g.11105604_11105615delinsTGGGCGGGGCCA | CA2322767651 | LDLR | c.952+4_952+15delinsTGGGCGGGGCCA (n.952+4_952+15delinsTGGGCGGGGCCA) c.694+4_694+15delinsTGGGCGGGGCCA (n.694+4_694+15delinsTGGGCGGGGCCA) c.948+4_948+15delinsTGGGCGGGGCCA c.314-1788_314-1777delinsTGGGCGGGGCCA (n.314-1788_314-1777delinsTGGGCGGGGCCA) c.571+4_571+15delinsTGGGCGGGGCCA (n.571+4_571+15delinsTGGGCGGGGCCA) c.314-961_314-950delinsTGGGCGGGGCCA (n.314-961_314-950delinsTGGGCGGGGCCA) c.294+4_294+15delinsTGGGCGGGGCCA n.844+4_844+15delinsTGGGCGGGGCCA n.811+4_811+15delinsTGGGCGGGGCCA | |
19 | g.11105605G>A | CA2582473401 | LDLR | c.952+5G>A (n.952+5G>A) c.694+5G>A (n.694+5G>A) c.948+5G>A c.314-1787G>A (n.314-1787G>A) c.571+5G>A (n.571+5G>A) c.314-960G>A (n.314-960G>A) c.294+5G>A n.844+5G>A n.811+5G>A | gnomAD v4 |
19 | g.11105605G>T | CA2840305520 | LDLR | c.952+5G>T (n.952+5G>T) c.694+5G>T (n.694+5G>T) c.948+5G>T c.314-1787G>T (n.314-1787G>T) c.571+5G>T (n.571+5G>T) c.314-960G>T (n.314-960G>T) c.294+5G>T n.844+5G>T n.811+5G>T | |
19 | g.11105607dup | CA2582473403 | LDLR | c.952+7dup (n.952+7dup) c.694+7dup (n.694+7dup) c.948+7dup c.314-1785dup (n.314-1785dup) c.571+7dup (n.571+7dup) c.314-958dup (n.314-958dup) c.294+7dup n.844+7dup n.811+7dup | gnomAD v4 |
19 | g.11105606_11105607del | CA2838198399 | LDLR | c.952+6_952+7del (n.952+6_952+7del) c.694+6_694+7del (n.694+6_694+7del) c.948+6_948+7del c.314-1786_314-1785del (n.314-1786_314-1785del) c.571+6_571+7del (n.571+6_571+7del) c.314-959_314-958del (n.314-959_314-958del) c.294+6_294+7del n.844+6_844+7del n.811+6_811+7del | |
19 | g.11105606_11105612dup | CA2573130225 | LDLR | c.952+6_952+12dup (n.952+6_952+12dup) c.694+6_694+12dup (n.694+6_694+12dup) c.948+6_948+12dup c.314-1786_314-1780dup (n.314-1786_314-1780dup) c.571+6_571+12dup (n.571+6_571+12dup) c.314-959_314-953dup (n.314-959_314-953dup) c.294+6_294+12dup n.844+6_844+12dup n.811+6_811+12dup | |
19 | g.11105609_11105613del | CA2582473402 | LDLR | c.952+9_952+13del (n.952+9_952+13del) c.694+9_694+13del (n.694+9_694+13del) c.948+9_948+13del c.314-1783_314-1779del (n.314-1783_314-1779del) c.571+9_571+13del (n.571+9_571+13del) c.314-956_314-952del (n.314-956_314-952del) c.294+9_294+13del n.844+9_844+13del n.811+9_811+13del | gnomAD v4 |
19 | g.11105608_11105618dup | CA10585091 | LDLR | c.952+8_952+18dup (n.952+8_952+18dup) c.694+8_694+18dup (n.694+8_694+18dup) c.948+8_948+18dup c.314-1784_314-1774dup (n.314-1784_314-1774dup) c.571+8_571+18dup (n.571+8_571+18dup) c.314-957_314-947dup (n.314-957_314-947dup) c.294+8_294+18dup n.844+8_844+18dup n.811+8_811+18dup | ClinVar dbSNP |
19 | g.11105608_11105618del | CA044464 | LDLR | c.952+8_952+18del (n.952+8_952+18del) c.694+8_694+18del (n.694+8_694+18del) c.948+8_948+18del c.314-1784_314-1774del (n.314-1784_314-1774del) c.571+8_571+18del (n.571+8_571+18del) c.314-957_314-947del (n.314-957_314-947del) c.294+8_294+18del n.844+8_844+18del n.811+8_811+18del | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105614_11105630del | CA2582473400 | LDLR | c.952+14_952+30del (n.952+14_952+30del) c.694+14_694+30del (n.694+14_694+30del) c.948+14_948+30del c.314-1778_314-1762del (n.314-1778_314-1762del) c.571+14_571+30del (n.571+14_571+30del) c.314-951_314-935del (n.314-951_314-935del) c.294+14_294+30del n.844+14_844+30del n.811+14_811+30del | gnomAD v4 |
19 | g.11105606G>A | CA305298127 | LDLR | c.952+6G>A (n.952+6G>A) c.694+6G>A (n.694+6G>A) c.948+6G>A c.314-1786G>A (n.314-1786G>A) c.571+6G>A (n.571+6G>A) c.314-959G>A (n.314-959G>A) c.294+6G>A n.844+6G>A n.811+6G>A | ClinVar dbSNP gnomAD v4 |
19 | g.11105606G= | CA2322767652 | LDLR | c.952+6G= (n.952+6G=) c.694+6G= (n.694+6G=) c.948+6G= c.314-1786G= (n.314-1786G=) c.571+6G= (n.571+6G=) c.314-959G= (n.314-959G=) c.294+6G= n.844+6G= n.811+6G= | |
19 | g.11105606G>T | CA631763667 | LDLR | c.952+6G>T (n.952+6G>T) c.694+6G>T (n.694+6G>T) c.948+6G>T c.314-1786G>T (n.314-1786G>T) c.571+6G>T (n.571+6G>T) c.314-959G>T (n.314-959G>T) c.294+6G>T n.844+6G>T n.811+6G>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105607G>A | CA2322767654 | LDLR | c.952+7G>A (n.952+7G>A) c.694+7G>A (n.694+7G>A) c.948+7G>A c.314-1785G>A (n.314-1785G>A) c.571+7G>A (n.571+7G>A) c.314-958G>A (n.314-958G>A) c.294+7G>A n.844+7G>A n.811+7G>A | ClinVar dbSNP |
19 | g.11105607G>C | CA2499225315 | LDLR | c.952+7G>C (n.952+7G>C) c.694+7G>C (n.694+7G>C) c.948+7G>C c.314-1785G>C (n.314-1785G>C) c.571+7G>C (n.571+7G>C) c.314-958G>C (n.314-958G>C) c.294+7G>C n.844+7G>C n.811+7G>C | ClinVar dbSNP |
19 | g.11105607G= | CA2322767653 | LDLR | c.952+7G= (n.952+7G=) c.694+7G= (n.694+7G=) c.948+7G= c.314-1785G= (n.314-1785G=) c.571+7G= (n.571+7G=) c.314-958G= (n.314-958G=) c.294+7G= n.844+7G= n.811+7G= | |
19 | g.11105608C>A | CA2322767656 | LDLR | c.952+8C>A (n.952+8C>A) c.694+8C>A (n.694+8C>A) c.948+8C>A c.314-1784C>A (n.314-1784C>A) c.571+8C>A (n.571+8C>A) c.314-957C>A (n.314-957C>A) c.294+8C>A n.844+8C>A n.811+8C>A | dbSNP gnomAD v4 |
19 | g.11105608C= | CA2322767655 | LDLR | c.952+8C= (n.952+8C=) c.694+8C= (n.694+8C=) c.948+8C= c.314-1784C= (n.314-1784C=) c.571+8C= (n.571+8C=) c.314-957C= (n.314-957C=) c.294+8C= n.844+8C= n.811+8C= | |
