Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.169154448G>TCA2661815124LRP2c.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
2g.169154451dupCA2661815125LRP2c.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
2g.169154451T>ACA2661815126LRP2c.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
2g.169154452A=CA1306305533LRP2c.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=)
2g.169154452A>GCA1952848LRP2c.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
2g.169154453T>CCA1952849LRP2c.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
2g.169154453T=CA1306305536LRP2c.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=)
2g.169154455C>TCA2577149105LRP2c.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
2g.169154458_169154459delCA2661815127LRP2c.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
2g.169154458A>CCA349136884LRP2c.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)
2g.169154458A>GCA349136886LRP2c.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)
2g.169154458A>TCA349136887LRP2c.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)
2g.169154459C>ACA349136888LRP2c.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)
2g.169154459C>GCA349136891LRP2c.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)
2g.169154459C>TCA349136889LRP2c.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)
2g.169154460T>ACA349136894LRP2c.12295A>T (p.Ser4099Cys)
c.3195A>T
c.1323A>T (n.1323A>T)
c.12166A>T (p.Ser4056Cys)
c.10006A>T (p.Ser3336Cys)
2g.169154460T>CCA349136897LRP2c.12295A>G (p.Ser4099Gly)
c.3195A>G
c.1323A>G (n.1323A>G)
c.12166A>G (p.Ser4056Gly)
c.10006A>G (p.Ser3336Gly)
2g.169154460T>GCA59898055LRP2c.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
2g.169154460T=CA1306305543LRP2c.12295A= (p.Ser4099=)
c.3195A=
c.1323A= (n.1323A=)
c.12166A= (p.Ser4056=)
c.10006A= (p.Ser3336=)
2g.169154461G>ACA429922541LRP2c.12294C>T (p.Leu4098=)
c.3194C>T
c.1322C>T (n.1322C>T)
c.12165C>T (p.Leu4055=)
c.10005C>T (p.Leu3335=)
2g.169154461G>CCA429922540LRP2c.12294C>G (p.Leu4098=)
c.3194C>G
c.1322C>G (n.1322C>G)
c.12165C>G (p.Leu4055=)
c.10005C>G (p.Leu3335=)
2g.169154461G>TCA429922542LRP2c.12294C>A (p.Leu4098=)
c.3194C>A
c.1322C>A (n.1322C>A)
c.12165C>A (p.Leu4055=)
c.10005C>A (p.Leu3335=)
2g.169154462A>CCA349136902LRP2c.12293T>G (p.Leu4098Arg)
c.3193T>G
c.1321T>G (n.1321T>G)
c.12164T>G (p.Leu4055Arg)
c.10004T>G (p.Leu3335Arg)
2g.169154462A>GCA349136908LRP2c.12293T>C (p.Leu4098Pro)
c.3193T>C
c.1321T>C (n.1321T>C)
c.12164T>C (p.Leu4055Pro)
c.10004T>C (p.Leu3335Pro)
2g.169154462A>TCA349136910LRP2c.12293T>A (p.Leu4098His)
c.3193T>A
c.1321T>A (n.1321T>A)
c.12164T>A (p.Leu4055His)
c.10004T>A (p.Leu3335His)
 dbSNP
2g.169154463G>ACA349136911LRP2c.12292C>T (p.Leu4098Phe)
c.3192C>T
c.1320C>T (n.1320C>T)
c.12163C>T (p.Leu4055Phe)
c.10003C>T (p.Leu3335Phe)
2g.169154463G>CCA349136914LRP2c.12292C>G (p.Leu4098Val)
c.3192C>G
c.1320C>G (n.1320C>G)
c.12163C>G (p.Leu4055Val)
c.10003C>G (p.Leu3335Val)
2g.169154463G>TCA349136916LRP2c.12292C>A (p.Leu4098Ile)
c.3192C>A
c.1320C>A (n.1320C>A)
c.12163C>A (p.Leu4055Ile)
c.10003C>A (p.Leu3335Ile)
2g.169154464G>ACA429922544LRP2c.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
2g.169154464G>CCA429922545LRP2c.12291C>G (p.Gly4097=)
c.3191C>G
c.1319C>G (n.1319C>G)
c.12162C>G (p.Gly4054=)
c.10002C>G (p.Gly3334=)
2g.169154464G=CA1306305545LRP2c.12291C= (p.Gly4097=)
c.3191C=
c.1319C= (n.1319C=)
c.12162C= (p.Gly4054=)
c.10002C= (p.Gly3334=)
2g.169154464G>TCA1952850LRP2c.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
2g.169154465C>ACA349136933LRP2c.12290G>T (p.Gly4097Val)
c.3190G>T
c.1318G>T (n.1318G>T)
c.12161G>T (p.Gly4054Val)
c.10001G>T (p.Gly3334Val)
2g.169154465C>GCA349136931LRP2c.12290G>C (p.Gly4097Ala)
c.3190G>C
c.1318G>C (n.1318G>C)
c.12161G>C (p.Gly4054Ala)
c.10001G>C (p.Gly3334Ala)
2g.169154465C>TCA349136922LRP2c.12290G>A (p.Gly4097Asp)
c.3190G>A
c.1318G>A (n.1318G>A)
c.12161G>A (p.Gly4054Asp)
c.10001G>A (p.Gly3334Asp)
2g.169154466C>ACA349136937LRP2c.12289G>T (p.Gly4097Cys)
c.3189G>T
c.1317G>T (p.Ter439Tyr)
c.12160G>T (p.Gly4054Cys)
c.10000G>T (p.Gly3334Cys)
2g.169154466C>GCA349136941LRP2c.12289G>C (p.Gly4097Arg)
c.3189G>C
c.1317G>C (p.Ter439Tyr)
c.12160G>C (p.Gly4054Arg)
c.10000G>C (p.Gly3334Arg)
2g.169154466C>TCA349136939LRP2c.12289G>A (p.Gly4097Ser)
c.3189G>A
c.1317G>A (p.Ter439=)
c.12160G>A (p.Gly4054Ser)
c.10000G>A (p.Gly3334Ser)
 gnomAD v4
2g.169154467T>ACA429922546LRP2c.12288A>T (p.Ile4096=)
c.3188A>T
c.1316A>T (p.Ter439Leu)
c.12159A>T (p.Ile4053=)
c.9999A>T (p.Ile3333=)
2g.169154467T>CCA349136942LRP2c.12288A>G (p.Ile4096Met)
c.3188A>G
c.1316A>G (p.Ter439Trp)
c.12159A>G (p.Ile4053Met)
c.9999A>G (p.Ile3333Met)
2g.169154467T>GCA429922547LRP2c.12288A>C (p.Ile4096=)
c.3188A>C
c.1316A>C (p.Ter439Ser)
c.12159A>C (p.Ile4053=)
c.9999A>C (p.Ile3333=)
2g.169154468A=CA1306305551LRP2c.12287T= (p.Ile4096=)
c.3187T=
c.1315T= (p.Ter439=)
c.12158T= (p.Ile4053=)
c.9998T= (p.Ile3333=)
2g.169154468A>CCA349136949LRP2c.12287T>G (p.Ile4096Arg)
c.3187T>G
c.1315T>G (p.Ter439Glu)
c.12158T>G (p.Ile4053Arg)
c.9998T>G (p.Ile3333Arg)
2g.169154468A>GCA1952851LRP2c.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
2g.169154468A>TCA349136946LRP2c.12287T>A (p.Ile4096Lys)
c.3187T>A
c.1315T>A (p.Ter439Lys)
c.12158T>A (p.Ile4053Lys)
c.9998T>A (p.Ile3333Lys)
2g.169154469T>ACA349136951LRP2c.12286A>T (p.Ile4096Leu)
c.3186A>T
c.1314A>T (p.Thr438=)
c.12157A>T (p.Ile4053Leu)
c.9997A>T (p.Ile3333Leu)
2g.169154469T>CCA1952852LRP2c.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
2g.169154469T>GCA349136954LRP2c.12286A>C (p.Ile4096Leu)
c.3186A>C
c.1314A>C (p.Thr438=)
c.12157A>C (p.Ile4053Leu)
c.9997A>C (p.Ile3333Leu)
 dbSNP
2g.169154469T=CA1306305557LRP2c.12286A= (p.Ile4096=)
c.3186A=
c.1314A= (p.Thr438=)
c.12157A= (p.Ile4053=)
c.9997A= (p.Ile3333=)
2g.169154470G>ACA429922548LRP2c.12285C>T (p.Asp4095=)
c.3185C>T
c.1313C>T (p.Thr438Ile)
c.12156C>T (p.Asp4052=)
c.9996C>T (p.Asp3332=)
2g.169154470G>CCA349136956LRP2c.12285C>G (p.Asp4095Glu)
c.3185C>G
c.1313C>G (p.Thr438Arg)
c.12156C>G (p.Asp4052Glu)
c.9996C>G (p.Asp3332Glu)
 dbSNP
2g.169154470G>TCA349136958LRP2c.12285C>A (p.Asp4095Glu)
c.3185C>A
c.1313C>A (p.Thr438Lys)
c.12156C>A (p.Asp4052Glu)
c.9996C>A (p.Asp3332Glu)
2g.169154471T>ACA59898091LRP2c.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
2g.169154471T>CCA349136962LRP2c.12284A>G (p.Asp4095Gly)
c.3184A>G
c.1312A>G (p.Thr438Ala)
c.12155A>G (p.Asp4052Gly)
c.9995A>G (p.Asp3332Gly)
2g.169154471T>GCA349136966LRP2c.12284A>C (p.Asp4095Ala)
c.3184A>C
