| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68446434A= | CA1980664393 | LRP5 | c.4489-2A= (n.4489-2A=) c.159-2A= c.*3095-2A= (n.*3095-2A=) c.2746-2A= (n.2746-2A=) c.4603-2A= (n.4603-2A=) c.4630-2A= (n.4630-2A=) c.4516-2A= (n.4516-2A=) c.4646-2A= (n.4646-2A=) n.4645-2A= n.4661-2A= c.2860-2A= (n.2860-2A=) c.2143-2A= (n.2143-2A=) | |
| 11 | g.68446434A>C | CA381616750 | LRP5 | c.4489-2A>C (n.4489-2A>C) c.159-2A>C c.*3095-2A>C (n.*3095-2A>C) c.2746-2A>C (n.2746-2A>C) c.4603-2A>C (n.4603-2A>C) c.4630-2A>C (n.4630-2A>C) c.4516-2A>C (n.4516-2A>C) c.4646-2A>C (n.4646-2A>C) n.4645-2A>C n.4661-2A>C c.2860-2A>C (n.2860-2A>C) c.2143-2A>C (n.2143-2A>C) | |
| 11 | g.68446434A>G | CA16044354 | LRP5 | c.4489-2A>G (n.4489-2A>G) c.159-2A>G c.*3095-2A>G (n.*3095-2A>G) c.2746-2A>G (n.2746-2A>G) c.4603-2A>G (n.4603-2A>G) c.4630-2A>G (n.4630-2A>G) c.4516-2A>G (n.4516-2A>G) c.4646-2A>G (n.4646-2A>G) n.4645-2A>G n.4661-2A>G c.2860-2A>G (n.2860-2A>G) c.2143-2A>G (n.2143-2A>G) | ClinVar dbSNP |
| 11 | g.68446434A>T | CA381616751 | LRP5 | c.4489-2A>T (n.4489-2A>T) c.159-2A>T c.*3095-2A>T (n.*3095-2A>T) c.2746-2A>T (n.2746-2A>T) c.4603-2A>T (n.4603-2A>T) c.4630-2A>T (n.4630-2A>T) c.4516-2A>T (n.4516-2A>T) c.4646-2A>T (n.4646-2A>T) n.4645-2A>T n.4661-2A>T c.2860-2A>T (n.2860-2A>T) c.2143-2A>T (n.2143-2A>T) | |
| 11 | g.68446435G>A | CA381616752 | LRP5 | c.4489-1G>A (n.4489-1G>A) c.159-1G>A c.*3095-1G>A (n.*3095-1G>A) c.2746-1G>A (n.2746-1G>A) c.4603-1G>A (n.4603-1G>A) c.4630-1G>A (n.4630-1G>A) c.4516-1G>A (n.4516-1G>A) c.4646-1G>A (n.4646-1G>A) n.4645-1G>A n.4661-1G>A c.2860-1G>A (n.2860-1G>A) c.2143-1G>A (n.2143-1G>A) | |
| 11 | g.68446435G>C | CA381616753 | LRP5 | c.4489-1G>C (n.4489-1G>C) c.159-1G>C c.*3095-1G>C (n.*3095-1G>C) c.2746-1G>C (n.2746-1G>C) c.4603-1G>C (n.4603-1G>C) c.4630-1G>C (n.4630-1G>C) c.4516-1G>C (n.4516-1G>C) c.4646-1G>C (n.4646-1G>C) n.4645-1G>C n.4661-1G>C c.2860-1G>C (n.2860-1G>C) c.2143-1G>C (n.2143-1G>C) | |
| 11 | g.68446435G>T | CA381616754 | LRP5 | c.4489-1G>T (n.4489-1G>T) c.159-1G>T c.*3095-1G>T (n.*3095-1G>T) c.2746-1G>T (n.2746-1G>T) c.4603-1G>T (n.4603-1G>T) c.4630-1G>T (n.4630-1G>T) c.4516-1G>T (n.4516-1G>T) c.4646-1G>T (n.4646-1G>T) n.4645-1G>T n.4661-1G>T c.2860-1G>T (n.2860-1G>T) c.2143-1G>T (n.2143-1G>T) | |
| 11 | g.68446436A>C | CA381616755 | LRP5 | c.4489A>C (p.Ile1497Leu) c.159A>C c.*3095A>C (n.*3095A>C) c.2746A>C (p.Ile916Leu) c.4603A>C (p.Ile1535Leu) c.4630A>C (p.Ile1544Leu) c.4516A>C (p.Ile1506Leu) c.4646A>C (p.Asp1549Ala) n.4645A>C n.4661A>C c.2860A>C (p.Ile954Leu) c.2143A>C (p.Ile715Leu) | |
