Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169154544A>C | CA349137377 | LRP2 | c.12211T>G (p.Ser4071Ala) c.3111T>G c.1239T>G (p.His413Gln) c.12082T>G (p.Ser4028Ala) c.9922T>G (p.Ser3308Ala) | |
2 | g.169154544A>G | CA349137379 | LRP2 | c.12211T>C (p.Ser4071Pro) c.3111T>C c.1239T>C (p.His413=) c.12082T>C (p.Ser4028Pro) c.9922T>C (p.Ser3308Pro) | |
2 | g.169154544A>T | CA349137381 | LRP2 | c.12211T>A (p.Ser4071Thr) c.3111T>A c.1239T>A (p.His413Gln) c.12082T>A (p.Ser4028Thr) c.9922T>A (p.Ser3308Thr) | |
2 | g.169154545T>A | CA429922589 | LRP2 | c.12210A>T (p.Ser4070=) c.3110A>T c.1238A>T (p.His413Leu) c.12081A>T (p.Ser4027=) c.9921A>T (p.Ser3307=) | |
2 | g.169154545T>C | CA429922588 | LRP2 | c.12210A>G (p.Ser4070=) c.3110A>G c.1238A>G (p.His413Arg) c.12081A>G (p.Ser4027=) c.9921A>G (p.Ser3307=) | ClinVar |
2 | g.169154545T>G | CA429922587 | LRP2 | c.12210A>C (p.Ser4070=) c.3110A>C c.1238A>C (p.His413Pro) c.12081A>C (p.Ser4027=) c.9921A>C (p.Ser3307=) | |
2 | g.169154546G>A | CA349137383 | LRP2 | c.12209C>T (p.Ser4070Leu) c.3109C>T c.1237C>T (p.His413Tyr) c.12080C>T (p.Ser4027Leu) c.9920C>T (p.Ser3307Leu) | dbSNP |
2 | g.169154546G>C | CA349137385 | LRP2 | c.12209C>G (p.Ser4070Ter) c.3109C>G c.1237C>G (p.His413Asp) c.12080C>G (p.Ser4027Ter) c.9920C>G (p.Ser3307Ter) | COSMIC |
2 | g.169154546G= | CA1306305666 | LRP2 | c.12209C= (p.Ser4070=) c.3109C= c.1237C= (p.His413=) c.12080C= (p.Ser4027=) c.9920C= (p.Ser3307=) | |
2 | g.169154546G>T | CA349137387 | LRP2 | c.12209C>A (p.Ser4070Ter) c.3109C>A c.1237C>A (p.His413Asn) c.12080C>A (p.Ser4027Ter) c.9920C>A (p.Ser3307Ter) | |
2 | g.169154547A>C | CA349137389 | LRP2 | c.12208T>G (p.Ser4070Ala) c.3108T>G c.1236T>G (p.Ser412=) c.12079T>G (p.Ser4027Ala) c.9919T>G (p.Ser3307Ala) | |
2 | g.169154547A>G | CA349137390 | LRP2 | c.12208T>C (p.Ser4070Pro) c.3108T>C c.1236T>C (p.Ser412=) c.12079T>C (p.Ser4027Pro) c.9919T>C (p.Ser3307Pro) | |
2 | g.169154547A>T | CA349137393 | LRP2 | c.12208T>A (p.Ser4070Thr) c.3108T>A c.1236T>A (p.Ser412=) c.12079T>A (p.Ser4027Thr) c.9919T>A (p.Ser3307Thr) | |
2 | g.169154548G>A | CA429922590 | LRP2 | c.12207C>T (p.Leu4069=) c.3107C>T c.1235C>T (p.Ser412Phe) c.12078C>T (p.Leu4026=) c.9918C>T (p.Leu3306=) | |
2 | g.169154548G>C | CA429922591 | LRP2 | c.12207C>G (p.Leu4069=) c.3107C>G c.1235C>G (p.Ser412Cys) c.12078C>G (p.Leu4026=) c.9918C>G (p.Leu3306=) | |
2 | g.169154548G>T | CA429922592 | LRP2 | c.12207C>A (p.Leu4069=) c.3107C>A c.1235C>A (p.Ser412Tyr) c.12078C>A (p.Leu4026=) c.9918C>A (p.Leu3306=) | |
2 | g.169154549A>C | CA349137398 | LRP2 | c.12206T>G (p.Leu4069Arg) c.3106T>G c.1234T>G (p.Ser412Ala) c.12077T>G (p.Leu4026Arg) c.9917T>G (p.Leu3306Arg) | |
2 | g.169154549A>G | CA349137394 | LRP2 | c.12206T>C (p.Leu4069Pro) c.3106T>C c.1234T>C (p.Ser412Pro) c.12077T>C (p.Leu4026Pro) c.9917T>C (p.Leu3306Pro) | |
2 | g.169154549A>T | CA349137396 | LRP2 | c.12206T>A (p.Leu4069His) c.3106T>A c.1234T>A (p.Ser412Thr) c.12077T>A (p.Leu4026His) c.9917T>A (p.Leu3306His) | |
2 | g.169154550G>A | CA349137400 | LRP2 | c.12205C>T (p.Leu4069Phe) c.3105C>T c.1233C>T (p.Ile411=) c.12076C>T (p.Leu4026Phe) c.9916C>T (p.Leu3306Phe) | gnomAD v4 |
2 | g.169154550G>C | CA349137401 | LRP2 | c.12205C>G (p.Leu4069Val) c.3105C>G c.1233C>G (p.Ile411Met) c.12076C>G (p.Leu4026Val) c.9916C>G (p.Leu3306Val) | dbSNP gnomAD v4 |
2 | g.169154550G= | CA1306305668 | LRP2 | c.12205C= (p.Leu4069=) c.3105C= c.1233C= (p.Ile411=) c.12076C= (p.Leu4026=) c.9916C= (p.Leu3306=) | |
2 | g.169154550G>T | CA349137403 | LRP2 | c.12205C>A (p.Leu4069Ile) c.3105C>A c.1233C>A (p.Ile411=) c.12076C>A (p.Leu4026Ile) c.9916C>A (p.Leu3306Ile) | |
2 | g.169154551A>C | CA349137405 | LRP2 | c.12204T>G (p.Asn4068Lys) c.3104T>G c.1232T>G (p.Ile411Ser) c.12075T>G (p.Asn4025Lys) c.9915T>G (p.Asn3305Lys) | |
2 | g.169154551A>G | CA429922593 | LRP2 | c.12204T>C (p.Asn4068=) c.3104T>C c.1232T>C (p.Ile411Thr) c.12075T>C (p.Asn4025=) c.9915T>C (p.Asn3305=) | |
2 | g.169154551A>T | CA349137407 | LRP2 | c.12204T>A (p.Asn4068Lys) c.3104T>A c.1232T>A (p.Ile411Asn) c.12075T>A (p.Asn4025Lys) c.9915T>A (p.Asn3305Lys) | |
2 | g.169154552T>A | CA349137408 | LRP2 | c.12203A>T (p.Asn4068Ile) c.3103A>T c.1231A>T (p.Ile411Phe) c.12074A>T (p.Asn4025Ile) c.9914A>T (p.Asn3305Ile) | |
2 | g.169154552T>C | CA349137410 | LRP2 | c.12203A>G (p.Asn4068Ser) c.3103A>G c.1231A>G (p.Ile411Val) c.12074A>G (p.Asn4025Ser) c.9914A>G (p.Asn3305Ser) | |
2 | g.169154552T>G | CA349137412 | LRP2 | c.12203A>C (p.Asn4068Thr) c.3103A>C c.1231A>C (p.Ile411Leu) c.12074A>C (p.Asn4025Thr) c.9914A>C (p.Asn3305Thr) | |
2 | g.169154553T>A | CA349137413 | LRP2 | c.12202A>T (p.Asn4068Tyr) c.3102A>T c.1230A>T (p.Ile410=) c.12073A>T (p.Asn4025Tyr) c.9913A>T (p.Asn3305Tyr) | |
2 | g.169154553T>C | CA349137414 | LRP2 | c.12202A>G (p.Asn4068Asp) c.3102A>G c.1230A>G (p.Ile410Met) c.12073A>G (p.Asn4025Asp) c.9913A>G (p.Asn3305Asp) | gnomAD v4 |
2 | g.169154553T>G | CA349137415 | LRP2 | c.12202A>C (p.Asn4068His) c.3102A>C c.1230A>C (p.Ile410=) c.12073A>C (p.Asn4025His) c.9913A>C (p.Asn3305His) | |
2 | g.169154554A= | CA1306305672 | LRP2 | c.12201T= (p.Tyr4067=) c.3101T= c.1229T= (p.Ile410=) c.12072T= (p.Tyr4024=) c.9912T= (p.Tyr3304=) | |
2 | g.169154554A>C | CA349137418 | LRP2 | c.12201T>G (p.Tyr4067Ter) c.3101T>G c.1229T>G (p.Ile410Arg) c.12072T>G (p.Tyr4024Ter) c.9912T>G (p.Tyr3304Ter) | |
