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