| 11 | g.68446436A>G | CA381616756 | LRP5 | c.4489A>G (p.Ile1497Val) c.159A>G c.*3095A>G (n.*3095A>G) c.2746A>G (p.Ile916Val) c.4603A>G (p.Ile1535Val) c.4630A>G (p.Ile1544Val) c.4516A>G (p.Ile1506Val) c.4646A>G (p.Asp1549Gly) n.4645A>G n.4661A>G c.2860A>G (p.Ile954Val) c.2143A>G (p.Ile715Val) | |
| 11 | g.68446436A>T | CA381616757 | LRP5 | c.4489A>T (p.Ile1497Phe) c.159A>T c.*3095A>T (n.*3095A>T) c.2746A>T (p.Ile916Phe) c.4603A>T (p.Ile1535Phe) c.4630A>T (p.Ile1544Phe) c.4516A>T (p.Ile1506Phe) c.4646A>T (p.Asp1549Val) n.4645A>T n.4661A>T c.2860A>T (p.Ile954Phe) c.2143A>T (p.Ile715Phe) | |
| 11 | g.68446437T>A | CA381616758 | LRP5 | c.4490T>A (p.Ile1497Asn) c.160T>A c.*3096T>A (n.*3096T>A) c.2747T>A (p.Ile916Asn) c.4604T>A (p.Ile1535Asn) c.4631T>A (p.Ile1544Asn) c.4517T>A (p.Ile1506Asn) c.4647T>A (p.Asp1549Glu) n.4646T>A n.4662T>A c.2861T>A (p.Ile954Asn) c.2144T>A (p.Ile715Asn) | |
| 11 | g.68446437T>C | CA381616759 | LRP5 | c.4490T>C (p.Ile1497Thr) c.160T>C c.*3096T>C (n.*3096T>C) c.2747T>C (p.Ile916Thr) c.4604T>C (p.Ile1535Thr) c.4631T>C (p.Ile1544Thr) c.4517T>C (p.Ile1506Thr) c.4647T>C (p.Asp1549=) n.4646T>C n.4662T>C c.2861T>C (p.Ile954Thr) c.2144T>C (p.Ile715Thr) | |
| 11 | g.68446437T>G | CA381616760 | LRP5 | c.4490T>G (p.Ile1497Ser) c.160T>G c.*3096T>G (n.*3096T>G) c.2747T>G (p.Ile916Ser) c.4604T>G (p.Ile1535Ser) c.4631T>G (p.Ile1544Ser) c.4517T>G (p.Ile1506Ser) c.4647T>G (p.Asp1549Glu) n.4646T>G n.4662T>G c.2861T>G (p.Ile954Ser) c.2144T>G (p.Ile715Ser) | |
| 11 | g.68446438C>A | CA475462219 | LRP5 | c.4491C>A (p.Ile1497=) c.161C>A c.*3097C>A (n.*3097C>A) c.2748C>A (p.Ile916=) c.4605C>A (p.Ile1535=) c.4632C>A (p.Ile1544=) c.4518C>A (p.Ile1506=) c.4648C>A (p.Pro1550Thr) n.4647C>A n.4663C>A c.2862C>A (p.Ile954=) c.2145C>A (p.Ile715=) | |
| 11 | g.68446438C= | CA1980664401 | LRP5 | c.4491C= (p.Ile1497=) c.161C= c.*3097C= (n.*3097C=) c.2748C= (p.Ile916=) c.4605C= (p.Ile1535=) c.4632C= (p.Ile1544=) c.4518C= (p.Ile1506=) c.4648C= (p.Pro1550=) n.4647C= n.4663C= c.2862C= (p.Ile954=) c.2145C= (p.Ile715=) | |
| 11 | g.68446438C>G | CA381616761 | LRP5 | c.4491C>G (p.Ile1497Met) c.161C>G c.*3097C>G (n.*3097C>G) c.2748C>G (p.Ile916Met) c.4605C>G (p.Ile1535Met) c.4632C>G (p.Ile1544Met) c.4518C>G (p.Ile1506Met) c.4648C>G (p.Pro1550Ala) n.4647C>G n.4663C>G c.2862C>G (p.Ile954Met) c.2145C>G (p.Ile715Met) | |
