Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169154544A>CCA349137377LRP2c.12211T>G (p.Ser4071Ala)
c.3111T>G
c.1239T>G (p.His413Gln)
c.12082T>G (p.Ser4028Ala)
c.9922T>G (p.Ser3308Ala)
2g.169154544A>GCA349137379LRP2c.12211T>C (p.Ser4071Pro)
c.3111T>C
c.1239T>C (p.His413=)
c.12082T>C (p.Ser4028Pro)
c.9922T>C (p.Ser3308Pro)
2g.169154544A>TCA349137381LRP2c.12211T>A (p.Ser4071Thr)
c.3111T>A
c.1239T>A (p.His413Gln)
c.12082T>A (p.Ser4028Thr)
c.9922T>A (p.Ser3308Thr)
2g.169154545T>ACA429922589LRP2c.12210A>T (p.Ser4070=)
c.3110A>T
c.1238A>T (p.His413Leu)
c.12081A>T (p.Ser4027=)
c.9921A>T (p.Ser3307=)
2g.169154545T>CCA429922588LRP2c.12210A>G (p.Ser4070=)
c.3110A>G
c.1238A>G (p.His413Arg)
c.12081A>G (p.Ser4027=)
c.9921A>G (p.Ser3307=)
ClinVar
2g.169154545T>GCA429922587LRP2c.12210A>C (p.Ser4070=)
c.3110A>C
c.1238A>C (p.His413Pro)
c.12081A>C (p.Ser4027=)
c.9921A>C (p.Ser3307=)
2g.169154546G>ACA349137383LRP2c.12209C>T (p.Ser4070Leu)
c.3109C>T
c.1237C>T (p.His413Tyr)
c.12080C>T (p.Ser4027Leu)
c.9920C>T (p.Ser3307Leu)
dbSNP
2g.169154546G>CCA349137385LRP2c.12209C>G (p.Ser4070Ter)
c.3109C>G
c.1237C>G (p.His413Asp)
c.12080C>G (p.Ser4027Ter)
c.9920C>G (p.Ser3307Ter)
COSMIC
2g.169154546G=CA1306305666LRP2c.12209C= (p.Ser4070=)
c.3109C=
c.1237C= (p.His413=)
c.12080C= (p.Ser4027=)
c.9920C= (p.Ser3307=)
2g.169154546G>TCA349137387LRP2c.12209C>A (p.Ser4070Ter)
c.3109C>A
c.1237C>A (p.His413Asn)
c.12080C>A (p.Ser4027Ter)
c.9920C>A (p.Ser3307Ter)
2g.169154547A>CCA349137389LRP2c.12208T>G (p.Ser4070Ala)
c.3108T>G
c.1236T>G (p.Ser412=)
c.12079T>G (p.Ser4027Ala)
c.9919T>G (p.Ser3307Ala)
2g.169154547A>GCA349137390LRP2c.12208T>C (p.Ser4070Pro)
c.3108T>C
c.1236T>C (p.Ser412=)
c.12079T>C (p.Ser4027Pro)
c.9919T>C (p.Ser3307Pro)
2g.169154547A>TCA349137393LRP2c.12208T>A (p.Ser4070Thr)
c.3108T>A
c.1236T>A (p.Ser412=)
c.12079T>A (p.Ser4027Thr)
c.9919T>A (p.Ser3307Thr)
2g.169154548G>ACA429922590LRP2c.12207C>T (p.Leu4069=)
c.3107C>T
c.1235C>T (p.Ser412Phe)
c.12078C>T (p.Leu4026=)
c.9918C>T (p.Leu3306=)
2g.169154548G>CCA429922591LRP2c.12207C>G (p.Leu4069=)
c.3107C>G
c.1235C>G (p.Ser412Cys)
c.12078C>G (p.Leu4026=)
c.9918C>G (p.Leu3306=)
2g.169154548G>TCA429922592LRP2c.12207C>A (p.Leu4069=)
c.3107C>A
c.1235C>A (p.Ser412Tyr)
c.12078C>A (p.Leu4026=)
c.9918C>A (p.Leu3306=)
2g.169154549A>CCA349137398LRP2c.12206T>G (p.Leu4069Arg)
c.3106T>G
c.1234T>G (p.Ser412Ala)
c.12077T>G (p.Leu4026Arg)
c.9917T>G (p.Leu3306Arg)
2g.169154549A>GCA349137394LRP2c.12206T>C (p.Leu4069Pro)
c.3106T>C
c.1234T>C (p.Ser412Pro)
c.12077T>C (p.Leu4026Pro)
c.9917T>C (p.Leu3306Pro)
2g.169154549A>TCA349137396LRP2c.12206T>A (p.Leu4069His)
c.3106T>A
c.1234T>A (p.Ser412Thr)
c.12077T>A (p.Leu4026His)
c.9917T>A (p.Leu3306His)
2g.169154550G>ACA349137400LRP2c.12205C>T (p.Leu4069Phe)
c.3105C>T
c.1233C>T (p.Ile411=)
c.12076C>T (p.Leu4026Phe)
c.9916C>T (p.Leu3306Phe)
gnomAD v4
2g.169154550G>CCA349137401LRP2c.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
2g.169154550G=CA1306305668LRP2c.12205C= (p.Leu4069=)
c.3105C=
c.1233C= (p.Ile411=)
c.12076C= (p.Leu4026=)
c.9916C= (p.Leu3306=)
2g.169154550G>TCA349137403LRP2c.12205C>A (p.Leu4069Ile)
c.3105C>A
c.1233C>A (p.Ile411=)
c.12076C>A (p.Leu4026Ile)
c.9916C>A (p.Leu3306Ile)
2g.169154551A>CCA349137405LRP2c.12204T>G (p.Asn4068Lys)
c.3104T>G
c.1232T>G (p.Ile411Ser)
c.12075T>G (p.Asn4025Lys)
c.9915T>G (p.Asn3305Lys)
2g.169154551A>GCA429922593LRP2c.12204T>C (p.Asn4068=)
c.3104T>C
c.1232T>C (p.Ile411Thr)
c.12075T>C (p.Asn4025=)
c.9915T>C (p.Asn3305=)
2g.169154551A>TCA349137407LRP2c.12204T>A (p.Asn4068Lys)
c.3104T>A
c.1232T>A (p.Ile411Asn)
c.12075T>A (p.Asn4025Lys)
c.9915T>A (p.Asn3305Lys)
2g.169154552T>ACA349137408LRP2c.12203A>T (p.Asn4068Ile)
c.3103A>T
c.1231A>T (p.Ile411Phe)
c.12074A>T (p.Asn4025Ile)
c.9914A>T (p.Asn3305Ile)
2g.169154552T>CCA349137410LRP2c.12203A>G (p.Asn4068Ser)
c.3103A>G
c.1231A>G (p.Ile411Val)
c.12074A>G (p.Asn4025Ser)
c.9914A>G (p.Asn3305Ser)
