Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68433744G>A | CA475460791 | LRP5 | c.3906G>A (p.Gln1302=) c.*2512G>A (n.*2512G>A) c.2163G>A (p.Gln721=) c.3933G>A (p.Gln1311=) n.3948G>A c.1446G>A (p.Gln482=) | |
11 | g.68433744G>C | CA381613875 | LRP5 | c.3906G>C (p.Gln1302His) c.*2512G>C (n.*2512G>C) c.2163G>C (p.Gln721His) c.3933G>C (p.Gln1311His) n.3948G>C c.1446G>C (p.Gln482His) | |
11 | g.68433744G= | CA1980622319 | LRP5 | c.3906G= (p.Gln1302=) c.*2512G= (n.*2512G=) c.2163G= (p.Gln721=) c.3933G= (p.Gln1311=) n.3948G= c.1446G= (p.Gln482=) | |
11 | g.68433744G>T | CA6150148 | LRP5 | c.3906G>T (p.Gln1302His) c.*2512G>T (n.*2512G>T) c.2163G>T (p.Gln721His) c.3933G>T (p.Gln1311His) n.3948G>T c.1446G>T (p.Gln482His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433745T>A | CA381613876 | LRP5 | c.3907T>A (p.Phe1303Ile) c.*2513T>A (n.*2513T>A) c.2164T>A (p.Phe722Ile) c.3934T>A (p.Phe1312Ile) n.3949T>A c.1447T>A (p.Phe483Ile) | gnomAD v4 |
11 | g.68433745T>C | CA381613877 | LRP5 | c.3907T>C (p.Phe1303Leu) c.*2513T>C (n.*2513T>C) c.2164T>C (p.Phe722Leu) c.3934T>C (p.Phe1312Leu) n.3949T>C c.1447T>C (p.Phe483Leu) | |
11 | g.68433745T>G | CA381613878 | LRP5 | c.3907T>G (p.Phe1303Val) c.*2513T>G (n.*2513T>G) c.2164T>G (p.Phe722Val) c.3934T>G (p.Phe1312Val) n.3949T>G c.1447T>G (p.Phe483Val) | |
11 | g.68433746T>A | CA381613879 | LRP5 | c.3908T>A (p.Phe1303Tyr) c.*2514T>A (n.*2514T>A) c.2165T>A (p.Phe722Tyr) c.3935T>A (p.Phe1312Tyr) n.3950T>A c.1448T>A (p.Phe483Tyr) | |
11 | g.68433746T>C | CA381613881 | LRP5 | c.3908T>C (p.Phe1303Ser) c.*2514T>C (n.*2514T>C) c.2165T>C (p.Phe722Ser) c.3935T>C (p.Phe1312Ser) n.3950T>C c.1448T>C (p.Phe483Ser) | |
11 | g.68433746T>G | CA381613880 | LRP5 | c.3908T>G (p.Phe1303Cys) c.*2514T>G (n.*2514T>G) c.2165T>G (p.Phe722Cys) c.3935T>G (p.Phe1312Cys) n.3950T>G c.1448T>G (p.Phe483Cys) | |
11 | g.68433747C>A | CA381613882 | LRP5 | c.3909C>A (p.Phe1303Leu) c.*2515C>A (n.*2515C>A) c.2166C>A (p.Phe722Leu) c.3936C>A (p.Phe1312Leu) n.3951C>A c.1449C>A (p.Phe483Leu) | |
11 | g.68433747C>G | CA381613883 | LRP5 | c.3909C>G (p.Phe1303Leu) c.*2515C>G (n.*2515C>G) c.2166C>G (p.Phe722Leu) c.3936C>G (p.Phe1312Leu) n.3951C>G c.1449C>G (p.Phe483Leu) | |
11 | g.68433747C>T | CA475460792 | LRP5 | c.3909C>T (p.Phe1303=) c.*2515C>T (n.*2515C>T) c.2166C>T (p.Phe722=) c.3936C>T (p.Phe1312=) n.3951C>T c.1449C>T (p.Phe483=) | COSMIC |
11 | g.68433748C>A | CA381613884 | LRP5 | c.3910C>A (p.Pro1304Thr) c.*2516C>A (n.*2516C>A) c.2167C>A (p.Pro723Thr) c.3937C>A (p.Pro1313Thr) n.3952C>A c.1450C>A (p.Pro484Thr) | |
11 | g.68433748C= | CA1980622342 | LRP5 | c.3910C= (p.Pro1304=) c.*2516C= (n.*2516C=) c.2167C= (p.Pro723=) c.3937C= (p.Pro1313=) n.3952C= c.1450C= (p.Pro484=) | |
11 | g.68433748C>G | CA381613885 | LRP5 | c.3910C>G (p.Pro1304Ala) c.*2516C>G (n.*2516C>G) c.2167C>G (p.Pro723Ala) c.3937C>G (p.Pro1313Ala) n.3952C>G c.1450C>G (p.Pro484Ala) | |
11 | g.68433748C>T | CA6150149 | LRP5 | c.3910C>T (p.Pro1304Ser) c.*2516C>T (n.*2516C>T) c.2167C>T (p.Pro723Ser) c.3937C>T (p.Pro1313Ser) n.3952C>T c.1450C>T (p.Pro484Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433749C>A | CA381613886 | LRP5 | c.3911C>A (p.Pro1304His) c.*2517C>A (n.*2517C>A) c.2168C>A (p.Pro723His) c.3938C>A (p.Pro1313His) n.3953C>A c.1451C>A (p.Pro484His) | |
11 | g.68433749C= | CA1980622346 | LRP5 | c.3911C= (p.Pro1304=) c.*2517C= (n.*2517C=) c.2168C= (p.Pro723=) c.3938C= (p.Pro1313=) n.3953C= c.1451C= (p.Pro484=) | |
11 | g.68433749C>G | CA381613887 | LRP5 | c.3911C>G (p.Pro1304Arg) c.*2517C>G (n.*2517C>G) c.2168C>G (p.Pro723Arg) c.3938C>G (p.Pro1313Arg) n.3953C>G c.1451C>G (p.Pro484Arg) | |
11 | g.68433749C>T | CA6150150 | LRP5 | c.3911C>T (p.Pro1304Leu) c.*2517C>T (n.*2517C>T) c.2168C>T (p.Pro723Leu) c.3938C>T (p.Pro1313Leu) n.3953C>T c.1451C>T (p.Pro484Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433750C>A | CA475460793 | LRP5 | c.3912C>A (p.Pro1304=) c.*2518C>A (n.*2518C>A) c.2169C>A (p.Pro723=) c.3939C>A (p.Pro1313=) n.3954C>A c.1452C>A (p.Pro484=) | |
11 | g.68433750C>G | CA475460795 | LRP5 | c.3912C>G (p.Pro1304=) c.*2518C>G (n.*2518C>G) c.2169C>G (p.Pro723=) c.3939C>G (p.Pro1313=) n.3954C>G c.1452C>G (p.Pro484=) | |
11 | g.68433750C>T | CA475460794 | LRP5 | c.3912C>T (p.Pro1304=) c.*2518C>T (n.*2518C>T) c.2169C>T (p.Pro723=) c.3939C>T (p.Pro1313=) n.3954C>T c.1452C>T (p.Pro484=) | |
11 | g.68433751T>A | CA381613888 | LRP5 | c.3913T>A (p.Cys1305Ser) c.*2519T>A (n.*2519T>A) c.2170T>A (p.Cys724Ser) c.3940T>A (p.Cys1314Ser) n.3955T>A c.1453T>A (p.Cys485Ser) | |
11 | g.68433751T>C | CA381613889 | LRP5 | c.3913T>C (p.Cys1305Arg) c.*2519T>C (n.*2519T>C) c.2170T>C (p.Cys724Arg) c.3940T>C (p.Cys1314Arg) n.3955T>C c.1453T>C (p.Cys485Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433751T>G | CA381613890 | LRP5 | c.3913T>G (p.Cys1305Gly) c.*2519T>G (n.*2519T>G) c.2170T>G (p.Cys724Gly) c.3940T>G (p.Cys1314Gly) n.3955T>G c.1453T>G (p.Cys485Gly) | |
11 | g.68433751T= | CA1980622350 | LRP5 | c.3913T= (p.Cys1305=) c.*2519T= (n.*2519T=) c.2170T= (p.Cys724=) c.3940T= (p.Cys1314=) n.3955T= c.1453T= (p.Cys485=) | |
11 | g.68433752G>A | CA381613892 | LRP5 | c.3914G>A (p.Cys1305Tyr) c.*2520G>A (n.*2520G>A) c.2171G>A (p.Cys724Tyr) c.3941G>A (p.Cys1314Tyr) n.3956G>A c.1454G>A (p.Cys485Tyr) | ClinVar dbSNP COSMIC |
11 | g.68433752G>C | CA381613893 | LRP5 | c.3914G>C (p.Cys1305Ser) c.*2520G>C (n.*2520G>C) c.2171G>C (p.Cys724Ser) c.3941G>C (p.Cys1314Ser) n.3956G>C c.1454G>C (p.Cys485Ser) | |
11 | g.68433752G>T | CA381613891 | LRP5 | c.3914G>T (p.Cys1305Phe) c.*2520G>T (n.*2520G>T) c.2171G>T (p.Cys724Phe) c.3941G>T (p.Cys1314Phe) n.3956G>T c.1454G>T (p.Cys485Phe) | |
11 | g.68433757_68433758dup | CA2614715652 | LRP5 | c.3919_3920dup (p.Gln1309ValfsTer?) c.*2525_*2526dup (n.*2525_*2526dup) c.2176_2177dup (p.Gln728ValfsTer?) c.3946_3947dup (p.Gln1318ValfsTer?) n.3961_3962dup c.1459_1460dup (p.Gln489ValfsTer?) | gnomAD v4 |
11 | g.68433753C>A | CA381613895 | LRP5 | c.3915C>A (p.Cys1305Ter) c.*2521C>A (n.*2521C>A) c.2172C>A (p.Cys724Ter) c.3942C>A (p.Cys1314Ter) n.3957C>A c.1455C>A (p.Cys485Ter) | |
11 | g.68433753C= | CA1980622364 | LRP5 | c.3915C= (p.Cys1305=) c.*2521C= (n.*2521C=) c.2172C= (p.Cys724=) c.3942C= (p.Cys1314=) n.3957C= c.1455C= (p.Cys485=) | |
11 | g.68433753C>G | CA381613894 | LRP5 | c.3915C>G (p.Cys1305Trp) c.*2521C>G (n.*2521C>G) c.2172C>G (p.Cys724Trp) c.3942C>G (p.Cys1314Trp) n.3957C>G c.1455C>G (p.Cys485Trp) | |
11 | g.68433753C>T | CA6150151 | LRP5 | c.3915C>T (p.Cys1305=) c.*2521C>T (n.*2521C>T) c.2172C>T (p.Cys724=) c.3942C>T (p.Cys1314=) n.3957C>T c.1455C>T (p.Cys485=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433754G>A | CA6150152 | LRP5 | c.3916G>A (p.Ala1306Thr) c.*2522G>A (n.*2522G>A) c.2173G>A (p.Ala725Thr) c.3943G>A (p.Ala1315Thr) n.3958G>A c.1456G>A (p.Ala486Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433754G>C | CA381613896 | LRP5 | c.3916G>C (p.Ala1306Pro) c.*2522G>C (n.*2522G>C) c.2173G>C (p.Ala725Pro) c.3943G>C (p.Ala1315Pro) n.3958G>C c.1456G>C (p.Ala486Pro) | |
11 | g.68433754G= | CA1980622372 | LRP5 | c.3916G= (p.Ala1306=) c.*2522G= (n.*2522G=) c.2173G= (p.Ala725=) c.3943G= (p.Ala1315=) n.3958G= c.1456G= (p.Ala486=) | |
11 | g.68433754G>T | CA381613897 | LRP5 | c.3916G>T (p.Ala1306Ser) c.*2522G>T (n.*2522G>T) c.2173G>T (p.Ala725Ser) c.3943G>T (p.Ala1315Ser) n.3958G>T c.1456G>T (p.Ala486Ser) | ClinVar dbSNP gnomAD v2 |
11 | g.68433755C>A | CA6150154 | LRP5 | c.3917C>A (p.Ala1306Glu) c.*2523C>A (n.*2523C>A) c.2174C>A (p.Ala725Glu) c.3944C>A (p.Ala1315Glu) n.3959C>A c.1457C>A (p.Ala486Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433755C= | CA1980622376 | LRP5 | c.3917C= (p.Ala1306=) c.*2523C= (n.*2523C=) c.2174C= (p.Ala725=) c.3944C= (p.Ala1315=) n.3959C= c.1457C= (p.Ala486=) | |
11 | g.68433755C>G | CA381613898 | LRP5 | c.3917C>G (p.Ala1306Gly) c.*2523C>G (n.*2523C>G) c.2174C>G (p.Ala725Gly) c.3944C>G (p.Ala1315Gly) n.3959C>G c.1457C>G (p.Ala486Gly) | |
11 | g.68433755C>T | CA6150153 | LRP5 | c.3917C>T (p.Ala1306Val) c.*2523C>T (n.*2523C>T) c.2174C>T (p.Ala725Val) c.3944C>T (p.Ala1315Val) n.3959C>T c.1457C>T (p.Ala486Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433756G>A | CA6150155 | LRP5 | c.3918G>A (p.Ala1306=) c.*2524G>A (n.*2524G>A) c.2175G>A (p.Ala725=) c.3945G>A (p.Ala1315=) n.3960G>A c.1458G>A (p.Ala486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433756G>C | CA475460796 | LRP5 | c.3918G>C (p.Ala1306=) c.*2524G>C (n.*2524G>C) c.2175G>C (p.Ala725=) c.3945G>C (p.Ala1315=) n.3960G>C c.1458G>C (p.Ala486=) | ClinVar |
