Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68433727G>A | CA381613841 | LRP5 | c.3889G>A (p.Val1297Met) c.*2495G>A (n.*2495G>A) c.2146G>A (p.Val716Met) c.3916G>A (p.Val1306Met) n.3931G>A c.1429G>A (p.Val477Met) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433727G>C | CA381613839 | LRP5 | c.3889G>C (p.Val1297Leu) c.*2495G>C (n.*2495G>C) c.2146G>C (p.Val716Leu) c.3916G>C (p.Val1306Leu) n.3931G>C c.1429G>C (p.Val477Leu) | |
11 | g.68433727G= | CA1980622262 | LRP5 | c.3889G= (p.Val1297=) c.*2495G= (n.*2495G=) c.2146G= (p.Val716=) c.3916G= (p.Val1306=) n.3931G= c.1429G= (p.Val477=) | |
11 | g.68433727G>T | CA381613840 | LRP5 | c.3889G>T (p.Val1297Leu) c.*2495G>T (n.*2495G>T) c.2146G>T (p.Val716Leu) c.3916G>T (p.Val1306Leu) n.3931G>T c.1429G>T (p.Val477Leu) | |
11 | g.68433728T>A | CA381613842 | LRP5 | c.3890T>A (p.Val1297Glu) c.*2496T>A (n.*2496T>A) c.2147T>A (p.Val716Glu) c.3917T>A (p.Val1306Glu) n.3932T>A c.1430T>A (p.Val477Glu) | |
11 | g.68433728T>C | CA381613843 | LRP5 | c.3890T>C (p.Val1297Ala) c.*2496T>C (n.*2496T>C) c.2147T>C (p.Val716Ala) c.3917T>C (p.Val1306Ala) n.3932T>C c.1430T>C (p.Val477Ala) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68433728T>G | CA381613844 | LRP5 | c.3890T>G (p.Val1297Gly) c.*2496T>G (n.*2496T>G) c.2147T>G (p.Val716Gly) c.3917T>G (p.Val1306Gly) n.3932T>G c.1430T>G (p.Val477Gly) | |
11 | g.68433728T= | CA1980622265 | LRP5 | c.3890T= (p.Val1297=) c.*2496T= (n.*2496T=) c.2147T= (p.Val716=) c.3917T= (p.Val1306=) n.3932T= c.1430T= (p.Val477=) | |
11 | g.68433729G>A | CA475460781 | LRP5 | c.3891G>A (p.Val1297=) c.*2497G>A (n.*2497G>A) c.2148G>A (p.Val716=) c.3918G>A (p.Val1306=) n.3933G>A c.1431G>A (p.Val477=) | |
11 | g.68433729G>C | CA475460782 | LRP5 | c.3891G>C (p.Val1297=) c.*2497G>C (n.*2497G>C) c.2148G>C (p.Val716=) c.3918G>C (p.Val1306=) n.3933G>C c.1431G>C (p.Val477=) | |
11 | g.68433729G>T | CA475460783 | LRP5 | c.3891G>T (p.Val1297=) c.*2497G>T (n.*2497G>T) c.2148G>T (p.Val716=) c.3918G>T (p.Val1306=) n.3933G>T c.1431G>T (p.Val477=) | |
11 | g.68433730T>A | CA381613845 | LRP5 | c.3892T>A (p.Cys1298Ser) c.*2498T>A (n.*2498T>A) c.2149T>A (p.Cys717Ser) c.3919T>A (p.Cys1307Ser) n.3934T>A c.1432T>A (p.Cys478Ser) | |
11 | g.68433730T>C | CA381613846 | LRP5 | c.3892T>C (p.Cys1298Arg) c.*2498T>C (n.*2498T>C) c.2149T>C (p.Cys717Arg) c.3919T>C (p.Cys1307Arg) n.3934T>C c.1432T>C (p.Cys478Arg) | |
11 | g.68433730T>G | CA381613847 | LRP5 | c.3892T>G (p.Cys1298Gly) c.*2498T>G (n.*2498T>G) c.2149T>G (p.Cys717Gly) c.3919T>G (p.Cys1307Gly) n.3934T>G c.1432T>G (p.Cys478Gly) | |
11 | g.68433731G>A | CA381613848 | LRP5 | c.3893G>A (p.Cys1298Tyr) c.*2499G>A (n.*2499G>A) c.2150G>A (p.Cys717Tyr) c.3920G>A (p.Cys1307Tyr) n.3935G>A c.1433G>A (p.Cys478Tyr) | |
11 | g.68433731G>C | CA381613849 | LRP5 | c.3893G>C (p.Cys1298Ser) c.*2499G>C (n.*2499G>C) c.2150G>C (p.Cys717Ser) c.3920G>C (p.Cys1307Ser) n.3935G>C c.1433G>C (p.Cys478Ser) | |
11 | g.68433731G>T | CA381613850 | LRP5 | c.3893G>T (p.Cys1298Phe) c.*2499G>T (n.*2499G>T) c.2150G>T (p.Cys717Phe) c.3920G>T (p.Cys1307Phe) n.3935G>T c.1433G>T (p.Cys478Phe) | |
