Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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=) | |
2 | g.169154522A>C | CA349137271 | LRP2 | c.12233T>G (p.Leu4078Arg) c.3133T>G c.1261T>G (p.Phe421Val) c.12104T>G (p.Leu4035Arg) c.9944T>G (p.Leu3315Arg) | |
2 | g.169154522A>G | CA349137273 | LRP2 | c.12233T>C (p.Leu4078Pro) c.3133T>C c.1261T>C (p.Phe421Leu) c.12104T>C (p.Leu4035Pro) c.9944T>C (p.Leu3315Pro) | |
2 | g.169154522A>T | CA349137276 | LRP2 | c.12233T>A (p.Leu4078His) c.3133T>A c.1261T>A (p.Phe421Ile) c.12104T>A (p.Leu4035His) c.9944T>A (p.Leu3315His) | |
2 | g.169154523G>A | CA349137280 | LRP2 | c.12232C>T (p.Leu4078Phe) c.3132C>T c.1260C>T (p.Ile420=) c.12103C>T (p.Leu4035Phe) c.9943C>T (p.Leu3315Phe) | |
2 | g.169154523G>C | CA349137284 | LRP2 | c.12232C>G (p.Leu4078Val) c.3132C>G c.1260C>G (p.Ile420Met) c.12103C>G (p.Leu4035Val) c.9943C>G (p.Leu3315Val) | |
2 | g.169154523G>T | CA349137282 | LRP2 | c.12232C>A (p.Leu4078Ile) c.3132C>A c.1260C>A (p.Ile420=) c.12103C>A (p.Leu4035Ile) c.9943C>A (p.Leu3315Ile) | |
2 | g.169154524A>C | CA349137288 | LRP2 | c.12231T>G (p.Tyr4077Ter) c.3131T>G c.1259T>G (p.Ile420Ser) c.12102T>G (p.Tyr4034Ter) c.9942T>G (p.Tyr3314Ter) | |
2 | g.169154524A>G | CA429922575 | LRP2 | c.12231T>C (p.Tyr4077=) c.3131T>C c.1259T>C (p.Ile420Thr) c.12102T>C (p.Tyr4034=) c.9942T>C (p.Tyr3314=) | |
2 | g.169154524A>T | CA349137291 | LRP2 | c.12231T>A (p.Tyr4077Ter) c.3131T>A c.1259T>A (p.Ile420Asn) c.12102T>A (p.Tyr4034Ter) c.9942T>A (p.Tyr3314Ter) | |
2 | g.169154525T>A | CA349137292 | LRP2 | c.12230A>T (p.Tyr4077Phe) c.3130A>T c.1258A>T (p.Ile420Phe) c.12101A>T (p.Tyr4034Phe) c.9941A>T (p.Tyr3314Phe) | |
2 | g.169154525T>C | CA349137293 | LRP2 | c.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 |
2 | g.169154525T>G | CA349137296 | LRP2 | c.12230A>C (p.Tyr4077Ser) c.3130A>C c.1258A>C (p.Ile420Leu) c.12101A>C (p.Tyr4034Ser) c.9941A>C (p.Tyr3314Ser) | |
2 | g.169154525T= | CA1306305624 | LRP2 | c.12230A= (p.Tyr4077=) c.3130A= c.1258A= (p.Ile420=) c.12101A= (p.Tyr4034=) c.9941A= (p.Tyr3314=) | |
2 | g.169154526A= | CA1306305627 | LRP2 | c.12229T= (p.Tyr4077=) c.3129T= c.1257T= (p.Ser419=) c.12100T= (p.Tyr4034=) c.9940T= (p.Tyr3314=) | |
2 | g.169154526A>C | CA349137300 | LRP2 | c.12229T>G (p.Tyr4077Asp) c.3129T>G c.1257T>G (p.Ser419Arg) c.12100T>G (p.Tyr4034Asp) c.9940T>G (p.Tyr3314Asp) | |
2 | g.169154526A>G | CA349137302 | LRP2 | c.12229T>C (p.Tyr4077His) c.3129T>C c.1257T>C (p.Ser419=) c.12100T>C (p.Tyr4034His) c.9940T>C (p.Tyr3314His) | |
2 | g.169154526A>T | CA1952858 | LRP2 | c.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 |
2 | g.169154527C>A | CA349137306 | LRP2 | c.12228G>T (p.Glu4076Asp) c.3128G>T c.1256G>T (p.Ser419Ile) c.12099G>T (p.Glu4033Asp) c.9939G>T (p.Glu3313Asp) | |
2 | g.169154527C= | CA1306305635 | LRP2 | c.12228G= (p.Glu4076=) c.3128G= c.1256G= (p.Ser419=) c.12099G= (p.Glu4033=) c.9939G= (p.Glu3313=) | |
2 | g.169154527C>G | CA349137307 | LRP2 | c.12228G>C (p.Glu4076Asp) c.3128G>C c.1256G>C (p.Ser419Thr) c.12099G>C (p.Glu4033Asp) c.9939G>C (p.Glu3313Asp) | |
2 | g.169154527C>T | CA59898121 | LRP2 | c.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 |
2 | g.169154528T>A | CA349137314 | LRP2 | c.12227A>T (p.Glu4076Val) c.3127A>T c.1255A>T (p.Ser419Cys) c.12098A>T (p.Glu4033Val) c.9938A>T (p.Glu3313Val) | |