11 | g.68433756G= | CA1980622380 | LRP5 | c.3918G= (p.Ala1306=) c.*2524G= (n.*2524G=) c.2175G= (p.Ala725=) c.3945G= (p.Ala1315=) n.3960G= c.1458G= (p.Ala486=) | |
11 | g.68433756G>T | CA6150156 | LRP5 | c.3918G>T (p.Ala1306=) c.*2524G>T (n.*2524G>T) c.2175G>T (p.Ala725=) c.3945G>T (p.Ala1315=) n.3960G>T c.1458G>T (p.Ala486=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433757C>A | CA475460797 | LRP5 | c.3919C>A (p.Arg1307=) c.*2525C>A (n.*2525C>A) c.2176C>A (p.Arg726=) c.3946C>A (p.Arg1316=) n.3961C>A c.1459C>A (p.Arg487=) | gnomAD v4 |
11 | g.68433757C= | CA1980622391 | LRP5 | c.3919C= (p.Arg1307=) c.*2525C= (n.*2525C=) c.2176C= (p.Arg726=) c.3946C= (p.Arg1316=) n.3961C= c.1459C= (p.Arg487=) | |
11 | g.68433757C>G | CA381613899 | LRP5 | c.3919C>G (p.Arg1307Gly) c.*2525C>G (n.*2525C>G) c.2176C>G (p.Arg726Gly) c.3946C>G (p.Arg1316Gly) n.3961C>G c.1459C>G (p.Arg487Gly) | |
11 | g.68433757C>T | CA6150157 | LRP5 | c.3919C>T (p.Arg1307Trp) c.*2525C>T (n.*2525C>T) c.2176C>T (p.Arg726Trp) c.3946C>T (p.Arg1316Trp) n.3961C>T c.1459C>T (p.Arg487Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433758G>A | CA6150158 | LRP5 | c.3920G>A (p.Arg1307Gln) c.*2526G>A (n.*2526G>A) c.2177G>A (p.Arg726Gln) c.3947G>A (p.Arg1316Gln) n.3962G>A c.1460G>A (p.Arg487Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433758G>C | CA381613900 | LRP5 | c.3920G>C (p.Arg1307Pro) c.*2526G>C (n.*2526G>C) c.2177G>C (p.Arg726Pro) c.3947G>C (p.Arg1316Pro) n.3962G>C c.1460G>C (p.Arg487Pro) | COSMIC |
11 | g.68433758G= | CA1980622398 | LRP5 | c.3920G= (p.Arg1307=) c.*2526G= (n.*2526G=) c.2177G= (p.Arg726=) c.3947G= (p.Arg1316=) n.3962G= c.1460G= (p.Arg487=) | |
11 | g.68433758G>T | CA381613901 | LRP5 | c.3920G>T (p.Arg1307Leu) c.*2526G>T (n.*2526G>T) c.2177G>T (p.Arg726Leu) c.3947G>T (p.Arg1316Leu) n.3962G>T c.1460G>T (p.Arg487Leu) | gnomAD v4 |
11 | g.68433759G>A | CA475460800 | LRP5 | c.3921G>A (p.Arg1307=) c.*2527G>A (n.*2527G>A) c.2178G>A (p.Arg726=) c.3948G>A (p.Arg1316=) n.3963G>A c.1461G>A (p.Arg487=) | |
11 | g.68433759G>C | CA475460798 | LRP5 | c.3921G>C (p.Arg1307=) c.*2527G>C (n.*2527G>C) c.2178G>C (p.Arg726=) c.3948G>C (p.Arg1316=) n.3963G>C c.1461G>C (p.Arg487=) | |
11 | g.68433759G>T | CA475460799 | LRP5 | c.3921G>T (p.Arg1307=) c.*2527G>T (n.*2527G>T) c.2178G>T (p.Arg726=) c.3948G>T (p.Arg1316=) n.3963G>T c.1461G>T (p.Arg487=) | |
11 | g.68433760G>A | CA6150159 | LRP5 | c.3922G>A (p.Gly1308Ser) c.*2528G>A (n.*2528G>A) c.2179G>A (p.Gly727Ser) c.3949G>A (p.Gly1317Ser) n.3964G>A c.1462G>A (p.Gly488Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433760G>C | CA381613902 | LRP5 | c.3922G>C (p.Gly1308Arg) c.*2528G>C (n.*2528G>C) c.2179G>C (p.Gly727Arg) c.3949G>C (p.Gly1317Arg) n.3964G>C c.1462G>C (p.Gly488Arg) | |
11 | g.68433760G= | CA1980622405 | LRP5 | c.3922G= (p.Gly1308=) c.*2528G= (n.*2528G=) c.2179G= (p.Gly727=) c.3949G= (p.Gly1317=) n.3964G= c.1462G= (p.Gly488=) | |
11 | g.68433760G>T | CA381613903 | LRP5 | c.3922G>T (p.Gly1308Cys) c.*2528G>T (n.*2528G>T) c.2179G>T (p.Gly727Cys) c.3949G>T (p.Gly1317Cys) n.3964G>T c.1462G>T (p.Gly488Cys) | |
11 | g.68433761G>A | CA381613904 | LRP5 | c.3923G>A (p.Gly1308Asp) c.*2529G>A (n.*2529G>A) c.2180G>A (p.Gly727Asp) c.3950G>A (p.Gly1317Asp) n.3965G>A c.1463G>A (p.Gly488Asp) | |
11 | g.68433761G>C | CA381613905 | LRP5 | c.3923G>C (p.Gly1308Ala) c.*2529G>C (n.*2529G>C) c.2180G>C (p.Gly727Ala) c.3950G>C (p.Gly1317Ala) n.3965G>C c.1463G>C (p.Gly488Ala) | |
11 | g.68433761G>T | CA381613906 | LRP5 | c.3923G>T (p.Gly1308Val) c.*2529G>T (n.*2529G>T) c.2180G>T (p.Gly727Val) c.3950G>T (p.Gly1317Val) n.3965G>T c.1463G>T (p.Gly488Val) | |
11 | g.68433762T>A | CA475460801 | LRP5 | c.3924T>A (p.Gly1308=) c.*2530T>A (n.*2530T>A) c.2181T>A (p.Gly727=) c.3951T>A (p.Gly1317=) n.3966T>A c.1464T>A (p.Gly488=) | |
11 | g.68433762T>C | CA475460802 | LRP5 | c.3924T>C (p.Gly1308=) c.*2530T>C (n.*2530T>C) c.2181T>C (p.Gly727=) c.3951T>C (p.Gly1317=) n.3966T>C c.1464T>C (p.Gly488=) | dbSNP |
11 | g.68433762T>G | CA475460803 | LRP5 | c.3924T>G (p.Gly1308=) c.*2530T>G (n.*2530T>G) c.2181T>G (p.Gly727=) c.3951T>G (p.Gly1317=) n.3966T>G c.1464T>G (p.Gly488=) | |
11 | g.68433763C>A | CA381613907 | LRP5 | c.3925C>A (p.Gln1309Lys) c.*2531C>A (n.*2531C>A) c.2182C>A (p.Gln728Lys) c.3952C>A (p.Gln1318Lys) n.3967C>A c.1465C>A (p.Gln489Lys) | |
11 | g.68433763C= | CA1980622409 | LRP5 | c.3925C= (p.Gln1309=) c.*2531C= (n.*2531C=) c.2182C= (p.Gln728=) c.3952C= (p.Gln1318=) n.3967C= c.1465C= (p.Gln489=) | |
11 | g.68433763C>G | CA381613908 | LRP5 | c.3925C>G (p.Gln1309Glu) c.*2531C>G (n.*2531C>G) c.2182C>G (p.Gln728Glu) c.3952C>G (p.Gln1318Glu) n.3967C>G c.1465C>G (p.Gln489Glu) | |
11 | g.68433763C>T | CA6150160 | LRP5 | c.3925C>T (p.Gln1309Ter) c.*2531C>T (n.*2531C>T) c.2182C>T (p.Gln728Ter) c.3952C>T (p.Gln1318Ter) n.3967C>T c.1465C>T (p.Gln489Ter) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433764A= | CA1980622413 | LRP5 | c.3926A= (p.Gln1309=) c.*2532A= (n.*2532A=) c.2183A= (p.Gln728=) c.3953A= (p.Gln1318=) n.3968A= c.1466A= (p.Gln489=) | |
11 | g.68433764A>C | CA381613911 | LRP5 | c.3926A>C (p.Gln1309Pro) c.*2532A>C (n.*2532A>C) c.2183A>C (p.Gln728Pro) c.3953A>C (p.Gln1318Pro) n.3968A>C c.1466A>C (p.Gln489Pro) | |
11 | g.68433764A>G | CA381613909 | LRP5 | c.3926A>G (p.Gln1309Arg) c.*2532A>G (n.*2532A>G) c.2183A>G (p.Gln728Arg) c.3953A>G (p.Gln1318Arg) n.3968A>G c.1466A>G (p.Gln489Arg) | dbSNP |
11 | g.68433764A>T | CA381613910 | LRP5 | c.3926A>T (p.Gln1309Leu) c.*2532A>T (n.*2532A>T) c.2183A>T (p.Gln728Leu) c.3953A>T (p.Gln1318Leu) n.3968A>T c.1466A>T (p.Gln489Leu) | gnomAD v4 |
11 | g.68433765G>A | CA475460806 | LRP5 | c.3927G>A (p.Gln1309=) c.*2533G>A (n.*2533G>A) c.2184G>A (p.Gln728=) c.3954G>A (p.Gln1318=) n.3969G>A c.1467G>A (p.Gln489=) | ClinVar dbSNP |
11 | g.68433765G>C | CA381613912 | LRP5 | c.3927G>C (p.Gln1309His) c.*2533G>C (n.*2533G>C) c.2184G>C (p.Gln728His) c.3954G>C (p.Gln1318His) n.3969G>C c.1467G>C (p.Gln489His) | |
11 | g.68433765G= | CA1980622417 | LRP5 | c.3927G= (p.Gln1309=) c.*2533G= (n.*2533G=) c.2184G= (p.Gln728=) c.3954G= (p.Gln1318=) n.3969G= c.1467G= (p.Gln489=) | |
11 | g.68433765G>T | CA381613913 | LRP5 | c.3927G>T (p.Gln1309His) c.*2533G>T (n.*2533G>T) c.2184G>T (p.Gln728His) c.3954G>T (p.Gln1318His) n.3969G>T c.1467G>T (p.Gln489His) | |
11 | g.68433766T>A | CA381613914 | LRP5 | c.3928T>A (p.Cys1310Ser) c.*2534T>A (n.*2534T>A) c.2185T>A (p.Cys729Ser) c.3955T>A (p.Cys1319Ser) n.3970T>A c.1468T>A (p.Cys490Ser) | |
11 | g.68433766T>C | CA381613915 | LRP5 | c.3928T>C (p.Cys1310Arg) c.*2534T>C (n.*2534T>C) c.2185T>C (p.Cys729Arg) c.3955T>C (p.Cys1319Arg) n.3970T>C c.1468T>C (p.Cys490Arg) | dbSNP |
11 | g.68433766T>G | CA381613916 | LRP5 | c.3928T>G (p.Cys1310Gly) c.*2534T>G (n.*2534T>G) c.2185T>G (p.Cys729Gly) c.3955T>G (p.Cys1319Gly) n.3970T>G c.1468T>G (p.Cys490Gly) | |
11 | g.68433766T= | CA1980622419 | LRP5 | c.3928T= (p.Cys1310=) c.*2534T= (n.*2534T=) c.2185T= (p.Cys729=) c.3955T= (p.Cys1319=) n.3970T= c.1468T= (p.Cys490=) | |
11 | g.68433768_68433783dup | CA2614715653 | LRP5 | c.3930_3945dup (p.Arg1316CysfsTer23) c.*2536_*2551dup (n.*2536_*2551dup) c.2187_2202dup (p.Arg735CysfsTer23) c.3957_3972dup (p.Arg1325CysfsTer23) n.3972_3987dup c.1470_1485dup (p.Arg496CysfsTer23) | gnomAD v4 |
11 | g.68433767G>A | CA381613917 | LRP5 | c.3929G>A (p.Cys1310Tyr) c.*2535G>A (n.*2535G>A) c.2186G>A (p.Cys729Tyr) c.3956G>A (p.Cys1319Tyr) n.3971G>A c.1469G>A (p.Cys490Tyr) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433767G>C | CA381613919 | LRP5 | c.3929G>C (p.Cys1310Ser) c.*2535G>C (n.*2535G>C) c.2186G>C (p.Cys729Ser) c.3956G>C (p.Cys1319Ser) n.3971G>C c.1469G>C (p.Cys490Ser) | |
11 | g.68433767G= | CA1980622425 | LRP5 | c.3929G= (p.Cys1310=) c.*2535G= (n.*2535G=) c.2186G= (p.Cys729=) c.3956G= (p.Cys1319=) n.3971G= c.1469G= (p.Cys490=) | |
11 | g.68433767G>T | CA381613918 | LRP5 | c.3929G>T (p.Cys1310Phe) c.*2535G>T (n.*2535G>T) c.2186G>T (p.Cys729Phe) c.3956G>T (p.Cys1319Phe) n.3971G>T c.1469G>T (p.Cys490Phe) | |
11 | g.68433768T>A | CA381613920 | LRP5 | c.3930T>A (p.Cys1310Ter) c.*2536T>A (n.*2536T>A) c.2187T>A (p.Cys729Ter) c.3957T>A (p.Cys1319Ter) n.3972T>A c.1470T>A (p.Cys490Ter) | |
