Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.68409980C>A | CA381616397 | LRP5 | c.2158C>A (p.Pro720Thr) c.*764C>A (n.*764C>A) c.415C>A (p.Pro139Thr) c.2185C>A (p.Pro729Thr) n.2200C>A | |
11 | g.68409980C>G | CA381616398 | LRP5 | c.2158C>G (p.Pro720Ala) c.*764C>G (n.*764C>G) c.415C>G (p.Pro139Ala) c.2185C>G (p.Pro729Ala) n.2200C>G | |
11 | g.68409980C>T | CA381616399 | LRP5 | c.2158C>T (p.Pro720Ser) c.*764C>T (n.*764C>T) c.415C>T (p.Pro139Ser) c.2185C>T (p.Pro729Ser) n.2200C>T | |
11 | g.68409981C>A | CA381616400 | LRP5 | c.2159C>A (p.Pro720His) c.*765C>A (n.*765C>A) c.416C>A (p.Pro139His) c.2186C>A (p.Pro729His) n.2201C>A | |
11 | g.68409981C>G | CA381616401 | LRP5 | c.2159C>G (p.Pro720Arg) c.*765C>G (n.*765C>G) c.416C>G (p.Pro139Arg) c.2186C>G (p.Pro729Arg) n.2201C>G | |
11 | g.68409981C>T | CA381616402 | LRP5 | c.2159C>T (p.Pro720Leu) c.*765C>T (n.*765C>T) c.416C>T (p.Pro139Leu) c.2186C>T (p.Pro729Leu) n.2201C>T | |
11 | g.68409982C>A | CA475463057 | LRP5 | c.2160C>A (p.Pro720=) c.*766C>A (n.*766C>A) c.417C>A (p.Pro139=) c.2187C>A (p.Pro729=) n.2202C>A | |
11 | g.68409982C= | CA1980594608 | LRP5 | c.2160C= (p.Pro720=) c.*766C= (n.*766C=) c.417C= (p.Pro139=) c.2187C= (p.Pro729=) n.2202C= | |
11 | g.68409982C>G | CA475463058 | LRP5 | c.2160C>G (p.Pro720=) c.*766C>G (n.*766C>G) c.417C>G (p.Pro139=) c.2187C>G (p.Pro729=) n.2202C>G | |
11 | g.68409982C>T | CA224270074 | LRP5 | c.2160C>T (p.Pro720=) c.*766C>T (n.*766C>T) c.417C>T (p.Pro139=) c.2187C>T (p.Pro729=) n.2202C>T | dbSNP gnomAD v4 |
11 | g.68409983G>A | CA381616404 | LRP5 | c.2161G>A (p.Glu721Lys) c.*767G>A (n.*767G>A) c.418G>A (p.Glu140Lys) c.2188G>A (p.Glu730Lys) n.2203G>A | COSMIC |
11 | g.68409983G>C | CA381616405 | LRP5 | c.2161G>C (p.Glu721Gln) c.*767G>C (n.*767G>C) c.418G>C (p.Glu140Gln) c.2188G>C (p.Glu730Gln) n.2203G>C | |
11 | g.68409983G>T | CA381616403 | LRP5 | c.2161G>T (p.Glu721Ter) c.*767G>T (n.*767G>T) c.418G>T (p.Glu140Ter) c.2188G>T (p.Glu730Ter) n.2203G>T | |
11 | g.68409984A>C | CA381616408 | LRP5 | c.2162A>C (p.Glu721Ala) c.*768A>C (n.*768A>C) c.419A>C (p.Glu140Ala) c.2189A>C (p.Glu730Ala) n.2204A>C | |
11 | g.68409984A>G | CA381616406 | LRP5 | c.2162A>G (p.Glu721Gly) c.*768A>G (n.*768A>G) c.419A>G (p.Glu140Gly) c.2189A>G (p.Glu730Gly) n.2204A>G | |
11 | g.68409984A>T | CA381616407 | LRP5 | c.2162A>T (p.Glu721Val) c.*768A>T (n.*768A>T) c.419A>T (p.Glu140Val) c.2189A>T (p.Glu730Val) n.2204A>T | |
11 | g.68409985G>A | CA475463059 | LRP5 | c.2163G>A (p.Glu721=) c.*769G>A (n.*769G>A) c.420G>A (p.Glu140=) c.2190G>A (p.Glu730=) n.2205G>A | |
11 | g.68409985G>C | CA381616409 | LRP5 | c.2163G>C (p.Glu721Asp) c.*769G>C (n.*769G>C) c.420G>C (p.Glu140Asp) c.2190G>C (p.Glu730Asp) n.2205G>C | |
11 | g.68409985G>T | CA381616410 | LRP5 | c.2163G>T (p.Glu721Asp) c.*769G>T (n.*769G>T) c.420G>T (p.Glu140Asp) c.2190G>T (p.Glu730Asp) n.2205G>T | |
11 | g.68409986G>A | CA381616411 | LRP5 | c.2164G>A (p.Gly722Ser) c.*770G>A (n.*770G>A) c.421G>A (p.Gly141Ser) c.2191G>A (p.Gly731Ser) n.2206G>A | |
11 | g.68409986G>C | CA381616412 | LRP5 | c.2164G>C (p.Gly722Arg) c.*770G>C (n.*770G>C) c.421G>C (p.Gly141Arg) c.2191G>C (p.Gly731Arg) n.2206G>C | dbSNP |
11 | g.68409986G>T | CA381616413 | LRP5 | c.2164G>T (p.Gly722Cys) c.*770G>T (n.*770G>T) c.421G>T (p.Gly141Cys) c.2191G>T (p.Gly731Cys) n.2206G>T | |
11 | g.68409987G>A | CA381616414 | LRP5 | c.2165G>A (p.Gly722Asp) c.*771G>A (n.*771G>A) c.422G>A (p.Gly141Asp) c.2192G>A (p.Gly731Asp) n.2207G>A | |
11 | g.68409987G>C | CA381616415 | LRP5 | c.2165G>C (p.Gly722Ala) c.*771G>C (n.*771G>C) c.422G>C (p.Gly141Ala) c.2192G>C (p.Gly731Ala) n.2207G>C | |
11 | g.68409987G= | CA1980594609 | LRP5 | c.2165G= (p.Gly722=) c.*771G= (n.*771G=) c.422G= (p.Gly141=) c.2192G= (p.Gly731=) n.2207G= | |
11 | g.68409987G>T | CA224270076 | LRP5 | c.2165G>T (p.Gly722Val) c.*771G>T (n.*771G>T) c.422G>T (p.Gly141Val) c.2192G>T (p.Gly731Val) n.2207G>T | dbSNP |
11 | g.68409988C>A | CA475463060 | LRP5 | c.2166C>A (p.Gly722=) c.*772C>A (n.*772C>A) c.423C>A (p.Gly141=) c.2193C>A (p.Gly731=) n.2208C>A | |
11 | g.68409988C>G | CA475463061 | LRP5 | c.2166C>G (p.Gly722=) c.*772C>G (n.*772C>G) c.423C>G (p.Gly141=) c.2193C>G (p.Gly731=) n.2208C>G | |
11 | g.68409988C>T | CA475463062 | LRP5 | c.2166C>T (p.Gly722=) c.*772C>T (n.*772C>T) c.423C>T (p.Gly141=) c.2193C>T (p.Gly731=) n.2208C>T | |
11 | g.68409989A= | CA1980594611 | LRP5 | c.2167A= (p.Met723=) c.*773A= (n.*773A=) c.424A= (p.Met142=) c.2194A= (p.Met732=) n.2209A= | |
11 | g.68409989A>C | CA381616416 | LRP5 | c.2167A>C (p.Met723Leu) c.*773A>C (n.*773A>C) c.424A>C (p.Met142Leu) c.2194A>C (p.Met732Leu) n.2209A>C | |
11 | g.68409989A>G | CA381616417 | LRP5 | c.2167A>G (p.Met723Val) c.*773A>G (n.*773A>G) c.424A>G (p.Met142Val) c.2194A>G (p.Met732Val) n.2209A>G | dbSNP |
11 | g.68409989A>T | CA381616418 | LRP5 | c.2167A>T (p.Met723Leu) c.*773A>T (n.*773A>T) c.424A>T (p.Met142Leu) c.2194A>T (p.Met732Leu) n.2209A>T | |
11 | g.68409990T>A | CA381616421 | LRP5 | c.2168T>A (p.Met723Lys) c.*774T>A (n.*774T>A) c.425T>A (p.Met142Lys) c.2195T>A (p.Met732Lys) n.2210T>A | |
11 | g.68409990T>C | CA381616420 | LRP5 | c.2168T>C (p.Met723Thr) c.*774T>C (n.*774T>C) c.425T>C (p.Met142Thr) c.2195T>C (p.Met732Thr) n.2210T>C | |
11 | g.68409990T>G | CA381616419 | LRP5 | c.2168T>G (p.Met723Arg) c.*774T>G (n.*774T>G) c.425T>G (p.Met142Arg) c.2195T>G (p.Met732Arg) n.2210T>G | |
11 | g.68409991G>A | CA381616422 | LRP5 | c.2169G>A (p.Met723Ile) c.*775G>A (n.*775G>A) c.426G>A (p.Met142Ile) c.2196G>A (p.Met732Ile) n.2211G>A | |
11 | g.68409991G>C | CA381616423 | LRP5 | c.2169G>C (p.Met723Ile) c.*775G>C (n.*775G>C) c.426G>C (p.Met142Ile) c.2196G>C (p.Met732Ile) n.2211G>C | |
11 | g.68409991G= | CA1980594613 | LRP5 | c.2169G= (p.Met723=) c.*775G= (n.*775G=) c.426G= (p.Met142=) c.2196G= (p.Met732=) n.2211G= | |
11 | g.68409991G>T | CA381616424 | LRP5 | c.2169G>T (p.Met723Ile) c.*775G>T (n.*775G>T) c.426G>T (p.Met142Ile) c.2196G>T (p.Met732Ile) n.2211G>T | dbSNP |
11 | g.68409992G>A | CA381616425 | LRP5 | c.2170G>A (p.Ala724Thr) c.*776G>A (n.*776G>A) c.427G>A (p.Ala143Thr) c.2197G>A (p.Ala733Thr) n.2212G>A | |
11 | g.68409992G>C | CA381616426 | LRP5 | c.2170G>C (p.Ala724Pro) c.*776G>C (n.*776G>C) c.427G>C (p.Ala143Pro) c.2197G>C (p.Ala733Pro) n.2212G>C | |
11 | g.68409992G>T | CA381616427 | LRP5 | c.2170G>T (p.Ala724Ser) c.*776G>T (n.*776G>T) c.427G>T (p.Ala143Ser) c.2197G>T (p.Ala733Ser) n.2212G>T | |
11 | g.68409993C>A | CA381616428 | LRP5 | c.2171C>A (p.Ala724Asp) c.*777C>A (n.*777C>A) c.428C>A (p.Ala143Asp) c.2198C>A (p.Ala733Asp) n.2213C>A | |
11 | g.68409993C= | CA1980594615 | LRP5 | c.2171C= (p.Ala724=) c.*777C= (n.*777C=) c.428C= (p.Ala143=) c.2198C= (p.Ala733=) n.2213C= | |
