Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
2 | g.169154423C= | CA1306305513 | LRP2 | c.12295+37G= (n.12295+37G=) c.3195+37G= c.1323+37G= (n.1323+37G=) c.12166+37G= (n.12166+37G=) c.10006+37G= (n.10006+37G=) | |
2 | g.169154423C>T | CA1952842 | LRP2 | c.12295+37G>A (n.12295+37G>A) c.3195+37G>A c.1323+37G>A (n.1323+37G>A) c.12166+37G>A (n.12166+37G>A) c.10006+37G>A (n.10006+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154425T>C | CA2661815115 | LRP2 | c.12295+35A>G (n.12295+35A>G) c.3195+35A>G c.1323+35A>G (n.1323+35A>G) c.12166+35A>G (n.12166+35A>G) c.10006+35A>G (n.10006+35A>G) | gnomAD v4 |
2 | g.169154426A>G | CA2577149104 | LRP2 | c.12295+34T>C (n.12295+34T>C) c.3195+34T>C c.1323+34T>C (n.1323+34T>C) c.12166+34T>C (n.12166+34T>C) c.10006+34T>C (n.10006+34T>C) | |
2 | g.169154428T>C | CA2661815116 | LRP2 | c.12295+32A>G (n.12295+32A>G) c.3195+32A>G c.1323+32A>G (n.1323+32A>G) c.12166+32A>G (n.12166+32A>G) c.10006+32A>G (n.10006+32A>G) | gnomAD v4 |
2 | g.169154429A= | CA1306305514 | LRP2 | c.12295+31T= (n.12295+31T=) c.3195+31T= c.1323+31T= (n.1323+31T=) c.12166+31T= (n.12166+31T=) c.10006+31T= (n.10006+31T=) | |
2 | g.169154429A>G | CA537540956 | LRP2 | c.12295+31T>C (n.12295+31T>C) c.3195+31T>C c.1323+31T>C (n.1323+31T>C) c.12166+31T>C (n.12166+31T>C) c.10006+31T>C (n.10006+31T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154430T>C | CA760469636 | LRP2 | c.12295+30A>G (n.12295+30A>G) c.3195+30A>G c.1323+30A>G (n.1323+30A>G) c.12166+30A>G (n.12166+30A>G) c.10006+30A>G (n.10006+30A>G) | dbSNP |
2 | g.169154430T= | CA1306305515 | LRP2 | c.12295+30A= (n.12295+30A=) c.3195+30A= c.1323+30A= (n.1323+30A=) c.12166+30A= (n.12166+30A=) c.10006+30A= (n.10006+30A=) | |
2 | g.169154431C>A | CA2700932922 | LRP2 | c.12295+29G>T (n.12295+29G>T) c.3195+29G>T c.1323+29G>T (n.1323+29G>T) c.12166+29G>T (n.12166+29G>T) c.10006+29G>T (n.10006+29G>T) | dbSNP |
2 | g.169154431C>T | CA2661815117 | LRP2 | c.12295+29G>A (n.12295+29G>A) c.3195+29G>A c.1323+29G>A (n.1323+29G>A) c.12166+29G>A (n.12166+29G>A) c.10006+29G>A (n.10006+29G>A) | gnomAD v4 |
2 | g.169154433A= | CA1306305516 | LRP2 | c.12295+27T= (n.12295+27T=) c.3195+27T= c.1323+27T= (n.1323+27T=) c.12166+27T= (n.12166+27T=) c.10006+27T= (n.10006+27T=) | |
2 | g.169154433A>G | CA1952843 | LRP2 | c.12295+27T>C (n.12295+27T>C) c.3195+27T>C c.1323+27T>C (n.1323+27T>C) c.12166+27T>C (n.12166+27T>C) c.10006+27T>C (n.10006+27T>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154433A>T | CA537540961 | LRP2 | c.12295+27T>A (n.12295+27T>A) c.3195+27T>A c.1323+27T>A (n.1323+27T>A) c.12166+27T>A (n.12166+27T>A) c.10006+27T>A (n.10006+27T>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154434T>G | CA1952844 | LRP2 | c.12295+26A>C (n.12295+26A>C) c.3195+26A>C c.1323+26A>C (n.1323+26A>C) c.12166+26A>C (n.12166+26A>C) c.10006+26A>C (n.10006+26A>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154434T= | CA1306305519 | LRP2 | c.12295+26A= (n.12295+26A=) c.3195+26A= c.1323+26A= (n.1323+26A=) c.12166+26A= (n.12166+26A=) c.10006+26A= (n.10006+26A=) | |
2 | g.169154438A= | CA1306305521 | LRP2 | c.12295+22T= (n.12295+22T=) c.3195+22T= c.1323+22T= (n.1323+22T=) c.12166+22T= (n.12166+22T=) c.10006+22T= (n.10006+22T=) | |
2 | g.169154438A>G | CA1952845 | LRP2 | c.12295+22T>C (n.12295+22T>C) c.3195+22T>C c.1323+22T>C (n.1323+22T>C) c.12166+22T>C (n.12166+22T>C) c.10006+22T>C (n.10006+22T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154438_169154439delinsAG | CA1306305522 | LRP2 | c.12295+21_12295+22delinsCT (n.12295+21_12295+22delinsCT) c.3195+21_3195+22delinsCT c.1323+21_1323+22delinsCT (n.1323+21_1323+22delinsCT) c.12166+21_12166+22delinsCT (n.12166+21_12166+22delinsCT) c.10006+21_10006+22delinsCT (n.10006+21_10006+22delinsCT) | |
2 | g.169154439del | CA1039047814 | LRP2 | c.12295+21del (n.12295+21del) c.3195+21del c.1323+21del (n.1323+21del) c.12166+21del (n.12166+21del) c.10006+21del (n.10006+21del) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154439G>A | CA2661815119 | LRP2 | c.12295+21C>T (n.12295+21C>T) c.3195+21C>T c.1323+21C>T (n.1323+21C>T) c.12166+21C>T (n.12166+21C>T) c.10006+21C>T (n.10006+21C>T) | gnomAD v4 |
2 | g.169154439G>T | CA2661815118 | LRP2 | c.12295+21C>A (n.12295+21C>A) c.3195+21C>A c.1323+21C>A (n.1323+21C>A) c.12166+21C>A (n.12166+21C>A) c.10006+21C>A (n.10006+21C>A) | gnomAD v4 |
2 | g.169154440A= | CA1306305524 | LRP2 | c.12295+20T= (n.12295+20T=) c.3195+20T= c.1323+20T= (n.1323+20T=) c.12166+20T= (n.12166+20T=) c.10006+20T= (n.10006+20T=) | |
2 | g.169154440A>T | CA537541081 | LRP2 | c.12295+20T>A (n.12295+20T>A) c.3195+20T>A c.1323+20T>A (n.1323+20T>A) c.12166+20T>A (n.12166+20T>A) c.10006+20T>A (n.10006+20T>A) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154441T>A | CA2661815120 | LRP2 | c.12295+19A>T (n.12295+19A>T) c.3195+19A>T c.1323+19A>T (n.1323+19A>T) c.12166+19A>T (n.12166+19A>T) c.10006+19A>T (n.10006+19A>T) | gnomAD v4 |
2 | g.169154441T>C | CA537541082 | LRP2 | c.12295+19A>G (n.12295+19A>G) c.3195+19A>G c.1323+19A>G (n.1323+19A>G) c.12166+19A>G (n.12166+19A>G) c.10006+19A>G (n.10006+19A>G) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154441T>G | CA537541084 | LRP2 | c.12295+19A>C (n.12295+19A>C) c.3195+19A>C c.1323+19A>C (n.1323+19A>C) c.12166+19A>C (n.12166+19A>C) c.10006+19A>C (n.10006+19A>C) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154441T= | CA1306305526 | LRP2 | c.12295+19A= (n.12295+19A=) c.3195+19A= c.1323+19A= (n.1323+19A=) c.12166+19A= (n.12166+19A=) c.10006+19A= (n.10006+19A=) | |
2 | g.169154442G>A | CA2573133590 | LRP2 | c.12295+18C>T (n.12295+18C>T) c.3195+18C>T c.1323+18C>T (n.1323+18C>T) c.12166+18C>T (n.12166+18C>T) c.10006+18C>T (n.10006+18C>T) | ClinVar dbSNP |