c.1312A>C (p.Thr438Pro)
c.12155A>C (p.Asp4052Ala)
c.9995A>C (p.Asp3332Ala)
2g.169154471T=CA1306305562LRP2c.12284A= (p.Asp4095=)
c.3184A=
c.1312A= (p.Thr438=)
c.12155A= (p.Asp4052=)
c.9995A= (p.Asp3332=)
2g.169154472C>ACA349136968LRP2c.12283G>T (p.Asp4095Tyr)
c.3183G>T
c.1311G>T (p.Arg437Ser)
c.12154G>T (p.Asp4052Tyr)
c.9994G>T (p.Asp3332Tyr)
2g.169154472C>GCA349136972LRP2c.12283G>C (p.Asp4095His)
c.3183G>C
c.1311G>C (p.Arg437Ser)
c.12154G>C (p.Asp4052His)
c.9994G>C (p.Asp3332His)
 dbSNP
2g.169154472C>TCA349136973LRP2c.12283G>A (p.Asp4095Asn)
c.3183G>A
c.1311G>A (p.Arg437=)
c.12154G>A (p.Asp4052Asn)
c.9994G>A (p.Asp3332Asn)
2g.169154473C>ACA349136974LRP2c.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
2g.169154473C=CA1306305569LRP2c.12282G= (p.Lys4094=)
c.3182G=
c.1310G= (p.Arg437=)
c.12153G= (p.Lys4051=)
c.9993G= (p.Lys3331=)
2g.169154473C>GCA1952853LRP2c.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
2g.169154473C>TCA429922549LRP2c.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
2g.169154474T>ACA349136978LRP2c.12281A>T (p.Lys4094Met)
c.3181A>T
c.1309A>T (p.Arg437Trp)
c.12152A>T (p.Lys4051Met)
c.9992A>T (p.Lys3331Met)
2g.169154474T>CCA349136980LRP2c.12281A>G (p.Lys4094Arg)
c.3181A>G
c.1309A>G (p.Arg437Gly)
c.12152A>G (p.Lys4051Arg)
c.9992A>G (p.Lys3331Arg)
2g.169154474T>GCA349136983LRP2c.12281A>C (p.Lys4094Thr)
c.3181A>C
c.1309A>C (p.Arg437=)
c.12152A>C (p.Lys4051Thr)
c.9992A>C (p.Lys3331Thr)
2g.169154475T>ACA349136984LRP2c.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
2g.169154475T>CCA153548LRP2c.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
2g.169154475T>GCA349136993LRP2c.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
2g.169154475T=CA1306305573LRP2c.12280A= (p.Lys4094=)
c.3180A=
c.1308A= (p.Pro436=)
c.12151A= (p.Lys4051=)
c.9991A= (p.Lys3331=)
2g.169154475_169154476delinsCACA2573133591LRP2c.12279_12280delinsTG (p.Lys4094Glu)
c.3179_3180delinsTG
c.1307_1308delinsTG (p.Pro436Leu)
c.12150_12151delinsTG (p.Lys4051Glu)
c.9990_9991delinsTG (p.Lys3331Glu)
 ClinVar
2g.169154476G>ACA1952854LRP2c.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
2g.169154476G>CCA429922550LRP2c.12279C>G (p.Pro4093=)
c.3179C>G
c.1307C>G (p.Pro436Arg)
c.12150C>G (p.Pro4050=)
c.9990C>G (p.Pro3330=)
2g.169154476G=CA1306305578LRP2c.12279C= (p.Pro4093=)
c.3179C=
c.1307C= (p.Pro436=)
c.12150C= (p.Pro4050=)
c.9990C= (p.Pro3330=)
2g.169154476G>TCA429922551LRP2c.12279C>A (p.Pro4093=)
c.3179C>A
c.1307C>A (p.Pro436Gln)
c.12150C>A (p.Pro4050=)
c.9990C>A (p.Pro3330=)
2g.169154478delCA2661815128LRP2c.12279del (p.Lys4094ArgfsTer3)
c.3179del
c.1307del (p.Pro436GlnfsTer18)
c.12150del (p.Lys4051ArgfsTer3)
c.9990del (p.Lys3331ArgfsTer3)
 gnomAD v4
2g.169154477G>ACA349136999LRP2c.12278C>T (p.Pro4093Leu)
c.3178C>T
c.1306C>T (p.Pro436Ser)
c.12149C>T (p.Pro4050Leu)
c.9989C>T (p.Pro3330Leu)
2g.169154477G>CCA349137000LRP2c.12278C>G (p.Pro4093Arg)
c.3178C>G
c.1306C>G (p.Pro436Ala)
c.12149C>G (p.Pro4050Arg)
c.9989C>G (p.Pro3330Arg)
2g.169154477G>TCA349137003LRP2c.12278C>A (p.Pro4093His)
c.3178C>A
c.1306C>A (p.Pro436Thr)
c.12149C>A (p.Pro4050His)
c.9989C>A (p.Pro3330His)
 gnomAD v4
2g.169154478G>ACA349137011LRP2c.12277C>T (p.Pro4093Ser)
c.3177C>T
c.1305C>T (p.Ile435=)
c.12148C>T (p.Pro4050Ser)
c.9988C>T (p.Pro3330Ser)
2g.169154478G>CCA349137008LRP2c.12277C>G (p.Pro4093Ala)
c.3177C>G
c.1305C>G (p.Ile435Met)
c.12148C>G (p.Pro4050Ala)
c.9988C>G (p.Pro3330Ala)
2g.169154478G>TCA349137006LRP2c.12277C>A (p.Pro4093Thr)
c.3177C>A
c.1305C>A (p.Ile435=)
c.12148C>A (p.Pro4050Thr)
c.9988C>A (p.Pro3330Thr)
 ClinVar
2g.169154479A>CCA349137013LRP2c.12276T>G (p.Asp4092Glu)
c.3176T>G
c.1304T>G (p.Ile435Ser)
c.12147T>G (p.Asp4049Glu)
c.9987T>G (p.Asp3329Glu)
2g.169154479A>GCA429922552LRP2c.12276T>C (p.Asp4092=)
c.3176T>C
c.1304T>C (p.Ile435Thr)
c.12147T>C (p.Asp4049=)
c.9987T>C (p.Asp3329=)
2g.169154479A>TCA349137016LRP2c.12276T>A (p.Asp4092Glu)
c.3176T>A
c.1304T>A (p.Ile435Asn)
c.12147T>A (p.Asp4049Glu)
c.9987T>A (p.Asp3329Glu)
2g.169154480T>ACA349137018LRP2c.12275A>T (p.Asp4092Val)
c.3175A>T
c.1303A>T (p.Ile435Phe)
c.12146A>T (p.Asp4049Val)
c.9986A>T (p.Asp3329Val)
2g.169154480T>CCA349137020LRP2c.12275A>G (p.Asp4092Gly)
c.3175A>G
c.1303A>G (p.Ile435Val)
c.12146A>G (p.Asp4049Gly)
c.9986A>G (p.Asp3329Gly)
2g.169154480T>GCA349137022LRP2c.12275A>C (p.Asp4092Ala)
c.3175A>C
c.1303A>C (p.Ile435Leu)
c.12146A>C (p.Asp4049Ala)
c.9986A>C (p.Asp3329Ala)
2g.169154481C>ACA349137025LRP2c.12274G>T (p.Asp4092Tyr)
c.3174G>T
c.1302G>T (p.Gly434=)
c.12145G>T (p.Asp4049Tyr)
c.9985G>T (p.Asp3329Tyr)
2g.169154481C>GCA349137027LRP2c.12274G>C (p.Asp4092His)
c.3174G>C
c.1302G>C (p.Gly434=)
c.12145G>C (p.Asp4049His)
c.9985G>C (p.Asp3329His)
2g.169154481C>TCA349137030LRP2c.12274G>A (p.Asp4092Asn)
c.3174G>A
c.1302G>A (p.Gly434=)
c.12145G>A (p.Asp4049Asn)
c.9985G>A (p.Asp3329Asn)
 dbSNP
2g.169154482C>ACA349137034LRP2c.12273G>T (p.Trp4091Cys)
c.3173G>T
c.1301G>T (p.Gly434Val)
c.12144G>T (p.Trp4048Cys)
c.9984G>T (p.Trp3328Cys)
 dbSNP
2g.169154482C>GCA349137035LRP2c.12273G>C (p.Trp4091Cys)
c.3173G>C
c.1301G>C (p.Gly434Ala)
c.12144G>C (p.Trp4048Cys)
c.9984G>C (p.Trp3328Cys)
2g.169154482C>TCA349137038LRP2c.12273G>A (p.Trp4091Ter)
c.3173G>A
c.1301G>A (p.Gly434Glu)
c.12144G>A (p.Trp4048Ter)
c.9984G>A (p.Trp3328Ter)
2g.169154482_169154483insGGCA2661815129LRP2c.12272_12273insCC (p.Trp4091CysfsTer7)
c.3172_3173insCC
c.1300_1301insCC (p.Gly434AlafsTer21)
c.12143_12144insCC (p.Trp4048CysfsTer7)
c.9983_9984insCC (p.Trp3328CysfsTer7)
 gnomAD v4
2g.169154483C>ACA349137042LRP2c.12272G>T (p.Trp4091Leu)
c.3172G>T
c.1300G>T (p.Gly434Trp)
c.12143G>T (p.Trp4048Leu)
c.9983G>T (p.Trp3328Leu)
 gnomAD v4
2g.169154483C>GCA349137041LRP2c.12272G>C (p.Trp4091Ser)
c.3172G>C
c.1300G>C (p.Gly434Arg)
c.12143G>C (p.Trp4048Ser)
c.9983G>C (p.Trp3328Ser)
 gnomAD v4
2g.169154483C>TCA349137040LRP2c.12272G>A (p.Trp4091Ter)
c.3172G>A
c.1300G>A (p.Gly434Arg)
c.12143G>A (p.Trp4048Ter)
c.9983G>A (p.Trp3328Ter)
2g.169154484A>CCA349137043LRP2c.12271T>G (p.Trp4091Gly)
c.3171T>G
c.1299T>G (p.Ile433Met)
c.12142T>G (p.Trp4048Gly)
c.9982T>G (p.Trp3328Gly)
 gnomAD v4
2g.169154484A>GCA349137044LRP2c.12271T>C (p.Trp4091Arg)
c.3171T>C
c.1299T>C (p.Ile433=)
c.12142T>C (p.Trp4048Arg)
c.9982T>C (p.Trp3328Arg)
 gnomAD v4
2g.169154484A>TCA349137046LRP2c.12271T>A (p.Trp4091Arg)
c.3171T>A
c.1299T>A (p.Ile433=)
c.12142T>A (p.Trp4048Arg)
c.9982T>A (p.Trp3328Arg)
 gnomAD v4
2g.169154484_169154485delCA2661815131LRP2c.12270_12271del (p.Asp4090GlufsTer21)
c.3170_3171del
c.1298_1299del (p.Ile433ArgfsTer?)
