Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68433606_68433657dup | CA599954291 | LRP5 | c.3768_3819dup (p.Ile1274AlafsTer25) c.*2374_*2425dup (n.*2374_*2425dup) c.2025_2076dup (p.Ile693AlafsTer25) c.3795_3846dup (p.Ile1283AlafsTer25) n.3810_3861dup c.1308_1359dup (p.Ile454AlafsTer25) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433628T>A | CA381613622 | LRP5 | c.3790T>A (p.Phe1264Ile) c.*2396T>A (n.*2396T>A) c.2047T>A (p.Phe683Ile) c.3817T>A (p.Phe1273Ile) n.3832T>A c.1330T>A (p.Phe444Ile) | |
11 | g.68433628T>C | CA381613623 | LRP5 | c.3790T>C (p.Phe1264Leu) c.*2396T>C (n.*2396T>C) c.2047T>C (p.Phe683Leu) c.3817T>C (p.Phe1273Leu) n.3832T>C c.1330T>C (p.Phe444Leu) | |
11 | g.68433628T>G | CA381613624 | LRP5 | c.3790T>G (p.Phe1264Val) c.*2396T>G (n.*2396T>G) c.2047T>G (p.Phe683Val) c.3817T>G (p.Phe1273Val) n.3832T>G c.1330T>G (p.Phe444Val) | |
11 | g.68433629T>A | CA381613625 | LRP5 | c.3791T>A (p.Phe1264Tyr) c.*2397T>A (n.*2397T>A) c.2048T>A (p.Phe683Tyr) c.3818T>A (p.Phe1273Tyr) n.3833T>A c.1331T>A (p.Phe444Tyr) | |
11 | g.68433629T>C | CA381613626 | LRP5 | c.3791T>C (p.Phe1264Ser) c.*2397T>C (n.*2397T>C) c.2048T>C (p.Phe683Ser) c.3818T>C (p.Phe1273Ser) n.3833T>C c.1331T>C (p.Phe444Ser) | gnomAD v4 |
11 | g.68433629T>G | CA381613627 | LRP5 | c.3791T>G (p.Phe1264Cys) c.*2397T>G (n.*2397T>G) c.2048T>G (p.Phe683Cys) c.3818T>G (p.Phe1273Cys) n.3833T>G c.1331T>G (p.Phe444Cys) | |
11 | g.68433630T>A | CA381613628 | LRP5 | c.3792T>A (p.Phe1264Leu) c.*2398T>A (n.*2398T>A) c.2049T>A (p.Phe683Leu) c.3819T>A (p.Phe1273Leu) n.3834T>A c.1332T>A (p.Phe444Leu) | COSMIC |
11 | g.68433630T>C | CA475460630 | LRP5 | c.3792T>C (p.Phe1264=) c.*2398T>C (n.*2398T>C) c.2049T>C (p.Phe683=) c.3819T>C (p.Phe1273=) n.3834T>C c.1332T>C (p.Phe444=) | |
11 | g.68433630T>G | CA381613629 | LRP5 | c.3792T>G (p.Phe1264Leu) c.*2398T>G (n.*2398T>G) c.2049T>G (p.Phe683Leu) c.3819T>G (p.Phe1273Leu) n.3834T>G c.1332T>G (p.Phe444Leu) | |
11 | g.68433631G>A | CA381613631 | LRP5 | c.3793G>A (p.Ala1265Thr) c.*2399G>A (n.*2399G>A) c.2050G>A (p.Ala684Thr) c.3820G>A (p.Ala1274Thr) n.3835G>A c.1333G>A (p.Ala445Thr) | gnomAD v4 |