2 | g.169154442G= | CA1306305528 | LRP2 | c.12295+18C= (n.12295+18C=) c.3195+18C= c.1323+18C= (n.1323+18C=) c.12166+18C= (n.12166+18C=) c.10006+18C= (n.10006+18C=) | |
2 | g.169154442G>T | CA1952846 | LRP2 | c.12295+18C>A (n.12295+18C>A) c.3195+18C>A c.1323+18C>A (n.1323+18C>A) c.12166+18C>A (n.12166+18C>A) c.10006+18C>A (n.10006+18C>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154443C>T | CA2661815122 | LRP2 | c.12295+17G>A (n.12295+17G>A) c.3195+17G>A c.1323+17G>A (n.1323+17G>A) c.12166+17G>A (n.12166+17G>A) c.10006+17G>A (n.10006+17G>A) | ClinVar dbSNP gnomAD v4 |
2 | g.169154444del | CA2661815121 | LRP2 | c.12295+17del (n.12295+17del) c.3195+17del c.1323+17del (n.1323+17del) c.12166+17del (n.12166+17del) c.10006+17del (n.10006+17del) | gnomAD v4 |
2 | g.169154444C= | CA1306305531 | LRP2 | c.12295+16G= (n.12295+16G=) c.3195+16G= c.1323+16G= (n.1323+16G=) c.12166+16G= (n.12166+16G=) c.10006+16G= (n.10006+16G=) | |
2 | g.169154444C>T | CA760469638 | LRP2 | c.12295+16G>A (n.12295+16G>A) c.3195+16G>A c.1323+16G>A (n.1323+16G>A) c.12166+16G>A (n.12166+16G>A) c.10006+16G>A (n.10006+16G>A) | dbSNP gnomAD v4 |
2 | g.169154444_169154445delinsCA | CA1306305530 | LRP2 | c.12295+15_12295+16delinsTG (n.12295+15_12295+16delinsTG) c.3195+15_3195+16delinsTG c.1323+15_1323+16delinsTG (n.1323+15_1323+16delinsTG) c.12166+15_12166+16delinsTG (n.12166+15_12166+16delinsTG) c.10006+15_10006+16delinsTG (n.10006+15_10006+16delinsTG) | |
2 | g.169154445A>G | CA2661815123 | LRP2 | c.12295+15T>C (n.12295+15T>C) c.3195+15T>C c.1323+15T>C (n.1323+15T>C) c.12166+15T>C (n.12166+15T>C) c.10006+15T>C (n.10006+15T>C) | gnomAD v4 |
2 | g.169154447del | CA1952847 | LRP2 | c.12295+15del (n.12295+15del) c.3195+15del c.1323+15del (n.1323+15del) c.12166+15del (n.12166+15del) c.10006+15del (n.10006+15del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154448G>T | CA2661815124 | LRP2 | c.12295+12C>A (n.12295+12C>A) c.3195+12C>A c.1323+12C>A (n.1323+12C>A) c.12166+12C>A (n.12166+12C>A) c.10006+12C>A (n.10006+12C>A) | gnomAD v4 |
2 | g.169154451dup | CA2661815125 | LRP2 | c.12295+11dup (n.12295+11dup) c.3195+11dup c.1323+11dup (n.1323+11dup) c.12166+11dup (n.12166+11dup) c.10006+11dup (n.10006+11dup) | ClinVar gnomAD v4 |
2 | g.169154451T>A | CA2661815126 | LRP2 | c.12295+9A>T (n.12295+9A>T) c.3195+9A>T c.1323+9A>T (n.1323+9A>T) c.12166+9A>T (n.12166+9A>T) c.10006+9A>T (n.10006+9A>T) | gnomAD v4 |
2 | g.169154452A= | CA1306305533 | LRP2 | c.12295+8T= (n.12295+8T=) c.3195+8T= c.1323+8T= (n.1323+8T=) c.12166+8T= (n.12166+8T=) c.10006+8T= (n.10006+8T=) | |
2 | g.169154452A>G | CA1952848 | LRP2 | c.12295+8T>C (n.12295+8T>C) c.3195+8T>C c.1323+8T>C (n.1323+8T>C) c.12166+8T>C (n.12166+8T>C) c.10006+8T>C (n.10006+8T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154453T>C | CA1952849 | LRP2 | c.12295+7A>G (n.12295+7A>G) c.3195+7A>G c.1323+7A>G (n.1323+7A>G) c.12166+7A>G (n.12166+7A>G) c.10006+7A>G (n.10006+7A>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154453T= | CA1306305536 | LRP2 | c.12295+7A= (n.12295+7A=) c.3195+7A= c.1323+7A= (n.1323+7A=) c.12166+7A= (n.12166+7A=) c.10006+7A= (n.10006+7A=) | |
2 | g.169154455C>T | CA2577149105 | LRP2 | c.12295+5G>A (n.12295+5G>A) c.3195+5G>A c.1323+5G>A (n.1323+5G>A) c.12166+5G>A (n.12166+5G>A) c.10006+5G>A (n.10006+5G>A) | dbSNP gnomAD v4 |
2 | g.169154458_169154459del | CA2661815127 | LRP2 | c.12295+2_12295+3del (n.12295+2_12295+3del) c.3195+2_3195+3del c.1323+2_1323+3del (n.1323+2_1323+3del) c.12166+2_12166+3del (n.12166+2_12166+3del) c.10006+2_10006+3del (n.10006+2_10006+3del) | gnomAD v4 |
2 | g.169154458A>C | CA349136884 | LRP2 | c.12295+2T>G (n.12295+2T>G) c.3195+2T>G c.1323+2T>G (n.1323+2T>G) c.12166+2T>G (n.12166+2T>G) c.10006+2T>G (n.10006+2T>G) | |
2 | g.169154458A>G | CA349136886 | LRP2 | c.12295+2T>C (n.12295+2T>C) c.3195+2T>C c.1323+2T>C (n.1323+2T>C) c.12166+2T>C (n.12166+2T>C) c.10006+2T>C (n.10006+2T>C) | |
2 | g.169154458A>T | CA349136887 | LRP2 | c.12295+2T>A (n.12295+2T>A) c.3195+2T>A c.1323+2T>A (n.1323+2T>A) c.12166+2T>A (n.12166+2T>A) c.10006+2T>A (n.10006+2T>A) | |
2 | g.169154459C>A | CA349136888 | LRP2 | c.12295+1G>T (n.12295+1G>T) c.3195+1G>T c.1323+1G>T (n.1323+1G>T) c.12166+1G>T (n.12166+1G>T) c.10006+1G>T (n.10006+1G>T) | |
2 | g.169154459C>G | CA349136891 | LRP2 | c.12295+1G>C (n.12295+1G>C) c.3195+1G>C c.1323+1G>C (n.1323+1G>C) c.12166+1G>C (n.12166+1G>C) c.10006+1G>C (n.10006+1G>C) | |
2 | g.169154459C>T | CA349136889 | LRP2 | c.12295+1G>A (n.12295+1G>A) c.3195+1G>A c.1323+1G>A (n.1323+1G>A) c.12166+1G>A (n.12166+1G>A) c.10006+1G>A (n.10006+1G>A) | |
2 | g.169154460T>A | CA349136894 | LRP2 | c.12295A>T (p.Ser4099Cys) c.3195A>T c.1323A>T (n.1323A>T) c.12166A>T (p.Ser4056Cys) c.10006A>T (p.Ser3336Cys) | |
2 | g.169154460T>C | CA349136897 | LRP2 | c.12295A>G (p.Ser4099Gly) c.3195A>G c.1323A>G (n.1323A>G) c.12166A>G (p.Ser4056Gly) c.10006A>G (p.Ser3336Gly) | |
2 | g.169154460T>G | CA59898055 | LRP2 | c.12295A>C (p.Ser4099Arg) c.3195A>C c.1323A>C (n.1323A>C) c.12166A>C (p.Ser4056Arg) c.10006A>C (p.Ser3336Arg) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154460T= | CA1306305543 | LRP2 | c.12295A= (p.Ser4099=) c.3195A= c.1323A= (n.1323A=) c.12166A= (p.Ser4056=) c.10006A= (p.Ser3336=) | |
2 | g.169154461G>A | CA429922541 | LRP2 | c.12294C>T (p.Leu4098=) c.3194C>T c.1322C>T (n.1322C>T) c.12165C>T (p.Leu4055=) c.10005C>T (p.Leu3335=) | |
2 | g.169154461G>C | CA429922540 | LRP2 | c.12294C>G (p.Leu4098=) c.3194C>G c.1322C>G (n.1322C>G) c.12165C>G (p.Leu4055=) c.10005C>G (p.Leu3335=) | |