19 | g.11105608C>G | CA993532652 | LDLR | c.952+8C>G (n.952+8C>G) c.694+8C>G (n.694+8C>G) c.948+8C>G c.314-1784C>G (n.314-1784C>G) c.571+8C>G (n.571+8C>G) c.314-957C>G (n.314-957C>G) c.294+8C>G n.844+8C>G n.811+8C>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105608C>T | CA044476 | LDLR | c.952+8C>T (n.952+8C>T) c.694+8C>T (n.694+8C>T) c.948+8C>T c.314-1784C>T (n.314-1784C>T) c.571+8C>T (n.571+8C>T) c.314-957C>T (n.314-957C>T) c.294+8C>T n.844+8C>T n.811+8C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105609G>A | CA044489 | LDLR | c.952+9G>A (n.952+9G>A) c.694+9G>A (n.694+9G>A) c.948+9G>A c.314-1783G>A (n.314-1783G>A) c.571+9G>A (n.571+9G>A) c.314-956G>A (n.314-956G>A) c.294+9G>A n.844+9G>A n.811+9G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105609G>C | CA305298131 | LDLR | c.952+9G>C (n.952+9G>C) c.694+9G>C (n.694+9G>C) c.948+9G>C c.314-1783G>C (n.314-1783G>C) c.571+9G>C (n.571+9G>C) c.314-956G>C (n.314-956G>C) c.294+9G>C n.844+9G>C n.811+9G>C | dbSNP |
19 | g.11105609G= | CA2322767657 | LDLR | c.952+9G= (n.952+9G=) c.694+9G= (n.694+9G=) c.948+9G= c.314-1783G= (n.314-1783G=) c.571+9G= (n.571+9G=) c.314-956G= (n.314-956G=) c.294+9G= n.844+9G= n.811+9G= | |
19 | g.11105609G>T | CA2582473404 | LDLR | c.952+9G>T (n.952+9G>T) c.694+9G>T (n.694+9G>T) c.948+9G>T c.314-1783G>T (n.314-1783G>T) c.571+9G>T (n.571+9G>T) c.314-956G>T (n.314-956G>T) c.294+9G>T n.844+9G>T n.811+9G>T | ClinVar gnomAD v4 |
19 | g.11105612del | CA2813589961 | LDLR | c.952+12del (n.952+12del) c.694+12del (n.694+12del) c.948+12del c.314-1780del (n.314-1780del) c.571+12del (n.571+12del) c.314-953del (n.314-953del) c.294+12del n.844+12del n.811+12del | |
19 | g.11105610G= | CA2322767658 | LDLR | c.952+10G= (n.952+10G=) c.694+10G= (n.694+10G=) c.948+10G= c.314-1782G= (n.314-1782G=) c.571+10G= (n.571+10G=) c.314-955G= (n.314-955G=) c.294+10G= n.844+10G= n.811+10G= | |
19 | g.11105610G>T | CA783243243 | LDLR | c.952+10G>T (n.952+10G>T) c.694+10G>T (n.694+10G>T) c.948+10G>T c.314-1782G>T (n.314-1782G>T) c.571+10G>T (n.571+10G>T) c.314-955G>T (n.314-955G>T) c.294+10G>T n.844+10G>T n.811+10G>T | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105611G>A | CA2582473405 | LDLR | c.952+11G>A (n.952+11G>A) c.694+11G>A (n.694+11G>A) c.948+11G>A c.314-1781G>A (n.314-1781G>A) c.571+11G>A (n.571+11G>A) c.314-954G>A (n.314-954G>A) c.294+11G>A n.844+11G>A n.811+11G>A | gnomAD v4 |
19 | g.11105611G>T | CA2840305521 | LDLR | c.952+11G>T (n.952+11G>T) c.694+11G>T (n.694+11G>T) c.948+11G>T c.314-1781G>T (n.314-1781G>T) c.571+11G>T (n.571+11G>T) c.314-954G>T (n.314-954G>T) c.294+11G>T n.844+11G>T n.811+11G>T | |
19 | g.11105612G>A | CA631763668 | LDLR | c.952+12G>A (n.952+12G>A) c.694+12G>A (n.694+12G>A) c.948+12G>A c.314-1780G>A (n.314-1780G>A) c.571+12G>A (n.571+12G>A) c.314-953G>A (n.314-953G>A) c.294+12G>A n.844+12G>A n.811+12G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105612G= | CA2322767659 | LDLR | c.952+12G= (n.952+12G=) c.694+12G= (n.694+12G=) c.948+12G= c.314-1780G= (n.314-1780G=) c.571+12G= (n.571+12G=) c.314-953G= (n.314-953G=) c.294+12G= n.844+12G= n.811+12G= | |
19 | g.11105613C>A | CA2582473406 | LDLR | c.952+13C>A (n.952+13C>A) c.694+13C>A (n.694+13C>A) c.948+13C>A c.314-1779C>A (n.314-1779C>A) c.571+13C>A (n.571+13C>A) c.314-952C>A (n.314-952C>A) c.294+13C>A n.844+13C>A n.811+13C>A | gnomAD v4 |
19 | g.11105613C= | CA2322767660 | LDLR | c.952+13C= (n.952+13C=) c.694+13C= (n.694+13C=) c.948+13C= c.314-1779C= (n.314-1779C=) c.571+13C= (n.571+13C=) c.314-952C= (n.314-952C=) c.294+13C= n.844+13C= n.811+13C= | |
19 | g.11105613C>T | CA993532667 | LDLR | c.952+13C>T (n.952+13C>T) c.694+13C>T (n.694+13C>T) c.948+13C>T c.314-1779C>T (n.314-1779C>T) c.571+13C>T (n.571+13C>T) c.314-952C>T (n.314-952C>T) c.294+13C>T n.844+13C>T n.811+13C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105614C>A | CA2582473408 | LDLR | c.952+14C>A (n.952+14C>A) c.694+14C>A (n.694+14C>A) c.948+14C>A c.314-1778C>A (n.314-1778C>A) c.571+14C>A (n.571+14C>A) c.314-951C>A (n.314-951C>A) c.294+14C>A n.844+14C>A n.811+14C>A | gnomAD v4 |
19 | g.11105614C= | CA2322767661 | LDLR | c.952+14C= (n.952+14C=) c.694+14C= (n.694+14C=) c.948+14C= c.314-1778C= (n.314-1778C=) c.571+14C= (n.571+14C=) c.314-951C= (n.314-951C=) c.294+14C= n.844+14C= n.811+14C= | |
19 | g.11105614C>G | CA2582473407 | LDLR | c.952+14C>G (n.952+14C>G) c.694+14C>G (n.694+14C>G) c.948+14C>G c.314-1778C>G (n.314-1778C>G) c.571+14C>G (n.571+14C>G) c.314-951C>G (n.314-951C>G) c.294+14C>G n.844+14C>G n.811+14C>G | gnomAD v4 |
19 | g.11105614C>T | CA631763669 | LDLR | c.952+14C>T (n.952+14C>T) c.694+14C>T (n.694+14C>T) c.948+14C>T c.314-1778C>T (n.314-1778C>T) c.571+14C>T (n.571+14C>T) c.314-951C>T (n.314-951C>T) c.294+14C>T n.844+14C>T n.811+14C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105615A= | CA2322767662 | LDLR | c.952+15A= (n.952+15A=) c.694+15A= (n.694+15A=) c.948+15A= c.314-1777A= (n.314-1777A=) c.571+15A= (n.571+15A=) c.314-950A= (n.314-950A=) c.294+15A= n.844+15A= n.811+15A= | |
19 | g.11105615A>C | CA2582473409 | LDLR | c.952+15A>C (n.952+15A>C) c.694+15A>C (n.694+15A>C) c.948+15A>C c.314-1777A>C (n.314-1777A>C) c.571+15A>C (n.571+15A>C) c.314-950A>C (n.314-950A>C) c.294+15A>C n.844+15A>C n.811+15A>C | gnomAD v4 |
19 | g.11105615A>G | CA044359 | LDLR | c.952+15A>G (n.952+15A>G) c.694+15A>G (n.694+15A>G) c.948+15A>G c.314-1777A>G (n.314-1777A>G) c.571+15A>G (n.571+15A>G) c.314-950A>G (n.314-950A>G) c.294+15A>G n.844+15A>G n.811+15A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105615A>T | CA993532671 | LDLR | c.952+15A>T (n.952+15A>T) c.694+15A>T (n.694+15A>T) c.948+15A>T c.314-1777A>T (n.314-1777A>T) c.571+15A>T (n.571+15A>T) c.314-950A>T (n.314-950A>T) c.294+15A>T n.844+15A>T n.811+15A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105616G>T | CA2582473413 | LDLR | c.952+16G>T (n.952+16G>T) c.694+16G>T (n.694+16G>T) c.948+16G>T c.314-1776G>T (n.314-1776G>T) c.571+16G>T (n.571+16G>T) c.314-949G>T (n.314-949G>T) c.294+16G>T n.844+16G>T n.811+16G>T | gnomAD v4 |