11 | g.68433768T>C | CA475460808 | LRP5 | c.3930T>C (p.Cys1310=) c.*2536T>C (n.*2536T>C) c.2187T>C (p.Cys729=) c.3957T>C (p.Cys1319=) n.3972T>C c.1470T>C (p.Cys490=) | ClinVar dbSNP gnomAD v4 |
11 | g.68433768T>G | CA381613921 | LRP5 | c.3930T>G (p.Cys1310Trp) c.*2536T>G (n.*2536T>G) c.2187T>G (p.Cys729Trp) c.3957T>G (p.Cys1319Trp) n.3972T>G c.1470T>G (p.Cys490Trp) | |
11 | g.68433768T= | CA1980622428 | LRP5 | c.3930T= (p.Cys1310=) c.*2536T= (n.*2536T=) c.2187T= (p.Cys729=) c.3957T= (p.Cys1319=) n.3972T= c.1470T= (p.Cys490=) | |
11 | g.68433769G>A | CA381613922 | LRP5 | c.3931G>A (p.Val1311Met) c.*2537G>A (n.*2537G>A) c.2188G>A (p.Val730Met) c.3958G>A (p.Val1320Met) n.3973G>A c.1471G>A (p.Val491Met) | gnomAD v4 |
11 | g.68433769G>C | CA381613923 | LRP5 | c.3931G>C (p.Val1311Leu) c.*2537G>C (n.*2537G>C) c.2188G>C (p.Val730Leu) c.3958G>C (p.Val1320Leu) n.3973G>C c.1471G>C (p.Val491Leu) | |
11 | g.68433769G>T | CA381613924 | LRP5 | c.3931G>T (p.Val1311Leu) c.*2537G>T (n.*2537G>T) c.2188G>T (p.Val730Leu) c.3958G>T (p.Val1320Leu) n.3973G>T c.1471G>T (p.Val491Leu) | |
11 | g.68433770T>A | CA381613925 | LRP5 | c.3932T>A (p.Val1311Glu) c.*2538T>A (n.*2538T>A) c.2189T>A (p.Val730Glu) c.3959T>A (p.Val1320Glu) n.3974T>A c.1472T>A (p.Val491Glu) | |
11 | g.68433770T>C | CA381613926 | LRP5 | c.3932T>C (p.Val1311Ala) c.*2538T>C (n.*2538T>C) c.2189T>C (p.Val730Ala) c.3959T>C (p.Val1320Ala) n.3974T>C c.1472T>C (p.Val491Ala) | |
11 | g.68433770T>G | CA381613927 | LRP5 | c.3932T>G (p.Val1311Gly) c.*2538T>G (n.*2538T>G) c.2189T>G (p.Val730Gly) c.3959T>G (p.Val1320Gly) n.3974T>G c.1472T>G (p.Val491Gly) | |
11 | g.68433771G>A | CA475460811 | LRP5 | c.3933G>A (p.Val1311=) c.*2539G>A (n.*2539G>A) c.2190G>A (p.Val730=) c.3960G>A (p.Val1320=) n.3975G>A c.1473G>A (p.Val491=) | gnomAD v4 |
11 | g.68433771G>C | CA475460812 | LRP5 | c.3933G>C (p.Val1311=) c.*2539G>C (n.*2539G>C) c.2190G>C (p.Val730=) c.3960G>C (p.Val1320=) n.3975G>C c.1473G>C (p.Val491=) | |
11 | g.68433771G>T | CA475460813 | LRP5 | c.3933G>T (p.Val1311=) c.*2539G>T (n.*2539G>T) c.2190G>T (p.Val730=) c.3960G>T (p.Val1320=) n.3975G>T c.1473G>T (p.Val491=) | |
11 | g.68433772G>A | CA381613928 | LRP5 | c.3934G>A (p.Asp1312Asn) c.*2540G>A (n.*2540G>A) c.2191G>A (p.Asp731Asn) c.3961G>A (p.Asp1321Asn) n.3976G>A c.1474G>A (p.Asp492Asn) | gnomAD v4 |
11 | g.68433772G>C | CA381613929 | LRP5 | c.3934G>C (p.Asp1312His) c.*2540G>C (n.*2540G>C) c.2191G>C (p.Asp731His) c.3961G>C (p.Asp1321His) n.3976G>C c.1474G>C (p.Asp492His) | |
11 | g.68433772G>T | CA381613930 | LRP5 | c.3934G>T (p.Asp1312Tyr) c.*2540G>T (n.*2540G>T) c.2191G>T (p.Asp731Tyr) c.3961G>T (p.Asp1321Tyr) n.3976G>T c.1474G>T (p.Asp492Tyr) | |
11 | g.68433773A= | CA1980622429 | LRP5 | c.3935A= (p.Asp1312=) c.*2541A= (n.*2541A=) c.2192A= (p.Asp731=) c.3962A= (p.Asp1321=) n.3977A= c.1475A= (p.Asp492=) | |
11 | g.68433773A>C | CA381613931 | LRP5 | c.3935A>C (p.Asp1312Ala) c.*2541A>C (n.*2541A>C) c.2192A>C (p.Asp731Ala) c.3962A>C (p.Asp1321Ala) n.3977A>C c.1475A>C (p.Asp492Ala) | |
11 | g.68433773A>G | CA381613932 | LRP5 | c.3935A>G (p.Asp1312Gly) c.*2541A>G (n.*2541A>G) c.2192A>G (p.Asp731Gly) c.3962A>G (p.Asp1321Gly) n.3977A>G c.1475A>G (p.Asp492Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433773A>T | CA381613933 | LRP5 | c.3935A>T (p.Asp1312Val) c.*2541A>T (n.*2541A>T) c.2192A>T (p.Asp731Val) c.3962A>T (p.Asp1321Val) n.3977A>T c.1475A>T (p.Asp492Val) | |
11 | g.68433774C>A | CA381613934 | LRP5 | c.3936C>A (p.Asp1312Glu) c.*2542C>A (n.*2542C>A) c.2193C>A (p.Asp731Glu) c.3963C>A (p.Asp1321Glu) n.3978C>A c.1476C>A (p.Asp492Glu) | gnomAD v4 |
11 | g.68433774C>G | CA381613935 | LRP5 | c.3936C>G (p.Asp1312Glu) c.*2542C>G (n.*2542C>G) c.2193C>G (p.Asp731Glu) c.3963C>G (p.Asp1321Glu) n.3978C>G c.1476C>G (p.Asp492Glu) | |
11 | g.68433774C>T | CA475460814 | LRP5 | c.3936C>T (p.Asp1312=) c.*2542C>T (n.*2542C>T) c.2193C>T (p.Asp731=) c.3963C>T (p.Asp1321=) n.3978C>T c.1476C>T (p.Asp492=) | |
11 | g.68433775dup | CA2838602182 | LRP5 | c.3937dup (p.Leu1313ProfsTer21) c.*2543dup (n.*2543dup) c.2194dup (p.Leu732ProfsTer21) c.3964dup (p.Leu1322ProfsTer21) n.3979dup c.1477dup (p.Leu493ProfsTer21) | |
11 | g.68433781_68433786dup | CA2574901240 | LRP5 | c.3943_3948dup (p.Arg1316_Cys1317insLeuArg) c.*2549_*2554dup (n.*2549_*2554dup) c.2200_2205dup (p.Arg735_Cys736insLeuArg) c.3970_3975dup (p.Arg1325_Cys1326insLeuArg) n.3985_3990dup c.1483_1488dup (p.Arg496_Cys497insLeuArg) | |
11 | g.68433775C>A | CA381613936 | LRP5 | c.3937C>A (p.Leu1313Met) c.*2543C>A (n.*2543C>A) c.2194C>A (p.Leu732Met) c.3964C>A (p.Leu1322Met) n.3979C>A c.1477C>A (p.Leu493Met) | |
11 | g.68433775C= | CA1980622430 | LRP5 | c.3937C= (p.Leu1313=) c.*2543C= (n.*2543C=) c.2194C= (p.Leu732=) c.3964C= (p.Leu1322=) n.3979C= c.1477C= (p.Leu493=) | |
11 | g.68433775C>G | CA381613937 | LRP5 | c.3937C>G (p.Leu1313Val) c.*2543C>G (n.*2543C>G) c.2194C>G (p.Leu732Val) c.3964C>G (p.Leu1322Val) n.3979C>G c.1477C>G (p.Leu493Val) | |
11 | g.68433775C>T | CA6150161 | LRP5 | c.3937C>T (p.Leu1313=) c.*2543C>T (n.*2543C>T) c.2194C>T (p.Leu732=) c.3964C>T (p.Leu1322=) n.3979C>T c.1477C>T (p.Leu493=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433776T>A | CA381613938 | LRP5 | c.3938T>A (p.Leu1313Gln) c.*2544T>A (n.*2544T>A) c.2195T>A (p.Leu732Gln) c.3965T>A (p.Leu1322Gln) n.3980T>A c.1478T>A (p.Leu493Gln) | |
11 | g.68433776T>C | CA381613939 | LRP5 | c.3938T>C (p.Leu1313Pro) c.*2544T>C (n.*2544T>C) c.2195T>C (p.Leu732Pro) c.3965T>C (p.Leu1322Pro) n.3980T>C c.1478T>C (p.Leu493Pro) | |
11 | g.68433776T>G | CA381613940 | LRP5 | c.3938T>G (p.Leu1313Arg) c.*2544T>G (n.*2544T>G) c.2195T>G (p.Leu732Arg) c.3965T>G (p.Leu1322Arg) n.3980T>G c.1478T>G (p.Leu493Arg) | |
11 | g.68433777G>A | CA475460816 | LRP5 | c.3939G>A (p.Leu1313=) c.*2545G>A (n.*2545G>A) c.2196G>A (p.Leu732=) c.3966G>A (p.Leu1322=) n.3981G>A c.1479G>A (p.Leu493=) | |
11 | g.68433777G>C | CA475460817 | LRP5 | c.3939G>C (p.Leu1313=) c.*2545G>C (n.*2545G>C) c.2196G>C (p.Leu732=) c.3966G>C (p.Leu1322=) n.3981G>C c.1479G>C (p.Leu493=) | |
11 | g.68433777G>T | CA475460818 | LRP5 | c.3939G>T (p.Leu1313=) c.*2545G>T (n.*2545G>T) c.2196G>T (p.Leu732=) c.3966G>T (p.Leu1322=) n.3981G>T c.1479G>T (p.Leu493=) | |
11 | g.68433778C>A | CA381613941 | LRP5 | c.3940C>A (p.Arg1314Ser) c.*2546C>A (n.*2546C>A) c.2197C>A (p.Arg733Ser) c.3967C>A (p.Arg1323Ser) n.3982C>A c.1480C>A (p.Arg494Ser) | |
11 | g.68433778C= | CA1980622434 | LRP5 | c.3940C= (p.Arg1314=) c.*2546C= (n.*2546C=) c.2197C= (p.Arg733=) c.3967C= (p.Arg1323=) n.3982C= c.1480C= (p.Arg494=) | |
11 | g.68433778C>G | CA381613942 | LRP5 | c.3940C>G (p.Arg1314Gly) c.*2546C>G (n.*2546C>G) c.2197C>G (p.Arg733Gly) c.3967C>G (p.Arg1323Gly) n.3982C>G c.1480C>G (p.Arg494Gly) | |
11 | g.68433778C>T | CA6150162 | LRP5 | c.3940C>T (p.Arg1314Cys) c.*2546C>T (n.*2546C>T) c.2197C>T (p.Arg733Cys) c.3967C>T (p.Arg1323Cys) n.3982C>T c.1480C>T (p.Arg494Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68433779G>A | CA6150163 | LRP5 | c.3941G>A (p.Arg1314His) c.*2547G>A (n.*2547G>A) c.2198G>A (p.Arg733His) c.3968G>A (p.Arg1323His) n.3983G>A c.1481G>A (p.Arg494His) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433779G>C | CA381613943 | LRP5 | c.3941G>C (p.Arg1314Pro) c.*2547G>C (n.*2547G>C) c.2198G>C (p.Arg733Pro) c.3968G>C (p.Arg1323Pro) n.3983G>C c.1481G>C (p.Arg494Pro) | dbSNP gnomAD v4 |
11 | g.68433779G= | CA1980622439 | LRP5 | c.3941G= (p.Arg1314=) c.*2547G= (n.*2547G=) c.2198G= (p.Arg733=) c.3968G= (p.Arg1323=) n.3983G= c.1481G= (p.Arg494=) | |
11 | g.68433779G>T | CA381613944 | LRP5 | c.3941G>T (p.Arg1314Leu) c.*2547G>T (n.*2547G>T) c.2198G>T (p.Arg733Leu) c.3968G>T (p.Arg1323Leu) n.3983G>T c.1481G>T (p.Arg494Leu) | |
11 | g.68433780C>A | CA475460823 | LRP5 | c.3942C>A (p.Arg1314=) c.*2548C>A (n.*2548C>A) c.2199C>A (p.Arg733=) c.3969C>A (p.Arg1323=) n.3984C>A c.1482C>A (p.Arg494=) | |
11 | g.68433780C>G | CA475460821 | LRP5 | c.3942C>G (p.Arg1314=) c.*2548C>G (n.*2548C>G) c.2199C>G (p.Arg733=) c.3969C>G (p.Arg1323=) n.3984C>G c.1482C>G (p.Arg494=) | |
11 | g.68433780C>T | CA475460822 | LRP5 | c.3942C>T (p.Arg1314=) c.*2548C>T (n.*2548C>T) c.2199C>T (p.Arg733=) c.3969C>T (p.Arg1323=) n.3984C>T c.1482C>T (p.Arg494=) | |