2g.169154552T>GCA349137412LRP2c.12203A>C (p.Asn4068Thr)
c.3103A>C
c.1231A>C (p.Ile411Leu)
c.12074A>C (p.Asn4025Thr)
c.9914A>C (p.Asn3305Thr)
2g.169154553T>ACA349137413LRP2c.12202A>T (p.Asn4068Tyr)
c.3102A>T
c.1230A>T (p.Ile410=)
c.12073A>T (p.Asn4025Tyr)
c.9913A>T (p.Asn3305Tyr)
2g.169154553T>CCA349137414LRP2c.12202A>G (p.Asn4068Asp)
c.3102A>G
c.1230A>G (p.Ile410Met)
c.12073A>G (p.Asn4025Asp)
c.9913A>G (p.Asn3305Asp)
gnomAD v4
2g.169154553T>GCA349137415LRP2c.12202A>C (p.Asn4068His)
c.3102A>C
c.1230A>C (p.Ile410=)
c.12073A>C (p.Asn4025His)
c.9913A>C (p.Asn3305His)
2g.169154554A=CA1306305672LRP2c.12201T= (p.Tyr4067=)
c.3101T=
c.1229T= (p.Ile410=)
c.12072T= (p.Tyr4024=)
c.9912T= (p.Tyr3304=)
2g.169154554A>CCA349137418LRP2c.12201T>G (p.Tyr4067Ter)
c.3101T>G
c.1229T>G (p.Ile410Arg)
c.12072T>G (p.Tyr4024Ter)
c.9912T>G (p.Tyr3304Ter)
2g.169154554A>GCA429922594LRP2c.12201T>C (p.Tyr4067=)
c.3101T>C
c.1229T>C (p.Ile410Thr)
c.12072T>C (p.Tyr4024=)
c.9912T>C (p.Tyr3304=)
dbSNP
2g.169154554A>TCA349137416LRP2c.12201T>A (p.Tyr4067Ter)
c.3101T>A
c.1229T>A (p.Ile410Lys)
c.12072T>A (p.Tyr4024Ter)
c.9912T>A (p.Tyr3304Ter)
2g.169154555T>ACA349137421LRP2c.12200A>T (p.Tyr4067Phe)
c.3100A>T
c.1228A>T (p.Ile410Leu)
c.12071A>T (p.Tyr4024Phe)
c.9911A>T (p.Tyr3304Phe)
2g.169154555T>CCA349137422LRP2c.12200A>G (p.Tyr4067Cys)
c.3100A>G
c.1228A>G (p.Ile410Val)
c.12071A>G (p.Tyr4024Cys)
c.9911A>G (p.Tyr3304Cys)
2g.169154555T>GCA349137423LRP2c.12200A>C (p.Tyr4067Ser)
c.3100A>C
c.1228A>C (p.Ile410Leu)
c.12071A>C (p.Tyr4024Ser)
c.9911A>C (p.Tyr3304Ser)
2g.169154556A>CCA349137425LRP2c.12199T>G (p.Tyr4067Asp)
c.3099T>G
c.1227T>G (p.Asn409Lys)
c.12070T>G (p.Tyr4024Asp)
c.9910T>G (p.Tyr3304Asp)
2g.169154556A>GCA349137427LRP2c.12199T>C (p.Tyr4067His)
c.3099T>C
c.1227T>C (p.Asn409=)
c.12070T>C (p.Tyr4024His)
c.9910T>C (p.Tyr3304His)
2g.169154556A>TCA349137428LRP2c.12199T>A (p.Tyr4067Asn)
c.3099T>A
c.1227T>A (p.Asn409Lys)
c.12070T>A (p.Tyr4024Asn)
c.9910T>A (p.Tyr3304Asn)
2g.169154557T>ACA349137432LRP2c.12198A>T (p.Lys4066Asn)
c.3098A>T
c.1226A>T (p.Asn409Ile)
c.12069A>T (p.Lys4023Asn)
c.9909A>T (p.Lys3303Asn)
2g.169154557T>CCA429922595LRP2c.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
2g.169154557T>GCA349137430LRP2c.12198A>C (p.Lys4066Asn)
c.3098A>C
c.1226A>C (p.Asn409Thr)
c.12069A>C (p.Lys4023Asn)
c.9909A>C (p.Lys3303Asn)
2g.169154557T=CA1306305674LRP2c.12198A= (p.Lys4066=)
c.3098A=
c.1226A= (p.Asn409=)
c.12069A= (p.Lys4023=)
c.9909A= (p.Lys3303=)
2g.169154558T>ACA349137434LRP2c.12197A>T (p.Lys4066Ile)
c.3097A>T
c.1225A>T (p.Asn409Tyr)
c.12068A>T (p.Lys4023Ile)
c.9908A>T (p.Lys3303Ile)
2g.169154558T>CCA349137435LRP2c.12197A>G (p.Lys4066Arg)
c.3097A>G
c.1225A>G (p.Asn409Asp)
c.12068A>G (p.Lys4023Arg)
c.9908A>G (p.Lys3303Arg)
2g.169154558T>GCA349137437LRP2c.12197A>C (p.Lys4066Thr)
c.3097A>C
c.1225A>C (p.Asn409His)
c.12068A>C (p.Lys4023Thr)
c.9908A>C (p.Lys3303Thr)
2g.169154559T>ACA349137440LRP2c.12196A>T (p.Lys4066Ter)
c.3096A>T
c.1224A>T (p.Glu408Asp)
c.12067A>T (p.Lys4023Ter)
c.9907A>T (p.Lys3303Ter)
2g.169154559T>CCA349137441LRP2c.12196A>G (p.Lys4066Glu)
c.3096A>G
c.1224A>G (p.Glu408=)
c.12067A>G (p.Lys4023Glu)
c.9907A>G (p.Lys3303Glu)
2g.169154559T>GCA349137443LRP2c.12196A>C (p.Lys4066Gln)
c.3096A>C
c.1224A>C (p.Glu408Asp)
c.12067A>C (p.Lys4023Gln)
c.9907A>C (p.Lys3303Gln)
2g.169154560T>ACA429922596LRP2c.12195A>T (p.Arg4065=)
c.3095A>T
c.1223A>T (p.Glu408Val)
c.12066A>T (p.Arg4022=)
c.9906A>T (p.Arg3302=)
dbSNP
2g.169154560T>CCA429922597LRP2c.12195A>G (p.Arg4065=)
c.3095A>G
c.1223A>G (p.Glu408Gly)
c.12066A>G (p.Arg4022=)
c.9906A>G (p.Arg3302=)
dbSNP
2g.169154560T>GCA429922598LRP2c.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
2g.169154560T=CA1306305677LRP2c.12195A= (p.Arg4065=)
c.3095A=
c.1223A= (p.Glu408=)
c.12066A= (p.Arg4022=)
c.9906A= (p.Arg3302=)
2g.169154561C>ACA349137445LRP2c.12194G>T (p.Arg4065Leu)
c.3094G>T
c.1222G>T (p.Glu408Ter)