| 11 | g.68446438C>T | CA475462220 | LRP5 | c.4491C>T (p.Ile1497=) c.161C>T c.*3097C>T (n.*3097C>T) c.2748C>T (p.Ile916=) c.4605C>T (p.Ile1535=) c.4632C>T (p.Ile1544=) c.4518C>T (p.Ile1506=) c.4648C>T (p.Pro1550Ser) n.4647C>T n.4663C>T c.2862C>T (p.Ile954=) c.2145C>T (p.Ile715=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68446439C>A | CA381616764 | LRP5 | c.4492C>A (p.Leu1498Met) c.162C>A c.*3098C>A (n.*3098C>A) c.2749C>A (p.Leu917Met) c.4606C>A (p.Leu1536Met) c.4633C>A (p.Leu1545Met) c.4519C>A (p.Leu1507Met) c.4649C>A (p.Pro1550His) n.4648C>A n.4664C>A c.2863C>A (p.Leu955Met) c.2146C>A (p.Leu716Met) | |
| 11 | g.68446439C>G | CA381616762 | LRP5 | c.4492C>G (p.Leu1498Val) c.162C>G c.*3098C>G (n.*3098C>G) c.2749C>G (p.Leu917Val) c.4606C>G (p.Leu1536Val) c.4633C>G (p.Leu1545Val) c.4519C>G (p.Leu1507Val) c.4649C>G (p.Pro1550Arg) n.4648C>G n.4664C>G c.2863C>G (p.Leu955Val) c.2146C>G (p.Leu716Val) | |
| 11 | g.68446439C>T | CA475462221 | LRP5 | c.4492C>T (p.Leu1498=) c.162C>T c.*3098C>T (n.*3098C>T) c.2749C>T (p.Leu917=) c.4606C>T (p.Leu1536=) c.4633C>T (p.Leu1545=) c.4519C>T (p.Leu1507=) c.4649C>T (p.Pro1550Leu) n.4648C>T n.4664C>T c.2863C>T (p.Leu955=) c.2146C>T (p.Leu716=) | |
| 11 | g.68446440T>A | CA381616767 | LRP5 | c.4493T>A (p.Leu1498Gln) c.163T>A c.*3099T>A (n.*3099T>A) c.2750T>A (p.Leu917Gln) c.4607T>A (p.Leu1536Gln) c.4634T>A (p.Leu1545Gln) c.4520T>A (p.Leu1507Gln) c.4650T>A (p.Pro1550=) n.4649T>A n.4665T>A c.2864T>A (p.Leu955Gln) c.2147T>A (p.Leu716Gln) | |
| 11 | g.68446440T>C | CA381616770 | LRP5 | c.4493T>C (p.Leu1498Pro) c.163T>C c.*3099T>C (n.*3099T>C) c.2750T>C (p.Leu917Pro) c.4607T>C (p.Leu1536Pro) c.4634T>C (p.Leu1545Pro) c.4520T>C (p.Leu1507Pro) c.4650T>C (p.Pro1550=) n.4649T>C n.4665T>C c.2864T>C (p.Leu955Pro) c.2147T>C (p.Leu716Pro) | |
| 11 | g.68446440T>G | CA381616768 | LRP5 | c.4493T>G (p.Leu1498Arg) c.163T>G c.*3099T>G (n.*3099T>G) c.2750T>G (p.Leu917Arg) c.4607T>G (p.Leu1536Arg) c.4634T>G (p.Leu1545Arg) c.4520T>G (p.Leu1507Arg) c.4650T>G (p.Pro1550=) n.4649T>G n.4665T>G c.2864T>G (p.Leu955Arg) c.2147T>G (p.Leu716Arg) | |
| 11 | g.68446441G>A | CA475462223 | LRP5 | c.4494G>A (p.Leu1498=) c.164G>A c.*3100G>A (n.*3100G>A) c.2751G>A (p.Leu917=) c.4608G>A (p.Leu1536=) c.4635G>A (p.Leu1545=) c.4521G>A (p.Leu1507=) c.4651G>A (p.Glu1551Lys) n.4650G>A n.4666G>A c.2865G>A (p.Leu955=) c.2148G>A (p.Leu716=) | |
| 11 | g.68446441G>C | CA475462225 | LRP5 | c.4494G>C (p.Leu1498=) c.164G>C c.*3100G>C (n.*3100G>C) c.2751G>C (p.Leu917=) c.4608G>C (p.Leu1536=) c.4635G>C (p.Leu1545=) c.4521G>C (p.Leu1507=) c.4651G>C (p.Glu1551Gln) n.4650G>C n.4666G>C c.2865G>C (p.Leu955=) c.2148G>C (p.Leu716=) | |