2 | g.169154554A>G | CA429922594 | LRP2 | c.12201T>C (p.Tyr4067=) c.3101T>C c.1229T>C (p.Ile410Thr) c.12072T>C (p.Tyr4024=) c.9912T>C (p.Tyr3304=) | dbSNP |
2 | g.169154554A>T | CA349137416 | LRP2 | c.12201T>A (p.Tyr4067Ter) c.3101T>A c.1229T>A (p.Ile410Lys) c.12072T>A (p.Tyr4024Ter) c.9912T>A (p.Tyr3304Ter) | |
2 | g.169154555T>A | CA349137421 | LRP2 | c.12200A>T (p.Tyr4067Phe) c.3100A>T c.1228A>T (p.Ile410Leu) c.12071A>T (p.Tyr4024Phe) c.9911A>T (p.Tyr3304Phe) | |
2 | g.169154555T>C | CA349137422 | LRP2 | c.12200A>G (p.Tyr4067Cys) c.3100A>G c.1228A>G (p.Ile410Val) c.12071A>G (p.Tyr4024Cys) c.9911A>G (p.Tyr3304Cys) | |
2 | g.169154555T>G | CA349137423 | LRP2 | c.12200A>C (p.Tyr4067Ser) c.3100A>C c.1228A>C (p.Ile410Leu) c.12071A>C (p.Tyr4024Ser) c.9911A>C (p.Tyr3304Ser) | |
2 | g.169154556A>C | CA349137425 | LRP2 | c.12199T>G (p.Tyr4067Asp) c.3099T>G c.1227T>G (p.Asn409Lys) c.12070T>G (p.Tyr4024Asp) c.9910T>G (p.Tyr3304Asp) | |
2 | g.169154556A>G | CA349137427 | LRP2 | c.12199T>C (p.Tyr4067His) c.3099T>C c.1227T>C (p.Asn409=) c.12070T>C (p.Tyr4024His) c.9910T>C (p.Tyr3304His) | |
2 | g.169154556A>T | CA349137428 | LRP2 | c.12199T>A (p.Tyr4067Asn) c.3099T>A c.1227T>A (p.Asn409Lys) c.12070T>A (p.Tyr4024Asn) c.9910T>A (p.Tyr3304Asn) | |
2 | g.169154557T>A | CA349137432 | LRP2 | c.12198A>T (p.Lys4066Asn) c.3098A>T c.1226A>T (p.Asn409Ile) c.12069A>T (p.Lys4023Asn) c.9909A>T (p.Lys3303Asn) | |
2 | g.169154557T>C | CA429922595 | LRP2 | c.12198A>G (p.Lys4066=) c.3098A>G c.1226A>G (p.Asn409Ser) c.12069A>G (p.Lys4023=) c.9909A>G (p.Lys3303=) | ClinVar dbSNP gnomAD v4 |
2 | g.169154557T>G | CA349137430 | LRP2 | c.12198A>C (p.Lys4066Asn) c.3098A>C c.1226A>C (p.Asn409Thr) c.12069A>C (p.Lys4023Asn) c.9909A>C (p.Lys3303Asn) | |
2 | g.169154557T= | CA1306305674 | LRP2 | c.12198A= (p.Lys4066=) c.3098A= c.1226A= (p.Asn409=) c.12069A= (p.Lys4023=) c.9909A= (p.Lys3303=) | |
2 | g.169154558T>A | CA349137434 | LRP2 | c.12197A>T (p.Lys4066Ile) c.3097A>T c.1225A>T (p.Asn409Tyr) c.12068A>T (p.Lys4023Ile) c.9908A>T (p.Lys3303Ile) | |
2 | g.169154558T>C | CA349137435 | LRP2 | c.12197A>G (p.Lys4066Arg) c.3097A>G c.1225A>G (p.Asn409Asp) c.12068A>G (p.Lys4023Arg) c.9908A>G (p.Lys3303Arg) | |
2 | g.169154558T>G | CA349137437 | LRP2 | c.12197A>C (p.Lys4066Thr) c.3097A>C c.1225A>C (p.Asn409His) c.12068A>C (p.Lys4023Thr) c.9908A>C (p.Lys3303Thr) | |
2 | g.169154559T>A | CA349137440 | LRP2 | c.12196A>T (p.Lys4066Ter) c.3096A>T c.1224A>T (p.Glu408Asp) c.12067A>T (p.Lys4023Ter) c.9907A>T (p.Lys3303Ter) | |
2 | g.169154559T>C | CA349137441 | LRP2 | c.12196A>G (p.Lys4066Glu) c.3096A>G c.1224A>G (p.Glu408=) c.12067A>G (p.Lys4023Glu) c.9907A>G (p.Lys3303Glu) | |
2 | g.169154559T>G | CA349137443 | LRP2 | c.12196A>C (p.Lys4066Gln) c.3096A>C c.1224A>C (p.Glu408Asp) c.12067A>C (p.Lys4023Gln) c.9907A>C (p.Lys3303Gln) | |
2 | g.169154560T>A | CA429922596 | LRP2 | c.12195A>T (p.Arg4065=) c.3095A>T c.1223A>T (p.Glu408Val) c.12066A>T (p.Arg4022=) c.9906A>T (p.Arg3302=) | dbSNP |
2 | g.169154560T>C | CA429922597 | LRP2 | c.12195A>G (p.Arg4065=) c.3095A>G c.1223A>G (p.Glu408Gly) c.12066A>G (p.Arg4022=) c.9906A>G (p.Arg3302=) | dbSNP |
2 | g.169154560T>G | CA429922598 | LRP2 | c.12195A>C (p.Arg4065=) c.3095A>C c.1223A>C (p.Glu408Ala) c.12066A>C (p.Arg4022=) c.9906A>C (p.Arg3302=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154560T= | CA1306305677 | LRP2 | c.12195A= (p.Arg4065=) c.3095A= c.1223A= (p.Glu408=) c.12066A= (p.Arg4022=) c.9906A= (p.Arg3302=) | |
2 | g.169154561C>A | CA349137445 | LRP2 | c.12194G>T (p.Arg4065Leu) c.3094G>T c.1222G>T (p.Glu408Ter) c.12065G>T (p.Arg4022Leu) c.9905G>T (p.Arg3302Leu) | |
2 | g.169154561C= | CA1306305680 | LRP2 | c.12194G= (p.Arg4065=) c.3094G= c.1222G= (p.Glu408=) c.12065G= (p.Arg4022=) c.9905G= (p.Arg3302=) | |
2 | g.169154561C>G | CA349137448 | LRP2 | c.12194G>C (p.Arg4065Pro) c.3094G>C c.1222G>C (p.Glu408Gln) c.12065G>C (p.Arg4022Pro) c.9905G>C (p.Arg3302Pro) | |
2 | g.169154561C>T | CA59898142 | LRP2 | c.12194G>A (p.Arg4065Gln) c.3094G>A c.1222G>A (p.Glu408Lys) c.12065G>A (p.Arg4022Gln) c.9905G>A (p.Arg3302Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154562G>A | CA349137449 | LRP2 | c.12193C>T (p.Arg4065Ter) c.3093C>T c.1221C>T (p.Phe407=) c.12064C>T (p.Arg4022Ter) c.9904C>T (p.Arg3302Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154562G>C | CA349137450 | LRP2 | c.12193C>G (p.Arg4065Gly) c.3093C>G c.1221C>G (p.Phe407Leu) c.12064C>G (p.Arg4022Gly) c.9904C>G (p.Arg3302Gly) | dbSNP |
2 | g.169154562G= | CA1306305687 | LRP2 | c.12193C= (p.Arg4065=) c.3093C= c.1221C= (p.Phe407=) c.12064C= (p.Arg4022=) c.9904C= (p.Arg3302=) | |
2 | g.169154562G>T | CA429922599 | LRP2 | c.12193C>A (p.Arg4065=) c.3093C>A c.1221C>A (p.Phe407Leu) c.12064C>A (p.Arg4022=) c.9904C>A (p.Arg3302=) | ClinVar gnomAD v4 |
2 | g.169154563A>C | CA349137452 | LRP2 | c.12192T>G (p.Ile4064Met) c.3092T>G c.1220T>G (p.Phe407Cys) c.12063T>G (p.Ile4021Met) c.9903T>G (p.Ile3301Met) | |
2 | g.169154563A>G | CA429922600 | LRP2 | c.12192T>C (p.Ile4064=) c.3092T>C c.1220T>C (p.Phe407Ser) c.12063T>C (p.Ile4021=) c.9903T>C (p.Ile3301=) | |
2 | g.169154563A>T | CA429922601 | LRP2 | c.12192T>A (p.Ile4064=) c.3092T>A c.1220T>A (p.Phe407Tyr) c.12063T>A (p.Ile4021=) c.9903T>A (p.Ile3301=) | |
2 | g.169154564A>C | CA349137453 | LRP2 | c.12191T>G (p.Ile4064Ser) c.3091T>G c.1219T>G (p.Phe407Val) c.12062T>G (p.Ile4021Ser) c.9902T>G (p.Ile3301Ser) | |