2 | g.169154528T>C | CA349137312 | LRP2 | c.12227A>G (p.Glu4076Gly) c.3127A>G c.1255A>G (p.Ser419Gly) c.12098A>G (p.Glu4033Gly) c.9938A>G (p.Glu3313Gly) | ClinVar dbSNP |
2 | g.169154528T>G | CA349137310 | LRP2 | c.12227A>C (p.Glu4076Ala) c.3127A>C c.1255A>C (p.Ser419Arg) c.12098A>C (p.Glu4033Ala) c.9938A>C (p.Glu3313Ala) | COSMIC |
2 | g.169154528T= | CA1306305641 | LRP2 | c.12227A= (p.Glu4076=) c.3127A= c.1255A= (p.Ser419=) c.12098A= (p.Glu4033=) c.9938A= (p.Glu3313=) | |
2 | g.169154529C>A | CA349137317 | LRP2 | c.12226G>T (p.Glu4076Ter) c.3126G>T c.1254G>T (p.Gln418His) c.12097G>T (p.Glu4033Ter) c.9937G>T (p.Glu3313Ter) | |
2 | g.169154529C= | CA1306305645 | LRP2 | c.12226G= (p.Glu4076=) c.3126G= c.1254G= (p.Gln418=) c.12097G= (p.Glu4033=) c.9937G= (p.Glu3313=) | |
2 | g.169154529C>G | CA349137319 | LRP2 | c.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 |
2 | g.169154529C>T | CA349137320 | LRP2 | c.12226G>A (p.Glu4076Lys) c.3126G>A c.1254G>A (p.Gln418=) c.12097G>A (p.Glu4033Lys) c.9937G>A (p.Glu3313Lys) | |
2 | g.169154530T>A | CA429922578 | LRP2 | c.12225A>T (p.Ser4075=) c.3125A>T c.1253A>T (p.Gln418Leu) c.12096A>T (p.Ser4032=) c.9936A>T (p.Ser3312=) | |
2 | g.169154530T>C | CA429922580 | LRP2 | c.12225A>G (p.Ser4075=) c.3125A>G c.1253A>G (p.Gln418Arg) c.12096A>G (p.Ser4032=) c.9936A>G (p.Ser3312=) | ClinVar COSMIC |
2 | g.169154530T>G | CA429922579 | LRP2 | c.12225A>C (p.Ser4075=) c.3125A>C c.1253A>C (p.Gln418Pro) c.12096A>C (p.Ser4032=) c.9936A>C (p.Ser3312=) | |
2 | g.169154531G>A | CA349137323 | LRP2 | c.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 |
2 | g.169154531G>C | CA349137324 | LRP2 | c.12224C>G (p.Ser4075Ter) c.3124C>G c.1252C>G (p.Gln418Glu) c.12095C>G (p.Ser4032Ter) c.9935C>G (p.Ser3312Ter) | |
2 | g.169154531G= | CA1306305647 | LRP2 | c.12224C= (p.Ser4075=) c.3124C= c.1252C= (p.Gln418=) c.12095C= (p.Ser4032=) c.9935C= (p.Ser3312=) | |
2 | g.169154531G>T | CA349137325 | LRP2 | c.12224C>A (p.Ser4075Ter) c.3124C>A c.1252C>A (p.Gln418Lys) c.12095C>A (p.Ser4032Ter) c.9935C>A (p.Ser3312Ter) | |
2 | g.169154533_169154534del | CA2661815135 | LRP2 | c.12223_12224del (p.Ser4075ArgfsTer6) c.3123_3124del c.1251_1252del (p.Gln418GlufsTer?) c.12094_12095del (p.Ser4032ArgfsTer6) c.9934_9935del (p.Ser3312ArgfsTer6) | gnomAD v4 |
2 | g.169154532A>C | CA349137328 | LRP2 | c.12223T>G (p.Ser4075Ala) c.3123T>G c.1251T>G (p.Ser417=) c.12094T>G (p.Ser4032Ala) c.9934T>G (p.Ser3312Ala) | |
2 | g.169154532A>G | CA349137329 | LRP2 | c.12223T>C (p.Ser4075Pro) c.3123T>C c.1251T>C (p.Ser417=) c.12094T>C (p.Ser4032Pro) c.9934T>C (p.Ser3312Pro) | |
2 | g.169154532A>T | CA349137330 | LRP2 | c.12223T>A (p.Ser4075Thr) c.3123T>A c.1251T>A (p.Ser417=) c.12094T>A (p.Ser4032Thr) c.9934T>A (p.Ser3312Thr) | |
2 | g.169154533G>A | CA1952859 | LRP2 | c.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 |
2 | g.169154533G>C | CA349137333 | LRP2 | c.12222C>G (p.Phe4074Leu) c.3122C>G c.1250C>G (p.Ser417Cys) c.12093C>G (p.Phe4031Leu) c.9933C>G (p.Phe3311Leu) | |
2 | g.169154533G= | CA1306305654 | LRP2 | c.12222C= (p.Phe4074=) c.3122C= c.1250C= (p.Ser417=) c.12093C= (p.Phe4031=) c.9933C= (p.Phe3311=) | |
2 | g.169154533G>T | CA349137334 | LRP2 | c.12222C>A (p.Phe4074Leu) c.3122C>A c.1250C>A (p.Ser417Tyr) c.12093C>A (p.Phe4031Leu) c.9933C>A (p.Phe3311Leu) | COSMIC |
2 | g.169154534A>C | CA349137340 | LRP2 | c.12221T>G (p.Phe4074Cys) c.3121T>G c.1249T>G (p.Ser417Ala) c.12092T>G (p.Phe4031Cys) c.9932T>G (p.Phe3311Cys) | |
