| 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.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.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.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.11106161_11107857del | CA2573050584 | LDLR | c.953-404_1198+343del c.695-404_940+343del c.949-404_1194+343del c.314-1231_436+343del c.572-404_817+343del c.314-404_559+343del c.295-404_540+343del n.845-404_1090+343del n.812-404_1057+343del | |
| 19 | g.11106209_11108573del | CA10585092 | LDLR | c.953-356_1198+1059del c.695-356_940+1059del c.949-356_1194+1059del c.314-1183_436+1059del c.572-356_817+1059del c.314-356_559+1059del c.295-356_540+1059del n.845-356_1090+1059del n.812-356_1057+1059del | ClinVar |
| 19 | g.11106498_11114133del | CA404079331 | LDLR | c.953-67_1844+371del c.695-67_1586+371del c.695-67_1466+371del c.949-67_1840+371del c.314-894_1082+371del c.572-67_1463+371del c.314-67_1205+371del n.845-67_1736+371del n.812-67_1703+371del | ClinVar |
| 19 | g.11106564_11107515del | CA658824389 | LDLR | c.953-1_1198+1del c.695-1_940+1del c.949-1_1194+1del c.314-828_436+1del c.572-1_817+1del c.314-1_559+1del n.209_456del c.295-1_540+1del n.845-1_1090+1del n.812-1_1057+1del | ClinVar |
| 19 | g.11107413_11107422dup | CA645509270 | LDLR | c.1097_1106dup (p.Cys370GlnfsTer20) c.839_848dup (p.Cys284GlnfsTer20) c.1093_1102dup c.335_344dup (p.Cys116GlnfsTer20) c.716_725dup (p.Cys243GlnfsTer20) c.458_467dup (p.Cys157GlnfsTer20) n.354_363dup c.439_448dup n.989_998dup n.956_965dup | ClinVar dbSNP |
| 19 | g.11107414C>A | CA404080580 | LDLR | c.1098C>A (p.Asn366Lys) c.840C>A (p.Asn280Lys) c.1094C>A c.336C>A (p.Asn112Lys) c.717C>A (p.Asn239Lys) c.459C>A (p.Asn153Lys) n.355C>A c.440C>A n.990C>A n.957C>A | |
| 19 | g.11107414C= | CA2322768577 | LDLR | c.1098C= (p.Asn366=) c.840C= (p.Asn280=) c.1094C= c.336C= (p.Asn112=) c.717C= (p.Asn239=) c.459C= (p.Asn153=) n.355C= c.440C= n.990C= n.957C= | |
| 19 | g.11107414C>G | CA404080582 | LDLR | c.1098C>G (p.Asn366Lys) c.840C>G (p.Asn280Lys) c.1094C>G c.336C>G (p.Asn112Lys) c.717C>G (p.Asn239Lys) c.459C>G (p.Asn153Lys) n.355C>G c.440C>G n.990C>G n.957C>G | |
| 19 | g.11107414C>T | CA505485066 | LDLR | c.1098C>T (p.Asn366=) c.840C>T (p.Asn280=) c.1094C>T c.336C>T (p.Asn112=) c.717C>T (p.Asn239=) c.459C>T (p.Asn153=) n.355C>T c.440C>T n.990C>T n.957C>T | gnomAD v4 |
| 19 | g.11107414_11107415insT | CA645509271 | LDLR | c.1098_1099insT (p.Lys367Ter) c.840_841insT (p.Lys281Ter) c.1094_1095insT c.336_337insT (p.Lys113Ter) c.717_718insT (p.Lys240Ter) c.459_460insT (p.Lys154Ter) n.355_356insT c.440_441insT n.990_991insT n.957_958insT | ClinVar dbSNP |
| 19 | g.11107415A>C | CA404080592 | LDLR | c.1099A>C (p.Lys367Gln) c.841A>C (p.Lys281Gln) c.1095A>C c.337A>C (p.Lys113Gln) c.718A>C (p.Lys240Gln) c.460A>C (p.Lys154Gln) n.356A>C c.441A>C n.991A>C n.958A>C | gnomAD v4 |
| 19 | g.11107415A>G | CA404080589 | LDLR | c.1099A>G (p.Lys367Glu) c.841A>G (p.Lys281Glu) c.1095A>G c.337A>G (p.Lys113Glu) c.718A>G (p.Lys240Glu) c.460A>G (p.Lys154Glu) n.356A>G c.441A>G n.991A>G n.958A>G | |