2 | g.169154564A>G | CA349137454 | LRP2 | c.12191T>C (p.Ile4064Thr) c.3091T>C c.1219T>C (p.Phe407Leu) c.12062T>C (p.Ile4021Thr) c.9902T>C (p.Ile3301Thr) | |
2 | g.169154564A>T | CA349137455 | LRP2 | c.12191T>A (p.Ile4064Asn) c.3091T>A c.1219T>A (p.Phe407Ile) c.12062T>A (p.Ile4021Asn) c.9902T>A (p.Ile3301Asn) | COSMIC |
2 | g.169154565T>A | CA349137457 | LRP2 | c.12190A>T (p.Ile4064Phe) c.3090A>T c.1218A>T (p.Glu406Asp) c.12061A>T (p.Ile4021Phe) c.9901A>T (p.Ile3301Phe) | gnomAD v4 |
2 | g.169154565T>C | CA349137459 | LRP2 | c.12190A>G (p.Ile4064Val) c.3090A>G c.1218A>G (p.Glu406=) c.12061A>G (p.Ile4021Val) c.9901A>G (p.Ile3301Val) | |
2 | g.169154565T>G | CA349137460 | LRP2 | c.12190A>C (p.Ile4064Leu) c.3090A>C c.1218A>C (p.Glu406Asp) c.12061A>C (p.Ile4021Leu) c.9901A>C (p.Ile3301Leu) | |
2 | g.169154566T>A | CA429922602 | LRP2 | c.12189A>T (p.Arg4063=) c.3089A>T c.1217A>T (p.Glu406Val) c.12060A>T (p.Arg4020=) c.9900A>T (p.Arg3300=) | |
2 | g.169154566T>C | CA429922603 | LRP2 | c.12189A>G (p.Arg4063=) c.3089A>G c.1217A>G (p.Glu406Gly) c.12060A>G (p.Arg4020=) c.9900A>G (p.Arg3300=) | ClinVar gnomAD v4 |
2 | g.169154566T>G | CA429922604 | LRP2 | c.12189A>C (p.Arg4063=) c.3089A>C c.1217A>C (p.Glu406Ala) c.12060A>C (p.Arg4020=) c.9900A>C (p.Arg3300=) | |
2 | g.169154567C>A | CA349137461 | LRP2 | c.12188G>T (p.Arg4063Leu) c.3088G>T c.1216G>T (p.Glu406Ter) c.12059G>T (p.Arg4020Leu) c.9899G>T (p.Arg3300Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154567C= | CA1306305691 | LRP2 | c.12188G= (p.Arg4063=) c.3088G= c.1216G= (p.Glu406=) c.12059G= (p.Arg4020=) c.9899G= (p.Arg3300=) | |
2 | g.169154567C>G | CA349137462 | LRP2 | c.12188G>C (p.Arg4063Pro) c.3088G>C c.1216G>C (p.Glu406Gln) c.12059G>C (p.Arg4020Pro) c.9899G>C (p.Arg3300Pro) | |
2 | g.169154567C>T | CA1952860 | LRP2 | c.12188G>A (p.Arg4063Gln) c.3088G>A c.1216G>A (p.Glu406Lys) c.12059G>A (p.Arg4020Gln) c.9899G>A (p.Arg3300Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154568G>A | CA349137464 | LRP2 | c.12187C>T (p.Arg4063Ter) c.3087C>T c.1215C>T (p.Ser405=) c.12058C>T (p.Arg4020Ter) c.9898C>T (p.Arg3300Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.169154568G>C | CA1952861 | LRP2 | c.12187C>G (p.Arg4063Gly) c.3087C>G c.1215C>G (p.Ser405=) c.12058C>G (p.Arg4020Gly) c.9898C>G (p.Arg3300Gly) | dbSNP ExAC gnomAD v2 |
2 | g.169154568G= | CA1306305694 | LRP2 | c.12187C= (p.Arg4063=) c.3087C= c.1215C= (p.Ser405=) c.12058C= (p.Arg4020=) c.9898C= (p.Arg3300=) | |
2 | g.169154568G>T | CA429922606 | LRP2 | c.12187C>A (p.Arg4063=) c.3087C>A c.1215C>A (p.Ser405=) c.12058C>A (p.Arg4020=) c.9898C>A (p.Arg3300=) | |
2 | g.169154569G>A | CA429922607 | LRP2 | c.12186C>T (p.Val4062=) c.3086C>T c.1214C>T (p.Ser405Phe) c.12057C>T (p.Val4019=) c.9897C>T (p.Val3299=) | COSMIC |
2 | g.169154569G>C | CA1952862 | LRP2 | c.12186C>G (p.Val4062=) c.3086C>G c.1214C>G (p.Ser405Cys) c.12057C>G (p.Val4019=) c.9897C>G (p.Val3299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154569G= | CA1306305698 | LRP2 | c.12186C= (p.Val4062=) c.3086C= c.1214C= (p.Ser405=) c.12057C= (p.Val4019=) c.9897C= (p.Val3299=) | |
2 | g.169154569G>T | CA429922608 | LRP2 | c.12186C>A (p.Val4062=) c.3086C>A c.1214C>A (p.Ser405Tyr) c.12057C>A (p.Val4019=) c.9897C>A (p.Val3299=) | |
2 | g.169154570A>C | CA349137468 | LRP2 | c.12185T>G (p.Val4062Gly) c.3085T>G c.1213T>G (p.Ser405Ala) c.12056T>G (p.Val4019Gly) c.9896T>G (p.Val3299Gly) | |
2 | g.169154570A>G | CA349137469 | LRP2 | c.12185T>C (p.Val4062Ala) c.3085T>C c.1213T>C (p.Ser405Pro) c.12056T>C (p.Val4019Ala) c.9896T>C (p.Val3299Ala) | |
2 | g.169154570A>T | CA349137471 | LRP2 | c.12185T>A (p.Val4062Asp) c.3085T>A c.1213T>A (p.Ser405Thr) c.12056T>A (p.Val4019Asp) c.9896T>A (p.Val3299Asp) | |
2 | g.169154571C>A | CA349137474 | LRP2 | c.12184G>T (p.Val4062Phe) c.3084G>T c.1212G>T (p.Met404Ile) c.12055G>T (p.Val4019Phe) c.9895G>T (p.Val3299Phe) | |
2 | g.169154571C>G | CA349137475 | LRP2 | c.12184G>C (p.Val4062Leu) c.3084G>C c.1212G>C (p.Met404Ile) c.12055G>C (p.Val4019Leu) c.9895G>C (p.Val3299Leu) | |
2 | g.169154571C>T | CA349137477 | LRP2 | c.12184G>A (p.Val4062Ile) c.3084G>A c.1212G>A (p.Met404Ile) c.12055G>A (p.Val4019Ile) c.9895G>A (p.Val3299Ile) | |
2 | g.169154572A= | CA1306305702 | LRP2 | c.12183T= (p.Asn4061=) c.3083T= c.1211T= (p.Met404=) c.12054T= (p.Asn4018=) c.9894T= (p.Asn3298=) | |
2 | g.169154572A>C | CA349137479 | LRP2 | c.12183T>G (p.Asn4061Lys) c.3083T>G c.1211T>G (p.Met404Arg) c.12054T>G (p.Asn4018Lys) c.9894T>G (p.Asn3298Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154572A>G | CA429922609 | LRP2 | c.12183T>C (p.Asn4061=) c.3083T>C c.1211T>C (p.Met404Thr) c.12054T>C (p.Asn4018=) c.9894T>C (p.Asn3298=) | |
2 | g.169154572A>T | CA349137481 | LRP2 | c.12183T>A (p.Asn4061Lys) c.3083T>A c.1211T>A (p.Met404Lys) c.12054T>A (p.Asn4018Lys) c.9894T>A (p.Asn3298Lys) | |
2 | g.169154573T>A | CA349137483 | LRP2 | c.12182A>T (p.Asn4061Ile) c.3082A>T c.1210A>T (p.Met404Leu) c.12053A>T (p.Asn4018Ile) c.9893A>T (p.Asn3298Ile) | |
2 | g.169154573T>C | CA1952863 | LRP2 | c.12182A>G (p.Asn4061Ser) c.3082A>G c.1210A>G (p.Met404Val) c.12053A>G (p.Asn4018Ser) c.9893A>G (p.Asn3298Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154573T>G | CA349137486 | LRP2 | c.12182A>C (p.Asn4061Thr) c.3082A>C c.1210A>C (p.Met404Leu) c.12053A>C (p.Asn4018Thr) c.9893A>C (p.Asn3298Thr) | |
2 | g.169154573T= | CA1306305706 | LRP2 | c.12182A= (p.Asn4061=) c.3082A= c.1210A= (p.Met404=) c.12053A= (p.Asn4018=) c.9893A= (p.Asn3298=) | |