c.12141_12142del (p.Asp4047GlufsTer21)
c.9981_9982del (p.Asp3327GlufsTer21)
 gnomAD v4
2g.169154489_169154494dupCA2661815130LRP2c.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
2g.169154485A=CA1306305580LRP2c.12270T= (p.Asp4090=)
c.3170T=
c.1298T= (p.Ile433=)
c.12141T= (p.Asp4047=)
c.9981T= (p.Asp3327=)
2g.169154485A>CCA349137048LRP2c.12270T>G (p.Asp4090Glu)
c.3170T>G
c.1298T>G (p.Ile433Ser)
c.12141T>G (p.Asp4047Glu)
c.9981T>G (p.Asp3327Glu)
 gnomAD v4
2g.169154485A>GCA429922553LRP2c.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
2g.169154485A>TCA349137050LRP2c.12270T>A (p.Asp4090Glu)
c.3170T>A
c.1298T>A (p.Ile433Asn)
c.12141T>A (p.Asp4047Glu)
c.9981T>A (p.Asp3327Glu)
 gnomAD v4
2g.169154486T>ACA349137051LRP2c.12269A>T (p.Asp4090Val)
c.3169A>T
c.1297A>T (p.Ile433Phe)
c.12140A>T (p.Asp4047Val)
c.9980A>T (p.Asp3327Val)
2g.169154486T>CCA349137053LRP2c.12269A>G (p.Asp4090Gly)
c.3169A>G
c.1297A>G (p.Ile433Val)
c.12140A>G (p.Asp4047Gly)
c.9980A>G (p.Asp3327Gly)
2g.169154486T>GCA349137055LRP2c.12269A>C (p.Asp4090Ala)
c.3169A>C
c.1297A>C (p.Ile433Leu)
c.12140A>C (p.Asp4047Ala)
c.9980A>C (p.Asp3327Ala)
2g.169154487C>ACA349137058LRP2c.12268G>T (p.Asp4090Tyr)
c.3168G>T
c.1296G>T (p.Met432Ile)
c.12139G>T (p.Asp4047Tyr)
c.9979G>T (p.Asp3327Tyr)
 gnomAD v4
2g.169154487C>GCA349137062LRP2c.12268G>C (p.Asp4090His)
c.3168G>C
c.1296G>C (p.Met432Ile)
c.12139G>C (p.Asp4047His)
c.9979G>C (p.Asp3327His)
2g.169154487C>TCA349137064LRP2c.12268G>A (p.Asp4090Asn)
c.3168G>A
c.1296G>A (p.Met432Ile)
c.12139G>A (p.Asp4047Asn)
c.9979G>A (p.Asp3327Asn)
2g.169154488A=CA1306305583LRP2c.12267T= (p.Tyr4089=)
c.3167T=
c.1295T= (p.Met432=)
c.12138T= (p.Tyr4046=)
c.9978T= (p.Tyr3326=)
2g.169154488A>CCA349137067LRP2c.12267T>G (p.Tyr4089Ter)
c.3167T>G
c.1295T>G (p.Met432Arg)
c.12138T>G (p.Tyr4046Ter)
c.9978T>G (p.Tyr3326Ter)
2g.169154488A>GCA429922554LRP2c.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
2g.169154488A>TCA349137068LRP2c.12267T>A (p.Tyr4089Ter)
c.3167T>A
c.1295T>A (p.Met432Lys)
c.12138T>A (p.Tyr4046Ter)
c.9978T>A (p.Tyr3326Ter)
2g.169154489T>ACA349137070LRP2c.12266A>T (p.Tyr4089Phe)
c.3166A>T
c.1294A>T (p.Met432Leu)
c.12137A>T (p.Tyr4046Phe)
c.9977A>T (p.Tyr3326Phe)
2g.169154489T>CCA349137071LRP2c.12266A>G (p.Tyr4089Cys)
c.3166A>G
c.1294A>G (p.Met432Val)
c.12137A>G (p.Tyr4046Cys)
c.9977A>G (p.Tyr3326Cys)
2g.169154489T>GCA349137069LRP2c.12266A>C (p.Tyr4089Ser)
c.3166A>C
c.1294A>C (p.Met432Leu)
c.12137A>C (p.Tyr4046Ser)
c.9977A>C (p.Tyr3326Ser)
2g.169154490A>CCA349137081LRP2c.12265T>G (p.Tyr4089Asp)
c.3165T>G
c.1293T>G (p.Ile431Met)
c.12136T>G (p.Tyr4046Asp)
c.9976T>G (p.Tyr3326Asp)
2g.169154490A>GCA349137077LRP2c.12265T>C (p.Tyr4089His)
c.3165T>C
c.1293T>C (p.Ile431=)
c.12136T>C (p.Tyr4046His)
c.9976T>C (p.Tyr3326His)
2g.169154490A>TCA349137079LRP2c.12265T>A (p.Tyr4089Asn)
c.3165T>A
c.1293T>A (p.Ile431=)
c.12136T>A (p.Tyr4046Asn)
c.9976T>A (p.Tyr3326Asn)
2g.169154491A=CA1306305586LRP2c.12264T= (p.Asp4088=)
c.3164T=
c.1292T= (p.Ile431=)
c.12135T= (p.Asp4045=)
c.9975T= (p.Asp3325=)
2g.169154491A>CCA349137084LRP2c.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
2g.169154491A>GCA429922555LRP2c.12264T>C (p.Asp4088=)
c.3164T>C
c.1292T>C (p.Ile431Thr)
c.12135T>C (p.Asp4045=)
c.9975T>C (p.Asp3325=)
2g.169154491A>TCA349137085LRP2c.12264T>A (p.Asp4088Glu)
c.3164T>A
c.1292T>A (p.Ile431Asn)
c.12135T>A (p.Asp4045Glu)
c.9975T>A (p.Asp3325Glu)
2g.169154492T>ACA349137088LRP2c.12263A>T (p.Asp4088Val)
c.3163A>T
c.1291A>T (p.Ile431Phe)
c.12134A>T (p.Asp4045Val)
c.9974A>T (p.Asp3325Val)
2g.169154492T>CCA349137090LRP2c.12263A>G (p.Asp4088Gly)
c.3163A>G
c.1291A>G (p.Ile431Val)
c.12134A>G (p.Asp4045Gly)
c.9974A>G (p.Asp3325Gly)
2g.169154492T>GCA349137091LRP2c.12263A>C (p.Asp4088Ala)
c.3163A>C
c.1291A>C (p.Ile431Leu)
c.12134A>C (p.Asp4045Ala)
c.9974A>C (p.Asp3325Ala)
2g.169154493C>ACA349137094LRP2c.12262G>T (p.Asp4088Tyr)
c.3162G>T
c.1290G>T (p.Leu430Phe)
c.12133G>T (p.Asp4045Tyr)
c.9973G>T (p.Asp3325Tyr)
2g.169154493C>GCA349137096LRP2c.12262G>C (p.Asp4088His)
c.3162G>C
c.1290G>C (p.Leu430Phe)
c.12133G>C (p.Asp4045His)
c.9973G>C (p.Asp3325His)
2g.169154493C>TCA349137098LRP2c.12262G>A (p.Asp4088Asn)
c.3162G>A
c.1290G>A (p.Leu430=)
c.12133G>A (p.Asp4045Asn)
c.9973G>A (p.Asp3325Asn)
 COSMIC
2g.169154494A>CCA429922556LRP2c.12261T>G (p.Val4087=)
c.3161T>G
c.1289T>G (p.Leu430Trp)
c.12132T>G (p.Val4044=)
c.9972T>G (p.Val3324=)
2g.169154494A>GCA429922557LRP2c.12261T>C (p.Val4087=)
c.3161T>C
c.1289T>C (p.Leu430Ser)
c.12132T>C (p.Val4044=)
c.9972T>C (p.Val3324=)
2g.169154494A>TCA429922558LRP2c.12261T>A (p.Val4087=)
c.3161T>A
c.1289T>A (p.Leu430Ter)
c.12132T>A (p.Val4044=)
c.9972T>A (p.Val3324=)
2g.169154495A>CCA349137102LRP2c.12260T>G (p.Val4087Gly)
c.3160T>G
c.1288T>G (p.Leu430Val)
c.12131T>G (p.Val4044Gly)
c.9971T>G (p.Val3324Gly)
2g.169154495A>GCA349137104LRP2c.12260T>C (p.Val4087Ala)
c.3160T>C
c.1288T>C (p.Leu430=)
c.12131T>C (p.Val4044Ala)
c.9971T>C (p.Val3324Ala)
 gnomAD v4
2g.169154495A>TCA349137106LRP2c.12260T>A (p.Val4087Asp)
c.3160T>A
c.1288T>A (p.Leu430Met)
c.12131T>A (p.Val4044Asp)
c.9971T>A (p.Val3324Asp)
2g.169154496C>ACA349137109LRP2c.12259G>T (p.Val4087Phe)
c.3159G>T
c.1287G>T (p.Leu429=)
c.12130G>T (p.Val4044Phe)