11 | g.68433781C>A | CA381613945 | LRP5 | c.3943C>A (p.Leu1315Met) c.*2549C>A (n.*2549C>A) c.2200C>A (p.Leu734Met) c.3970C>A (p.Leu1324Met) n.3985C>A c.1483C>A (p.Leu495Met) | |
11 | g.68433781C= | CA1980622441 | LRP5 | c.3943C= (p.Leu1315=) c.*2549C= (n.*2549C=) c.2200C= (p.Leu734=) c.3970C= (p.Leu1324=) n.3985C= c.1483C= (p.Leu495=) | |
11 | g.68433781C>G | CA381613946 | LRP5 | c.3943C>G (p.Leu1315Val) c.*2549C>G (n.*2549C>G) c.2200C>G (p.Leu734Val) c.3970C>G (p.Leu1324Val) n.3985C>G c.1483C>G (p.Leu495Val) | |
11 | g.68433781C>T | CA6150164 | LRP5 | c.3943C>T (p.Leu1315=) c.*2549C>T (n.*2549C>T) c.2200C>T (p.Leu734=) c.3970C>T (p.Leu1324=) n.3985C>T c.1483C>T (p.Leu495=) | dbSNP ExAC gnomAD v2 |
11 | g.68433782T>A | CA381613947 | LRP5 | c.3944T>A (p.Leu1315Gln) c.*2550T>A (n.*2550T>A) c.2201T>A (p.Leu734Gln) c.3971T>A (p.Leu1324Gln) n.3986T>A c.1484T>A (p.Leu495Gln) | |
11 | g.68433782T>C | CA381613948 | LRP5 | c.3944T>C (p.Leu1315Pro) c.*2550T>C (n.*2550T>C) c.2201T>C (p.Leu734Pro) c.3971T>C (p.Leu1324Pro) n.3986T>C c.1484T>C (p.Leu495Pro) | |
11 | g.68433782T>G | CA381613949 | LRP5 | c.3944T>G (p.Leu1315Arg) c.*2550T>G (n.*2550T>G) c.2201T>G (p.Leu734Arg) c.3971T>G (p.Leu1324Arg) n.3986T>G c.1484T>G (p.Leu495Arg) | gnomAD v4 |
11 | g.68433783G>A | CA475460825 | LRP5 | c.3945G>A (p.Leu1315=) c.*2551G>A (n.*2551G>A) c.2202G>A (p.Leu734=) c.3972G>A (p.Leu1324=) n.3987G>A c.1485G>A (p.Leu495=) | |
11 | g.68433783G>C | CA475460826 | LRP5 | c.3945G>C (p.Leu1315=) c.*2551G>C (n.*2551G>C) c.2202G>C (p.Leu734=) c.3972G>C (p.Leu1324=) n.3987G>C c.1485G>C (p.Leu495=) | |
11 | g.68433783G>T | CA475460827 | LRP5 | c.3945G>T (p.Leu1315=) c.*2551G>T (n.*2551G>T) c.2202G>T (p.Leu734=) c.3972G>T (p.Leu1324=) n.3987G>T c.1485G>T (p.Leu495=) | |
11 | g.68433784C>A | CA381613950 | LRP5 | c.3946C>A (p.Arg1316Ser) c.*2552C>A (n.*2552C>A) c.2203C>A (p.Arg735Ser) c.3973C>A (p.Arg1325Ser) n.3988C>A c.1486C>A (p.Arg496Ser) | |
11 | g.68433784C= | CA1980622443 | LRP5 | c.3946C= (p.Arg1316=) c.*2552C= (n.*2552C=) c.2203C= (p.Arg735=) c.3973C= (p.Arg1325=) n.3988C= c.1486C= (p.Arg496=) | |
11 | g.68433784C>G | CA381613951 | LRP5 | c.3946C>G (p.Arg1316Gly) c.*2552C>G (n.*2552C>G) c.2203C>G (p.Arg735Gly) c.3973C>G (p.Arg1325Gly) n.3988C>G c.1486C>G (p.Arg496Gly) | dbSNP |
11 | g.68433784C>T | CA224251075 | LRP5 | c.3946C>T (p.Arg1316Cys) c.*2552C>T (n.*2552C>T) c.2203C>T (p.Arg735Cys) c.3973C>T (p.Arg1325Cys) n.3988C>T c.1486C>T (p.Arg496Cys) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68433785G>A | CA6150165 | LRP5 | c.3947G>A (p.Arg1316His) c.*2553G>A (n.*2553G>A) c.2204G>A (p.Arg735His) c.3974G>A (p.Arg1325His) n.3989G>A c.1487G>A (p.Arg496His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68433785G>C | CA381613953 | LRP5 | c.3947G>C (p.Arg1316Pro) c.*2553G>C (n.*2553G>C) c.2204G>C (p.Arg735Pro) c.3974G>C (p.Arg1325Pro) n.3989G>C c.1487G>C (p.Arg496Pro) | gnomAD v4 |
11 | g.68433785G= | CA1980622449 | LRP5 | c.3947G= (p.Arg1316=) c.*2553G= (n.*2553G=) c.2204G= (p.Arg735=) c.3974G= (p.Arg1325=) n.3989G= c.1487G= (p.Arg496=) | |
11 | g.68433785G>T | CA381613952 | LRP5 | c.3947G>T (p.Arg1316Leu) c.*2553G>T (n.*2553G>T) c.2204G>T (p.Arg735Leu) c.3974G>T (p.Arg1325Leu) n.3989G>T c.1487G>T (p.Arg496Leu) | |
11 | g.68433786C>A | CA475460832 | LRP5 | c.3948C>A (p.Arg1316=) c.*2554C>A (n.*2554C>A) c.2205C>A (p.Arg735=) c.3975C>A (p.Arg1325=) n.3990C>A c.1488C>A (p.Arg496=) | |
11 | g.68433786C>G | CA475460831 | LRP5 | c.3948C>G (p.Arg1316=) c.*2554C>G (n.*2554C>G) c.2205C>G (p.Arg735=) c.3975C>G (p.Arg1325=) n.3990C>G c.1488C>G (p.Arg496=) | |
11 | g.68433786C>T | CA475460833 | LRP5 | c.3948C>T (p.Arg1316=) c.*2554C>T (n.*2554C>T) c.2205C>T (p.Arg735=) c.3975C>T (p.Arg1325=) n.3990C>T c.1488C>T (p.Arg496=) | ClinVar dbSNP gnomAD v4 |
11 | g.68433787T>A | CA381613954 | LRP5 | c.3949T>A (p.Cys1317Ser) c.*2555T>A (n.*2555T>A) c.2206T>A (p.Cys736Ser) c.3976T>A (p.Cys1326Ser) n.3991T>A c.1489T>A (p.Cys497Ser) | |
11 | g.68433787T>C | CA381613955 | LRP5 | c.3949T>C (p.Cys1317Arg) c.*2555T>C (n.*2555T>C) c.2206T>C (p.Cys736Arg) c.3976T>C (p.Cys1326Arg) n.3991T>C c.1489T>C (p.Cys497Arg) | |
11 | g.68433787T>G | CA381613956 | LRP5 | c.3949T>G (p.Cys1317Gly) c.*2555T>G (n.*2555T>G) c.2206T>G (p.Cys736Gly) c.3976T>G (p.Cys1326Gly) n.3991T>G c.1489T>G (p.Cys497Gly) | |
11 | g.68433788G>A | CA381613957 | LRP5 | c.3950G>A (p.Cys1317Tyr) c.*2556G>A (n.*2556G>A) c.2207G>A (p.Cys736Tyr) c.3977G>A (p.Cys1326Tyr) n.3992G>A c.1490G>A (p.Cys497Tyr) | gnomAD v4 |
11 | g.68433788G>C | CA381613958 | LRP5 | c.3950G>C (p.Cys1317Ser) c.*2556G>C (n.*2556G>C) c.2207G>C (p.Cys736Ser) c.3977G>C (p.Cys1326Ser) n.3992G>C c.1490G>C (p.Cys497Ser) | |
11 | g.68433788G>T | CA381613959 | LRP5 | c.3950G>T (p.Cys1317Phe) c.*2556G>T (n.*2556G>T) c.2207G>T (p.Cys736Phe) c.3977G>T (p.Cys1326Phe) n.3992G>T c.1490G>T (p.Cys497Phe) | |
11 | g.68433789C>A | CA381613960 | LRP5 | c.3951C>A (p.Cys1317Ter) c.*2557C>A (n.*2557C>A) c.2208C>A (p.Cys736Ter) c.3978C>A (p.Cys1326Ter) n.3993C>A c.1491C>A (p.Cys497Ter) | |
11 | g.68433789C= | CA1980622455 | LRP5 | c.3951C= (p.Cys1317=) c.*2557C= (n.*2557C=) c.2208C= (p.Cys736=) c.3978C= (p.Cys1326=) n.3993C= c.1491C= (p.Cys497=) | |
11 | g.68433789C>G | CA381613961 | LRP5 | c.3951C>G (p.Cys1317Trp) c.*2557C>G (n.*2557C>G) c.2208C>G (p.Cys736Trp) c.3978C>G (p.Cys1326Trp) n.3993C>G c.1491C>G (p.Cys497Trp) | |
11 | g.68433789C>T | CA6150166 | LRP5 | c.3951C>T (p.Cys1317=) c.*2557C>T (n.*2557C>T) c.2208C>T (p.Cys736=) c.3978C>T (p.Cys1326=) n.3993C>T c.1491C>T (p.Cys497=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433790G>A | CA224251082 | LRP5 | c.3952G>A (p.Asp1318Asn) c.*2558G>A (n.*2558G>A) c.2209G>A (p.Asp737Asn) c.3979G>A (p.Asp1327Asn) n.3994G>A c.1492G>A (p.Asp498Asn) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433790G>C | CA381613962 | LRP5 | c.3952G>C (p.Asp1318His) c.*2558G>C (n.*2558G>C) c.2209G>C (p.Asp737His) c.3979G>C (p.Asp1327His) n.3994G>C c.1492G>C (p.Asp498His) | ClinVar |
11 | g.68433790G= | CA1980622460 | LRP5 | c.3952G= (p.Asp1318=) c.*2558G= (n.*2558G=) c.2209G= (p.Asp737=) c.3979G= (p.Asp1327=) n.3994G= c.1492G= (p.Asp498=) | |
11 | g.68433790G>T | CA381613963 | LRP5 | c.3952G>T (p.Asp1318Tyr) c.*2558G>T (n.*2558G>T) c.2209G>T (p.Asp737Tyr) c.3979G>T (p.Asp1327Tyr) n.3994G>T c.1492G>T (p.Asp498Tyr) | |
11 | g.68433791A>C | CA381613964 | LRP5 | c.3953A>C (p.Asp1318Ala) c.*2559A>C (n.*2559A>C) c.2210A>C (p.Asp737Ala) c.3980A>C (p.Asp1327Ala) n.3995A>C c.1493A>C (p.Asp498Ala) | |
11 | g.68433791A>G | CA381613965 | LRP5 | c.3953A>G (p.Asp1318Gly) c.*2559A>G (n.*2559A>G) c.2210A>G (p.Asp737Gly) c.3980A>G (p.Asp1327Gly) n.3995A>G c.1493A>G (p.Asp498Gly) | |
11 | g.68433791A>T | CA381613966 | LRP5 | c.3953A>T (p.Asp1318Val) c.*2559A>T (n.*2559A>T) c.2210A>T (p.Asp737Val) c.3980A>T (p.Asp1327Val) n.3995A>T c.1493A>T (p.Asp498Val) | |
11 | g.68433792C>A | CA381613967 | LRP5 | c.3954C>A (p.Asp1318Glu) c.*2560C>A (n.*2560C>A) c.2211C>A (p.Asp737Glu) c.3981C>A (p.Asp1327Glu) n.3996C>A c.1494C>A (p.Asp498Glu) | |
11 | g.68433792C= | CA1980622465 | LRP5 | c.3954C= (p.Asp1318=) c.*2560C= (n.*2560C=) c.2211C= (p.Asp737=) c.3981C= (p.Asp1327=) n.3996C= c.1494C= (p.Asp498=) | |
11 | g.68433792C>G | CA381613968 | LRP5 | c.3954C>G (p.Asp1318Glu) c.*2560C>G (n.*2560C>G) c.2211C>G (p.Asp737Glu) c.3981C>G (p.Asp1327Glu) n.3996C>G c.1494C>G (p.Asp498Glu) | |
11 | g.68433792C>T | CA6150167 | LRP5 | c.3954C>T (p.Asp1318=) c.*2560C>T (n.*2560C>T) c.2211C>T (p.Asp737=) c.3981C>T (p.Asp1327=) n.3996C>T c.1494C>T (p.Asp498=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433793G>A | CA224251093 | LRP5 | c.3955G>A (p.Gly1319Ser) c.*2561G>A (n.*2561G>A) c.2212G>A (p.Gly738Ser) c.3982G>A (p.Gly1328Ser) n.3997G>A c.1495G>A (p.Gly499Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433793G>C | CA381613969 | LRP5 | c.3955G>C (p.Gly1319Arg) c.*2561G>C (n.*2561G>C) c.2212G>C (p.Gly738Arg) c.3982G>C (p.Gly1328Arg) n.3997G>C c.1495G>C (p.Gly499Arg) | |
11 | g.68433793G= | CA1980622467 | LRP5 | c.3955G= (p.Gly1319=) c.*2561G= (n.*2561G=) c.2212G= (p.Gly738=) c.3982G= (p.Gly1328=) n.3997G= c.1495G= (p.Gly499=) | |
11 | g.68433793G>T | CA381613970 | LRP5 | c.3955G>T (p.Gly1319Cys) c.*2561G>T (n.*2561G>T) c.2212G>T (p.Gly738Cys) c.3982G>T (p.Gly1328Cys) n.3997G>T c.1495G>T (p.Gly499Cys) | |
