| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.68448822C>A | CA475462502 | LRP5 | c.4600C>A (p.Arg1534=) n.191C>A c.270C>A c.*3206C>A (n.*3206C>A) c.2857C>A (p.Arg953=) c.4714C>A (p.Arg1572=) c.4741C>A (p.Arg1581=) c.4627C>A (p.Arg1543=) c.4757C>A (p.Ser1586Ter) n.4987C>A n.5003C>A c.2971C>A (p.Arg991=) c.2254C>A (p.Arg752=) | |
| 11 | g.68448822C= | CA1980666838 | LRP5 | c.4600C= (p.Arg1534=) n.191C= c.270C= c.*3206C= (n.*3206C=) c.2857C= (p.Arg953=) c.4714C= (p.Arg1572=) c.4741C= (p.Arg1581=) c.4627C= (p.Arg1543=) c.4757C= (p.Ser1586=) n.4987C= n.5003C= c.2971C= (p.Arg991=) c.2254C= (p.Arg752=) | |
| 11 | g.68448822C>G | CA6150460 | LRP5 | c.4600C>G (p.Arg1534Gly) n.191C>G c.270C>G c.*3206C>G (n.*3206C>G) c.2857C>G (p.Arg953Gly) c.4714C>G (p.Arg1572Gly) c.4741C>G (p.Arg1581Gly) c.4627C>G (p.Arg1543Gly) c.4757C>G (p.Ser1586Trp) n.4987C>G n.5003C>G c.2971C>G (p.Arg991Gly) c.2254C>G (p.Arg752Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.68448822C>T | CA130819 | LRP5 | c.4600C>T (p.Arg1534Ter) n.191C>T c.270C>T c.*3206C>T (n.*3206C>T) c.2857C>T (p.Arg953Ter) c.4714C>T (p.Arg1572Ter) c.4741C>T (p.Arg1581Ter) c.4627C>T (p.Arg1543Ter) c.4757C>T (p.Ser1586Leu) n.4987C>T n.5003C>T c.2971C>T (p.Arg991Ter) c.2254C>T (p.Arg752Ter) | ClinVar dbSNP gnomAD v4 |
| 11 | g.68448823G>A | CA224260668 | LRP5 | c.4601G>A (p.Arg1534Gln) n.192G>A c.271G>A c.*3207G>A (n.*3207G>A) c.2858G>A (p.Arg953Gln) c.4715G>A (p.Arg1572Gln) c.4742G>A (p.Arg1581Gln) c.4628G>A (p.Arg1543Gln) c.4758G>A (p.Ser1586=) n.4988G>A n.5004G>A c.2972G>A (p.Arg991Gln) c.2255G>A (p.Arg752Gln) | dbSNP gnomAD v4 |
| 11 | g.68448823G>C | CA381617832 | LRP5 | c.4601G>C (p.Arg1534Pro) n.192G>C c.271G>C c.*3207G>C (n.*3207G>C) c.2858G>C (p.Arg953Pro) c.4715G>C (p.Arg1572Pro) c.4742G>C (p.Arg1581Pro) c.4628G>C (p.Arg1543Pro) c.4758G>C (p.Ser1586=) n.4988G>C n.5004G>C c.2972G>C (p.Arg991Pro) c.2255G>C (p.Arg752Pro) | |
| 11 | g.68448823G= | CA1980666844 | LRP5 | c.4601G= (p.Arg1534=) n.192G= c.271G= c.*3207G= (n.*3207G=) c.2858G= (p.Arg953=) c.4715G= (p.Arg1572=) c.4742G= (p.Arg1581=) c.4628G= (p.Arg1543=) c.4758G= (p.Ser1586=) n.4988G= n.5004G= c.2972G= (p.Arg991=) c.2255G= (p.Arg752=) | |
| 11 | g.68448823G>T | CA381617834 | LRP5 | c.4601G>T (p.Arg1534Leu) n.192G>T c.271G>T c.*3207G>T (n.*3207G>T) c.2858G>T (p.Arg953Leu) c.4715G>T (p.Arg1572Leu) c.4742G>T (p.Arg1581Leu) c.4628G>T (p.Arg1543Leu) c.4758G>T (p.Ser1586=) n.4988G>T n.5004G>T c.2972G>T (p.Arg991Leu) c.2255G>T (p.Arg752Leu) | gnomAD v4 |