| 11 | g.68446441G>T | CA475462224 | LRP5 | c.4494G>T (p.Leu1498=) c.164G>T c.*3100G>T (n.*3100G>T) c.2751G>T (p.Leu917=) c.4608G>T (p.Leu1536=) c.4635G>T (p.Leu1545=) c.4521G>T (p.Leu1507=) c.4651G>T (p.Glu1551Ter) n.4650G>T n.4666G>T c.2865G>T (p.Leu955=) c.2148G>T (p.Leu716=) | |
| 11 | g.68446442A>C | CA381616773 | LRP5 | c.4495A>C (p.Asn1499His) c.165A>C c.*3101A>C (n.*3101A>C) c.2752A>C (p.Asn918His) c.4609A>C (p.Asn1537His) c.4636A>C (p.Asn1546His) c.4522A>C (p.Asn1508His) c.4652A>C (p.Glu1551Ala) n.4651A>C n.4667A>C c.2866A>C (p.Asn956His) c.2149A>C (p.Asn717His) | gnomAD v4 |
| 11 | g.68446442A>G | CA381616776 | LRP5 | c.4495A>G (p.Asn1499Asp) c.165A>G c.*3101A>G (n.*3101A>G) c.2752A>G (p.Asn918Asp) c.4609A>G (p.Asn1537Asp) c.4636A>G (p.Asn1546Asp) c.4522A>G (p.Asn1508Asp) c.4652A>G (p.Glu1551Gly) n.4651A>G n.4667A>G c.2866A>G (p.Asn956Asp) c.2149A>G (p.Asn717Asp) | |
| 11 | g.68446442A>T | CA381616774 | LRP5 | c.4495A>T (p.Asn1499Tyr) c.165A>T c.*3101A>T (n.*3101A>T) c.2752A>T (p.Asn918Tyr) c.4609A>T (p.Asn1537Tyr) c.4636A>T (p.Asn1546Tyr) c.4522A>T (p.Asn1508Tyr) c.4652A>T (p.Glu1551Val) n.4651A>T n.4667A>T c.2866A>T (p.Asn956Tyr) c.2149A>T (p.Asn717Tyr) | |
| 11 | g.68446443A= | CA1980664403 | LRP5 | c.4496A= (p.Asn1499=) c.166A= c.*3102A= (n.*3102A=) c.2753A= (p.Asn918=) c.4610A= (p.Asn1537=) c.4637A= (p.Asn1546=) c.4523A= (p.Asn1508=) c.4653A= (p.Glu1551=) n.4652A= n.4668A= c.2867A= (p.Asn956=) c.2150A= (p.Asn717=) | |
| 11 | g.68446443A>C | CA381616779 | LRP5 | c.4496A>C (p.Asn1499Thr) c.166A>C c.*3102A>C (n.*3102A>C) c.2753A>C (p.Asn918Thr) c.4610A>C (p.Asn1537Thr) c.4637A>C (p.Asn1546Thr) c.4523A>C (p.Asn1508Thr) c.4653A>C (p.Glu1551Asp) n.4652A>C n.4668A>C c.2867A>C (p.Asn956Thr) c.2150A>C (p.Asn717Thr) | dbSNP |
| 11 | g.68446443A>G | CA6150412 | LRP5 | c.4496A>G (p.Asn1499Ser) c.166A>G c.*3102A>G (n.*3102A>G) c.2753A>G (p.Asn918Ser) c.4610A>G (p.Asn1537Ser) c.4637A>G (p.Asn1546Ser) c.4523A>G (p.Asn1508Ser) c.4653A>G (p.Glu1551=) n.4652A>G n.4668A>G c.2867A>G (p.Asn956Ser) c.2150A>G (p.Asn717Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68446443A>T | CA381616782 | LRP5 | c.4496A>T (p.Asn1499Ile) c.166A>T c.*3102A>T (n.*3102A>T) c.2753A>T (p.Asn918Ile) c.4610A>T (p.Asn1537Ile) c.4637A>T (p.Asn1546Ile) c.4523A>T (p.Asn1508Ile) c.4653A>T (p.Glu1551Asp) n.4652A>T n.4668A>T c.2867A>T (p.Asn956Ile) c.2150A>T (p.Asn717Ile) | |
