Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.68433727G>ACA381613841LRP5c.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
11g.68433727G>CCA381613839LRP5c.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)
11g.68433727G=CA1980622262LRP5c.3889G= (p.Val1297=)
c.*2495G= (n.*2495G=)
c.2146G= (p.Val716=)
c.3916G= (p.Val1306=)
n.3931G=
c.1429G= (p.Val477=)
11g.68433727G>TCA381613840LRP5c.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)
11g.68433728T>ACA381613842LRP5c.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)
11g.68433728T>CCA381613843LRP5c.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
11g.68433728T>GCA381613844LRP5c.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)
11g.68433728T=CA1980622265LRP5c.3890T= (p.Val1297=)
c.*2496T= (n.*2496T=)
c.2147T= (p.Val716=)
c.3917T= (p.Val1306=)
n.3932T=
c.1430T= (p.Val477=)
11g.68433729G>ACA475460781LRP5c.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=)
11g.68433729G>CCA475460782LRP5c.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=)
11g.68433729G>TCA475460783LRP5c.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=)
11g.68433730T>ACA381613845LRP5c.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)
11g.68433730T>CCA381613846LRP5c.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)
11g.68433730T>GCA381613847LRP5c.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)
11g.68433731G>ACA381613848LRP5c.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)
11g.68433731G>CCA381613849LRP5c.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)
11g.68433731G>TCA381613850LRP5c.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)
11g.68433732C>ACA381613851LRP5c.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)
11g.68433732C=CA1980622269LRP5c.3894C= (p.Cys1298=)
c.*2500C= (n.*2500C=)
c.2151C= (p.Cys717=)
c.3921C= (p.Cys1307=)
n.3936C=
c.1434C= (p.Cys478=)
11g.68433732C>GCA381613852LRP5c.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)
11g.68433732C>TCA224250984LRP5c.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
11g.68433733T>ACA381613855LRP5c.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)
11g.68433733T>CCA381613853LRP5c.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
11g.68433733T>GCA381613854LRP5c.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)
11g.68433733T=CA1980622275LRP5c.3895T= (p.Ser1299=)
c.*2501T= (n.*2501T=)
c.2152T= (p.Ser718=)
c.3922T= (p.Ser1308=)
n.3937T=
c.1435T= (p.Ser479=)
11g.68433734C>ACA381613856LRP5c.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)
11g.68433734C>GCA381613857LRP5c.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)
11g.68433734C>TCA381613858LRP5c.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
11g.68433735C>ACA475460784LRP5c.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=)
11g.68433735C=CA1980622283LRP5c.3897C= (p.Ser1299=)
c.*2503C= (n.*2503C=)
c.2154C= (p.Ser718=)
c.3924C= (p.Ser1308=)
n.3939C=
c.1437C= (p.Ser479=)
11g.68433735C>GCA475460785LRP5c.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=)
11g.68433735C>TCA6150144LRP5c.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
11g.68433736G>ACA6150145LRP5c.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
11g.68433736G>CCA381613859LRP5c.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)
11g.68433736G=CA1980622290LRP5c.3898G= (p.Ala1300=)
c.*2504G= (n.*2504G=)
c.2155G= (p.Ala719=)
c.3925G= (p.Ala1309=)
n.3940G=
c.1438G= (p.Ala480=)
11g.68433736G>TCA381613860LRP5c.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
11g.68433737C>ACA381613861LRP5c.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)
11g.68433737C>GCA381613862LRP5c.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)
11g.68433737C>TCA381613863LRP5c.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)
11g.68433738C>ACA475460786LRP5c.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=)
11g.68433738C=CA1980622295LRP5c.3900C= (p.Ala1300=)
c.*2506C= (n.*2506C=)
c.2157C= (p.Ala719=)
c.3927C= (p.Ala1309=)
n.3942C=
c.1440C= (p.Ala480=)
11g.68433738C>GCA475460787LRP5c.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
11g.68433738C>TCA6150146LRP5c.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
11g.68433739G>ACA6150147LRP5c.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
11g.68433739G>CCA381613865LRP5c.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)
11g.68433739G=CA1980622302LRP5c.3901G= (p.Ala1301=)
c.*2507G= (n.*2507G=)
c.2158G= (p.Ala720=)
c.3928G= (p.Ala1310=)
n.3943G=
c.1441G= (p.Ala481=)
11g.68433739G>TCA381613864LRP5c.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)
11g.68433740C>ACA381613866LRP5c.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)
11g.68433740C>GCA381613867LRP5c.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)
11g.68433740C>TCA381613868LRP5c.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

Number of alleles fetched