| 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 | ClinVar |
| 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.11105346_11105409delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | CA2322767386 | LDLR | c.698_761delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr233=) c.440_503delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr147=) c.694_757delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA c.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-2046_314-1983delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.317_380delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (p.Thr106=) c.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA (n.314-1219_314-1156delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA) c.40_103delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.590_653delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA n.557_620delinsCCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGA | |
| 19 | g.11105347_11105410delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | CA2322767387 | LDLR | c.699_762delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr233=) c.441_504delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr147=) c.695_758delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC c.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-2045_314-1982delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.318_381delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (p.Thr106=) c.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC (n.314-1218_314-1155delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC) c.41_104delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.591_654delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC n.558_621delinsCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGAC | |
| 19 | g.11105348_11105410del | CA16602300 | LDLR | c.700_762del (p.Cys234_Asp254del) c.442_504del (p.Cys148_Asp168del) c.696_758del c.314-2044_314-1982del (n.314-2044_314-1982del) c.319_381del (p.Cys107_Asp127del) c.314-1217_314-1155del (n.314-1217_314-1155del) c.42_104del n.592_654del n.559_621del | ClinVar dbSNP |
| 19 | g.11105348_11105410delinsA | CA645373223 | LDLR | c.700_762delinsA (p.Cys234LysfsTer11) c.442_504delinsA (p.Cys148LysfsTer11) c.696_758delinsA c.314-2044_314-1982delinsA (n.314-2044_314-1982delinsA) c.319_381delinsA (p.Cys107LysfsTer11) c.314-1217_314-1155delinsA (n.314-1217_314-1155delinsA) c.42_104delinsA n.592_654delinsA n.559_621delinsA | ClinVar dbSNP |
| 19 | g.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.11105363_11105371del | CA2695223200 | LDLR | c.715_723del (p.Phe239_Cys241del) c.457_465del (p.Phe153_Cys155del) c.711_719del c.314-2029_314-2021del (n.314-2029_314-2021del) c.334_342del (p.Phe112_Cys114del) c.314-1202_314-1194del (n.314-1202_314-1194del) c.57_65del n.607_615del n.574_582del | |
| 19 | g.11105372_11105377del | CA2580096441 | LDLR | c.724_729del (p.Asn242_Ser243del) c.466_471del (p.Asn156_Ser157del) c.720_725del c.314-2020_314-2015del (n.314-2020_314-2015del) c.343_348del (p.Asn115_Ser116del) c.314-1193_314-1188del (n.314-1193_314-1188del) c.66_71del n.616_621del n.583_588del | ClinVar |