19 | g.11105617_11105618insTTGGGGGGGGGCCTGG | CA2582473411 | LDLR | c.952+17_952+18insTTGGGGGGGGGCCTGG (n.952+17_952+18insTTGGGGGGGGGCCTGG) c.694+17_694+18insTTGGGGGGGGGCCTGG (n.694+17_694+18insTTGGGGGGGGGCCTGG) c.948+17_948+18insTTGGGGGGGGGCCTGG c.314-1775_314-1774insTTGGGGGGGGGCCTGG (n.314-1775_314-1774insTTGGGGGGGGGCCTGG) c.571+17_571+18insTTGGGGGGGGGCCTGG (n.571+17_571+18insTTGGGGGGGGGCCTGG) c.314-948_314-947insTTGGGGGGGGGCCTGG (n.314-948_314-947insTTGGGGGGGGGCCTGG) c.294+17_294+18insTTGGGGGGGGGCCTGG n.844+17_844+18insTTGGGGGGGGGCCTGG n.811+17_811+18insTTGGGGGGGGGCCTGG | gnomAD v4 |
19 | g.11105618_11105619insGGGGG | CA2839540867 | LDLR | c.952+18_952+19insGGGGG (n.952+18_952+19insGGGGG) c.694+18_694+19insGGGGG (n.694+18_694+19insGGGGG) c.948+18_948+19insGGGGG c.314-1774_314-1773insGGGGG (n.314-1774_314-1773insGGGGG) c.571+18_571+19insGGGGG (n.571+18_571+19insGGGGG) c.314-947_314-946insGGGGG (n.314-947_314-946insGGGGG) c.294+18_294+19insGGGGG n.844+18_844+19insGGGGG n.811+18_811+19insGGGGG | |
19 | g.11105618_11105619insGGGGGGCCTGGG | CA2582473410 | LDLR | c.952+18_952+19insGGGGGGCCTGGG (n.952+18_952+19insGGGGGGCCTGGG) c.694+18_694+19insGGGGGGCCTGGG (n.694+18_694+19insGGGGGGCCTGGG) c.948+18_948+19insGGGGGGCCTGGG c.314-1774_314-1773insGGGGGGCCTGGG (n.314-1774_314-1773insGGGGGGCCTGGG) c.571+18_571+19insGGGGGGCCTGGG (n.571+18_571+19insGGGGGGCCTGGG) c.314-947_314-946insGGGGGGCCTGGG (n.314-947_314-946insGGGGGGCCTGGG) c.294+18_294+19insGGGGGGCCTGGG n.844+18_844+19insGGGGGGCCTGGG n.811+18_811+19insGGGGGGCCTGGG | gnomAD v4 |
19 | g.11105619_11105624del | CA2582473412 | LDLR | c.952+19_952+24del (n.952+19_952+24del) c.694+19_694+24del (n.694+19_694+24del) c.948+19_948+24del c.314-1773_314-1768del (n.314-1773_314-1768del) c.571+19_571+24del (n.571+19_571+24del) c.314-946_314-941del (n.314-946_314-941del) c.294+19_294+24del n.844+19_844+24del n.811+19_811+24del | gnomAD v4 |
19 | g.11105617G>A | CA631763670 | LDLR | c.952+17G>A (n.952+17G>A) c.694+17G>A (n.694+17G>A) c.948+17G>A c.314-1775G>A (n.314-1775G>A) c.571+17G>A (n.571+17G>A) c.314-948G>A (n.314-948G>A) c.294+17G>A n.844+17G>A n.811+17G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105617G= | CA2322767663 | LDLR | c.952+17G= (n.952+17G=) c.694+17G= (n.694+17G=) c.948+17G= c.314-1775G= (n.314-1775G=) c.571+17G= (n.571+17G=) c.314-948G= (n.314-948G=) c.294+17G= n.844+17G= n.811+17G= | |
19 | g.11105617G>T | CA2582473414 | LDLR | c.952+17G>T (n.952+17G>T) c.694+17G>T (n.694+17G>T) c.948+17G>T c.314-1775G>T (n.314-1775G>T) c.571+17G>T (n.571+17G>T) c.314-948G>T (n.314-948G>T) c.294+17G>T n.844+17G>T n.811+17G>T | gnomAD v4 |
19 | g.11105618G>A | CA2576625839 | LDLR | c.952+18G>A (n.952+18G>A) c.694+18G>A (n.694+18G>A) c.948+18G>A c.314-1774G>A (n.314-1774G>A) c.571+18G>A (n.571+18G>A) c.314-947G>A (n.314-947G>A) c.294+18G>A n.844+18G>A n.811+18G>A | gnomAD v4 |
19 | g.11105619T>C | CA2582473415 | LDLR | c.952+19T>C (n.952+19T>C) c.694+19T>C (n.694+19T>C) c.948+19T>C c.314-1773T>C (n.314-1773T>C) c.571+19T>C (n.571+19T>C) c.314-946T>C (n.314-946T>C) c.294+19T>C n.844+19T>C n.811+19T>C | dbSNP gnomAD v4 |
19 | g.11105619T>G | CA993532674 | LDLR | c.952+19T>G (n.952+19T>G) c.694+19T>G (n.694+19T>G) c.948+19T>G c.314-1773T>G (n.314-1773T>G) c.571+19T>G (n.571+19T>G) c.314-946T>G (n.314-946T>G) c.294+19T>G n.844+19T>G n.811+19T>G | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105619T= | CA2322767664 | LDLR | c.952+19T= (n.952+19T=) c.694+19T= (n.694+19T=) c.948+19T= c.314-1773T= (n.314-1773T=) c.571+19T= (n.571+19T=) c.314-946T= (n.314-946T=) c.294+19T= n.844+19T= n.811+19T= | |
19 | g.11105620G>A | CA2582473417 | LDLR | c.952+20G>A (n.952+20G>A) c.694+20G>A (n.694+20G>A) c.948+20G>A c.314-1772G>A (n.314-1772G>A) c.571+20G>A (n.571+20G>A) c.314-945G>A (n.314-945G>A) c.294+20G>A n.844+20G>A n.811+20G>A | gnomAD v4 |
19 | g.11105620G>T | CA2582473418 | LDLR | c.952+20G>T (n.952+20G>T) c.694+20G>T (n.694+20G>T) c.948+20G>T c.314-1772G>T (n.314-1772G>T) c.571+20G>T (n.571+20G>T) c.314-945G>T (n.314-945G>T) c.294+20G>T n.844+20G>T n.811+20G>T | gnomAD v4 |
19 | g.11105623_11105624insCCGGGGGGGGG | CA2582473423 | LDLR | c.952+23_952+24insCCGGGGGGGGG (n.952+23_952+24insCCGGGGGGGGG) c.694+23_694+24insCCGGGGGGGGG (n.694+23_694+24insCCGGGGGGGGG) c.948+23_948+24insCCGGGGGGGGG c.314-1769_314-1768insCCGGGGGGGGG (n.314-1769_314-1768insCCGGGGGGGGG) c.571+23_571+24insCCGGGGGGGGG (n.571+23_571+24insCCGGGGGGGGG) c.314-942_314-941insCCGGGGGGGGG (n.314-942_314-941insCCGGGGGGGGG) c.294+23_294+24insCCGGGGGGGGG n.844+23_844+24insCCGGGGGGGGG n.811+23_811+24insCCGGGGGGGGG | gnomAD v4 |
19 | g.11105624dup | CA2740091873 | LDLR | c.952+24dup (n.952+24dup) c.694+24dup (n.694+24dup) c.948+24dup c.314-1768dup (n.314-1768dup) c.571+24dup (n.571+24dup) c.314-941dup (n.314-941dup) c.294+24dup n.844+24dup n.811+24dup | ClinVar |
19 | g.11105621_11105624dup | CA2582473419 | LDLR | c.952+21_952+24dup (n.952+21_952+24dup) c.694+21_694+24dup (n.694+21_694+24dup) c.948+21_948+24dup c.314-1771_314-1768dup (n.314-1771_314-1768dup) c.571+21_571+24dup (n.571+21_571+24dup) c.314-944_314-941dup (n.314-944_314-941dup) c.294+21_294+24dup n.844+21_844+24dup n.811+21_811+24dup | gnomAD v4 |