11 | g.68433631G>C | CA6150119 | LRP5 | c.3793G>C (p.Ala1265Pro) c.*2399G>C (n.*2399G>C) c.2050G>C (p.Ala684Pro) c.3820G>C (p.Ala1274Pro) n.3835G>C c.1333G>C (p.Ala445Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433631G= | CA1980621994 | LRP5 | c.3793G= (p.Ala1265=) c.*2399G= (n.*2399G=) c.2050G= (p.Ala684=) c.3820G= (p.Ala1274=) n.3835G= c.1333G= (p.Ala445=) | |
11 | g.68433631G>T | CA381613630 | LRP5 | c.3793G>T (p.Ala1265Ser) c.*2399G>T (n.*2399G>T) c.2050G>T (p.Ala684Ser) c.3820G>T (p.Ala1274Ser) n.3835G>T c.1333G>T (p.Ala445Ser) | dbSNP gnomAD v4 |
11 | g.68433632C>A | CA381613632 | LRP5 | c.3794C>A (p.Ala1265Glu) c.*2400C>A (n.*2400C>A) c.2051C>A (p.Ala684Glu) c.3821C>A (p.Ala1274Glu) n.3836C>A c.1334C>A (p.Ala445Glu) | |
11 | g.68433632C= | CA1980622006 | LRP5 | c.3794C= (p.Ala1265=) c.*2400C= (n.*2400C=) c.2051C= (p.Ala684=) c.3821C= (p.Ala1274=) n.3836C= c.1334C= (p.Ala445=) | |
11 | g.68433632C>G | CA381613633 | LRP5 | c.3794C>G (p.Ala1265Gly) c.*2400C>G (n.*2400C>G) c.2051C>G (p.Ala684Gly) c.3821C>G (p.Ala1274Gly) n.3836C>G c.1334C>G (p.Ala445Gly) | |
11 | g.68433632C>T | CA224250755 | LRP5 | c.3794C>T (p.Ala1265Val) c.*2400C>T (n.*2400C>T) c.2051C>T (p.Ala684Val) c.3821C>T (p.Ala1274Val) n.3836C>T c.1334C>T (p.Ala445Val) | dbSNP gnomAD v4 |
11 | g.68433633A= | CA1980622009 | LRP5 | c.3795A= (p.Ala1265=) c.*2401A= (n.*2401A=) c.2052A= (p.Ala684=) c.3822A= (p.Ala1274=) n.3837A= c.1335A= (p.Ala445=) | |
11 | g.68433633A>C | CA475460634 | LRP5 | c.3795A>C (p.Ala1265=) c.*2401A>C (n.*2401A>C) c.2052A>C (p.Ala684=) c.3822A>C (p.Ala1274=) n.3837A>C c.1335A>C (p.Ala445=) | |
11 | g.68433633A>G | CA475460635 | LRP5 | c.3795A>G (p.Ala1265=) c.*2401A>G (n.*2401A>G) c.2052A>G (p.Ala684=) c.3822A>G (p.Ala1274=) n.3837A>G c.1335A>G (p.Ala445=) | ClinVar dbSNP |
11 | g.68433633A>T | CA475460637 | LRP5 | c.3795A>T (p.Ala1265=) c.*2401A>T (n.*2401A>T) c.2052A>T (p.Ala684=) c.3822A>T (p.Ala1274=) n.3837A>T c.1335A>T (p.Ala445=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433634T>A | CA381613634 | LRP5 | c.3796T>A (p.Cys1266Ser) c.*2402T>A (n.*2402T>A) c.2053T>A (p.Cys685Ser) c.3823T>A (p.Cys1275Ser) n.3838T>A c.1336T>A (p.Cys446Ser) | |
11 | g.68433634T>C | CA381613635 | LRP5 | c.3796T>C (p.Cys1266Arg) c.*2402T>C (n.*2402T>C) c.2053T>C (p.Cys685Arg) c.3823T>C (p.Cys1275Arg) n.3838T>C c.1336T>C (p.Cys446Arg) | |
11 | g.68433634T>G | CA381613636 | LRP5 | c.3796T>G (p.Cys1266Gly) c.*2402T>G (n.*2402T>G) c.2053T>G (p.Cys685Gly) c.3823T>G (p.Cys1275Gly) n.3838T>G c.1336T>G (p.Cys446Gly) | |