c.12065G>T (p.Arg4022Leu)
c.9905G>T (p.Arg3302Leu)
2g.169154561C=CA1306305680LRP2c.12194G= (p.Arg4065=)
c.3094G=
c.1222G= (p.Glu408=)
c.12065G= (p.Arg4022=)
c.9905G= (p.Arg3302=)
2g.169154561C>GCA349137448LRP2c.12194G>C (p.Arg4065Pro)
c.3094G>C
c.1222G>C (p.Glu408Gln)
c.12065G>C (p.Arg4022Pro)
c.9905G>C (p.Arg3302Pro)
2g.169154561C>TCA59898142LRP2c.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
2g.169154562G>ACA349137449LRP2c.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
2g.169154562G>CCA349137450LRP2c.12193C>G (p.Arg4065Gly)
c.3093C>G
c.1221C>G (p.Phe407Leu)
c.12064C>G (p.Arg4022Gly)
c.9904C>G (p.Arg3302Gly)
dbSNP
2g.169154562G=CA1306305687LRP2c.12193C= (p.Arg4065=)
c.3093C=
c.1221C= (p.Phe407=)
c.12064C= (p.Arg4022=)
c.9904C= (p.Arg3302=)
2g.169154562G>TCA429922599LRP2c.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
2g.169154563A>CCA349137452LRP2c.12192T>G (p.Ile4064Met)
c.3092T>G
c.1220T>G (p.Phe407Cys)
c.12063T>G (p.Ile4021Met)
c.9903T>G (p.Ile3301Met)
2g.169154563A>GCA429922600LRP2c.12192T>C (p.Ile4064=)
c.3092T>C
c.1220T>C (p.Phe407Ser)
c.12063T>C (p.Ile4021=)
c.9903T>C (p.Ile3301=)
2g.169154563A>TCA429922601LRP2c.12192T>A (p.Ile4064=)
c.3092T>A
c.1220T>A (p.Phe407Tyr)
c.12063T>A (p.Ile4021=)
c.9903T>A (p.Ile3301=)
2g.169154564A>CCA349137453LRP2c.12191T>G (p.Ile4064Ser)
c.3091T>G
c.1219T>G (p.Phe407Val)
c.12062T>G (p.Ile4021Ser)
c.9902T>G (p.Ile3301Ser)
2g.169154564A>GCA349137454LRP2c.12191T>C (p.Ile4064Thr)
c.3091T>C
c.1219T>C (p.Phe407Leu)
c.12062T>C (p.Ile4021Thr)
c.9902T>C (p.Ile3301Thr)
2g.169154564A>TCA349137455LRP2c.12191T>A (p.Ile4064Asn)
c.3091T>A
c.1219T>A (p.Phe407Ile)
c.12062T>A (p.Ile4021Asn)
c.9902T>A (p.Ile3301Asn)
COSMIC
2g.169154565T>ACA349137457LRP2c.12190A>T (p.Ile4064Phe)
c.3090A>T
c.1218A>T (p.Glu406Asp)
c.12061A>T (p.Ile4021Phe)
c.9901A>T (p.Ile3301Phe)
gnomAD v4
2g.169154565T>CCA349137459LRP2c.12190A>G (p.Ile4064Val)
c.3090A>G
c.1218A>G (p.Glu406=)
c.12061A>G (p.Ile4021Val)
c.9901A>G (p.Ile3301Val)
2g.169154565T>GCA349137460LRP2c.12190A>C (p.Ile4064Leu)
c.3090A>C
c.1218A>C (p.Glu406Asp)
c.12061A>C (p.Ile4021Leu)
c.9901A>C (p.Ile3301Leu)
2g.169154566T>ACA429922602LRP2c.12189A>T (p.Arg4063=)
c.3089A>T
c.1217A>T (p.Glu406Val)
c.12060A>T (p.Arg4020=)
c.9900A>T (p.Arg3300=)
2g.169154566T>CCA429922603LRP2c.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
2g.169154566T>GCA429922604LRP2c.12189A>C (p.Arg4063=)
c.3089A>C
c.1217A>C (p.Glu406Ala)
c.12060A>C (p.Arg4020=)
c.9900A>C (p.Arg3300=)
2g.169154567C>ACA349137461LRP2c.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
2g.169154567C=CA1306305691LRP2c.12188G= (p.Arg4063=)
c.3088G=
c.1216G= (p.Glu406=)
c.12059G= (p.Arg4020=)
c.9899G= (p.Arg3300=)
2g.169154567C>GCA349137462LRP2c.12188G>C (p.Arg4063Pro)
c.3088G>C
c.1216G>C (p.Glu406Gln)
c.12059G>C (p.Arg4020Pro)
c.9899G>C (p.Arg3300Pro)
2g.169154567C>TCA1952860LRP2c.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
2g.169154568G>ACA349137464LRP2c.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
2g.169154568G>CCA1952861LRP2c.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
2g.169154568G=CA1306305694LRP2c.12187C= (p.Arg4063=)
c.3087C=
c.1215C= (p.Ser405=)
c.12058C= (p.Arg4020=)
c.9898C= (p.Arg3300=)
2g.169154568G>TCA429922606LRP2c.12187C>A (p.Arg4063=)
c.3087C>A
c.1215C>A (p.Ser405=)
c.12058C>A (p.Arg4020=)
c.9898C>A (p.Arg3300=)
2g.169154569G>ACA429922607LRP2c.12186C>T (p.Val4062=)
c.3086C>T
c.1214C>T (p.Ser405Phe)
c.12057C>T (p.Val4019=)
c.9897C>T (p.Val3299=)
COSMIC
2g.169154569G>CCA1952862LRP2c.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
2g.169154569G=CA1306305698LRP2c.12186C= (p.Val4062=)
c.3086C=
c.1214C= (p.Ser405=)
c.12057C= (p.Val4019=)
c.9897C= (p.Val3299=)
2g.169154569G>TCA429922608LRP2c.12186C>A (p.Val4062=)
c.3086C>A
c.1214C>A (p.Ser405Tyr)
c.12057C>A (p.Val4019=)
c.9897C>A (p.Val3299=)
2g.169154570A>CCA349137468LRP2c.12185T>G (p.Val4062Gly)
c.3085T>G