c.9970G>T (p.Val3324Phe)
2g.169154496C>GCA349137113LRP2c.12259G>C (p.Val4087Leu)
c.3159G>C
c.1287G>C (p.Leu429=)
c.12130G>C (p.Val4044Leu)
c.9970G>C (p.Val3324Leu)
2g.169154496C>TCA349137112LRP2c.12259G>A (p.Val4087Ile)
c.3159G>A
c.1287G>A (p.Leu429=)
c.12130G>A (p.Val4044Ile)
c.9970G>A (p.Val3324Ile)
 gnomAD v4
2g.169154497A>CCA429922559LRP2c.12258T>G (p.Ala4086=)
c.3158T>G
c.1286T>G (p.Leu429Arg)
c.12129T>G (p.Ala4043=)
c.9969T>G (p.Ala3323=)
2g.169154497A>GCA429922560LRP2c.12258T>C (p.Ala4086=)
c.3158T>C
c.1286T>C (p.Leu429Pro)
c.12129T>C (p.Ala4043=)
c.9969T>C (p.Ala3323=)
2g.169154497A>TCA429922561LRP2c.12258T>A (p.Ala4086=)
c.3158T>A
c.1286T>A (p.Leu429Gln)
c.12129T>A (p.Ala4043=)
c.9969T>A (p.Ala3323=)
2g.169154498G>ACA349137114LRP2c.12257C>T (p.Ala4086Val)
c.3157C>T
c.1285C>T (p.Leu429=)
c.12128C>T (p.Ala4043Val)
c.9968C>T (p.Ala3323Val)
2g.169154498G>CCA349137116LRP2c.12257C>G (p.Ala4086Gly)
c.3157C>G
c.1285C>G (p.Leu429Val)
c.12128C>G (p.Ala4043Gly)
c.9968C>G (p.Ala3323Gly)
2g.169154498G=CA1306305589LRP2c.12257C= (p.Ala4086=)
c.3157C=
c.1285C= (p.Leu429=)
c.12128C= (p.Ala4043=)
c.9968C= (p.Ala3323=)
2g.169154498G>TCA1952855LRP2c.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
2g.169154499C>ACA349137119LRP2c.12256G>T (p.Ala4086Ser)
c.3156G>T
c.1284G>T (p.Lys428Asn)
c.12127G>T (p.Ala4043Ser)
c.9967G>T (p.Ala3323Ser)
2g.169154499C>GCA349137122LRP2c.12256G>C (p.Ala4086Pro)
c.3156G>C
c.1284G>C (p.Lys428Asn)
c.12127G>C (p.Ala4043Pro)
c.9967G>C (p.Ala3323Pro)
2g.169154499C>TCA349137123LRP2c.12256G>A (p.Ala4086Thr)
c.3156G>A
c.1284G>A (p.Lys428=)
c.12127G>A (p.Ala4043Thr)
c.9967G>A (p.Ala3323Thr)
 gnomAD v4
2g.169154500T>ACA349137125LRP2c.12255A>T (p.Gln4085His)
c.3155A>T
c.1283A>T (p.Lys428Met)
c.12126A>T (p.Gln4042His)
c.9966A>T (p.Gln3322His)
2g.169154500T>CCA429922562LRP2c.12255A>G (p.Gln4085=)
c.3155A>G
c.1283A>G (p.Lys428Arg)
c.12126A>G (p.Gln4042=)
c.9966A>G (p.Gln3322=)
2g.169154500T>GCA349137126LRP2c.12255A>C (p.Gln4085His)
c.3155A>C
c.1283A>C (p.Lys428Thr)
c.12126A>C (p.Gln4042His)
c.9966A>C (p.Gln3322His)
2g.169154501T>ACA349137129LRP2c.12254A>T (p.Gln4085Leu)
c.3154A>T
c.1282A>T (p.Lys428Ter)
c.12125A>T (p.Gln4042Leu)
c.9965A>T (p.Gln3322Leu)
2g.169154501T>CCA349137132LRP2c.12254A>G (p.Gln4085Arg)
c.3154A>G
c.1282A>G (p.Lys428Glu)
c.12125A>G (p.Gln4042Arg)
c.9965A>G (p.Gln3322Arg)
 gnomAD v4
2g.169154501T>GCA349137133LRP2c.12254A>C (p.Gln4085Pro)
c.3154A>C
c.1282A>C (p.Lys428Gln)
c.12125A>C (p.Gln4042Pro)
c.9965A>C (p.Gln3322Pro)
2g.169154502G>ACA349137137LRP2c.12253C>T (p.Gln4085Ter)
c.3153C>T
c.1281C>T (p.Ser427=)
c.12124C>T (p.Gln4042Ter)
c.9964C>T (p.Gln3322Ter)
 COSMIC
2g.169154502G>CCA349137139LRP2c.12253C>G (p.Gln4085Glu)
c.3153C>G
c.1281C>G (p.Ser427=)
c.12124C>G (p.Gln4042Glu)
c.9964C>G (p.Gln3322Glu)
2g.169154502G>TCA349137135LRP2c.12253C>A (p.Gln4085Lys)
c.3153C>A
c.1281C>A (p.Ser427=)
c.12124C>A (p.Gln4042Lys)
c.9964C>A (p.Gln3322Lys)
 gnomAD v4
2g.169154503G>ACA429922564LRP2c.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
2g.169154503G>CCA349137142LRP2c.12252C>G (p.Ile4084Met)
c.3152C>G
c.1280C>G (p.Ser427Cys)
c.12123C>G (p.Ile4041Met)
c.9963C>G (p.Ile3321Met)
2g.169154503G=CA1306305592LRP2c.12252C= (p.Ile4084=)
c.3152C=
c.1280C= (p.Ser427=)
c.12123C= (p.Ile4041=)
c.9963C= (p.Ile3321=)
2g.169154503G>TCA429922563LRP2c.12252C>A (p.Ile4084=)
c.3152C>A
c.1280C>A (p.Ser427Tyr)
c.12123C>A (p.Ile4041=)
c.9963C>A (p.Ile3321=)
2g.169154504A>CCA349137145LRP2c.12251T>G (p.Ile4084Ser)
c.3151T>G
c.1279T>G (p.Ser427Ala)
c.12122T>G (p.Ile4041Ser)
c.9962T>G (p.Ile3321Ser)
2g.169154504A>GCA349137147LRP2c.12251T>C (p.Ile4084Thr)
c.3151T>C
c.1279T>C (p.Ser427Pro)
c.12122T>C (p.Ile4041Thr)
c.9962T>C (p.Ile3321Thr)
2g.169154504A>TCA349137154LRP2c.12251T>A (p.Ile4084Asn)
c.3151T>A
c.1279T>A (p.Ser427Thr)
c.12122T>A (p.Ile4041Asn)
c.9962T>A (p.Ile3321Asn)
2g.169154505T>ACA349137156LRP2c.12250A>T (p.Ile4084Phe)
c.3150A>T
c.1278A>T (p.Ile426=)
c.12121A>T (p.Ile4041Phe)
c.9961A>T (p.Ile3321Phe)
2g.169154505T>CCA349137159LRP2c.12250A>G (p.Ile4084Val)
c.3150A>G
c.1278A>G (p.Ile426Met)
c.12121A>G (p.Ile4041Val)
c.9961A>G (p.Ile3321Val)
2g.169154505T>GCA349137160LRP2c.12250A>C (p.Ile4084Leu)
c.3150A>C
c.1278A>C (p.Ile426=)
c.12121A>C (p.Ile4041Leu)
c.9961A>C (p.Ile3321Leu)
2g.169154506A=CA1306305597LRP2c.12249T= (p.Tyr4083=)
c.3149T=
c.1277T= (p.Ile426=)
c.12120T= (p.Tyr4040=)
c.9960T= (p.Tyr3320=)
2g.169154506A>CCA349137164LRP2c.12249T>G (p.Tyr4083Ter)
c.3149T>G
c.1277T>G (p.Ile426Arg)
c.12120T>G (p.Tyr4040Ter)
c.9960T>G (p.Tyr3320Ter)
2g.169154506A>GCA1952856LRP2c.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
2g.169154506A>TCA349137167LRP2c.12249T>A (p.Tyr4083Ter)
c.3149T>A
c.1277T>A (p.Ile426Lys)
c.12120T>A (p.Tyr4040Ter)
c.9960T>A (p.Tyr3320Ter)
2g.169154507T>ACA349137172LRP2c.12248A>T (p.Tyr4083Phe)
c.3148A>T
c.1276A>T (p.Ile426Leu)
c.12119A>T (p.Tyr4040Phe)
c.9959A>T (p.Tyr3320Phe)
 dbSNP
2g.169154507T>CCA349137174LRP2c.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
2g.169154507T>GCA349137176LRP2c.12248A>C (p.Tyr4083Ser)
c.3148A>C
c.1276A>C (p.Ile426Leu)
c.12119A>C (p.Tyr4040Ser)
c.9959A>C (p.Tyr3320Ser)
2g.169154507T=CA1306305602LRP2c.12248A= (p.Tyr4083=)