11 | g.68433635G>A | CA381613637 | LRP5 | c.3797G>A (p.Cys1266Tyr) c.*2403G>A (n.*2403G>A) c.2054G>A (p.Cys685Tyr) c.3824G>A (p.Cys1275Tyr) n.3839G>A c.1337G>A (p.Cys446Tyr) | |
11 | g.68433635G>C | CA381613638 | LRP5 | c.3797G>C (p.Cys1266Ser) c.*2403G>C (n.*2403G>C) c.2054G>C (p.Cys685Ser) c.3824G>C (p.Cys1275Ser) n.3839G>C c.1337G>C (p.Cys446Ser) | |
11 | g.68433635G>T | CA381613639 | LRP5 | c.3797G>T (p.Cys1266Phe) c.*2403G>T (n.*2403G>T) c.2054G>T (p.Cys685Phe) c.3824G>T (p.Cys1275Phe) n.3839G>T c.1337G>T (p.Cys446Phe) | |
11 | g.68433636T>A | CA381613640 | LRP5 | c.3798T>A (p.Cys1266Ter) c.*2404T>A (n.*2404T>A) c.2055T>A (p.Cys685Ter) c.3825T>A (p.Cys1275Ter) n.3840T>A c.1338T>A (p.Cys446Ter) | |
11 | g.68433636T>C | CA475460638 | LRP5 | c.3798T>C (p.Cys1266=) c.*2404T>C (n.*2404T>C) c.2055T>C (p.Cys685=) c.3825T>C (p.Cys1275=) n.3840T>C c.1338T>C (p.Cys446=) | |
11 | g.68433636T>G | CA381613641 | LRP5 | c.3798T>G (p.Cys1266Trp) c.*2404T>G (n.*2404T>G) c.2055T>G (p.Cys685Trp) c.3825T>G (p.Cys1275Trp) n.3840T>G c.1338T>G (p.Cys446Trp) | |
11 | g.68433637G>A | CA381613642 | LRP5 | c.3799G>A (p.Ala1267Thr) c.*2405G>A (n.*2405G>A) c.2056G>A (p.Ala686Thr) c.3826G>A (p.Ala1276Thr) n.3841G>A c.1339G>A (p.Ala447Thr) | |
11 | g.68433637G>C | CA381613643 | LRP5 | c.3799G>C (p.Ala1267Pro) c.*2405G>C (n.*2405G>C) c.2056G>C (p.Ala686Pro) c.3826G>C (p.Ala1276Pro) n.3841G>C c.1339G>C (p.Ala447Pro) | |
11 | g.68433637G>T | CA381613644 | LRP5 | c.3799G>T (p.Ala1267Ser) c.*2405G>T (n.*2405G>T) c.2056G>T (p.Ala686Ser) c.3826G>T (p.Ala1276Ser) n.3841G>T c.1339G>T (p.Ala447Ser) | |
11 | g.68433638C>A | CA381613646 | LRP5 | c.3800C>A (p.Ala1267Asp) c.*2406C>A (n.*2406C>A) c.2057C>A (p.Ala686Asp) c.3827C>A (p.Ala1276Asp) n.3842C>A c.1340C>A (p.Ala447Asp) | |
11 | g.68433638C>G | CA381613647 | LRP5 | c.3800C>G (p.Ala1267Gly) c.*2406C>G (n.*2406C>G) c.2057C>G (p.Ala686Gly) c.3827C>G (p.Ala1276Gly) n.3842C>G c.1340C>G (p.Ala447Gly) | gnomAD v4 |
11 | g.68433638C>T | CA381613645 | LRP5 | c.3800C>T (p.Ala1267Val) c.*2406C>T (n.*2406C>T) c.2057C>T (p.Ala686Val) c.3827C>T (p.Ala1276Val) n.3842C>T c.1340C>T (p.Ala447Val) | |
