| 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.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.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.11107432_11107433delinsCG | CA2322768592 | LDLR | c.1116_1117delinsCG (p.Ser372=) c.858_859delinsCG (p.Ser286=) c.1112_1113delinsCG c.354_355delinsCG (p.Ser118=) c.735_736delinsCG (p.Ser245=) c.477_478delinsCG (p.Ser159=) n.373_374delinsCG c.458_459delinsCG n.1008_1009delinsCG n.975_976delinsCG | |
| 19 | g.11107433G>A | CA023782 | LDLR | c.1117G>A (p.Gly373Ser) c.859G>A (p.Gly287Ser) c.1113G>A c.355G>A (p.Gly119Ser) c.736G>A (p.Gly246Ser) c.478G>A (p.Gly160Ser) n.374G>A c.459G>A n.1009G>A n.976G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107433G>C | CA404080727 | LDLR | c.1117G>C (p.Gly373Arg) c.859G>C (p.Gly287Arg) c.1113G>C c.355G>C (p.Gly119Arg) c.736G>C (p.Gly246Arg) c.478G>C (p.Gly160Arg) n.374G>C c.459G>C n.1009G>C n.976G>C | |
| 19 | g.11107433G= | CA2322768593 | LDLR | c.1117G= (p.Gly373=) c.859G= (p.Gly287=) c.1113G= c.355G= (p.Gly119=) c.736G= (p.Gly246=) c.478G= (p.Gly160=) n.374G= c.459G= n.1009G= n.976G= | |
| 19 | g.11107433G>T | CA10585162 | LDLR | c.1117G>T (p.Gly373Cys) c.859G>T (p.Gly287Cys) c.1113G>T c.355G>T (p.Gly119Cys) c.736G>T (p.Gly246Cys) c.478G>T (p.Gly160Cys) n.374G>T c.459G>T n.1009G>T n.976G>T | ClinVar dbSNP |
| 19 | g.11107434del | CA645373254 | LDLR | c.1118del (p.Gly373AlafsTer?) c.860del (p.Gly287AlafsTer?) c.1114del c.356del (p.Gly119AlafsTer?) c.737del (p.Gly246AlafsTer?) c.479del (p.Gly160AlafsTer?) n.375del c.460del n.1010del n.977del | ClinVar dbSNP |
| 19 | g.11107434G>A | CA404080735 | LDLR | c.1118G>A (p.Gly373Asp) c.860G>A (p.Gly287Asp) c.1114G>A c.356G>A (p.Gly119Asp) c.737G>A (p.Gly246Asp) c.479G>A (p.Gly160Asp) n.375G>A c.460G>A n.1010G>A n.977G>A | |
| 19 | g.11107434G>C | CA404080741 | LDLR | c.1118G>C (p.Gly373Ala) c.860G>C (p.Gly287Ala) c.1114G>C c.356G>C (p.Gly119Ala) c.737G>C (p.Gly246Ala) c.479G>C (p.Gly160Ala) n.375G>C c.460G>C n.1010G>C n.977G>C | |
| 19 | g.11107434G>T | CA404080743 | LDLR | c.1118G>T (p.Gly373Val) c.860G>T (p.Gly287Val) c.1114G>T c.356G>T (p.Gly119Val) c.737G>T (p.Gly246Val) c.479G>T (p.Gly160Val) n.375G>T c.460G>T n.1010G>T n.977G>T | |
| 19 | g.11107435C>A | CA505485072 | LDLR | c.1119C>A (p.Gly373=) c.861C>A (p.Gly287=) c.1115C>A c.357C>A (p.Gly119=) c.738C>A (p.Gly246=) c.480C>A (p.Gly160=) n.376C>A c.461C>A n.1011C>A n.978C>A | |
| 19 | g.11107435C= | CA2322768594 | LDLR | c.1119C= (p.Gly373=) c.861C= (p.Gly287=) c.1115C= c.357C= (p.Gly119=) c.738C= (p.Gly246=) c.480C= (p.Gly160=) n.376C= c.461C= n.1011C= n.978C= | |
| 19 | g.11107435C>G | CA505485073 | LDLR | c.1119C>G (p.Gly373=) c.861C>G (p.Gly287=) c.1115C>G c.357C>G (p.Gly119=) c.738C>G (p.Gly246=) c.480C>G (p.Gly160=) n.376C>G c.461C>G n.1011C>G n.978C>G | |