| 19 | g.11105371C>A | CA043661 | LDLR | c.723C>A (p.Cys241Ter) c.465C>A (p.Cys155Ter) c.719C>A c.314-2021C>A (n.314-2021C>A) c.342C>A (p.Cys114Ter) c.314-1194C>A (n.314-1194C>A) c.65C>A n.615C>A n.582C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11105371C= | CA2322767405 | LDLR | c.723C= (p.Cys241=) c.465C= (p.Cys155=) c.719C= c.314-2021C= (n.314-2021C=) c.342C= (p.Cys114=) c.314-1194C= (n.314-1194C=) c.65C= n.615C= n.582C= | |
| 19 | g.11105371C>G | CA404076603 | LDLR | c.723C>G (p.Cys241Trp) c.465C>G (p.Cys155Trp) c.719C>G c.314-2021C>G (n.314-2021C>G) c.342C>G (p.Cys114Trp) c.314-1194C>G (n.314-1194C>G) c.65C>G n.615C>G n.582C>G | |
| 19 | g.11105371C>T | CA505743132 | LDLR | c.723C>T (p.Cys241=) c.465C>T (p.Cys155=) c.719C>T c.314-2021C>T (n.314-2021C>T) c.342C>T (p.Cys114=) c.314-1194C>T (n.314-1194C>T) c.65C>T n.615C>T n.582C>T | |
| 19 | g.11105371_11105372delinsCA | CA2322767406 | LDLR | c.723_724delinsCA (p.Cys241=) c.465_466delinsCA (p.Cys155=) c.719_720delinsCA c.314-2021_314-2020delinsCA (n.314-2021_314-2020delinsCA) c.342_343delinsCA (p.Cys114=) c.314-1194_314-1193delinsCA (n.314-1194_314-1193delinsCA) c.65_66delinsCA n.615_616delinsCA n.582_583delinsCA | |
| 19 | g.11105372_11105390dup | CA10584935 | LDLR | c.724_742dup (p.Pro248GlnfsTer24) c.466_484dup (p.Pro162GlnfsTer24) c.720_738dup c.314-2020_314-2002dup (n.314-2020_314-2002dup) c.343_361dup (p.Pro121GlnfsTer24) c.314-1193_314-1175dup (n.314-1193_314-1175dup) c.66_84dup n.616_634dup n.583_601dup | ClinVar dbSNP |
| 19 | g.11105372A>C | CA404076613 | LDLR | c.724A>C (p.Asn242His) c.466A>C (p.Asn156His) c.720A>C c.314-2020A>C (n.314-2020A>C) c.343A>C (p.Asn115His) c.314-1193A>C (n.314-1193A>C) c.66A>C n.616A>C n.583A>C | |
| 19 | g.11105372A>G | CA404076612 | LDLR | c.724A>G (p.Asn242Asp) c.466A>G (p.Asn156Asp) c.720A>G c.314-2020A>G (n.314-2020A>G) c.343A>G (p.Asn115Asp) c.314-1193A>G (n.314-1193A>G) c.66A>G n.616A>G n.583A>G | |
| 19 | g.11105372A>T | CA404076617 | LDLR | c.724A>T (p.Asn242Tyr) c.466A>T (p.Asn156Tyr) c.720A>T c.314-2020A>T (n.314-2020A>T) c.343A>T (p.Asn115Tyr) c.314-1193A>T (n.314-1193A>T) c.66A>T n.616A>T n.583A>T | |
| 19 | g.11105373del | CA10654845 | LDLR | c.725del (p.Asn242ThrfsTer?) c.467del (p.Asn156ThrfsTer?) c.721del c.314-2019del (n.314-2019del) c.344del (p.Asn115ThrfsTer?) c.314-1192del (n.314-1192del) c.67del n.617del n.584del | ClinVar dbSNP |
| 19 | g.11105372_11105374delinsGA | CA2497030117 | LDLR | c.724_726delinsGA (p.Asn242GlufsTer?) c.466_468delinsGA (p.Asn156GlufsTer?) c.720_722delinsGA c.314-2020_314-2018delinsGA (n.314-2020_314-2018delinsGA) c.343_345delinsGA (p.Asn115GlufsTer?) c.314-1193_314-1191delinsGA (n.314-1193_314-1191delinsGA) c.66_68delinsGA n.616_618delinsGA n.583_585delinsGA | |
| 19 | g.11105373A>C | CA404076620 | LDLR | c.725A>C (p.Asn242Thr) c.467A>C (p.Asn156Thr) c.721A>C c.314-2019A>C (n.314-2019A>C) c.344A>C (p.Asn115Thr) c.314-1192A>C (n.314-1192A>C) c.67A>C n.617A>C n.584A>C | |
| 19 | g.11105373A>G | CA404076624 | LDLR | c.725A>G (p.Asn242Ser) c.467A>G (p.Asn156Ser) c.721A>G c.314-2019A>G (n.314-2019A>G) c.344A>G (p.Asn115Ser) c.314-1192A>G (n.314-1192A>G) c.67A>G n.617A>G n.584A>G | |
| 19 | g.11105373A>T | CA404076627 | LDLR | c.725A>T (p.Asn242Ile) c.467A>T (p.Asn156Ile) c.721A>T c.314-2019A>T (n.314-2019A>T) c.344A>T (p.Asn115Ile) c.314-1192A>T (n.314-1192A>T) c.67A>T n.617A>T n.584A>T | |
| 19 | g.11105374C>A | CA404076630 | LDLR | c.726C>A (p.Asn242Lys) c.468C>A (p.Asn156Lys) c.722C>A c.314-2018C>A (n.314-2018C>A) c.345C>A (p.Asn115Lys) c.314-1191C>A (n.314-1191C>A) c.68C>A n.618C>A n.585C>A | |