11 | g.68433794G>A | CA381613971 | LRP5 | c.3956G>A (p.Gly1319Asp) c.*2562G>A (n.*2562G>A) c.2213G>A (p.Gly738Asp) c.3983G>A (p.Gly1328Asp) n.3998G>A c.1496G>A (p.Gly499Asp) | dbSNP gnomAD v2 |
11 | g.68433794G>C | CA381613973 | LRP5 | c.3956G>C (p.Gly1319Ala) c.*2562G>C (n.*2562G>C) c.2213G>C (p.Gly738Ala) c.3983G>C (p.Gly1328Ala) n.3998G>C c.1496G>C (p.Gly499Ala) | gnomAD v4 |
11 | g.68433794G= | CA1980622476 | LRP5 | c.3956G= (p.Gly1319=) c.*2562G= (n.*2562G=) c.2213G= (p.Gly738=) c.3983G= (p.Gly1328=) n.3998G= c.1496G= (p.Gly499=) | |
11 | g.68433794G>T | CA381613972 | LRP5 | c.3956G>T (p.Gly1319Val) c.*2562G>T (n.*2562G>T) c.2213G>T (p.Gly738Val) c.3983G>T (p.Gly1328Val) n.3998G>T c.1496G>T (p.Gly499Val) | |
11 | g.68433795C>A | CA475460839 | LRP5 | c.3957C>A (p.Gly1319=) c.*2563C>A (n.*2563C>A) c.2214C>A (p.Gly738=) c.3984C>A (p.Gly1328=) n.3999C>A c.1497C>A (p.Gly499=) | ClinVar dbSNP gnomAD v4 |
11 | g.68433795C= | CA1980622483 | LRP5 | c.3957C= (p.Gly1319=) c.*2563C= (n.*2563C=) c.2214C= (p.Gly738=) c.3984C= (p.Gly1328=) n.3999C= c.1497C= (p.Gly499=) | |
11 | g.68433795C>G | CA475460840 | LRP5 | c.3957C>G (p.Gly1319=) c.*2563C>G (n.*2563C>G) c.2214C>G (p.Gly738=) c.3984C>G (p.Gly1328=) n.3999C>G c.1497C>G (p.Gly499=) | |
11 | g.68433795C>T | CA6150168 | LRP5 | c.3957C>T (p.Gly1319=) c.*2563C>T (n.*2563C>T) c.2214C>T (p.Gly738=) c.3984C>T (p.Gly1328=) n.3999C>T c.1497C>T (p.Gly499=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433796G>A | CA6150169 | LRP5 | c.3958G>A (p.Glu1320Lys) c.*2564G>A (n.*2564G>A) c.2215G>A (p.Glu739Lys) c.3985G>A (p.Glu1329Lys) n.4000G>A c.1498G>A (p.Glu500Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68433796G>C | CA381613974 | LRP5 | c.3958G>C (p.Glu1320Gln) c.*2564G>C (n.*2564G>C) c.2215G>C (p.Glu739Gln) c.3985G>C (p.Glu1329Gln) n.4000G>C c.1498G>C (p.Glu500Gln) | |
11 | g.68433796G= | CA1980622489 | LRP5 | c.3958G= (p.Glu1320=) c.*2564G= (n.*2564G=) c.2215G= (p.Glu739=) c.3985G= (p.Glu1329=) n.4000G= c.1498G= (p.Glu500=) | |
11 | g.68433796G>T | CA381613975 | LRP5 | c.3958G>T (p.Glu1320Ter) c.*2564G>T (n.*2564G>T) c.2215G>T (p.Glu739Ter) c.3985G>T (p.Glu1329Ter) n.4000G>T c.1498G>T (p.Glu500Ter) | |
11 | g.68433797A>C | CA381613976 | LRP5 | c.3959A>C (p.Glu1320Ala) c.*2565A>C (n.*2565A>C) c.2216A>C (p.Glu739Ala) c.3986A>C (p.Glu1329Ala) n.4001A>C c.1499A>C (p.Glu500Ala) | gnomAD v4 |
11 | g.68433797A>G | CA381613977 | LRP5 | c.3959A>G (p.Glu1320Gly) c.*2565A>G (n.*2565A>G) c.2216A>G (p.Glu739Gly) c.3986A>G (p.Glu1329Gly) n.4001A>G c.1499A>G (p.Glu500Gly) | |
11 | g.68433797A>T | CA381613978 | LRP5 | c.3959A>T (p.Glu1320Val) c.*2565A>T (n.*2565A>T) c.2216A>T (p.Glu739Val) c.3986A>T (p.Glu1329Val) n.4001A>T c.1499A>T (p.Glu500Val) | |
11 | g.68433798G>A | CA475460842 | LRP5 | c.3960G>A (p.Glu1320=) c.*2566G>A (n.*2566G>A) c.2217G>A (p.Glu739=) c.3987G>A (p.Glu1329=) n.4002G>A c.1500G>A (p.Glu500=) | ClinVar |
11 | g.68433798G>C | CA381613979 | LRP5 | c.3960G>C (p.Glu1320Asp) c.*2566G>C (n.*2566G>C) c.2217G>C (p.Glu739Asp) c.3987G>C (p.Glu1329Asp) n.4002G>C c.1500G>C (p.Glu500Asp) | |
11 | g.68433798G>T | CA381613980 | LRP5 | c.3960G>T (p.Glu1320Asp) c.*2566G>T (n.*2566G>T) c.2217G>T (p.Glu739Asp) c.3987G>T (p.Glu1329Asp) n.4002G>T c.1500G>T (p.Glu500Asp) | |
11 | g.68433799G>A | CA381613981 | LRP5 | c.3961G>A (p.Ala1321Thr) c.*2567G>A (n.*2567G>A) c.2218G>A (p.Ala740Thr) c.3988G>A (p.Ala1330Thr) n.4003G>A c.1501G>A (p.Ala501Thr) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
11 | g.68433799G>C | CA381613982 | LRP5 | c.3961G>C (p.Ala1321Pro) c.*2567G>C (n.*2567G>C) c.2218G>C (p.Ala740Pro) c.3988G>C (p.Ala1330Pro) n.4003G>C c.1501G>C (p.Ala501Pro) | |
11 | g.68433799G= | CA1980622498 | LRP5 | c.3961G= (p.Ala1321=) c.*2567G= (n.*2567G=) c.2218G= (p.Ala740=) c.3988G= (p.Ala1330=) n.4003G= c.1501G= (p.Ala501=) | |
11 | g.68433799G>T | CA381613983 | LRP5 | c.3961G>T (p.Ala1321Ser) c.*2567G>T (n.*2567G>T) c.2218G>T (p.Ala740Ser) c.3988G>T (p.Ala1330Ser) n.4003G>T c.1501G>T (p.Ala501Ser) | |
11 | g.68433800C>A | CA381613986 | LRP5 | c.3962C>A (p.Ala1321Glu) c.*2568C>A (n.*2568C>A) c.2219C>A (p.Ala740Glu) c.3989C>A (p.Ala1330Glu) n.4004C>A c.1502C>A (p.Ala501Glu) | |
11 | g.68433800C>G | CA381613985 | LRP5 | c.3962C>G (p.Ala1321Gly) c.*2568C>G (n.*2568C>G) c.2219C>G (p.Ala740Gly) c.3989C>G (p.Ala1330Gly) n.4004C>G c.1502C>G (p.Ala501Gly) | |
11 | g.68433800C>T | CA381613984 | LRP5 | c.3962C>T (p.Ala1321Val) c.*2568C>T (n.*2568C>T) c.2219C>T (p.Ala740Val) c.3989C>T (p.Ala1330Val) n.4004C>T c.1502C>T (p.Ala501Val) | |
11 | g.68433801A= | CA1980622501 | LRP5 | c.3963A= (p.Ala1321=) c.*2569A= (n.*2569A=) c.2220A= (p.Ala740=) c.3990A= (p.Ala1330=) n.4005A= c.1503A= (p.Ala501=) | |
11 | g.68433801A>C | CA6150170 | LRP5 | c.3963A>C (p.Ala1321=) c.*2569A>C (n.*2569A>C) c.2220A>C (p.Ala740=) c.3990A>C (p.Ala1330=) n.4005A>C c.1503A>C (p.Ala501=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433801A>G | CA475460844 | LRP5 | c.3963A>G (p.Ala1321=) c.*2569A>G (n.*2569A>G) c.2220A>G (p.Ala740=) c.3990A>G (p.Ala1330=) n.4005A>G c.1503A>G (p.Ala501=) | |
11 | g.68433801A>T | CA475460846 | LRP5 | c.3963A>T (p.Ala1321=) c.*2569A>T (n.*2569A>T) c.2220A>T (p.Ala740=) c.3990A>T (p.Ala1330=) n.4005A>T c.1503A>T (p.Ala501=) | dbSNP |
11 | g.68433802G>A | CA381613987 | LRP5 | c.3964G>A (p.Asp1322Asn) c.*2570G>A (n.*2570G>A) c.2221G>A (p.Asp741Asn) c.3991G>A (p.Asp1331Asn) n.4006G>A c.1504G>A (p.Asp502Asn) | ClinVar gnomAD v4 |
11 | g.68433802G>C | CA381613988 | LRP5 | c.3964G>C (p.Asp1322His) c.*2570G>C (n.*2570G>C) c.2221G>C (p.Asp741His) c.3991G>C (p.Asp1331His) n.4006G>C c.1504G>C (p.Asp502His) | |
11 | g.68433802G>T | CA381613989 | LRP5 | c.3964G>T (p.Asp1322Tyr) c.*2570G>T (n.*2570G>T) c.2221G>T (p.Asp741Tyr) c.3991G>T (p.Asp1331Tyr) n.4006G>T c.1504G>T (p.Asp502Tyr) | |
11 | g.68433803A= | CA1980622503 | LRP5 | c.3965A= (p.Asp1322=) c.*2571A= (n.*2571A=) c.2222A= (p.Asp741=) c.3992A= (p.Asp1331=) n.4007A= c.1505A= (p.Asp502=) | |
11 | g.68433803A>C | CA381613990 | LRP5 | c.3965A>C (p.Asp1322Ala) c.*2571A>C (n.*2571A>C) c.2222A>C (p.Asp741Ala) c.3992A>C (p.Asp1331Ala) n.4007A>C c.1505A>C (p.Asp502Ala) | |
11 | g.68433803A>G | CA381613991 | LRP5 | c.3965A>G (p.Asp1322Gly) c.*2571A>G (n.*2571A>G) c.2222A>G (p.Asp741Gly) c.3992A>G (p.Asp1331Gly) n.4007A>G c.1505A>G (p.Asp502Gly) | dbSNP gnomAD v4 |
11 | g.68433803A>T | CA381613992 | LRP5 | c.3965A>T (p.Asp1322Val) c.*2571A>T (n.*2571A>T) c.2222A>T (p.Asp741Val) c.3992A>T (p.Asp1331Val) n.4007A>T c.1505A>T (p.Asp502Val) | |
11 | g.68433804C>A | CA381613993 | LRP5 | c.3966C>A (p.Asp1322Glu) c.*2572C>A (n.*2572C>A) c.2223C>A (p.Asp741Glu) c.3993C>A (p.Asp1331Glu) n.4008C>A c.1506C>A (p.Asp502Glu) | |
11 | g.68433804C>G | CA381613994 | LRP5 | c.3966C>G (p.Asp1322Glu) c.*2572C>G (n.*2572C>G) c.2223C>G (p.Asp741Glu) c.3993C>G (p.Asp1331Glu) n.4008C>G c.1506C>G (p.Asp502Glu) | |
11 | g.68433804C>T | CA475460851 | LRP5 | c.3966C>T (p.Asp1322=) c.*2572C>T (n.*2572C>T) c.2223C>T (p.Asp741=) c.3993C>T (p.Asp1331=) n.4008C>T c.1506C>T (p.Asp502=) | |
11 | g.68433805T>A | CA381613995 | LRP5 | c.3967T>A (p.Cys1323Ser) c.*2573T>A (n.*2573T>A) c.2224T>A (p.Cys742Ser) c.3994T>A (p.Cys1332Ser) n.4009T>A c.1507T>A (p.Cys503Ser) | |
11 | g.68433805T>C | CA381613996 | LRP5 | c.3967T>C (p.Cys1323Arg) c.*2573T>C (n.*2573T>C) c.2224T>C (p.Cys742Arg) c.3994T>C (p.Cys1332Arg) n.4009T>C c.1507T>C (p.Cys503Arg) | |
11 | g.68433805T>G | CA381613997 | LRP5 | c.3967T>G (p.Cys1323Gly) c.*2573T>G (n.*2573T>G) c.2224T>G (p.Cys742Gly) c.3994T>G (p.Cys1332Gly) n.4009T>G c.1507T>G (p.Cys503Gly) | |
11 | g.68433805T= | CA1980622505 | LRP5 | c.3967T= (p.Cys1323=) c.*2573T= (n.*2573T=) c.2224T= (p.Cys742=) c.3994T= (p.Cys1332=) n.4009T= c.1507T= (p.Cys503=) | |
11 | g.68433806G>A | CA381613998 | LRP5 | c.3968G>A (p.Cys1323Tyr) c.*2574G>A (n.*2574G>A) c.2225G>A (p.Cys742Tyr) c.3995G>A (p.Cys1332Tyr) n.4010G>A c.1508G>A (p.Cys503Tyr) | dbSNP |
11 | g.68433806G>C | CA6150171 | LRP5 | c.3968G>C (p.Cys1323Ser) c.*2574G>C (n.*2574G>C) c.2225G>C (p.Cys742Ser) c.3995G>C (p.Cys1332Ser) n.4010G>C c.1508G>C (p.Cys503Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433806G= | CA1980622510 | LRP5 | c.3968G= (p.Cys1323=) c.*2574G= (n.*2574G=) c.2225G= (p.Cys742=) c.3995G= (p.Cys1332=) n.4010G= c.1508G= (p.Cys503=) | |
11 | g.68433806G>T | CA381613999 | LRP5 | c.3968G>T (p.Cys1323Phe) c.*2574G>T (n.*2574G>T) c.2225G>T (p.Cys742Phe) c.3995G>T (p.Cys1332Phe) n.4010G>T c.1508G>T (p.Cys503Phe) | |