| 11 | g.68448824A= | CA1980666849 | LRP5 | c.4602A= (p.Arg1534=) n.193A= c.272A= c.*3208A= (n.*3208A=) c.2859A= (p.Arg953=) c.4716A= (p.Arg1572=) c.4743A= (p.Arg1581=) c.4629A= (p.Arg1543=) c.4759A= (p.Arg1587=) n.4989A= n.5005A= c.2973A= (p.Arg991=) c.2256A= (p.Arg752=) | |
| 11 | g.68448824A>C | CA475462503 | LRP5 | c.4602A>C (p.Arg1534=) n.193A>C c.272A>C c.*3208A>C (n.*3208A>C) c.2859A>C (p.Arg953=) c.4716A>C (p.Arg1572=) c.4743A>C (p.Arg1581=) c.4629A>C (p.Arg1543=) c.4759A>C (p.Arg1587=) n.4989A>C n.5005A>C c.2973A>C (p.Arg991=) c.2256A>C (p.Arg752=) | ClinVar dbSNP |
| 11 | g.68448824A>G | CA475462504 | LRP5 | c.4602A>G (p.Arg1534=) n.193A>G c.272A>G c.*3208A>G (n.*3208A>G) c.2859A>G (p.Arg953=) c.4716A>G (p.Arg1572=) c.4743A>G (p.Arg1581=) c.4629A>G (p.Arg1543=) c.4759A>G (p.Arg1587Gly) n.4989A>G n.5005A>G c.2973A>G (p.Arg991=) c.2256A>G (p.Arg752=) | |
| 11 | g.68448824A>T | CA6150461 | LRP5 | c.4602A>T (p.Arg1534=) n.193A>T c.272A>T c.*3208A>T (n.*3208A>T) c.2859A>T (p.Arg953=) c.4716A>T (p.Arg1572=) c.4743A>T (p.Arg1581=) c.4629A>T (p.Arg1543=) c.4759A>T (p.Arg1587Trp) n.4989A>T n.5005A>T c.2973A>T (p.Arg991=) c.2256A>T (p.Arg752=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.68448825G>A | CA381617838 | LRP5 | c.4603G>A (p.Gly1535Arg) n.194G>A c.273G>A c.*3209G>A (n.*3209G>A) c.2860G>A (p.Gly954Arg) c.4717G>A (p.Gly1573Arg) c.4744G>A (p.Gly1582Arg) c.4630G>A (p.Gly1544Arg) c.4760G>A (p.Arg1587Lys) n.4990G>A n.5006G>A c.2974G>A (p.Gly992Arg) c.2257G>A (p.Gly753Arg) | dbSNP |
| 11 | g.68448825G>C | CA381617839 | LRP5 | c.4603G>C (p.Gly1535Arg) n.194G>C c.273G>C c.*3209G>C (n.*3209G>C) c.2860G>C (p.Gly954Arg) c.4717G>C (p.Gly1573Arg) c.4744G>C (p.Gly1582Arg) c.4630G>C (p.Gly1544Arg) c.4760G>C (p.Arg1587Thr) n.4990G>C n.5006G>C c.2974G>C (p.Gly992Arg) c.2257G>C (p.Gly753Arg) | |
| 11 | g.68448825G= | CA1980666852 | LRP5 | c.4603G= (p.Gly1535=) n.194G= c.273G= c.*3209G= (n.*3209G=) c.2860G= (p.Gly954=) c.4717G= (p.Gly1573=) c.4744G= (p.Gly1582=) c.4630G= (p.Gly1544=) c.4760G= (p.Arg1587=) n.4990G= n.5006G= c.2974G= (p.Gly992=) c.2257G= (p.Gly753=) | |
| 11 | g.68448825G>T | CA381617841 | LRP5 | c.4603G>T (p.Gly1535Ter) n.194G>T c.273G>T c.*3209G>T (n.*3209G>T) c.2860G>T (p.Gly954Ter) c.4717G>T (p.Gly1573Ter) c.4744G>T (p.Gly1582Ter) c.4630G>T (p.Gly1544Ter) c.4760G>T (p.Arg1587Met) n.4990G>T n.5006G>T c.2974G>T (p.Gly992Ter) c.2257G>T (p.Gly753Ter) | gnomAD v4 |
| 11 | g.68448826G>A | CA381617843 | LRP5 | c.4604G>A (p.Gly1535Glu) n.195G>A c.274G>A c.*3210G>A (n.*3210G>A) c.2861G>A (p.Gly954Glu) c.4718G>A (p.Gly1573Glu) c.4745G>A (p.Gly1582Glu) c.4631G>A (p.Gly1544Glu) c.4761G>A (p.Arg1587=) n.4991G>A n.5007G>A c.2975G>A (p.Gly992Glu) c.2258G>A (p.Gly753Glu) | |
