| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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=) |