11 | g.68433806_68433807insGGG | CA600239232 | LRP5 | c.3968_3969insGGG (p.Cys1323delinsTrpGly) c.*2574_*2575insGGG (n.*2574_*2575insGGG) c.2225_2226insGGG (p.Cys742delinsTrpGly) c.3995_3996insGGG (p.Cys1332delinsTrpGly) n.4010_4011insGGG c.1508_1509insGGG (p.Cys503delinsTrpGly) | dbSNP gnomAD v2 |
11 | g.68433806_68433816delinsGTCAGGACCGC | CA1980622512 | LRP5 | c.3968_3978delinsGTCAGGACCGC (p.Cys1323=) c.*2574_*2584delinsGTCAGGACCGC (n.*2574_*2584delinsGTCAGGACCGC) c.2225_2235delinsGTCAGGACCGC (p.Cys742=) c.3995_4005delinsGTCAGGACCGC (p.Cys1332=) n.4010_4020delinsGTCAGGACCGC c.1508_1518delinsGTCAGGACCGC (p.Cys503=) | |
11 | g.68433807T>A | CA381614000 | LRP5 | c.3969T>A (p.Cys1323Ter) c.*2575T>A (n.*2575T>A) c.2226T>A (p.Cys742Ter) c.3996T>A (p.Cys1332Ter) n.4011T>A c.1509T>A (p.Cys503Ter) | |
11 | g.68433807T>C | CA475460854 | LRP5 | c.3969T>C (p.Cys1323=) c.*2575T>C (n.*2575T>C) c.2226T>C (p.Cys742=) c.3996T>C (p.Cys1332=) n.4011T>C c.1509T>C (p.Cys503=) | |
11 | g.68433807T>G | CA381614001 | LRP5 | c.3969T>G (p.Cys1323Trp) c.*2575T>G (n.*2575T>G) c.2226T>G (p.Cys742Trp) c.3996T>G (p.Cys1332Trp) n.4011T>G c.1509T>G (p.Cys503Trp) | |
11 | g.68433807T= | CA1980622515 | LRP5 | c.3969T= (p.Cys1323=) c.*2575T= (n.*2575T=) c.2226T= (p.Cys742=) c.3996T= (p.Cys1332=) n.4011T= c.1509T= (p.Cys503=) | |
11 | g.68433811_68433820del | CA679587182 | LRP5 | c.3973_3982del (p.Asp1325ThrfsTer?) c.*2579_*2588del (n.*2579_*2588del) c.2230_2239del (p.Asp744ThrfsTer?) c.4000_4009del (p.Asp1334ThrfsTer?) n.4015_4024del c.1513_1522del (p.Asp505ThrfsTer?) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68433807_68433808insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC | CA600239233 | LRP5 | c.3969_3970insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC c.*2575_*2576insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC (n.*2575_*2576insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC) c.2226_2227insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC c.3996_3997insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC n.4011_4012insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC c.1509_1510insTTTGCTGGGCGGGGCTGCGTGTGATGTTCTCCTCTGTCCCTCCCC | dbSNP gnomAD v2 |
11 | g.68433808C>A | CA381614002 | LRP5 | c.3970C>A (p.Gln1324Lys) c.*2576C>A (n.*2576C>A) c.2227C>A (p.Gln743Lys) c.3997C>A (p.Gln1333Lys) n.4012C>A c.1510C>A (p.Gln504Lys) | |
11 | g.68433808C>G | CA381614004 | LRP5 | c.3970C>G (p.Gln1324Glu) c.*2576C>G (n.*2576C>G) c.2227C>G (p.Gln743Glu) c.3997C>G (p.Gln1333Glu) n.4012C>G c.1510C>G (p.Gln504Glu) | |
11 | g.68433808C>T | CA381614003 | LRP5 | c.3970C>T (p.Gln1324Ter) c.*2576C>T (n.*2576C>T) c.2227C>T (p.Gln743Ter) c.3997C>T (p.Gln1333Ter) n.4012C>T c.1510C>T (p.Gln504Ter) | |
11 | g.68433809A= | CA1980622522 | LRP5 | c.3971A= (p.Gln1324=) c.*2577A= (n.*2577A=) c.2228A= (p.Gln743=) c.3998A= (p.Gln1333=) n.4013A= c.1511A= (p.Gln504=) | |
11 | g.68433809A>C | CA381614005 | LRP5 | c.3971A>C (p.Gln1324Pro) c.*2577A>C (n.*2577A>C) c.2228A>C (p.Gln743Pro) c.3998A>C (p.Gln1333Pro) n.4013A>C c.1511A>C (p.Gln504Pro) | |
11 | g.68433809A>G | CA6150172 | LRP5 | c.3971A>G (p.Gln1324Arg) c.*2577A>G (n.*2577A>G) c.2228A>G (p.Gln743Arg) c.3998A>G (p.Gln1333Arg) n.4013A>G c.1511A>G (p.Gln504Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433809A>T | CA381614006 | LRP5 | c.3971A>T (p.Gln1324Leu) c.*2577A>T (n.*2577A>T) c.2228A>T (p.Gln743Leu) c.3998A>T (p.Gln1333Leu) n.4013A>T c.1511A>T (p.Gln504Leu) | |
11 | g.68433810G>A | CA475460856 | LRP5 | c.3972G>A (p.Gln1324=) c.*2578G>A (n.*2578G>A) c.2229G>A (p.Gln743=) c.3999G>A (p.Gln1333=) n.4014G>A c.1512G>A (p.Gln504=) | |
11 | g.68433810G>C | CA381614007 | LRP5 | c.3972G>C (p.Gln1324His) c.*2578G>C (n.*2578G>C) c.2229G>C (p.Gln743His) c.3999G>C (p.Gln1333His) n.4014G>C c.1512G>C (p.Gln504His) | |
11 | g.68433810G>T | CA381614008 | LRP5 | c.3972G>T (p.Gln1324His) c.*2578G>T (n.*2578G>T) c.2229G>T (p.Gln743His) c.3999G>T (p.Gln1333His) n.4014G>T c.1512G>T (p.Gln504His) | |
11 | g.68433811G>A | CA381614009 | LRP5 | c.3973G>A (p.Asp1325Asn) c.*2579G>A (n.*2579G>A) c.2230G>A (p.Asp744Asn) c.4000G>A (p.Asp1334Asn) n.4015G>A c.1513G>A (p.Asp505Asn) | COSMIC |
11 | g.68433811G>C | CA381614010 | LRP5 | c.3973G>C (p.Asp1325His) c.*2579G>C (n.*2579G>C) c.2230G>C (p.Asp744His) c.4000G>C (p.Asp1334His) n.4015G>C c.1513G>C (p.Asp505His) | |
11 | g.68433811G>T | CA381614011 | LRP5 | c.3973G>T (p.Asp1325Tyr) c.*2579G>T (n.*2579G>T) c.2230G>T (p.Asp744Tyr) c.4000G>T (p.Asp1334Tyr) n.4015G>T c.1513G>T (p.Asp505Tyr) | |
11 | g.68433812A>C | CA381614012 | LRP5 | c.3974A>C (p.Asp1325Ala) c.*2580A>C (n.*2580A>C) c.2231A>C (p.Asp744Ala) c.4001A>C (p.Asp1334Ala) n.4016A>C c.1514A>C (p.Asp505Ala) | |
11 | g.68433812A>G | CA381614013 | LRP5 | c.3974A>G (p.Asp1325Gly) c.*2580A>G (n.*2580A>G) c.2231A>G (p.Asp744Gly) c.4001A>G (p.Asp1334Gly) n.4016A>G c.1514A>G (p.Asp505Gly) | |
11 | g.68433812A>T | CA381614014 | LRP5 | c.3974A>T (p.Asp1325Val) c.*2580A>T (n.*2580A>T) c.2231A>T (p.Asp744Val) c.4001A>T (p.Asp1334Val) n.4016A>T c.1514A>T (p.Asp505Val) | |
11 | g.68433813C>A | CA381614015 | LRP5 | c.3975C>A (p.Asp1325Glu) c.*2581C>A (n.*2581C>A) c.2232C>A (p.Asp744Glu) c.4002C>A (p.Asp1334Glu) n.4017C>A c.1515C>A (p.Asp505Glu) | |
11 | g.68433813C= | CA1980622531 | LRP5 | c.3975C= (p.Asp1325=) c.*2581C= (n.*2581C=) c.2232C= (p.Asp744=) c.4002C= (p.Asp1334=) n.4017C= c.1515C= (p.Asp505=) | |
11 | g.68433813C>G | CA381614016 | LRP5 | c.3975C>G (p.Asp1325Glu) c.*2581C>G (n.*2581C>G) c.2232C>G (p.Asp744Glu) c.4002C>G (p.Asp1334Glu) n.4017C>G c.1515C>G (p.Asp505Glu) | |
11 | g.68433813C>T | CA475460860 | LRP5 | c.3975C>T (p.Asp1325=) c.*2581C>T (n.*2581C>T) c.2232C>T (p.Asp744=) c.4002C>T (p.Asp1334=) n.4017C>T c.1515C>T (p.Asp505=) | dbSNP |
11 | g.68433814C>A | CA381614017 | LRP5 | c.3976C>A (p.Arg1326Ser) c.*2582C>A (n.*2582C>A) c.2233C>A (p.Arg745Ser) c.4003C>A (p.Arg1335Ser) n.4018C>A c.1516C>A (p.Arg506Ser) | |
11 | g.68433814C= | CA1980622537 | LRP5 | c.3976C= (p.Arg1326=) c.*2582C= (n.*2582C=) c.2233C= (p.Arg745=) c.4003C= (p.Arg1335=) n.4018C= c.1516C= (p.Arg506=) | |
11 | g.68433814C>G | CA224251103 | LRP5 | c.3976C>G (p.Arg1326Gly) c.*2582C>G (n.*2582C>G) c.2233C>G (p.Arg745Gly) c.4003C>G (p.Arg1335Gly) n.4018C>G c.1516C>G (p.Arg506Gly) | dbSNP gnomAD v4 |
11 | g.68433814C>T | CA381614018 | LRP5 | c.3976C>T (p.Arg1326Cys) c.*2582C>T (n.*2582C>T) c.2233C>T (p.Arg745Cys) c.4003C>T (p.Arg1335Cys) n.4018C>T c.1516C>T (p.Arg506Cys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433815_68433818del | CA2792542424 | LRP5 | c.3977_3980del (p.Arg1326GlnfsTer?) c.*2583_*2586del (n.*2583_*2586del) c.2234_2237del (p.Arg745GlnfsTer?) c.4004_4007del (p.Arg1335GlnfsTer?) n.4019_4022del c.1517_1520del (p.Arg506GlnfsTer?) | |
11 | g.68433815G>A | CA6150173 | LRP5 | c.3977G>A (p.Arg1326His) c.*2583G>A (n.*2583G>A) c.2234G>A (p.Arg745His) c.4004G>A (p.Arg1335His) n.4019G>A c.1517G>A (p.Arg506His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433815G>C | CA381614019 | LRP5 | c.3977G>C (p.Arg1326Pro) c.*2583G>C (n.*2583G>C) c.2234G>C (p.Arg745Pro) c.4004G>C (p.Arg1335Pro) n.4019G>C c.1517G>C (p.Arg506Pro) | gnomAD v4 |
11 | g.68433815G= | CA1980622551 | LRP5 | c.3977G= (p.Arg1326=) c.*2583G= (n.*2583G=) c.2234G= (p.Arg745=) c.4004G= (p.Arg1335=) n.4019G= c.1517G= (p.Arg506=) | |
11 | g.68433815G>T | CA224251122 | LRP5 | c.3977G>T (p.Arg1326Leu) c.*2583G>T (n.*2583G>T) c.2234G>T (p.Arg745Leu) c.4004G>T (p.Arg1335Leu) n.4019G>T c.1517G>T (p.Arg506Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433816C>A | CA6150174 | LRP5 | c.3978C>A (p.Arg1326=) c.*2584C>A (n.*2584C>A) c.2235C>A (p.Arg745=) c.4005C>A (p.Arg1335=) n.4020C>A c.1518C>A (p.Arg506=) | dbSNP ExAC gnomAD v2 |
11 | g.68433816C= | CA1980622559 | LRP5 | c.3978C= (p.Arg1326=) c.*2584C= (n.*2584C=) c.2235C= (p.Arg745=) c.4005C= (p.Arg1335=) n.4020C= c.1518C= (p.Arg506=) | |
11 | g.68433816C>G | CA475460861 | LRP5 | c.3978C>G (p.Arg1326=) c.*2584C>G (n.*2584C>G) c.2235C>G (p.Arg745=) c.4005C>G (p.Arg1335=) n.4020C>G c.1518C>G (p.Arg506=) | |
11 | g.68433816C>T | CA475460862 | LRP5 | c.3978C>T (p.Arg1326=) c.*2584C>T (n.*2584C>T) c.2235C>T (p.Arg745=) c.4005C>T (p.Arg1335=) n.4020C>T c.1518C>T (p.Arg506=) | gnomAD v4 |