c.1213T>G (p.Ser405Ala)
c.12056T>G (p.Val4019Gly)
c.9896T>G (p.Val3299Gly)
2g.169154570A>GCA349137469LRP2c.12185T>C (p.Val4062Ala)
c.3085T>C
c.1213T>C (p.Ser405Pro)
c.12056T>C (p.Val4019Ala)
c.9896T>C (p.Val3299Ala)
2g.169154570A>TCA349137471LRP2c.12185T>A (p.Val4062Asp)
c.3085T>A
c.1213T>A (p.Ser405Thr)
c.12056T>A (p.Val4019Asp)
c.9896T>A (p.Val3299Asp)
2g.169154571C>ACA349137474LRP2c.12184G>T (p.Val4062Phe)
c.3084G>T
c.1212G>T (p.Met404Ile)
c.12055G>T (p.Val4019Phe)
c.9895G>T (p.Val3299Phe)
2g.169154571C>GCA349137475LRP2c.12184G>C (p.Val4062Leu)
c.3084G>C
c.1212G>C (p.Met404Ile)
c.12055G>C (p.Val4019Leu)
c.9895G>C (p.Val3299Leu)
2g.169154571C>TCA349137477LRP2c.12184G>A (p.Val4062Ile)
c.3084G>A
c.1212G>A (p.Met404Ile)
c.12055G>A (p.Val4019Ile)
c.9895G>A (p.Val3299Ile)
2g.169154572A=CA1306305702LRP2c.12183T= (p.Asn4061=)
c.3083T=
c.1211T= (p.Met404=)
c.12054T= (p.Asn4018=)
c.9894T= (p.Asn3298=)
2g.169154572A>CCA349137479LRP2c.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
2g.169154572A>GCA429922609LRP2c.12183T>C (p.Asn4061=)
c.3083T>C
c.1211T>C (p.Met404Thr)
c.12054T>C (p.Asn4018=)
c.9894T>C (p.Asn3298=)
2g.169154572A>TCA349137481LRP2c.12183T>A (p.Asn4061Lys)
c.3083T>A
c.1211T>A (p.Met404Lys)
c.12054T>A (p.Asn4018Lys)
c.9894T>A (p.Asn3298Lys)
2g.169154573T>ACA349137483LRP2c.12182A>T (p.Asn4061Ile)
c.3082A>T
c.1210A>T (p.Met404Leu)
c.12053A>T (p.Asn4018Ile)
c.9893A>T (p.Asn3298Ile)
2g.169154573T>CCA1952863LRP2c.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
2g.169154573T>GCA349137486LRP2c.12182A>C (p.Asn4061Thr)
c.3082A>C
c.1210A>C (p.Met404Leu)
c.12053A>C (p.Asn4018Thr)
c.9893A>C (p.Asn3298Thr)
2g.169154573T=CA1306305706LRP2c.12182A= (p.Asn4061=)
c.3082A=
c.1210A= (p.Met404=)
c.12053A= (p.Asn4018=)
c.9893A= (p.Asn3298=)
2g.169154574T>ACA349137488LRP2c.12181A>T (p.Asn4061Tyr)
c.3081A>T
c.1209A>T (p.Thr403=)
c.12052A>T (p.Asn4018Tyr)
c.9892A>T (p.Asn3298Tyr)
2g.169154574T>CCA349137490LRP2c.12181A>G (p.Asn4061Asp)
c.3081A>G
c.1209A>G (p.Thr403=)
c.12052A>G (p.Asn4018Asp)
c.9892A>G (p.Asn3298Asp)
2g.169154574T>GCA349137491LRP2c.12181A>C (p.Asn4061His)
c.3081A>C
c.1209A>C (p.Thr403=)
c.12052A>C (p.Asn4018His)
c.9892A>C (p.Asn3298His)
2g.169154575G>ACA429922610LRP2c.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
2g.169154575G>CCA349137495LRP2c.12180C>G (p.Asp4060Glu)
c.3080C>G
c.1208C>G (p.Thr403Arg)
c.12051C>G (p.Asp4017Glu)
c.9891C>G (p.Asp3297Glu)
2g.169154575G=CA1306305708LRP2c.12180C= (p.Asp4060=)
c.3080C=
c.1208C= (p.Thr403=)
c.12051C= (p.Asp4017=)
c.9891C= (p.Asp3297=)
2g.169154575G>TCA349137493LRP2c.12180C>A (p.Asp4060Glu)
c.3080C>A
c.1208C>A (p.Thr403Lys)
c.12051C>A (p.Asp4017Glu)
c.9891C>A (p.Asp3297Glu)
2g.169154576T>ACA349137497LRP2c.12179A>T (p.Asp4060Val)
c.3079A>T
c.1207A>T (p.Thr403Ser)
c.12050A>T (p.Asp4017Val)
c.9890A>T (p.Asp3297Val)
2g.169154576T>CCA349137499LRP2c.12179A>G (p.Asp4060Gly)
c.3079A>G
c.1207A>G (p.Thr403Ala)
c.12050A>G (p.Asp4017Gly)
c.9890A>G (p.Asp3297Gly)
2g.169154576T>GCA349137500LRP2c.12179A>C (p.Asp4060Ala)
c.3079A>C
c.1207A>C (p.Thr403Pro)
c.12050A>C (p.Asp4017Ala)
c.9890A>C (p.Asp3297Ala)
2g.169154577C>ACA349137502LRP2c.12178G>T (p.Asp4060Tyr)
c.3078G>T
c.1206G>T (p.Leu402=)
c.12049G>T (p.Asp4017Tyr)
c.9889G>T (p.Asp3297Tyr)
2g.169154577C>GCA349137503LRP2c.12178G>C (p.Asp4060His)
c.3078G>C
c.1206G>C (p.Leu402=)
c.12049G>C (p.Asp4017His)
c.9889G>C (p.Asp3297His)
2g.169154577C>TCA349137505LRP2c.12178G>A (p.Asp4060Asn)
c.3078G>A
c.1206G>A (p.Leu402=)
c.12049G>A (p.Asp4017Asn)
c.9889G>A (p.Asp3297Asn)
2g.169154578A>CCA429922611LRP2c.12177T>G (p.Pro4059=)
c.3077T>G
c.1205T>G (p.Leu402Arg)
c.12048T>G (p.Pro4016=)
c.9888T>G (p.Pro3296=)
ClinVar
2g.169154578A>GCA429922613LRP2c.12177T>C (p.Pro4059=)
c.3077T>C
c.1205T>C (p.Leu402Pro)
c.12048T>C (p.Pro4016=)
c.9888T>C (p.Pro3296=)
2g.169154578A>TCA429922612LRP2c.12177T>A (p.Pro4059=)
c.3077T>A
c.1205T>A (p.Leu402Gln)