11 | g.68409993C>G | CA381616429 | LRP5 | c.2171C>G (p.Ala724Gly) c.*777C>G (n.*777C>G) c.428C>G (p.Ala143Gly) c.2198C>G (p.Ala733Gly) n.2213C>G | |
11 | g.68409993C>T | CA6149552 | LRP5 | c.2171C>T (p.Ala724Val) c.*777C>T (n.*777C>T) c.428C>T (p.Ala143Val) c.2198C>T (p.Ala733Val) n.2213C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68409994C>A | CA475463064 | LRP5 | c.2172C>A (p.Ala724=) c.*778C>A (n.*778C>A) c.429C>A (p.Ala143=) c.2199C>A (p.Ala733=) n.2214C>A | |
11 | g.68409994C= | CA1980594618 | LRP5 | c.2172C= (p.Ala724=) c.*778C= (n.*778C=) c.429C= (p.Ala143=) c.2199C= (p.Ala733=) n.2214C= | |
11 | g.68409994C>G | CA475463065 | LRP5 | c.2172C>G (p.Ala724=) c.*778C>G (n.*778C>G) c.429C>G (p.Ala143=) c.2199C>G (p.Ala733=) n.2214C>G | |
11 | g.68409994C>T | CA6149553 | LRP5 | c.2172C>T (p.Ala724=) c.*778C>T (n.*778C>T) c.429C>T (p.Ala143=) c.2199C>T (p.Ala733=) n.2214C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68409995G>A | CA6149554 | LRP5 | c.2173G>A (p.Val725Ile) c.*779G>A (n.*779G>A) c.430G>A (p.Val144Ile) c.2200G>A (p.Val734Ile) n.2215G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68409995G>C | CA381616430 | LRP5 | c.2173G>C (p.Val725Leu) c.*779G>C (n.*779G>C) c.430G>C (p.Val144Leu) c.2200G>C (p.Val734Leu) n.2215G>C | |
11 | g.68409995G= | CA1980594619 | LRP5 | c.2173G= (p.Val725=) c.*779G= (n.*779G=) c.430G= (p.Val144=) c.2200G= (p.Val734=) n.2215G= | |
11 | g.68409995G>T | CA381616431 | LRP5 | c.2173G>T (p.Val725Phe) c.*779G>T (n.*779G>T) c.430G>T (p.Val144Phe) c.2200G>T (p.Val734Phe) n.2215G>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68409996T>A | CA381616433 | LRP5 | c.2174T>A (p.Val725Asp) c.*780T>A (n.*780T>A) c.431T>A (p.Val144Asp) c.2201T>A (p.Val734Asp) n.2216T>A | |
11 | g.68409996T>C | CA381616434 | LRP5 | c.2174T>C (p.Val725Ala) c.*780T>C (n.*780T>C) c.431T>C (p.Val144Ala) c.2201T>C (p.Val734Ala) n.2216T>C | |
11 | g.68409996T>G | CA381616432 | LRP5 | c.2174T>G (p.Val725Gly) c.*780T>G (n.*780T>G) c.431T>G (p.Val144Gly) c.2201T>G (p.Val734Gly) n.2216T>G | |
11 | g.68409997T>A | CA475463068 | LRP5 | c.2175T>A (p.Val725=) c.*781T>A (n.*781T>A) c.432T>A (p.Val144=) c.2202T>A (p.Val734=) n.2217T>A | |
11 | g.68409997T>C | CA6149555 | LRP5 | c.2175T>C (p.Val725=) c.*781T>C (n.*781T>C) c.432T>C (p.Val144=) c.2202T>C (p.Val734=) n.2217T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68409997T>G | CA475463067 | LRP5 | c.2175T>G (p.Val725=) c.*781T>G (n.*781T>G) c.432T>G (p.Val144=) c.2202T>G (p.Val734=) n.2217T>G | |
11 | g.68409997T= | CA1980594622 | LRP5 | c.2175T= (p.Val725=) c.*781T= (n.*781T=) c.432T= (p.Val144=) c.2202T= (p.Val734=) n.2217T= | |
11 | g.68409998G>A | CA381616435 | LRP5 | c.2176G>A (p.Asp726Asn) c.*782G>A (n.*782G>A) c.433G>A (p.Asp145Asn) c.2203G>A (p.Asp735Asn) n.2218G>A | |
11 | g.68409998G>C | CA381616436 | LRP5 | c.2176G>C (p.Asp726His) c.*782G>C (n.*782G>C) c.433G>C (p.Asp145His) c.2203G>C (p.Asp735His) n.2218G>C | |
11 | g.68409998G>T | CA381616437 | LRP5 | c.2176G>T (p.Asp726Tyr) c.*782G>T (n.*782G>T) c.433G>T (p.Asp145Tyr) c.2203G>T (p.Asp735Tyr) n.2218G>T | |
11 | g.68409999A>C | CA381616438 | LRP5 | c.2177A>C (p.Asp726Ala) c.*783A>C (n.*783A>C) c.434A>C (p.Asp145Ala) c.2204A>C (p.Asp735Ala) n.2219A>C | |
11 | g.68409999A>G | CA381616439 | LRP5 | c.2177A>G (p.Asp726Gly) c.*783A>G (n.*783A>G) c.434A>G (p.Asp145Gly) c.2204A>G (p.Asp735Gly) n.2219A>G | |
11 | g.68409999A>T | CA381616440 | LRP5 | c.2177A>T (p.Asp726Val) c.*783A>T (n.*783A>T) c.434A>T (p.Asp145Val) c.2204A>T (p.Asp735Val) n.2219A>T | |
11 | g.68410000C>A | CA381616441 | LRP5 | c.2178C>A (p.Asp726Glu) c.*784C>A (n.*784C>A) c.435C>A (p.Asp145Glu) c.2205C>A (p.Asp735Glu) n.2220C>A | |
11 | g.68410000C= | CA1980594626 | LRP5 | c.2178C= (p.Asp726=) c.*784C= (n.*784C=) c.435C= (p.Asp145=) c.2205C= (p.Asp735=) n.2220C= | |
11 | g.68410000C>G | CA381616442 | LRP5 | c.2178C>G (p.Asp726Glu) c.*784C>G (n.*784C>G) c.435C>G (p.Asp145Glu) c.2205C>G (p.Asp735Glu) n.2220C>G | |
11 | g.68410000C>T | CA475463070 | LRP5 | c.2178C>T (p.Asp726=) c.*784C>T (n.*784C>T) c.435C>T (p.Asp145=) c.2205C>T (p.Asp735=) n.2220C>T | dbSNP gnomAD v4 |
11 | g.68410001T>A | CA381616443 | LRP5 | c.2179T>A (p.Trp727Arg) c.*785T>A (n.*785T>A) c.436T>A (p.Trp146Arg) c.2206T>A (p.Trp736Arg) n.2221T>A | |
11 | g.68410001T>C | CA381616444 | LRP5 | c.2179T>C (p.Trp727Arg) c.*785T>C (n.*785T>C) c.436T>C (p.Trp146Arg) c.2206T>C (p.Trp736Arg) n.2221T>C | |
11 | g.68410001T>G | CA381616445 | LRP5 | c.2179T>G (p.Trp727Gly) c.*785T>G (n.*785T>G) c.436T>G (p.Trp146Gly) c.2206T>G (p.Trp736Gly) n.2221T>G | |
11 | g.68410002G>A | CA381616448 | LRP5 | c.2180G>A (p.Trp727Ter) c.*786G>A (n.*786G>A) c.437G>A (p.Trp146Ter) c.2207G>A (p.Trp736Ter) n.2222G>A | |
11 | g.68410002G>C | CA381616446 | LRP5 | c.2180G>C (p.Trp727Ser) c.*786G>C (n.*786G>C) c.437G>C (p.Trp146Ser) c.2207G>C (p.Trp736Ser) n.2222G>C | |
11 | g.68410002G>T | CA381616447 | LRP5 | c.2180G>T (p.Trp727Leu) c.*786G>T (n.*786G>T) c.437G>T (p.Trp146Leu) c.2207G>T (p.Trp736Leu) n.2222G>T | |
11 | g.68410003G>A | CA381616449 | LRP5 | c.2181G>A (p.Trp727Ter) c.*787G>A (n.*787G>A) c.438G>A (p.Trp146Ter) c.2208G>A (p.Trp736Ter) n.2223G>A | |
11 | g.68410003G>C | CA381616450 | LRP5 | c.2181G>C (p.Trp727Cys) c.*787G>C (n.*787G>C) c.438G>C (p.Trp146Cys) c.2208G>C (p.Trp736Cys) n.2223G>C | |
11 | g.68410003G= | CA1980594628 | LRP5 | c.2181G= (p.Trp727=) c.*787G= (n.*787G=) c.438G= (p.Trp146=) c.2208G= (p.Trp736=) n.2223G= | |
11 | g.68410003G>T | CA6149556 | LRP5 | c.2181G>T (p.Trp727Cys) c.*787G>T (n.*787G>T) c.438G>T (p.Trp146Cys) c.2208G>T (p.Trp736Cys) n.2223G>T | dbSNP ExAC |
11 | g.68410004A= | CA1980594631 | LRP5 | c.2182A= (p.Met728=) c.*788A= (n.*788A=) c.439A= (p.Met147=) c.2209A= (p.Met737=) n.2224A= | |
11 | g.68410004A>C | CA381616451 | LRP5 | c.2182A>C (p.Met728Leu) c.*788A>C (n.*788A>C) c.439A>C (p.Met147Leu) c.2209A>C (p.Met737Leu) n.2224A>C | |
11 | g.68410004A>G | CA381616452 | LRP5 | c.2182A>G (p.Met728Val) c.*788A>G (n.*788A>G) c.439A>G (p.Met147Val) c.2209A>G (p.Met737Val) n.2224A>G | |
11 | g.68410004A>T | CA6149557 | LRP5 | c.2182A>T (p.Met728Leu) c.*788A>T (n.*788A>T) c.439A>T (p.Met147Leu) c.2209A>T (p.Met737Leu) n.2224A>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410005T>A | CA381616453 | LRP5 | c.2183T>A (p.Met728Lys) c.*789T>A (n.*789T>A) c.440T>A (p.Met147Lys) c.2210T>A (p.Met737Lys) n.2225T>A | |
11 | g.68410005T>C | CA381616454 | LRP5 | c.2183T>C (p.Met728Thr) c.*789T>C (n.*789T>C) c.440T>C (p.Met147Thr) c.2210T>C (p.Met737Thr) n.2225T>C | |
11 | g.68410005T>G | CA381616455 | LRP5 | c.2183T>G (p.Met728Arg) c.*789T>G (n.*789T>G) c.440T>G (p.Met147Arg) c.2210T>G (p.Met737Arg) n.2225T>G | |