| 19 | g.11107435C>T | CA029955 | LDLR | c.1119C>T (p.Gly373=) c.861C>T (p.Gly287=) c.1115C>T c.357C>T (p.Gly119=) c.738C>T (p.Gly246=) c.480C>T (p.Gly160=) n.376C>T c.461C>T n.1011C>T n.978C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.11107436G>A | CA023783 | LDLR | c.1120G>A (p.Glu374Lys) c.862G>A (p.Glu288Lys) c.1116G>A c.358G>A (p.Glu120Lys) c.739G>A (p.Glu247Lys) c.481G>A (p.Glu161Lys) n.377G>A c.462G>A n.1012G>A n.979G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.11107436G>C | CA404080752 | LDLR | c.1120G>C (p.Glu374Gln) c.862G>C (p.Glu288Gln) c.1116G>C c.358G>C (p.Glu120Gln) c.739G>C (p.Glu247Gln) c.481G>C (p.Glu161Gln) n.377G>C c.462G>C n.1012G>C n.979G>C | |
| 19 | g.11107436G= | CA2322768595 | LDLR | c.1120G= (p.Glu374=) c.862G= (p.Glu288=) c.1116G= c.358G= (p.Glu120=) c.739G= (p.Glu247=) c.481G= (p.Glu161=) n.377G= c.462G= n.1012G= n.979G= | |
| 19 | g.11107436G>T | CA10585163 | LDLR | c.1120G>T (p.Glu374Ter) c.862G>T (p.Glu288Ter) c.1116G>T c.358G>T (p.Glu120Ter) c.739G>T (p.Glu247Ter) c.481G>T (p.Glu161Ter) n.377G>T c.462G>T n.1012G>T n.979G>T | ClinVar dbSNP |
| 19 | g.11107437A>C | CA404080759 | LDLR | c.1121A>C (p.Glu374Ala) c.863A>C (p.Glu288Ala) c.1117A>C c.359A>C (p.Glu120Ala) c.740A>C (p.Glu247Ala) c.482A>C (p.Glu161Ala) n.378A>C c.463A>C n.1013A>C n.980A>C | |
| 19 | g.11107437A>G | CA404080762 | LDLR | c.1121A>G (p.Glu374Gly) c.863A>G (p.Glu288Gly) c.1117A>G c.359A>G (p.Glu120Gly) c.740A>G (p.Glu247Gly) c.482A>G (p.Glu161Gly) n.378A>G c.463A>G n.1013A>G n.980A>G | |
| 19 | g.11107437A>T | CA404080766 | LDLR | c.1121A>T (p.Glu374Val) c.863A>T (p.Glu288Val) c.1117A>T c.359A>T (p.Glu120Val) c.740A>T (p.Glu247Val) c.482A>T (p.Glu161Val) n.378A>T c.463A>T n.1013A>T n.980A>T | |
| 19 | g.11107438dup | CA2955303473 | LDLR | c.1122dup (p.Cys375MetfsTer12) c.864dup (p.Cys289MetfsTer12) c.1118dup c.360dup (p.Cys121MetfsTer12) c.741dup (p.Cys248MetfsTer12) c.483dup (p.Cys162MetfsTer12) n.379dup c.464dup n.1014dup n.981dup | |
| 19 | g.11107438A>C | CA404080769 | LDLR | c.1122A>C (p.Glu374Asp) c.864A>C (p.Glu288Asp) c.1118A>C c.360A>C (p.Glu120Asp) c.741A>C (p.Glu247Asp) c.483A>C (p.Glu161Asp) n.379A>C c.464A>C n.1014A>C n.981A>C | |
| 19 | g.11107438A>G | CA505485074 | LDLR | c.1122A>G (p.Glu374=) c.864A>G (p.Glu288=) c.1118A>G c.360A>G (p.Glu120=) c.741A>G (p.Glu247=) c.483A>G (p.Glu161=) n.379A>G c.464A>G n.1014A>G n.981A>G | |
| 19 | g.11107438A>T | CA404080767 | LDLR | c.1122A>T (p.Glu374Asp) c.864A>T (p.Glu288Asp) c.1118A>T c.360A>T (p.Glu120Asp) c.741A>T (p.Glu247Asp) c.483A>T (p.Glu161Asp) n.379A>T c.464A>T n.1014A>T n.981A>T | |
| 19 | g.11107438_11107439delinsAT | CA2322768596 | LDLR | c.1122_1123delinsAT (p.Glu374=) c.864_865delinsAT (p.Glu288=) c.1118_1119delinsAT c.360_361delinsAT (p.Glu120=) c.741_742delinsAT (p.Glu247=) c.483_484delinsAT (p.Glu161=) n.379_380delinsAT c.464_465delinsAT n.1014_1015delinsAT n.981_982delinsAT | |
| 19 | g.11107439del | CA10585165 | LDLR | c.1123del (p.Cys375AlafsTer?) c.865del (p.Cys289AlafsTer?) c.1119del c.361del (p.Cys121AlafsTer?) c.742del (p.Cys248AlafsTer?) c.484del (p.Cys162AlafsTer?) n.380del c.465del n.1015del n.982del | ClinVar dbSNP |