c.12048T>A (p.Pro4016=)
c.9888T>A (p.Pro3296=)
2g.169154579G>ACA349137510LRP2c.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
2g.169154579G>CCA349137509LRP2c.12176C>G (p.Pro4059Arg)
c.3076C>G
c.1204C>G (p.Leu402Val)
c.12047C>G (p.Pro4016Arg)
c.9887C>G (p.Pro3296Arg)
2g.169154579G>TCA349137507LRP2c.12176C>A (p.Pro4059His)
c.3076C>A
c.1204C>A (p.Leu402Met)
c.12047C>A (p.Pro4016His)
c.9887C>A (p.Pro3296His)
2g.169154580G>ACA349137513LRP2c.12175C>T (p.Pro4059Ser)
c.3075C>T
c.1203C>T (p.Cys401=)
c.12046C>T (p.Pro4016Ser)
c.9886C>T (p.Pro3296Ser)
dbSNP
2g.169154580G>CCA349137514LRP2c.12175C>G (p.Pro4059Ala)
c.3075C>G
c.1203C>G (p.Cys401Trp)
c.12046C>G (p.Pro4016Ala)
c.9886C>G (p.Pro3296Ala)
2g.169154580G=CA1306305710LRP2c.12175C= (p.Pro4059=)
c.3075C=
c.1203C= (p.Cys401=)
c.12046C= (p.Pro4016=)
c.9886C= (p.Pro3296=)
2g.169154580G>TCA349137516LRP2c.12175C>A (p.Pro4059Thr)
c.3075C>A
c.1203C>A (p.Cys401Ter)
c.12046C>A (p.Pro4016Thr)
c.9886C>A (p.Pro3296Thr)
2g.169154581C>ACA429922614LRP2c.12174G>T (p.Leu4058=)
c.3074G>T
c.1202G>T (p.Cys401Phe)
c.12045G>T (p.Leu4015=)
c.9885G>T (p.Leu3295=)
2g.169154581C>GCA429922615LRP2c.12174G>C (p.Leu4058=)
c.3074G>C
c.1202G>C (p.Cys401Ser)
c.12045G>C (p.Leu4015=)
c.9885G>C (p.Leu3295=)
2g.169154581C>TCA429922616LRP2c.12174G>A (p.Leu4058=)
c.3074G>A
c.1202G>A (p.Cys401Tyr)
c.12045G>A (p.Leu4015=)
c.9885G>A (p.Leu3295=)
gnomAD v4
2g.169154582A>CCA349137518LRP2c.12173T>G (p.Leu4058Arg)
c.3073T>G
c.1201T>G (p.Cys401Gly)
c.12044T>G (p.Leu4015Arg)
c.9884T>G (p.Leu3295Arg)
2g.169154582A>GCA349137520LRP2c.12173T>C (p.Leu4058Pro)
c.3073T>C
c.1201T>C (p.Cys401Arg)
c.12044T>C (p.Leu4015Pro)
c.9884T>C (p.Leu3295Pro)
2g.169154582A>TCA349137521LRP2c.12173T>A (p.Leu4058Gln)
c.3073T>A
c.1201T>A (p.Cys401Ser)
c.12044T>A (p.Leu4015Gln)
c.9884T>A (p.Leu3295Gln)
2g.169154583G>ACA1952864LRP2c.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
2g.169154583G>CCA349137524LRP2c.12172C>G (p.Leu4058Val)
c.3072C>G
c.1200C>G (p.Tyr400Ter)
c.12043C>G (p.Leu4015Val)
c.9883C>G (p.Leu3295Val)
2g.169154583G=CA1306305715LRP2c.12172C= (p.Leu4058=)
c.3072C=
c.1200C= (p.Tyr400=)
c.12043C= (p.Leu4015=)
c.9883C= (p.Leu3295=)
2g.169154583G>TCA349137523LRP2c.12172C>A (p.Leu4058Met)
c.3072C>A
c.1200C>A (p.Tyr400Ter)
c.12043C>A (p.Leu4015Met)
c.9883C>A (p.Leu3295Met)
2g.169154584T>ACA429922617LRP2c.12171A>T (p.Leu4057=)
c.3071A>T
c.1199A>T (p.Tyr400Phe)
c.12042A>T (p.Leu4014=)
c.9882A>T (p.Leu3294=)
2g.169154584T>CCA429922618LRP2c.12171A>G (p.Leu4057=)
c.3071A>G
c.1199A>G (p.Tyr400Cys)
c.12042A>G (p.Leu4014=)
c.9882A>G (p.Leu3294=)
gnomAD v4
2g.169154584T>GCA429922619LRP2c.12171A>C (p.Leu4057=)
c.3071A>C
c.1199A>C (p.Tyr400Ser)
c.12042A>C (p.Leu4014=)
c.9882A>C (p.Leu3294=)
2g.169154585A>CCA349137526LRP2c.12170T>G (p.Leu4057Arg)
c.3070T>G
c.1198T>G (p.Tyr400Asp)
c.12041T>G (p.Leu4014Arg)
c.9881T>G (p.Leu3294Arg)
2g.169154585A>GCA349137529LRP2c.12170T>C (p.Leu4057Pro)
c.3070T>C
c.1198T>C (p.Tyr400His)
c.12041T>C (p.Leu4014Pro)
c.9881T>C (p.Leu3294Pro)
2g.169154585A>TCA349137530LRP2c.12170T>A (p.Leu4057Gln)
c.3070T>A
c.1198T>A (p.Tyr400Asn)
c.12041T>A (p.Leu4014Gln)
c.9881T>A (p.Leu3294Gln)
2g.169154586G>ACA429922623LRP2c.12169C>T (p.Leu4057=)
c.3069C>T
c.1197C>T (p.Cys399=)
c.12040C>T (p.Leu4014=)
c.9880C>T (p.Leu3294=)
2g.169154586G>CCA349137531LRP2c.12169C>G (p.Leu4057Val)
c.3069C>G
c.1197C>G (p.Cys399Trp)
c.12040C>G (p.Leu4014Val)
c.9880C>G (p.Leu3294Val)
2g.169154586G>TCA349137533LRP2c.12169C>A (p.Leu4057Ile)
c.3069C>A
c.1197C>A (p.Cys399Ter)
c.12040C>A (p.Leu4014Ile)
c.9880C>A (p.Leu3294Ile)
2g.169154587C>ACA349137534LRP2c.12168G>T (p.Leu4056Phe)
c.3068G>T
c.1196G>T (p.Cys399Phe)
c.12039G>T (p.Leu4013Phe)
c.9879G>T (p.Leu3293Phe)
2g.169154587C>GCA349137535LRP2c.12168G>C (p.Leu4056Phe)
c.3068G>C
c.1196G>C (p.Cys399Ser)
c.12039G>C (p.Leu4013Phe)
c.9879G>C (p.Leu3293Phe)
COSMIC
2g.169154587C>TCA429922624LRP2c.12168G>A (p.Leu4056=)
c.3068G>A