2 | g.169154534A>G | CA349137338 | LRP2 | c.12221T>C (p.Phe4074Ser) c.3121T>C c.1249T>C (p.Ser417Pro) c.12092T>C (p.Phe4031Ser) c.9932T>C (p.Phe3311Ser) | |
2 | g.169154534A>T | CA349137336 | LRP2 | c.12221T>A (p.Phe4074Tyr) c.3121T>A c.1249T>A (p.Ser417Thr) c.12092T>A (p.Phe4031Tyr) c.9932T>A (p.Phe3311Tyr) | gnomAD v4 |
2 | g.169154535del | CA2661815136 | LRP2 | c.12221del (p.Phe4074SerfsTer23) c.3121del c.1249del (p.Ser417LeufsTer7) c.12092del (p.Phe4031SerfsTer23) c.9932del (p.Phe3311SerfsTer23) | gnomAD v4 |
2 | g.169154535A>C | CA349137341 | LRP2 | c.12220T>G (p.Phe4074Val) c.3120T>G c.1248T>G (p.Gly416=) c.12091T>G (p.Phe4031Val) c.9931T>G (p.Phe3311Val) | |
2 | g.169154535A>G | CA349137343 | LRP2 | c.12220T>C (p.Phe4074Leu) c.3120T>C c.1248T>C (p.Gly416=) c.12091T>C (p.Phe4031Leu) c.9931T>C (p.Phe3311Leu) | |
2 | g.169154535A>T | CA349137344 | LRP2 | c.12220T>A (p.Phe4074Ile) c.3120T>A c.1248T>A (p.Gly416=) c.12091T>A (p.Phe4031Ile) c.9931T>A (p.Phe3311Ile) | |
2 | g.169154536C>A | CA349137346 | LRP2 | c.12219G>T (p.Arg4073Ser) c.3119G>T c.1247G>T (p.Gly416Val) c.12090G>T (p.Arg4030Ser) c.9930G>T (p.Arg3310Ser) | gnomAD v4 |
2 | g.169154536C>G | CA349137347 | LRP2 | c.12219G>C (p.Arg4073Ser) c.3119G>C c.1247G>C (p.Gly416Ala) c.12090G>C (p.Arg4030Ser) c.9930G>C (p.Arg3310Ser) | dbSNP |
2 | g.169154536C>T | CA429922581 | LRP2 | c.12219G>A (p.Arg4073=) c.3119G>A c.1247G>A (p.Gly416Asp) c.12090G>A (p.Arg4030=) c.9930G>A (p.Arg3310=) | |
2 | g.169154537C>A | CA349137349 | LRP2 | c.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 |
2 | g.169154537C= | CA1306305659 | LRP2 | c.12218G= (p.Arg4073=) c.3118G= c.1246G= (p.Gly416=) c.12089G= (p.Arg4030=) c.9929G= (p.Arg3310=) | |
2 | g.169154537C>G | CA349137350 | LRP2 | c.12218G>C (p.Arg4073Thr) c.3118G>C c.1246G>C (p.Gly416Arg) c.12089G>C (p.Arg4030Thr) c.9929G>C (p.Arg3310Thr) | |
2 | g.169154537C>T | CA349137352 | LRP2 | c.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 |
2 | g.169154538T>A | CA349137354 | LRP2 | c.12217A>T (p.Arg4073Trp) c.3117A>T c.1245A>T (p.Arg415Ser) c.12088A>T (p.Arg4030Trp) c.9928A>T (p.Arg3310Trp) | |
2 | g.169154538T>C | CA349137356 | LRP2 | c.12217A>G (p.Arg4073Gly) c.3117A>G c.1245A>G (p.Arg415=) c.12088A>G (p.Arg4030Gly) c.9928A>G (p.Arg3310Gly) | |
2 | g.169154538T>G | CA429922582 | LRP2 | c.12217A>C (p.Arg4073=) c.3117A>C c.1245A>C (p.Arg415Ser) c.12088A>C (p.Arg4030=) c.9928A>C (p.Arg3310=) | |
2 | g.169154539C>A | CA349137358 | LRP2 | c.12216G>T (p.Glu4072Asp) c.3116G>T c.1244G>T (p.Arg415Ile) c.12087G>T (p.Glu4029Asp) c.9927G>T (p.Glu3309Asp) | |
2 | g.169154539C= | CA1306305662 | LRP2 | c.12216G= (p.Glu4072=) c.3116G= c.1244G= (p.Arg415=) c.12087G= (p.Glu4029=) c.9927G= (p.Glu3309=) | |
2 | g.169154539C>G | CA349137360 | LRP2 | c.12216G>C (p.Glu4072Asp) c.3116G>C c.1244G>C (p.Arg415Thr) c.12087G>C (p.Glu4029Asp) c.9927G>C (p.Glu3309Asp) | |
2 | g.169154539C>T | CA429922583 | LRP2 | c.12216G>A (p.Glu4072=) c.3116G>A c.1244G>A (p.Arg415Lys) c.12087G>A (p.Glu4029=) c.9927G>A (p.Glu3309=) | dbSNP |
2 | g.169154540T>A | CA349137364 | LRP2 | c.12215A>T (p.Glu4072Val) c.3115A>T c.1243A>T (p.Arg415Ter) c.12086A>T (p.Glu4029Val) c.9926A>T (p.Glu3309Val) | |
2 | g.169154540T>C | CA349137363 | LRP2 | c.12215A>G (p.Glu4072Gly) c.3115A>G c.1243A>G (p.Arg415Gly) c.12086A>G (p.Glu4029Gly) c.9926A>G (p.Glu3309Gly) | |