| 11 | g.68446444C>A | CA381616784 | LRP5 | c.4497C>A (p.Asn1499Lys) c.167C>A c.*3103C>A (n.*3103C>A) c.2754C>A (p.Asn918Lys) c.4611C>A (p.Asn1537Lys) c.4638C>A (p.Asn1546Lys) c.4524C>A (p.Asn1508Lys) c.4654C>A (p.Pro1552Thr) n.4653C>A n.4669C>A c.2868C>A (p.Asn956Lys) c.2151C>A (p.Asn717Lys) | |
| 11 | g.68446444C= | CA1980664406 | LRP5 | c.4497C= (p.Asn1499=) c.167C= c.*3103C= (n.*3103C=) c.2754C= (p.Asn918=) c.4611C= (p.Asn1537=) c.4638C= (p.Asn1546=) c.4524C= (p.Asn1508=) c.4654C= (p.Pro1552=) n.4653C= n.4669C= c.2868C= (p.Asn956=) c.2151C= (p.Asn717=) | |
| 11 | g.68446444C>G | CA381616786 | LRP5 | c.4497C>G (p.Asn1499Lys) c.167C>G c.*3103C>G (n.*3103C>G) c.2754C>G (p.Asn918Lys) c.4611C>G (p.Asn1537Lys) c.4638C>G (p.Asn1546Lys) c.4524C>G (p.Asn1508Lys) c.4654C>G (p.Pro1552Ala) n.4653C>G n.4669C>G c.2868C>G (p.Asn956Lys) c.2151C>G (p.Asn717Lys) | |
| 11 | g.68446444C>T | CA6150413 | LRP5 | c.4497C>T (p.Asn1499=) c.167C>T c.*3103C>T (n.*3103C>T) c.2754C>T (p.Asn918=) c.4611C>T (p.Asn1537=) c.4638C>T (p.Asn1546=) c.4524C>T (p.Asn1508=) c.4654C>T (p.Pro1552Ser) n.4653C>T n.4669C>T c.2868C>T (p.Asn956=) c.2151C>T (p.Asn717=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68446445C>A | CA381616790 | LRP5 | c.4498C>A (p.Pro1500Thr) c.168C>A c.*3104C>A (n.*3104C>A) c.2755C>A (p.Pro919Thr) c.4612C>A (p.Pro1538Thr) c.4639C>A (p.Pro1547Thr) c.4525C>A (p.Pro1509Thr) c.4655C>A (p.Pro1552His) n.4654C>A n.4670C>A c.2869C>A (p.Pro957Thr) c.2152C>A (p.Pro718Thr) | |
| 11 | g.68446445C>G | CA381616792 | LRP5 | c.4498C>G (p.Pro1500Ala) c.168C>G c.*3104C>G (n.*3104C>G) c.2755C>G (p.Pro919Ala) c.4612C>G (p.Pro1538Ala) c.4639C>G (p.Pro1547Ala) c.4525C>G (p.Pro1509Ala) c.4655C>G (p.Pro1552Arg) n.4654C>G n.4670C>G c.2869C>G (p.Pro957Ala) c.2152C>G (p.Pro718Ala) | |
| 11 | g.68446445C>T | CA381616794 | LRP5 | c.4498C>T (p.Pro1500Ser) c.168C>T c.*3104C>T (n.*3104C>T) c.2755C>T (p.Pro919Ser) c.4612C>T (p.Pro1538Ser) c.4639C>T (p.Pro1547Ser) c.4525C>T (p.Pro1509Ser) c.4655C>T (p.Pro1552Leu) n.4654C>T n.4670C>T c.2869C>T (p.Pro957Ser) c.2152C>T (p.Pro718Ser) | COSMIC |
| 11 | g.68446446C>A | CA381616795 | LRP5 | c.4499C>A (p.Pro1500Gln) c.169C>A c.*3105C>A (n.*3105C>A) c.2756C>A (p.Pro919Gln) c.4613C>A (p.Pro1538Gln) c.4640C>A (p.Pro1547Gln) c.4526C>A (p.Pro1509Gln) c.4656C>A (p.Pro1552=) n.4655C>A n.4671C>A c.2870C>A (p.Pro957Gln) c.2153C>A (p.Pro718Gln) | |
| 11 | g.68446446C= | CA1980664415 | LRP5 | c.4499C= (p.Pro1500=) c.169C= c.*3105C= (n.*3105C=) c.2756C= (p.Pro919=) c.4613C= (p.Pro1538=) c.4640C= (p.Pro1547=) c.4526C= (p.Pro1509=) c.4656C= (p.Pro1552=) n.4655C= n.4671C= c.2870C= (p.Pro957=) c.2153C= (p.Pro718=) | |