11 | g.68410006G>A | CA381616456 | LRP5 | c.2184G>A (p.Met728Ile) c.*790G>A (n.*790G>A) c.441G>A (p.Met147Ile) c.2211G>A (p.Met737Ile) n.2226G>A | |
11 | g.68410006G>C | CA381616457 | LRP5 | c.2184G>C (p.Met728Ile) c.*790G>C (n.*790G>C) c.441G>C (p.Met147Ile) c.2211G>C (p.Met737Ile) n.2226G>C | |
11 | g.68410006G>T | CA381616458 | LRP5 | c.2184G>T (p.Met728Ile) c.*790G>T (n.*790G>T) c.441G>T (p.Met147Ile) c.2211G>T (p.Met737Ile) n.2226G>T | |
11 | g.68410007G>A | CA381616460 | LRP5 | c.2185G>A (p.Gly729Ser) c.*791G>A (n.*791G>A) c.442G>A (p.Gly148Ser) c.2212G>A (p.Gly738Ser) n.2227G>A | gnomAD v4 |
11 | g.68410007G>C | CA381616461 | LRP5 | c.2185G>C (p.Gly729Arg) c.*791G>C (n.*791G>C) c.442G>C (p.Gly148Arg) c.2212G>C (p.Gly738Arg) n.2227G>C | |
11 | g.68410007G>T | CA381616459 | LRP5 | c.2185G>T (p.Gly729Cys) c.*791G>T (n.*791G>T) c.442G>T (p.Gly148Cys) c.2212G>T (p.Gly738Cys) n.2227G>T | |
11 | g.68410008G>A | CA381616464 | LRP5 | c.2186G>A (p.Gly729Asp) c.*792G>A (n.*792G>A) c.443G>A (p.Gly148Asp) c.2213G>A (p.Gly738Asp) n.2228G>A | |
11 | g.68410008G>C | CA381616462 | LRP5 | c.2186G>C (p.Gly729Ala) c.*792G>C (n.*792G>C) c.443G>C (p.Gly148Ala) c.2213G>C (p.Gly738Ala) n.2228G>C | |
11 | g.68410008G>T | CA381616463 | LRP5 | c.2186G>T (p.Gly729Val) c.*792G>T (n.*792G>T) c.443G>T (p.Gly148Val) c.2213G>T (p.Gly738Val) n.2228G>T | |
11 | g.68410009C>A | CA475463073 | LRP5 | c.2187C>A (p.Gly729=) c.*793C>A (n.*793C>A) c.444C>A (p.Gly148=) c.2214C>A (p.Gly738=) n.2229C>A | |
11 | g.68410009C= | CA1980594635 | LRP5 | c.2187C= (p.Gly729=) c.*793C= (n.*793C=) c.444C= (p.Gly148=) c.2214C= (p.Gly738=) n.2229C= | |
11 | g.68410009C>G | CA475463075 | LRP5 | c.2187C>G (p.Gly729=) c.*793C>G (n.*793C>G) c.444C>G (p.Gly148=) c.2214C>G (p.Gly738=) n.2229C>G | dbSNP |
11 | g.68410009C>T | CA475463074 | LRP5 | c.2187C>T (p.Gly729=) c.*793C>T (n.*793C>T) c.444C>T (p.Gly148=) c.2214C>T (p.Gly738=) n.2229C>T | |
11 | g.68410010A>C | CA381616465 | LRP5 | c.2188A>C (p.Lys730Gln) c.*794A>C (n.*794A>C) c.445A>C (p.Lys149Gln) c.2215A>C (p.Lys739Gln) n.2230A>C | |
11 | g.68410010A>G | CA381616466 | LRP5 | c.2188A>G (p.Lys730Glu) c.*794A>G (n.*794A>G) c.445A>G (p.Lys149Glu) c.2215A>G (p.Lys739Glu) n.2230A>G | |
11 | g.68410010A>T | CA381616467 | LRP5 | c.2188A>T (p.Lys730Ter) c.*794A>T (n.*794A>T) c.445A>T (p.Lys149Ter) c.2215A>T (p.Lys739Ter) n.2230A>T | |
11 | g.68410011A>C | CA381616468 | LRP5 | c.2189A>C (p.Lys730Thr) c.*795A>C (n.*795A>C) c.446A>C (p.Lys149Thr) c.2216A>C (p.Lys739Thr) n.2231A>C | |
11 | g.68410011A>G | CA381616469 | LRP5 | c.2189A>G (p.Lys730Arg) c.*795A>G (n.*795A>G) c.446A>G (p.Lys149Arg) c.2216A>G (p.Lys739Arg) n.2231A>G | |
11 | g.68410011A>T | CA381616470 | LRP5 | c.2189A>T (p.Lys730Met) c.*795A>T (n.*795A>T) c.446A>T (p.Lys149Met) c.2216A>T (p.Lys739Met) n.2231A>T | |
11 | g.68410012G>A | CA475463076 | LRP5 | c.2190G>A (p.Lys730=) c.*796G>A (n.*796G>A) c.447G>A (p.Lys149=) c.2217G>A (p.Lys739=) n.2232G>A | |
11 | g.68410012G>C | CA6149558 | LRP5 | c.2190G>C (p.Lys730Asn) c.*796G>C (n.*796G>C) c.447G>C (p.Lys149Asn) c.2217G>C (p.Lys739Asn) n.2232G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410012G= | CA1980594639 | LRP5 | c.2190G= (p.Lys730=) c.*796G= (n.*796G=) c.447G= (p.Lys149=) c.2217G= (p.Lys739=) n.2232G= | |
11 | g.68410012G>T | CA381616471 | LRP5 | c.2190G>T (p.Lys730Asn) c.*796G>T (n.*796G>T) c.447G>T (p.Lys149Asn) c.2217G>T (p.Lys739Asn) n.2232G>T | |
11 | g.68410013A>C | CA381616472 | LRP5 | c.2191A>C (p.Asn731His) c.*797A>C (n.*797A>C) c.448A>C (p.Asn150His) c.2218A>C (p.Asn740His) n.2233A>C | |
11 | g.68410013A>G | CA381616473 | LRP5 | c.2191A>G (p.Asn731Asp) c.*797A>G (n.*797A>G) c.448A>G (p.Asn150Asp) c.2218A>G (p.Asn740Asp) n.2233A>G | |
11 | g.68410013A>T | CA381616474 | LRP5 | c.2191A>T (p.Asn731Tyr) c.*797A>T (n.*797A>T) c.448A>T (p.Asn150Tyr) c.2218A>T (p.Asn740Tyr) n.2233A>T | |
11 | g.68410014A>C | CA381616477 | LRP5 | c.2192A>C (p.Asn731Thr) c.*798A>C (n.*798A>C) c.449A>C (p.Asn150Thr) c.2219A>C (p.Asn740Thr) n.2234A>C | |
11 | g.68410014A>G | CA381616475 | LRP5 | c.2192A>G (p.Asn731Ser) c.*798A>G (n.*798A>G) c.449A>G (p.Asn150Ser) c.2219A>G (p.Asn740Ser) n.2234A>G | |
11 | g.68410014A>T | CA381616476 | LRP5 | c.2192A>T (p.Asn731Ile) c.*798A>T (n.*798A>T) c.449A>T (p.Asn150Ile) c.2219A>T (p.Asn740Ile) n.2234A>T | |
11 | g.68410015C>A | CA381616478 | LRP5 | c.2193C>A (p.Asn731Lys) c.*799C>A (n.*799C>A) c.450C>A (p.Asn150Lys) c.2220C>A (p.Asn740Lys) n.2235C>A | |
11 | g.68410015C= | CA1980594643 | LRP5 | c.2193C= (p.Asn731=) c.*799C= (n.*799C=) c.450C= (p.Asn150=) c.2220C= (p.Asn740=) n.2235C= | |
11 | g.68410015C>G | CA381616479 | LRP5 | c.2193C>G (p.Asn731Lys) c.*799C>G (n.*799C>G) c.450C>G (p.Asn150Lys) c.2220C>G (p.Asn740Lys) n.2235C>G | |
11 | g.68410015C>T | CA239210 | LRP5 | c.2193C>T (p.Asn731=) c.*799C>T (n.*799C>T) c.450C>T (p.Asn150=) c.2220C>T (p.Asn740=) n.2235C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410016C>A | CA381616480 | LRP5 | c.2194C>A (p.Leu732Ile) c.*800C>A (n.*800C>A) c.451C>A (p.Leu151Ile) c.2221C>A (p.Leu741Ile) n.2236C>A | COSMIC |
11 | g.68410016C= | CA1980594648 | LRP5 | c.2194C= (p.Leu732=) c.*800C= (n.*800C=) c.451C= (p.Leu151=) c.2221C= (p.Leu741=) n.2236C= | |
11 | g.68410016C>G | CA381616481 | LRP5 | c.2194C>G (p.Leu732Val) c.*800C>G (n.*800C>G) c.451C>G (p.Leu151Val) c.2221C>G (p.Leu741Val) n.2236C>G | |
11 | g.68410016C>T | CA224270090 | LRP5 | c.2194C>T (p.Leu732Phe) c.*800C>T (n.*800C>T) c.451C>T (p.Leu151Phe) c.2221C>T (p.Leu741Phe) n.2236C>T | dbSNP |
11 | g.68410017T>A | CA381616482 | LRP5 | c.2195T>A (p.Leu732His) c.*801T>A (n.*801T>A) c.452T>A (p.Leu151His) c.2222T>A (p.Leu741His) n.2237T>A | |
11 | g.68410017T>C | CA381616483 | LRP5 | c.2195T>C (p.Leu732Pro) c.*801T>C (n.*801T>C) c.452T>C (p.Leu151Pro) c.2222T>C (p.Leu741Pro) n.2237T>C | |
11 | g.68410017T>G | CA381616484 | LRP5 | c.2195T>G (p.Leu732Arg) c.*801T>G (n.*801T>G) c.452T>G (p.Leu151Arg) c.2222T>G (p.Leu741Arg) n.2237T>G | |
11 | g.68410018C>A | CA475463080 | LRP5 | c.2196C>A (p.Leu732=) c.*802C>A (n.*802C>A) c.453C>A (p.Leu151=) c.2223C>A (p.Leu741=) n.2238C>A | |
11 | g.68410018C= | CA1980594652 | LRP5 | c.2196C= (p.Leu732=) c.*802C= (n.*802C=) c.453C= (p.Leu151=) c.2223C= (p.Leu741=) n.2238C= | |
11 | g.68410018C>G | CA475463078 | LRP5 | c.2196C>G (p.Leu732=) c.*802C>G (n.*802C>G) c.453C>G (p.Leu151=) c.2223C>G (p.Leu741=) n.2238C>G | |
11 | g.68410018C>T | CA475463079 | LRP5 | c.2196C>T (p.Leu732=) c.*802C>T (n.*802C>T) c.453C>T (p.Leu151=) c.2223C>T (p.Leu741=) n.2238C>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68410019T>A | CA381616485 | LRP5 | c.2197T>A (p.Tyr733Asn) c.*803T>A (n.*803T>A) c.454T>A (p.Tyr152Asn) c.2224T>A (p.Tyr742Asn) n.2239T>A | |