2 | g.169154540T>G | CA349137362 | LRP2 | c.12215A>C (p.Glu4072Ala) c.3115A>C c.1243A>C (p.Arg415=) c.12086A>C (p.Glu4029Ala) c.9926A>C (p.Glu3309Ala) | |
2 | g.169154541C>A | CA349137367 | LRP2 | c.12214G>T (p.Glu4072Ter) c.3114G>T c.1242G>T (p.Leu414=) c.12085G>T (p.Glu4029Ter) c.9925G>T (p.Glu3309Ter) | |
2 | g.169154541C>G | CA349137370 | LRP2 | c.12214G>C (p.Glu4072Gln) c.3114G>C c.1242G>C (p.Leu414=) c.12085G>C (p.Glu4029Gln) c.9925G>C (p.Glu3309Gln) | COSMIC |
2 | g.169154541C>T | CA349137369 | LRP2 | c.12214G>A (p.Glu4072Lys) c.3114G>A c.1242G>A (p.Leu414=) c.12085G>A (p.Glu4029Lys) c.9925G>A (p.Glu3309Lys) | |
2 | g.169154542A>C | CA429922584 | LRP2 | c.12213T>G (p.Ser4071=) c.3113T>G c.1241T>G (p.Leu414Arg) c.12084T>G (p.Ser4028=) c.9924T>G (p.Ser3308=) | |
2 | g.169154542A>G | CA429922585 | LRP2 | c.12213T>C (p.Ser4071=) c.3113T>C c.1241T>C (p.Leu414Pro) c.12084T>C (p.Ser4028=) c.9924T>C (p.Ser3308=) | |
2 | g.169154542A>T | CA429922586 | LRP2 | c.12213T>A (p.Ser4071=) c.3113T>A c.1241T>A (p.Leu414Gln) c.12084T>A (p.Ser4028=) c.9924T>A (p.Ser3308=) | |
2 | g.169154543G>A | CA349137372 | LRP2 | c.12212C>T (p.Ser4071Phe) c.3112C>T c.1240C>T (p.Leu414=) c.12083C>T (p.Ser4028Phe) c.9923C>T (p.Ser3308Phe) | gnomAD v4 |
2 | g.169154543G>C | CA349137374 | LRP2 | c.12212C>G (p.Ser4071Cys) c.3112C>G c.1240C>G (p.Leu414Val) c.12083C>G (p.Ser4028Cys) c.9923C>G (p.Ser3308Cys) | |
2 | g.169154543G>T | CA349137376 | LRP2 | c.12212C>A (p.Ser4071Tyr) c.3112C>A c.1240C>A (p.Leu414Met) c.12083C>A (p.Ser4028Tyr) c.9923C>A (p.Ser3308Tyr) | |
2 | g.169154544A>C | CA349137377 | LRP2 | c.12211T>G (p.Ser4071Ala) c.3111T>G c.1239T>G (p.His413Gln) c.12082T>G (p.Ser4028Ala) c.9922T>G (p.Ser3308Ala) | |
2 | g.169154544A>G | CA349137379 | LRP2 | c.12211T>C (p.Ser4071Pro) c.3111T>C c.1239T>C (p.His413=) c.12082T>C (p.Ser4028Pro) c.9922T>C (p.Ser3308Pro) | |
2 | g.169154544A>T | CA349137381 | LRP2 | c.12211T>A (p.Ser4071Thr) c.3111T>A c.1239T>A (p.His413Gln) c.12082T>A (p.Ser4028Thr) c.9922T>A (p.Ser3308Thr) | |
2 | g.169154545T>A | CA429922589 | LRP2 | c.12210A>T (p.Ser4070=) c.3110A>T c.1238A>T (p.His413Leu) c.12081A>T (p.Ser4027=) c.9921A>T (p.Ser3307=) | |
2 | g.169154545T>C | CA429922588 | LRP2 | c.12210A>G (p.Ser4070=) c.3110A>G c.1238A>G (p.His413Arg) c.12081A>G (p.Ser4027=) c.9921A>G (p.Ser3307=) | ClinVar |
2 | g.169154545T>G | CA429922587 | LRP2 | c.12210A>C (p.Ser4070=) c.3110A>C c.1238A>C (p.His413Pro) c.12081A>C (p.Ser4027=) c.9921A>C (p.Ser3307=) | |
2 | g.169154546G>A | CA349137383 | LRP2 | c.12209C>T (p.Ser4070Leu) c.3109C>T c.1237C>T (p.His413Tyr) c.12080C>T (p.Ser4027Leu) c.9920C>T (p.Ser3307Leu) | dbSNP |
2 | g.169154546G>C | CA349137385 | LRP2 | c.12209C>G (p.Ser4070Ter) c.3109C>G c.1237C>G (p.His413Asp) c.12080C>G (p.Ser4027Ter) c.9920C>G (p.Ser3307Ter) | COSMIC |
2 | g.169154546G= | CA1306305666 | LRP2 | c.12209C= (p.Ser4070=) c.3109C= c.1237C= (p.His413=) c.12080C= (p.Ser4027=) c.9920C= (p.Ser3307=) | |
2 | g.169154546G>T | CA349137387 | LRP2 | c.12209C>A (p.Ser4070Ter) c.3109C>A c.1237C>A (p.His413Asn) c.12080C>A (p.Ser4027Ter) c.9920C>A (p.Ser3307Ter) | |
2 | g.169154547A>C | CA349137389 | LRP2 | c.12208T>G (p.Ser4070Ala) c.3108T>G c.1236T>G (p.Ser412=) c.12079T>G (p.Ser4027Ala) c.9919T>G (p.Ser3307Ala) | |
2 | g.169154547A>G | CA349137390 | LRP2 | c.12208T>C (p.Ser4070Pro) c.3108T>C c.1236T>C (p.Ser412=) c.12079T>C (p.Ser4027Pro) c.9919T>C (p.Ser3307Pro) | |