11 | g.68433732C>A | CA381613851 | LRP5 | c.3894C>A (p.Cys1298Ter) c.*2500C>A (n.*2500C>A) c.2151C>A (p.Cys717Ter) c.3921C>A (p.Cys1307Ter) n.3936C>A c.1434C>A (p.Cys478Ter) | |
11 | g.68433732C= | CA1980622269 | LRP5 | c.3894C= (p.Cys1298=) c.*2500C= (n.*2500C=) c.2151C= (p.Cys717=) c.3921C= (p.Cys1307=) n.3936C= c.1434C= (p.Cys478=) | |
11 | g.68433732C>G | CA381613852 | LRP5 | c.3894C>G (p.Cys1298Trp) c.*2500C>G (n.*2500C>G) c.2151C>G (p.Cys717Trp) c.3921C>G (p.Cys1307Trp) n.3936C>G c.1434C>G (p.Cys478Trp) | |
11 | g.68433732C>T | CA224250984 | LRP5 | c.3894C>T (p.Cys1298=) c.*2500C>T (n.*2500C>T) c.2151C>T (p.Cys717=) c.3921C>T (p.Cys1307=) n.3936C>T c.1434C>T (p.Cys478=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68433733T>A | CA381613855 | LRP5 | c.3895T>A (p.Ser1299Thr) c.*2501T>A (n.*2501T>A) c.2152T>A (p.Ser718Thr) c.3922T>A (p.Ser1308Thr) n.3937T>A c.1435T>A (p.Ser479Thr) | |
11 | g.68433733T>C | CA381613853 | LRP5 | c.3895T>C (p.Ser1299Pro) c.*2501T>C (n.*2501T>C) c.2152T>C (p.Ser718Pro) c.3922T>C (p.Ser1308Pro) n.3937T>C c.1435T>C (p.Ser479Pro) | dbSNP |
11 | g.68433733T>G | CA381613854 | LRP5 | c.3895T>G (p.Ser1299Ala) c.*2501T>G (n.*2501T>G) c.2152T>G (p.Ser718Ala) c.3922T>G (p.Ser1308Ala) n.3937T>G c.1435T>G (p.Ser479Ala) | |
11 | g.68433733T= | CA1980622275 | LRP5 | c.3895T= (p.Ser1299=) c.*2501T= (n.*2501T=) c.2152T= (p.Ser718=) c.3922T= (p.Ser1308=) n.3937T= c.1435T= (p.Ser479=) | |
11 | g.68433734C>A | CA381613856 | LRP5 | c.3896C>A (p.Ser1299Tyr) c.*2502C>A (n.*2502C>A) c.2153C>A (p.Ser718Tyr) c.3923C>A (p.Ser1308Tyr) n.3938C>A c.1436C>A (p.Ser479Tyr) | |
11 | g.68433734C>G | CA381613857 | LRP5 | c.3896C>G (p.Ser1299Cys) c.*2502C>G (n.*2502C>G) c.2153C>G (p.Ser718Cys) c.3923C>G (p.Ser1308Cys) n.3938C>G c.1436C>G (p.Ser479Cys) | |
11 | g.68433734C>T | CA381613858 | LRP5 | c.3896C>T (p.Ser1299Phe) c.*2502C>T (n.*2502C>T) c.2153C>T (p.Ser718Phe) c.3923C>T (p.Ser1308Phe) n.3938C>T c.1436C>T (p.Ser479Phe) | ClinVar gnomAD v4 |
11 | g.68433735C>A | CA475460784 | LRP5 | c.3897C>A (p.Ser1299=) c.*2503C>A (n.*2503C>A) c.2154C>A (p.Ser718=) c.3924C>A (p.Ser1308=) n.3939C>A c.1437C>A (p.Ser479=) | |
11 | g.68433735C= | CA1980622283 | LRP5 | c.3897C= (p.Ser1299=) c.*2503C= (n.*2503C=) c.2154C= (p.Ser718=) c.3924C= (p.Ser1308=) n.3939C= c.1437C= (p.Ser479=) | |
11 | g.68433735C>G | CA475460785 | LRP5 | c.3897C>G (p.Ser1299=) c.*2503C>G (n.*2503C>G) c.2154C>G (p.Ser718=) c.3924C>G (p.Ser1308=) n.3939C>G c.1437C>G (p.Ser479=) | |
11 | g.68433735C>T | CA6150144 | LRP5 | c.3897C>T (p.Ser1299=) c.*2503C>T (n.*2503C>T) c.2154C>T (p.Ser718=) c.3924C>T (p.Ser1308=) n.3939C>T c.1437C>T (p.Ser479=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433736G>A | CA6150145 | LRP5 | c.3898G>A (p.Ala1300Thr) c.*2504G>A (n.*2504G>A) c.2155G>A (p.Ala719Thr) c.3925G>A (p.Ala1309Thr) n.3940G>A c.1438G>A (p.Ala480Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68433736G>C | CA381613859 | LRP5 | c.3898G>C (p.Ala1300Pro) c.*2504G>C (n.*2504G>C) c.2155G>C (p.Ala719Pro) c.3925G>C (p.Ala1309Pro) n.3940G>C c.1438G>C (p.Ala480Pro) | |