19 | g.11105624del | CA2582473421 | LDLR | c.952+24del (n.952+24del) c.694+24del (n.694+24del) c.948+24del c.314-1768del (n.314-1768del) c.571+24del (n.571+24del) c.314-941del (n.314-941del) c.294+24del n.844+24del n.811+24del | gnomAD v4 |
19 | g.11105622_11105624del | CA2582473422 | LDLR | c.952+22_952+24del (n.952+22_952+24del) c.694+22_694+24del (n.694+22_694+24del) c.948+22_948+24del c.314-1770_314-1768del (n.314-1770_314-1768del) c.571+22_571+24del (n.571+22_571+24del) c.314-943_314-941del (n.314-943_314-941del) c.294+22_294+24del n.844+22_844+24del n.811+22_811+24del | gnomAD v4 |
19 | g.11105624_11105629del | CA2582473416 | LDLR | c.952+24_952+29del (n.952+24_952+29del) c.694+24_694+29del (n.694+24_694+29del) c.948+24_948+29del c.314-1768_314-1763del (n.314-1768_314-1763del) c.571+24_571+29del (n.571+24_571+29del) c.314-941_314-936del (n.314-941_314-936del) c.294+24_294+29del n.844+24_844+29del n.811+24_811+29del | gnomAD v4 |
19 | g.11105621G>A | CA2582473425 | LDLR | c.952+21G>A (n.952+21G>A) c.694+21G>A (n.694+21G>A) c.948+21G>A c.314-1771G>A (n.314-1771G>A) c.571+21G>A (n.571+21G>A) c.314-944G>A (n.314-944G>A) c.294+21G>A n.844+21G>A n.811+21G>A | gnomAD v4 |
19 | g.11105621G>T | CA2582473426 | LDLR | c.952+21G>T (n.952+21G>T) c.694+21G>T (n.694+21G>T) c.948+21G>T c.314-1771G>T (n.314-1771G>T) c.571+21G>T (n.571+21G>T) c.314-944G>T (n.314-944G>T) c.294+21G>T n.844+21G>T n.811+21G>T | gnomAD v4 |
19 | g.11105627_11105631del | CA2582473424 | LDLR | c.952+27_952+31del (n.952+27_952+31del) c.694+27_694+31del (n.694+27_694+31del) c.948+27_948+31del c.314-1765_314-1761del (n.314-1765_314-1761del) c.571+27_571+31del (n.571+27_571+31del) c.314-938_314-934del (n.314-938_314-934del) c.294+27_294+31del n.844+27_844+31del n.811+27_811+31del | gnomAD v4 |
19 | g.11105622G>A | CA2582473427 | LDLR | c.952+22G>A (n.952+22G>A) c.694+22G>A (n.694+22G>A) c.948+22G>A c.314-1770G>A (n.314-1770G>A) c.571+22G>A (n.571+22G>A) c.314-943G>A (n.314-943G>A) c.294+22G>A n.844+22G>A n.811+22G>A | gnomAD v4 |
19 | g.11105622G>T | CA2582473428 | LDLR | c.952+22G>T (n.952+22G>T) c.694+22G>T (n.694+22G>T) c.948+22G>T c.314-1770G>T (n.314-1770G>T) c.571+22G>T (n.571+22G>T) c.314-943G>T (n.314-943G>T) c.294+22G>T n.844+22G>T n.811+22G>T | gnomAD v4 |
19 | g.11105623G>A | CA631763671 | LDLR | c.952+23G>A (n.952+23G>A) c.694+23G>A (n.694+23G>A) c.948+23G>A c.314-1769G>A (n.314-1769G>A) c.571+23G>A (n.571+23G>A) c.314-942G>A (n.314-942G>A) c.294+23G>A n.844+23G>A n.811+23G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105623G= | CA2322767666 | LDLR | c.952+23G= (n.952+23G=) c.694+23G= (n.694+23G=) c.948+23G= c.314-1769G= (n.314-1769G=) c.571+23G= (n.571+23G=) c.314-942G= (n.314-942G=) c.294+23G= n.844+23G= n.811+23G= | |
19 | g.11105623G>T | CA2322767665 | LDLR | c.952+23G>T (n.952+23G>T) c.694+23G>T (n.694+23G>T) c.948+23G>T c.314-1769G>T (n.314-1769G>T) c.571+23G>T (n.571+23G>T) c.314-942G>T (n.314-942G>T) c.294+23G>T n.844+23G>T n.811+23G>T | dbSNP gnomAD v4 |
19 | g.11105624G>A | CA044374 | LDLR | c.952+24G>A (n.952+24G>A) c.694+24G>A (n.694+24G>A) c.948+24G>A c.314-1768G>A (n.314-1768G>A) c.571+24G>A (n.571+24G>A) c.314-941G>A (n.314-941G>A) c.294+24G>A n.844+24G>A n.811+24G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105624G>C | CA783243259 | LDLR | c.952+24G>C (n.952+24G>C) c.694+24G>C (n.694+24G>C) c.948+24G>C c.314-1768G>C (n.314-1768G>C) c.571+24G>C (n.571+24G>C) c.314-941G>C (n.314-941G>C) c.294+24G>C n.844+24G>C n.811+24G>C | dbSNP gnomAD v4 |
19 | g.11105624G= | CA2322767667 | LDLR | c.952+24G= (n.952+24G=) c.694+24G= (n.694+24G=) c.948+24G= c.314-1768G= (n.314-1768G=) c.571+24G= (n.571+24G=) c.314-941G= (n.314-941G=) c.294+24G= n.844+24G= n.811+24G= | |
19 | g.11105624G>T | CA2322767668 | LDLR | c.952+24G>T (n.952+24G>T) c.694+24G>T (n.694+24G>T) c.948+24G>T c.314-1768G>T (n.314-1768G>T) c.571+24G>T (n.571+24G>T) c.314-941G>T (n.314-941G>T) c.294+24G>T n.844+24G>T n.811+24G>T | dbSNP gnomAD v4 |
19 | g.11105625del | CA2813589968 | LDLR | c.952+25del (n.952+25del) c.694+25del (n.694+25del) c.948+25del c.314-1767del (n.314-1767del) c.571+25del (n.571+25del) c.314-940del (n.314-940del) c.294+25del n.844+25del n.811+25del | |
19 | g.11105625C>A | CA2582473429 | LDLR | c.952+25C>A (n.952+25C>A) c.694+25C>A (n.694+25C>A) c.948+25C>A c.314-1767C>A (n.314-1767C>A) c.571+25C>A (n.571+25C>A) c.314-940C>A (n.314-940C>A) c.294+25C>A n.844+25C>A n.811+25C>A | gnomAD v4 |
19 | g.11105625C= | CA2322767669 | LDLR | c.952+25C= (n.952+25C=) c.694+25C= (n.694+25C=) c.948+25C= c.314-1767C= (n.314-1767C=) c.571+25C= (n.571+25C=) c.314-940C= (n.314-940C=) c.294+25C= n.844+25C= n.811+25C= | |
19 | g.11105625C>G | CA2582473430 | LDLR | c.952+25C>G (n.952+25C>G) c.694+25C>G (n.694+25C>G) c.948+25C>G c.314-1767C>G (n.314-1767C>G) c.571+25C>G (n.571+25C>G) c.314-940C>G (n.314-940C>G) c.294+25C>G n.844+25C>G n.811+25C>G | gnomAD v4 |
19 | g.11105625C>T | CA044382 | LDLR | c.952+25C>T (n.952+25C>T) c.694+25C>T (n.694+25C>T) c.948+25C>T c.314-1767C>T (n.314-1767C>T) c.571+25C>T (n.571+25C>T) c.314-940C>T (n.314-940C>T) c.294+25C>T n.844+25C>T n.811+25C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105626G>A | CA631763672 | LDLR | c.952+26G>A (n.952+26G>A) c.694+26G>A (n.694+26G>A) c.948+26G>A c.314-1766G>A (n.314-1766G>A) c.571+26G>A (n.571+26G>A) c.314-939G>A (n.314-939G>A) c.294+26G>A n.844+26G>A n.811+26G>A | dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.11105626G>C | CA2582473432 | LDLR | c.952+26G>C (n.952+26G>C) c.694+26G>C (n.694+26G>C) c.948+26G>C c.314-1766G>C (n.314-1766G>C) c.571+26G>C (n.571+26G>C) c.314-939G>C (n.314-939G>C) c.294+26G>C n.844+26G>C n.811+26G>C | gnomAD v4 |