| 11 | g.68448826G>C | CA381617845 | LRP5 | c.4604G>C (p.Gly1535Ala) n.195G>C c.274G>C c.*3210G>C (n.*3210G>C) c.2861G>C (p.Gly954Ala) c.4718G>C (p.Gly1573Ala) c.4745G>C (p.Gly1582Ala) c.4631G>C (p.Gly1544Ala) c.4761G>C (p.Arg1587Ser) n.4991G>C n.5007G>C c.2975G>C (p.Gly992Ala) c.2258G>C (p.Gly753Ala) | |
| 11 | g.68448826G>T | CA381617846 | LRP5 | c.4604G>T (p.Gly1535Val) n.195G>T c.274G>T c.*3210G>T (n.*3210G>T) c.2861G>T (p.Gly954Val) c.4718G>T (p.Gly1573Val) c.4745G>T (p.Gly1582Val) c.4631G>T (p.Gly1544Val) c.4761G>T (p.Arg1587Ser) n.4991G>T n.5007G>T c.2975G>T (p.Gly992Val) c.2258G>T (p.Gly753Val) | ClinVar gnomAD v4 |
| 11 | g.68448827A= | CA1980666855 | LRP5 | c.4605A= (p.Gly1535=) n.196A= c.275A= c.*3211A= (n.*3211A=) c.2862A= (p.Gly954=) c.4719A= (p.Gly1573=) c.4746A= (p.Gly1582=) c.4632A= (p.Gly1544=) c.4762A= (p.Asn1588=) n.4992A= n.5008A= c.2976A= (p.Gly992=) c.2259A= (p.Gly753=) | |
| 11 | g.68448827A>C | CA475462505 | LRP5 | c.4605A>C (p.Gly1535=) n.196A>C c.275A>C c.*3211A>C (n.*3211A>C) c.2862A>C (p.Gly954=) c.4719A>C (p.Gly1573=) c.4746A>C (p.Gly1582=) c.4632A>C (p.Gly1544=) c.4762A>C (p.Asn1588His) n.4992A>C n.5008A>C c.2976A>C (p.Gly992=) c.2259A>C (p.Gly753=) | |
| 11 | g.68448827A>G | CA475462506 | LRP5 | c.4605A>G (p.Gly1535=) n.196A>G c.275A>G c.*3211A>G (n.*3211A>G) c.2862A>G (p.Gly954=) c.4719A>G (p.Gly1573=) c.4746A>G (p.Gly1582=) c.4632A>G (p.Gly1544=) c.4762A>G (p.Asn1588Asp) n.4992A>G n.5008A>G c.2976A>G (p.Gly992=) c.2259A>G (p.Gly753=) | dbSNP gnomAD v4 |
| 11 | g.68448827A>T | CA475462507 | LRP5 | c.4605A>T (p.Gly1535=) n.196A>T c.275A>T c.*3211A>T (n.*3211A>T) c.2862A>T (p.Gly954=) c.4719A>T (p.Gly1573=) c.4746A>T (p.Gly1582=) c.4632A>T (p.Gly1544=) c.4762A>T (p.Asn1588Tyr) n.4992A>T n.5008A>T c.2976A>T (p.Gly992=) c.2259A>T (p.Gly753=) | gnomAD v4 |
| 11 | g.68448828A>C | CA381617848 | LRP5 | c.4606A>C (p.Met1536Leu) n.197A>C c.276A>C c.*3212A>C (n.*3212A>C) c.2863A>C (p.Met955Leu) c.4720A>C (p.Met1574Leu) c.4747A>C (p.Met1583Leu) c.4633A>C (p.Met1545Leu) c.4763A>C (p.Asn1588Thr) n.4993A>C n.5009A>C c.2977A>C (p.Met993Leu) c.2260A>C (p.Met754Leu) | |
| 11 | g.68448828A>G | CA381617851 | LRP5 | c.4606A>G (p.Met1536Val) n.197A>G c.276A>G c.*3212A>G (n.*3212A>G) c.2863A>G (p.Met955Val) c.4720A>G (p.Met1574Val) c.4747A>G (p.Met1583Val) c.4633A>G (p.Met1545Val) c.4763A>G (p.Asn1588Ser) n.4993A>G n.5009A>G c.2977A>G (p.Met993Val) c.2260A>G (p.Met754Val) | |