c.3148A=
c.1276A= (p.Ile426=)
c.12119A= (p.Tyr4040=)
c.9959A= (p.Tyr3320=)
2g.169154508A=CA1306305604LRP2c.12247T= (p.Tyr4083=)
c.3147T=
c.1275T= (p.Asn425=)
c.12118T= (p.Tyr4040=)
c.9958T= (p.Tyr3320=)
2g.169154508A>CCA349137183LRP2c.12247T>G (p.Tyr4083Asp)
c.3147T>G
c.1275T>G (p.Asn425Lys)
c.12118T>G (p.Tyr4040Asp)
c.9958T>G (p.Tyr3320Asp)
2g.169154508A>GCA349137182LRP2c.12247T>C (p.Tyr4083His)
c.3147T>C
c.1275T>C (p.Asn425=)
c.12118T>C (p.Tyr4040His)
c.9958T>C (p.Tyr3320His)
2g.169154508A>TCA349137179LRP2c.12247T>A (p.Tyr4083Asn)
c.3147T>A
c.1275T>A (p.Asn425Lys)
c.12118T>A (p.Tyr4040Asn)
c.9958T>A (p.Tyr3320Asn)
 dbSNP
2g.169154509T>ACA349137185LRP2c.12246A>T (p.Glu4082Asp)
c.3146A>T
c.1274A>T (p.Asn425Ile)
c.12117A>T (p.Glu4039Asp)
c.9957A>T (p.Glu3319Asp)
 gnomAD v4
2g.169154509T>CCA429922566LRP2c.12246A>G (p.Glu4082=)
c.3146A>G
c.1274A>G (p.Asn425Ser)
c.12117A>G (p.Glu4039=)
c.9957A>G (p.Glu3319=)
 gnomAD v4
2g.169154509T>GCA349137189LRP2c.12246A>C (p.Glu4082Asp)
c.3146A>C
c.1274A>C (p.Asn425Thr)
c.12117A>C (p.Glu4039Asp)
c.9957A>C (p.Glu3319Asp)
2g.169154510T>ACA349137191LRP2c.12245A>T (p.Glu4082Val)
c.3145A>T
c.1273A>T (p.Asn425Tyr)
c.12116A>T (p.Glu4039Val)
c.9956A>T (p.Glu3319Val)
2g.169154510T>CCA349137193LRP2c.12245A>G (p.Glu4082Gly)
c.3145A>G
c.1273A>G (p.Asn425Asp)
c.12116A>G (p.Glu4039Gly)
c.9956A>G (p.Glu3319Gly)
2g.169154510T>GCA349137196LRP2c.12245A>C (p.Glu4082Ala)
c.3145A>C
c.1273A>C (p.Asn425His)
c.12116A>C (p.Glu4039Ala)
c.9956A>C (p.Glu3319Ala)
2g.169154510_169154520delCA2753099795LRP2c.12235_12245del (p.Gln4079IlefsTer6)
c.3135_3145del
c.1263_1273del (p.Phe421LeufsTer?)
c.12106_12116del (p.Gln4036IlefsTer6)
c.9946_9956del (p.Gln3316IlefsTer6)
2g.169154511C>ACA16604061LRP2c.12244G>T (p.Glu4082Ter)
c.3144G>T
c.1272G>T (p.Arg424Ser)
c.12115G>T (p.Glu4039Ter)
c.9955G>T (p.Glu3319Ter)
 ClinVar dbSNP
2g.169154511C=CA1306305607LRP2c.12244G= (p.Glu4082=)
c.3144G=
c.1272G= (p.Arg424=)
c.12115G= (p.Glu4039=)
c.9955G= (p.Glu3319=)
2g.169154511C>GCA349137200LRP2c.12244G>C (p.Glu4082Gln)
c.3144G>C
c.1272G>C (p.Arg424Ser)
c.12115G>C (p.Glu4039Gln)
c.9955G>C (p.Glu3319Gln)
 gnomAD v4
2g.169154511C>TCA349137205LRP2c.12244G>A (p.Glu4082Lys)
c.3144G>A
c.1272G>A (p.Arg424=)
c.12115G>A (p.Glu4039Lys)
c.9955G>A (p.Glu3319Lys)
 dbSNP COSMIC
2g.169154511_169154512insTCA2661815133LRP2c.12243_12244insA (p.Glu4082ArgfsTer7)
c.3143_3144insA
c.1271_1272insA (p.Asn425GlufsTer?)
c.12114_12115insA (p.Glu4039ArgfsTer7)
c.9954_9955insA (p.Glu3319ArgfsTer7)
 gnomAD v4
2g.169154511_169154512insAACA2661815132LRP2c.12243_12244insTT (p.Glu4082LeufsTer16)
c.3143_3144insTT
c.1271_1272insTT (p.Arg424SerfsTer2)
c.12114_12115insTT (p.Glu4039LeufsTer16)
c.9954_9955insTT (p.Glu3319LeufsTer16)
 gnomAD v4
2g.169154512C>ACA349137207LRP2c.12243G>T (p.Glu4081Asp)
c.3143G>T
c.1271G>T (p.Arg424Met)
c.12114G>T (p.Glu4038Asp)
c.9954G>T (p.Glu3318Asp)
2g.169154512C=CA1306305613LRP2c.12243G= (p.Glu4081=)
c.3143G=
c.1271G= (p.Arg424=)
c.12114G= (p.Glu4038=)
c.9954G= (p.Glu3318=)
2g.169154512C>GCA349137209LRP2c.12243G>C (p.Glu4081Asp)
c.3143G>C
c.1271G>C (p.Arg424Thr)
c.12114G>C (p.Glu4038Asp)
c.9954G>C (p.Glu3318Asp)
 gnomAD v4
2g.169154512C>TCA1952857LRP2c.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
2g.169154513T>ACA349137213LRP2c.12242A>T (p.Glu4081Val)
c.3142A>T
c.1270A>T (p.Arg424Trp)
c.12113A>T (p.Glu4038Val)
c.9953A>T (p.Glu3318Val)
2g.169154513T>CCA349137215LRP2c.12242A>G (p.Glu4081Gly)
c.3142A>G
c.1270A>G (p.Arg424Gly)
c.12113A>G (p.Glu4038Gly)
c.9953A>G (p.Glu3318Gly)
2g.169154513T>GCA349137218LRP2c.12242A>C (p.Glu4081Ala)
c.3142A>C
c.1270A>C (p.Arg424=)
c.12113A>C (p.Glu4038Ala)
c.9953A>C (p.Glu3318Ala)
 gnomAD v4
2g.169154514delCA2661815134LRP2c.12241del (p.Glu4081ArgfsTer16)
c.3141del
c.1269del (p.Met423IlefsTer8)
c.12112del (p.Glu4038ArgfsTer16)
c.9952del (p.Glu3318ArgfsTer16)
 gnomAD v4
2g.169154514C>ACA349137222LRP2c.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
2g.169154514C>GCA349137224LRP2c.12241G>C (p.Glu4081Gln)
c.3141G>C
c.1269G>C (p.Met423Ile)
c.12112G>C (p.Glu4038Gln)
c.9952G>C (p.Glu3318Gln)
2g.169154514C>TCA349137221LRP2c.12241G>A (p.Glu4081Lys)
c.3141G>A
c.1269G>A (p.Met423Ile)
c.12112G>A (p.Glu4038Lys)
c.9952G>A (p.Glu3318Lys)
 gnomAD v4
2g.169154515A>CCA349137230LRP2c.12240T>G (p.Asp4080Glu)
c.3140T>G
c.1268T>G (p.Met423Arg)
c.12111T>G (p.Asp4037Glu)
c.9951T>G (p.Asp3317Glu)
2g.169154515A>GCA429922569LRP2c.12240T>C (p.Asp4080=)
c.3140T>C
c.1268T>C (p.Met423Thr)
c.12111T>C (p.Asp4037=)
c.9951T>C (p.Asp3317=)
2g.169154515A>TCA349137227LRP2c.12240T>A (p.Asp4080Glu)
c.3140T>A
c.1268T>A (p.Met423Lys)
c.12111T>A (p.Asp4037Glu)
c.9951T>A (p.Asp3317Glu)
2g.169154516T>ACA349137236LRP2c.12239A>T (p.Asp4080Val)
c.3139A>T
c.1267A>T (p.Met423Leu)
c.12110A>T (p.Asp4037Val)
c.9950A>T (p.Asp3317Val)
 gnomAD v4
2g.169154516T>CCA349137233LRP2c.12239A>G (p.Asp4080Gly)
c.3139A>G
c.1267A>G (p.Met423Val)
c.12110A>G (p.Asp4037Gly)
c.9950A>G (p.Asp3317Gly)
2g.169154516T>GCA349137237LRP2c.12239A>C (p.Asp4080Ala)
c.3139A>C
c.1267A>C (p.Met423Leu)
c.12110A>C (p.Asp4037Ala)
c.9950A>C (p.Asp3317Ala)
2g.169154517C>ACA349137238LRP2c.12238G>T (p.Asp4080Tyr)
c.3138G>T
c.1266G>T (p.Lys422Asn)