19 | g.11105626G= | CA2322767670 | LDLR | c.952+26G= (n.952+26G=) c.694+26G= (n.694+26G=) c.948+26G= c.314-1766G= (n.314-1766G=) c.571+26G= (n.571+26G=) c.314-939G= (n.314-939G=) c.294+26G= n.844+26G= n.811+26G= | |
19 | g.11105626G>T | CA2576625840 | LDLR | c.952+26G>T (n.952+26G>T) c.694+26G>T (n.694+26G>T) c.948+26G>T c.314-1766G>T (n.314-1766G>T) c.571+26G>T (n.571+26G>T) c.314-939G>T (n.314-939G>T) c.294+26G>T n.844+26G>T n.811+26G>T | gnomAD v4 |
19 | g.11105629del | CA2582473431 | LDLR | c.952+29del (n.952+29del) c.694+29del (n.694+29del) c.948+29del c.314-1763del (n.314-1763del) c.571+29del (n.571+29del) c.314-936del (n.314-936del) c.294+29del n.844+29del n.811+29del | gnomAD v4 |
19 | g.11105627G>A | CA044393 | LDLR | c.952+27G>A (n.952+27G>A) c.694+27G>A (n.694+27G>A) c.948+27G>A c.314-1765G>A (n.314-1765G>A) c.571+27G>A (n.571+27G>A) c.314-938G>A (n.314-938G>A) c.294+27G>A n.844+27G>A n.811+27G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.11105627G= | CA2322767671 | LDLR | c.952+27G= (n.952+27G=) c.694+27G= (n.694+27G=) c.948+27G= c.314-1765G= (n.314-1765G=) c.571+27G= (n.571+27G=) c.314-938G= (n.314-938G=) c.294+27G= n.844+27G= n.811+27G= | |
19 | g.11105627G>T | CA2582473433 | LDLR | c.952+27G>T (n.952+27G>T) c.694+27G>T (n.694+27G>T) c.948+27G>T c.314-1765G>T (n.314-1765G>T) c.571+27G>T (n.571+27G>T) c.314-938G>T (n.314-938G>T) c.294+27G>T n.844+27G>T n.811+27G>T | gnomAD v4 |
19 | g.11105628G>A | CA2582473434 | LDLR | c.952+28G>A (n.952+28G>A) c.694+28G>A (n.694+28G>A) c.948+28G>A c.314-1764G>A (n.314-1764G>A) c.571+28G>A (n.571+28G>A) c.314-937G>A (n.314-937G>A) c.294+28G>A n.844+28G>A n.811+28G>A | gnomAD v4 |
19 | g.11105628G>T | CA2582473435 | LDLR | c.952+28G>T (n.952+28G>T) c.694+28G>T (n.694+28G>T) c.948+28G>T c.314-1764G>T (n.314-1764G>T) c.571+28G>T (n.571+28G>T) c.314-937G>T (n.314-937G>T) c.294+28G>T n.844+28G>T n.811+28G>T | gnomAD v4 |
19 | g.11105629G>A | CA2582473436 | LDLR | c.952+29G>A (n.952+29G>A) c.694+29G>A (n.694+29G>A) c.948+29G>A c.314-1763G>A (n.314-1763G>A) c.571+29G>A (n.571+29G>A) c.314-936G>A (n.314-936G>A) c.294+29G>A n.844+29G>A n.811+29G>A | gnomAD v4 |
19 | g.11105629G>T | CA2582473437 | LDLR | c.952+29G>T (n.952+29G>T) c.694+29G>T (n.694+29G>T) c.948+29G>T c.314-1763G>T (n.314-1763G>T) c.571+29G>T (n.571+29G>T) c.314-936G>T (n.314-936G>T) c.294+29G>T n.844+29G>T n.811+29G>T | gnomAD v4 |
19 | g.11105630C>A | CA2582473438 | LDLR | c.952+30C>A (n.952+30C>A) c.694+30C>A (n.694+30C>A) c.948+30C>A c.314-1762C>A (n.314-1762C>A) c.571+30C>A (n.571+30C>A) c.314-935C>A (n.314-935C>A) c.294+30C>A n.844+30C>A n.811+30C>A | gnomAD v4 |
19 | g.11105630C= | CA2322767672 | LDLR | c.952+30C= (n.952+30C=) c.694+30C= (n.694+30C=) c.948+30C= c.314-1762C= (n.314-1762C=) c.571+30C= (n.571+30C=) c.314-935C= (n.314-935C=) c.294+30C= n.844+30C= n.811+30C= | |
19 | g.11105630C>G | CA2576625841 | LDLR | c.952+30C>G (n.952+30C>G) c.694+30C>G (n.694+30C>G) c.948+30C>G c.314-1762C>G (n.314-1762C>G) c.571+30C>G (n.571+30C>G) c.314-935C>G (n.314-935C>G) c.294+30C>G n.844+30C>G n.811+30C>G | gnomAD v4 |
19 | g.11105630C>T | CA305298135 | LDLR | c.952+30C>T (n.952+30C>T) c.694+30C>T (n.694+30C>T) c.948+30C>T c.314-1762C>T (n.314-1762C>T) c.571+30C>T (n.571+30C>T) c.314-935C>T (n.314-935C>T) c.294+30C>T n.844+30C>T n.811+30C>T | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105631G>A | CA044404 | LDLR | c.952+31G>A (n.952+31G>A) c.694+31G>A (n.694+31G>A) c.948+31G>A c.314-1761G>A (n.314-1761G>A) c.571+31G>A (n.571+31G>A) c.314-934G>A (n.314-934G>A) c.294+31G>A n.844+31G>A n.811+31G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105631G= | CA2322767673 | LDLR | c.952+31G= (n.952+31G=) c.694+31G= (n.694+31G=) c.948+31G= c.314-1761G= (n.314-1761G=) c.571+31G= (n.571+31G=) c.314-934G= (n.314-934G=) c.294+31G= n.844+31G= n.811+31G= | |
19 | g.11105631G>T | CA2322767674 | LDLR | c.952+31G>T (n.952+31G>T) c.694+31G>T (n.694+31G>T) c.948+31G>T c.314-1761G>T (n.314-1761G>T) c.571+31G>T (n.571+31G>T) c.314-934G>T (n.314-934G>T) c.294+31G>T n.844+31G>T n.811+31G>T | dbSNP |
19 | g.11105633C>A | CA2582473439 | LDLR | c.952+33C>A (n.952+33C>A) c.694+33C>A (n.694+33C>A) c.948+33C>A c.314-1759C>A (n.314-1759C>A) c.571+33C>A (n.571+33C>A) c.314-932C>A (n.314-932C>A) c.294+33C>A n.844+33C>A n.811+33C>A | gnomAD v4 |
19 | g.11105633C>G | CA2735611141 | LDLR | c.952+33C>G (n.952+33C>G) c.694+33C>G (n.694+33C>G) c.948+33C>G c.314-1759C>G (n.314-1759C>G) c.571+33C>G (n.571+33C>G) c.314-932C>G (n.314-932C>G) c.294+33C>G n.844+33C>G n.811+33C>G | dbSNP |
19 | g.11105634C>A | CA2582473440 | LDLR | c.952+34C>A (n.952+34C>A) c.694+34C>A (n.694+34C>A) c.948+34C>A c.314-1758C>A (n.314-1758C>A) c.571+34C>A (n.571+34C>A) c.314-931C>A (n.314-931C>A) c.294+34C>A n.844+34C>A n.811+34C>A | gnomAD v4 |
19 | g.11105634C>T | CA2582473441 | LDLR | c.952+34C>T (n.952+34C>T) c.694+34C>T (n.694+34C>T) c.948+34C>T c.314-1758C>T (n.314-1758C>T) c.571+34C>T (n.571+34C>T) c.314-931C>T (n.314-931C>T) c.294+34C>T n.844+34C>T n.811+34C>T | gnomAD v4 |
19 | g.11105635T>A | CA2582473443 | LDLR | c.952+35T>A (n.952+35T>A) c.694+35T>A (n.694+35T>A) c.948+35T>A c.314-1757T>A (n.314-1757T>A) c.571+35T>A (n.571+35T>A) c.314-930T>A (n.314-930T>A) c.294+35T>A n.844+35T>A n.811+35T>A | gnomAD v4 |