11 | g.68433639C>A | CA475460641 | LRP5 | c.3801C>A (p.Ala1267=) c.*2407C>A (n.*2407C>A) c.2058C>A (p.Ala686=) c.3828C>A (p.Ala1276=) n.3843C>A c.1341C>A (p.Ala447=) | |
11 | g.68433639C>G | CA475460642 | LRP5 | c.3801C>G (p.Ala1267=) c.*2407C>G (n.*2407C>G) c.2058C>G (p.Ala686=) c.3828C>G (p.Ala1276=) n.3843C>G c.1341C>G (p.Ala447=) | |
11 | g.68433639C>T | CA475460643 | LRP5 | c.3801C>T (p.Ala1267=) c.*2407C>T (n.*2407C>T) c.2058C>T (p.Ala686=) c.3828C>T (p.Ala1276=) n.3843C>T c.1341C>T (p.Ala447=) | |
11 | g.68433640A>C | CA381613648 | LRP5 | c.3802A>C (p.Thr1268Pro) c.*2408A>C (n.*2408A>C) c.2059A>C (p.Thr687Pro) c.3829A>C (p.Thr1277Pro) n.3844A>C c.1342A>C (p.Thr448Pro) | |
11 | g.68433640A>G | CA381613649 | LRP5 | c.3802A>G (p.Thr1268Ala) c.*2408A>G (n.*2408A>G) c.2059A>G (p.Thr687Ala) c.3829A>G (p.Thr1277Ala) n.3844A>G c.1342A>G (p.Thr448Ala) | |
11 | g.68433640A>T | CA381613650 | LRP5 | c.3802A>T (p.Thr1268Ser) c.*2408A>T (n.*2408A>T) c.2059A>T (p.Thr687Ser) c.3829A>T (p.Thr1277Ser) n.3844A>T c.1342A>T (p.Thr448Ser) | |
11 | g.68433641C>A | CA381613651 | LRP5 | c.3803C>A (p.Thr1268Lys) c.*2409C>A (n.*2409C>A) c.2060C>A (p.Thr687Lys) c.3830C>A (p.Thr1277Lys) n.3845C>A c.1343C>A (p.Thr448Lys) | |
11 | g.68433641C= | CA1980622015 | LRP5 | c.3803C= (p.Thr1268=) c.*2409C= (n.*2409C=) c.2060C= (p.Thr687=) c.3830C= (p.Thr1277=) n.3845C= c.1343C= (p.Thr448=) | |
11 | g.68433641C>G | CA381613652 | LRP5 | c.3803C>G (p.Thr1268Arg) c.*2409C>G (n.*2409C>G) c.2060C>G (p.Thr687Arg) c.3830C>G (p.Thr1277Arg) n.3845C>G c.1343C>G (p.Thr448Arg) | dbSNP |
11 | g.68433641C>T | CA381613653 | LRP5 | c.3803C>T (p.Thr1268Ile) c.*2409C>T (n.*2409C>T) c.2060C>T (p.Thr687Ile) c.3830C>T (p.Thr1277Ile) n.3845C>T c.1343C>T (p.Thr448Ile) | |
11 | g.68433641_68433642delinsCA | CA1980622012 | LRP5 | c.3803_3804delinsCA (p.Thr1268=) c.*2409_*2410delinsCA (n.*2409_*2410delinsCA) c.2060_2061delinsCA (p.Thr687=) c.3830_3831delinsCA (p.Thr1277=) n.3845_3846delinsCA c.1343_1344delinsCA (p.Thr448=) | |
11 | g.68433642del | CA224250766 | LRP5 | c.3804del (p.Glu1270ArgfsTer?) c.*2410del (n.*2410del) c.2061del (p.Glu689ArgfsTer?) c.3831del (p.Glu1279ArgfsTer?) n.3846del c.1344del (p.Glu450ArgfsTer?) | ClinVar dbSNP |
11 | g.68433642A= | CA1980622017 | LRP5 | c.3804A= (p.Thr1268=) c.*2410A= (n.*2410A=) c.2061A= (p.Thr687=) c.3831A= (p.Thr1277=) n.3846A= c.1344A= (p.Thr448=) |