2 | g.169154461G>T | CA429922542 | LRP2 | c.12294C>A (p.Leu4098=) c.3194C>A c.1322C>A (n.1322C>A) c.12165C>A (p.Leu4055=) c.10005C>A (p.Leu3335=) | |
2 | g.169154462A>C | CA349136902 | LRP2 | c.12293T>G (p.Leu4098Arg) c.3193T>G c.1321T>G (n.1321T>G) c.12164T>G (p.Leu4055Arg) c.10004T>G (p.Leu3335Arg) | |
2 | g.169154462A>G | CA349136908 | LRP2 | c.12293T>C (p.Leu4098Pro) c.3193T>C c.1321T>C (n.1321T>C) c.12164T>C (p.Leu4055Pro) c.10004T>C (p.Leu3335Pro) | |
2 | g.169154462A>T | CA349136910 | LRP2 | c.12293T>A (p.Leu4098His) c.3193T>A c.1321T>A (n.1321T>A) c.12164T>A (p.Leu4055His) c.10004T>A (p.Leu3335His) | dbSNP |
2 | g.169154463G>A | CA349136911 | LRP2 | c.12292C>T (p.Leu4098Phe) c.3192C>T c.1320C>T (n.1320C>T) c.12163C>T (p.Leu4055Phe) c.10003C>T (p.Leu3335Phe) | |
2 | g.169154463G>C | CA349136914 | LRP2 | c.12292C>G (p.Leu4098Val) c.3192C>G c.1320C>G (n.1320C>G) c.12163C>G (p.Leu4055Val) c.10003C>G (p.Leu3335Val) | |
2 | g.169154463G>T | CA349136916 | LRP2 | c.12292C>A (p.Leu4098Ile) c.3192C>A c.1320C>A (n.1320C>A) c.12163C>A (p.Leu4055Ile) c.10003C>A (p.Leu3335Ile) | |
2 | g.169154464G>A | CA429922544 | LRP2 | c.12291C>T (p.Gly4097=) c.3191C>T c.1319C>T (n.1319C>T) c.12162C>T (p.Gly4054=) c.10002C>T (p.Gly3334=) | gnomAD v4 |
2 | g.169154464G>C | CA429922545 | LRP2 | c.12291C>G (p.Gly4097=) c.3191C>G c.1319C>G (n.1319C>G) c.12162C>G (p.Gly4054=) c.10002C>G (p.Gly3334=) | |
2 | g.169154464G= | CA1306305545 | LRP2 | c.12291C= (p.Gly4097=) c.3191C= c.1319C= (n.1319C=) c.12162C= (p.Gly4054=) c.10002C= (p.Gly3334=) | |
2 | g.169154464G>T | CA1952850 | LRP2 | c.12291C>A (p.Gly4097=) c.3191C>A c.1319C>A (n.1319C>A) c.12162C>A (p.Gly4054=) c.10002C>A (p.Gly3334=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154465C>A | CA349136933 | LRP2 | c.12290G>T (p.Gly4097Val) c.3190G>T c.1318G>T (n.1318G>T) c.12161G>T (p.Gly4054Val) c.10001G>T (p.Gly3334Val) | |
2 | g.169154465C>G | CA349136931 | LRP2 | c.12290G>C (p.Gly4097Ala) c.3190G>C c.1318G>C (n.1318G>C) c.12161G>C (p.Gly4054Ala) c.10001G>C (p.Gly3334Ala) | |
2 | g.169154465C>T | CA349136922 | LRP2 | c.12290G>A (p.Gly4097Asp) c.3190G>A c.1318G>A (n.1318G>A) c.12161G>A (p.Gly4054Asp) c.10001G>A (p.Gly3334Asp) | |
2 | g.169154466C>A | CA349136937 | LRP2 | c.12289G>T (p.Gly4097Cys) c.3189G>T c.1317G>T (p.Ter439Tyr) c.12160G>T (p.Gly4054Cys) c.10000G>T (p.Gly3334Cys) | |
2 | g.169154466C>G | CA349136941 | LRP2 | c.12289G>C (p.Gly4097Arg) c.3189G>C c.1317G>C (p.Ter439Tyr) c.12160G>C (p.Gly4054Arg) c.10000G>C (p.Gly3334Arg) | |
2 | g.169154466C>T | CA349136939 | LRP2 | c.12289G>A (p.Gly4097Ser) c.3189G>A c.1317G>A (p.Ter439=) c.12160G>A (p.Gly4054Ser) c.10000G>A (p.Gly3334Ser) | gnomAD v4 |
2 | g.169154467T>A | CA429922546 | LRP2 | c.12288A>T (p.Ile4096=) c.3188A>T c.1316A>T (p.Ter439Leu) c.12159A>T (p.Ile4053=) c.9999A>T (p.Ile3333=) | |
2 | g.169154467T>C | CA349136942 | LRP2 | c.12288A>G (p.Ile4096Met) c.3188A>G c.1316A>G (p.Ter439Trp) c.12159A>G (p.Ile4053Met) c.9999A>G (p.Ile3333Met) | |
2 | g.169154467T>G | CA429922547 | LRP2 | c.12288A>C (p.Ile4096=) c.3188A>C c.1316A>C (p.Ter439Ser) c.12159A>C (p.Ile4053=) c.9999A>C (p.Ile3333=) | |
2 | g.169154468A= | CA1306305551 | LRP2 | c.12287T= (p.Ile4096=) c.3187T= c.1315T= (p.Ter439=) c.12158T= (p.Ile4053=) c.9998T= (p.Ile3333=) | |
2 | g.169154468A>C | CA349136949 | LRP2 | c.12287T>G (p.Ile4096Arg) c.3187T>G c.1315T>G (p.Ter439Glu) c.12158T>G (p.Ile4053Arg) c.9998T>G (p.Ile3333Arg) | |
2 | g.169154468A>G | CA1952851 | LRP2 | c.12287T>C (p.Ile4096Thr) c.3187T>C c.1315T>C (p.Ter439Gln) c.12158T>C (p.Ile4053Thr) c.9998T>C (p.Ile3333Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154468A>T | CA349136946 | LRP2 | c.12287T>A (p.Ile4096Lys) c.3187T>A c.1315T>A (p.Ter439Lys) c.12158T>A (p.Ile4053Lys) c.9998T>A (p.Ile3333Lys) | |
2 | g.169154469T>A | CA349136951 | LRP2 | c.12286A>T (p.Ile4096Leu) c.3186A>T c.1314A>T (p.Thr438=) c.12157A>T (p.Ile4053Leu) c.9997A>T (p.Ile3333Leu) | |
2 | g.169154469T>C | CA1952852 | LRP2 | c.12286A>G (p.Ile4096Val) c.3186A>G c.1314A>G (p.Thr438=) c.12157A>G (p.Ile4053Val) c.9997A>G (p.Ile3333Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154469T>G | CA349136954 | LRP2 | c.12286A>C (p.Ile4096Leu) c.3186A>C c.1314A>C (p.Thr438=) c.12157A>C (p.Ile4053Leu) c.9997A>C (p.Ile3333Leu) | dbSNP |
2 | g.169154469T= | CA1306305557 | LRP2 | c.12286A= (p.Ile4096=) c.3186A= c.1314A= (p.Thr438=) c.12157A= (p.Ile4053=) c.9997A= (p.Ile3333=) | |
2 | g.169154470G>A | CA429922548 | LRP2 | c.12285C>T (p.Asp4095=) c.3185C>T c.1313C>T (p.Thr438Ile) c.12156C>T (p.Asp4052=) c.9996C>T (p.Asp3332=) | |
2 | g.169154470G>C | CA349136956 | LRP2 | c.12285C>G (p.Asp4095Glu) c.3185C>G c.1313C>G (p.Thr438Arg) c.12156C>G (p.Asp4052Glu) c.9996C>G (p.Asp3332Glu) | dbSNP |
2 | g.169154470G>T | CA349136958 | LRP2 | c.12285C>A (p.Asp4095Glu) c.3185C>A c.1313C>A (p.Thr438Lys) c.12156C>A (p.Asp4052Glu) c.9996C>A (p.Asp3332Glu) | |
2 | g.169154471T>A | CA59898091 | LRP2 | c.12284A>T (p.Asp4095Val) c.3184A>T c.1312A>T (p.Thr438Ser) c.12155A>T (p.Asp4052Val) c.9995A>T (p.Asp3332Val) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154471T>C | CA349136962 | LRP2 | c.12284A>G (p.Asp4095Gly) c.3184A>G c.1312A>G (p.Thr438Ala) c.12155A>G (p.Asp4052Gly) c.9995A>G (p.Asp3332Gly) | |
2 | g.169154471T>G | CA349136966 | LRP2 | c.12284A>C (p.Asp4095Ala) c.3184A>C c.1312A>C (p.Thr438Pro) c.12155A>C (p.Asp4052Ala) c.9995A>C (p.Asp3332Ala) | |
2 | g.169154471T= | CA1306305562 | LRP2 | c.12284A= (p.Asp4095=) c.3184A= c.1312A= (p.Thr438=) c.12155A= (p.Asp4052=) c.9995A= (p.Asp3332=) | |
2 | g.169154472C>A | CA349136968 | LRP2 | c.12283G>T (p.Asp4095Tyr) c.3183G>T c.1311G>T (p.Arg437Ser) c.12154G>T (p.Asp4052Tyr) c.9994G>T (p.Asp3332Tyr) | |