2 | g.169154574T>A | CA349137488 | LRP2 | c.12181A>T (p.Asn4061Tyr) c.3081A>T c.1209A>T (p.Thr403=) c.12052A>T (p.Asn4018Tyr) c.9892A>T (p.Asn3298Tyr) | |
2 | g.169154574T>C | CA349137490 | LRP2 | c.12181A>G (p.Asn4061Asp) c.3081A>G c.1209A>G (p.Thr403=) c.12052A>G (p.Asn4018Asp) c.9892A>G (p.Asn3298Asp) | |
2 | g.169154574T>G | CA349137491 | LRP2 | c.12181A>C (p.Asn4061His) c.3081A>C c.1209A>C (p.Thr403=) c.12052A>C (p.Asn4018His) c.9892A>C (p.Asn3298His) | |
2 | g.169154575G>A | CA429922610 | LRP2 | c.12180C>T (p.Asp4060=) c.3080C>T c.1208C>T (p.Thr403Ile) c.12051C>T (p.Asp4017=) c.9891C>T (p.Asp3297=) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154575G>C | CA349137495 | LRP2 | c.12180C>G (p.Asp4060Glu) c.3080C>G c.1208C>G (p.Thr403Arg) c.12051C>G (p.Asp4017Glu) c.9891C>G (p.Asp3297Glu) | |
2 | g.169154575G= | CA1306305708 | LRP2 | c.12180C= (p.Asp4060=) c.3080C= c.1208C= (p.Thr403=) c.12051C= (p.Asp4017=) c.9891C= (p.Asp3297=) | |
2 | g.169154575G>T | CA349137493 | LRP2 | c.12180C>A (p.Asp4060Glu) c.3080C>A c.1208C>A (p.Thr403Lys) c.12051C>A (p.Asp4017Glu) c.9891C>A (p.Asp3297Glu) | |
2 | g.169154576T>A | CA349137497 | LRP2 | c.12179A>T (p.Asp4060Val) c.3079A>T c.1207A>T (p.Thr403Ser) c.12050A>T (p.Asp4017Val) c.9890A>T (p.Asp3297Val) | |
2 | g.169154576T>C | CA349137499 | LRP2 | c.12179A>G (p.Asp4060Gly) c.3079A>G c.1207A>G (p.Thr403Ala) c.12050A>G (p.Asp4017Gly) c.9890A>G (p.Asp3297Gly) | |
2 | g.169154576T>G | CA349137500 | LRP2 | c.12179A>C (p.Asp4060Ala) c.3079A>C c.1207A>C (p.Thr403Pro) c.12050A>C (p.Asp4017Ala) c.9890A>C (p.Asp3297Ala) | |
2 | g.169154577C>A | CA349137502 | LRP2 | c.12178G>T (p.Asp4060Tyr) c.3078G>T c.1206G>T (p.Leu402=) c.12049G>T (p.Asp4017Tyr) c.9889G>T (p.Asp3297Tyr) | |
2 | g.169154577C>G | CA349137503 | LRP2 | c.12178G>C (p.Asp4060His) c.3078G>C c.1206G>C (p.Leu402=) c.12049G>C (p.Asp4017His) c.9889G>C (p.Asp3297His) | |
2 | g.169154577C>T | CA349137505 | LRP2 | c.12178G>A (p.Asp4060Asn) c.3078G>A c.1206G>A (p.Leu402=) c.12049G>A (p.Asp4017Asn) c.9889G>A (p.Asp3297Asn) | |
2 | g.169154578A>C | CA429922611 | LRP2 | c.12177T>G (p.Pro4059=) c.3077T>G c.1205T>G (p.Leu402Arg) c.12048T>G (p.Pro4016=) c.9888T>G (p.Pro3296=) | ClinVar |
2 | g.169154578A>G | CA429922613 | LRP2 | c.12177T>C (p.Pro4059=) c.3077T>C c.1205T>C (p.Leu402Pro) c.12048T>C (p.Pro4016=) c.9888T>C (p.Pro3296=) | |
2 | g.169154578A>T | CA429922612 | LRP2 | c.12177T>A (p.Pro4059=) c.3077T>A c.1205T>A (p.Leu402Gln) c.12048T>A (p.Pro4016=) c.9888T>A (p.Pro3296=) | |
2 | g.169154579G>A | CA349137510 | LRP2 | c.12176C>T (p.Pro4059Leu) c.3076C>T c.1204C>T (p.Leu402=) c.12047C>T (p.Pro4016Leu) c.9887C>T (p.Pro3296Leu) | gnomAD v4 COSMIC |
2 | g.169154579G>C | CA349137509 | LRP2 | c.12176C>G (p.Pro4059Arg) c.3076C>G c.1204C>G (p.Leu402Val) c.12047C>G (p.Pro4016Arg) c.9887C>G (p.Pro3296Arg) | |
2 | g.169154579G>T | CA349137507 | LRP2 | c.12176C>A (p.Pro4059His) c.3076C>A c.1204C>A (p.Leu402Met) c.12047C>A (p.Pro4016His) c.9887C>A (p.Pro3296His) | |
2 | g.169154580G>A | CA349137513 | LRP2 | c.12175C>T (p.Pro4059Ser) c.3075C>T c.1203C>T (p.Cys401=) c.12046C>T (p.Pro4016Ser) c.9886C>T (p.Pro3296Ser) | dbSNP |
2 | g.169154580G>C | CA349137514 | LRP2 | c.12175C>G (p.Pro4059Ala) c.3075C>G c.1203C>G (p.Cys401Trp) c.12046C>G (p.Pro4016Ala) c.9886C>G (p.Pro3296Ala) | |
2 | g.169154580G= | CA1306305710 | LRP2 | c.12175C= (p.Pro4059=) c.3075C= c.1203C= (p.Cys401=) c.12046C= (p.Pro4016=) c.9886C= (p.Pro3296=) | |
2 | g.169154580G>T | CA349137516 | LRP2 | c.12175C>A (p.Pro4059Thr) c.3075C>A c.1203C>A (p.Cys401Ter) c.12046C>A (p.Pro4016Thr) c.9886C>A (p.Pro3296Thr) | |
2 | g.169154581C>A | CA429922614 | LRP2 | c.12174G>T (p.Leu4058=) c.3074G>T c.1202G>T (p.Cys401Phe) c.12045G>T (p.Leu4015=) c.9885G>T (p.Leu3295=) | |
2 | g.169154581C>G | CA429922615 | LRP2 | c.12174G>C (p.Leu4058=) c.3074G>C c.1202G>C (p.Cys401Ser) c.12045G>C (p.Leu4015=) c.9885G>C (p.Leu3295=) | |
2 | g.169154581C>T | CA429922616 | LRP2 | c.12174G>A (p.Leu4058=) c.3074G>A c.1202G>A (p.Cys401Tyr) c.12045G>A (p.Leu4015=) c.9885G>A (p.Leu3295=) | gnomAD v4 |
2 | g.169154582A>C | CA349137518 | LRP2 | c.12173T>G (p.Leu4058Arg) c.3073T>G c.1201T>G (p.Cys401Gly) c.12044T>G (p.Leu4015Arg) c.9884T>G (p.Leu3295Arg) | |
2 | g.169154582A>G | CA349137520 | LRP2 | c.12173T>C (p.Leu4058Pro) c.3073T>C c.1201T>C (p.Cys401Arg) c.12044T>C (p.Leu4015Pro) c.9884T>C (p.Leu3295Pro) | |
2 | g.169154582A>T | CA349137521 | LRP2 | c.12173T>A (p.Leu4058Gln) c.3073T>A c.1201T>A (p.Cys401Ser) c.12044T>A (p.Leu4015Gln) c.9884T>A (p.Leu3295Gln) | |
2 | g.169154583G>A | CA1952864 | LRP2 | c.12172C>T (p.Leu4058=) c.3072C>T c.1200C>T (p.Tyr400=) c.12043C>T (p.Leu4015=) c.9883C>T (p.Leu3295=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154583G>C | CA349137524 | LRP2 | c.12172C>G (p.Leu4058Val) c.3072C>G c.1200C>G (p.Tyr400Ter) c.12043C>G (p.Leu4015Val) c.9883C>G (p.Leu3295Val) | |
2 | g.169154583G= | CA1306305715 | LRP2 | c.12172C= (p.Leu4058=) c.3072C= c.1200C= (p.Tyr400=) c.12043C= (p.Leu4015=) c.9883C= (p.Leu3295=) | |
2 | g.169154583G>T | CA349137523 | LRP2 | c.12172C>A (p.Leu4058Met) c.3072C>A c.1200C>A (p.Tyr400Ter) c.12043C>A (p.Leu4015Met) c.9883C>A (p.Leu3295Met) | |
2 | g.169154584T>A | CA429922617 | LRP2 | c.12171A>T (p.Leu4057=) c.3071A>T c.1199A>T (p.Tyr400Phe) c.12042A>T (p.Leu4014=) c.9882A>T (p.Leu3294=) | |