| 19 | g.11105374C= | CA2322767407 | LDLR | c.726C= (p.Asn242=) c.468C= (p.Asn156=) c.722C= c.314-2018C= (n.314-2018C=) c.345C= (p.Asn115=) c.314-1191C= (n.314-1191C=) c.68C= n.618C= n.585C= | |
| 19 | g.11105374C>G | CA404076631 | LDLR | c.726C>G (p.Asn242Lys) c.468C>G (p.Asn156Lys) c.722C>G c.314-2018C>G (n.314-2018C>G) c.345C>G (p.Asn115Lys) c.314-1191C>G (n.314-1191C>G) c.68C>G n.618C>G n.585C>G | |
| 19 | g.11105374C>T | CA505743139 | LDLR | c.726C>T (p.Asn242=) c.468C>T (p.Asn156=) c.722C>T c.314-2018C>T (n.314-2018C>T) c.345C>T (p.Asn115=) c.314-1191C>T (n.314-1191C>T) c.68C>T n.618C>T n.585C>T | |
| 19 | g.11105375A>C | CA404076636 | LDLR | c.727A>C (p.Ser243Arg) c.469A>C (p.Ser157Arg) c.723A>C c.314-2017A>C (n.314-2017A>C) c.346A>C (p.Ser116Arg) c.314-1190A>C (n.314-1190A>C) c.69A>C n.619A>C n.586A>C | |
| 19 | g.11105375A>G | CA404076632 | LDLR | c.727A>G (p.Ser243Gly) c.469A>G (p.Ser157Gly) c.723A>G c.314-2017A>G (n.314-2017A>G) c.346A>G (p.Ser116Gly) c.314-1190A>G (n.314-1190A>G) c.69A>G n.619A>G n.586A>G | |
| 19 | g.11105375A>T | CA404076634 | LDLR | c.727A>T (p.Ser243Cys) c.469A>T (p.Ser157Cys) c.723A>T c.314-2017A>T (n.314-2017A>T) c.346A>T (p.Ser116Cys) c.314-1190A>T (n.314-1190A>T) c.69A>T n.619A>T n.586A>T | |
| 19 | g.11105375_11105376dup | CA916081227 | LDLR | c.727_728dup (p.Ser243ArgfsTer?) c.469_470dup (p.Ser157ArgfsTer?) c.723_724dup c.314-2017_314-2016dup (n.314-2017_314-2016dup) c.346_347dup (p.Ser116ArgfsTer?) c.314-1190_314-1189dup (n.314-1190_314-1189dup) c.69_70dup n.619_620dup n.586_587dup | ClinVar dbSNP |
| 19 | g.11105376G>A | CA404076641 | LDLR | c.728G>A (p.Ser243Asn) c.470G>A (p.Ser157Asn) c.724G>A c.314-2016G>A (n.314-2016G>A) c.347G>A (p.Ser116Asn) c.314-1189G>A (n.314-1189G>A) c.70G>A n.620G>A n.587G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.11105376G>C | CA404076643 | LDLR | c.728G>C (p.Ser243Thr) c.470G>C (p.Ser157Thr) c.724G>C c.314-2016G>C (n.314-2016G>C) c.347G>C (p.Ser116Thr) c.314-1189G>C (n.314-1189G>C) c.70G>C n.620G>C n.587G>C | |
| 19 | g.11105376G= | CA2322767408 | LDLR | c.728G= (p.Ser243=) c.470G= (p.Ser157=) c.724G= c.314-2016G= (n.314-2016G=) c.347G= (p.Ser116=) c.314-1189G= (n.314-1189G=) c.70G= n.620G= n.587G= | |
| 19 | g.11105376G>T | CA404076645 | LDLR | c.728G>T (p.Ser243Ile) c.470G>T (p.Ser157Ile) c.724G>T c.314-2016G>T (n.314-2016G>T) c.347G>T (p.Ser116Ile) c.314-1189G>T (n.314-1189G>T) c.70G>T n.620G>T n.587G>T | |
| 19 | g.11105377C>A | CA404076648 | LDLR | c.729C>A (p.Ser243Arg) c.471C>A (p.Ser157Arg) c.725C>A c.314-2015C>A (n.314-2015C>A) c.348C>A (p.Ser116Arg) c.314-1188C>A (n.314-1188C>A) c.71C>A n.621C>A n.588C>A | |
| 19 | g.11105377C>G | CA404076651 | LDLR | c.729C>G (p.Ser243Arg) c.471C>G (p.Ser157Arg) c.725C>G c.314-2015C>G (n.314-2015C>G) c.348C>G (p.Ser116Arg) c.314-1188C>G (n.314-1188C>G) c.71C>G n.621C>G n.588C>G | |
| 19 | g.11105377C>T | CA505743143 | LDLR | c.729C>T (p.Ser243=) c.471C>T (p.Ser157=) c.725C>T c.314-2015C>T (n.314-2015C>T) c.348C>T (p.Ser116=) c.314-1188C>T (n.314-1188C>T) c.71C>T n.621C>T n.588C>T | |
| 19 | g.11105377_11105378delinsCT | CA2322767409 | LDLR | c.729_730delinsCT (p.Ser243=) c.471_472delinsCT (p.Ser157=) c.725_726delinsCT c.314-2015_314-2014delinsCT (n.314-2015_314-2014delinsCT) c.348_349delinsCT (p.Ser116=) c.314-1188_314-1187delinsCT (n.314-1188_314-1187delinsCT) c.71_72delinsCT n.621_622delinsCT n.588_589delinsCT |