c.12109G>T (p.Asp4037Tyr)
c.9949G>T (p.Asp3317Tyr)
 dbSNP
2g.169154517C=CA1306305621LRP2c.12238G= (p.Asp4080=)
c.3138G=
c.1266G= (p.Lys422=)
c.12109G= (p.Asp4037=)
c.9949G= (p.Asp3317=)
2g.169154517C>GCA349137241LRP2c.12238G>C (p.Asp4080His)
c.3138G>C
c.1266G>C (p.Lys422Asn)
c.12109G>C (p.Asp4037His)
c.9949G>C (p.Asp3317His)
 gnomAD v4
2g.169154517C>TCA349137243LRP2c.12238G>A (p.Asp4080Asn)
c.3138G>A
c.1266G>A (p.Lys422=)
c.12109G>A (p.Asp4037Asn)
c.9949G>A (p.Asp3317Asn)
 dbSNP
2g.169154518T>ACA349137245LRP2c.12237A>T (p.Gln4079His)
c.3137A>T
c.1265A>T (p.Lys422Met)
c.12108A>T (p.Gln4036His)
c.9948A>T (p.Gln3316His)
2g.169154518T>CCA429922570LRP2c.12237A>G (p.Gln4079=)
c.3137A>G
c.1265A>G (p.Lys422Arg)
c.12108A>G (p.Gln4036=)
c.9948A>G (p.Gln3316=)
2g.169154518T>GCA349137247LRP2c.12237A>C (p.Gln4079His)
c.3137A>C
c.1265A>C (p.Lys422Thr)
c.12108A>C (p.Gln4036His)
c.9948A>C (p.Gln3316His)
2g.169154519T>ACA349137260LRP2c.12236A>T (p.Gln4079Leu)
c.3136A>T
c.1264A>T (p.Lys422Ter)
c.12107A>T (p.Gln4036Leu)
c.9947A>T (p.Gln3316Leu)
2g.169154519T>CCA349137259LRP2c.12236A>G (p.Gln4079Arg)
c.3136A>G
c.1264A>G (p.Lys422Glu)
c.12107A>G (p.Gln4036Arg)
c.9947A>G (p.Gln3316Arg)
2g.169154519T>GCA349137256LRP2c.12236A>C (p.Gln4079Pro)
c.3136A>C
c.1264A>C (p.Lys422Gln)
c.12107A>C (p.Gln4036Pro)
c.9947A>C (p.Gln3316Pro)
2g.169154520G>ACA349137263LRP2c.12235C>T (p.Gln4079Ter)
c.3135C>T
c.1263C>T (p.Phe421=)
c.12106C>T (p.Gln4036Ter)
c.9946C>T (p.Gln3316Ter)
 dbSNP COSMIC
2g.169154520G>CCA349137265LRP2c.12235C>G (p.Gln4079Glu)
c.3135C>G
c.1263C>G (p.Phe421Leu)
c.12106C>G (p.Gln4036Glu)
c.9946C>G (p.Gln3316Glu)
2g.169154520G>TCA349137268LRP2c.12235C>A (p.Gln4079Lys)
c.3135C>A
c.1263C>A (p.Phe421Leu)
c.12106C>A (p.Gln4036Lys)
c.9946C>A (p.Gln3316Lys)
2g.169154521A>CCA429922571LRP2c.12234T>G (p.Leu4078=)
c.3134T>G
c.1262T>G (p.Phe421Cys)
c.12105T>G (p.Leu4035=)
c.9945T>G (p.Leu3315=)
2g.169154521A>GCA429922572LRP2c.12234T>C (p.Leu4078=)
c.3134T>C
c.1262T>C (p.Phe421Ser)
c.12105T>C (p.Leu4035=)
c.9945T>C (p.Leu3315=)
2g.169154521A>TCA429922573LRP2c.12234T>A (p.Leu4078=)
c.3134T>A
c.1262T>A (p.Phe421Tyr)
c.12105T>A (p.Leu4035=)
c.9945T>A (p.Leu3315=)
2g.169154522A>CCA349137271LRP2c.12233T>G (p.Leu4078Arg)
c.3133T>G
c.1261T>G (p.Phe421Val)
c.12104T>G (p.Leu4035Arg)
c.9944T>G (p.Leu3315Arg)
2g.169154522A>GCA349137273LRP2c.12233T>C (p.Leu4078Pro)
c.3133T>C
c.1261T>C (p.Phe421Leu)
c.12104T>C (p.Leu4035Pro)
c.9944T>C (p.Leu3315Pro)
2g.169154522A>TCA349137276LRP2c.12233T>A (p.Leu4078His)
c.3133T>A
c.1261T>A (p.Phe421Ile)
c.12104T>A (p.Leu4035His)
c.9944T>A (p.Leu3315His)
2g.169154523G>ACA349137280LRP2c.12232C>T (p.Leu4078Phe)
c.3132C>T
c.1260C>T (p.Ile420=)
c.12103C>T (p.Leu4035Phe)
c.9943C>T (p.Leu3315Phe)
2g.169154523G>CCA349137284LRP2c.12232C>G (p.Leu4078Val)
c.3132C>G
c.1260C>G (p.Ile420Met)
c.12103C>G (p.Leu4035Val)
c.9943C>G (p.Leu3315Val)
2g.169154523G>TCA349137282LRP2c.12232C>A (p.Leu4078Ile)
c.3132C>A
c.1260C>A (p.Ile420=)
c.12103C>A (p.Leu4035Ile)
c.9943C>A (p.Leu3315Ile)
2g.169154524A>CCA349137288LRP2c.12231T>G (p.Tyr4077Ter)
c.3131T>G
c.1259T>G (p.Ile420Ser)
c.12102T>G (p.Tyr4034Ter)
c.9942T>G (p.Tyr3314Ter)
2g.169154524A>GCA429922575LRP2c.12231T>C (p.Tyr4077=)
c.3131T>C
c.1259T>C (p.Ile420Thr)
c.12102T>C (p.Tyr4034=)
c.9942T>C (p.Tyr3314=)
2g.169154524A>TCA349137291LRP2c.12231T>A (p.Tyr4077Ter)
c.3131T>A
c.1259T>A (p.Ile420Asn)
c.12102T>A (p.Tyr4034Ter)
c.9942T>A (p.Tyr3314Ter)
2g.169154525T>ACA349137292LRP2c.12230A>T (p.Tyr4077Phe)
c.3130A>T
c.1258A>T (p.Ile420Phe)
c.12101A>T (p.Tyr4034Phe)
c.9941A>T (p.Tyr3314Phe)
2g.169154525T>CCA349137293LRP2c.12230A>G (p.Tyr4077Cys)
c.3130A>G
c.1258A>G (p.Ile420Val)
c.12101A>G (p.Tyr4034Cys)
c.9941A>G (p.Tyr3314Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.169154525T>GCA349137296LRP2c.12230A>C (p.Tyr4077Ser)
c.3130A>C
c.1258A>C (p.Ile420Leu)
c.12101A>C (p.Tyr4034Ser)
c.9941A>C (p.Tyr3314Ser)
2g.169154525T=CA1306305624LRP2c.12230A= (p.Tyr4077=)
c.3130A=
c.1258A= (p.Ile420=)
c.12101A= (p.Tyr4034=)
c.9941A= (p.Tyr3314=)
2g.169154526A=CA1306305627LRP2c.12229T= (p.Tyr4077=)
c.3129T=
c.1257T= (p.Ser419=)
c.12100T= (p.Tyr4034=)
c.9940T= (p.Tyr3314=)
2g.169154526A>CCA349137300LRP2c.12229T>G (p.Tyr4077Asp)
c.3129T>G
c.1257T>G (p.Ser419Arg)
c.12100T>G (p.Tyr4034Asp)
c.9940T>G (p.Tyr3314Asp)
2g.169154526A>GCA349137302LRP2c.12229T>C (p.Tyr4077His)
c.3129T>C
c.1257T>C (p.Ser419=)
c.12100T>C (p.Tyr4034His)
c.9940T>C (p.Tyr3314His)
2g.169154526A>TCA1952858LRP2c.12229T>A (p.Tyr4077Asn)
c.3129T>A
c.1257T>A (p.Ser419Arg)
c.12100T>A (p.Tyr4034Asn)
c.9940T>A (p.Tyr3314Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.169154527C>ACA349137306LRP2c.12228G>T (p.Glu4076Asp)
c.3128G>T
c.1256G>T (p.Ser419Ile)
c.12099G>T (p.Glu4033Asp)
c.9939G>T (p.Glu3313Asp)
2g.169154527C=CA1306305635LRP2c.12228G= (p.Glu4076=)
c.3128G=
c.1256G= (p.Ser419=)
c.12099G= (p.Glu4033=)
c.9939G= (p.Glu3313=)
2g.169154527C>GCA349137307LRP2c.12228G>C (p.Glu4076Asp)
c.3128G>C
c.1256G>C (p.Ser419Thr)
c.12099G>C (p.Glu4033Asp)
c.9939G>C (p.Glu3313Asp)
2g.169154527C>TCA59898121LRP2c.12228G>A (p.Glu4076=)
c.3128G>A
c.1256G>A (p.Ser419Asn)
c.12099G>A (p.Glu4033=)
c.9939G>A (p.Glu3313=)
 ClinVar dbSNP gnomAD v4