2 | g.169154472C>G | CA349136972 | LRP2 | c.12283G>C (p.Asp4095His) c.3183G>C c.1311G>C (p.Arg437Ser) c.12154G>C (p.Asp4052His) c.9994G>C (p.Asp3332His) | dbSNP |
2 | g.169154472C>T | CA349136973 | LRP2 | c.12283G>A (p.Asp4095Asn) c.3183G>A c.1311G>A (p.Arg437=) c.12154G>A (p.Asp4052Asn) c.9994G>A (p.Asp3332Asn) | |
2 | g.169154473C>A | CA349136974 | LRP2 | c.12282G>T (p.Lys4094Asn) c.3182G>T c.1310G>T (p.Arg437Met) c.12153G>T (p.Lys4051Asn) c.9993G>T (p.Lys3331Asn) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154473C= | CA1306305569 | LRP2 | c.12282G= (p.Lys4094=) c.3182G= c.1310G= (p.Arg437=) c.12153G= (p.Lys4051=) c.9993G= (p.Lys3331=) | |
2 | g.169154473C>G | CA1952853 | LRP2 | c.12282G>C (p.Lys4094Asn) c.3182G>C c.1310G>C (p.Arg437Thr) c.12153G>C (p.Lys4051Asn) c.9993G>C (p.Lys3331Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154473C>T | CA429922549 | LRP2 | c.12282G>A (p.Lys4094=) c.3182G>A c.1310G>A (p.Arg437Lys) c.12153G>A (p.Lys4051=) c.9993G>A (p.Lys3331=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154474T>A | CA349136978 | LRP2 | c.12281A>T (p.Lys4094Met) c.3181A>T c.1309A>T (p.Arg437Trp) c.12152A>T (p.Lys4051Met) c.9992A>T (p.Lys3331Met) | |
2 | g.169154474T>C | CA349136980 | LRP2 | c.12281A>G (p.Lys4094Arg) c.3181A>G c.1309A>G (p.Arg437Gly) c.12152A>G (p.Lys4051Arg) c.9992A>G (p.Lys3331Arg) | |
2 | g.169154474T>G | CA349136983 | LRP2 | c.12281A>C (p.Lys4094Thr) c.3181A>C c.1309A>C (p.Arg437=) c.12152A>C (p.Lys4051Thr) c.9992A>C (p.Lys3331Thr) | |
2 | g.169154475T>A | CA349136984 | LRP2 | c.12280A>T (p.Lys4094Ter) c.3180A>T c.1308A>T (p.Pro436=) c.12151A>T (p.Lys4051Ter) c.9991A>T (p.Lys3331Ter) | dbSNP gnomAD v4 |
2 | g.169154475T>C | CA153548 | LRP2 | c.12280A>G (p.Lys4094Glu) c.3180A>G c.1308A>G (p.Pro436=) c.12151A>G (p.Lys4051Glu) c.9991A>G (p.Lys3331Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154475T>G | CA349136993 | LRP2 | c.12280A>C (p.Lys4094Gln) c.3180A>C c.1308A>C (p.Pro436=) c.12151A>C (p.Lys4051Gln) c.9991A>C (p.Lys3331Gln) | gnomAD v3 gnomAD v4 |
2 | g.169154475T= | CA1306305573 | LRP2 | c.12280A= (p.Lys4094=) c.3180A= c.1308A= (p.Pro436=) c.12151A= (p.Lys4051=) c.9991A= (p.Lys3331=) | |
2 | g.169154475_169154476delinsCA | CA2573133591 | LRP2 | c.12279_12280delinsTG (p.Lys4094Glu) c.3179_3180delinsTG c.1307_1308delinsTG (p.Pro436Leu) c.12150_12151delinsTG (p.Lys4051Glu) c.9990_9991delinsTG (p.Lys3331Glu) | ClinVar |
2 | g.169154476G>A | CA1952854 | LRP2 | c.12279C>T (p.Pro4093=) c.3179C>T c.1307C>T (p.Pro436Leu) c.12150C>T (p.Pro4050=) c.9990C>T (p.Pro3330=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154476G>C | CA429922550 | LRP2 | c.12279C>G (p.Pro4093=) c.3179C>G c.1307C>G (p.Pro436Arg) c.12150C>G (p.Pro4050=) c.9990C>G (p.Pro3330=) | |
2 | g.169154476G= | CA1306305578 | LRP2 | c.12279C= (p.Pro4093=) c.3179C= c.1307C= (p.Pro436=) c.12150C= (p.Pro4050=) c.9990C= (p.Pro3330=) | |
2 | g.169154476G>T | CA429922551 | LRP2 | c.12279C>A (p.Pro4093=) c.3179C>A c.1307C>A (p.Pro436Gln) c.12150C>A (p.Pro4050=) c.9990C>A (p.Pro3330=) | |
2 | g.169154478del | CA2661815128 | LRP2 | c.12279del (p.Lys4094ArgfsTer3) c.3179del c.1307del (p.Pro436GlnfsTer18) c.12150del (p.Lys4051ArgfsTer3) c.9990del (p.Lys3331ArgfsTer3) | gnomAD v4 |
2 | g.169154477G>A | CA349136999 | LRP2 | c.12278C>T (p.Pro4093Leu) c.3178C>T c.1306C>T (p.Pro436Ser) c.12149C>T (p.Pro4050Leu) c.9989C>T (p.Pro3330Leu) | |
2 | g.169154477G>C | CA349137000 | LRP2 | c.12278C>G (p.Pro4093Arg) c.3178C>G c.1306C>G (p.Pro436Ala) c.12149C>G (p.Pro4050Arg) c.9989C>G (p.Pro3330Arg) | |
2 | g.169154477G>T | CA349137003 | LRP2 | c.12278C>A (p.Pro4093His) c.3178C>A c.1306C>A (p.Pro436Thr) c.12149C>A (p.Pro4050His) c.9989C>A (p.Pro3330His) | gnomAD v4 |
2 | g.169154478G>A | CA349137011 | LRP2 | c.12277C>T (p.Pro4093Ser) c.3177C>T c.1305C>T (p.Ile435=) c.12148C>T (p.Pro4050Ser) c.9988C>T (p.Pro3330Ser) | |
2 | g.169154478G>C | CA349137008 | LRP2 | c.12277C>G (p.Pro4093Ala) c.3177C>G c.1305C>G (p.Ile435Met) c.12148C>G (p.Pro4050Ala) c.9988C>G (p.Pro3330Ala) | |
2 | g.169154478G>T | CA349137006 | LRP2 | c.12277C>A (p.Pro4093Thr) c.3177C>A c.1305C>A (p.Ile435=) c.12148C>A (p.Pro4050Thr) c.9988C>A (p.Pro3330Thr) | ClinVar |
2 | g.169154479A>C | CA349137013 | LRP2 | c.12276T>G (p.Asp4092Glu) c.3176T>G c.1304T>G (p.Ile435Ser) c.12147T>G (p.Asp4049Glu) c.9987T>G (p.Asp3329Glu) | |
2 | g.169154479A>G | CA429922552 | LRP2 | c.12276T>C (p.Asp4092=) c.3176T>C c.1304T>C (p.Ile435Thr) c.12147T>C (p.Asp4049=) c.9987T>C (p.Asp3329=) | |
2 | g.169154479A>T | CA349137016 | LRP2 | c.12276T>A (p.Asp4092Glu) c.3176T>A c.1304T>A (p.Ile435Asn) c.12147T>A (p.Asp4049Glu) c.9987T>A (p.Asp3329Glu) | |
2 | g.169154480T>A | CA349137018 | LRP2 | c.12275A>T (p.Asp4092Val) c.3175A>T c.1303A>T (p.Ile435Phe) c.12146A>T (p.Asp4049Val) c.9986A>T (p.Asp3329Val) | |
2 | g.169154480T>C | CA349137020 | LRP2 | c.12275A>G (p.Asp4092Gly) c.3175A>G c.1303A>G (p.Ile435Val) c.12146A>G (p.Asp4049Gly) c.9986A>G (p.Asp3329Gly) | |
2 | g.169154480T>G | CA349137022 | LRP2 | c.12275A>C (p.Asp4092Ala) c.3175A>C c.1303A>C (p.Ile435Leu) c.12146A>C (p.Asp4049Ala) c.9986A>C (p.Asp3329Ala) | |
2 | g.169154481C>A | CA349137025 | LRP2 | c.12274G>T (p.Asp4092Tyr) c.3174G>T c.1302G>T (p.Gly434=) c.12145G>T (p.Asp4049Tyr) c.9985G>T (p.Asp3329Tyr) | |
2 | g.169154481C>G | CA349137027 | LRP2 | c.12274G>C (p.Asp4092His) c.3174G>C c.1302G>C (p.Gly434=) c.12145G>C (p.Asp4049His) c.9985G>C (p.Asp3329His) | |
2 | g.169154481C>T | CA349137030 | LRP2 | c.12274G>A (p.Asp4092Asn) c.3174G>A c.1302G>A (p.Gly434=) c.12145G>A (p.Asp4049Asn) c.9985G>A (p.Asp3329Asn) | dbSNP |