11 | g.68410019T>C | CA6149559 | LRP5 | c.2197T>C (p.Tyr733His) c.*803T>C (n.*803T>C) c.454T>C (p.Tyr152His) c.2224T>C (p.Tyr742His) n.2239T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68410019T>G | CA381616486 | LRP5 | c.2197T>G (p.Tyr733Asp) c.*803T>G (n.*803T>G) c.454T>G (p.Tyr152Asp) c.2224T>G (p.Tyr742Asp) n.2239T>G | |
11 | g.68410019T= | CA1980594658 | LRP5 | c.2197T= (p.Tyr733=) c.*803T= (n.*803T=) c.454T= (p.Tyr152=) c.2224T= (p.Tyr742=) n.2239T= | |
11 | g.68410020A>C | CA381616488 | LRP5 | c.2198A>C (p.Tyr733Ser) c.*804A>C (n.*804A>C) c.455A>C (p.Tyr152Ser) c.2225A>C (p.Tyr742Ser) n.2240A>C | |
11 | g.68410020A>G | CA381616489 | LRP5 | c.2198A>G (p.Tyr733Cys) c.*804A>G (n.*804A>G) c.455A>G (p.Tyr152Cys) c.2225A>G (p.Tyr742Cys) n.2240A>G | |
11 | g.68410020A>T | CA381616487 | LRP5 | c.2198A>T (p.Tyr733Phe) c.*804A>T (n.*804A>T) c.455A>T (p.Tyr152Phe) c.2225A>T (p.Tyr742Phe) n.2240A>T | |
11 | g.68410021C>A | CA381616490 | LRP5 | c.2199C>A (p.Tyr733Ter) c.*805C>A (n.*805C>A) c.456C>A (p.Tyr152Ter) c.2226C>A (p.Tyr742Ter) n.2241C>A | |
11 | g.68410021C>G | CA381616491 | LRP5 | c.2199C>G (p.Tyr733Ter) c.*805C>G (n.*805C>G) c.456C>G (p.Tyr152Ter) c.2226C>G (p.Tyr742Ter) n.2241C>G | |
11 | g.68410021C>T | CA475463081 | LRP5 | c.2199C>T (p.Tyr733=) c.*805C>T (n.*805C>T) c.456C>T (p.Tyr152=) c.2226C>T (p.Tyr742=) n.2241C>T | gnomAD v4 |
11 | g.68410022T>A | CA381616492 | LRP5 | c.2200T>A (p.Trp734Arg) c.*806T>A (n.*806T>A) c.457T>A (p.Trp153Arg) c.2227T>A (p.Trp743Arg) n.2242T>A | |
11 | g.68410022T>C | CA381616493 | LRP5 | c.2200T>C (p.Trp734Arg) c.*806T>C (n.*806T>C) c.457T>C (p.Trp153Arg) c.2227T>C (p.Trp743Arg) n.2242T>C | |
11 | g.68410022T>G | CA381616494 | LRP5 | c.2200T>G (p.Trp734Gly) c.*806T>G (n.*806T>G) c.457T>G (p.Trp153Gly) c.2227T>G (p.Trp743Gly) n.2242T>G | |
11 | g.68410023G>A | CA381616495 | LRP5 | c.2201G>A (p.Trp734Ter) c.*807G>A (n.*807G>A) c.458G>A (p.Trp153Ter) c.2228G>A (p.Trp743Ter) n.2243G>A | |
11 | g.68410023G>C | CA381616496 | LRP5 | c.2201G>C (p.Trp734Ser) c.*807G>C (n.*807G>C) c.458G>C (p.Trp153Ser) c.2228G>C (p.Trp743Ser) n.2243G>C | |
11 | g.68410023G>T | CA381616497 | LRP5 | c.2201G>T (p.Trp734Leu) c.*807G>T (n.*807G>T) c.458G>T (p.Trp153Leu) c.2228G>T (p.Trp743Leu) n.2243G>T | |
11 | g.68410024G>A | CA118093 | LRP5 | c.2202G>A (p.Trp734Ter) c.*808G>A (n.*808G>A) c.459G>A (p.Trp153Ter) c.2229G>A (p.Trp743Ter) n.2244G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410024G>C | CA381616498 | LRP5 | c.2202G>C (p.Trp734Cys) c.*808G>C (n.*808G>C) c.459G>C (p.Trp153Cys) c.2229G>C (p.Trp743Cys) n.2244G>C | |
11 | g.68410024G= | CA1980594660 | LRP5 | c.2202G= (p.Trp734=) c.*808G= (n.*808G=) c.459G= (p.Trp153=) c.2229G= (p.Trp743=) n.2244G= | |
11 | g.68410024G>T | CA381616499 | LRP5 | c.2202G>T (p.Trp734Cys) c.*808G>T (n.*808G>T) c.459G>T (p.Trp153Cys) c.2229G>T (p.Trp743Cys) n.2244G>T | |
11 | g.68410025G>A | CA381616500 | LRP5 | c.2203G>A (p.Ala735Thr) c.*809G>A (n.*809G>A) c.460G>A (p.Ala154Thr) c.2230G>A (p.Ala744Thr) n.2245G>A | |
11 | g.68410025G>C | CA381616501 | LRP5 | c.2203G>C (p.Ala735Pro) c.*809G>C (n.*809G>C) c.460G>C (p.Ala154Pro) c.2230G>C (p.Ala744Pro) n.2245G>C | |
11 | g.68410025G>T | CA381616502 | LRP5 | c.2203G>T (p.Ala735Ser) c.*809G>T (n.*809G>T) c.460G>T (p.Ala154Ser) c.2230G>T (p.Ala744Ser) n.2245G>T | |
11 | g.68410026C>A | CA381616505 | LRP5 | c.2204C>A (p.Ala735Asp) c.*810C>A (n.*810C>A) c.461C>A (p.Ala154Asp) c.2231C>A (p.Ala744Asp) n.2246C>A | |
11 | g.68410026C>G | CA381616504 | LRP5 | c.2204C>G (p.Ala735Gly) c.*810C>G (n.*810C>G) c.461C>G (p.Ala154Gly) c.2231C>G (p.Ala744Gly) n.2246C>G | |
11 | g.68410026C>T | CA381616503 | LRP5 | c.2204C>T (p.Ala735Val) c.*810C>T (n.*810C>T) c.461C>T (p.Ala154Val) c.2231C>T (p.Ala744Val) n.2246C>T | COSMIC |
11 | g.68410027C>A | CA475463082 | LRP5 | c.2205C>A (p.Ala735=) c.*811C>A (n.*811C>A) c.462C>A (p.Ala154=) c.2232C>A (p.Ala744=) n.2247C>A | gnomAD v4 |
11 | g.68410027C= | CA1980594664 | LRP5 | c.2205C= (p.Ala735=) c.*811C= (n.*811C=) c.462C= (p.Ala154=) c.2232C= (p.Ala744=) n.2247C= | |
11 | g.68410027C>G | CA6149560 | LRP5 | c.2205C>G (p.Ala735=) c.*811C>G (n.*811C>G) c.462C>G (p.Ala154=) c.2232C>G (p.Ala744=) n.2247C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68410027C>T | CA475463083 | LRP5 | c.2205C>T (p.Ala735=) c.*811C>T (n.*811C>T) c.462C>T (p.Ala154=) c.2232C>T (p.Ala744=) n.2247C>T | dbSNP COSMIC |
11 | g.68410028G>A | CA6149561 | LRP5 | c.2206G>A (p.Asp736Asn) c.*812G>A (n.*812G>A) c.463G>A (p.Asp155Asn) c.2233G>A (p.Asp745Asn) n.2248G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68410028G>C | CA381616506 | LRP5 | c.2206G>C (p.Asp736His) c.*812G>C (n.*812G>C) c.463G>C (p.Asp155His) c.2233G>C (p.Asp745His) n.2248G>C | ClinVar dbSNP |
11 | g.68410028G= | CA1980594667 | LRP5 | c.2206G= (p.Asp736=) c.*812G= (n.*812G=) c.463G= (p.Asp155=) c.2233G= (p.Asp745=) n.2248G= | |
11 | g.68410028G>T | CA381616507 | LRP5 | c.2206G>T (p.Asp736Tyr) c.*812G>T (n.*812G>T) c.463G>T (p.Asp155Tyr) c.2233G>T (p.Asp745Tyr) n.2248G>T | |
11 | g.68410029A>C | CA381616508 | LRP5 | c.2207A>C (p.Asp736Ala) n.1A>C c.*813A>C (n.*813A>C) c.464A>C (p.Asp155Ala) c.2234A>C (p.Asp745Ala) n.2249A>C | |
11 | g.68410029A>G | CA381616509 | LRP5 | c.2207A>G (p.Asp736Gly) n.1A>G c.*813A>G (n.*813A>G) c.464A>G (p.Asp155Gly) c.2234A>G (p.Asp745Gly) n.2249A>G | |
11 | g.68410029A>T | CA381616510 | LRP5 | c.2207A>T (p.Asp736Val) n.1A>T c.*813A>T (n.*813A>T) c.464A>T (p.Asp155Val) c.2234A>T (p.Asp745Val) n.2249A>T | |
11 | g.68410030C>A | CA381616511 | LRP5 | c.2208C>A (p.Asp736Glu) n.2C>A c.*814C>A (n.*814C>A) c.465C>A (p.Asp155Glu) c.2235C>A (p.Asp745Glu) n.2250C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410030C= | CA1980594671 | LRP5 | c.2208C= (p.Asp736=) n.2C= c.*814C= (n.*814C=) c.465C= (p.Asp155=) c.2235C= (p.Asp745=) n.2250C= | |
11 | g.68410030C>G | CA381616512 | LRP5 | c.2208C>G (p.Asp736Glu) n.2C>G c.*814C>G (n.*814C>G) c.465C>G (p.Asp155Glu) c.2235C>G (p.Asp745Glu) n.2250C>G | |
11 | g.68410030C>T | CA6149562 | LRP5 | c.2208C>T (p.Asp736=) n.2C>T c.*814C>T (n.*814C>T) c.465C>T (p.Asp155=) c.2235C>T (p.Asp745=) n.2250C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68410031A>C | CA381616513 | LRP5 | c.2209A>C (p.Thr737Pro) n.3A>C c.*815A>C (n.*815A>C) c.466A>C (p.Thr156Pro) c.2236A>C (p.Thr746Pro) n.2251A>C | |
11 | g.68410031A>G | CA381616514 | LRP5 | c.2209A>G (p.Thr737Ala) n.3A>G c.*815A>G (n.*815A>G) c.466A>G (p.Thr156Ala) c.2236A>G (p.Thr746Ala) n.2251A>G | |
11 | g.68410031A>T | CA381616515 | LRP5 | c.2209A>T (p.Thr737Ser) n.3A>T c.*815A>T (n.*815A>T) c.466A>T (p.Thr156Ser) c.2236A>T (p.Thr746Ser) n.2251A>T | |
11 | g.68410032C>A | CA381616518 | LRP5 | c.2210C>A (p.Thr737Asn) n.4C>A c.*816C>A (n.*816C>A) c.467C>A (p.Thr156Asn) c.2237C>A (p.Thr746Asn) n.2252C>A | |