2 | g.169154584T>C | CA429922618 | LRP2 | c.12171A>G (p.Leu4057=) c.3071A>G c.1199A>G (p.Tyr400Cys) c.12042A>G (p.Leu4014=) c.9882A>G (p.Leu3294=) | gnomAD v4 |
2 | g.169154584T>G | CA429922619 | LRP2 | c.12171A>C (p.Leu4057=) c.3071A>C c.1199A>C (p.Tyr400Ser) c.12042A>C (p.Leu4014=) c.9882A>C (p.Leu3294=) | |
2 | g.169154585A>C | CA349137526 | LRP2 | c.12170T>G (p.Leu4057Arg) c.3070T>G c.1198T>G (p.Tyr400Asp) c.12041T>G (p.Leu4014Arg) c.9881T>G (p.Leu3294Arg) | |
2 | g.169154585A>G | CA349137529 | LRP2 | c.12170T>C (p.Leu4057Pro) c.3070T>C c.1198T>C (p.Tyr400His) c.12041T>C (p.Leu4014Pro) c.9881T>C (p.Leu3294Pro) | |
2 | g.169154585A>T | CA349137530 | LRP2 | c.12170T>A (p.Leu4057Gln) c.3070T>A c.1198T>A (p.Tyr400Asn) c.12041T>A (p.Leu4014Gln) c.9881T>A (p.Leu3294Gln) | |
2 | g.169154586G>A | CA429922623 | LRP2 | c.12169C>T (p.Leu4057=) c.3069C>T c.1197C>T (p.Cys399=) c.12040C>T (p.Leu4014=) c.9880C>T (p.Leu3294=) | |
2 | g.169154586G>C | CA349137531 | LRP2 | c.12169C>G (p.Leu4057Val) c.3069C>G c.1197C>G (p.Cys399Trp) c.12040C>G (p.Leu4014Val) c.9880C>G (p.Leu3294Val) | |
2 | g.169154586G>T | CA349137533 | LRP2 | c.12169C>A (p.Leu4057Ile) c.3069C>A c.1197C>A (p.Cys399Ter) c.12040C>A (p.Leu4014Ile) c.9880C>A (p.Leu3294Ile) | |
2 | g.169154587C>A | CA349137534 | LRP2 | c.12168G>T (p.Leu4056Phe) c.3068G>T c.1196G>T (p.Cys399Phe) c.12039G>T (p.Leu4013Phe) c.9879G>T (p.Leu3293Phe) | |
2 | g.169154587C>G | CA349137535 | LRP2 | c.12168G>C (p.Leu4056Phe) c.3068G>C c.1196G>C (p.Cys399Ser) c.12039G>C (p.Leu4013Phe) c.9879G>C (p.Leu3293Phe) | COSMIC |
2 | g.169154587C>T | CA429922624 | LRP2 | c.12168G>A (p.Leu4056=) c.3068G>A c.1196G>A (p.Cys399Tyr) c.12039G>A (p.Leu4013=) c.9879G>A (p.Leu3293=) | |
2 | g.169154588A>C | CA349137537 | LRP2 | c.12167T>G (p.Leu4056Trp) c.3067T>G c.1195T>G (p.Cys399Gly) c.12038T>G (p.Leu4013Trp) c.9878T>G (p.Leu3293Trp) | |
2 | g.169154588A>G | CA349137540 | LRP2 | c.12167T>C (p.Leu4056Ser) c.3067T>C c.1195T>C (p.Cys399Arg) c.12038T>C (p.Leu4013Ser) c.9878T>C (p.Leu3293Ser) | gnomAD v4 |
2 | g.169154588A>T | CA349137538 | LRP2 | c.12167T>A (p.Leu4056Ter) c.3067T>A c.1195T>A (p.Cys399Ser) c.12038T>A (p.Leu4013Ter) c.9878T>A (p.Leu3293Ter) | |
2 | g.169154589A= | CA1306305718 | LRP2 | c.12166T= (p.Leu4056=) c.3066T= c.1194T= (p.Cys398=) c.12037T= (p.Leu4013=) c.9877T= (p.Leu3293=) | |
2 | g.169154589A>C | CA349137543 | LRP2 | c.12166T>G (p.Leu4056Val) c.3066T>G c.1194T>G (p.Cys398Trp) c.12037T>G (p.Leu4013Val) c.9877T>G (p.Leu3293Val) | |
2 | g.169154589A>G | CA59898168 | LRP2 | c.12166T>C (p.Leu4056=) c.3066T>C c.1194T>C (p.Cys398=) c.12037T>C (p.Leu4013=) c.9877T>C (p.Leu3293=) | dbSNP gnomAD v4 |
2 | g.169154589A>T | CA349137544 | LRP2 | c.12166T>A (p.Leu4056Met) c.3066T>A c.1194T>A (p.Cys398Ter) c.12037T>A (p.Leu4013Met) c.9877T>A (p.Leu3293Met) | |
2 | g.169154590C>A | CA349137546 | LRP2 | c.12165G>T (p.Leu4055Phe) c.3065G>T c.1193G>T (p.Cys398Phe) c.12036G>T (p.Leu4012Phe) c.9876G>T (p.Leu3292Phe) | |
2 | g.169154590C= | CA1306305724 | LRP2 | c.12165G= (p.Leu4055=) c.3065G= c.1193G= (p.Cys398=) c.12036G= (p.Leu4012=) c.9876G= (p.Leu3292=) | |
2 | g.169154590C>G | CA1952865 | LRP2 | c.12165G>C (p.Leu4055Phe) c.3065G>C c.1193G>C (p.Cys398Ser) c.12036G>C (p.Leu4012Phe) c.9876G>C (p.Leu3292Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154590C>T | CA429922629 | LRP2 | c.12165G>A (p.Leu4055=) c.3065G>A c.1193G>A (p.Cys398Tyr) c.12036G>A (p.Leu4012=) c.9876G>A (p.Leu3292=) | |
2 | g.169154591A>C | CA349137550 | LRP2 | c.12164T>G (p.Leu4055Trp) c.3064T>G c.1192T>G (p.Cys398Gly) c.12035T>G (p.Leu4012Trp) c.9875T>G (p.Leu3292Trp) | |
2 | g.169154591A>G | CA349137553 | LRP2 | c.12164T>C (p.Leu4055Ser) c.3064T>C c.1192T>C (p.Cys398Arg) c.12035T>C (p.Leu4012Ser) c.9875T>C (p.Leu3292Ser) | |
2 | g.169154591A>T | CA349137552 | LRP2 | c.12164T>A (p.Leu4055Ter) c.3064T>A c.1192T>A (p.Cys398Ser) c.12035T>A (p.Leu4012Ter) c.9875T>A (p.Leu3292Ter) | |
2 | g.169154592A>C | CA349137555 | LRP2 | c.12163T>G (p.Leu4055Val) c.3063T>G c.1191T>G (p.Leu397=) c.12034T>G (p.Leu4012Val) c.9874T>G (p.Leu3292Val) | gnomAD v4 |
2 | g.169154592A>G | CA429922631 | LRP2 | c.12163T>C (p.Leu4055=) c.3063T>C c.1191T>C (p.Leu397=) c.12034T>C (p.Leu4012=) c.9874T>C (p.Leu3292=) | |
2 | g.169154592A>T | CA349137557 | LRP2 | c.12163T>A (p.Leu4055Met) c.3063T>A c.1191T>A (p.Leu397=) c.12034T>A (p.Leu4012Met) c.9874T>A (p.Leu3292Met) | gnomAD v3 gnomAD v4 |
2 | g.169154593A= | CA1306305728 | LRP2 | c.12162T= (p.Pro4054=) c.3062T= c.1190T= (p.Leu397=) c.12033T= (p.Pro4011=) c.9873T= (p.Pro3291=) | |
2 | g.169154593A>C | CA429922632 | LRP2 | c.12162T>G (p.Pro4054=) c.3062T>G c.1190T>G (p.Leu397Arg) c.12033T>G (p.Pro4011=) c.9873T>G (p.Pro3291=) | |
2 | g.169154593A>G | CA429922633 | LRP2 | c.12162T>C (p.Pro4054=) c.3062T>C c.1190T>C (p.Leu397Pro) c.12033T>C (p.Pro4011=) c.9873T>C (p.Pro3291=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154593A>T | CA429922634 | LRP2 | c.12162T>A (p.Pro4054=) c.3062T>A c.1190T>A (p.Leu397His) c.12033T>A (p.Pro4011=) c.9873T>A (p.Pro3291=) | |
2 | g.169154594G>A | CA349137559 | LRP2 | c.12161C>T (p.Pro4054Leu) c.3061C>T c.1189C>T (p.Leu397Phe) c.12032C>T (p.Pro4011Leu) c.9872C>T (p.Pro3291Leu) | dbSNP gnomAD v2 |
2 | g.169154594G>C | CA349137561 | LRP2 | c.12161C>G (p.Pro4054Arg) c.3061C>G c.1189C>G (p.Leu397Val) c.12032C>G (p.Pro4011Arg) c.9872C>G (p.Pro3291Arg) | |