2 | g.169154547A>T | CA349137393 | LRP2 | c.12208T>A (p.Ser4070Thr) c.3108T>A c.1236T>A (p.Ser412=) c.12079T>A (p.Ser4027Thr) c.9919T>A (p.Ser3307Thr) | |
2 | g.169154548G>A | CA429922590 | LRP2 | c.12207C>T (p.Leu4069=) c.3107C>T c.1235C>T (p.Ser412Phe) c.12078C>T (p.Leu4026=) c.9918C>T (p.Leu3306=) | |
2 | g.169154548G>C | CA429922591 | LRP2 | c.12207C>G (p.Leu4069=) c.3107C>G c.1235C>G (p.Ser412Cys) c.12078C>G (p.Leu4026=) c.9918C>G (p.Leu3306=) | |
2 | g.169154548G>T | CA429922592 | LRP2 | c.12207C>A (p.Leu4069=) c.3107C>A c.1235C>A (p.Ser412Tyr) c.12078C>A (p.Leu4026=) c.9918C>A (p.Leu3306=) | |
2 | g.169154549A>C | CA349137398 | LRP2 | c.12206T>G (p.Leu4069Arg) c.3106T>G c.1234T>G (p.Ser412Ala) c.12077T>G (p.Leu4026Arg) c.9917T>G (p.Leu3306Arg) | |
2 | g.169154549A>G | CA349137394 | LRP2 | c.12206T>C (p.Leu4069Pro) c.3106T>C c.1234T>C (p.Ser412Pro) c.12077T>C (p.Leu4026Pro) c.9917T>C (p.Leu3306Pro) | |
2 | g.169154549A>T | CA349137396 | LRP2 | c.12206T>A (p.Leu4069His) c.3106T>A c.1234T>A (p.Ser412Thr) c.12077T>A (p.Leu4026His) c.9917T>A (p.Leu3306His) | |
2 | g.169154550G>A | CA349137400 | LRP2 | c.12205C>T (p.Leu4069Phe) c.3105C>T c.1233C>T (p.Ile411=) c.12076C>T (p.Leu4026Phe) c.9916C>T (p.Leu3306Phe) | gnomAD v4 |
2 | g.169154550G>C | CA349137401 | LRP2 | c.12205C>G (p.Leu4069Val) c.3105C>G c.1233C>G (p.Ile411Met) c.12076C>G (p.Leu4026Val) c.9916C>G (p.Leu3306Val) | dbSNP gnomAD v4 |
2 | g.169154550G= | CA1306305668 | LRP2 | c.12205C= (p.Leu4069=) c.3105C= c.1233C= (p.Ile411=) c.12076C= (p.Leu4026=) c.9916C= (p.Leu3306=) | |
2 | g.169154550G>T | CA349137403 | LRP2 | c.12205C>A (p.Leu4069Ile) c.3105C>A c.1233C>A (p.Ile411=) c.12076C>A (p.Leu4026Ile) c.9916C>A (p.Leu3306Ile) | |
2 | g.169154551A>C | CA349137405 | LRP2 | c.12204T>G (p.Asn4068Lys) c.3104T>G c.1232T>G (p.Ile411Ser) c.12075T>G (p.Asn4025Lys) c.9915T>G (p.Asn3305Lys) | |
2 | g.169154551A>G | CA429922593 | LRP2 | c.12204T>C (p.Asn4068=) c.3104T>C c.1232T>C (p.Ile411Thr) c.12075T>C (p.Asn4025=) c.9915T>C (p.Asn3305=) | |
2 | g.169154551A>T | CA349137407 | LRP2 | c.12204T>A (p.Asn4068Lys) c.3104T>A c.1232T>A (p.Ile411Asn) c.12075T>A (p.Asn4025Lys) c.9915T>A (p.Asn3305Lys) | |
2 | g.169154552T>A | CA349137408 | LRP2 | c.12203A>T (p.Asn4068Ile) c.3103A>T c.1231A>T (p.Ile411Phe) c.12074A>T (p.Asn4025Ile) c.9914A>T (p.Asn3305Ile) | |
2 | g.169154552T>C | CA349137410 | LRP2 | c.12203A>G (p.Asn4068Ser) c.3103A>G c.1231A>G (p.Ile411Val) c.12074A>G (p.Asn4025Ser) c.9914A>G (p.Asn3305Ser) | |
2 | g.169154552T>G | CA349137412 | LRP2 | c.12203A>C (p.Asn4068Thr) c.3103A>C c.1231A>C (p.Ile411Leu) c.12074A>C (p.Asn4025Thr) c.9914A>C (p.Asn3305Thr) | |
2 | g.169154553T>A | CA349137413 | LRP2 | c.12202A>T (p.Asn4068Tyr) c.3102A>T c.1230A>T (p.Ile410=) c.12073A>T (p.Asn4025Tyr) c.9913A>T (p.Asn3305Tyr) | |
2 | g.169154553T>C | CA349137414 | LRP2 | c.12202A>G (p.Asn4068Asp) c.3102A>G c.1230A>G (p.Ile410Met) c.12073A>G (p.Asn4025Asp) c.9913A>G (p.Asn3305Asp) | gnomAD v4 |
2 | g.169154553T>G | CA349137415 | LRP2 | c.12202A>C (p.Asn4068His) c.3102A>C c.1230A>C (p.Ile410=) c.12073A>C (p.Asn4025His) c.9913A>C (p.Asn3305His) | |
2 | g.169154554A= | CA1306305672 | LRP2 | c.12201T= (p.Tyr4067=) c.3101T= c.1229T= (p.Ile410=) c.12072T= (p.Tyr4024=) c.9912T= (p.Tyr3304=) | |
2 | g.169154554A>C | CA349137418 | LRP2 | c.12201T>G (p.Tyr4067Ter) c.3101T>G c.1229T>G (p.Ile410Arg) c.12072T>G (p.Tyr4024Ter) c.9912T>G (p.Tyr3304Ter) | |
