| 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.11107443_11107445dup | CA10585167 | LDLR | c.1127_1129dup (p.Ile376_Thr377insIle) c.869_871dup (p.Ile290_Thr291insIle) c.1123_1125dup c.365_367dup (p.Ile122_Thr123insIle) c.746_748dup (p.Ile249_Thr250insIle) c.488_490dup (p.Ile163_Thr164insIle) n.384_386dup c.469_471dup n.1019_1021dup n.986_988dup | ClinVar dbSNP |
| 19 | g.11107443T>A | CA404080819 | LDLR | c.1127T>A (p.Ile376Asn) c.869T>A (p.Ile290Asn) c.1123T>A c.365T>A (p.Ile122Asn) c.746T>A (p.Ile249Asn) c.488T>A (p.Ile163Asn) n.384T>A c.469T>A n.1019T>A n.986T>A | |
| 19 | g.11107443T>C | CA404080822 | LDLR | c.1127T>C (p.Ile376Thr) c.869T>C (p.Ile290Thr) c.1123T>C c.365T>C (p.Ile122Thr) c.746T>C (p.Ile249Thr) c.488T>C (p.Ile163Thr) n.384T>C c.469T>C n.1019T>C n.986T>C | |
| 19 | g.11107443T>G | CA10585166 | LDLR | c.1127T>G (p.Ile376Ser) c.869T>G (p.Ile290Ser) c.1123T>G c.365T>G (p.Ile122Ser) c.746T>G (p.Ile249Ser) c.488T>G (p.Ile163Ser) n.384T>G c.469T>G n.1019T>G n.986T>G | ClinVar dbSNP |
| 19 | g.11107443T= | CA2322768599 | LDLR | c.1127T= (p.Ile376=) c.869T= (p.Ile290=) c.1123T= c.365T= (p.Ile122=) c.746T= (p.Ile249=) c.488T= (p.Ile163=) n.384T= c.469T= n.1019T= n.986T= | |
| 19 | g.11107444C>A | CA505485077 | LDLR | c.1128C>A (p.Ile376=) c.870C>A (p.Ile290=) c.1124C>A c.366C>A (p.Ile122=) c.747C>A (p.Ile249=) c.489C>A (p.Ile163=) n.385C>A c.470C>A n.1020C>A n.987C>A | |
| 19 | g.11107444C>G | CA404080827 | LDLR | c.1128C>G (p.Ile376Met) c.870C>G (p.Ile290Met) c.1124C>G c.366C>G (p.Ile122Met) c.747C>G (p.Ile249Met) c.489C>G (p.Ile163Met) n.385C>G c.470C>G n.1020C>G n.987C>G | |
| 19 | g.11107444C>T | CA505485076 | LDLR | c.1128C>T (p.Ile376=) c.870C>T (p.Ile290=) c.1124C>T c.366C>T (p.Ile122=) c.747C>T (p.Ile249=) c.489C>T (p.Ile163=) n.385C>T c.470C>T n.1020C>T n.987C>T | |
| 19 | g.11107445A= | CA2322768600 | LDLR | c.1129A= (p.Thr377=) c.871A= (p.Thr291=) c.1125A= c.367A= (p.Thr123=) c.748A= (p.Thr250=) c.490A= (p.Thr164=) n.386A= c.471A= n.1021A= n.988A= | |
| 19 | g.11107445A>C | CA029979 | LDLR | c.1129A>C (p.Thr377Pro) c.871A>C (p.Thr291Pro) c.1125A>C c.367A>C (p.Thr123Pro) c.748A>C (p.Thr250Pro) c.490A>C (p.Thr164Pro) n.386A>C c.471A>C n.1021A>C n.988A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.11107445A>G | CA404080832 | LDLR | c.1129A>G (p.Thr377Ala) c.871A>G (p.Thr291Ala) c.1125A>G c.367A>G (p.Thr123Ala) c.748A>G (p.Thr250Ala) c.490A>G (p.Thr164Ala) n.386A>G c.471A>G n.1021A>G n.988A>G | |
| 19 | g.11107445A>T | CA404080829 | LDLR | c.1129A>T (p.Thr377Ser) c.871A>T (p.Thr291Ser) c.1125A>T c.367A>T (p.Thr123Ser) c.748A>T (p.Thr250Ser) c.490A>T (p.Thr164Ser) n.386A>T c.471A>T n.1021A>T n.988A>T | |