2 | g.169154594G= | CA1306305732 | LRP2 | c.12161C= (p.Pro4054=) c.3061C= c.1189C= (p.Leu397=) c.12032C= (p.Pro4011=) c.9872C= (p.Pro3291=) | |
2 | g.169154594G>T | CA349137562 | LRP2 | c.12161C>A (p.Pro4054His) c.3061C>A c.1189C>A (p.Leu397Ile) c.12032C>A (p.Pro4011His) c.9872C>A (p.Pro3291His) | |
2 | g.169154595G>A | CA349137564 | LRP2 | c.12160C>T (p.Pro4054Ser) c.3060C>T c.1188C>T (p.Leu396=) c.12031C>T (p.Pro4011Ser) c.9871C>T (p.Pro3291Ser) | gnomAD v4 |
2 | g.169154595G>C | CA349137566 | LRP2 | c.12160C>G (p.Pro4054Ala) c.3060C>G c.1188C>G (p.Leu396=) c.12031C>G (p.Pro4011Ala) c.9871C>G (p.Pro3291Ala) | |
2 | g.169154595G>T | CA349137568 | LRP2 | c.12160C>A (p.Pro4054Thr) c.3060C>A c.1188C>A (p.Leu396=) c.12031C>A (p.Pro4011Thr) c.9871C>A (p.Pro3291Thr) | |
2 | g.169154596A>C | CA429922638 | LRP2 | c.12159T>G (p.Ser4053=) c.3059T>G c.1187T>G (p.Leu396Arg) c.12030T>G (p.Ser4010=) c.9870T>G (p.Ser3290=) | |
2 | g.169154596A>G | CA429922639 | LRP2 | c.12159T>C (p.Ser4053=) c.3059T>C c.1187T>C (p.Leu396Pro) c.12030T>C (p.Ser4010=) c.9870T>C (p.Ser3290=) | |
2 | g.169154596A>T | CA429922640 | LRP2 | c.12159T>A (p.Ser4053=) c.3059T>A c.1187T>A (p.Leu396His) c.12030T>A (p.Ser4010=) c.9870T>A (p.Ser3290=) | |
2 | g.169154597G>A | CA349137569 | LRP2 | c.12158C>T (p.Ser4053Phe) c.3058C>T c.1186C>T (p.Leu396Phe) c.12029C>T (p.Ser4010Phe) c.9869C>T (p.Ser3290Phe) | gnomAD v4 COSMIC |
2 | g.169154597G>C | CA349137570 | LRP2 | c.12158C>G (p.Ser4053Cys) c.3058C>G c.1186C>G (p.Leu396Val) c.12029C>G (p.Ser4010Cys) c.9869C>G (p.Ser3290Cys) | |
2 | g.169154597G= | CA1306305734 | LRP2 | c.12158C= (p.Ser4053=) c.3058C= c.1186C= (p.Leu396=) c.12029C= (p.Ser4010=) c.9869C= (p.Ser3290=) | |
2 | g.169154597G>T | CA349137572 | LRP2 | c.12158C>A (p.Ser4053Tyr) c.3058C>A c.1186C>A (p.Leu396Ile) c.12029C>A (p.Ser4010Tyr) c.9869C>A (p.Ser3290Tyr) | dbSNP gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154598A>C | CA349137574 | LRP2 | c.12157T>G (p.Ser4053Ala) c.3057T>G c.1185T>G (p.Ala395=) c.12028T>G (p.Ser4010Ala) c.9868T>G (p.Ser3290Ala) | |
2 | g.169154598A>G | CA349137576 | LRP2 | c.12157T>C (p.Ser4053Pro) c.3057T>C c.1185T>C (p.Ala395=) c.12028T>C (p.Ser4010Pro) c.9868T>C (p.Ser3290Pro) | |
2 | g.169154598A>T | CA349137575 | LRP2 | c.12157T>A (p.Ser4053Thr) c.3057T>A c.1185T>A (p.Ala395=) c.12028T>A (p.Ser4010Thr) c.9868T>A (p.Ser3290Thr) | |
2 | g.169154599G>A | CA429922642 | LRP2 | c.12156C>T (p.Ser4052=) c.3056C>T c.1184C>T (p.Ala395Val) c.12027C>T (p.Ser4009=) c.9867C>T (p.Ser3289=) | |
2 | g.169154599G>C | CA349137578 | LRP2 | c.12156C>G (p.Ser4052Arg) c.3056C>G c.1184C>G (p.Ala395Gly) c.12027C>G (p.Ser4009Arg) c.9867C>G (p.Ser3289Arg) | |
2 | g.169154599G>T | CA349137580 | LRP2 | c.12156C>A (p.Ser4052Arg) c.3056C>A c.1184C>A (p.Ala395Asp) c.12027C>A (p.Ser4009Arg) c.9867C>A (p.Ser3289Arg) | |
2 | g.169154600C>A | CA349137582 | LRP2 | c.12155G>T (p.Ser4052Ile) c.3055G>T c.1184-1G>T (n.1184-1G>T) c.12026G>T (p.Ser4009Ile) c.9866G>T (p.Ser3289Ile) | |
2 | g.169154600C= | CA1306305738 | LRP2 | c.12155G= (p.Ser4052=) c.3055G= c.1184-1G= (n.1184-1G=) c.12026G= (p.Ser4009=) c.9866G= (p.Ser3289=) | |
2 | g.169154600C>G | CA59898173 | LRP2 | c.12155G>C (p.Ser4052Thr) c.3055G>C c.1184-1G>C (n.1184-1G>C) c.12026G>C (p.Ser4009Thr) c.9866G>C (p.Ser3289Thr) | dbSNP gnomAD v4 |
2 | g.169154600C>T | CA349137585 | LRP2 | c.12155G>A (p.Ser4052Asn) c.3055G>A c.1184-1G>A (n.1184-1G>A) c.12026G>A (p.Ser4009Asn) c.9866G>A (p.Ser3289Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154601T>A | CA349137587 | LRP2 | c.12154A>T (p.Ser4052Cys) c.3054A>T c.1184-2A>T (n.1184-2A>T) c.12025A>T (p.Ser4009Cys) c.9865A>T (p.Ser3289Cys) | |
2 | g.169154601T>C | CA349137589 | LRP2 | c.12154A>G (p.Ser4052Gly) c.3054A>G c.1184-2A>G (n.1184-2A>G) c.12025A>G (p.Ser4009Gly) c.9865A>G (p.Ser3289Gly) | |
2 | g.169154601T>G | CA349137590 | LRP2 | c.12154A>C (p.Ser4052Arg) c.3054A>C c.1184-2A>C (n.1184-2A>C) c.12025A>C (p.Ser4009Arg) c.9865A>C (p.Ser3289Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154601T= | CA1306305743 | LRP2 | c.12154A= (p.Ser4052=) c.3054A= c.1184-2A= (n.1184-2A=) c.12025A= (p.Ser4009=) c.9865A= (p.Ser3289=) | |
2 | g.169154602A>C | CA429922650 | LRP2 | c.12153T>G (p.Gly4051=) c.3053T>G c.1184-3T>G (n.1184-3T>G) c.12024T>G (p.Gly4008=) c.9864T>G (p.Gly3288=) | |
2 | g.169154602A>G | CA429922652 | LRP2 | c.12153T>C (p.Gly4051=) c.3053T>C c.1184-3T>C (n.1184-3T>C) c.12024T>C (p.Gly4008=) c.9864T>C (p.Gly3288=) | |
2 | g.169154602A>T | CA429922653 | LRP2 | c.12153T>A (p.Gly4051=) c.3053T>A c.1184-3T>A (n.1184-3T>A) c.12024T>A (p.Gly4008=) c.9864T>A (p.Gly3288=) | |
2 | g.169154603C>A | CA349137592 | LRP2 | c.12152G>T (p.Gly4051Val) c.3052G>T c.1184-4G>T (n.1184-4G>T) c.12023G>T (p.Gly4008Val) c.9863G>T (p.Gly3288Val) | dbSNP |
2 | g.169154603C= | CA1306305750 | LRP2 | c.12152G= (p.Gly4051=) c.3052G= c.1184-4G= (n.1184-4G=) c.12023G= (p.Gly4008=) c.9863G= (p.Gly3288=) | |
2 | g.169154603C>G | CA349137594 | LRP2 | c.12152G>C (p.Gly4051Ala) c.3052G>C c.1184-4G>C (n.1184-4G>C) c.12023G>C (p.Gly4008Ala) c.9863G>C (p.Gly3288Ala) | |
2 | g.169154603C>T | CA349137596 | LRP2 | c.12152G>A (p.Gly4051Asp) c.3052G>A c.1184-4G>A (n.1184-4G>A) c.12023G>A (p.Gly4008Asp) c.9863G>A (p.Gly3288Asp) | gnomAD v4 |
2 | g.169154604C>A | CA349137597 | LRP2 | c.12152-1G>T (n.12152-1G>T) c.3052-1G>T c.1184-5G>T (n.1184-5G>T) c.12023-1G>T (n.12023-1G>T) c.9863-1G>T (n.9863-1G>T) | |