2 | g.169154482C>A | CA349137034 | LRP2 | c.12273G>T (p.Trp4091Cys) c.3173G>T c.1301G>T (p.Gly434Val) c.12144G>T (p.Trp4048Cys) c.9984G>T (p.Trp3328Cys) | dbSNP |
2 | g.169154482C>G | CA349137035 | LRP2 | c.12273G>C (p.Trp4091Cys) c.3173G>C c.1301G>C (p.Gly434Ala) c.12144G>C (p.Trp4048Cys) c.9984G>C (p.Trp3328Cys) | |
2 | g.169154482C>T | CA349137038 | LRP2 | c.12273G>A (p.Trp4091Ter) c.3173G>A c.1301G>A (p.Gly434Glu) c.12144G>A (p.Trp4048Ter) c.9984G>A (p.Trp3328Ter) | |
2 | g.169154482_169154483insGG | CA2661815129 | LRP2 | c.12272_12273insCC (p.Trp4091CysfsTer7) c.3172_3173insCC c.1300_1301insCC (p.Gly434AlafsTer21) c.12143_12144insCC (p.Trp4048CysfsTer7) c.9983_9984insCC (p.Trp3328CysfsTer7) | gnomAD v4 |
2 | g.169154483C>A | CA349137042 | LRP2 | c.12272G>T (p.Trp4091Leu) c.3172G>T c.1300G>T (p.Gly434Trp) c.12143G>T (p.Trp4048Leu) c.9983G>T (p.Trp3328Leu) | gnomAD v4 |
2 | g.169154483C>G | CA349137041 | LRP2 | c.12272G>C (p.Trp4091Ser) c.3172G>C c.1300G>C (p.Gly434Arg) c.12143G>C (p.Trp4048Ser) c.9983G>C (p.Trp3328Ser) | gnomAD v4 |
2 | g.169154483C>T | CA349137040 | LRP2 | c.12272G>A (p.Trp4091Ter) c.3172G>A c.1300G>A (p.Gly434Arg) c.12143G>A (p.Trp4048Ter) c.9983G>A (p.Trp3328Ter) | |
2 | g.169154484A>C | CA349137043 | LRP2 | c.12271T>G (p.Trp4091Gly) c.3171T>G c.1299T>G (p.Ile433Met) c.12142T>G (p.Trp4048Gly) c.9982T>G (p.Trp3328Gly) | gnomAD v4 |
2 | g.169154484A>G | CA349137044 | LRP2 | c.12271T>C (p.Trp4091Arg) c.3171T>C c.1299T>C (p.Ile433=) c.12142T>C (p.Trp4048Arg) c.9982T>C (p.Trp3328Arg) | gnomAD v4 |
2 | g.169154484A>T | CA349137046 | LRP2 | c.12271T>A (p.Trp4091Arg) c.3171T>A c.1299T>A (p.Ile433=) c.12142T>A (p.Trp4048Arg) c.9982T>A (p.Trp3328Arg) | gnomAD v4 |
2 | g.169154484_169154485del | CA2661815131 | LRP2 | c.12270_12271del (p.Asp4090GlufsTer21) c.3170_3171del c.1298_1299del (p.Ile433ArgfsTer?) c.12141_12142del (p.Asp4047GlufsTer21) c.9981_9982del (p.Asp3327GlufsTer21) | gnomAD v4 |
2 | g.169154489_169154494dup | CA2661815130 | LRP2 | c.12266_12271dup (p.Asp4090_Trp4091insTyrAsp) c.3166_3171dup c.1294_1299dup (p.Ile433_Gly434insMetIle) c.12137_12142dup (p.Asp4047_Trp4048insTyrAsp) c.9977_9982dup (p.Asp3327_Trp3328insTyrAsp) | gnomAD v4 |
2 | g.169154485A= | CA1306305580 | LRP2 | c.12270T= (p.Asp4090=) c.3170T= c.1298T= (p.Ile433=) c.12141T= (p.Asp4047=) c.9981T= (p.Asp3327=) | |
2 | g.169154485A>C | CA349137048 | LRP2 | c.12270T>G (p.Asp4090Glu) c.3170T>G c.1298T>G (p.Ile433Ser) c.12141T>G (p.Asp4047Glu) c.9981T>G (p.Asp3327Glu) | gnomAD v4 |
2 | g.169154485A>G | CA429922553 | LRP2 | c.12270T>C (p.Asp4090=) c.3170T>C c.1298T>C (p.Ile433Thr) c.12141T>C (p.Asp4047=) c.9981T>C (p.Asp3327=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154485A>T | CA349137050 | LRP2 | c.12270T>A (p.Asp4090Glu) c.3170T>A c.1298T>A (p.Ile433Asn) c.12141T>A (p.Asp4047Glu) c.9981T>A (p.Asp3327Glu) | gnomAD v4 |
2 | g.169154486T>A | CA349137051 | LRP2 | c.12269A>T (p.Asp4090Val) c.3169A>T c.1297A>T (p.Ile433Phe) c.12140A>T (p.Asp4047Val) c.9980A>T (p.Asp3327Val) | |
2 | g.169154486T>C | CA349137053 | LRP2 | c.12269A>G (p.Asp4090Gly) c.3169A>G c.1297A>G (p.Ile433Val) c.12140A>G (p.Asp4047Gly) c.9980A>G (p.Asp3327Gly) | |
2 | g.169154486T>G | CA349137055 | LRP2 | c.12269A>C (p.Asp4090Ala) c.3169A>C c.1297A>C (p.Ile433Leu) c.12140A>C (p.Asp4047Ala) c.9980A>C (p.Asp3327Ala) | |
2 | g.169154487C>A | CA349137058 | LRP2 | c.12268G>T (p.Asp4090Tyr) c.3168G>T c.1296G>T (p.Met432Ile) c.12139G>T (p.Asp4047Tyr) c.9979G>T (p.Asp3327Tyr) | gnomAD v4 |
2 | g.169154487C>G | CA349137062 | LRP2 | c.12268G>C (p.Asp4090His) c.3168G>C c.1296G>C (p.Met432Ile) c.12139G>C (p.Asp4047His) c.9979G>C (p.Asp3327His) | |
2 | g.169154487C>T | CA349137064 | LRP2 | c.12268G>A (p.Asp4090Asn) c.3168G>A c.1296G>A (p.Met432Ile) c.12139G>A (p.Asp4047Asn) c.9979G>A (p.Asp3327Asn) | |
2 | g.169154488A= | CA1306305583 | LRP2 | c.12267T= (p.Tyr4089=) c.3167T= c.1295T= (p.Met432=) c.12138T= (p.Tyr4046=) c.9978T= (p.Tyr3326=) | |
2 | g.169154488A>C | CA349137067 | LRP2 | c.12267T>G (p.Tyr4089Ter) c.3167T>G c.1295T>G (p.Met432Arg) c.12138T>G (p.Tyr4046Ter) c.9978T>G (p.Tyr3326Ter) | |
2 | g.169154488A>G | CA429922554 | LRP2 | c.12267T>C (p.Tyr4089=) c.3167T>C c.1295T>C (p.Met432Thr) c.12138T>C (p.Tyr4046=) c.9978T>C (p.Tyr3326=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154488A>T | CA349137068 | LRP2 | c.12267T>A (p.Tyr4089Ter) c.3167T>A c.1295T>A (p.Met432Lys) c.12138T>A (p.Tyr4046Ter) c.9978T>A (p.Tyr3326Ter) | |
2 | g.169154489T>A | CA349137070 | LRP2 | c.12266A>T (p.Tyr4089Phe) c.3166A>T c.1294A>T (p.Met432Leu) c.12137A>T (p.Tyr4046Phe) c.9977A>T (p.Tyr3326Phe) | |
2 | g.169154489T>C | CA349137071 | LRP2 | c.12266A>G (p.Tyr4089Cys) c.3166A>G c.1294A>G (p.Met432Val) c.12137A>G (p.Tyr4046Cys) c.9977A>G (p.Tyr3326Cys) | |
2 | g.169154489T>G | CA349137069 | LRP2 | c.12266A>C (p.Tyr4089Ser) c.3166A>C c.1294A>C (p.Met432Leu) c.12137A>C (p.Tyr4046Ser) c.9977A>C (p.Tyr3326Ser) | |
2 | g.169154490A>C | CA349137081 | LRP2 | c.12265T>G (p.Tyr4089Asp) c.3165T>G c.1293T>G (p.Ile431Met) c.12136T>G (p.Tyr4046Asp) c.9976T>G (p.Tyr3326Asp) | |
2 | g.169154490A>G | CA349137077 | LRP2 | c.12265T>C (p.Tyr4089His) c.3165T>C c.1293T>C (p.Ile431=) c.12136T>C (p.Tyr4046His) c.9976T>C (p.Tyr3326His) | |
2 | g.169154490A>T | CA349137079 | LRP2 | c.12265T>A (p.Tyr4089Asn) c.3165T>A c.1293T>A (p.Ile431=) c.12136T>A (p.Tyr4046Asn) c.9976T>A (p.Tyr3326Asn) | |
2 | g.169154491A= | CA1306305586 | LRP2 | c.12264T= (p.Asp4088=) c.3164T= c.1292T= (p.Ile431=) c.12135T= (p.Asp4045=) c.9975T= (p.Asp3325=) | |