| 19 | g.11107415A>T | CA404080586 | LDLR | c.1099A>T (p.Lys367Ter) c.841A>T (p.Lys281Ter) c.1095A>T c.337A>T (p.Lys113Ter) c.718A>T (p.Lys240Ter) c.460A>T (p.Lys154Ter) n.356A>T c.441A>T n.991A>T n.958A>T | |
| 19 | g.11107416del | CA2695238669 | LDLR | c.1100del (p.Lys367SerfsTer?) c.842del (p.Lys281SerfsTer?) c.1096del c.338del (p.Lys113SerfsTer?) c.719del (p.Lys240SerfsTer?) c.461del (p.Lys154SerfsTer?) n.357del c.442del n.992del n.959del | |
| 19 | g.11107416A>C | CA404080596 | LDLR | c.1100A>C (p.Lys367Thr) c.842A>C (p.Lys281Thr) c.1096A>C c.338A>C (p.Lys113Thr) c.719A>C (p.Lys240Thr) c.461A>C (p.Lys154Thr) n.357A>C c.442A>C n.992A>C n.959A>C | |
| 19 | g.11107416A>G | CA404080599 | LDLR | c.1100A>G (p.Lys367Arg) c.842A>G (p.Lys281Arg) c.1096A>G c.338A>G (p.Lys113Arg) c.719A>G (p.Lys240Arg) c.461A>G (p.Lys154Arg) n.357A>G c.442A>G n.992A>G n.959A>G | |
| 19 | g.11107416A>T | CA404080600 | LDLR | c.1100A>T (p.Lys367Met) c.842A>T (p.Lys281Met) c.1096A>T c.338A>T (p.Lys113Met) c.719A>T (p.Lys240Met) c.461A>T (p.Lys154Met) n.357A>T c.442A>T n.992A>T n.959A>T | |
| 19 | g.11107417G>A | CA029857 | LDLR | c.1101G>A (p.Lys367=) c.843G>A (p.Lys281=) c.1097G>A c.339G>A (p.Lys113=) c.720G>A (p.Lys240=) c.462G>A (p.Lys154=) n.358G>A c.443G>A n.993G>A n.960G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11107417G>C | CA404080605 | LDLR | c.1101G>C (p.Lys367Asn) c.843G>C (p.Lys281Asn) c.1097G>C c.339G>C (p.Lys113Asn) c.720G>C (p.Lys240Asn) c.462G>C (p.Lys154Asn) n.358G>C c.443G>C n.993G>C n.960G>C | |
| 19 | g.11107417G= | CA2322768578 | LDLR | c.1101G= (p.Lys367=) c.843G= (p.Lys281=) c.1097G= c.339G= (p.Lys113=) c.720G= (p.Lys240=) c.462G= (p.Lys154=) n.358G= c.443G= n.993G= n.960G= | |
| 19 | g.11107417G>T | CA404080607 | LDLR | c.1101G>T (p.Lys367Asn) c.843G>T (p.Lys281Asn) c.1097G>T c.339G>T (p.Lys113Asn) c.720G>T (p.Lys240Asn) c.462G>T (p.Lys154Asn) n.358G>T c.443G>T n.993G>T n.960G>T | |
| 19 | g.11107417_11107418insGGAC | CA1139666259 | LDLR | c.1101_1102insGGAC (p.Phe368GlyfsTer20) c.843_844insGGAC (p.Phe282GlyfsTer20) c.1097_1098insGGAC c.339_340insGGAC (p.Phe114GlyfsTer20) c.720_721insGGAC (p.Phe241GlyfsTer20) c.462_463insGGAC (p.Phe155GlyfsTer20) n.358_359insGGAC c.443_444insGGAC n.993_994insGGAC n.960_961insGGAC | ClinVar dbSNP |
| 19 | g.11107418T>A | CA404080616 | LDLR | c.1102T>A (p.Phe368Ile) c.844T>A (p.Phe282Ile) c.1098T>A c.340T>A (p.Phe114Ile) c.721T>A (p.Phe241Ile) c.463T>A (p.Phe155Ile) n.359T>A c.444T>A n.994T>A n.961T>A | |
| 19 | g.11107418T>C | CA404080610 | LDLR | c.1102T>C (p.Phe368Leu) c.844T>C (p.Phe282Leu) c.1098T>C c.340T>C (p.Phe114Leu) c.721T>C (p.Phe241Leu) c.463T>C (p.Phe155Leu) n.359T>C c.444T>C n.994T>C n.961T>C | ClinVar dbSNP |
| 19 | g.11107418T>G | CA404080613 | LDLR | c.1102T>G (p.Phe368Val) c.844T>G (p.Phe282Val) c.1098T>G c.340T>G (p.Phe114Val) c.721T>G (p.Phe241Val) c.463T>G (p.Phe155Val) n.359T>G c.444T>G n.994T>G n.961T>G | gnomAD v4 |
| 19 | g.11107418T= | CA2322768579 | LDLR | c.1102T= (p.Phe368=) c.844T= (p.Phe282=) c.1098T= c.340T= (p.Phe114=) c.721T= (p.Phe241=) c.463T= (p.Phe155=) n.359T= c.444T= n.994T= n.961T= | |