2 | g.169154604C>G | CA349137599 | LRP2 | c.12152-1G>C (n.12152-1G>C) c.3052-1G>C c.1184-5G>C (n.1184-5G>C) c.12023-1G>C (n.12023-1G>C) c.9863-1G>C (n.9863-1G>C) | |
2 | g.169154604C>T | CA349137601 | LRP2 | c.12152-1G>A (n.12152-1G>A) c.3052-1G>A c.1184-5G>A (n.1184-5G>A) c.12023-1G>A (n.12023-1G>A) c.9863-1G>A (n.9863-1G>A) | |
2 | g.169154605T>A | CA349137607 | LRP2 | c.12152-2A>T (n.12152-2A>T) c.3052-2A>T c.1184-6A>T (n.1184-6A>T) c.12023-2A>T (n.12023-2A>T) c.9863-2A>T (n.9863-2A>T) | |
2 | g.169154605T>C | CA349137605 | LRP2 | c.12152-2A>G (n.12152-2A>G) c.3052-2A>G c.1184-6A>G (n.1184-6A>G) c.12023-2A>G (n.12023-2A>G) c.9863-2A>G (n.9863-2A>G) | |
2 | g.169154605T>G | CA349137603 | LRP2 | c.12152-2A>C (n.12152-2A>C) c.3052-2A>C c.1184-6A>C (n.1184-6A>C) c.12023-2A>C (n.12023-2A>C) c.9863-2A>C (n.9863-2A>C) | |
2 | g.169154607T>C | CA2661815137 | LRP2 | c.12152-4A>G (n.12152-4A>G) c.3052-4A>G c.1184-8A>G (n.1184-8A>G) c.12023-4A>G (n.12023-4A>G) c.9863-4A>G (n.9863-4A>G) | ClinVar gnomAD v4 |
2 | g.169154607_169154611delinsTAAAC | CA1306305752 | LRP2 | c.12152-8_12152-4delinsGTTTA (n.12152-8_12152-4delinsGTTTA) c.3052-8_3052-4delinsGTTTA c.1184-12_1184-8delinsGTTTA (n.1184-12_1184-8delinsGTTTA) c.12023-8_12023-4delinsGTTTA (n.12023-8_12023-4delinsGTTTA) c.9863-8_9863-4delinsGTTTA (n.9863-8_9863-4delinsGTTTA) | |
2 | g.169154610del | CA2661815138 | LRP2 | c.12152-5del (n.12152-5del) c.3052-5del c.1184-9del (n.1184-9del) c.12023-5del (n.12023-5del) c.9863-5del (n.9863-5del) | gnomAD v4 |
2 | g.169154615_169154618del | CA537541140 | LRP2 | c.12152-8_12152-5del (n.12152-8_12152-5del) c.3052-8_3052-5del c.1184-12_1184-9del (n.1184-12_1184-9del) c.12023-8_12023-5del (n.12023-8_12023-5del) c.9863-8_9863-5del (n.9863-8_9863-5del) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154611C>T | CA2577149106 | LRP2 | c.12152-8G>A (n.12152-8G>A) c.3052-8G>A c.1184-12G>A (n.1184-12G>A) c.12023-8G>A (n.12023-8G>A) c.9863-8G>A (n.9863-8G>A) | |
2 | g.169154614del | CA2661815139 | LRP2 | c.12152-9del (n.12152-9del) c.3052-9del c.1184-13del (n.1184-13del) c.12023-9del (n.12023-9del) c.9863-9del (n.9863-9del) | gnomAD v4 |
2 | g.169154615C>A | CA1952867 | LRP2 | c.12152-12G>T (n.12152-12G>T) c.3052-12G>T c.1184-16G>T (n.1184-16G>T) c.12023-12G>T (n.12023-12G>T) c.9863-12G>T (n.9863-12G>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154615C= | CA1306305757 | LRP2 | c.12152-12G= (n.12152-12G=) c.3052-12G= c.1184-16G= (n.1184-16G=) c.12023-12G= (n.12023-12G=) c.9863-12G= (n.9863-12G=) | |
2 | g.169154615C>T | CA1952866 | LRP2 | c.12152-12G>A (n.12152-12G>A) c.3052-12G>A c.1184-16G>A (n.1184-16G>A) c.12023-12G>A (n.12023-12G>A) c.9863-12G>A (n.9863-12G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154616A>C | CA2661815140 | LRP2 | c.12152-13T>G (n.12152-13T>G) c.3052-13T>G c.1184-17T>G (n.1184-17T>G) c.12023-13T>G (n.12023-13T>G) c.9863-13T>G (n.9863-13T>G) | gnomAD v4 |
2 | g.169154616A>G | CA2577149107 | LRP2 | c.12152-13T>C (n.12152-13T>C) c.3052-13T>C c.1184-17T>C (n.1184-17T>C) c.12023-13T>C (n.12023-13T>C) c.9863-13T>C (n.9863-13T>C) | ClinVar gnomAD v4 |
2 | g.169154617A= | CA1306305763 | LRP2 | c.12152-14T= (n.12152-14T=) c.3052-14T= c.1184-18T= (n.1184-18T=) c.12023-14T= (n.12023-14T=) c.9863-14T= (n.9863-14T=) | |
2 | g.169154617A>C | CA1039047849 | LRP2 | c.12152-14T>G (n.12152-14T>G) c.3052-14T>G c.1184-18T>G (n.1184-18T>G) c.12023-14T>G (n.12023-14T>G) c.9863-14T>G (n.9863-14T>G) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154618A= | CA1306305765 | LRP2 | c.12152-15T= (n.12152-15T=) c.3052-15T= c.1184-19T= (n.1184-19T=) c.12023-15T= (n.12023-15T=) c.9863-15T= (n.9863-15T=) | |
2 | g.169154618A>C | CA537541145 | LRP2 | c.12152-15T>G (n.12152-15T>G) c.3052-15T>G c.1184-19T>G (n.1184-19T>G) c.12023-15T>G (n.12023-15T>G) c.9863-15T>G (n.9863-15T>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154619G>A | CA537541146 | LRP2 | c.12152-16C>T (n.12152-16C>T) c.3052-16C>T c.1184-20C>T (n.1184-20C>T) c.12023-16C>T (n.12023-16C>T) c.9863-16C>T (n.9863-16C>T) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154619G= | CA1306305771 | LRP2 | c.12152-16C= (n.12152-16C=) c.3052-16C= c.1184-20C= (n.1184-20C=) c.12023-16C= (n.12023-16C=) c.9863-16C= (n.9863-16C=) | |
2 | g.169154621G>T | CA2661815141 | LRP2 | c.12152-18C>A (n.12152-18C>A) c.3052-18C>A c.1184-22C>A (n.1184-22C>A) c.12023-18C>A (n.12023-18C>A) c.9863-18C>A (n.9863-18C>A) | ClinVar gnomAD v4 |
2 | g.169154622C>A | CA647677048 | LRP2 | c.12152-19G>T (n.12152-19G>T) c.3052-19G>T c.1184-23G>T (n.1184-23G>T) c.12023-19G>T (n.12023-19G>T) c.9863-19G>T (n.9863-19G>T) | COSMIC |
2 | g.169154622C= | CA1306305773 | LRP2 | c.12152-19G= (n.12152-19G=) c.3052-19G= c.1184-23G= (n.1184-23G=) c.12023-19G= (n.12023-19G=) c.9863-19G= (n.9863-19G=) | |
2 | g.169154622C>G | CA2661815142 | LRP2 | c.12152-19G>C (n.12152-19G>C) c.3052-19G>C c.1184-23G>C (n.1184-23G>C) c.12023-19G>C (n.12023-19G>C) c.9863-19G>C (n.9863-19G>C) | gnomAD v4 |
2 | g.169154622C>T | CA1039047851 | LRP2 | c.12152-19G>A (n.12152-19G>A) c.3052-19G>A c.1184-23G>A (n.1184-23G>A) c.12023-19G>A (n.12023-19G>A) c.9863-19G>A (n.9863-19G>A) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154623T>C | CA1952868 | LRP2 | c.12152-20A>G (n.12152-20A>G) c.3052-20A>G c.1184-24A>G (n.1184-24A>G) c.12023-20A>G (n.12023-20A>G) c.9863-20A>G (n.9863-20A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154623T= | CA1306305776 | LRP2 | c.12152-20A= (n.12152-20A=) c.3052-20A= c.1184-24A= (n.1184-24A=) c.12023-20A= (n.12023-20A=) c.9863-20A= (n.9863-20A=) | |