2 | g.169154491A>C | CA349137084 | LRP2 | c.12264T>G (p.Asp4088Glu) c.3164T>G c.1292T>G (p.Ile431Ser) c.12135T>G (p.Asp4045Glu) c.9975T>G (p.Asp3325Glu) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154491A>G | CA429922555 | LRP2 | c.12264T>C (p.Asp4088=) c.3164T>C c.1292T>C (p.Ile431Thr) c.12135T>C (p.Asp4045=) c.9975T>C (p.Asp3325=) | |
2 | g.169154491A>T | CA349137085 | LRP2 | c.12264T>A (p.Asp4088Glu) c.3164T>A c.1292T>A (p.Ile431Asn) c.12135T>A (p.Asp4045Glu) c.9975T>A (p.Asp3325Glu) | |
2 | g.169154492T>A | CA349137088 | LRP2 | c.12263A>T (p.Asp4088Val) c.3163A>T c.1291A>T (p.Ile431Phe) c.12134A>T (p.Asp4045Val) c.9974A>T (p.Asp3325Val) | |
2 | g.169154492T>C | CA349137090 | LRP2 | c.12263A>G (p.Asp4088Gly) c.3163A>G c.1291A>G (p.Ile431Val) c.12134A>G (p.Asp4045Gly) c.9974A>G (p.Asp3325Gly) | |
2 | g.169154492T>G | CA349137091 | LRP2 | c.12263A>C (p.Asp4088Ala) c.3163A>C c.1291A>C (p.Ile431Leu) c.12134A>C (p.Asp4045Ala) c.9974A>C (p.Asp3325Ala) | |
2 | g.169154493C>A | CA349137094 | LRP2 | c.12262G>T (p.Asp4088Tyr) c.3162G>T c.1290G>T (p.Leu430Phe) c.12133G>T (p.Asp4045Tyr) c.9973G>T (p.Asp3325Tyr) | |
2 | g.169154493C>G | CA349137096 | LRP2 | c.12262G>C (p.Asp4088His) c.3162G>C c.1290G>C (p.Leu430Phe) c.12133G>C (p.Asp4045His) c.9973G>C (p.Asp3325His) | |
2 | g.169154493C>T | CA349137098 | LRP2 | c.12262G>A (p.Asp4088Asn) c.3162G>A c.1290G>A (p.Leu430=) c.12133G>A (p.Asp4045Asn) c.9973G>A (p.Asp3325Asn) | COSMIC |
2 | g.169154494A>C | CA429922556 | LRP2 | c.12261T>G (p.Val4087=) c.3161T>G c.1289T>G (p.Leu430Trp) c.12132T>G (p.Val4044=) c.9972T>G (p.Val3324=) | |
2 | g.169154494A>G | CA429922557 | LRP2 | c.12261T>C (p.Val4087=) c.3161T>C c.1289T>C (p.Leu430Ser) c.12132T>C (p.Val4044=) c.9972T>C (p.Val3324=) | |
2 | g.169154494A>T | CA429922558 | LRP2 | c.12261T>A (p.Val4087=) c.3161T>A c.1289T>A (p.Leu430Ter) c.12132T>A (p.Val4044=) c.9972T>A (p.Val3324=) | |
2 | g.169154495A>C | CA349137102 | LRP2 | c.12260T>G (p.Val4087Gly) c.3160T>G c.1288T>G (p.Leu430Val) c.12131T>G (p.Val4044Gly) c.9971T>G (p.Val3324Gly) | |
2 | g.169154495A>G | CA349137104 | LRP2 | c.12260T>C (p.Val4087Ala) c.3160T>C c.1288T>C (p.Leu430=) c.12131T>C (p.Val4044Ala) c.9971T>C (p.Val3324Ala) | gnomAD v4 |
2 | g.169154495A>T | CA349137106 | LRP2 | c.12260T>A (p.Val4087Asp) c.3160T>A c.1288T>A (p.Leu430Met) c.12131T>A (p.Val4044Asp) c.9971T>A (p.Val3324Asp) | |
2 | g.169154496C>A | CA349137109 | LRP2 | c.12259G>T (p.Val4087Phe) c.3159G>T c.1287G>T (p.Leu429=) c.12130G>T (p.Val4044Phe) c.9970G>T (p.Val3324Phe) | |
2 | g.169154496C>G | CA349137113 | LRP2 | c.12259G>C (p.Val4087Leu) c.3159G>C c.1287G>C (p.Leu429=) c.12130G>C (p.Val4044Leu) c.9970G>C (p.Val3324Leu) | |
2 | g.169154496C>T | CA349137112 | LRP2 | c.12259G>A (p.Val4087Ile) c.3159G>A c.1287G>A (p.Leu429=) c.12130G>A (p.Val4044Ile) c.9970G>A (p.Val3324Ile) | gnomAD v4 |
2 | g.169154497A>C | CA429922559 | LRP2 | c.12258T>G (p.Ala4086=) c.3158T>G c.1286T>G (p.Leu429Arg) c.12129T>G (p.Ala4043=) c.9969T>G (p.Ala3323=) | |
2 | g.169154497A>G | CA429922560 | LRP2 | c.12258T>C (p.Ala4086=) c.3158T>C c.1286T>C (p.Leu429Pro) c.12129T>C (p.Ala4043=) c.9969T>C (p.Ala3323=) | |
2 | g.169154497A>T | CA429922561 | LRP2 | c.12258T>A (p.Ala4086=) c.3158T>A c.1286T>A (p.Leu429Gln) c.12129T>A (p.Ala4043=) c.9969T>A (p.Ala3323=) | |
2 | g.169154498G>A | CA349137114 | LRP2 | c.12257C>T (p.Ala4086Val) c.3157C>T c.1285C>T (p.Leu429=) c.12128C>T (p.Ala4043Val) c.9968C>T (p.Ala3323Val) | |
2 | g.169154498G>C | CA349137116 | LRP2 | c.12257C>G (p.Ala4086Gly) c.3157C>G c.1285C>G (p.Leu429Val) c.12128C>G (p.Ala4043Gly) c.9968C>G (p.Ala3323Gly) | |
2 | g.169154498G= | CA1306305589 | LRP2 | c.12257C= (p.Ala4086=) c.3157C= c.1285C= (p.Leu429=) c.12128C= (p.Ala4043=) c.9968C= (p.Ala3323=) | |
2 | g.169154498G>T | CA1952855 | LRP2 | c.12257C>A (p.Ala4086Asp) c.3157C>A c.1285C>A (p.Leu429Met) c.12128C>A (p.Ala4043Asp) c.9968C>A (p.Ala3323Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154499C>A | CA349137119 | LRP2 | c.12256G>T (p.Ala4086Ser) c.3156G>T c.1284G>T (p.Lys428Asn) c.12127G>T (p.Ala4043Ser) c.9967G>T (p.Ala3323Ser) | |
2 | g.169154499C>G | CA349137122 | LRP2 | c.12256G>C (p.Ala4086Pro) c.3156G>C c.1284G>C (p.Lys428Asn) c.12127G>C (p.Ala4043Pro) c.9967G>C (p.Ala3323Pro) | |
2 | g.169154499C>T | CA349137123 | LRP2 | c.12256G>A (p.Ala4086Thr) c.3156G>A c.1284G>A (p.Lys428=) c.12127G>A (p.Ala4043Thr) c.9967G>A (p.Ala3323Thr) | gnomAD v4 |
2 | g.169154500T>A | CA349137125 | LRP2 | c.12255A>T (p.Gln4085His) c.3155A>T c.1283A>T (p.Lys428Met) c.12126A>T (p.Gln4042His) c.9966A>T (p.Gln3322His) | |
2 | g.169154500T>C | CA429922562 | LRP2 | c.12255A>G (p.Gln4085=) c.3155A>G c.1283A>G (p.Lys428Arg) c.12126A>G (p.Gln4042=) c.9966A>G (p.Gln3322=) | |
2 | g.169154500T>G | CA349137126 | LRP2 | c.12255A>C (p.Gln4085His) c.3155A>C c.1283A>C (p.Lys428Thr) c.12126A>C (p.Gln4042His) c.9966A>C (p.Gln3322His) | |
2 | g.169154501T>A | CA349137129 | LRP2 | c.12254A>T (p.Gln4085Leu) c.3154A>T c.1282A>T (p.Lys428Ter) c.12125A>T (p.Gln4042Leu) c.9965A>T (p.Gln3322Leu) | |
2 | g.169154501T>C | CA349137132 | LRP2 | c.12254A>G (p.Gln4085Arg) c.3154A>G c.1282A>G (p.Lys428Glu) c.12125A>G (p.Gln4042Arg) c.9965A>G (p.Gln3322Arg) | gnomAD v4 |
2 | g.169154501T>G | CA349137133 | LRP2 | c.12254A>C (p.Gln4085Pro) c.3154A>C c.1282A>C (p.Lys428Gln) c.12125A>C (p.Gln4042Pro) c.9965A>C (p.Gln3322Pro) | |
2 | g.169154502G>A | CA349137137 | LRP2 | c.12253C>T (p.Gln4085Ter) c.3153C>T c.1281C>T (p.Ser427=) c.12124C>T (p.Gln4042Ter) c.9964C>T (p.Gln3322Ter) | COSMIC |
2 | g.169154502G>C | CA349137139 | LRP2 | c.12253C>G (p.Gln4085Glu) c.3153C>G c.1281C>G (p.Ser427=) c.12124C>G (p.Gln4042Glu) c.9964C>G (p.Gln3322Glu) | |