11 | g.68433817T>A | CA381614020 | LRP5 | c.3979T>A (p.Ser1327Thr) c.*2585T>A (n.*2585T>A) c.2236T>A (p.Ser746Thr) c.4006T>A (p.Ser1336Thr) n.4021T>A c.1519T>A (p.Ser507Thr) | |
11 | g.68433817T>C | CA381614021 | LRP5 | c.3979T>C (p.Ser1327Pro) c.*2585T>C (n.*2585T>C) c.2236T>C (p.Ser746Pro) c.4006T>C (p.Ser1336Pro) n.4021T>C c.1519T>C (p.Ser507Pro) | gnomAD v4 |
11 | g.68433817T>G | CA381614022 | LRP5 | c.3979T>G (p.Ser1327Ala) c.*2585T>G (n.*2585T>G) c.2236T>G (p.Ser746Ala) c.4006T>G (p.Ser1336Ala) n.4021T>G c.1519T>G (p.Ser507Ala) | |
11 | g.68433818C>A | CA381614023 | LRP5 | c.3980C>A (p.Ser1327Ter) c.*2586C>A (n.*2586C>A) c.2237C>A (p.Ser746Ter) c.4007C>A (p.Ser1336Ter) n.4022C>A c.1520C>A (p.Ser507Ter) | gnomAD v4 |
11 | g.68433818C>G | CA381614024 | LRP5 | c.3980C>G (p.Ser1327Ter) c.*2586C>G (n.*2586C>G) c.2237C>G (p.Ser746Ter) c.4007C>G (p.Ser1336Ter) n.4022C>G c.1520C>G (p.Ser507Ter) | |
11 | g.68433818C>T | CA381614025 | LRP5 | c.3980C>T (p.Ser1327Leu) c.*2586C>T (n.*2586C>T) c.2237C>T (p.Ser746Leu) c.4007C>T (p.Ser1336Leu) n.4022C>T c.1520C>T (p.Ser507Leu) | gnomAD v4 |
11 | g.68433819A>C | CA475460865 | LRP5 | c.3981A>C (p.Ser1327=) c.*2587A>C (n.*2587A>C) c.2238A>C (p.Ser746=) c.4008A>C (p.Ser1336=) n.4023A>C c.1521A>C (p.Ser507=) | gnomAD v4 |
11 | g.68433819A>G | CA475460866 | LRP5 | c.3981A>G (p.Ser1327=) c.*2587A>G (n.*2587A>G) c.2238A>G (p.Ser746=) c.4008A>G (p.Ser1336=) n.4023A>G c.1521A>G (p.Ser507=) | |
11 | g.68433819A>T | CA475460867 | LRP5 | c.3981A>T (p.Ser1327=) c.*2587A>T (n.*2587A>T) c.2238A>T (p.Ser746=) c.4008A>T (p.Ser1336=) n.4023A>T c.1521A>T (p.Ser507=) | |
11 | g.68433820G>A | CA381614028 | LRP5 | c.3982G>A (p.Asp1328Asn) c.*2588G>A (n.*2588G>A) c.2239G>A (p.Asp747Asn) c.4009G>A (p.Asp1337Asn) n.4024G>A c.1522G>A (p.Asp508Asn) | gnomAD v4 |
11 | g.68433820G>C | CA381614027 | LRP5 | c.3982G>C (p.Asp1328His) c.*2588G>C (n.*2588G>C) c.2239G>C (p.Asp747His) c.4009G>C (p.Asp1337His) n.4024G>C c.1522G>C (p.Asp508His) | |
11 | g.68433820G>T | CA381614026 | LRP5 | c.3982G>T (p.Asp1328Tyr) c.*2588G>T (n.*2588G>T) c.2239G>T (p.Asp747Tyr) c.4009G>T (p.Asp1337Tyr) n.4024G>T c.1522G>T (p.Asp508Tyr) | |
11 | g.68433821A>C | CA381614029 | LRP5 | c.3983A>C (p.Asp1328Ala) c.*2589A>C (n.*2589A>C) c.2240A>C (p.Asp747Ala) c.4010A>C (p.Asp1337Ala) n.4025A>C c.1523A>C (p.Asp508Ala) | |
11 | g.68433821A>G | CA381614030 | LRP5 | c.3983A>G (p.Asp1328Gly) c.*2589A>G (n.*2589A>G) c.2240A>G (p.Asp747Gly) c.4010A>G (p.Asp1337Gly) n.4025A>G c.1523A>G (p.Asp508Gly) | |
11 | g.68433821A>T | CA381614031 | LRP5 | c.3983A>T (p.Asp1328Val) c.*2589A>T (n.*2589A>T) c.2240A>T (p.Asp747Val) c.4010A>T (p.Asp1337Val) n.4025A>T c.1523A>T (p.Asp508Val) | |
11 | g.68433822C>A | CA6150176 | LRP5 | c.3984C>A (p.Asp1328Glu) c.*2590C>A (n.*2590C>A) c.2241C>A (p.Asp747Glu) c.4011C>A (p.Asp1337Glu) n.4026C>A c.1524C>A (p.Asp508Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433822C= | CA1980622566 | LRP5 | c.3984C= (p.Asp1328=) c.*2590C= (n.*2590C=) c.2241C= (p.Asp747=) c.4011C= (p.Asp1337=) n.4026C= c.1524C= (p.Asp508=) | |
11 | g.68433822C>G | CA381614032 | LRP5 | c.3984C>G (p.Asp1328Glu) c.*2590C>G (n.*2590C>G) c.2241C>G (p.Asp747Glu) c.4011C>G (p.Asp1337Glu) n.4026C>G c.1524C>G (p.Asp508Glu) | gnomAD v4 |
11 | g.68433822C>T | CA6150175 | LRP5 | c.3984C>T (p.Asp1328=) c.*2590C>T (n.*2590C>T) c.2241C>T (p.Asp747=) c.4011C>T (p.Asp1337=) n.4026C>T c.1524C>T (p.Asp508=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433823G>A | CA6150177 | LRP5 | c.3985G>A (p.Glu1329Lys) c.*2591G>A (n.*2591G>A) c.2242G>A (p.Glu748Lys) c.4012G>A (p.Glu1338Lys) n.4027G>A c.1525G>A (p.Glu509Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433823G>C | CA381614033 | LRP5 | c.3985G>C (p.Glu1329Gln) c.*2591G>C (n.*2591G>C) c.2242G>C (p.Glu748Gln) c.4012G>C (p.Glu1338Gln) n.4027G>C c.1525G>C (p.Glu509Gln) | |
11 | g.68433823G= | CA1980622572 | LRP5 | c.3985G= (p.Glu1329=) c.*2591G= (n.*2591G=) c.2242G= (p.Glu748=) c.4012G= (p.Glu1338=) n.4027G= c.1525G= (p.Glu509=) | |
11 | g.68433823G>T | CA381614034 | LRP5 | c.3985G>T (p.Glu1329Ter) c.*2591G>T (n.*2591G>T) c.2242G>T (p.Glu748Ter) c.4012G>T (p.Glu1338Ter) n.4027G>T c.1525G>T (p.Glu509Ter) | gnomAD v4 |
11 | g.68433825_68433836dup | CA600239234 | LRP5 | c.3987_3998dup (p.Cys1332_Asp1333insGluAlaAspCys) c.*2593_*2604dup (n.*2593_*2604dup) c.2244_2255dup (p.Cys751_Asp752insGluAlaAspCys) c.4014_4025dup (p.Cys1341_Asp1342insGluAlaAspCys) n.4029_4040dup c.1527_1538dup (p.Cys512_Asp513insGluAlaAspCys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433824A= | CA1980622577 | LRP5 | c.3986A= (p.Glu1329=) c.*2592A= (n.*2592A=) c.2243A= (p.Glu748=) c.4013A= (p.Glu1338=) n.4028A= c.1526A= (p.Glu509=) | |
11 | g.68433824A>C | CA381614035 | LRP5 | c.3986A>C (p.Glu1329Ala) c.*2592A>C (n.*2592A>C) c.2243A>C (p.Glu748Ala) c.4013A>C (p.Glu1338Ala) n.4028A>C c.1526A>C (p.Glu509Ala) | |
11 | g.68433824A>G | CA381614036 | LRP5 | c.3986A>G (p.Glu1329Gly) c.*2592A>G (n.*2592A>G) c.2243A>G (p.Glu748Gly) c.4013A>G (p.Glu1338Gly) n.4028A>G c.1526A>G (p.Glu509Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433824A>T | CA381614037 | LRP5 | c.3986A>T (p.Glu1329Val) c.*2592A>T (n.*2592A>T) c.2243A>T (p.Glu748Val) c.4013A>T (p.Glu1338Val) n.4028A>T c.1526A>T (p.Glu509Val) | |
11 | g.68433825G>A | CA6150178 | LRP5 | c.3987G>A (p.Glu1329=) c.*2593G>A (n.*2593G>A) c.2244G>A (p.Glu748=) c.4014G>A (p.Glu1338=) n.4029G>A c.1527G>A (p.Glu509=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433825G>C | CA6150179 | LRP5 | c.3987G>C (p.Glu1329Asp) c.*2593G>C (n.*2593G>C) c.2244G>C (p.Glu748Asp) c.4014G>C (p.Glu1338Asp) n.4029G>C c.1527G>C (p.Glu509Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68433825G= | CA1980622585 | LRP5 | c.3987G= (p.Glu1329=) c.*2593G= (n.*2593G=) c.2244G= (p.Glu748=) c.4014G= (p.Glu1338=) n.4029G= c.1527G= (p.Glu509=) | |
11 | g.68433825G>T | CA381614038 | LRP5 | c.3987G>T (p.Glu1329Asp) c.*2593G>T (n.*2593G>T) c.2244G>T (p.Glu748Asp) c.4014G>T (p.Glu1338Asp) n.4029G>T c.1527G>T (p.Glu509Asp) | gnomAD v4 |
11 | g.68433826G>A | CA381614039 | LRP5 | c.3988G>A (p.Ala1330Thr) c.*2594G>A (n.*2594G>A) c.2245G>A (p.Ala749Thr) c.4015G>A (p.Ala1339Thr) n.4030G>A c.1528G>A (p.Ala510Thr) | dbSNP gnomAD v4 |
11 | g.68433826G>C | CA381614040 | LRP5 | c.3988G>C (p.Ala1330Pro) c.*2594G>C (n.*2594G>C) c.2245G>C (p.Ala749Pro) c.4015G>C (p.Ala1339Pro) n.4030G>C c.1528G>C (p.Ala510Pro) | |
11 | g.68433826G>T | CA381614041 | LRP5 | c.3988G>T (p.Ala1330Ser) c.*2594G>T (n.*2594G>T) c.2245G>T (p.Ala749Ser) c.4015G>T (p.Ala1339Ser) n.4030G>T c.1528G>T (p.Ala510Ser) | gnomAD v4 |
11 | g.68433827C>A | CA381614042 | LRP5 | c.3989C>A (p.Ala1330Glu) c.*2595C>A (n.*2595C>A) c.2246C>A (p.Ala749Glu) c.4016C>A (p.Ala1339Glu) n.4031C>A c.1529C>A (p.Ala510Glu) | |
11 | g.68433827C= | CA1980622591 | LRP5 | c.3989C= (p.Ala1330=) c.*2595C= (n.*2595C=) c.2246C= (p.Ala749=) c.4016C= (p.Ala1339=) n.4031C= c.1529C= (p.Ala510=) | |
11 | g.68433827C>G | CA381614043 | LRP5 | c.3989C>G (p.Ala1330Gly) c.*2595C>G (n.*2595C>G) c.2246C>G (p.Ala749Gly) c.4016C>G (p.Ala1339Gly) n.4031C>G c.1529C>G (p.Ala510Gly) | |
11 | g.68433827C>T | CA6150180 | LRP5 | c.3989C>T (p.Ala1330Val) c.*2595C>T (n.*2595C>T) c.2246C>T (p.Ala749Val) c.4016C>T (p.Ala1339Val) n.4031C>T c.1529C>T (p.Ala510Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433828G>A | CA241024 | LRP5 | c.3990G>A (p.Ala1330=) c.*2596G>A (n.*2596G>A) c.2247G>A (p.Ala749=) c.4017G>A (p.Ala1339=) n.4032G>A c.1530G>A (p.Ala510=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433828G>C | CA475460878 | LRP5 | c.3990G>C (p.Ala1330=) c.*2596G>C (n.*2596G>C) c.2247G>C (p.Ala749=) c.4017G>C (p.Ala1339=) n.4032G>C c.1530G>C (p.Ala510=) | |
11 | g.68433828G= | CA1980622598 | LRP5 | c.3990G= (p.Ala1330=) c.*2596G= (n.*2596G=) c.2247G= (p.Ala749=) c.4017G= (p.Ala1339=) n.4032G= c.1530G= (p.Ala510=) | |
11 | g.68433828G>T | CA475460877 | LRP5 | c.3990G>T (p.Ala1330=) c.*2596G>T (n.*2596G>T) c.2247G>T (p.Ala749=) c.4017G>T (p.Ala1339=) n.4032G>T c.1530G>T (p.Ala510=) | |
11 | g.68433829G>A | CA381614044 | LRP5 | c.3991G>A (p.Asp1331Asn) c.*2597G>A (n.*2597G>A) c.2248G>A (p.Asp750Asn) c.4018G>A (p.Asp1340Asn) n.4033G>A c.1531G>A (p.Asp511Asn) | COSMIC |