2 | g.169154624A>G | CA2661815143 | LRP2 | c.12152-21T>C (n.12152-21T>C) c.3052-21T>C c.1184-25T>C (n.1184-25T>C) c.12023-21T>C (n.12023-21T>C) c.9863-21T>C (n.9863-21T>C) | gnomAD v4 |
2 | g.169154625C>T | CA2661815144 | LRP2 | c.12152-22G>A (n.12152-22G>A) c.3052-22G>A c.1184-26G>A (n.1184-26G>A) c.12023-22G>A (n.12023-22G>A) c.9863-22G>A (n.9863-22G>A) | gnomAD v4 |
2 | g.169154626T>C | CA537541148 | LRP2 | c.12152-23A>G (n.12152-23A>G) c.3052-23A>G c.1184-27A>G (n.1184-27A>G) c.12023-23A>G (n.12023-23A>G) c.9863-23A>G (n.9863-23A>G) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154626T= | CA1306305779 | LRP2 | c.12152-23A= (n.12152-23A=) c.3052-23A= c.1184-27A= (n.1184-27A=) c.12023-23A= (n.12023-23A=) c.9863-23A= (n.9863-23A=) | |
2 | g.169154627T>A | CA2577149108 | LRP2 | c.12152-24A>T (n.12152-24A>T) c.3052-24A>T c.1184-28A>T (n.1184-28A>T) c.12023-24A>T (n.12023-24A>T) c.9863-24A>T (n.9863-24A>T) | |
2 | g.169154628T>C | CA2577149109 | LRP2 | c.12152-25A>G (n.12152-25A>G) c.3052-25A>G c.1184-29A>G (n.1184-29A>G) c.12023-25A>G (n.12023-25A>G) c.9863-25A>G (n.9863-25A>G) | |
2 | g.169154629A= | CA1306305781 | LRP2 | c.12152-26T= (n.12152-26T=) c.3052-26T= c.1184-30T= (n.1184-30T=) c.12023-26T= (n.12023-26T=) c.9863-26T= (n.9863-26T=) | |
2 | g.169154629A>C | CA2661815145 | LRP2 | c.12152-26T>G (n.12152-26T>G) c.3052-26T>G c.1184-30T>G (n.1184-30T>G) c.12023-26T>G (n.12023-26T>G) c.9863-26T>G (n.9863-26T>G) | gnomAD v4 |
2 | g.169154629A>T | CA1306305783 | LRP2 | c.12152-26T>A (n.12152-26T>A) c.3052-26T>A c.1184-30T>A (n.1184-30T>A) c.12023-26T>A (n.12023-26T>A) c.9863-26T>A (n.9863-26T>A) | dbSNP gnomAD v4 |
2 | g.169154630T>C | CA1952870 | LRP2 | c.12152-27A>G (n.12152-27A>G) c.3052-27A>G c.1184-31A>G (n.1184-31A>G) c.12023-27A>G (n.12023-27A>G) c.9863-27A>G (n.9863-27A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154630T>G | CA1952869 | LRP2 | c.12152-27A>C (n.12152-27A>C) c.3052-27A>C c.1184-31A>C (n.1184-31A>C) c.12023-27A>C (n.12023-27A>C) c.9863-27A>C (n.9863-27A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154630T= | CA1306305784 | LRP2 | c.12152-27A= (n.12152-27A=) c.3052-27A= c.1184-31A= (n.1184-31A=) c.12023-27A= (n.12023-27A=) c.9863-27A= (n.9863-27A=) | |
2 | g.169154630_169154631insATAGGAAAGTATAATT | CA2830543248 | LRP2 | c.12152-27_12152-26insATTATACTTTCCTATA (n.12152-27_12152-26insATTATACTTTCCTATA) c.3052-27_3052-26insATTATACTTTCCTATA c.1184-31_1184-30insATTATACTTTCCTATA (n.1184-31_1184-30insATTATACTTTCCTATA) c.12023-27_12023-26insATTATACTTTCCTATA (n.12023-27_12023-26insATTATACTTTCCTATA) c.9863-27_9863-26insATTATACTTTCCTATA (n.9863-27_9863-26insATTATACTTTCCTATA) | |
2 | g.169154631C>T | CA2661815146 | LRP2 | c.12152-28G>A (n.12152-28G>A) c.3052-28G>A c.1184-32G>A (n.1184-32G>A) c.12023-28G>A (n.12023-28G>A) c.9863-28G>A (n.9863-28G>A) | gnomAD v4 |
2 | g.169154631_169154632insAAACAGATAAAGTAGCCCTT | CA2830543249 | LRP2 | c.12152-29_12152-28insAAGGGCTACTTTATCTGTTT (n.12152-29_12152-28insAAGGGCTACTTTATCTGTTT) c.3052-29_3052-28insAAGGGCTACTTTATCTGTTT c.1184-33_1184-32insAAGGGCTACTTTATCTGTTT (n.1184-33_1184-32insAAGGGCTACTTTATCTGTTT) c.12023-29_12023-28insAAGGGCTACTTTATCTGTTT (n.12023-29_12023-28insAAGGGCTACTTTATCTGTTT) c.9863-29_9863-28insAAGGGCTACTTTATCTGTTT (n.9863-29_9863-28insAAGGGCTACTTTATCTGTTT) | |
2 | g.169154632T>A | CA1952871 | LRP2 | c.12152-29A>T (n.12152-29A>T) c.3052-29A>T c.1184-33A>T (n.1184-33A>T) c.12023-29A>T (n.12023-29A>T) c.9863-29A>T (n.9863-29A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154632T= | CA1306305787 | LRP2 | c.12152-29A= (n.12152-29A=) c.3052-29A= c.1184-33A= (n.1184-33A=) c.12023-29A= (n.12023-29A=) c.9863-29A= (n.9863-29A=) | |
2 | g.169154633G>T | CA2661815147 | LRP2 | c.12152-30C>A (n.12152-30C>A) c.3052-30C>A c.1184-34C>A (n.1184-34C>A) c.12023-30C>A (n.12023-30C>A) c.9863-30C>A (n.9863-30C>A) | gnomAD v4 |
2 | g.169154636T>G | CA2661815148 | LRP2 | c.12152-33A>C (n.12152-33A>C) c.3052-33A>C c.1184-37A>C (n.1184-37A>C) c.12023-33A>C (n.12023-33A>C) c.9863-33A>C (n.9863-33A>C) | gnomAD v4 |
2 | g.169154637G>T | CA2661815149 | LRP2 | c.12152-34C>A (n.12152-34C>A) c.3052-34C>A c.1184-38C>A (n.1184-38C>A) c.12023-34C>A (n.12023-34C>A) c.9863-34C>A (n.9863-34C>A) | gnomAD v4 |
2 | g.169154640T>C | CA2661815150 | LRP2 | c.12152-37A>G (n.12152-37A>G) c.3052-37A>G c.1184-41A>G (n.1184-41A>G) c.12023-37A>G (n.12023-37A>G) c.9863-37A>G (n.9863-37A>G) | gnomAD v4 |
2 | g.169154642A= | CA1306305791 | LRP2 | c.12152-39T= (n.12152-39T=) c.3052-39T= c.1184-43T= (n.1184-43T=) c.12023-39T= (n.12023-39T=) c.9863-39T= (n.9863-39T=) | |
2 | g.169154642A>G | CA1039047855 | LRP2 | c.12152-39T>C (n.12152-39T>C) c.3052-39T>C c.1184-43T>C (n.1184-43T>C) c.12023-39T>C (n.12023-39T>C) c.9863-39T>C (n.9863-39T>C) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154644A= | CA1306305795 | LRP2 | c.12152-41T= (n.12152-41T=) c.3052-41T= c.1184-45T= (n.1184-45T=) c.12023-41T= (n.12023-41T=) c.9863-41T= (n.9863-41T=) | |
2 | g.169154644A>G | CA59898214 | LRP2 | c.12152-41T>C (n.12152-41T>C) c.3052-41T>C c.1184-45T>C (n.1184-45T>C) c.12023-41T>C (n.12023-41T>C) c.9863-41T>C (n.9863-41T>C) | dbSNP gnomAD v4 |