2 | g.169154554A>G | CA429922594 | LRP2 | c.12201T>C (p.Tyr4067=) c.3101T>C c.1229T>C (p.Ile410Thr) c.12072T>C (p.Tyr4024=) c.9912T>C (p.Tyr3304=) | dbSNP |
2 | g.169154554A>T | CA349137416 | LRP2 | c.12201T>A (p.Tyr4067Ter) c.3101T>A c.1229T>A (p.Ile410Lys) c.12072T>A (p.Tyr4024Ter) c.9912T>A (p.Tyr3304Ter) | |
2 | g.169154555T>A | CA349137421 | LRP2 | c.12200A>T (p.Tyr4067Phe) c.3100A>T c.1228A>T (p.Ile410Leu) c.12071A>T (p.Tyr4024Phe) c.9911A>T (p.Tyr3304Phe) | |
2 | g.169154555T>C | CA349137422 | LRP2 | c.12200A>G (p.Tyr4067Cys) c.3100A>G c.1228A>G (p.Ile410Val) c.12071A>G (p.Tyr4024Cys) c.9911A>G (p.Tyr3304Cys) | |
2 | g.169154555T>G | CA349137423 | LRP2 | c.12200A>C (p.Tyr4067Ser) c.3100A>C c.1228A>C (p.Ile410Leu) c.12071A>C (p.Tyr4024Ser) c.9911A>C (p.Tyr3304Ser) | |
2 | g.169154556A>C | CA349137425 | LRP2 | c.12199T>G (p.Tyr4067Asp) c.3099T>G c.1227T>G (p.Asn409Lys) c.12070T>G (p.Tyr4024Asp) c.9910T>G (p.Tyr3304Asp) | |
2 | g.169154556A>G | CA349137427 | LRP2 | c.12199T>C (p.Tyr4067His) c.3099T>C c.1227T>C (p.Asn409=) c.12070T>C (p.Tyr4024His) c.9910T>C (p.Tyr3304His) | |
2 | g.169154556A>T | CA349137428 | LRP2 | c.12199T>A (p.Tyr4067Asn) c.3099T>A c.1227T>A (p.Asn409Lys) c.12070T>A (p.Tyr4024Asn) c.9910T>A (p.Tyr3304Asn) | |
2 | g.169154557T>A | CA349137432 | LRP2 | c.12198A>T (p.Lys4066Asn) c.3098A>T c.1226A>T (p.Asn409Ile) c.12069A>T (p.Lys4023Asn) c.9909A>T (p.Lys3303Asn) | |
2 | g.169154557T>C | CA429922595 | LRP2 | c.12198A>G (p.Lys4066=) c.3098A>G c.1226A>G (p.Asn409Ser) c.12069A>G (p.Lys4023=) c.9909A>G (p.Lys3303=) | ClinVar dbSNP gnomAD v4 |
2 | g.169154557T>G | CA349137430 | LRP2 | c.12198A>C (p.Lys4066Asn) c.3098A>C c.1226A>C (p.Asn409Thr) c.12069A>C (p.Lys4023Asn) c.9909A>C (p.Lys3303Asn) | |
2 | g.169154557T= | CA1306305674 | LRP2 | c.12198A= (p.Lys4066=) c.3098A= c.1226A= (p.Asn409=) c.12069A= (p.Lys4023=) c.9909A= (p.Lys3303=) | |
2 | g.169154558T>A | CA349137434 | LRP2 | c.12197A>T (p.Lys4066Ile) c.3097A>T c.1225A>T (p.Asn409Tyr) c.12068A>T (p.Lys4023Ile) c.9908A>T (p.Lys3303Ile) | |
2 | g.169154558T>C | CA349137435 | LRP2 | c.12197A>G (p.Lys4066Arg) c.3097A>G c.1225A>G (p.Asn409Asp) c.12068A>G (p.Lys4023Arg) c.9908A>G (p.Lys3303Arg) | |
2 | g.169154558T>G | CA349137437 | LRP2 | c.12197A>C (p.Lys4066Thr) c.3097A>C c.1225A>C (p.Asn409His) c.12068A>C (p.Lys4023Thr) c.9908A>C (p.Lys3303Thr) | |
2 | g.169154559T>A | CA349137440 | LRP2 | c.12196A>T (p.Lys4066Ter) c.3096A>T c.1224A>T (p.Glu408Asp) c.12067A>T (p.Lys4023Ter) c.9907A>T (p.Lys3303Ter) | |
2 | g.169154559T>C | CA349137441 | LRP2 | c.12196A>G (p.Lys4066Glu) c.3096A>G c.1224A>G (p.Glu408=) c.12067A>G (p.Lys4023Glu) c.9907A>G (p.Lys3303Glu) | |
2 | g.169154559T>G | CA349137443 | LRP2 | c.12196A>C (p.Lys4066Gln) c.3096A>C c.1224A>C (p.Glu408Asp) c.12067A>C (p.Lys4023Gln) c.9907A>C (p.Lys3303Gln) | |
2 | g.169154560T>A | CA429922596 | LRP2 | c.12195A>T (p.Arg4065=) c.3095A>T c.1223A>T (p.Glu408Val) c.12066A>T (p.Arg4022=) c.9906A>T (p.Arg3302=) | dbSNP |
2 | g.169154560T>C | CA429922597 | LRP2 | c.12195A>G (p.Arg4065=) c.3095A>G c.1223A>G (p.Glu408Gly) c.12066A>G (p.Arg4022=) c.9906A>G (p.Arg3302=) | dbSNP |
2 | g.169154560T>G | CA429922598 | LRP2 | c.12195A>C (p.Arg4065=) c.3095A>C c.1223A>C (p.Glu408Ala) c.12066A>C (p.Arg4022=) c.9906A>C (p.Arg3302=) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154560T= | CA1306305677 | LRP2 | c.12195A= (p.Arg4065=) c.3095A= c.1223A= (p.Glu408=) c.12066A= (p.Arg4022=) c.9906A= (p.Arg3302=) | |