| 19 | g.11107445_11107446delinsAC | CA2322768601 | LDLR | c.1129_1130delinsAC (p.Thr377=) c.871_872delinsAC (p.Thr291=) c.1125_1126delinsAC c.367_368delinsAC (p.Thr123=) c.748_749delinsAC (p.Thr250=) c.490_491delinsAC (p.Thr164=) n.386_387delinsAC c.471_472delinsAC n.1021_1022delinsAC n.988_989delinsAC | |
| 19 | g.11107446C>A | CA404080840 | LDLR | c.1130C>A (p.Thr377Asn) c.872C>A (p.Thr291Asn) c.1126C>A c.368C>A (p.Thr123Asn) c.749C>A (p.Thr250Asn) c.491C>A (p.Thr164Asn) n.387C>A c.472C>A n.1022C>A n.989C>A | |
| 19 | g.11107446C>G | CA404080844 | LDLR | c.1130C>G (p.Thr377Ser) c.872C>G (p.Thr291Ser) c.1126C>G c.368C>G (p.Thr123Ser) c.749C>G (p.Thr250Ser) c.491C>G (p.Thr164Ser) n.387C>G c.472C>G n.1022C>G n.989C>G | |
| 19 | g.11107446C>T | CA404080847 | LDLR | c.1130C>T (p.Thr377Ile) c.872C>T (p.Thr291Ile) c.1126C>T c.368C>T (p.Thr123Ile) c.749C>T (p.Thr250Ile) c.491C>T (p.Thr164Ile) n.387C>T c.472C>T n.1022C>T n.989C>T | |
| 19 | g.11107448del | CA10585168 | LDLR | c.1132del (p.Leu378TrpfsTer?) c.874del (p.Leu292TrpfsTer?) c.1128del c.370del (p.Leu124TrpfsTer?) c.751del (p.Leu251TrpfsTer?) c.493del (p.Leu165TrpfsTer?) n.389del c.474del n.1024del n.991del | ClinVar dbSNP |
| 19 | g.11107447C>A | CA505485078 | LDLR | c.1131C>A (p.Thr377=) c.873C>A (p.Thr291=) c.1127C>A c.369C>A (p.Thr123=) c.750C>A (p.Thr250=) c.492C>A (p.Thr164=) n.388C>A c.473C>A n.1023C>A n.990C>A | ClinVar gnomAD v4 |
| 19 | g.11107447C>G | CA505485079 | LDLR | c.1131C>G (p.Thr377=) c.873C>G (p.Thr291=) c.1127C>G c.369C>G (p.Thr123=) c.750C>G (p.Thr250=) c.492C>G (p.Thr164=) n.388C>G c.473C>G n.1023C>G n.990C>G | |
| 19 | g.11107447C>T | CA505485080 | LDLR | c.1131C>T (p.Thr377=) c.873C>T (p.Thr291=) c.1127C>T c.369C>T (p.Thr123=) c.750C>T (p.Thr250=) c.492C>T (p.Thr164=) n.388C>T c.473C>T n.1023C>T n.990C>T | ClinVar |
| 19 | g.11107448C>A | CA404080852 | LDLR | c.1132C>A (p.Leu378Met) c.874C>A (p.Leu292Met) c.1128C>A c.370C>A (p.Leu124Met) c.751C>A (p.Leu251Met) c.493C>A (p.Leu165Met) n.389C>A c.474C>A n.1024C>A n.991C>A | |
| 19 | g.11107448C= | CA2322768602 | LDLR | c.1132C= (p.Leu378=) c.874C= (p.Leu292=) c.1128C= c.370C= (p.Leu124=) c.751C= (p.Leu251=) c.493C= (p.Leu165=) n.389C= c.474C= n.1024C= n.991C= | |
| 19 | g.11107448C>G | CA404080856 | LDLR | c.1132C>G (p.Leu378Val) c.874C>G (p.Leu292Val) c.1128C>G c.370C>G (p.Leu124Val) c.751C>G (p.Leu251Val) c.493C>G (p.Leu165Val) n.389C>G c.474C>G n.1024C>G n.991C>G | |
| 19 | g.11107448C>T | CA029996 | LDLR | c.1132C>T (p.Leu378=) c.874C>T (p.Leu292=) c.1128C>T c.370C>T (p.Leu124=) c.751C>T (p.Leu251=) c.493C>T (p.Leu165=) n.389C>T c.474C>T n.1024C>T n.991C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107449T>A | CA404080868 | LDLR | c.1133T>A (p.Leu378Gln) c.875T>A (p.Leu292Gln) c.1129T>A c.371T>A (p.Leu124Gln) c.752T>A (p.Leu251Gln) c.494T>A (p.Leu165Gln) n.390T>A c.475T>A n.1025T>A n.992T>A | gnomAD v4 |