| 11 | g.68448828A>T | CA381617852 | LRP5 | c.4606A>T (p.Met1536Leu) n.197A>T c.276A>T c.*3212A>T (n.*3212A>T) c.2863A>T (p.Met955Leu) c.4720A>T (p.Met1574Leu) c.4747A>T (p.Met1583Leu) c.4633A>T (p.Met1545Leu) c.4763A>T (p.Asn1588Ile) n.4993A>T n.5009A>T c.2977A>T (p.Met993Leu) c.2260A>T (p.Met754Leu) | |
| 11 | g.68448829T>A | CA381617854 | LRP5 | c.4607T>A (p.Met1536Lys) n.198T>A c.277T>A c.*3213T>A (n.*3213T>A) c.2864T>A (p.Met955Lys) c.4721T>A (p.Met1574Lys) c.4748T>A (p.Met1583Lys) c.4634T>A (p.Met1545Lys) c.4764T>A (p.Asn1588Lys) n.4994T>A n.5010T>A c.2978T>A (p.Met993Lys) c.2261T>A (p.Met754Lys) | |
| 11 | g.68448829T>C | CA381617856 | LRP5 | c.4607T>C (p.Met1536Thr) n.198T>C c.277T>C c.*3213T>C (n.*3213T>C) c.2864T>C (p.Met955Thr) c.4721T>C (p.Met1574Thr) c.4748T>C (p.Met1583Thr) c.4634T>C (p.Met1545Thr) c.4764T>C (p.Asn1588=) n.4994T>C n.5010T>C c.2978T>C (p.Met993Thr) c.2261T>C (p.Met754Thr) | |
| 11 | g.68448829T>G | CA381617858 | LRP5 | c.4607T>G (p.Met1536Arg) n.198T>G c.277T>G c.*3213T>G (n.*3213T>G) c.2864T>G (p.Met955Arg) c.4721T>G (p.Met1574Arg) c.4748T>G (p.Met1583Arg) c.4634T>G (p.Met1545Arg) c.4764T>G (p.Asn1588Lys) n.4994T>G n.5010T>G c.2978T>G (p.Met993Arg) c.2261T>G (p.Met754Arg) | |
| 11 | g.68448830G>A | CA381617864 | LRP5 | c.4608G>A (p.Met1536Ile) n.199G>A c.278G>A c.*3214G>A (n.*3214G>A) c.2865G>A (p.Met955Ile) c.4722G>A (p.Met1574Ile) c.4749G>A (p.Met1583Ile) c.4635G>A (p.Met1545Ile) c.4765G>A (p.Gly1589Ser) n.4995G>A n.5011G>A c.2979G>A (p.Met993Ile) c.2262G>A (p.Met754Ile) | gnomAD v4 |
| 11 | g.68448830G>C | CA381617863 | LRP5 | c.4608G>C (p.Met1536Ile) n.199G>C c.278G>C c.*3214G>C (n.*3214G>C) c.2865G>C (p.Met955Ile) c.4722G>C (p.Met1574Ile) c.4749G>C (p.Met1583Ile) c.4635G>C (p.Met1545Ile) c.4765G>C (p.Gly1589Arg) n.4995G>C n.5011G>C c.2979G>C (p.Met993Ile) c.2262G>C (p.Met754Ile) | |
| 11 | g.68448830G>T | CA381617861 | LRP5 | c.4608G>T (p.Met1536Ile) n.199G>T c.278G>T c.*3214G>T (n.*3214G>T) c.2865G>T (p.Met955Ile) c.4722G>T (p.Met1574Ile) c.4749G>T (p.Met1583Ile) c.4635G>T (p.Met1545Ile) c.4765G>T (p.Gly1589Cys) n.4995G>T n.5011G>T c.2979G>T (p.Met993Ile) c.2262G>T (p.Met754Ile) | gnomAD v4 |
| 11 | g.68448831G>A | CA6150462 | LRP5 | c.4609G>A (p.Ala1537Thr) n.200G>A c.279G>A c.*3215G>A (n.*3215G>A) c.2866G>A (p.Ala956Thr) c.4723G>A (p.Ala1575Thr) c.4750G>A (p.Ala1584Thr) c.4636G>A (p.Ala1546Thr) c.4766G>A (p.Gly1589Asp) n.4996G>A n.5012G>A c.2980G>A (p.Ala994Thr) c.2263G>A (p.Ala755Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68448831G>C | CA381617867 | LRP5 | c.4609G>C (p.Ala1537Pro) n.200G>C c.279G>C c.*3215G>C (n.*3215G>C) c.2866G>C (p.Ala956Pro) c.4723G>C (p.Ala1575Pro) c.4750G>C (p.Ala1584Pro) c.4636G>C (p.Ala1546Pro) c.4766G>C (p.Gly1589Ala) n.4996G>C n.5012G>C c.2980G>C (p.Ala994Pro) c.2263G>C (p.Ala755Pro) | |