2 | g.169154561C>A | CA349137445 | LRP2 | c.12194G>T (p.Arg4065Leu) c.3094G>T c.1222G>T (p.Glu408Ter) c.12065G>T (p.Arg4022Leu) c.9905G>T (p.Arg3302Leu) | |
2 | g.169154561C= | CA1306305680 | LRP2 | c.12194G= (p.Arg4065=) c.3094G= c.1222G= (p.Glu408=) c.12065G= (p.Arg4022=) c.9905G= (p.Arg3302=) | |
2 | g.169154561C>G | CA349137448 | LRP2 | c.12194G>C (p.Arg4065Pro) c.3094G>C c.1222G>C (p.Glu408Gln) c.12065G>C (p.Arg4022Pro) c.9905G>C (p.Arg3302Pro) | |
2 | g.169154561C>T | CA59898142 | LRP2 | c.12194G>A (p.Arg4065Gln) c.3094G>A c.1222G>A (p.Glu408Lys) c.12065G>A (p.Arg4022Gln) c.9905G>A (p.Arg3302Gln) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
2 | g.169154562G>A | CA349137449 | LRP2 | c.12193C>T (p.Arg4065Ter) c.3093C>T c.1221C>T (p.Phe407=) c.12064C>T (p.Arg4022Ter) c.9904C>T (p.Arg3302Ter) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154562G>C | CA349137450 | LRP2 | c.12193C>G (p.Arg4065Gly) c.3093C>G c.1221C>G (p.Phe407Leu) c.12064C>G (p.Arg4022Gly) c.9904C>G (p.Arg3302Gly) | dbSNP |
2 | g.169154562G= | CA1306305687 | LRP2 | c.12193C= (p.Arg4065=) c.3093C= c.1221C= (p.Phe407=) c.12064C= (p.Arg4022=) c.9904C= (p.Arg3302=) | |
2 | g.169154562G>T | CA429922599 | LRP2 | c.12193C>A (p.Arg4065=) c.3093C>A c.1221C>A (p.Phe407Leu) c.12064C>A (p.Arg4022=) c.9904C>A (p.Arg3302=) | ClinVar gnomAD v4 |
2 | g.169154563A>C | CA349137452 | LRP2 | c.12192T>G (p.Ile4064Met) c.3092T>G c.1220T>G (p.Phe407Cys) c.12063T>G (p.Ile4021Met) c.9903T>G (p.Ile3301Met) | |
2 | g.169154563A>G | CA429922600 | LRP2 | c.12192T>C (p.Ile4064=) c.3092T>C c.1220T>C (p.Phe407Ser) c.12063T>C (p.Ile4021=) c.9903T>C (p.Ile3301=) | |
2 | g.169154563A>T | CA429922601 | LRP2 | c.12192T>A (p.Ile4064=) c.3092T>A c.1220T>A (p.Phe407Tyr) c.12063T>A (p.Ile4021=) c.9903T>A (p.Ile3301=) | |
2 | g.169154564A>C | CA349137453 | LRP2 | c.12191T>G (p.Ile4064Ser) c.3091T>G c.1219T>G (p.Phe407Val) c.12062T>G (p.Ile4021Ser) c.9902T>G (p.Ile3301Ser) | |
2 | g.169154564A>G | CA349137454 | LRP2 | c.12191T>C (p.Ile4064Thr) c.3091T>C c.1219T>C (p.Phe407Leu) c.12062T>C (p.Ile4021Thr) c.9902T>C (p.Ile3301Thr) | |
2 | g.169154564A>T | CA349137455 | LRP2 | c.12191T>A (p.Ile4064Asn) c.3091T>A c.1219T>A (p.Phe407Ile) c.12062T>A (p.Ile4021Asn) c.9902T>A (p.Ile3301Asn) | COSMIC |
2 | g.169154565T>A | CA349137457 | LRP2 | c.12190A>T (p.Ile4064Phe) c.3090A>T c.1218A>T (p.Glu406Asp) c.12061A>T (p.Ile4021Phe) c.9901A>T (p.Ile3301Phe) | gnomAD v4 |
2 | g.169154565T>C | CA349137459 | LRP2 | c.12190A>G (p.Ile4064Val) c.3090A>G c.1218A>G (p.Glu406=) c.12061A>G (p.Ile4021Val) c.9901A>G (p.Ile3301Val) | |
2 | g.169154565T>G | CA349137460 | LRP2 | c.12190A>C (p.Ile4064Leu) c.3090A>C c.1218A>C (p.Glu406Asp) c.12061A>C (p.Ile4021Leu) c.9901A>C (p.Ile3301Leu) | |
2 | g.169154566T>A | CA429922602 | LRP2 | c.12189A>T (p.Arg4063=) c.3089A>T c.1217A>T (p.Glu406Val) c.12060A>T (p.Arg4020=) c.9900A>T (p.Arg3300=) | |
2 | g.169154566T>C | CA429922603 | LRP2 | c.12189A>G (p.Arg4063=) c.3089A>G c.1217A>G (p.Glu406Gly) c.12060A>G (p.Arg4020=) c.9900A>G (p.Arg3300=) | ClinVar gnomAD v4 |
2 | g.169154566T>G | CA429922604 | LRP2 | c.12189A>C (p.Arg4063=) c.3089A>C c.1217A>C (p.Glu406Ala) c.12060A>C (p.Arg4020=) c.9900A>C (p.Arg3300=) | |
2 | g.169154567C>A | CA349137461 | LRP2 | c.12188G>T (p.Arg4063Leu) c.3088G>T c.1216G>T (p.Glu406Ter) c.12059G>T (p.Arg4020Leu) c.9899G>T (p.Arg3300Leu) | dbSNP gnomAD v3 gnomAD v4 |