2g.169154528T>ACA349137314LRP2c.12227A>T (p.Glu4076Val)
c.3127A>T
c.1255A>T (p.Ser419Cys)
c.12098A>T (p.Glu4033Val)
c.9938A>T (p.Glu3313Val)
2g.169154528T>CCA349137312LRP2c.12227A>G (p.Glu4076Gly)
c.3127A>G
c.1255A>G (p.Ser419Gly)
c.12098A>G (p.Glu4033Gly)
c.9938A>G (p.Glu3313Gly)
 ClinVar dbSNP
2g.169154528T>GCA349137310LRP2c.12227A>C (p.Glu4076Ala)
c.3127A>C
c.1255A>C (p.Ser419Arg)
c.12098A>C (p.Glu4033Ala)
c.9938A>C (p.Glu3313Ala)
 COSMIC
2g.169154528T=CA1306305641LRP2c.12227A= (p.Glu4076=)
c.3127A=
c.1255A= (p.Ser419=)
c.12098A= (p.Glu4033=)
c.9938A= (p.Glu3313=)
2g.169154529C>ACA349137317LRP2c.12226G>T (p.Glu4076Ter)
c.3126G>T
c.1254G>T (p.Gln418His)
c.12097G>T (p.Glu4033Ter)
c.9937G>T (p.Glu3313Ter)
2g.169154529C=CA1306305645LRP2c.12226G= (p.Glu4076=)
c.3126G=
c.1254G= (p.Gln418=)
c.12097G= (p.Glu4033=)
c.9937G= (p.Glu3313=)
2g.169154529C>GCA349137319LRP2c.12226G>C (p.Glu4076Gln)
c.3126G>C
c.1254G>C (p.Gln418His)
c.12097G>C (p.Glu4033Gln)
c.9937G>C (p.Glu3313Gln)
 dbSNP gnomAD v3 gnomAD v4
2g.169154529C>TCA349137320LRP2c.12226G>A (p.Glu4076Lys)
c.3126G>A
c.1254G>A (p.Gln418=)
c.12097G>A (p.Glu4033Lys)
c.9937G>A (p.Glu3313Lys)
2g.169154530T>ACA429922578LRP2c.12225A>T (p.Ser4075=)
c.3125A>T
c.1253A>T (p.Gln418Leu)
c.12096A>T (p.Ser4032=)
c.9936A>T (p.Ser3312=)
2g.169154530T>CCA429922580LRP2c.12225A>G (p.Ser4075=)
c.3125A>G
c.1253A>G (p.Gln418Arg)
c.12096A>G (p.Ser4032=)
c.9936A>G (p.Ser3312=)
 ClinVar COSMIC
2g.169154530T>GCA429922579LRP2c.12225A>C (p.Ser4075=)
c.3125A>C
c.1253A>C (p.Gln418Pro)
c.12096A>C (p.Ser4032=)
c.9936A>C (p.Ser3312=)
2g.169154531G>ACA349137323LRP2c.12224C>T (p.Ser4075Leu)
c.3124C>T
c.1252C>T (p.Gln418Ter)
c.12095C>T (p.Ser4032Leu)
c.9935C>T (p.Ser3312Leu)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.169154531G>CCA349137324LRP2c.12224C>G (p.Ser4075Ter)
c.3124C>G
c.1252C>G (p.Gln418Glu)
c.12095C>G (p.Ser4032Ter)
c.9935C>G (p.Ser3312Ter)
2g.169154531G=CA1306305647LRP2c.12224C= (p.Ser4075=)
c.3124C=
c.1252C= (p.Gln418=)
c.12095C= (p.Ser4032=)
c.9935C= (p.Ser3312=)
2g.169154531G>TCA349137325LRP2c.12224C>A (p.Ser4075Ter)
c.3124C>A
c.1252C>A (p.Gln418Lys)
c.12095C>A (p.Ser4032Ter)
c.9935C>A (p.Ser3312Ter)
2g.169154533_169154534delCA2661815135LRP2c.12223_12224del (p.Ser4075ArgfsTer6)
c.3123_3124del
c.1251_1252del (p.Gln418GlufsTer?)
c.12094_12095del (p.Ser4032ArgfsTer6)
c.9934_9935del (p.Ser3312ArgfsTer6)
 gnomAD v4
2g.169154532A>CCA349137328LRP2c.12223T>G (p.Ser4075Ala)
c.3123T>G
c.1251T>G (p.Ser417=)
c.12094T>G (p.Ser4032Ala)
c.9934T>G (p.Ser3312Ala)
2g.169154532A>GCA349137329LRP2c.12223T>C (p.Ser4075Pro)
c.3123T>C
c.1251T>C (p.Ser417=)
c.12094T>C (p.Ser4032Pro)
c.9934T>C (p.Ser3312Pro)
2g.169154532A>TCA349137330LRP2c.12223T>A (p.Ser4075Thr)
c.3123T>A
c.1251T>A (p.Ser417=)
c.12094T>A (p.Ser4032Thr)
c.9934T>A (p.Ser3312Thr)
2g.169154533G>ACA1952859LRP2c.12222C>T (p.Phe4074=)
c.3122C>T
c.1250C>T (p.Ser417Phe)
c.12093C>T (p.Phe4031=)
c.9933C>T (p.Phe3311=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.169154533G>CCA349137333LRP2c.12222C>G (p.Phe4074Leu)
c.3122C>G
c.1250C>G (p.Ser417Cys)
c.12093C>G (p.Phe4031Leu)
c.9933C>G (p.Phe3311Leu)
2g.169154533G=CA1306305654LRP2c.12222C= (p.Phe4074=)
c.3122C=
c.1250C= (p.Ser417=)
c.12093C= (p.Phe4031=)
c.9933C= (p.Phe3311=)
2g.169154533G>TCA349137334LRP2c.12222C>A (p.Phe4074Leu)
c.3122C>A
c.1250C>A (p.Ser417Tyr)
c.12093C>A (p.Phe4031Leu)
c.9933C>A (p.Phe3311Leu)
 COSMIC
2g.169154534A>CCA349137340LRP2c.12221T>G (p.Phe4074Cys)
c.3121T>G
c.1249T>G (p.Ser417Ala)
c.12092T>G (p.Phe4031Cys)
c.9932T>G (p.Phe3311Cys)
2g.169154534A>GCA349137338LRP2c.12221T>C (p.Phe4074Ser)
c.3121T>C
c.1249T>C (p.Ser417Pro)
c.12092T>C (p.Phe4031Ser)
c.9932T>C (p.Phe3311Ser)
2g.169154534A>TCA349137336LRP2c.12221T>A (p.Phe4074Tyr)
c.3121T>A
c.1249T>A (p.Ser417Thr)
c.12092T>A (p.Phe4031Tyr)
c.9932T>A (p.Phe3311Tyr)
 gnomAD v4
2g.169154535delCA2661815136LRP2c.12221del (p.Phe4074SerfsTer23)
c.3121del
c.1249del (p.Ser417LeufsTer7)
c.12092del (p.Phe4031SerfsTer23)
c.9932del (p.Phe3311SerfsTer23)
 gnomAD v4
2g.169154535A>CCA349137341LRP2c.12220T>G (p.Phe4074Val)
c.3120T>G
c.1248T>G (p.Gly416=)
c.12091T>G (p.Phe4031Val)
c.9931T>G (p.Phe3311Val)
2g.169154535A>GCA349137343LRP2c.12220T>C (p.Phe4074Leu)
c.3120T>C
c.1248T>C (p.Gly416=)
c.12091T>C (p.Phe4031Leu)
c.9931T>C (p.Phe3311Leu)
2g.169154535A>TCA349137344LRP2c.12220T>A (p.Phe4074Ile)
c.3120T>A
c.1248T>A (p.Gly416=)
c.12091T>A (p.Phe4031Ile)
c.9931T>A (p.Phe3311Ile)
2g.169154536C>ACA349137346LRP2c.12219G>T (p.Arg4073Ser)
c.3119G>T
c.1247G>T (p.Gly416Val)
c.12090G>T (p.Arg4030Ser)
c.9930G>T (p.Arg3310Ser)
 gnomAD v4
2g.169154536C>GCA349137347LRP2c.12219G>C (p.Arg4073Ser)
c.3119G>C
c.1247G>C (p.Gly416Ala)
c.12090G>C (p.Arg4030Ser)
c.9930G>C (p.Arg3310Ser)
 dbSNP
2g.169154536C>TCA429922581LRP2c.12219G>A (p.Arg4073=)
c.3119G>A
c.1247G>A (p.Gly416Asp)
c.12090G>A (p.Arg4030=)
c.9930G>A (p.Arg3310=)
2g.169154537C>ACA349137349LRP2c.12218G>T (p.Arg4073Met)
c.3118G>T
c.1246G>T (p.Gly416Cys)
c.12089G>T (p.Arg4030Met)
c.9929G>T (p.Arg3310Met)
 dbSNP gnomAD v4
2g.169154537C=CA1306305659LRP2c.12218G= (p.Arg4073=)
c.3118G=
c.1246G= (p.Gly416=)
c.12089G= (p.Arg4030=)
c.9929G= (p.Arg3310=)