| 19 | g.11107439T>A | CA404080775 | LDLR | c.1123T>A (p.Cys375Ser) c.865T>A (p.Cys289Ser) c.1119T>A c.361T>A (p.Cys121Ser) c.742T>A (p.Cys248Ser) c.484T>A (p.Cys162Ser) n.380T>A c.465T>A n.1015T>A n.982T>A | |
| 19 | g.11107439T>C | CA10585164 | LDLR | c.1123T>C (p.Cys375Arg) c.865T>C (p.Cys289Arg) c.1119T>C c.361T>C (p.Cys121Arg) c.742T>C (p.Cys248Arg) c.484T>C (p.Cys162Arg) n.380T>C c.465T>C n.1015T>C n.982T>C | ClinVar dbSNP |
| 19 | g.11107439T>G | CA404080780 | LDLR | c.1123T>G (p.Cys375Gly) c.865T>G (p.Cys289Gly) c.1119T>G c.361T>G (p.Cys121Gly) c.742T>G (p.Cys248Gly) c.484T>G (p.Cys162Gly) n.380T>G c.465T>G n.1015T>G n.982T>G | ClinVar dbSNP |
| 19 | g.11107439T= | CA2322768597 | LDLR | c.1123T= (p.Cys375=) c.865T= (p.Cys289=) c.1119T= c.361T= (p.Cys121=) c.742T= (p.Cys248=) c.484T= (p.Cys162=) n.380T= c.465T= n.1015T= n.982T= | |
| 19 | g.11107440G>A | CA404080788 | LDLR | c.1124G>A (p.Cys375Tyr) c.866G>A (p.Cys289Tyr) c.1120G>A c.362G>A (p.Cys121Tyr) c.743G>A (p.Cys248Tyr) c.485G>A (p.Cys162Tyr) n.381G>A c.466G>A n.1016G>A n.983G>A | ClinVar dbSNP |
| 19 | g.11107440G>C | CA404080791 | LDLR | c.1124G>C (p.Cys375Ser) c.866G>C (p.Cys289Ser) c.1120G>C c.362G>C (p.Cys121Ser) c.743G>C (p.Cys248Ser) c.485G>C (p.Cys162Ser) n.381G>C c.466G>C n.1016G>C n.983G>C | gnomAD v4 |
| 19 | g.11107440G= | CA2322768598 | LDLR | c.1124G= (p.Cys375=) c.866G= (p.Cys289=) c.1120G= c.362G= (p.Cys121=) c.743G= (p.Cys248=) c.485G= (p.Cys162=) n.381G= c.466G= n.1016G= n.983G= | |
| 19 | g.11107440G>T | CA404080793 | LDLR | c.1124G>T (p.Cys375Phe) c.866G>T (p.Cys289Phe) c.1120G>T c.362G>T (p.Cys121Phe) c.743G>T (p.Cys248Phe) c.485G>T (p.Cys162Phe) n.381G>T c.466G>T n.1016G>T n.983G>T | |
| 19 | g.11107441C>A | CA404080801 | LDLR | c.1125C>A (p.Cys375Ter) c.867C>A (p.Cys289Ter) c.1121C>A c.363C>A (p.Cys121Ter) c.744C>A (p.Cys248Ter) c.486C>A (p.Cys162Ter) n.382C>A c.467C>A n.1017C>A n.984C>A | ClinVar |
| 19 | g.11107441C>G | CA404080804 | LDLR | c.1125C>G (p.Cys375Trp) c.867C>G (p.Cys289Trp) c.1121C>G c.363C>G (p.Cys121Trp) c.744C>G (p.Cys248Trp) c.486C>G (p.Cys162Trp) n.382C>G c.467C>G n.1017C>G n.984C>G | |
| 19 | g.11107441C>T | CA505485075 | LDLR | c.1125C>T (p.Cys375=) c.867C>T (p.Cys289=) c.1121C>T c.363C>T (p.Cys121=) c.744C>T (p.Cys248=) c.486C>T (p.Cys162=) n.382C>T c.467C>T n.1017C>T n.984C>T | ClinVar gnomAD v4 |
| 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.11107442A>C | CA404080808 | LDLR | c.1126A>C (p.Ile376Leu) c.868A>C (p.Ile290Leu) c.1122A>C c.364A>C (p.Ile122Leu) c.745A>C (p.Ile249Leu) c.487A>C (p.Ile163Leu) n.383A>C c.468A>C n.1018A>C n.985A>C | |
| 19 | g.11107442A>G | CA404080813 | LDLR | c.1126A>G (p.Ile376Val) c.868A>G (p.Ile290Val) c.1122A>G c.364A>G (p.Ile122Val) c.745A>G (p.Ile249Val) c.487A>G (p.Ile163Val) n.383A>G c.468A>G n.1018A>G n.985A>G | |
| 19 | g.11107442A>T | CA404080816 | LDLR | c.1126A>T (p.Ile376Phe) c.868A>T (p.Ile290Phe) c.1122A>T c.364A>T (p.Ile122Phe) c.745A>T (p.Ile249Phe) c.487A>T (p.Ile163Phe) n.383A>T c.468A>T n.1018A>T n.985A>T | |
| 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 |