2 | g.169154502G>T | CA349137135 | LRP2 | c.12253C>A (p.Gln4085Lys) c.3153C>A c.1281C>A (p.Ser427=) c.12124C>A (p.Gln4042Lys) c.9964C>A (p.Gln3322Lys) | gnomAD v4 |
2 | g.169154503G>A | CA429922564 | LRP2 | c.12252C>T (p.Ile4084=) c.3152C>T c.1280C>T (p.Ser427Phe) c.12123C>T (p.Ile4041=) c.9963C>T (p.Ile3321=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154503G>C | CA349137142 | LRP2 | c.12252C>G (p.Ile4084Met) c.3152C>G c.1280C>G (p.Ser427Cys) c.12123C>G (p.Ile4041Met) c.9963C>G (p.Ile3321Met) | |
2 | g.169154503G= | CA1306305592 | LRP2 | c.12252C= (p.Ile4084=) c.3152C= c.1280C= (p.Ser427=) c.12123C= (p.Ile4041=) c.9963C= (p.Ile3321=) | |
2 | g.169154503G>T | CA429922563 | LRP2 | c.12252C>A (p.Ile4084=) c.3152C>A c.1280C>A (p.Ser427Tyr) c.12123C>A (p.Ile4041=) c.9963C>A (p.Ile3321=) | |
2 | g.169154504A>C | CA349137145 | LRP2 | c.12251T>G (p.Ile4084Ser) c.3151T>G c.1279T>G (p.Ser427Ala) c.12122T>G (p.Ile4041Ser) c.9962T>G (p.Ile3321Ser) | |
2 | g.169154504A>G | CA349137147 | LRP2 | c.12251T>C (p.Ile4084Thr) c.3151T>C c.1279T>C (p.Ser427Pro) c.12122T>C (p.Ile4041Thr) c.9962T>C (p.Ile3321Thr) | |
2 | g.169154504A>T | CA349137154 | LRP2 | c.12251T>A (p.Ile4084Asn) c.3151T>A c.1279T>A (p.Ser427Thr) c.12122T>A (p.Ile4041Asn) c.9962T>A (p.Ile3321Asn) | |
2 | g.169154505T>A | CA349137156 | LRP2 | c.12250A>T (p.Ile4084Phe) c.3150A>T c.1278A>T (p.Ile426=) c.12121A>T (p.Ile4041Phe) c.9961A>T (p.Ile3321Phe) | |
2 | g.169154505T>C | CA349137159 | LRP2 | c.12250A>G (p.Ile4084Val) c.3150A>G c.1278A>G (p.Ile426Met) c.12121A>G (p.Ile4041Val) c.9961A>G (p.Ile3321Val) | |
2 | g.169154505T>G | CA349137160 | LRP2 | c.12250A>C (p.Ile4084Leu) c.3150A>C c.1278A>C (p.Ile426=) c.12121A>C (p.Ile4041Leu) c.9961A>C (p.Ile3321Leu) | |
2 | g.169154506A= | CA1306305597 | LRP2 | c.12249T= (p.Tyr4083=) c.3149T= c.1277T= (p.Ile426=) c.12120T= (p.Tyr4040=) c.9960T= (p.Tyr3320=) | |
2 | g.169154506A>C | CA349137164 | LRP2 | c.12249T>G (p.Tyr4083Ter) c.3149T>G c.1277T>G (p.Ile426Arg) c.12120T>G (p.Tyr4040Ter) c.9960T>G (p.Tyr3320Ter) | |
2 | g.169154506A>G | CA1952856 | LRP2 | c.12249T>C (p.Tyr4083=) c.3149T>C c.1277T>C (p.Ile426Thr) c.12120T>C (p.Tyr4040=) c.9960T>C (p.Tyr3320=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154506A>T | CA349137167 | LRP2 | c.12249T>A (p.Tyr4083Ter) c.3149T>A c.1277T>A (p.Ile426Lys) c.12120T>A (p.Tyr4040Ter) c.9960T>A (p.Tyr3320Ter) | |
2 | g.169154507T>A | CA349137172 | LRP2 | c.12248A>T (p.Tyr4083Phe) c.3148A>T c.1276A>T (p.Ile426Leu) c.12119A>T (p.Tyr4040Phe) c.9959A>T (p.Tyr3320Phe) | dbSNP |
2 | g.169154507T>C | CA349137174 | LRP2 | c.12248A>G (p.Tyr4083Cys) c.3148A>G c.1276A>G (p.Ile426Val) c.12119A>G (p.Tyr4040Cys) c.9959A>G (p.Tyr3320Cys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154507T>G | CA349137176 | LRP2 | c.12248A>C (p.Tyr4083Ser) c.3148A>C c.1276A>C (p.Ile426Leu) c.12119A>C (p.Tyr4040Ser) c.9959A>C (p.Tyr3320Ser) | |
2 | g.169154507T= | CA1306305602 | LRP2 | c.12248A= (p.Tyr4083=) c.3148A= c.1276A= (p.Ile426=) c.12119A= (p.Tyr4040=) c.9959A= (p.Tyr3320=) | |
2 | g.169154508A= | CA1306305604 | LRP2 | c.12247T= (p.Tyr4083=) c.3147T= c.1275T= (p.Asn425=) c.12118T= (p.Tyr4040=) c.9958T= (p.Tyr3320=) | |
2 | g.169154508A>C | CA349137183 | LRP2 | c.12247T>G (p.Tyr4083Asp) c.3147T>G c.1275T>G (p.Asn425Lys) c.12118T>G (p.Tyr4040Asp) c.9958T>G (p.Tyr3320Asp) | |
2 | g.169154508A>G | CA349137182 | LRP2 | c.12247T>C (p.Tyr4083His) c.3147T>C c.1275T>C (p.Asn425=) c.12118T>C (p.Tyr4040His) c.9958T>C (p.Tyr3320His) | |
2 | g.169154508A>T | CA349137179 | LRP2 | c.12247T>A (p.Tyr4083Asn) c.3147T>A c.1275T>A (p.Asn425Lys) c.12118T>A (p.Tyr4040Asn) c.9958T>A (p.Tyr3320Asn) | dbSNP |
2 | g.169154509T>A | CA349137185 | LRP2 | c.12246A>T (p.Glu4082Asp) c.3146A>T c.1274A>T (p.Asn425Ile) c.12117A>T (p.Glu4039Asp) c.9957A>T (p.Glu3319Asp) | gnomAD v4 |
2 | g.169154509T>C | CA429922566 | LRP2 | c.12246A>G (p.Glu4082=) c.3146A>G c.1274A>G (p.Asn425Ser) c.12117A>G (p.Glu4039=) c.9957A>G (p.Glu3319=) | gnomAD v4 |
2 | g.169154509T>G | CA349137189 | LRP2 | c.12246A>C (p.Glu4082Asp) c.3146A>C c.1274A>C (p.Asn425Thr) c.12117A>C (p.Glu4039Asp) c.9957A>C (p.Glu3319Asp) | |
2 | g.169154510T>A | CA349137191 | LRP2 | c.12245A>T (p.Glu4082Val) c.3145A>T c.1273A>T (p.Asn425Tyr) c.12116A>T (p.Glu4039Val) c.9956A>T (p.Glu3319Val) | |
2 | g.169154510T>C | CA349137193 | LRP2 | c.12245A>G (p.Glu4082Gly) c.3145A>G c.1273A>G (p.Asn425Asp) c.12116A>G (p.Glu4039Gly) c.9956A>G (p.Glu3319Gly) | |
2 | g.169154510T>G | CA349137196 | LRP2 | c.12245A>C (p.Glu4082Ala) c.3145A>C c.1273A>C (p.Asn425His) c.12116A>C (p.Glu4039Ala) c.9956A>C (p.Glu3319Ala) | |
2 | g.169154510_169154520del | CA2753099795 | LRP2 | c.12235_12245del (p.Gln4079IlefsTer6) c.3135_3145del c.1263_1273del (p.Phe421LeufsTer?) c.12106_12116del (p.Gln4036IlefsTer6) c.9946_9956del (p.Gln3316IlefsTer6) | |
2 | g.169154511C>A | CA16604061 | LRP2 | c.12244G>T (p.Glu4082Ter) c.3144G>T c.1272G>T (p.Arg424Ser) c.12115G>T (p.Glu4039Ter) c.9955G>T (p.Glu3319Ter) | ClinVar dbSNP |
2 | g.169154511C= | CA1306305607 | LRP2 | c.12244G= (p.Glu4082=) c.3144G= c.1272G= (p.Arg424=) c.12115G= (p.Glu4039=) c.9955G= (p.Glu3319=) | |
2 | g.169154511C>G | CA349137200 | LRP2 | c.12244G>C (p.Glu4082Gln) c.3144G>C c.1272G>C (p.Arg424Ser) c.12115G>C (p.Glu4039Gln) c.9955G>C (p.Glu3319Gln) | gnomAD v4 |
2 | g.169154511C>T | CA349137205 | LRP2 | c.12244G>A (p.Glu4082Lys) c.3144G>A c.1272G>A (p.Arg424=) c.12115G>A (p.Glu4039Lys) c.9955G>A (p.Glu3319Lys) | dbSNP COSMIC |
2 | g.169154511_169154512insT | CA2661815133 | LRP2 | c.12243_12244insA (p.Glu4082ArgfsTer7) c.3143_3144insA c.1271_1272insA (p.Asn425GlufsTer?) c.12114_12115insA (p.Glu4039ArgfsTer7) c.9954_9955insA (p.Glu3319ArgfsTer7) | gnomAD v4 |