2 | g.169154567C= | CA1306305691 | LRP2 | c.12188G= (p.Arg4063=) c.3088G= c.1216G= (p.Glu406=) c.12059G= (p.Arg4020=) c.9899G= (p.Arg3300=) | |
2 | g.169154567C>G | CA349137462 | LRP2 | c.12188G>C (p.Arg4063Pro) c.3088G>C c.1216G>C (p.Glu406Gln) c.12059G>C (p.Arg4020Pro) c.9899G>C (p.Arg3300Pro) | |
2 | g.169154567C>T | CA1952860 | LRP2 | c.12188G>A (p.Arg4063Gln) c.3088G>A c.1216G>A (p.Glu406Lys) c.12059G>A (p.Arg4020Gln) c.9899G>A (p.Arg3300Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
2 | g.169154568G>A | CA349137464 | LRP2 | c.12187C>T (p.Arg4063Ter) c.3087C>T c.1215C>T (p.Ser405=) c.12058C>T (p.Arg4020Ter) c.9898C>T (p.Arg3300Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
2 | g.169154568G>C | CA1952861 | LRP2 | c.12187C>G (p.Arg4063Gly) c.3087C>G c.1215C>G (p.Ser405=) c.12058C>G (p.Arg4020Gly) c.9898C>G (p.Arg3300Gly) | dbSNP ExAC gnomAD v2 |
2 | g.169154568G= | CA1306305694 | LRP2 | c.12187C= (p.Arg4063=) c.3087C= c.1215C= (p.Ser405=) c.12058C= (p.Arg4020=) c.9898C= (p.Arg3300=) | |
2 | g.169154568G>T | CA429922606 | LRP2 | c.12187C>A (p.Arg4063=) c.3087C>A c.1215C>A (p.Ser405=) c.12058C>A (p.Arg4020=) c.9898C>A (p.Arg3300=) | |
2 | g.169154569G>A | CA429922607 | LRP2 | c.12186C>T (p.Val4062=) c.3086C>T c.1214C>T (p.Ser405Phe) c.12057C>T (p.Val4019=) c.9897C>T (p.Val3299=) | COSMIC |
2 | g.169154569G>C | CA1952862 | LRP2 | c.12186C>G (p.Val4062=) c.3086C>G c.1214C>G (p.Ser405Cys) c.12057C>G (p.Val4019=) c.9897C>G (p.Val3299=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
2 | g.169154569G= | CA1306305698 | LRP2 | c.12186C= (p.Val4062=) c.3086C= c.1214C= (p.Ser405=) c.12057C= (p.Val4019=) c.9897C= (p.Val3299=) | |
2 | g.169154569G>T | CA429922608 | LRP2 | c.12186C>A (p.Val4062=) c.3086C>A c.1214C>A (p.Ser405Tyr) c.12057C>A (p.Val4019=) c.9897C>A (p.Val3299=) | |
2 | g.169154570A>C | CA349137468 | LRP2 | c.12185T>G (p.Val4062Gly) c.3085T>G c.1213T>G (p.Ser405Ala) c.12056T>G (p.Val4019Gly) c.9896T>G (p.Val3299Gly) | |
2 | g.169154570A>G | CA349137469 | LRP2 | c.12185T>C (p.Val4062Ala) c.3085T>C c.1213T>C (p.Ser405Pro) c.12056T>C (p.Val4019Ala) c.9896T>C (p.Val3299Ala) | |
2 | g.169154570A>T | CA349137471 | LRP2 | c.12185T>A (p.Val4062Asp) c.3085T>A c.1213T>A (p.Ser405Thr) c.12056T>A (p.Val4019Asp) c.9896T>A (p.Val3299Asp) | |
2 | g.169154571C>A | CA349137474 | LRP2 | c.12184G>T (p.Val4062Phe) c.3084G>T c.1212G>T (p.Met404Ile) c.12055G>T (p.Val4019Phe) c.9895G>T (p.Val3299Phe) | |
2 | g.169154571C>G | CA349137475 | LRP2 | c.12184G>C (p.Val4062Leu) c.3084G>C c.1212G>C (p.Met404Ile) c.12055G>C (p.Val4019Leu) c.9895G>C (p.Val3299Leu) | |
2 | g.169154571C>T | CA349137477 | LRP2 | c.12184G>A (p.Val4062Ile) c.3084G>A c.1212G>A (p.Met404Ile) c.12055G>A (p.Val4019Ile) c.9895G>A (p.Val3299Ile) | |
2 | g.169154572A= | CA1306305702 | LRP2 | c.12183T= (p.Asn4061=) c.3083T= c.1211T= (p.Met404=) c.12054T= (p.Asn4018=) c.9894T= (p.Asn3298=) | |
2 | g.169154572A>C | CA349137479 | LRP2 | c.12183T>G (p.Asn4061Lys) c.3083T>G c.1211T>G (p.Met404Arg) c.12054T>G (p.Asn4018Lys) c.9894T>G (p.Asn3298Lys) | dbSNP gnomAD v2 gnomAD v4 |
2 | g.169154572A>G | CA429922609 | LRP2 | c.12183T>C (p.Asn4061=) c.3083T>C c.1211T>C (p.Met404Thr) c.12054T>C (p.Asn4018=) c.9894T>C (p.Asn3298=) | |
2 | g.169154572A>T | CA349137481 | LRP2 | c.12183T>A (p.Asn4061Lys) c.3083T>A c.1211T>A (p.Met404Lys) c.12054T>A (p.Asn4018Lys) c.9894T>A (p.Asn3298Lys) |