19 | g.11105635T>C | CA783243271 | LDLR | c.952+35T>C (n.952+35T>C) c.694+35T>C (n.694+35T>C) c.948+35T>C c.314-1757T>C (n.314-1757T>C) c.571+35T>C (n.571+35T>C) c.314-930T>C (n.314-930T>C) c.294+35T>C n.844+35T>C n.811+35T>C | dbSNP gnomAD v4 |
19 | g.11105635T>G | CA2582473444 | LDLR | c.952+35T>G (n.952+35T>G) c.694+35T>G (n.694+35T>G) c.948+35T>G c.314-1757T>G (n.314-1757T>G) c.571+35T>G (n.571+35T>G) c.314-930T>G (n.314-930T>G) c.294+35T>G n.844+35T>G n.811+35T>G | gnomAD v4 |
19 | g.11105635T= | CA2322767675 | LDLR | c.952+35T= (n.952+35T=) c.694+35T= (n.694+35T=) c.948+35T= c.314-1757T= (n.314-1757T=) c.571+35T= (n.571+35T=) c.314-930T= (n.314-930T=) c.294+35T= n.844+35T= n.811+35T= | |
19 | g.11105636_11105637del | CA2582473442 | LDLR | c.952+36_952+37del (n.952+36_952+37del) c.694+36_694+37del (n.694+36_694+37del) c.948+36_948+37del c.314-1756_314-1755del (n.314-1756_314-1755del) c.571+36_571+37del (n.571+36_571+37del) c.314-929_314-928del (n.314-929_314-928del) c.294+36_294+37del n.844+36_844+37del n.811+36_811+37del | gnomAD v4 |
19 | g.11105636A>G | CA2582473445 | LDLR | c.952+36A>G (n.952+36A>G) c.694+36A>G (n.694+36A>G) c.948+36A>G c.314-1756A>G (n.314-1756A>G) c.571+36A>G (n.571+36A>G) c.314-929A>G (n.314-929A>G) c.294+36A>G n.844+36A>G n.811+36A>G | gnomAD v4 |
19 | g.11105637T>C | CA2582473446 | LDLR | c.952+37T>C (n.952+37T>C) c.694+37T>C (n.694+37T>C) c.948+37T>C c.314-1755T>C (n.314-1755T>C) c.571+37T>C (n.571+37T>C) c.314-928T>C (n.314-928T>C) c.294+37T>C n.844+37T>C n.811+37T>C | gnomAD v4 |
19 | g.11105637T>G | CA2525405559 | LDLR | c.952+37T>G (n.952+37T>G) c.694+37T>G (n.694+37T>G) c.948+37T>G c.314-1755T>G (n.314-1755T>G) c.571+37T>G (n.571+37T>G) c.314-928T>G (n.314-928T>G) c.294+37T>G n.844+37T>G n.811+37T>G | gnomAD v4 |
19 | g.11105638C>A | CA2582473447 | LDLR | c.952+38C>A (n.952+38C>A) c.694+38C>A (n.694+38C>A) c.948+38C>A c.314-1754C>A (n.314-1754C>A) c.571+38C>A (n.571+38C>A) c.314-927C>A (n.314-927C>A) c.294+38C>A n.844+38C>A n.811+38C>A | gnomAD v4 |
19 | g.11105639A>G | CA2582473448 | LDLR | c.952+39A>G (n.952+39A>G) c.694+39A>G (n.694+39A>G) c.948+39A>G c.314-1753A>G (n.314-1753A>G) c.571+39A>G (n.571+39A>G) c.314-926A>G (n.314-926A>G) c.294+39A>G n.844+39A>G n.811+39A>G | gnomAD v4 |
19 | g.11105640C>A | CA044428 | LDLR | c.952+40C>A (n.952+40C>A) c.694+40C>A (n.694+40C>A) c.948+40C>A c.314-1752C>A (n.314-1752C>A) c.571+40C>A (n.571+40C>A) c.314-925C>A (n.314-925C>A) c.294+40C>A n.844+40C>A n.811+40C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105640C= | CA2322767676 | LDLR | c.952+40C= (n.952+40C=) c.694+40C= (n.694+40C=) c.948+40C= c.314-1752C= (n.314-1752C=) c.571+40C= (n.571+40C=) c.314-925C= (n.314-925C=) c.294+40C= n.844+40C= n.811+40C= | |
19 | g.11105640C>T | CA044434 | LDLR | c.952+40C>T (n.952+40C>T) c.694+40C>T (n.694+40C>T) c.948+40C>T c.314-1752C>T (n.314-1752C>T) c.571+40C>T (n.571+40C>T) c.314-925C>T (n.314-925C>T) c.294+40C>T n.844+40C>T n.811+40C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105641C>A | CA2582473449 | LDLR | c.952+41C>A (n.952+41C>A) c.694+41C>A (n.694+41C>A) c.948+41C>A c.314-1751C>A (n.314-1751C>A) c.571+41C>A (n.571+41C>A) c.314-924C>A (n.314-924C>A) c.294+41C>A n.844+41C>A n.811+41C>A | gnomAD v4 |
19 | g.11105641C>T | CA2576625842 | LDLR | c.952+41C>T (n.952+41C>T) c.694+41C>T (n.694+41C>T) c.948+41C>T c.314-1751C>T (n.314-1751C>T) c.571+41C>T (n.571+41C>T) c.314-924C>T (n.314-924C>T) c.294+41C>T n.844+41C>T n.811+41C>T | gnomAD v4 |
19 | g.11105642T>C | CA2582473450 | LDLR | c.952+42T>C (n.952+42T>C) c.694+42T>C (n.694+42T>C) c.948+42T>C c.314-1750T>C (n.314-1750T>C) c.571+42T>C (n.571+42T>C) c.314-923T>C (n.314-923T>C) c.294+42T>C n.844+42T>C n.811+42T>C | dbSNP gnomAD v4 |
19 | g.11105643G>A | CA044448 | LDLR | c.952+43G>A (n.952+43G>A) c.694+43G>A (n.694+43G>A) c.948+43G>A c.314-1749G>A (n.314-1749G>A) c.571+43G>A (n.571+43G>A) c.314-922G>A (n.314-922G>A) c.294+43G>A n.844+43G>A n.811+43G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105643G= | CA2322767677 | LDLR | c.952+43G= (n.952+43G=) c.694+43G= (n.694+43G=) c.948+43G= c.314-1749G= (n.314-1749G=) c.571+43G= (n.571+43G=) c.314-922G= (n.314-922G=) c.294+43G= n.844+43G= n.811+43G= | |
19 | g.11105644T>C | CA044457 | LDLR | c.952+44T>C (n.952+44T>C) c.694+44T>C (n.694+44T>C) c.948+44T>C c.314-1748T>C (n.314-1748T>C) c.571+44T>C (n.571+44T>C) c.314-921T>C (n.314-921T>C) c.294+44T>C n.844+44T>C n.811+44T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105644T>G | CA2582473451 | LDLR | c.952+44T>G (n.952+44T>G) c.694+44T>G (n.694+44T>G) c.948+44T>G c.314-1748T>G (n.314-1748T>G) c.571+44T>G (n.571+44T>G) c.314-921T>G (n.314-921T>G) c.294+44T>G n.844+44T>G n.811+44T>G | gnomAD v4 |
19 | g.11105644T= | CA2322767678 | LDLR | c.952+44T= (n.952+44T=) c.694+44T= (n.694+44T=) c.948+44T= c.314-1748T= (n.314-1748T=) c.571+44T= (n.571+44T=) c.314-921T= (n.314-921T=) c.294+44T= n.844+44T= n.811+44T= | |
19 | g.11105645C>A | CA2582473452 | LDLR | c.952+45C>A (n.952+45C>A) c.694+45C>A (n.694+45C>A) c.948+45C>A c.314-1747C>A (n.314-1747C>A) c.571+45C>A (n.571+45C>A) c.314-920C>A (n.314-920C>A) c.294+45C>A n.844+45C>A n.811+45C>A | gnomAD v4 |
19 | g.11105645C>T | CA2582473453 | LDLR | c.952+45C>T (n.952+45C>T) c.694+45C>T (n.694+45C>T) c.948+45C>T c.314-1747C>T (n.314-1747C>T) c.571+45C>T (n.571+45C>T) c.314-920C>T (n.314-920C>T) c.294+45C>T n.844+45C>T n.811+45C>T | gnomAD v4 |
19 | g.11105646C>A | CA305298139 | LDLR | c.952+46C>A (n.952+46C>A) c.694+46C>A (n.694+46C>A) c.948+46C>A c.314-1746C>A (n.314-1746C>A) c.571+46C>A (n.571+46C>A) c.314-919C>A (n.314-919C>A) c.294+46C>A n.844+46C>A n.811+46C>A | dbSNP gnomAD v4 |
