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