| 11 | g.68446446C>G | CA381616798 | LRP5 | c.4499C>G (p.Pro1500Arg) c.169C>G c.*3105C>G (n.*3105C>G) c.2756C>G (p.Pro919Arg) c.4613C>G (p.Pro1538Arg) c.4640C>G (p.Pro1547Arg) c.4526C>G (p.Pro1509Arg) c.4656C>G (p.Pro1552=) n.4655C>G n.4671C>G c.2870C>G (p.Pro957Arg) c.2153C>G (p.Pro718Arg) | |
| 11 | g.68446446C>T | CA381616799 | LRP5 | c.4499C>T (p.Pro1500Leu) c.169C>T c.*3105C>T (n.*3105C>T) c.2756C>T (p.Pro919Leu) c.4613C>T (p.Pro1538Leu) c.4640C>T (p.Pro1547Leu) c.4526C>T (p.Pro1509Leu) c.4656C>T (p.Pro1552=) n.4655C>T n.4671C>T c.2870C>T (p.Pro957Leu) c.2153C>T (p.Pro718Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68446447G>A | CA6150414 | LRP5 | c.4500G>A (p.Pro1500=) c.170G>A c.*3106G>A (n.*3106G>A) c.2757G>A (p.Pro919=) c.4614G>A (p.Pro1538=) c.4641G>A (p.Pro1547=) c.4527G>A (p.Pro1509=) c.4657G>A (p.Ala1553Thr) n.4656G>A n.4672G>A c.2871G>A (p.Pro957=) c.2154G>A (p.Pro718=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68446447G>C | CA475462228 | LRP5 | c.4500G>C (p.Pro1500=) c.170G>C c.*3106G>C (n.*3106G>C) c.2757G>C (p.Pro919=) c.4614G>C (p.Pro1538=) c.4641G>C (p.Pro1547=) c.4527G>C (p.Pro1509=) c.4657G>C (p.Ala1553Pro) n.4656G>C n.4672G>C c.2871G>C (p.Pro957=) c.2154G>C (p.Pro718=) | |
| 11 | g.68446447G= | CA1980664418 | LRP5 | c.4500G= (p.Pro1500=) c.170G= c.*3106G= (n.*3106G=) c.2757G= (p.Pro919=) c.4614G= (p.Pro1538=) c.4641G= (p.Pro1547=) c.4527G= (p.Pro1509=) c.4657G= (p.Ala1553=) n.4656G= n.4672G= c.2871G= (p.Pro957=) c.2154G= (p.Pro718=) | |
| 11 | g.68446447G>T | CA475462229 | LRP5 | c.4500G>T (p.Pro1500=) c.170G>T c.*3106G>T (n.*3106G>T) c.2757G>T (p.Pro919=) c.4614G>T (p.Pro1538=) c.4641G>T (p.Pro1547=) c.4527G>T (p.Pro1509=) c.4657G>T (p.Ala1553Ser) n.4656G>T n.4672G>T c.2871G>T (p.Pro957=) c.2154G>T (p.Pro718=) | dbSNP |
| 11 | g.68446448C>A | CA381616802 | LRP5 | c.4501C>A (p.Pro1501Thr) c.171C>A c.*3107C>A (n.*3107C>A) c.2758C>A (p.Pro920Thr) c.4615C>A (p.Pro1539Thr) c.4642C>A (p.Pro1548Thr) c.4528C>A (p.Pro1510Thr) c.4658C>A (p.Ala1553Asp) n.4657C>A n.4673C>A c.2872C>A (p.Pro958Thr) c.2155C>A (p.Pro719Thr) | |
| 11 | g.68446448C>G | CA381616805 | LRP5 | c.4501C>G (p.Pro1501Ala) c.171C>G c.*3107C>G (n.*3107C>G) c.2758C>G (p.Pro920Ala) c.4615C>G (p.Pro1539Ala) c.4642C>G (p.Pro1548Ala) c.4528C>G (p.Pro1510Ala) c.4658C>G (p.Ala1553Gly) n.4657C>G n.4673C>G c.2872C>G (p.Pro958Ala) c.2155C>G (p.Pro719Ala) |