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