| 11 | g.68448831G= | CA1980666858 | LRP5 | c.4609G= (p.Ala1537=) n.200G= c.279G= c.*3215G= (n.*3215G=) c.2866G= (p.Ala956=) c.4723G= (p.Ala1575=) c.4750G= (p.Ala1584=) c.4636G= (p.Ala1546=) c.4766G= (p.Gly1589=) n.4996G= n.5012G= c.2980G= (p.Ala994=) c.2263G= (p.Ala755=) | |
| 11 | g.68448831G>T | CA381617869 | LRP5 | c.4609G>T (p.Ala1537Ser) n.200G>T c.279G>T c.*3215G>T (n.*3215G>T) c.2866G>T (p.Ala956Ser) c.4723G>T (p.Ala1575Ser) c.4750G>T (p.Ala1584Ser) c.4636G>T (p.Ala1546Ser) c.4766G>T (p.Gly1589Val) n.4996G>T n.5012G>T c.2980G>T (p.Ala994Ser) c.2263G>T (p.Ala755Ser) | gnomAD v4 |
| 11 | g.68448832C>A | CA381617871 | LRP5 | c.4610C>A (p.Ala1537Glu) n.201C>A c.280C>A c.*3216C>A (n.*3216C>A) c.2867C>A (p.Ala956Glu) c.4724C>A (p.Ala1575Glu) c.4751C>A (p.Ala1584Glu) c.4637C>A (p.Ala1546Glu) c.4767C>A (p.Gly1589=) n.4997C>A n.5013C>A c.2981C>A (p.Ala994Glu) c.2264C>A (p.Ala755Glu) | |
| 11 | g.68448832C= | CA1980666863 | LRP5 | c.4610C= (p.Ala1537=) n.201C= c.280C= c.*3216C= (n.*3216C=) c.2867C= (p.Ala956=) c.4724C= (p.Ala1575=) c.4751C= (p.Ala1584=) c.4637C= (p.Ala1546=) c.4767C= (p.Gly1589=) n.4997C= n.5013C= c.2981C= (p.Ala994=) c.2264C= (p.Ala755=) | |
| 11 | g.68448832C>G | CA381617873 | LRP5 | c.4610C>G (p.Ala1537Gly) n.201C>G c.280C>G c.*3216C>G (n.*3216C>G) c.2867C>G (p.Ala956Gly) c.4724C>G (p.Ala1575Gly) c.4751C>G (p.Ala1584Gly) c.4637C>G (p.Ala1546Gly) c.4767C>G (p.Gly1589=) n.4997C>G n.5013C>G c.2981C>G (p.Ala994Gly) c.2264C>G (p.Ala755Gly) | |
| 11 | g.68448832C>T | CA6150463 | LRP5 | c.4610C>T (p.Ala1537Val) n.201C>T c.280C>T c.*3216C>T (n.*3216C>T) c.2867C>T (p.Ala956Val) c.4724C>T (p.Ala1575Val) c.4751C>T (p.Ala1584Val) c.4637C>T (p.Ala1546Val) c.4767C>T (p.Gly1589=) n.4997C>T n.5013C>T c.2981C>T (p.Ala994Val) c.2264C>T (p.Ala755Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68448833G>A | CA6150464 | LRP5 | c.4611G>A (p.Ala1537=) n.202G>A c.281G>A c.*3217G>A (n.*3217G>A) c.2868G>A (p.Ala956=) c.4725G>A (p.Ala1575=) c.4752G>A (p.Ala1584=) c.4638G>A (p.Ala1546=) c.4768G>A (p.Ala1590Thr) n.4998G>A n.5014G>A c.2982G>A (p.Ala994=) c.2265G>A (p.Ala755=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.68448833G>C | CA475462509 | LRP5 | c.4611G>C (p.Ala1537=) n.202G>C c.281G>C c.*3217G>C (n.*3217G>C) c.2868G>C (p.Ala956=) c.4725G>C (p.Ala1575=) c.4752G>C (p.Ala1584=) c.4638G>C (p.Ala1546=) c.4768G>C (p.Ala1590Pro) n.4998G>C n.5014G>C c.2982G>C (p.Ala994=) c.2265G>C (p.Ala755=) | |