11 | g.68410032C>G | CA381616517 | LRP5 | c.2210C>G (p.Thr737Ser) n.4C>G c.*816C>G (n.*816C>G) c.467C>G (p.Thr156Ser) c.2237C>G (p.Thr746Ser) n.2252C>G | |
11 | g.68410032C>T | CA381616516 | LRP5 | c.2210C>T (p.Thr737Ile) n.4C>T c.*816C>T (n.*816C>T) c.467C>T (p.Thr156Ile) c.2237C>T (p.Thr746Ile) n.2252C>T | |
11 | g.68410033T>A | CA475463084 | LRP5 | c.2211T>A (p.Thr737=) n.5T>A c.*817T>A (n.*817T>A) c.468T>A (p.Thr156=) c.2238T>A (p.Thr746=) n.2253T>A | |
11 | g.68410033T>C | CA475463085 | LRP5 | c.2211T>C (p.Thr737=) n.5T>C c.*817T>C (n.*817T>C) c.468T>C (p.Thr156=) c.2238T>C (p.Thr746=) n.2253T>C | |
11 | g.68410033T>G | CA475463086 | LRP5 | c.2211T>G (p.Thr737=) n.5T>G c.*817T>G (n.*817T>G) c.468T>G (p.Thr156=) c.2238T>G (p.Thr746=) n.2253T>G | |
11 | g.68410034G>A | CA381616519 | LRP5 | c.2212G>A (p.Gly738Arg) n.6G>A c.*818G>A (n.*818G>A) c.469G>A (p.Gly157Arg) c.2239G>A (p.Gly747Arg) n.2254G>A | ClinVar |
11 | g.68410034G>C | CA381616521 | LRP5 | c.2212G>C (p.Gly738Arg) n.6G>C c.*818G>C (n.*818G>C) c.469G>C (p.Gly157Arg) c.2239G>C (p.Gly747Arg) n.2254G>C | |
11 | g.68410034G>T | CA381616520 | LRP5 | c.2212G>T (p.Gly738Trp) n.6G>T c.*818G>T (n.*818G>T) c.469G>T (p.Gly157Trp) c.2239G>T (p.Gly747Trp) n.2254G>T | |
11 | g.68410035G>A | CA381616522 | LRP5 | c.2213G>A (p.Gly738Glu) n.7G>A c.*819G>A (n.*819G>A) c.470G>A (p.Gly157Glu) c.2240G>A (p.Gly747Glu) n.2255G>A | COSMIC |
11 | g.68410035G>C | CA381616524 | LRP5 | c.2213G>C (p.Gly738Ala) n.7G>C c.*819G>C (n.*819G>C) c.470G>C (p.Gly157Ala) c.2240G>C (p.Gly747Ala) n.2255G>C | |
11 | g.68410035G>T | CA381616523 | LRP5 | c.2213G>T (p.Gly738Val) n.7G>T c.*819G>T (n.*819G>T) c.470G>T (p.Gly157Val) c.2240G>T (p.Gly747Val) n.2255G>T | |
11 | g.68410036G>A | CA475463087 | LRP5 | c.2214G>A (p.Gly738=) n.8G>A c.*820G>A (n.*820G>A) c.471G>A (p.Gly157=) c.2241G>A (p.Gly747=) n.2256G>A | |
11 | g.68410036G>C | CA475463088 | LRP5 | c.2214G>C (p.Gly738=) n.8G>C c.*820G>C (n.*820G>C) c.471G>C (p.Gly157=) c.2241G>C (p.Gly747=) n.2256G>C | |
11 | g.68410036G>T | CA475463089 | LRP5 | c.2214G>T (p.Gly738=) n.8G>T c.*820G>T (n.*820G>T) c.471G>T (p.Gly157=) c.2241G>T (p.Gly747=) n.2256G>T | |
11 | g.68410037A>C | CA381616525 | LRP5 | c.2215A>C (p.Thr739Pro) n.9A>C c.*821A>C (n.*821A>C) c.472A>C (p.Thr158Pro) c.2242A>C (p.Thr748Pro) n.2257A>C | |
11 | g.68410037A>G | CA381616527 | LRP5 | c.2215A>G (p.Thr739Ala) n.9A>G c.*821A>G (n.*821A>G) c.472A>G (p.Thr158Ala) c.2242A>G (p.Thr748Ala) n.2257A>G | |
11 | g.68410037A>T | CA381616526 | LRP5 | c.2215A>T (p.Thr739Ser) n.9A>T c.*821A>T (n.*821A>T) c.472A>T (p.Thr158Ser) c.2242A>T (p.Thr748Ser) n.2257A>T | |
11 | g.68410038C>A | CA381616528 | LRP5 | c.2216C>A (p.Thr739Asn) n.10C>A c.*822C>A (n.*822C>A) c.473C>A (p.Thr158Asn) c.2243C>A (p.Thr748Asn) n.2258C>A | |
11 | g.68410038C= | CA1980594675 | LRP5 | c.2216C= (p.Thr739=) n.10C= c.*822C= (n.*822C=) c.473C= (p.Thr158=) c.2243C= (p.Thr748=) n.2258C= | |
11 | g.68410038C>G | CA381616529 | LRP5 | c.2216C>G (p.Thr739Ser) n.10C>G c.*822C>G (n.*822C>G) c.473C>G (p.Thr158Ser) c.2243C>G (p.Thr748Ser) n.2258C>G | ClinVar dbSNP gnomAD v4 |
11 | g.68410038C>T | CA381616530 | LRP5 | c.2216C>T (p.Thr739Ile) n.10C>T c.*822C>T (n.*822C>T) c.473C>T (p.Thr158Ile) c.2243C>T (p.Thr748Ile) n.2258C>T | |
11 | g.68410039C>A | CA475463092 | LRP5 | c.2217C>A (p.Thr739=) n.11C>A c.*823C>A (n.*823C>A) c.474C>A (p.Thr158=) c.2244C>A (p.Thr748=) n.2259C>A | |
11 | g.68410039C= | CA1980594678 | LRP5 | c.2217C= (p.Thr739=) n.11C= c.*823C= (n.*823C=) c.474C= (p.Thr158=) c.2244C= (p.Thr748=) n.2259C= | |
11 | g.68410039C>G | CA475463091 | LRP5 | c.2217C>G (p.Thr739=) n.11C>G c.*823C>G (n.*823C>G) c.474C>G (p.Thr158=) c.2244C>G (p.Thr748=) n.2259C>G | |
11 | g.68410039C>T | CA475463090 | LRP5 | c.2217C>T (p.Thr739=) n.11C>T c.*823C>T (n.*823C>T) c.474C>T (p.Thr158=) c.2244C>T (p.Thr748=) n.2259C>T | dbSNP |
11 | g.68410040A>C | CA381616531 | LRP5 | c.2218A>C (p.Asn740His) n.12A>C c.*824A>C (n.*824A>C) c.475A>C (p.Asn159His) c.2245A>C (p.Asn749His) n.2260A>C | |
11 | g.68410040A>G | CA381616532 | LRP5 | c.2218A>G (p.Asn740Asp) n.12A>G c.*824A>G (n.*824A>G) c.475A>G (p.Asn159Asp) c.2245A>G (p.Asn749Asp) n.2260A>G | gnomAD v4 |
11 | g.68410040A>T | CA381616533 | LRP5 | c.2218A>T (p.Asn740Tyr) n.12A>T c.*824A>T (n.*824A>T) c.475A>T (p.Asn159Tyr) c.2245A>T (p.Asn749Tyr) n.2260A>T | |
11 | g.68410041A>C | CA381616534 | LRP5 | c.2219A>C (p.Asn740Thr) n.13A>C c.*825A>C (n.*825A>C) c.476A>C (p.Asn159Thr) c.2246A>C (p.Asn749Thr) n.2261A>C | |
11 | g.68410041A>G | CA381616535 | LRP5 | c.2219A>G (p.Asn740Ser) n.13A>G c.*825A>G (n.*825A>G) c.476A>G (p.Asn159Ser) c.2246A>G (p.Asn749Ser) n.2261A>G | |
11 | g.68410041A>T | CA381616536 | LRP5 | c.2219A>T (p.Asn740Ile) n.13A>T c.*825A>T (n.*825A>T) c.476A>T (p.Asn159Ile) c.2246A>T (p.Asn749Ile) n.2261A>T | |
11 | g.68410042C>A | CA381616537 | LRP5 | c.2220C>A (p.Asn740Lys) n.14C>A c.*826C>A (n.*826C>A) c.477C>A (p.Asn159Lys) c.2247C>A (p.Asn749Lys) n.2262C>A | |
11 | g.68410042C= | CA1980594682 | LRP5 | c.2220C= (p.Asn740=) n.14C= c.*826C= (n.*826C=) c.477C= (p.Asn159=) c.2247C= (p.Asn749=) n.2262C= | |
11 | g.68410042C>G | CA381616538 | LRP5 | c.2220C>G (p.Asn740Lys) n.14C>G c.*826C>G (n.*826C>G) c.477C>G (p.Asn159Lys) c.2247C>G (p.Asn749Lys) n.2262C>G | |
11 | g.68410042C>T | CA200700 | LRP5 | c.2220C>T (p.Asn740=) n.14C>T c.*826C>T (n.*826C>T) c.477C>T (p.Asn159=) c.2247C>T (p.Asn749=) n.2262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410043A= | CA1980594684 | LRP5 | c.2221A= (p.Arg741=) n.15A= c.*827A= (n.*827A=) c.478A= (p.Arg160=) c.2248A= (p.Arg750=) n.2263A= | |
11 | g.68410043A>C | CA475463093 | LRP5 | c.2221A>C (p.Arg741=) n.15A>C c.*827A>C (n.*827A>C) c.478A>C (p.Arg160=) c.2248A>C (p.Arg750=) n.2263A>C | |
11 | g.68410043A>G | CA381616539 | LRP5 | c.2221A>G (p.Arg741Gly) n.15A>G c.*827A>G (n.*827A>G) c.478A>G (p.Arg160Gly) c.2248A>G (p.Arg750Gly) n.2263A>G | dbSNP |
11 | g.68410043A>T | CA381616540 | LRP5 | c.2221A>T (p.Arg741Ter) n.15A>T c.*827A>T (n.*827A>T) c.478A>T (p.Arg160Ter) c.2248A>T (p.Arg750Ter) n.2263A>T | |
11 | g.68410044G>A | CA381616541 | LRP5 | c.2222G>A (p.Arg741Lys) n.16G>A c.*828G>A (n.*828G>A) c.479G>A (p.Arg160Lys) c.2249G>A (p.Arg750Lys) n.2264G>A | |
11 | g.68410044G>C | CA381616542 | LRP5 | c.2222G>C (p.Arg741Thr) n.16G>C c.*828G>C (n.*828G>C) c.479G>C (p.Arg160Thr) c.2249G>C (p.Arg750Thr) n.2264G>C | |
11 | g.68410044G>T | CA381616543 | LRP5 | c.2222G>T (p.Arg741Ile) n.16G>T c.*828G>T (n.*828G>T) c.479G>T (p.Arg160Ile) c.2249G>T (p.Arg750Ile) n.2264G>T | |
11 | g.68410045A>C | CA381616544 | LRP5 | c.2223A>C (p.Arg741Ser) n.17A>C c.*829A>C (n.*829A>C) c.480A>C (p.Arg160Ser) c.2250A>C (p.Arg750Ser) n.2265A>C | |