11 | g.68433736G= | CA1980622290 | LRP5 | c.3898G= (p.Ala1300=) c.*2504G= (n.*2504G=) c.2155G= (p.Ala719=) c.3925G= (p.Ala1309=) n.3940G= c.1438G= (p.Ala480=) | |
11 | g.68433736G>T | CA381613860 | LRP5 | c.3898G>T (p.Ala1300Ser) c.*2504G>T (n.*2504G>T) c.2155G>T (p.Ala719Ser) c.3925G>T (p.Ala1309Ser) n.3940G>T c.1438G>T (p.Ala480Ser) | gnomAD v4 |
11 | g.68433737C>A | CA381613861 | LRP5 | c.3899C>A (p.Ala1300Asp) c.*2505C>A (n.*2505C>A) c.2156C>A (p.Ala719Asp) c.3926C>A (p.Ala1309Asp) n.3941C>A c.1439C>A (p.Ala480Asp) | |
11 | g.68433737C>G | CA381613862 | LRP5 | c.3899C>G (p.Ala1300Gly) c.*2505C>G (n.*2505C>G) c.2156C>G (p.Ala719Gly) c.3926C>G (p.Ala1309Gly) n.3941C>G c.1439C>G (p.Ala480Gly) | |
11 | g.68433737C>T | CA381613863 | LRP5 | c.3899C>T (p.Ala1300Val) c.*2505C>T (n.*2505C>T) c.2156C>T (p.Ala719Val) c.3926C>T (p.Ala1309Val) n.3941C>T c.1439C>T (p.Ala480Val) | |
11 | g.68433738C>A | CA475460786 | LRP5 | c.3900C>A (p.Ala1300=) c.*2506C>A (n.*2506C>A) c.2157C>A (p.Ala719=) c.3927C>A (p.Ala1309=) n.3942C>A c.1440C>A (p.Ala480=) | |
11 | g.68433738C= | CA1980622295 | LRP5 | c.3900C= (p.Ala1300=) c.*2506C= (n.*2506C=) c.2157C= (p.Ala719=) c.3927C= (p.Ala1309=) n.3942C= c.1440C= (p.Ala480=) | |
11 | g.68433738C>G | CA475460787 | LRP5 | c.3900C>G (p.Ala1300=) c.*2506C>G (n.*2506C>G) c.2157C>G (p.Ala719=) c.3927C>G (p.Ala1309=) n.3942C>G c.1440C>G (p.Ala480=) | gnomAD v4 |
11 | g.68433738C>T | CA6150146 | LRP5 | c.3900C>T (p.Ala1300=) c.*2506C>T (n.*2506C>T) c.2157C>T (p.Ala719=) c.3927C>T (p.Ala1309=) n.3942C>T c.1440C>T (p.Ala480=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433739G>A | CA6150147 | LRP5 | c.3901G>A (p.Ala1301Thr) c.*2507G>A (n.*2507G>A) c.2158G>A (p.Ala720Thr) c.3928G>A (p.Ala1310Thr) n.3943G>A c.1441G>A (p.Ala481Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68433739G>C | CA381613865 | LRP5 | c.3901G>C (p.Ala1301Pro) c.*2507G>C (n.*2507G>C) c.2158G>C (p.Ala720Pro) c.3928G>C (p.Ala1310Pro) n.3943G>C c.1441G>C (p.Ala481Pro) | |
11 | g.68433739G= | CA1980622302 | LRP5 | c.3901G= (p.Ala1301=) c.*2507G= (n.*2507G=) c.2158G= (p.Ala720=) c.3928G= (p.Ala1310=) n.3943G= c.1441G= (p.Ala481=) | |
11 | g.68433739G>T | CA381613864 | LRP5 | c.3901G>T (p.Ala1301Ser) c.*2507G>T (n.*2507G>T) c.2158G>T (p.Ala720Ser) c.3928G>T (p.Ala1310Ser) n.3943G>T c.1441G>T (p.Ala481Ser) | |
11 | g.68433740C>A | CA381613866 | LRP5 | c.3902C>A (p.Ala1301Asp) c.*2508C>A (n.*2508C>A) c.2159C>A (p.Ala720Asp) c.3929C>A (p.Ala1310Asp) n.3944C>A c.1442C>A (p.Ala481Asp) | |
11 | g.68433740C>G | CA381613867 | LRP5 | c.3902C>G (p.Ala1301Gly) c.*2508C>G (n.*2508C>G) c.2159C>G (p.Ala720Gly) c.3929C>G (p.Ala1310Gly) n.3944C>G c.1442C>G (p.Ala481Gly) | |
11 | g.68433740C>T | CA381613868 | LRP5 | c.3902C>T (p.Ala1301Val) c.*2508C>T (n.*2508C>T) c.2159C>T (p.Ala720Val) c.3929C>T (p.Ala1310Val) n.3944C>T c.1442C>T (p.Ala481Val) | ClinVar dbSNP gnomAD v4 |