| 11 | g.68448833G= | CA1980666867 | LRP5 | c.4611G= (p.Ala1537=) n.202G= c.281G= c.*3217G= (n.*3217G=) c.2868G= (p.Ala956=) c.4725G= (p.Ala1575=) c.4752G= (p.Ala1584=) c.4638G= (p.Ala1546=) c.4768G= (p.Ala1590=) n.4998G= n.5014G= c.2982G= (p.Ala994=) c.2265G= (p.Ala755=) | |
| 11 | g.68448833G>T | CA475462508 | LRP5 | c.4611G>T (p.Ala1537=) n.202G>T c.281G>T c.*3217G>T (n.*3217G>T) c.2868G>T (p.Ala956=) c.4725G>T (p.Ala1575=) c.4752G>T (p.Ala1584=) c.4638G>T (p.Ala1546=) c.4768G>T (p.Ala1590Ser) n.4998G>T n.5014G>T c.2982G>T (p.Ala994=) c.2265G>T (p.Ala755=) | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.68448834C>A | CA381617877 | LRP5 | c.4612C>A (p.Pro1538Thr) n.203C>A c.282C>A c.*3218C>A (n.*3218C>A) c.2869C>A (p.Pro957Thr) c.4726C>A (p.Pro1576Thr) c.4753C>A (p.Pro1585Thr) c.4639C>A (p.Pro1547Thr) c.4769C>A (p.Ala1590Asp) n.4999C>A n.5015C>A c.2983C>A (p.Pro995Thr) c.2266C>A (p.Pro756Thr) | |
| 11 | g.68448834C= | CA1980666872 | LRP5 | c.4612C= (p.Pro1538=) n.203C= c.282C= c.*3218C= (n.*3218C=) c.2869C= (p.Pro957=) c.4726C= (p.Pro1576=) c.4753C= (p.Pro1585=) c.4639C= (p.Pro1547=) c.4769C= (p.Ala1590=) n.4999C= n.5015C= c.2983C= (p.Pro995=) c.2266C= (p.Pro756=) | |
| 11 | g.68448834C>G | CA381617879 | LRP5 | c.4612C>G (p.Pro1538Ala) n.203C>G c.282C>G c.*3218C>G (n.*3218C>G) c.2869C>G (p.Pro957Ala) c.4726C>G (p.Pro1576Ala) c.4753C>G (p.Pro1585Ala) c.4639C>G (p.Pro1547Ala) c.4769C>G (p.Ala1590Gly) n.4999C>G n.5015C>G c.2983C>G (p.Pro995Ala) c.2266C>G (p.Pro756Ala) | |
| 11 | g.68448834C>T | CA381617881 | LRP5 | c.4612C>T (p.Pro1538Ser) n.203C>T c.282C>T c.*3218C>T (n.*3218C>T) c.2869C>T (p.Pro957Ser) c.4726C>T (p.Pro1576Ser) c.4753C>T (p.Pro1585Ser) c.4639C>T (p.Pro1547Ser) c.4769C>T (p.Ala1590Val) n.4999C>T n.5015C>T c.2983C>T (p.Pro995Ser) c.2266C>T (p.Pro756Ser) | dbSNP gnomAD v4 |
| 11 | g.68448838del | CA2614718075 | LRP5 | c.4616del (p.Pro1539ArgfsTer28) n.207del c.286del c.*3222del (n.*3222del) c.2873del (p.Pro958ArgfsTer28) c.4730del (p.Pro1577ArgfsTer28) c.4757del (p.Pro1586ArgfsTer28) c.4643del (p.Pro1548ArgfsTer28) c.4773del (p.Asp1592ThrfsTer?) n.5003del n.5019del c.2987del (p.Pro996ArgfsTer28) c.2270del (p.Pro757ArgfsTer28) | gnomAD v4 |
| 11 | g.68448835C>A | CA381617883 | LRP5 | c.4613C>A (p.Pro1538His) n.204C>A c.283C>A c.*3219C>A (n.*3219C>A) c.2870C>A (p.Pro957His) c.4727C>A (p.Pro1576His) c.4754C>A (p.Pro1585His) c.4640C>A (p.Pro1547His) c.4770C>A (p.Ala1590=) n.5000C>A n.5016C>A c.2984C>A (p.Pro995His) c.2267C>A (p.Pro756His) | dbSNP |