19 | g.11105646C= | CA2322767679 | LDLR | c.952+46C= (n.952+46C=) c.694+46C= (n.694+46C=) c.948+46C= c.314-1746C= (n.314-1746C=) c.571+46C= (n.571+46C=) c.314-919C= (n.314-919C=) c.294+46C= n.844+46C= n.811+46C= | |
19 | g.11105646C>T | CA2582473454 | LDLR | c.952+46C>T (n.952+46C>T) c.694+46C>T (n.694+46C>T) c.948+46C>T c.314-1746C>T (n.314-1746C>T) c.571+46C>T (n.571+46C>T) c.314-919C>T (n.314-919C>T) c.294+46C>T n.844+46C>T n.811+46C>T | gnomAD v4 |
19 | g.11105647C>A | CA2576625843 | LDLR | c.952+47C>A (n.952+47C>A) c.694+47C>A (n.694+47C>A) c.948+47C>A c.314-1745C>A (n.314-1745C>A) c.571+47C>A (n.571+47C>A) c.314-918C>A (n.314-918C>A) c.294+47C>A n.844+47C>A n.811+47C>A | gnomAD v4 |
19 | g.11105648T>C | CA2582473456 | LDLR | c.952+48T>C (n.952+48T>C) c.694+48T>C (n.694+48T>C) c.948+48T>C c.314-1744T>C (n.314-1744T>C) c.571+48T>C (n.571+48T>C) c.314-917T>C (n.314-917T>C) c.294+48T>C n.844+48T>C n.811+48T>C | gnomAD v4 |
19 | g.11105648dup | CA2582473455 | LDLR | c.952+48dup (n.952+48dup) c.694+48dup (n.694+48dup) c.948+48dup c.314-1744dup (n.314-1744dup) c.571+48dup (n.571+48dup) c.314-917dup (n.314-917dup) c.294+48dup n.844+48dup n.811+48dup | gnomAD v4 |
19 | g.11105649G>A | CA2582473457 | LDLR | c.952+49G>A (n.952+49G>A) c.694+49G>A (n.694+49G>A) c.948+49G>A c.314-1743G>A (n.314-1743G>A) c.571+49G>A (n.571+49G>A) c.314-916G>A (n.314-916G>A) c.294+49G>A n.844+49G>A n.811+49G>A | gnomAD v4 |
19 | g.11105649G>C | CA631763673 | LDLR | c.952+49G>C (n.952+49G>C) c.694+49G>C (n.694+49G>C) c.948+49G>C c.314-1743G>C (n.314-1743G>C) c.571+49G>C (n.571+49G>C) c.314-916G>C (n.314-916G>C) c.294+49G>C n.844+49G>C n.811+49G>C | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105649G= | CA2322767680 | LDLR | c.952+49G= (n.952+49G=) c.694+49G= (n.694+49G=) c.948+49G= c.314-1743G= (n.314-1743G=) c.571+49G= (n.571+49G=) c.314-916G= (n.314-916G=) c.294+49G= n.844+49G= n.811+49G= | |
19 | g.11105649G>T | CA2582473463 | LDLR | c.952+49G>T (n.952+49G>T) c.694+49G>T (n.694+49G>T) c.948+49G>T c.314-1743G>T (n.314-1743G>T) c.571+49G>T (n.571+49G>T) c.314-916G>T (n.314-916G>T) c.294+49G>T n.844+49G>T n.811+49G>T | gnomAD v4 |
19 | g.11105651del | CA2576625844 | LDLR | c.952+51del (n.952+51del) c.694+51del (n.694+51del) c.948+51del c.314-1741del (n.314-1741del) c.571+51del (n.571+51del) c.314-914del (n.314-914del) c.294+51del n.844+51del n.811+51del | |
19 | g.11105650G>A | CA631763674 | LDLR | c.952+50G>A (n.952+50G>A) c.694+50G>A (n.694+50G>A) c.948+50G>A c.314-1742G>A (n.314-1742G>A) c.571+50G>A (n.571+50G>A) c.314-915G>A (n.314-915G>A) c.294+50G>A n.844+50G>A n.811+50G>A | dbSNP gnomAD v2 gnomAD v4 |
19 | g.11105650G= | CA2322767681 | LDLR | c.952+50G= (n.952+50G=) c.694+50G= (n.694+50G=) c.948+50G= c.314-1742G= (n.314-1742G=) c.571+50G= (n.571+50G=) c.314-915G= (n.314-915G=) c.294+50G= n.844+50G= n.811+50G= | |
19 | g.11105650G>T | CA2582473464 | LDLR | c.952+50G>T (n.952+50G>T) c.694+50G>T (n.694+50G>T) c.948+50G>T c.314-1742G>T (n.314-1742G>T) c.571+50G>T (n.571+50G>T) c.314-915G>T (n.314-915G>T) c.294+50G>T n.844+50G>T n.811+50G>T | gnomAD v4 |
19 | g.11105651G>A | CA2582473466 | LDLR | c.952+51G>A (n.952+51G>A) c.694+51G>A (n.694+51G>A) c.948+51G>A c.314-1741G>A (n.314-1741G>A) c.571+51G>A (n.571+51G>A) c.314-914G>A (n.314-914G>A) c.294+51G>A n.844+51G>A n.811+51G>A | gnomAD v4 |
19 | g.11105651G>T | CA2582473465 | LDLR | c.952+51G>T (n.952+51G>T) c.694+51G>T (n.694+51G>T) c.948+51G>T c.314-1741G>T (n.314-1741G>T) c.571+51G>T (n.571+51G>T) c.314-914G>T (n.314-914G>T) c.294+51G>T n.844+51G>T n.811+51G>T | gnomAD v4 |
19 | g.11105652C>A | CA2322767683 | LDLR | c.952+52C>A (n.952+52C>A) c.694+52C>A (n.694+52C>A) c.948+52C>A c.314-1740C>A (n.314-1740C>A) c.571+52C>A (n.571+52C>A) c.314-913C>A (n.314-913C>A) c.294+52C>A n.844+52C>A n.811+52C>A | dbSNP gnomAD v4 |
19 | g.11105652C= | CA2322767682 | LDLR | c.952+52C= (n.952+52C=) c.694+52C= (n.694+52C=) c.948+52C= c.314-1740C= (n.314-1740C=) c.571+52C= (n.571+52C=) c.314-913C= (n.314-913C=) c.294+52C= n.844+52C= n.811+52C= | |
19 | g.11105652C>G | CA2582473469 | LDLR | c.952+52C>G (n.952+52C>G) c.694+52C>G (n.694+52C>G) c.948+52C>G c.314-1740C>G (n.314-1740C>G) c.571+52C>G (n.571+52C>G) c.314-913C>G (n.314-913C>G) c.294+52C>G n.844+52C>G n.811+52C>G | gnomAD v4 |
19 | g.11105652C>T | CA2582473468 | LDLR | c.952+52C>T (n.952+52C>T) c.694+52C>T (n.694+52C>T) c.948+52C>T c.314-1740C>T (n.314-1740C>T) c.571+52C>T (n.571+52C>T) c.314-913C>T (n.314-913C>T) c.294+52C>T n.844+52C>T n.811+52C>T | gnomAD v4 |
19 | g.11105653_11105656del | CA2582473467 | LDLR | c.952+53_952+56del (n.952+53_952+56del) c.694+53_694+56del (n.694+53_694+56del) c.948+53_948+56del c.314-1739_314-1736del (n.314-1739_314-1736del) c.571+53_571+56del (n.571+53_571+56del) c.314-912_314-909del (n.314-912_314-909del) c.294+53_294+56del n.844+53_844+56del n.811+53_811+56del | gnomAD v4 |
19 | g.11105653T>C | CA2582473470 | LDLR | c.952+53T>C (n.952+53T>C) c.694+53T>C (n.694+53T>C) c.948+53T>C c.314-1739T>C (n.314-1739T>C) c.571+53T>C (n.571+53T>C) c.314-912T>C (n.314-912T>C) c.294+53T>C n.844+53T>C n.811+53T>C | gnomAD v4 |
19 | g.11105654C>A | CA2582473474 | LDLR | c.952+54C>A (n.952+54C>A) c.694+54C>A (n.694+54C>A) c.948+54C>A c.314-1738C>A (n.314-1738C>A) c.571+54C>A (n.571+54C>A) c.314-911C>A (n.314-911C>A) c.294+54C>A n.844+54C>A n.811+54C>A | gnomAD v4 |