11 | g.68410045A>G | CA475463094 | LRP5 | c.2223A>G (p.Arg741=) n.17A>G c.*829A>G (n.*829A>G) c.480A>G (p.Arg160=) c.2250A>G (p.Arg750=) n.2265A>G | |
11 | g.68410045A>T | CA381616545 | LRP5 | c.2223A>T (p.Arg741Ser) n.17A>T c.*829A>T (n.*829A>T) c.480A>T (p.Arg160Ser) c.2250A>T (p.Arg750Ser) n.2265A>T | |
11 | g.68410046A>C | CA381616546 | LRP5 | c.2224A>C (p.Ile742Leu) n.18A>C c.*830A>C (n.*830A>C) c.481A>C (p.Ile161Leu) c.2251A>C (p.Ile751Leu) n.2266A>C | |
11 | g.68410046A>G | CA381616547 | LRP5 | c.2224A>G (p.Ile742Val) n.18A>G c.*830A>G (n.*830A>G) c.481A>G (p.Ile161Val) c.2251A>G (p.Ile751Val) n.2266A>G | gnomAD v4 |
11 | g.68410046A>T | CA381616548 | LRP5 | c.2224A>T (p.Ile742Phe) n.18A>T c.*830A>T (n.*830A>T) c.481A>T (p.Ile161Phe) c.2251A>T (p.Ile751Phe) n.2266A>T | |
11 | g.68410047T>A | CA381616549 | LRP5 | c.2225T>A (p.Ile742Asn) n.19T>A c.*831T>A (n.*831T>A) c.482T>A (p.Ile161Asn) c.2252T>A (p.Ile751Asn) n.2267T>A | |
11 | g.68410047T>C | CA381616550 | LRP5 | c.2225T>C (p.Ile742Thr) n.19T>C c.*831T>C (n.*831T>C) c.482T>C (p.Ile161Thr) c.2252T>C (p.Ile751Thr) n.2267T>C | |
11 | g.68410047T>G | CA381616551 | LRP5 | c.2225T>G (p.Ile742Ser) n.19T>G c.*831T>G (n.*831T>G) c.482T>G (p.Ile161Ser) c.2252T>G (p.Ile751Ser) n.2267T>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410047T= | CA1980594687 | LRP5 | c.2225T= (p.Ile742=) n.19T= c.*831T= (n.*831T=) c.482T= (p.Ile161=) c.2252T= (p.Ile751=) n.2267T= | |
11 | g.68410048C>A | CA475463095 | LRP5 | c.2226C>A (p.Ile742=) n.20C>A c.*832C>A (n.*832C>A) c.483C>A (p.Ile161=) c.2253C>A (p.Ile751=) n.2268C>A | dbSNP |
11 | g.68410048C= | CA1980594691 | LRP5 | c.2226C= (p.Ile742=) n.20C= c.*832C= (n.*832C=) c.483C= (p.Ile161=) c.2253C= (p.Ile751=) n.2268C= | |
11 | g.68410048C>G | CA381616552 | LRP5 | c.2226C>G (p.Ile742Met) n.20C>G c.*832C>G (n.*832C>G) c.483C>G (p.Ile161Met) c.2253C>G (p.Ile751Met) n.2268C>G | gnomAD v4 |
11 | g.68410048C>T | CA6149563 | LRP5 | c.2226C>T (p.Ile742=) n.20C>T c.*832C>T (n.*832C>T) c.483C>T (p.Ile161=) c.2253C>T (p.Ile751=) n.2268C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410049G>A | CA381616555 | LRP5 | c.2227G>A (p.Glu743Lys) n.21G>A c.*833G>A (n.*833G>A) c.484G>A (p.Glu162Lys) c.2254G>A (p.Glu752Lys) n.2269G>A | ClinVar dbSNP gnomAD v4 |
11 | g.68410049G>C | CA381616553 | LRP5 | c.2227G>C (p.Glu743Gln) n.21G>C c.*833G>C (n.*833G>C) c.484G>C (p.Glu162Gln) c.2254G>C (p.Glu752Gln) n.2269G>C | |
11 | g.68410049G= | CA1980594699 | LRP5 | c.2227G= (p.Glu743=) n.21G= c.*833G= (n.*833G=) c.484G= (p.Glu162=) c.2254G= (p.Glu752=) n.2269G= | |
11 | g.68410049G>T | CA381616554 | LRP5 | c.2227G>T (p.Glu743Ter) n.21G>T c.*833G>T (n.*833G>T) c.484G>T (p.Glu162Ter) c.2254G>T (p.Glu752Ter) n.2269G>T | |
11 | g.68410050A>C | CA381616556 | LRP5 | c.2228A>C (p.Glu743Ala) n.22A>C c.*834A>C (n.*834A>C) c.485A>C (p.Glu162Ala) c.2255A>C (p.Glu752Ala) n.2270A>C | gnomAD v4 |
11 | g.68410050A>G | CA381616557 | LRP5 | c.2228A>G (p.Glu743Gly) n.22A>G c.*834A>G (n.*834A>G) c.485A>G (p.Glu162Gly) c.2255A>G (p.Glu752Gly) n.2270A>G | |
11 | g.68410050A>T | CA381616558 | LRP5 | c.2228A>T (p.Glu743Val) n.22A>T c.*834A>T (n.*834A>T) c.485A>T (p.Glu162Val) c.2255A>T (p.Glu752Val) n.2270A>T | |
11 | g.68410051A>C | CA381616559 | LRP5 | c.2229A>C (p.Glu743Asp) n.23A>C c.*835A>C (n.*835A>C) c.486A>C (p.Glu162Asp) c.2256A>C (p.Glu752Asp) n.2271A>C | |
11 | g.68410051A>G | CA475463096 | LRP5 | c.2229A>G (p.Glu743=) n.23A>G c.*835A>G (n.*835A>G) c.486A>G (p.Glu162=) c.2256A>G (p.Glu752=) n.2271A>G | |
11 | g.68410051A>T | CA381616560 | LRP5 | c.2229A>T (p.Glu743Asp) n.23A>T c.*835A>T (n.*835A>T) c.486A>T (p.Glu162Asp) c.2256A>T (p.Glu752Asp) n.2271A>T | |
11 | g.68410052G>A | CA381616563 | LRP5 | c.2230G>A (p.Val744Met) n.24G>A c.*836G>A (n.*836G>A) c.487G>A (p.Val163Met) c.2257G>A (p.Val753Met) n.2272G>A | |
11 | g.68410052G>C | CA381616562 | LRP5 | c.2230G>C (p.Val744Leu) n.24G>C c.*836G>C (n.*836G>C) c.487G>C (p.Val163Leu) c.2257G>C (p.Val753Leu) n.2272G>C | |
11 | g.68410052G>T | CA381616561 | LRP5 | c.2230G>T (p.Val744Leu) n.24G>T c.*836G>T (n.*836G>T) c.487G>T (p.Val163Leu) c.2257G>T (p.Val753Leu) n.2272G>T | |
11 | g.68410053T>A | CA381616564 | LRP5 | c.2231T>A (p.Val744Glu) n.25T>A c.*837T>A (n.*837T>A) c.488T>A (p.Val163Glu) c.2258T>A (p.Val753Glu) n.2273T>A | |
11 | g.68410053T>C | CA381616565 | LRP5 | c.2231T>C (p.Val744Ala) n.25T>C c.*837T>C (n.*837T>C) c.488T>C (p.Val163Ala) c.2258T>C (p.Val753Ala) n.2273T>C | gnomAD v4 |
11 | g.68410053T>G | CA381616566 | LRP5 | c.2231T>G (p.Val744Gly) n.25T>G c.*837T>G (n.*837T>G) c.488T>G (p.Val163Gly) c.2258T>G (p.Val753Gly) n.2273T>G | |
11 | g.68410054G>A | CA475463097 | LRP5 | c.2232G>A (p.Val744=) n.26G>A c.*838G>A (n.*838G>A) c.489G>A (p.Val163=) c.2259G>A (p.Val753=) n.2274G>A | |
11 | g.68410054G>C | CA475463098 | LRP5 | c.2232G>C (p.Val744=) n.26G>C c.*838G>C (n.*838G>C) c.489G>C (p.Val163=) c.2259G>C (p.Val753=) n.2274G>C | |
11 | g.68410054G>T | CA475463099 | LRP5 | c.2232G>T (p.Val744=) n.26G>T c.*838G>T (n.*838G>T) c.489G>T (p.Val163=) c.2259G>T (p.Val753=) n.2274G>T | |
11 | g.68410055G>A | CA381616567 | LRP5 | c.2233G>A (p.Ala745Thr) n.27G>A c.*839G>A (n.*839G>A) c.490G>A (p.Ala164Thr) c.2260G>A (p.Ala754Thr) n.2275G>A | |
11 | g.68410055G>C | CA381616568 | LRP5 | c.2233G>C (p.Ala745Pro) n.27G>C c.*839G>C (n.*839G>C) c.490G>C (p.Ala164Pro) c.2260G>C (p.Ala754Pro) n.2275G>C | |
11 | g.68410055G= | CA1980594704 | LRP5 | c.2233G= (p.Ala745=) n.27G= c.*839G= (n.*839G=) c.490G= (p.Ala164=) c.2260G= (p.Ala754=) n.2275G= | |
11 | g.68410055G>T | CA6149564 | LRP5 | c.2233G>T (p.Ala745Ser) n.27G>T c.*839G>T (n.*839G>T) c.490G>T (p.Ala164Ser) c.2260G>T (p.Ala754Ser) n.2275G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.68410056C>A | CA381616570 | LRP5 | c.2234C>A (p.Ala745Glu) n.28C>A c.*840C>A (n.*840C>A) c.491C>A (p.Ala164Glu) c.2261C>A (p.Ala754Glu) n.2276C>A | dbSNP |
11 | g.68410056C= | CA1980594708 | LRP5 | c.2234C= (p.Ala745=) n.28C= c.*840C= (n.*840C=) c.491C= (p.Ala164=) c.2261C= (p.Ala754=) n.2276C= | |
11 | g.68410056C>G | CA381616569 | LRP5 | c.2234C>G (p.Ala745Gly) n.28C>G c.*840C>G (n.*840C>G) c.491C>G (p.Ala164Gly) c.2261C>G (p.Ala754Gly) n.2276C>G | |
11 | g.68410056C>T | CA6149565 | LRP5 | c.2234C>T (p.Ala745Val) n.28C>T c.*840C>T (n.*840C>T) c.491C>T (p.Ala164Val) c.2261C>T (p.Ala754Val) n.2276C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410057G>A | CA6149566 | LRP5 | c.2235G>A (p.Ala745=) n.29G>A c.*841G>A (n.*841G>A) c.492G>A (p.Ala164=) c.2262G>A (p.Ala754=) n.2277G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.68410057G>C | CA475463101 | LRP5 | c.2235G>C (p.Ala745=) n.29G>C c.*841G>C (n.*841G>C) c.492G>C (p.Ala164=) c.2262G>C (p.Ala754=) n.2277G>C | |