2 | g.169154511_169154512insAA | CA2661815132 | LRP2 | c.12243_12244insTT (p.Glu4082LeufsTer16) c.3143_3144insTT c.1271_1272insTT (p.Arg424SerfsTer2) c.12114_12115insTT (p.Glu4039LeufsTer16) c.9954_9955insTT (p.Glu3319LeufsTer16) | gnomAD v4 |
2 | g.169154512C>A | CA349137207 | LRP2 | c.12243G>T (p.Glu4081Asp) c.3143G>T c.1271G>T (p.Arg424Met) c.12114G>T (p.Glu4038Asp) c.9954G>T (p.Glu3318Asp) | |
2 | g.169154512C= | CA1306305613 | LRP2 | c.12243G= (p.Glu4081=) c.3143G= c.1271G= (p.Arg424=) c.12114G= (p.Glu4038=) c.9954G= (p.Glu3318=) | |
2 | g.169154512C>G | CA349137209 | LRP2 | c.12243G>C (p.Glu4081Asp) c.3143G>C c.1271G>C (p.Arg424Thr) c.12114G>C (p.Glu4038Asp) c.9954G>C (p.Glu3318Asp) | gnomAD v4 |
2 | g.169154512C>T | CA1952857 | LRP2 | c.12243G>A (p.Glu4081=) c.3143G>A c.1271G>A (p.Arg424Lys) c.12114G>A (p.Glu4038=) c.9954G>A (p.Glu3318=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154513T>A | CA349137213 | LRP2 | c.12242A>T (p.Glu4081Val) c.3142A>T c.1270A>T (p.Arg424Trp) c.12113A>T (p.Glu4038Val) c.9953A>T (p.Glu3318Val) | |
2 | g.169154513T>C | CA349137215 | LRP2 | c.12242A>G (p.Glu4081Gly) c.3142A>G c.1270A>G (p.Arg424Gly) c.12113A>G (p.Glu4038Gly) c.9953A>G (p.Glu3318Gly) | |
2 | g.169154513T>G | CA349137218 | LRP2 | c.12242A>C (p.Glu4081Ala) c.3142A>C c.1270A>C (p.Arg424=) c.12113A>C (p.Glu4038Ala) c.9953A>C (p.Glu3318Ala) | gnomAD v4 |
2 | g.169154514del | CA2661815134 | LRP2 | c.12241del (p.Glu4081ArgfsTer16) c.3141del c.1269del (p.Met423IlefsTer8) c.12112del (p.Glu4038ArgfsTer16) c.9952del (p.Glu3318ArgfsTer16) | gnomAD v4 |
2 | g.169154514C>A | CA349137222 | LRP2 | c.12241G>T (p.Glu4081Ter) c.3141G>T c.1269G>T (p.Met423Ile) c.12112G>T (p.Glu4038Ter) c.9952G>T (p.Glu3318Ter) | gnomAD v4 COSMIC |
2 | g.169154514C>G | CA349137224 | LRP2 | c.12241G>C (p.Glu4081Gln) c.3141G>C c.1269G>C (p.Met423Ile) c.12112G>C (p.Glu4038Gln) c.9952G>C (p.Glu3318Gln) | |
2 | g.169154514C>T | CA349137221 | LRP2 | c.12241G>A (p.Glu4081Lys) c.3141G>A c.1269G>A (p.Met423Ile) c.12112G>A (p.Glu4038Lys) c.9952G>A (p.Glu3318Lys) | gnomAD v4 |
2 | g.169154515A>C | CA349137230 | LRP2 | c.12240T>G (p.Asp4080Glu) c.3140T>G c.1268T>G (p.Met423Arg) c.12111T>G (p.Asp4037Glu) c.9951T>G (p.Asp3317Glu) | |
2 | g.169154515A>G | CA429922569 | LRP2 | c.12240T>C (p.Asp4080=) c.3140T>C c.1268T>C (p.Met423Thr) c.12111T>C (p.Asp4037=) c.9951T>C (p.Asp3317=) | |
2 | g.169154515A>T | CA349137227 | LRP2 | c.12240T>A (p.Asp4080Glu) c.3140T>A c.1268T>A (p.Met423Lys) c.12111T>A (p.Asp4037Glu) c.9951T>A (p.Asp3317Glu) | |
2 | g.169154516T>A | CA349137236 | LRP2 | c.12239A>T (p.Asp4080Val) c.3139A>T c.1267A>T (p.Met423Leu) c.12110A>T (p.Asp4037Val) c.9950A>T (p.Asp3317Val) | gnomAD v4 |
2 | g.169154516T>C | CA349137233 | LRP2 | c.12239A>G (p.Asp4080Gly) c.3139A>G c.1267A>G (p.Met423Val) c.12110A>G (p.Asp4037Gly) c.9950A>G (p.Asp3317Gly) | |
2 | g.169154516T>G | CA349137237 | LRP2 | c.12239A>C (p.Asp4080Ala) c.3139A>C c.1267A>C (p.Met423Leu) c.12110A>C (p.Asp4037Ala) c.9950A>C (p.Asp3317Ala) | |
2 | g.169154517C>A | CA349137238 | LRP2 | c.12238G>T (p.Asp4080Tyr) c.3138G>T c.1266G>T (p.Lys422Asn) c.12109G>T (p.Asp4037Tyr) c.9949G>T (p.Asp3317Tyr) | dbSNP |
2 | g.169154517C= | CA1306305621 | LRP2 | c.12238G= (p.Asp4080=) c.3138G= c.1266G= (p.Lys422=) c.12109G= (p.Asp4037=) c.9949G= (p.Asp3317=) | |
2 | g.169154517C>G | CA349137241 | LRP2 | c.12238G>C (p.Asp4080His) c.3138G>C c.1266G>C (p.Lys422Asn) c.12109G>C (p.Asp4037His) c.9949G>C (p.Asp3317His) | gnomAD v4 |
2 | g.169154517C>T | CA349137243 | LRP2 | c.12238G>A (p.Asp4080Asn) c.3138G>A c.1266G>A (p.Lys422=) c.12109G>A (p.Asp4037Asn) c.9949G>A (p.Asp3317Asn) | dbSNP |
2 | g.169154518T>A | CA349137245 | LRP2 | c.12237A>T (p.Gln4079His) c.3137A>T c.1265A>T (p.Lys422Met) c.12108A>T (p.Gln4036His) c.9948A>T (p.Gln3316His) | |
2 | g.169154518T>C | CA429922570 | LRP2 | c.12237A>G (p.Gln4079=) c.3137A>G c.1265A>G (p.Lys422Arg) c.12108A>G (p.Gln4036=) c.9948A>G (p.Gln3316=) | |
2 | g.169154518T>G | CA349137247 | LRP2 | c.12237A>C (p.Gln4079His) c.3137A>C c.1265A>C (p.Lys422Thr) c.12108A>C (p.Gln4036His) c.9948A>C (p.Gln3316His) | |
2 | g.169154519T>A | CA349137260 | LRP2 | c.12236A>T (p.Gln4079Leu) c.3136A>T c.1264A>T (p.Lys422Ter) c.12107A>T (p.Gln4036Leu) c.9947A>T (p.Gln3316Leu) | |
2 | g.169154519T>C | CA349137259 | LRP2 | c.12236A>G (p.Gln4079Arg) c.3136A>G c.1264A>G (p.Lys422Glu) c.12107A>G (p.Gln4036Arg) c.9947A>G (p.Gln3316Arg) | |
2 | g.169154519T>G | CA349137256 | LRP2 | c.12236A>C (p.Gln4079Pro) c.3136A>C c.1264A>C (p.Lys422Gln) c.12107A>C (p.Gln4036Pro) c.9947A>C (p.Gln3316Pro) | |
2 | g.169154520G>A | CA349137263 | LRP2 | c.12235C>T (p.Gln4079Ter) c.3135C>T c.1263C>T (p.Phe421=) c.12106C>T (p.Gln4036Ter) c.9946C>T (p.Gln3316Ter) | dbSNP COSMIC |
2 | g.169154520G>C | CA349137265 | LRP2 | c.12235C>G (p.Gln4079Glu) c.3135C>G c.1263C>G (p.Phe421Leu) c.12106C>G (p.Gln4036Glu) c.9946C>G (p.Gln3316Glu) | |
2 | g.169154520G>T | CA349137268 | LRP2 | c.12235C>A (p.Gln4079Lys) c.3135C>A c.1263C>A (p.Phe421Leu) c.12106C>A (p.Gln4036Lys) c.9946C>A (p.Gln3316Lys) | |
2 | g.169154521A>C | CA429922571 | LRP2 | c.12234T>G (p.Leu4078=) c.3134T>G c.1262T>G (p.Phe421Cys) c.12105T>G (p.Leu4035=) c.9945T>G (p.Leu3315=) | |
2 | g.169154521A>G | CA429922572 | LRP2 | c.12234T>C (p.Leu4078=) c.3134T>C c.1262T>C (p.Phe421Ser) c.12105T>C (p.Leu4035=) c.9945T>C (p.Leu3315=) | |
2 | g.169154521A>T | CA429922573 | LRP2 | c.12234T>A (p.Leu4078=) c.3134T>A c.1262T>A (p.Phe421Tyr) c.12105T>A (p.Leu4035=) c.9945T>A (p.Leu3315=) |