| 19 | g.11107449T>C | CA404080872 | LDLR | c.1133T>C (p.Leu378Pro) c.875T>C (p.Leu292Pro) c.1129T>C c.371T>C (p.Leu124Pro) c.752T>C (p.Leu251Pro) c.494T>C (p.Leu165Pro) n.390T>C c.475T>C n.1025T>C n.992T>C | |
| 19 | g.11107449T>G | CA404080875 | LDLR | c.1133T>G (p.Leu378Arg) c.875T>G (p.Leu292Arg) c.1129T>G c.371T>G (p.Leu124Arg) c.752T>G (p.Leu251Arg) c.494T>G (p.Leu165Arg) n.390T>G c.475T>G n.1025T>G n.992T>G | |
| 19 | g.11107449dup | CA10585169 | LDLR | c.1133dup (p.Asp379GlyfsTer8) c.875dup (p.Asp293GlyfsTer8) c.1129dup c.371dup (p.Asp125GlyfsTer8) c.752dup (p.Asp252GlyfsTer8) c.494dup (p.Asp166GlyfsTer8) n.390dup c.475dup n.1025dup n.992dup | ClinVar dbSNP |
| 19 | g.11107449_11107450delinsTG | CA2322768603 | LDLR | c.1133_1134delinsTG (p.Leu378=) c.875_876delinsTG (p.Leu292=) c.1129_1130delinsTG c.371_372delinsTG (p.Leu124=) c.752_753delinsTG (p.Leu251=) c.494_495delinsTG (p.Leu165=) n.390_391delinsTG c.475_476delinsTG n.1025_1026delinsTG n.992_993delinsTG | |
| 19 | g.11107450G>A | CA505485083 | LDLR | c.1134G>A (p.Leu378=) c.876G>A (p.Leu292=) c.1130G>A c.372G>A (p.Leu124=) c.753G>A (p.Leu251=) c.495G>A (p.Leu165=) n.391G>A c.476G>A n.1026G>A n.993G>A | dbSNP gnomAD v4 |
| 19 | g.11107450G>C | CA505485082 | LDLR | c.1134G>C (p.Leu378=) c.876G>C (p.Leu292=) c.1130G>C c.372G>C (p.Leu124=) c.753G>C (p.Leu251=) c.495G>C (p.Leu165=) n.391G>C c.476G>C n.1026G>C n.993G>C | |
| 19 | g.11107450G>T | CA505485081 | LDLR | c.1134G>T (p.Leu378=) c.876G>T (p.Leu292=) c.1130G>T c.372G>T (p.Leu124=) c.753G>T (p.Leu251=) c.495G>T (p.Leu165=) n.391G>T c.476G>T n.1026G>T n.993G>T | gnomAD v4 |
| 19 | g.11107451dup | CA2695228119 | LDLR | c.1135dup (p.Asp379GlyfsTer8) c.877dup (p.Asp293GlyfsTer8) c.1131dup c.373dup (p.Asp125GlyfsTer8) c.754dup (p.Asp252GlyfsTer8) c.496dup (p.Asp166GlyfsTer8) n.392dup c.477dup n.1027dup n.994dup | |
| 19 | g.11107451del | CA10585170 | LDLR | c.1135del (p.Asp379ThrfsTer?) c.877del (p.Asp293ThrfsTer?) c.1131del c.373del (p.Asp125ThrfsTer?) c.754del (p.Asp252ThrfsTer?) c.496del (p.Asp166ThrfsTer?) n.392del c.477del n.1027del n.994del | ClinVar dbSNP |
| 19 | g.11107451G>A | CA404080883 | LDLR | c.1135G>A (p.Asp379Asn) c.877G>A (p.Asp293Asn) c.1131G>A c.373G>A (p.Asp125Asn) c.754G>A (p.Asp252Asn) c.496G>A (p.Asp166Asn) n.392G>A c.477G>A n.1027G>A n.994G>A | |
| 19 | g.11107451G>C | CA404080886 | LDLR | c.1135G>C (p.Asp379His) c.877G>C (p.Asp293His) c.1131G>C c.373G>C (p.Asp125His) c.754G>C (p.Asp252His) c.496G>C (p.Asp166His) n.392G>C c.477G>C n.1027G>C n.994G>C |