11 | g.68410057G= | CA1980594710 | LRP5 | c.2235G= (p.Ala745=) n.29G= c.*841G= (n.*841G=) c.492G= (p.Ala164=) c.2262G= (p.Ala754=) n.2277G= | |
11 | g.68410057G>T | CA475463100 | LRP5 | c.2235G>T (p.Ala745=) n.29G>T c.*841G>T (n.*841G>T) c.492G>T (p.Ala164=) c.2262G>T (p.Ala754=) n.2277G>T | |
11 | g.68410058C>A | CA475463102 | LRP5 | c.2236C>A (p.Arg746=) n.30C>A c.*842C>A (n.*842C>A) c.493C>A (p.Arg165=) c.2263C>A (p.Arg755=) n.2278C>A | |
11 | g.68410058C= | CA1980594713 | LRP5 | c.2236C= (p.Arg746=) n.30C= c.*842C= (n.*842C=) c.493C= (p.Arg165=) c.2263C= (p.Arg755=) n.2278C= | |
11 | g.68410058C>G | CA381616571 | LRP5 | c.2236C>G (p.Arg746Gly) n.30C>G c.*842C>G (n.*842C>G) c.493C>G (p.Arg165Gly) c.2263C>G (p.Arg755Gly) n.2278C>G | |
11 | g.68410058C>T | CA239212 | LRP5 | c.2236C>T (p.Arg746Trp) n.30C>T c.*842C>T (n.*842C>T) c.493C>T (p.Arg165Trp) c.2263C>T (p.Arg755Trp) n.2278C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410059G>A | CA6149567 | LRP5 | c.2237G>A (p.Arg746Gln) n.31G>A c.*843G>A (n.*843G>A) c.494G>A (p.Arg165Gln) c.2264G>A (p.Arg755Gln) n.2279G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410059G>C | CA381616572 | LRP5 | c.2237G>C (p.Arg746Pro) n.31G>C c.*843G>C (n.*843G>C) c.494G>C (p.Arg165Pro) c.2264G>C (p.Arg755Pro) n.2279G>C | |
11 | g.68410059G= | CA1980594715 | LRP5 | c.2237G= (p.Arg746=) n.31G= c.*843G= (n.*843G=) c.494G= (p.Arg165=) c.2264G= (p.Arg755=) n.2279G= | |
11 | g.68410059G>T | CA381616573 | LRP5 | c.2237G>T (p.Arg746Leu) n.31G>T c.*843G>T (n.*843G>T) c.494G>T (p.Arg165Leu) c.2264G>T (p.Arg755Leu) n.2279G>T | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68410060G>A | CA475463103 | LRP5 | c.2238G>A (p.Arg746=) n.32G>A c.*844G>A (n.*844G>A) c.495G>A (p.Arg165=) c.2265G>A (p.Arg755=) n.2280G>A | |
11 | g.68410060G>C | CA475463104 | LRP5 | c.2238G>C (p.Arg746=) n.32G>C c.*844G>C (n.*844G>C) c.495G>C (p.Arg165=) c.2265G>C (p.Arg755=) n.2280G>C | gnomAD v4 |
11 | g.68410060G>T | CA475463105 | LRP5 | c.2238G>T (p.Arg746=) n.32G>T c.*844G>T (n.*844G>T) c.495G>T (p.Arg165=) c.2265G>T (p.Arg755=) n.2280G>T | |
11 | g.68410061C>A | CA381616574 | LRP5 | c.2239C>A (p.Leu747Met) n.33C>A c.*845C>A (n.*845C>A) c.496C>A (p.Leu166Met) c.2266C>A (p.Leu756Met) n.2281C>A | |
11 | g.68410061C= | CA1980594718 | LRP5 | c.2239C= (p.Leu747=) n.33C= c.*845C= (n.*845C=) c.496C= (p.Leu166=) c.2266C= (p.Leu756=) n.2281C= | |
11 | g.68410061C>G | CA381616575 | LRP5 | c.2239C>G (p.Leu747Val) n.33C>G c.*845C>G (n.*845C>G) c.496C>G (p.Leu166Val) c.2266C>G (p.Leu756Val) n.2281C>G | ClinVar dbSNP |
11 | g.68410061C>T | CA475463106 | LRP5 | c.2239C>T (p.Leu747=) n.33C>T c.*845C>T (n.*845C>T) c.496C>T (p.Leu166=) c.2266C>T (p.Leu756=) n.2281C>T | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.68410062T>A | CA381616576 | LRP5 | c.2240T>A (p.Leu747Gln) n.34T>A c.*846T>A (n.*846T>A) c.497T>A (p.Leu166Gln) c.2267T>A (p.Leu756Gln) n.2282T>A | |
11 | g.68410062T>C | CA381616577 | LRP5 | c.2240T>C (p.Leu747Pro) n.34T>C c.*846T>C (n.*846T>C) c.497T>C (p.Leu166Pro) c.2267T>C (p.Leu756Pro) n.2282T>C | |
11 | g.68410062T>G | CA381616578 | LRP5 | c.2240T>G (p.Leu747Arg) n.34T>G c.*846T>G (n.*846T>G) c.497T>G (p.Leu166Arg) c.2267T>G (p.Leu756Arg) n.2282T>G | |
11 | g.68410063G>A | CA224270133 | LRP5 | c.2241G>A (p.Leu747=) n.35G>A c.*847G>A (n.*847G>A) c.498G>A (p.Leu166=) c.2268G>A (p.Leu756=) n.2283G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410063G>C | CA475463107 | LRP5 | c.2241G>C (p.Leu747=) n.35G>C c.*847G>C (n.*847G>C) c.498G>C (p.Leu166=) c.2268G>C (p.Leu756=) n.2283G>C | |
11 | g.68410063G= | CA1980594721 | LRP5 | c.2241G= (p.Leu747=) n.35G= c.*847G= (n.*847G=) c.498G= (p.Leu166=) c.2268G= (p.Leu756=) n.2283G= | |
11 | g.68410063G>T | CA475463108 | LRP5 | c.2241G>T (p.Leu747=) n.35G>T c.*847G>T (n.*847G>T) c.498G>T (p.Leu166=) c.2268G>T (p.Leu756=) n.2283G>T | |
11 | g.68410064G>A | CA224270138 | LRP5 | c.2242G>A (p.Asp748Asn) n.36G>A c.*848G>A (n.*848G>A) c.499G>A (p.Asp167Asn) c.2269G>A (p.Asp757Asn) n.2284G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410064G>C | CA381616580 | LRP5 | c.2242G>C (p.Asp748His) n.36G>C c.*848G>C (n.*848G>C) c.499G>C (p.Asp167His) c.2269G>C (p.Asp757His) n.2284G>C | |
11 | g.68410064G= | CA1980594723 | LRP5 | c.2242G= (p.Asp748=) n.36G= c.*848G= (n.*848G=) c.499G= (p.Asp167=) c.2269G= (p.Asp757=) n.2284G= | |
11 | g.68410064G>T | CA381616579 | LRP5 | c.2242G>T (p.Asp748Tyr) n.36G>T c.*848G>T (n.*848G>T) c.499G>T (p.Asp167Tyr) c.2269G>T (p.Asp757Tyr) n.2284G>T | |
11 | g.68410065A= | CA1980594727 | LRP5 | c.2243A= (p.Asp748=) n.37A= c.*849A= (n.*849A=) c.500A= (p.Asp167=) c.2270A= (p.Asp757=) n.2285A= | |
11 | g.68410065A>C | CA381616581 | LRP5 | c.2243A>C (p.Asp748Ala) n.37A>C c.*849A>C (n.*849A>C) c.500A>C (p.Asp167Ala) c.2270A>C (p.Asp757Ala) n.2285A>C | |
11 | g.68410065A>G | CA381616582 | LRP5 | c.2243A>G (p.Asp748Gly) n.37A>G c.*849A>G (n.*849A>G) c.500A>G (p.Asp167Gly) c.2270A>G (p.Asp757Gly) n.2285A>G | gnomAD v4 |
11 | g.68410065A>T | CA224270142 | LRP5 | c.2243A>T (p.Asp748Val) n.37A>T c.*849A>T (n.*849A>T) c.500A>T (p.Asp167Val) c.2270A>T (p.Asp757Val) n.2285A>T | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410066C>A | CA381616583 | LRP5 | c.2244C>A (p.Asp748Glu) n.38C>A c.*850C>A (n.*850C>A) c.501C>A (p.Asp167Glu) c.2271C>A (p.Asp757Glu) n.2286C>A | |
11 | g.68410066C= | CA1980594731 | LRP5 | c.2244C= (p.Asp748=) n.38C= c.*850C= (n.*850C=) c.501C= (p.Asp167=) c.2271C= (p.Asp757=) n.2286C= | |
11 | g.68410066C>G | CA381616584 | LRP5 | c.2244C>G (p.Asp748Glu) n.38C>G c.*850C>G (n.*850C>G) c.501C>G (p.Asp167Glu) c.2271C>G (p.Asp757Glu) n.2286C>G | |
11 | g.68410066C>T | CA6149568 | LRP5 | c.2244C>T (p.Asp748=) n.38C>T c.*850C>T (n.*850C>T) c.501C>T (p.Asp167=) c.2271C>T (p.Asp757=) n.2286C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.68410067G>A | CA381616587 | LRP5 | c.2245G>A (p.Gly749Arg) n.39G>A c.*851G>A (n.*851G>A) c.502G>A (p.Gly168Arg) c.2272G>A (p.Gly758Arg) n.2287G>A | dbSNP gnomAD v2 gnomAD v4 |
11 | g.68410067G>C | CA381616586 | LRP5 | c.2245G>C (p.Gly749Arg) n.39G>C c.*851G>C (n.*851G>C) c.502G>C (p.Gly168Arg) c.2272G>C (p.Gly758Arg) n.2287G>C | |
11 | g.68410067G= | CA1980594734 | LRP5 | c.2245G= (p.Gly749=) n.39G= c.*851G= (n.*851G=) c.502G= (p.Gly168=) c.2272G= (p.Gly758=) n.2287G= | |
11 | g.68410067G>T | CA381616585 | LRP5 | c.2245G>T (p.Gly749Trp) n.39G>T c.*851G>T (n.*851G>T) c.502G>T (p.Gly168Trp) c.2272G>T (p.Gly758Trp) n.2287G>T | |
11 | g.68410069del | CA2573147530 | LRP5 | c.2247del (p.Gln750SerfsTer?) n.41del c.*853del (n.*853del) c.504del (p.Gln169SerfsTer?) c.2274del (p.Gln759SerfsTer?) n.2289del | ClinVar dbSNP gnomAD v4 |