c.1196G>A (p.Cys399Tyr)
c.12039G>A (p.Leu4013=)
c.9879G>A (p.Leu3293=)
2g.169154588A>CCA349137537LRP2c.12167T>G (p.Leu4056Trp)
c.3067T>G
c.1195T>G (p.Cys399Gly)
c.12038T>G (p.Leu4013Trp)
c.9878T>G (p.Leu3293Trp)
2g.169154588A>GCA349137540LRP2c.12167T>C (p.Leu4056Ser)
c.3067T>C
c.1195T>C (p.Cys399Arg)
c.12038T>C (p.Leu4013Ser)
c.9878T>C (p.Leu3293Ser)
gnomAD v4
2g.169154588A>TCA349137538LRP2c.12167T>A (p.Leu4056Ter)
c.3067T>A
c.1195T>A (p.Cys399Ser)
c.12038T>A (p.Leu4013Ter)
c.9878T>A (p.Leu3293Ter)
2g.169154589A=CA1306305718LRP2c.12166T= (p.Leu4056=)
c.3066T=
c.1194T= (p.Cys398=)
c.12037T= (p.Leu4013=)
c.9877T= (p.Leu3293=)
2g.169154589A>CCA349137543LRP2c.12166T>G (p.Leu4056Val)
c.3066T>G
c.1194T>G (p.Cys398Trp)
c.12037T>G (p.Leu4013Val)
c.9877T>G (p.Leu3293Val)
2g.169154589A>GCA59898168LRP2c.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
2g.169154589A>TCA349137544LRP2c.12166T>A (p.Leu4056Met)
c.3066T>A
c.1194T>A (p.Cys398Ter)
c.12037T>A (p.Leu4013Met)
c.9877T>A (p.Leu3293Met)
2g.169154590C>ACA349137546LRP2c.12165G>T (p.Leu4055Phe)
c.3065G>T
c.1193G>T (p.Cys398Phe)
c.12036G>T (p.Leu4012Phe)
c.9876G>T (p.Leu3292Phe)
2g.169154590C=CA1306305724LRP2c.12165G= (p.Leu4055=)
c.3065G=
c.1193G= (p.Cys398=)
c.12036G= (p.Leu4012=)
c.9876G= (p.Leu3292=)
2g.169154590C>GCA1952865LRP2c.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
2g.169154590C>TCA429922629LRP2c.12165G>A (p.Leu4055=)
c.3065G>A
c.1193G>A (p.Cys398Tyr)
c.12036G>A (p.Leu4012=)
c.9876G>A (p.Leu3292=)
2g.169154591A>CCA349137550LRP2c.12164T>G (p.Leu4055Trp)
c.3064T>G
c.1192T>G (p.Cys398Gly)
c.12035T>G (p.Leu4012Trp)
c.9875T>G (p.Leu3292Trp)
2g.169154591A>GCA349137553LRP2c.12164T>C (p.Leu4055Ser)
c.3064T>C
c.1192T>C (p.Cys398Arg)
c.12035T>C (p.Leu4012Ser)
c.9875T>C (p.Leu3292Ser)
2g.169154591A>TCA349137552LRP2c.12164T>A (p.Leu4055Ter)
c.3064T>A
c.1192T>A (p.Cys398Ser)
c.12035T>A (p.Leu4012Ter)
c.9875T>A (p.Leu3292Ter)
2g.169154592A>CCA349137555LRP2c.12163T>G (p.Leu4055Val)
c.3063T>G
c.1191T>G (p.Leu397=)
c.12034T>G (p.Leu4012Val)
c.9874T>G (p.Leu3292Val)
gnomAD v4
2g.169154592A>GCA429922631LRP2c.12163T>C (p.Leu4055=)
c.3063T>C
c.1191T>C (p.Leu397=)
c.12034T>C (p.Leu4012=)
c.9874T>C (p.Leu3292=)
2g.169154592A>TCA349137557LRP2c.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
2g.169154593A=CA1306305728LRP2c.12162T= (p.Pro4054=)
c.3062T=
c.1190T= (p.Leu397=)
c.12033T= (p.Pro4011=)
c.9873T= (p.Pro3291=)
2g.169154593A>CCA429922632LRP2c.12162T>G (p.Pro4054=)
c.3062T>G
c.1190T>G (p.Leu397Arg)
c.12033T>G (p.Pro4011=)
c.9873T>G (p.Pro3291=)
2g.169154593A>GCA429922633LRP2c.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
2g.169154593A>TCA429922634LRP2c.12162T>A (p.Pro4054=)
c.3062T>A
c.1190T>A (p.Leu397His)
c.12033T>A (p.Pro4011=)
c.9873T>A (p.Pro3291=)
2g.169154594G>ACA349137559LRP2c.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
2g.169154594G>CCA349137561LRP2c.12161C>G (p.Pro4054Arg)
c.3061C>G
c.1189C>G (p.Leu397Val)
c.12032C>G (p.Pro4011Arg)
c.9872C>G (p.Pro3291Arg)
2g.169154594G=CA1306305732LRP2c.12161C= (p.Pro4054=)
c.3061C=
c.1189C= (p.Leu397=)
c.12032C= (p.Pro4011=)
c.9872C= (p.Pro3291=)
2g.169154594G>TCA349137562LRP2c.12161C>A (p.Pro4054His)
c.3061C>A
c.1189C>A (p.Leu397Ile)
c.12032C>A (p.Pro4011His)
c.9872C>A (p.Pro3291His)
2g.169154595G>ACA349137564LRP2c.12160C>T (p.Pro4054Ser)
c.3060C>T
c.1188C>T (p.Leu396=)
c.12031C>T (p.Pro4011Ser)
c.9871C>T (p.Pro3291Ser)
gnomAD v4
2g.169154595G>CCA349137566LRP2c.12160C>G (p.Pro4054Ala)
c.3060C>G
c.1188C>G (p.Leu396=)
c.12031C>G (p.Pro4011Ala)
c.9871C>G (p.Pro3291Ala)
2g.169154595G>TCA349137568LRP2c.12160C>A (p.Pro4054Thr)
c.3060C>A
c.1188C>A (p.Leu396=)
c.12031C>A (p.Pro4011Thr)
c.9871C>A (p.Pro3291Thr)
2g.169154596A>CCA429922638LRP2c.12159T>G (p.Ser4053=)
c.3059T>G
c.1187T>G (p.Leu396Arg)
c.12030T>G (p.Ser4010=)
c.9870T>G (p.Ser3290=)
2g.169154596A>GCA429922639LRP2c.12159T>C (p.Ser4053=)
c.3059T>C