| 19 | g.11107419T>A | CA404080620 | LDLR | c.1103T>A (p.Phe368Tyr) c.845T>A (p.Phe282Tyr) c.1099T>A c.341T>A (p.Phe114Tyr) c.722T>A (p.Phe241Tyr) c.464T>A (p.Phe155Tyr) n.360T>A c.445T>A n.995T>A n.962T>A | ClinVar |
| 19 | g.11107419T>C | CA404080622 | LDLR | c.1103T>C (p.Phe368Ser) c.845T>C (p.Phe282Ser) c.1099T>C c.341T>C (p.Phe114Ser) c.722T>C (p.Phe241Ser) c.464T>C (p.Phe155Ser) n.360T>C c.445T>C n.995T>C n.962T>C | ClinVar dbSNP gnomAD v4 |
| 19 | g.11107419T>G | CA404080624 | LDLR | c.1103T>G (p.Phe368Cys) c.845T>G (p.Phe282Cys) c.1099T>G c.341T>G (p.Phe114Cys) c.722T>G (p.Phe241Cys) c.464T>G (p.Phe155Cys) n.360T>G c.445T>G n.995T>G n.962T>G | ClinVar dbSNP |
| 19 | g.11107419T= | CA2322768580 | LDLR | c.1103T= (p.Phe368=) c.845T= (p.Phe282=) c.1099T= c.341T= (p.Phe114=) c.722T= (p.Phe241=) c.464T= (p.Phe155=) n.360T= c.445T= n.995T= n.962T= | |
| 19 | g.11107420C>A | CA023778 | LDLR | c.1104C>A (p.Phe368Leu) c.846C>A (p.Phe282Leu) c.1100C>A c.342C>A (p.Phe114Leu) c.723C>A (p.Phe241Leu) c.465C>A (p.Phe155Leu) n.361C>A c.446C>A n.996C>A n.963C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107420C= | CA2322768581 | LDLR | c.1104C= (p.Phe368=) c.846C= (p.Phe282=) c.1100C= c.342C= (p.Phe114=) c.723C= (p.Phe241=) c.465C= (p.Phe155=) n.361C= c.446C= n.996C= n.963C= | |
| 19 | g.11107420C>G | CA404080626 | LDLR | c.1104C>G (p.Phe368Leu) c.846C>G (p.Phe282Leu) c.1100C>G c.342C>G (p.Phe114Leu) c.723C>G (p.Phe241Leu) c.465C>G (p.Phe155Leu) n.361C>G c.446C>G n.996C>G n.963C>G | |
| 19 | g.11107420C>T | CA505485068 | LDLR | c.1104C>T (p.Phe368=) c.846C>T (p.Phe282=) c.1100C>T c.342C>T (p.Phe114=) c.723C>T (p.Phe241=) c.465C>T (p.Phe155=) n.361C>T c.446C>T n.996C>T n.963C>T | |
| 19 | g.11107421A= | CA2322768582 | LDLR | c.1105A= (p.Lys369=) c.847A= (p.Lys283=) c.1101A= c.343A= (p.Lys115=) c.724A= (p.Lys242=) c.466A= (p.Lys156=) n.362A= c.447A= n.997A= n.964A= | |
| 19 | g.11107421A>C | CA404080629 | LDLR | c.1105A>C (p.Lys369Gln) c.847A>C (p.Lys283Gln) c.1101A>C c.343A>C (p.Lys115Gln) c.724A>C (p.Lys242Gln) c.466A>C (p.Lys156Gln) n.362A>C c.447A>C n.997A>C n.964A>C | |
| 19 | g.11107421A>G | CA404080633 | LDLR | c.1105A>G (p.Lys369Glu) c.847A>G (p.Lys283Glu) c.1101A>G c.343A>G (p.Lys115Glu) c.724A>G (p.Lys242Glu) c.466A>G (p.Lys156Glu) n.362A>G c.447A>G n.997A>G n.964A>G | |
| 19 | g.11107421A>T | CA404080631 | LDLR | c.1105A>T (p.Lys369Ter) c.847A>T (p.Lys283Ter) c.1101A>T c.343A>T (p.Lys115Ter) c.724A>T (p.Lys242Ter) c.466A>T (p.Lys156Ter) n.362A>T c.447A>T n.997A>T n.964A>T | ClinVar dbSNP |
| 19 | g.11107422A>C | CA404080636 | LDLR | c.1106A>C (p.Lys369Thr) c.848A>C (p.Lys283Thr) c.1102A>C c.344A>C (p.Lys115Thr) c.725A>C (p.Lys242Thr) c.467A>C (p.Lys156Thr) n.363A>C c.448A>C n.998A>C n.965A>C | ClinVar |
| 19 | g.11107422A>G | CA404080643 | LDLR | c.1106A>G (p.Lys369Arg) c.848A>G (p.Lys283Arg) c.1102A>G c.344A>G (p.Lys115Arg) c.725A>G (p.Lys242Arg) c.467A>G (p.Lys156Arg) n.363A>G c.448A>G n.998A>G n.965A>G |