11 | g.68410068G>A | CA381616588 | LRP5 | c.2246G>A (p.Gly749Glu) n.40G>A c.*852G>A (n.*852G>A) c.503G>A (p.Gly168Glu) c.2273G>A (p.Gly758Glu) n.2288G>A | gnomAD v4 |
11 | g.68410068G>C | CA381616589 | LRP5 | c.2246G>C (p.Gly749Ala) n.40G>C c.*852G>C (n.*852G>C) c.503G>C (p.Gly168Ala) c.2273G>C (p.Gly758Ala) n.2288G>C | ClinVar |
11 | g.68410068G>T | CA381616590 | LRP5 | c.2246G>T (p.Gly749Val) n.40G>T c.*852G>T (n.*852G>T) c.503G>T (p.Gly168Val) c.2273G>T (p.Gly758Val) n.2288G>T | |
11 | g.68410069G>A | CA475463109 | LRP5 | c.2247G>A (p.Gly749=) n.41G>A c.*853G>A (n.*853G>A) c.504G>A (p.Gly168=) c.2274G>A (p.Gly758=) n.2289G>A | gnomAD v4 |
11 | g.68410069G>C | CA475463110 | LRP5 | c.2247G>C (p.Gly749=) n.41G>C c.*853G>C (n.*853G>C) c.504G>C (p.Gly168=) c.2274G>C (p.Gly758=) n.2289G>C | |
11 | g.68410069G>T | CA475463111 | LRP5 | c.2247G>T (p.Gly749=) n.41G>T c.*853G>T (n.*853G>T) c.504G>T (p.Gly168=) c.2274G>T (p.Gly758=) n.2289G>T | |
11 | g.68410070C>A | CA381616591 | LRP5 | c.2248C>A (p.Gln750Lys) n.42C>A c.*854C>A (n.*854C>A) c.505C>A (p.Gln169Lys) c.2275C>A (p.Gln759Lys) n.2290C>A | gnomAD v4 |
11 | g.68410070C>G | CA381616592 | LRP5 | c.2248C>G (p.Gln750Glu) n.42C>G c.*854C>G (n.*854C>G) c.505C>G (p.Gln169Glu) c.2275C>G (p.Gln759Glu) n.2290C>G | |
11 | g.68410070C>T | CA381616593 | LRP5 | c.2248C>T (p.Gln750Ter) n.42C>T c.*854C>T (n.*854C>T) c.505C>T (p.Gln169Ter) c.2275C>T (p.Gln759Ter) n.2290C>T | |
11 | g.68410071A= | CA1980594737 | LRP5 | c.2249A= (p.Gln750=) n.43A= c.*855A= (n.*855A=) c.506A= (p.Gln169=) c.2276A= (p.Gln759=) n.2291A= | |
11 | g.68410071A>C | CA381616594 | LRP5 | c.2249A>C (p.Gln750Pro) n.43A>C c.*855A>C (n.*855A>C) c.506A>C (p.Gln169Pro) c.2276A>C (p.Gln759Pro) n.2291A>C | |
11 | g.68410071A>G | CA381616596 | LRP5 | c.2249A>G (p.Gln750Arg) n.43A>G c.*855A>G (n.*855A>G) c.506A>G (p.Gln169Arg) c.2276A>G (p.Gln759Arg) n.2291A>G | dbSNP gnomAD v3 gnomAD v4 |
11 | g.68410071A>T | CA381616595 | LRP5 | c.2249A>T (p.Gln750Leu) n.43A>T c.*855A>T (n.*855A>T) c.506A>T (p.Gln169Leu) c.2276A>T (p.Gln759Leu) n.2291A>T | |
11 | g.68410072G>A | CA475463112 | LRP5 | c.2250G>A (p.Gln750=) n.44G>A c.*856G>A (n.*856G>A) c.507G>A (p.Gln169=) c.2277G>A (p.Gln759=) n.2292G>A | ClinVar dbSNP |
11 | g.68410072G>C | CA381616597 | LRP5 | c.2250G>C (p.Gln750His) n.44G>C c.*856G>C (n.*856G>C) c.507G>C (p.Gln169His) c.2277G>C (p.Gln759His) n.2292G>C | |
11 | g.68410072G>T | CA381616598 | LRP5 | c.2250G>T (p.Gln750His) n.44G>T c.*856G>T (n.*856G>T) c.507G>T (p.Gln169His) c.2277G>T (p.Gln759His) n.2292G>T | |
11 | g.68410073T>A | CA381616599 | LRP5 | c.2251T>A (p.Phe751Ile) n.45T>A c.*857T>A (n.*857T>A) c.508T>A (p.Phe170Ile) c.2278T>A (p.Phe760Ile) n.2293T>A | |
11 | g.68410073T>C | CA381616600 | LRP5 | c.2251T>C (p.Phe751Leu) n.45T>C c.*857T>C (n.*857T>C) c.508T>C (p.Phe170Leu) c.2278T>C (p.Phe760Leu) n.2293T>C | |
11 | g.68410073T>G | CA381616601 | LRP5 | c.2251T>G (p.Phe751Val) n.45T>G c.*857T>G (n.*857T>G) c.508T>G (p.Phe170Val) c.2278T>G (p.Phe760Val) n.2293T>G | |
11 | g.68410074T>A | CA381616602 | LRP5 | c.2252T>A (p.Phe751Tyr) n.46T>A c.*858T>A (n.*858T>A) c.509T>A (p.Phe170Tyr) c.2279T>A (p.Phe760Tyr) n.2294T>A | |
11 | g.68410074T>C | CA381616603 | LRP5 | c.2252T>C (p.Phe751Ser) n.46T>C c.*858T>C (n.*858T>C) c.509T>C (p.Phe170Ser) c.2279T>C (p.Phe760Ser) n.2294T>C | |
11 | g.68410074T>G | CA381616604 | LRP5 | c.2252T>G (p.Phe751Cys) n.46T>G c.*858T>G (n.*858T>G) c.509T>G (p.Phe170Cys) c.2279T>G (p.Phe760Cys) n.2294T>G | |
11 | g.68410075C>A | CA381616605 | LRP5 | c.2253C>A (p.Phe751Leu) n.47C>A c.*859C>A (n.*859C>A) c.510C>A (p.Phe170Leu) c.2280C>A (p.Phe760Leu) n.2295C>A | |
11 | g.68410075C>G | CA381616606 | LRP5 | c.2253C>G (p.Phe751Leu) n.47C>G c.*859C>G (n.*859C>G) c.510C>G (p.Phe170Leu) c.2280C>G (p.Phe760Leu) n.2295C>G | |
11 | g.68410075C>T | CA475463113 | LRP5 | c.2253C>T (p.Phe751=) n.47C>T c.*859C>T (n.*859C>T) c.510C>T (p.Phe170=) c.2280C>T (p.Phe760=) n.2295C>T | gnomAD v4 |
11 | g.68410076C>A | CA475463114 | LRP5 | c.2254C>A (p.Arg752=) n.48C>A c.*860C>A (n.*860C>A) c.511C>A (p.Arg171=) c.2281C>A (p.Arg761=) n.2296C>A | |
11 | g.68410076C= | CA1980594739 | LRP5 | c.2254C= (p.Arg752=) n.48C= c.*860C= (n.*860C=) c.511C= (p.Arg171=) c.2281C= (p.Arg761=) n.2296C= | |
11 | g.68410076C>G | CA118105 | LRP5 | c.2254C>G (p.Arg752Gly) n.48C>G c.*860C>G (n.*860C>G) c.511C>G (p.Arg171Gly) c.2281C>G (p.Arg761Gly) n.2296C>G | ClinVar dbSNP |
11 | g.68410076C>T | CA381616607 | LRP5 | c.2254C>T (p.Arg752Trp) n.48C>T c.*860C>T (n.*860C>T) c.511C>T (p.Arg171Trp) c.2281C>T (p.Arg761Trp) n.2296C>T | ClinVar dbSNP gnomAD v4 |
11 | g.68410077G>A | CA224270151 | LRP5 | c.2255G>A (p.Arg752Gln) n.49G>A c.*861G>A (n.*861G>A) c.512G>A (p.Arg171Gln) c.2282G>A (p.Arg761Gln) n.2297G>A | dbSNP gnomAD v3 gnomAD v4 COSMIC |
11 | g.68410077G>C | CA381616609 | LRP5 | c.2255G>C (p.Arg752Pro) n.49G>C c.*861G>C (n.*861G>C) c.512G>C (p.Arg171Pro) c.2282G>C (p.Arg761Pro) n.2297G>C | |
11 | g.68410077G= | CA1980594746 | LRP5 | c.2255G= (p.Arg752=) n.49G= c.*861G= (n.*861G=) c.512G= (p.Arg171=) c.2282G= (p.Arg761=) n.2297G= | |
11 | g.68410077G>T | CA381616608 | LRP5 | c.2255G>T (p.Arg752Leu) n.49G>T c.*861G>T (n.*861G>T) c.512G>T (p.Arg171Leu) c.2282G>T (p.Arg761Leu) n.2297G>T | gnomAD v4 |
11 | g.68410078G>A | CA475463115 | LRP5 | c.2256G>A (p.Arg752=) n.50G>A c.*862G>A (n.*862G>A) c.513G>A (p.Arg171=) c.2283G>A (p.Arg761=) n.2298G>A | |
11 | g.68410078G>C | CA475463116 | LRP5 | c.2256G>C (p.Arg752=) n.50G>C c.*862G>C (n.*862G>C) c.513G>C (p.Arg171=) c.2283G>C (p.Arg761=) n.2298G>C | |
11 | g.68410078G>T | CA475463117 | LRP5 | c.2256G>T (p.Arg752=) n.50G>T c.*862G>T (n.*862G>T) c.513G>T (p.Arg171=) c.2283G>T (p.Arg761=) n.2298G>T | |
11 | g.68410079C>A | CA381616610 | LRP5 | c.2257C>A (p.Gln753Lys) n.51C>A c.*863C>A (n.*863C>A) c.514C>A (p.Gln172Lys) c.2284C>A (p.Gln762Lys) n.2299C>A | gnomAD v4 |
11 | g.68410079C>G | CA381616611 | LRP5 | c.2257C>G (p.Gln753Glu) n.51C>G c.*863C>G (n.*863C>G) c.514C>G (p.Gln172Glu) c.2284C>G (p.Gln762Glu) n.2299C>G | |
11 | g.68410079C>T | CA381616612 | LRP5 | c.2257C>T (p.Gln753Ter) n.51C>T c.*863C>T (n.*863C>T) c.514C>T (p.Gln172Ter) c.2284C>T (p.Gln762Ter) n.2299C>T | |
11 | g.68410080A>C | CA381616613 | LRP5 | c.2258A>C (p.Gln753Pro) n.52A>C c.*864A>C (n.*864A>C) c.515A>C (p.Gln172Pro) c.2285A>C (p.Gln762Pro) n.2300A>C | |
11 | g.68410080A>G | CA381616614 | LRP5 | c.2258A>G (p.Gln753Arg) n.52A>G c.*864A>G (n.*864A>G) c.515A>G (p.Gln172Arg) c.2285A>G (p.Gln762Arg) n.2300A>G | |
11 | g.68410080A>T | CA381616615 | LRP5 | c.2258A>T (p.Gln753Leu) n.52A>T c.*864A>T (n.*864A>T) c.515A>T (p.Gln172Leu) c.2285A>T (p.Gln762Leu) n.2300A>T |