11 | g.68433829G>C | CA381614045 | LRP5 | c.3991G>C (p.Asp1331His) c.*2597G>C (n.*2597G>C) c.2248G>C (p.Asp750His) c.4018G>C (p.Asp1340His) n.4033G>C c.1531G>C (p.Asp511His) | |
11 | g.68433829G>T | CA381614046 | LRP5 | c.3991G>T (p.Asp1331Tyr) c.*2597G>T (n.*2597G>T) c.2248G>T (p.Asp750Tyr) c.4018G>T (p.Asp1340Tyr) n.4033G>T c.1531G>T (p.Asp511Tyr) | gnomAD v4 |
11 | g.68433830A= | CA1980622608 | LRP5 | c.3992A= (p.Asp1331=) c.*2598A= (n.*2598A=) c.2249A= (p.Asp750=) c.4019A= (p.Asp1340=) n.4034A= c.1532A= (p.Asp511=) | |
11 | g.68433830A>C | CA381614047 | LRP5 | c.3992A>C (p.Asp1331Ala) c.*2598A>C (n.*2598A>C) c.2249A>C (p.Asp750Ala) c.4019A>C (p.Asp1340Ala) n.4034A>C c.1532A>C (p.Asp511Ala) | |
11 | g.68433830A>G | CA381614048 | LRP5 | c.3992A>G (p.Asp1331Gly) c.*2598A>G (n.*2598A>G) c.2249A>G (p.Asp750Gly) c.4019A>G (p.Asp1340Gly) n.4034A>G c.1532A>G (p.Asp511Gly) | |
11 | g.68433830A>T | CA381614049 | LRP5 | c.3992A>T (p.Asp1331Val) c.*2598A>T (n.*2598A>T) c.2249A>T (p.Asp750Val) c.4019A>T (p.Asp1340Val) n.4034A>T c.1532A>T (p.Asp511Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68433831C>A | CA381614050 | LRP5 | c.3993C>A (p.Asp1331Glu) c.*2599C>A (n.*2599C>A) c.2250C>A (p.Asp750Glu) c.4020C>A (p.Asp1340Glu) n.4035C>A c.1533C>A (p.Asp511Glu) | |
11 | g.68433831C>G | CA381614051 | LRP5 | c.3993C>G (p.Asp1331Glu) c.*2599C>G (n.*2599C>G) c.2250C>G (p.Asp750Glu) c.4020C>G (p.Asp1340Glu) n.4035C>G c.1533C>G (p.Asp511Glu) | |
11 | g.68433831C>T | CA475460882 | LRP5 | c.3993C>T (p.Asp1331=) c.*2599C>T (n.*2599C>T) c.2250C>T (p.Asp750=) c.4020C>T (p.Asp1340=) n.4035C>T c.1533C>T (p.Asp511=) | |
11 | g.68433832T>A | CA381614052 | LRP5 | c.3994T>A (p.Cys1332Ser) c.*2600T>A (n.*2600T>A) c.2251T>A (p.Cys751Ser) c.4021T>A (p.Cys1341Ser) n.4036T>A c.1534T>A (p.Cys512Ser) | |
11 | g.68433832T>C | CA381614054 | LRP5 | c.3994T>C (p.Cys1332Arg) c.*2600T>C (n.*2600T>C) c.2251T>C (p.Cys751Arg) c.4021T>C (p.Cys1341Arg) n.4036T>C c.1534T>C (p.Cys512Arg) | |
11 | g.68433832T>G | CA381614053 | LRP5 | c.3994T>G (p.Cys1332Gly) c.*2600T>G (n.*2600T>G) c.2251T>G (p.Cys751Gly) c.4021T>G (p.Cys1341Gly) n.4036T>G c.1534T>G (p.Cys512Gly) | |
11 | g.68433833G>A | CA381614055 | LRP5 | c.3995G>A (p.Cys1332Tyr) c.*2601G>A (n.*2601G>A) c.2252G>A (p.Cys751Tyr) c.4022G>A (p.Cys1341Tyr) n.4037G>A c.1535G>A (p.Cys512Tyr) | gnomAD v4 |
11 | g.68433833G>C | CA381614056 | LRP5 | c.3995G>C (p.Cys1332Ser) c.*2601G>C (n.*2601G>C) c.2252G>C (p.Cys751Ser) c.4022G>C (p.Cys1341Ser) n.4037G>C c.1535G>C (p.Cys512Ser) | |
11 | g.68433833G>T | CA381614057 | LRP5 | c.3995G>T (p.Cys1332Phe) c.*2601G>T (n.*2601G>T) c.2252G>T (p.Cys751Phe) c.4022G>T (p.Cys1341Phe) n.4037G>T c.1535G>T (p.Cys512Phe) | |
11 | g.68433834T>A | CA381614058 | LRP5 | c.3996T>A (p.Cys1332Ter) c.*2602T>A (n.*2602T>A) c.2253T>A (p.Cys751Ter) c.4023T>A (p.Cys1341Ter) n.4038T>A c.1536T>A (p.Cys512Ter) | |
11 | g.68433834T>C | CA475460884 | LRP5 | c.3996T>C (p.Cys1332=) c.*2602T>C (n.*2602T>C) c.2253T>C (p.Cys751=) c.4023T>C (p.Cys1341=) n.4038T>C c.1536T>C (p.Cys512=) | |
11 | g.68433834T>G | CA381614059 | LRP5 | c.3996T>G (p.Cys1332Trp) c.*2602T>G (n.*2602T>G) c.2253T>G (p.Cys751Trp) c.4023T>G (p.Cys1341Trp) n.4038T>G c.1536T>G (p.Cys512Trp) | |
11 | g.68433835G>A | CA381614060 | LRP5 | c.3997G>A (p.Asp1333Asn) c.*2603G>A (n.*2603G>A) c.2254G>A (p.Asp752Asn) c.4024G>A (p.Asp1342Asn) n.4039G>A c.1537G>A (p.Asp513Asn) | |
11 | g.68433835G>C | CA381614061 | LRP5 | c.3997G>C (p.Asp1333His) c.*2603G>C (n.*2603G>C) c.2254G>C (p.Asp752His) c.4024G>C (p.Asp1342His) n.4039G>C c.1537G>C (p.Asp513His) | gnomAD v4 |
11 | g.68433835G>T | CA381614062 | LRP5 | c.3997G>T (p.Asp1333Tyr) c.*2603G>T (n.*2603G>T) c.2254G>T (p.Asp752Tyr) c.4024G>T (p.Asp1342Tyr) n.4039G>T c.1537G>T (p.Asp513Tyr) | gnomAD v4 |
11 | g.68433836A>C | CA381614063 | LRP5 | c.3998A>C (p.Asp1333Ala) c.*2604A>C (n.*2604A>C) c.2255A>C (p.Asp752Ala) c.4025A>C (p.Asp1342Ala) n.4040A>C c.1538A>C (p.Asp513Ala) | |
11 | g.68433836A>G | CA381614064 | LRP5 | c.3998A>G (p.Asp1333Gly) c.*2604A>G (n.*2604A>G) c.2255A>G (p.Asp752Gly) c.4025A>G (p.Asp1342Gly) n.4040A>G c.1538A>G (p.Asp513Gly) | |
11 | g.68433836A>T | CA381614065 | LRP5 | c.3998A>T (p.Asp1333Val) c.*2604A>T (n.*2604A>T) c.2255A>T (p.Asp752Val) c.4025A>T (p.Asp1342Val) n.4040A>T c.1538A>T (p.Asp513Val) | |
11 | g.68433837C>A | CA381614067 | LRP5 | c.3999C>A (p.Asp1333Glu) c.*2605C>A (n.*2605C>A) c.2256C>A (p.Asp752Glu) c.4026C>A (p.Asp1342Glu) n.4041C>A c.1539C>A (p.Asp513Glu) | gnomAD v4 |
11 | g.68433837C= | CA1980622611 | LRP5 | c.3999C= (p.Asp1333=) c.*2605C= (n.*2605C=) c.2256C= (p.Asp752=) c.4026C= (p.Asp1342=) n.4041C= c.1539C= (p.Asp513=) | |
11 | g.68433837C>G | CA381614066 | LRP5 | c.3999C>G (p.Asp1333Glu) c.*2605C>G (n.*2605C>G) c.2256C>G (p.Asp752Glu) c.4026C>G (p.Asp1342Glu) n.4041C>G c.1539C>G (p.Asp513Glu) | |
11 | g.68433837C>T | CA6150181 | LRP5 | c.3999C>T (p.Asp1333=) c.*2605C>T (n.*2605C>T) c.2256C>T (p.Asp752=) c.4026C>T (p.Asp1342=) n.4041C>T c.1539C>T (p.Asp513=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433838G>A | CA6150182 | LRP5 | c.4000G>A (p.Ala1334Thr) c.*2606G>A (n.*2606G>A) c.2257G>A (p.Ala753Thr) c.4027G>A (p.Ala1343Thr) n.4042G>A c.1540G>A (p.Ala514Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433838G>C | CA381614068 | LRP5 | c.4000G>C (p.Ala1334Pro) c.*2606G>C (n.*2606G>C) c.2257G>C (p.Ala753Pro) c.4027G>C (p.Ala1343Pro) n.4042G>C c.1540G>C (p.Ala514Pro) | |
11 | g.68433838G= | CA1980622614 | LRP5 | c.4000G= (p.Ala1334=) c.*2606G= (n.*2606G=) c.2257G= (p.Ala753=) c.4027G= (p.Ala1343=) n.4042G= c.1540G= (p.Ala514=) | |
11 | g.68433838G>T | CA381614069 | LRP5 | c.4000G>T (p.Ala1334Ser) c.*2606G>T (n.*2606G>T) c.2257G>T (p.Ala753Ser) c.4027G>T (p.Ala1343Ser) n.4042G>T c.1540G>T (p.Ala514Ser) | gnomAD v4 COSMIC |
11 | g.68433838_68433839insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC | CA2724556268 | LRP5 | c.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4000_4000+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.*2606_*2606+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.2257_2257+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) c.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.4027_4027+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) n.4042_4042+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC c.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC (n.1540_1540+1insCCATCTGCCTGCCCAACCAGTTCCGGTGTGCGAGC) | dbSNP |
11 | g.68433839G>A | CA381614070 | LRP5 | c.4000+1G>A (n.4000+1G>A) c.*2606+1G>A (n.*2606+1G>A) c.2257+1G>A (n.2257+1G>A) c.4027+1G>A (n.4027+1G>A) n.4042+1G>A c.1540+1G>A (n.1540+1G>A) | |
11 | g.68433839G>C | CA381614071 | LRP5 | c.4000+1G>C (n.4000+1G>C) c.*2606+1G>C (n.*2606+1G>C) c.2257+1G>C (n.2257+1G>C) c.4027+1G>C (n.4027+1G>C) n.4042+1G>C c.1540+1G>C (n.1540+1G>C) | |
11 | g.68433839G= | CA1980622640 | LRP5 | c.4000+1G= (n.4000+1G=) c.*2606+1G= (n.*2606+1G=) c.2257+1G= (n.2257+1G=) c.4027+1G= (n.4027+1G=) n.4042+1G= c.1540+1G= (n.1540+1G=) | |
11 | g.68433839G>T | CA381614072 | LRP5 | c.4000+1G>T (n.4000+1G>T) c.*2606+1G>T (n.*2606+1G>T) c.2257+1G>T (n.2257+1G>T) c.4027+1G>T (n.4027+1G>T) n.4042+1G>T c.1540+1G>T (n.1540+1G>T) | ClinVar dbSNP |
11 | g.68433840T>A | CA381614073 | LRP5 | c.4000+2T>A (n.4000+2T>A) c.*2606+2T>A (n.*2606+2T>A) c.2257+2T>A (n.2257+2T>A) c.4027+2T>A (n.4027+2T>A) n.4042+2T>A c.1540+2T>A (n.1540+2T>A) | |
11 | g.68433840T>C | CA381614074 | LRP5 | c.4000+2T>C (n.4000+2T>C) c.*2606+2T>C (n.*2606+2T>C) c.2257+2T>C (n.2257+2T>C) c.4027+2T>C (n.4027+2T>C) n.4042+2T>C c.1540+2T>C (n.1540+2T>C) | |
11 | g.68433840T>G | CA381614075 | LRP5 | c.4000+2T>G (n.4000+2T>G) c.*2606+2T>G (n.*2606+2T>G) c.2257+2T>G (n.2257+2T>G) c.4027+2T>G (n.4027+2T>G) n.4042+2T>G c.1540+2T>G (n.1540+2T>G) | dbSNP gnomAD v4 |
11 | g.68433840T= | CA1980622643 | LRP5 | c.4000+2T= (n.4000+2T=) c.*2606+2T= (n.*2606+2T=) c.2257+2T= (n.2257+2T=) c.4027+2T= (n.4027+2T=) n.4042+2T= c.1540+2T= (n.1540+2T=) | |
11 | g.68433843G>C | CA2614715768 | LRP5 | c.4000+5G>C (n.4000+5G>C) c.*2606+5G>C (n.*2606+5G>C) c.2257+5G>C (n.2257+5G>C) c.4027+5G>C (n.4027+5G>C) n.4042+5G>C c.1540+5G>C (n.1540+5G>C) | gnomAD v4 |
11 | g.68433844G>T | CA2614715770 | LRP5 | c.4000+6G>T (n.4000+6G>T) c.*2606+6G>T (n.*2606+6G>T) c.2257+6G>T (n.2257+6G>T) c.4027+6G>T (n.4027+6G>T) n.4042+6G>T c.1540+6G>T (n.1540+6G>T) | gnomAD v4 |