19 | g.11105654C= | CA2322767684 | LDLR | c.952+54C= (n.952+54C=) c.694+54C= (n.694+54C=) c.948+54C= c.314-1738C= (n.314-1738C=) c.571+54C= (n.571+54C=) c.314-911C= (n.314-911C=) c.294+54C= n.844+54C= n.811+54C= | |
19 | g.11105654C>T | CA305298141 | LDLR | c.952+54C>T (n.952+54C>T) c.694+54C>T (n.694+54C>T) c.948+54C>T c.314-1738C>T (n.314-1738C>T) c.571+54C>T (n.571+54C>T) c.314-911C>T (n.314-911C>T) c.294+54C>T n.844+54C>T n.811+54C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105658dup | CA2582473475 | LDLR | c.952+58dup (n.952+58dup) c.694+58dup (n.694+58dup) c.948+58dup c.314-1734dup (n.314-1734dup) c.571+58dup (n.571+58dup) c.314-907dup (n.314-907dup) c.294+58dup n.844+58dup n.811+58dup | gnomAD v4 |
19 | g.11105658del | CA2582473471 | LDLR | c.952+58del (n.952+58del) c.694+58del (n.694+58del) c.948+58del c.314-1734del (n.314-1734del) c.571+58del (n.571+58del) c.314-907del (n.314-907del) c.294+58del n.844+58del n.811+58del | gnomAD v4 |
19 | g.11105656_11105658del | CA2582473472 | LDLR | c.952+56_952+58del (n.952+56_952+58del) c.694+56_694+58del (n.694+56_694+58del) c.948+56_948+58del c.314-1736_314-1734del (n.314-1736_314-1734del) c.571+56_571+58del (n.571+56_571+58del) c.314-909_314-907del (n.314-909_314-907del) c.294+56_294+58del n.844+56_844+58del n.811+56_811+58del | gnomAD v4 |
19 | g.11105654_11105661del | CA2582473473 | LDLR | c.952+54_952+61del (n.952+54_952+61del) c.694+54_694+61del (n.694+54_694+61del) c.948+54_948+61del c.314-1738_314-1731del (n.314-1738_314-1731del) c.571+54_571+61del (n.571+54_571+61del) c.314-911_314-904del (n.314-911_314-904del) c.294+54_294+61del n.844+54_844+61del n.811+54_811+61del | gnomAD v4 |
19 | g.11105655C>A | CA2576625845 | LDLR | c.952+55C>A (n.952+55C>A) c.694+55C>A (n.694+55C>A) c.948+55C>A c.314-1737C>A (n.314-1737C>A) c.571+55C>A (n.571+55C>A) c.314-910C>A (n.314-910C>A) c.294+55C>A n.844+55C>A n.811+55C>A | gnomAD v4 |
19 | g.11105655C= | CA2322767685 | LDLR | c.952+55C= (n.952+55C=) c.694+55C= (n.694+55C=) c.948+55C= c.314-1737C= (n.314-1737C=) c.571+55C= (n.571+55C=) c.314-910C= (n.314-910C=) c.294+55C= n.844+55C= n.811+55C= | |
19 | g.11105655C>G | CA783243280 | LDLR | c.952+55C>G (n.952+55C>G) c.694+55C>G (n.694+55C>G) c.948+55C>G c.314-1737C>G (n.314-1737C>G) c.571+55C>G (n.571+55C>G) c.314-910C>G (n.314-910C>G) c.294+55C>G n.844+55C>G n.811+55C>G | dbSNP |
19 | g.11105656C>A | CA2582473476 | LDLR | c.952+56C>A (n.952+56C>A) c.694+56C>A (n.694+56C>A) c.948+56C>A c.314-1736C>A (n.314-1736C>A) c.571+56C>A (n.571+56C>A) c.314-909C>A (n.314-909C>A) c.294+56C>A n.844+56C>A n.811+56C>A | gnomAD v4 |
19 | g.11105656C= | CA2322767686 | LDLR | c.952+56C= (n.952+56C=) c.694+56C= (n.694+56C=) c.948+56C= c.314-1736C= (n.314-1736C=) c.571+56C= (n.571+56C=) c.314-909C= (n.314-909C=) c.294+56C= n.844+56C= n.811+56C= | |
19 | g.11105656C>T | CA2322767687 | LDLR | c.952+56C>T (n.952+56C>T) c.694+56C>T (n.694+56C>T) c.948+56C>T c.314-1736C>T (n.314-1736C>T) c.571+56C>T (n.571+56C>T) c.314-909C>T (n.314-909C>T) c.294+56C>T n.844+56C>T n.811+56C>T | dbSNP gnomAD v4 |
19 | g.11105657C>A | CA2582473477 | LDLR | c.952+57C>A (n.952+57C>A) c.694+57C>A (n.694+57C>A) c.948+57C>A c.314-1735C>A (n.314-1735C>A) c.571+57C>A (n.571+57C>A) c.314-908C>A (n.314-908C>A) c.294+57C>A n.844+57C>A n.811+57C>A | gnomAD v4 |
19 | g.11105657C= | CA2322767688 | LDLR | c.952+57C= (n.952+57C=) c.694+57C= (n.694+57C=) c.948+57C= c.314-1735C= (n.314-1735C=) c.571+57C= (n.571+57C=) c.314-908C= (n.314-908C=) c.294+57C= n.844+57C= n.811+57C= | |
19 | g.11105657C>T | CA305298143 | LDLR | c.952+57C>T (n.952+57C>T) c.694+57C>T (n.694+57C>T) c.948+57C>T c.314-1735C>T (n.314-1735C>T) c.571+57C>T (n.571+57C>T) c.314-908C>T (n.314-908C>T) c.294+57C>T n.844+57C>T n.811+57C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.11105657_11105659delinsCCA | CA2322767689 | LDLR | c.952+57_952+59delinsCCA (n.952+57_952+59delinsCCA) c.694+57_694+59delinsCCA (n.694+57_694+59delinsCCA) c.948+57_948+59delinsCCA c.314-1735_314-1733delinsCCA (n.314-1735_314-1733delinsCCA) c.571+57_571+59delinsCCA (n.571+57_571+59delinsCCA) c.314-908_314-906delinsCCA (n.314-908_314-906delinsCCA) c.294+57_294+59delinsCCA n.844+57_844+59delinsCCA n.811+57_811+59delinsCCA | |
19 | g.11105658C>A | CA993532694 | LDLR | c.952+58C>A (n.952+58C>A) c.694+58C>A (n.694+58C>A) c.948+58C>A c.314-1734C>A (n.314-1734C>A) c.571+58C>A (n.571+58C>A) c.314-907C>A (n.314-907C>A) c.294+58C>A n.844+58C>A n.811+58C>A | dbSNP gnomAD v3 gnomAD v4 |
19 | g.11105658C= | CA2322767691 | LDLR | c.952+58C= (n.952+58C=) c.694+58C= (n.694+58C=) c.948+58C= c.314-1734C= (n.314-1734C=) c.571+58C= (n.571+58C=) c.314-907C= (n.314-907C=) c.294+58C= n.844+58C= n.811+58C= | |
19 | g.11105658C>G | CA2582473478 | LDLR | c.952+58C>G (n.952+58C>G) c.694+58C>G (n.694+58C>G) c.948+58C>G c.314-1734C>G (n.314-1734C>G) c.571+58C>G (n.571+58C>G) c.314-907C>G (n.314-907C>G) c.294+58C>G n.844+58C>G n.811+58C>G | gnomAD v4 |
19 | g.11105658C>T | CA2322767692 | LDLR | c.952+58C>T (n.952+58C>T) c.694+58C>T (n.694+58C>T) c.948+58C>T c.314-1734C>T (n.314-1734C>T) c.571+58C>T (n.571+58C>T) c.314-907C>T (n.314-907C>T) c.294+58C>T n.844+58C>T n.811+58C>T | dbSNP gnomAD v4 |
19 | g.11105658_11105659del | CA2322767690 | LDLR | c.952+58_952+59del (n.952+58_952+59del) c.694+58_694+59del (n.694+58_694+59del) c.948+58_948+59del c.314-1734_314-1733del (n.314-1734_314-1733del) c.571+58_571+59del (n.571+58_571+59del) c.314-907_314-906del (n.314-907_314-906del) c.294+58_294+59del n.844+58_844+59del n.811+58_811+59del | dbSNP gnomAD v4 |