c.1187T>C (p.Leu396Pro)
c.12030T>C (p.Ser4010=)
c.9870T>C (p.Ser3290=)
2g.169154596A>TCA429922640LRP2c.12159T>A (p.Ser4053=)
c.3059T>A
c.1187T>A (p.Leu396His)
c.12030T>A (p.Ser4010=)
c.9870T>A (p.Ser3290=)
2g.169154597G>ACA349137569LRP2c.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
2g.169154597G>CCA349137570LRP2c.12158C>G (p.Ser4053Cys)
c.3058C>G
c.1186C>G (p.Leu396Val)
c.12029C>G (p.Ser4010Cys)
c.9869C>G (p.Ser3290Cys)
2g.169154597G=CA1306305734LRP2c.12158C= (p.Ser4053=)
c.3058C=
c.1186C= (p.Leu396=)
c.12029C= (p.Ser4010=)
c.9869C= (p.Ser3290=)
2g.169154597G>TCA349137572LRP2c.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
2g.169154598A>CCA349137574LRP2c.12157T>G (p.Ser4053Ala)
c.3057T>G
c.1185T>G (p.Ala395=)
c.12028T>G (p.Ser4010Ala)
c.9868T>G (p.Ser3290Ala)
2g.169154598A>GCA349137576LRP2c.12157T>C (p.Ser4053Pro)
c.3057T>C
c.1185T>C (p.Ala395=)
c.12028T>C (p.Ser4010Pro)
c.9868T>C (p.Ser3290Pro)
2g.169154598A>TCA349137575LRP2c.12157T>A (p.Ser4053Thr)
c.3057T>A
c.1185T>A (p.Ala395=)
c.12028T>A (p.Ser4010Thr)
c.9868T>A (p.Ser3290Thr)
2g.169154599G>ACA429922642LRP2c.12156C>T (p.Ser4052=)
c.3056C>T
c.1184C>T (p.Ala395Val)
c.12027C>T (p.Ser4009=)
c.9867C>T (p.Ser3289=)
2g.169154599G>CCA349137578LRP2c.12156C>G (p.Ser4052Arg)
c.3056C>G
c.1184C>G (p.Ala395Gly)
c.12027C>G (p.Ser4009Arg)
c.9867C>G (p.Ser3289Arg)
2g.169154599G>TCA349137580LRP2c.12156C>A (p.Ser4052Arg)
c.3056C>A
c.1184C>A (p.Ala395Asp)
c.12027C>A (p.Ser4009Arg)
c.9867C>A (p.Ser3289Arg)
2g.169154600C>ACA349137582LRP2c.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)
2g.169154600C=CA1306305738LRP2c.12155G= (p.Ser4052=)
c.3055G=
c.1184-1G= (n.1184-1G=)
c.12026G= (p.Ser4009=)
c.9866G= (p.Ser3289=)
2g.169154600C>GCA59898173LRP2c.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
2g.169154600C>TCA349137585LRP2c.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
2g.169154601T>ACA349137587LRP2c.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)
2g.169154601T>CCA349137589LRP2c.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)
2g.169154601T>GCA349137590LRP2c.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
2g.169154601T=CA1306305743LRP2c.12154A= (p.Ser4052=)
c.3054A=
c.1184-2A= (n.1184-2A=)
c.12025A= (p.Ser4009=)
c.9865A= (p.Ser3289=)
2g.169154602A>CCA429922650LRP2c.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=)
2g.169154602A>GCA429922652LRP2c.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=)
2g.169154602A>TCA429922653LRP2c.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=)
2g.169154603C>ACA349137592LRP2c.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
2g.169154603C=CA1306305750LRP2c.12152G= (p.Gly4051=)
c.3052G=
c.1184-4G= (n.1184-4G=)
c.12023G= (p.Gly4008=)
c.9863G= (p.Gly3288=)
2g.169154603C>GCA349137594LRP2c.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)
2g.169154603C>TCA349137596LRP2c.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
2g.169154604C>ACA349137597LRP2c.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)
2g.169154604C>GCA349137599LRP2c.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)
2g.169154604C>TCA349137601LRP2c.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)
2g.169154605T>ACA349137607LRP2c.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)
2g.169154605T>CCA349137605LRP2c.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)
2g.169154605T>GCA349137603LRP2c.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)
2g.169154607T>CCA2661815137LRP2c.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
2g.169154607_169154611delinsTAAACCA1306305752LRP2c.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)
2g.169154610delCA2661815138LRP2c.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
2g.169154615_169154618delCA537541140LRP2c.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
2g.169154611C>TCA2577149106LRP2c.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)