2g.169154537C>GCA349137350LRP2c.12218G>C (p.Arg4073Thr)
c.3118G>C
c.1246G>C (p.Gly416Arg)
c.12089G>C (p.Arg4030Thr)
c.9929G>C (p.Arg3310Thr)
2g.169154537C>TCA349137352LRP2c.12218G>A (p.Arg4073Lys)
c.3118G>A
c.1246G>A (p.Gly416Ser)
c.12089G>A (p.Arg4030Lys)
c.9929G>A (p.Arg3310Lys)
 dbSNP gnomAD v2 gnomAD v4
2g.169154538T>ACA349137354LRP2c.12217A>T (p.Arg4073Trp)
c.3117A>T
c.1245A>T (p.Arg415Ser)
c.12088A>T (p.Arg4030Trp)
c.9928A>T (p.Arg3310Trp)
2g.169154538T>CCA349137356LRP2c.12217A>G (p.Arg4073Gly)
c.3117A>G
c.1245A>G (p.Arg415=)
c.12088A>G (p.Arg4030Gly)
c.9928A>G (p.Arg3310Gly)
2g.169154538T>GCA429922582LRP2c.12217A>C (p.Arg4073=)
c.3117A>C
c.1245A>C (p.Arg415Ser)
c.12088A>C (p.Arg4030=)
c.9928A>C (p.Arg3310=)
2g.169154539C>ACA349137358LRP2c.12216G>T (p.Glu4072Asp)
c.3116G>T
c.1244G>T (p.Arg415Ile)
c.12087G>T (p.Glu4029Asp)
c.9927G>T (p.Glu3309Asp)
2g.169154539C=CA1306305662LRP2c.12216G= (p.Glu4072=)
c.3116G=
c.1244G= (p.Arg415=)
c.12087G= (p.Glu4029=)
c.9927G= (p.Glu3309=)
2g.169154539C>GCA349137360LRP2c.12216G>C (p.Glu4072Asp)
c.3116G>C
c.1244G>C (p.Arg415Thr)
c.12087G>C (p.Glu4029Asp)
c.9927G>C (p.Glu3309Asp)
2g.169154539C>TCA429922583LRP2c.12216G>A (p.Glu4072=)
c.3116G>A
c.1244G>A (p.Arg415Lys)
c.12087G>A (p.Glu4029=)
c.9927G>A (p.Glu3309=)
 dbSNP
2g.169154540T>ACA349137364LRP2c.12215A>T (p.Glu4072Val)
c.3115A>T
c.1243A>T (p.Arg415Ter)
c.12086A>T (p.Glu4029Val)
c.9926A>T (p.Glu3309Val)
2g.169154540T>CCA349137363LRP2c.12215A>G (p.Glu4072Gly)
c.3115A>G
c.1243A>G (p.Arg415Gly)
c.12086A>G (p.Glu4029Gly)
c.9926A>G (p.Glu3309Gly)
2g.169154540T>GCA349137362LRP2c.12215A>C (p.Glu4072Ala)
c.3115A>C
c.1243A>C (p.Arg415=)
c.12086A>C (p.Glu4029Ala)
c.9926A>C (p.Glu3309Ala)
2g.169154541C>ACA349137367LRP2c.12214G>T (p.Glu4072Ter)
c.3114G>T
c.1242G>T (p.Leu414=)
c.12085G>T (p.Glu4029Ter)
c.9925G>T (p.Glu3309Ter)
2g.169154541C>GCA349137370LRP2c.12214G>C (p.Glu4072Gln)
c.3114G>C
c.1242G>C (p.Leu414=)
c.12085G>C (p.Glu4029Gln)
c.9925G>C (p.Glu3309Gln)
 COSMIC
2g.169154541C>TCA349137369LRP2c.12214G>A (p.Glu4072Lys)
c.3114G>A
c.1242G>A (p.Leu414=)
c.12085G>A (p.Glu4029Lys)
c.9925G>A (p.Glu3309Lys)
2g.169154542A>CCA429922584LRP2c.12213T>G (p.Ser4071=)
c.3113T>G
c.1241T>G (p.Leu414Arg)
c.12084T>G (p.Ser4028=)
c.9924T>G (p.Ser3308=)
2g.169154542A>GCA429922585LRP2c.12213T>C (p.Ser4071=)
c.3113T>C
c.1241T>C (p.Leu414Pro)
c.12084T>C (p.Ser4028=)
c.9924T>C (p.Ser3308=)
2g.169154542A>TCA429922586LRP2c.12213T>A (p.Ser4071=)
c.3113T>A
c.1241T>A (p.Leu414Gln)
c.12084T>A (p.Ser4028=)
c.9924T>A (p.Ser3308=)
2g.169154543G>ACA349137372LRP2c.12212C>T (p.Ser4071Phe)
c.3112C>T
c.1240C>T (p.Leu414=)
c.12083C>T (p.Ser4028Phe)
c.9923C>T (p.Ser3308Phe)
 gnomAD v4
2g.169154543G>CCA349137374LRP2c.12212C>G (p.Ser4071Cys)
c.3112C>G
c.1240C>G (p.Leu414Val)
c.12083C>G (p.Ser4028Cys)
c.9923C>G (p.Ser3308Cys)
2g.169154543G>TCA349137376LRP2c.12212C>A (p.Ser4071Tyr)
c.3112C>A
c.1240C>A (p.Leu414Met)
c.12083C>A (p.Ser4028Tyr)
c.9923C>A (p.Ser3308Tyr)
2g.169154544A>CCA349137377LRP2c.12211T>G (p.Ser4071Ala)
c.3111T>G
c.1239T>G (p.His413Gln)
c.12082T>G (p.Ser4028Ala)
c.9922T>G (p.Ser3308Ala)
2g.169154544A>GCA349137379LRP2c.12211T>C (p.Ser4071Pro)
c.3111T>C
c.1239T>C (p.His413=)
c.12082T>C (p.Ser4028Pro)
c.9922T>C (p.Ser3308Pro)
2g.169154544A>TCA349137381LRP2c.12211T>A (p.Ser4071Thr)
c.3111T>A
c.1239T>A (p.His413Gln)
c.12082T>A (p.Ser4028Thr)
c.9922T>A (p.Ser3308Thr)
2g.169154545T>ACA429922589LRP2c.12210A>T (p.Ser4070=)
c.3110A>T
c.1238A>T (p.His413Leu)
c.12081A>T (p.Ser4027=)
c.9921A>T (p.Ser3307=)
2g.169154545T>CCA429922588LRP2c.12210A>G (p.Ser4070=)
c.3110A>G
c.1238A>G (p.His413Arg)
c.12081A>G (p.Ser4027=)
c.9921A>G (p.Ser3307=)
 ClinVar
2g.169154545T>GCA429922587LRP2c.12210A>C (p.Ser4070=)
c.3110A>C
c.1238A>C (p.His413Pro)
c.12081A>C (p.Ser4027=)
c.9921A>C (p.Ser3307=)
2g.169154546G>ACA349137383LRP2c.12209C>T (p.Ser4070Leu)
c.3109C>T
c.1237C>T (p.His413Tyr)
c.12080C>T (p.Ser4027Leu)
c.9920C>T (p.Ser3307Leu)
 dbSNP
2g.169154546G>CCA349137385LRP2c.12209C>G (p.Ser4070Ter)
c.3109C>G
c.1237C>G (p.His413Asp)
c.12080C>G (p.Ser4027Ter)
c.9920C>G (p.Ser3307Ter)
 COSMIC
2g.169154546G=CA1306305666LRP2c.12209C= (p.Ser4070=)
c.3109C=
c.1237C= (p.His413=)
c.12080C= (p.Ser4027=)
c.9920C= (p.Ser3307=)
2g.169154546G>TCA349137387LRP2c.12209C>A (p.Ser4070Ter)
c.3109C>A
c.1237C>A (p.His413Asn)
c.12080C>A (p.Ser4027Ter)
c.9920C>A (p.Ser3307Ter)
2g.169154547A>CCA349137389LRP2c.12208T>G (p.Ser4070Ala)
c.3108T>G
c.1236T>G (p.Ser412=)
c.12079T>G (p.Ser4027Ala)
c.9919T>G (p.Ser3307Ala)
2g.169154547A>GCA349137390LRP2c.12208T>C (p.Ser4070Pro)
c.3108T>C
c.1236T>C (p.Ser412=)
c.12079T>C (p.Ser4027Pro)
c.9919T>C (p.Ser3307Pro)
2g.169154547A>TCA349137393LRP2c.12208T>A (p.Ser4070Thr)
c.3108T>A
c.1236T>A (p.Ser412=)
c.12079T>A (p.Ser4027Thr)
c.9919T>A (p.Ser3307Thr)
2g.169154548G>ACA429922590LRP2c.12207C>T (p.Leu4069=)
c.3107C>T
c.1235C>T (p.Ser412Phe)
c.12078C>T (p.Leu4026=)
c.9918C>T (p.Leu3306=)
2g.169154548G>CCA429922591LRP2c.12207C>G (p.Leu4069=)
c.3107C>G
c.1235C>G (p.Ser412Cys)
c.12078C>G (p.Leu4026=)
c.9918C>G (p.Leu3306=)
2g.169154548G>TCA429922592LRP2c.12207C>A (p.Leu4069=)
c.3107C>A
c.1235C>A (p.Ser412Tyr)
c.12078C>A (p.Leu4026=)
c.9918C>A (p.Leu3306=)

Number of alleles fetched