2g.169154614delCA2661815139LRP2c.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
2g.169154615C>ACA1952867LRP2c.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
2g.169154615C=CA1306305757LRP2c.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=)
2g.169154615C>TCA1952866LRP2c.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
2g.169154616A>CCA2661815140LRP2c.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
2g.169154616A>GCA2577149107LRP2c.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
2g.169154617A=CA1306305763LRP2c.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=)
2g.169154617A>CCA1039047849LRP2c.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
2g.169154618A=CA1306305765LRP2c.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=)
2g.169154618A>CCA537541145LRP2c.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
2g.169154619G>ACA537541146LRP2c.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
2g.169154619G=CA1306305771LRP2c.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=)
2g.169154621G>TCA2661815141LRP2c.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
2g.169154622C>ACA647677048LRP2c.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
2g.169154622C=CA1306305773LRP2c.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=)
2g.169154622C>GCA2661815142LRP2c.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
2g.169154622C>TCA1039047851LRP2c.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
2g.169154623T>CCA1952868LRP2c.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
2g.169154623T=CA1306305776LRP2c.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=)
2g.169154624A>GCA2661815143LRP2c.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
2g.169154625C>TCA2661815144LRP2c.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
2g.169154626T>CCA537541148LRP2c.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
2g.169154626T=CA1306305779LRP2c.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=)
2g.169154627T>ACA2577149108LRP2c.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)
2g.169154628T>CCA2577149109LRP2c.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)
2g.169154629A=CA1306305781LRP2c.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=)
2g.169154629A>CCA2661815145LRP2c.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
2g.169154629A>TCA1306305783LRP2c.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
2g.169154630T>CCA1952870LRP2c.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
2g.169154630T>GCA1952869LRP2c.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
2g.169154630T=CA1306305784LRP2c.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=)
2g.169154630_169154631insATAGGAAAGTATAATTCA2830543248LRP2c.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)
2g.169154631C>TCA2661815146LRP2c.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
2g.169154631_169154632insAAACAGATAAAGTAGCCCTTCA2830543249LRP2c.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)
2g.169154632T>ACA1952871LRP2c.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
2g.169154632T=CA1306305787LRP2c.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=)
2g.169154633G>TCA2661815147LRP2c.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
2g.169154636T>GCA2661815148LRP2c.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
2g.169154637G>TCA2661815149LRP2c.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
2g.169154640T>CCA2661815150LRP2c.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
2g.169154642A=CA1306305791LRP2c.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=)
2g.169154642A>GCA1039047855LRP2c.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
2g.169154644A=CA1306305795LRP2c.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=)
2g.169154644A>GCA59898214LRP2c.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

Number of alleles fetched